VID CVVT rsID CVAL vcfmatch CVCS CVSZ CVNA CVDS CVLE CTRS CTAA CTPS CTRR 9 Simple 1800562 A . CI 1 10 Hemochromatosis type 1(P);Hemochromatosis type 1(P);Hereditary hemochromatosis(P);Hemochromatosis type 1(P);Hemochromatosis type 1(P);Hereditary cancer-predisposing syndrome(P);not provided(P);Hereditary hemochromatosis(P);Cutaneous photosensitivity(US);Porphyrinuria(US);Hemochromatosis type 1(P) 1/9/2018 50.79 1.6 P 3 127 Simple 121964970 T . CI 1 4 not specified(US);not provided(P);Cardiovascular phenotype(P);Homocystinuria due to CBS deficiency(US) 12/8/2016 9.06 2.5 PLP 3 336 Simple 137854550 G . CI 1 5 "Neurofibromatosis, type 1(P);not provided(P);Hereditary cancer-predisposing syndrome(P);Neurofibromatosis, type 1(P);Multiple cafe-au-lait spots(P);Axillary freckling(P);Neurofibromas(P);Optic nerve glioma(P)" 12/11/2017 30 0.6 P 3 354 Simple 137854557 G . CI 1 3 "Neurofibromatosis, type 1(P);Hereditary cancer-predisposing syndrome(P);Neurofibromatosis, type 1(P)" 9/5/2017 16.8 1 P 3 548 Simple 3848519 A . CI 1 2 Erythropoietic protoporphyria(LB);not specified(B) 6/14/2016 -8.4 1.5 BLB 3 632 Simple 76212747 G . CI 1 5 "not provided(P);Phenylketonuria(P);Phenylketonuria(P);Hyperphenylalaninemia, non-pku(P);Phenylketonuria(P)" 4/13/2017 28.2 1.6 P 3 788 Simple 72552293 G . CI 1 5 not specified(LB);SUDDEN INFANT DEATH SYNDROME(LB);Brugada syndrome(B);not specified(B);Cardiovascular phenotype(LB) 12/29/2017 -19.5 1.4 BLB 3 797 Simple 137854567 T . CI 1 7 not specified(LB);Familial adenomatous polyposis 1(B);Hereditary cancer-predisposing syndrome(B);APC-Associated Polyposis Disorders(LB);not specified(US);Hereditary cancer-predisposing syndrome(LB);not provided(B) 1/10/2018 -26.7 0.714285714 B 3 829 Simple 1801166 C . CI 1 8 not specified(LB);Familial adenomatous polyposis 1(B);not specified(B);not specified(B);APC-Associated Polyposis Disorders(LB);not specified(B);not specified(B);Hereditary cancer-predisposing syndrome(B) 1/12/2018 -37.8 1.75 B 3 925 Simple 72555360 A . CI 1 9 "GM1 gangliosidosis type 2(P);not provided(P);Morquio syndrome(US);GM1 gangliosidosis(LP);Infantile GM1 gangliosidosis(P);GM1 gangliosidosis type 2(P);Gangliosidosis GM1 type 3(P);Mucopolysaccharidosis, MPS-IV-B(P);Infantile GM1 gangliosidosis(P)" 12/18/2017 44.7 0.888888889 P 3 1078 Simple 61747071 T . CI 1 6 not specified(B);not specified(B);Joubert syndrome(LB);Meckel-Gruber syndrome(LB);Nephronophthisis(LB);Joubert syndrome(B);Meckel-Gruber syndrome(B) 8/8/2017 -24 1.666666667 BLB 3 1289 Simple 35077384 T . CI 1 4 "not specified(B);Spastic Paraplegia, Dominant(LB);Spastic tetraparesis(US);Spastic paraplegia(B)" 5/15/2017 -14.61 2 BLB 3 1418 Simple 121912615 C . CI 1 4 not specified(US);Sucrase-isomaltase deficiency(P);not provided(P);Sucrase-isomaltase deficiency(LP) 4/6/2017 14.13 1.5 PLP 3 1687 Simple 80338680 A . CI 1 3 Deficiency of alpha-mannosidase(P);Deficiency of alpha-mannosidase(P);Inborn genetic diseases(P) 5/26/2017 16.2 2 P 3 1707 Simple 4253208 C . CI 1 5 not specified(US);not provided(LB);Cerebrooculofacioskeletal Syndrome(LB);Cockayne syndrome(LB);Macular degeneration(LB) 6/14/2016 -11.61 2 BLB 3 1721 Simple 121908287 C . CI 1 5 "not provided(P);Amyotrophic lateral sclerosis type 11(P);Charcot-Marie-Tooth disease, type IV(P);not specified(P);not provided(P)" 12/29/2017 29.4 0.8 P 3 1954 Simple 11555566 C . CI 1 2 Severe combined immunodeficiency due to ADA deficiency(LB);not specified(B) 6/14/2016 -8.4 1.5 BLB 3 1973 Simple 73598374 T . CI 1 2 Severe combined immunodeficiency due to ADA deficiency(LB);not specified(B) 4/13/2017 -9 1 BLB 3 2064 Simple 137852776 C . CI 1 6 not specified(LB);not specified(US);not specified(US);Epilepsy juvenile absence(B);Juvenile myoclonic epilepsy(B);not provided(LB);not specified(LB) 12/14/2017 -14.91 1.333333333 BLB 3 2199 Simple 119103280 T . CI 1 4 not specified(B);not specified(LB);not provided(LB);not specified(LB) 11/15/2017 -15 0.5 BLB 3 2225 Simple 5030824 G . CI 1 5 "Erythrocytosis, familial, 2(P);Von Hippel-Lindau syndrome(P);Hereditary cancer-predisposing syndrome(P);not specified(US);Hereditary cancer-predisposing syndrome(LP);Von Hippel-Lindau syndrome(P)" 1/8/2018 20.13 0.8 P 3 2232 Simple 28940298 T . CI 1 5 "not specified(US);not provided(P);Erythrocytosis, familial, 2(P);Von Hippel-Lindau syndrome(P);Von Hippel-Lindau syndrome(LB);Hereditary cancer-predisposing syndrome(P)" 12/27/2017 14.7 0.4 P 3 2233 Simple 104893829 T . CI 1 5 "not specified(US);Von Hippel-Lindau syndrome(LB);Hereditary cancer-predisposing syndrome(US);Erythrocytosis, familial, 2(B);Von Hippel-Lindau syndrome(B);not specified(US)" 12/27/2017 -9.87 0.8 BLB 3 2248 Simple 13306575 A . CI 1 3 "Chronic granulomatous disease(LB);Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2(B);not specified(B)" 6/30/2017 -15 0.666666667 BLB 3 2282 Simple 138382758 A . CI 1 4 "not specified(LB);Charcot-Marie-Tooth disease, type 2(B);not specified(US);Hereditary motor and sensory neuropathy(LB)" 12/14/2017 -12.27 0.75 BLB 3 2324 Simple 36215895 T . CI 1 4 "not specified(LB);not specified(US);Emery-Dreifuss muscular dystrophy(LB);Emery-Dreifuss muscular dystrophy 5, autosomal dominant(LB)" 11/17/2017 -8.94 1.5 BLB 3 2356 Simple 80338902 A . CI 1 10 "Usher syndrome, type 2A(P);Retinitis pigmentosa 39(P);Usher syndrome, type 2A(P);Retinitis pigmentosa 39(LP);not provided(P);USH2A-Related Disorders(P);Usher syndrome, type 2A(LP);Retinitis pigmentosa 39(LP);not specified(US);Inborn genetic diseases(P)" 7/10/2017 40.5 1.8 P 3 2547 Simple 104895094 C . CI 1 9 "Familial Mediterranean fever(P);not provided(P);Familial Mediterranean fever(LP);Familial mediterranean fever, autosomal dominant(LP);not specified(P);Familial Mediterranean fever(LB);Familial Mediterranean fever(LP);not specified(US);Inborn genetic diseases(P)" 2/2/2018 26.7 1.333333333 P 3 2548 Simple 61732874 A . CI 1 6 Familial Mediterranean fever(LP);not provided(P);Familial Mediterranean fever(P);Familial Mediterranean fever(P);not specified(P);Familial Mediterranean fever(P) 12/12/2017 32.4 0.833333333 P 3 2552 Simple 11466024 T . CI 1 6 Familial Mediterranean fever(B);not specified(US);not provided(LB);not specified(US);Familial Mediterranean fever(US);not provided(US) 1/8/2018 -9.9 0.666666667 BLB 3 2821 Simple 28940272 G . CI 1 5 not specified(B);not specified(US);not specified(LB);not provided(LB);Cohen syndrome(LB) 1/3/2018 -13.44 2 BLB 3 2878 Simple 11591147 T . CI 1 8 "Hypercholesterolemia, autosomal dominant, 3(B);Hypercholesterolemia, autosomal dominant, 3(B);Familial hypercholesterolemia(B);Familial hypercholesterolemia(LB);Familial hypercholesterolemia(B);Familial hypercholesterolemia(B);Familial hypercholesterolemia(B);not specified(B)" 8/11/2017 -42.6 1.375 B 3 3019 Simple 587776547 - . CI 1 6 Hereditary cancer-predisposing syndrome(P);not provided(P);Ataxia-telangiectasia syndrome(P);Ataxia-telangiectasia syndrome(P);Ataxia-telangiectasia syndrome(P);Hereditary cancer-predisposing syndrome(P) 1/5/2018 34.8 1 P 3 3027 Simple 3092857 G . CI 1 9 not specified(B);Hereditary cancer-predisposing syndrome(B);Ataxia-telangiectasia syndrome(B);not provided(LB);Ataxia-telangiectasia syndrome(LB);Hereditary cancer-predisposing syndrome(LB);not specified(B);Hereditary cancer-predisposing syndrome(B);not provided(B) 1/6/2018 -40.5 1.777777778 B 3 3038 Simple 201686625 G . CI 1 9 not specified(LB);Ataxia-telangiectasia syndrome(B);Hereditary cancer-predisposing syndrome(US);not specified(US);not specified(US);not specified(B);Hereditary cancer-predisposing syndrome(B);not provided(US);Ataxia-telangiectasia syndrome(LB) 1/10/2018 -23.91 1.333333333 BLB 3 3044 Simple 1137887 A . CI 1 6 not provided(LP);Ataxia-telangiectasia syndrome(P);Hereditary cancer-predisposing syndrome(P);Hereditary cancer-predisposing syndrome(US);Ataxia-telangiectasia syndrome(P);Hereditary cancer-predisposing syndrome(LP) 12/27/2017 23.13 1.166666667 P 3 3049 Simple 6151429 C . CI 1 2 Metachromatic leukodystrophy(LB);not provided(B) 12/21/2017 -9 1 BLB 3 3131 Simple 17215500 T . CI 1 6 not provided(P);Cardiovascular phenotype(P);not provided(P);Long QT syndrome 1(P);Jervell and Lange-Nielsen syndrome(P);Long QT syndrome(P) 11/28/2017 36 0.166666667 P 3 3211 Simple 34006675 A . CI 1 5 not specified(B);not specified(B);not specified(B);Walker-Warburg congenital muscular dystrophy(B);Cardiovascular phenotype(B) 8/8/2017 -22.2 3.4 BLB 3 3362 Simple 41265017 A . CI 1 4 "not specified(B);Cone-Rod Dystrophy, Recessive(LB);Retinitis Pigmentosa, Recessive(LB);not specified(B)" 6/14/2016 -16.2 1.75 BLB 3 3370 Simple 41419545 T . CI 1 8 Hereditary cancer-predisposing syndrome(LB);not specified(LB);not specified(LB);Multiple fibrofolliculomas(B);Multiple fibrofolliculomas(LB);Multiple fibrofolliculomas(LB);Spontaneous pneumothorax(LB);not specified(LB) 12/31/2017 -26.7 0.75 B 3 3645 Simple 41303129 T . CI 1 5 not specified(B);not specified(B);not specified(B);Autosomal recessive cerebellar ataxia(LB);not specified(B) 8/31/2016 -22.2 2.6 BLB 3 3679 Simple 28940884 C . CI 1 2 UDPglucose-4-epimerase deficiency(B);not specified(LB) 2/1/2018 -9 0.5 BLB 3 3736 Simple 112029328 A . CI 1 11 Familial hypercholesterolemia(P);Familial hypercholesterolemia(LP);Familial hypercholesterolemia(P);Familial hypercholesterolemia(LB);Familial hypercholesterolemia(P);not provided(P);Familial hypercholesterolemia(P);Familial hypercholesterolemia(P);Familial hypercholesterolemia(P);not provided(P);Familial hypercholesterolemia(P) 9/21/2017 50.7 1.363636364 P 3 3830 Simple 1800556 T . CI 1 4 not provided(P);Deficiency of butyryl-CoA dehydrogenase(LB);not specified(B);Deficiency of butyryl-CoA dehydrogenase(B) 7/24/2017 -8.4 1 BLB 3 3851 Simple 121907994 A . CI 1 3 Wilson disease(US);Wilson disease(P);Wilson disease(P) 11/3/2016 11.73 1.333333333 PLP 3 3997 Simple 74374973 T . CI 1 5 "not specified(B);not specified(B);not specified(B);not specified(LB);Limb-girdle muscular dystrophy-dystroglycanopathy, type C3(B);Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3(B)" 1/9/2018 -24.6 1.6 BLB 3 4019 Simple 398124234 CC . CI 1 5 GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY(P);GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY(P);GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY(US);not provided(LP);not provided(US) 9/11/2017 12.9 1.4 PLP 3 4030 Simple 1800309 A . CI 1 4 "not specified(B);not specified(B);Glycogen storage disease, type II(LB);Glycogen storage disease, type II(B)" 1/19/2018 -17.4 2.25 BLB 3 4179 Simple 72556554 A . CI 1 5 "Aicardi Goutieres syndrome 1(P);not provided(P);Vasculopathy, retinal, with cerebral leukodystrophy(B);Aicardi Goutieres syndrome(P);Aicardi Goutieres syndrome 1(P)" 8/23/2017 16.2 1.4 P 3 4229 Simple 104894683 A . CI 1 7 "Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5(B);Limb-girdle muscular dystrophy-dystroglycanopathy, type C5(B);Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5(B);Walker-Warburg congenital muscular dystrophy(B);not specified(LB);not specified(LB);not provided(LB)" 2/1/2018 -32.7 0.857142857 B 3 4244 Simple 121908108 A . CI 1 4 not specified(LB);not specified(LB);not specified(LB);Familial hypertrophic cardiomyopathy 1(B) 9/5/2017 -14.4 1.25 BLB 3 4371 Simple 121908147 A . CI 1 5 not provided(LB);Familial cold autoinflammatory syndrome(LB);not specified(US);not specified(US);Cryopyrin associated periodic syndrome(B) 1/5/2018 -12.3 1 BLB 3 4395 Simple 111033258 C . CI 1 6 "Usher syndrome, type 3A(P);Retinitis Pigmentosa, Dominant(US);Retinitis pigmentosa-deafness syndrome(P);not provided(P);Usher syndrome, type 3A(P);Usher syndrome, type 3A(P)" 9/5/2017 29.1 1 P 3 4447 Simple 35086888 A . CI 1 4 "Nephropathic cystinosis(LB);Cystinosis(LB);not provided(B);Cystinosis, ocular nonnephropathic(B);Juvenile nephropathic cystinosis(B);Nephropathic cystinosis(B)" 1/3/2018 -18 0.75 BLB 3 4693 Simple 2066844 T . CI 1 4 not specified(US);Blau syndrome(LB);Crohn disease(LB);not specified(B) 1/9/2018 -11.64 1.75 BLB 3 4733 Simple 121908338 A . CI 1 7 "not specified(B);not specified(B);Primary dilated cardiomyopathy(B);not specified(B);not provided(LB);Myofibrillar myopathy, ZASP-related(B);Cardiovascular phenotype(B)" 4/1/2016 -30.9 3 B 3 4738 Simple 137852986 A . CI 1 13 "not provided(P);Hereditary cancer-predisposing syndrome(P);Familial cancer of breast(P);Fanconi anemia, complementation group J(P);Hereditary cancer-predisposing syndrome(P);Hereditary cancer-predisposing syndrome(P);Neoplasm of the breast(US);Fanconi anemia(P);Fanconi anemia, complementation group J(LP);Neoplasm of ovary(LP);Breast cancer, early-onset(P);not provided(P);Familial cancer of breast(P);Fanconi anemia, complementation group J(P);Tracheoesophageal fistula(P);Fanconi anemia, complementation group J(P)" 1/9/2018 63.3 1.153846154 P 3 4842 Simple 111033212 C . CI 1 4 Enlarged vestibular aqueduct(LP);Pendred's syndrome(LP);not specified(US);not specified(LP);Pendred's syndrome(LP) 11/2/2017 8.7 0.25 PLP 3 4927 Simple 41281314 G . CI 1 4 "not specified(B);not specified(B);Nonsyndromic Hearing Loss, Recessive(LB);not specified(B)" 11/3/2017 -17.4 2.5 BLB 3 4975 Simple 11887534 C . CI 1 3 not specified(B);Sitosterolemia(LB);Sitosterolemia(LB) 6/14/2016 -11.4 1.333333333 BLB 3 4987 Simple 10151259 T . CI 1 4 "not specified(B);Leber congenital amaurosis(LB);Cone-Rod Dystrophy, Recessive(LB);not specified(B)" 10/21/2016 -16.8 1.5 BLB 3 4988 Simple 17103671 G . CI 1 3 not specified(B);Leber congenital amaurosis(LB);Cone-rod dystrophy 13(B);Leber congenital amaurosis 6(B) 12/23/2017 -13.8 1.333333333 BLB 3 5027 Simple 104894342 C . CI 1 3 "Tumoral calcinosis, familial, hyperphosphatemic(US);not provided(LP);Tumoral calcinosis, familial, hyperphosphatemic(P)" 9/19/2017 8.76 1.333333333 PLP 3 5056 Simple 5030739 T . CI 1 3 not specified(B);not specified(B);Combined oxidative phosphorylation deficiency 17(B) 7/31/2017 -16.8 1.333333333 BLB 3 5099 Simple 118203576 C . CI 1 13 not specified(B);Hereditary cancer-predisposing syndrome(B);not specified(B);Tuberous sclerosis 1(B);Hereditary cancer-predisposing syndrome(B);not provided(B);Tuberous sclerosis syndrome(B);Focal cortical dysplasia type II(B);not specified(B);Tuberous sclerosis 1(B);Tuberous sclerosis 1(B);not provided(B);not specified(B) 8/22/2017 -67.2 2.307692308 B 3 5103 Simple 118203657 A . CI 1 10 not specified(B);Hereditary cancer-predisposing syndrome(B);not specified(B);not provided(B);Tuberous sclerosis 1(B);Tuberous sclerosis 1(B);Tuberous sclerosis syndrome(LB);Focal cortical dysplasia type II(LB);not specified(B);not specified(LB) 1/13/2018 -44.1 2.2 B 3 5114 Simple 104894639 T . CI 1 4 not specified(US);Sanfilippo syndrome(LP);not provided(LP);Inborn genetic diseases(P) 11/23/2016 11.49 2 PLP 3 5149 Simple 55843567 T . CI 1 3 not specified(B);not specified(B);not specified(B) 3/12/2018 -14.4 3.333333333 BLB 3 5225 Simple 397515360 - . CI 1 7 "Achromatopsia 3(P);not provided(P);Stargardt Disease, Recessive(US);Achromatopsia(P);Achromatopsia 3(P);Achromatopsia(P);Achromatopsia(P)" 3/20/2018 35.1 0.857142857 P 3 5289 Simple 116900495 C . CI 1 2 not specified(B);not specified(B) 2/2/2018 -12 0.5 BLB 3 5302 Simple 34557412 G . CI 1 7 "Common variable immunodeficiency 2(LP);not provided(P);Common Variable Immune Deficiency, Dominant(LB);not specified(P);not provided(LB);Common variable immunodeficiency 2(LP);not provided(US)" 12/26/2017 11.13 1 PLP 3 5303 Simple 72553883 T . CI 1 5 "not provided(P);Common Variable Immune Deficiency, Dominant(LB);Common variable immunodeficiency 2(LP);not specified(P);Common variable immunodeficiency 2(LP)" 1/8/2018 15 0.6 P 3 5304 Simple 104894649 T . CI 1 2 "Common Variable Immune Deficiency, Dominant(LB);Common variable immunodeficiency 2(B)" 11/22/2017 -9 0.5 BLB 3 5342 Simple 35953626 A . CI 1 5 Ellis-van Creveld Syndrome(B);not specified(B);not specified(B);Chondroectodermal dysplasia(B);Curry-Hall syndrome(B);not specified(B) 8/7/2017 -28.8 1.2 B 3 5360 Simple 74315342 T . CI 1 7 "Nephrotic syndrome, idiopathic, steroid-resistant(US);Nephrotic syndrome, idiopathic, steroid-resistant(P);Steroid-resistant nephrotic syndrome(P);Nephrotic syndrome, idiopathic, steroid-resistant(P);not provided(P);not provided(P);Idiopathic nephrotic syndrome(P)" 12/8/2016 33.93 1.571428571 P 3 5541 Simple 17215437 T . CI 1 7 Cardiovascular phenotype(LB);Syncope(US);Ventricular fibrillation(US);not specified(US);not specified(B);Periodic paralysis(B);Brugada syndrome 6(B);Brugada syndrome 6(LB) 1/4/2018 -22.11 2 BLB 3 5561 Simple 28756990 A . CI 1 2 Lynch syndrome(LB);MLH3-Related Lynch Syndrome(B) 8/8/2017 -9 0.5 BLB 3 5591 Simple 17879961 G . CI 1 11 "not provided(LP);Hereditary cancer-predisposing syndrome(P);Familial cancer of breast(P);Breast and colorectal cancer, susceptibility to(LP);Hereditary cancer-predisposing syndrome(P);not specified(US);Breast cancer, susceptibility to(P);not provided(P);Familial cancer of breast(LP);not provided(US);Gastrointestinal carcinoma(US);Adrenocortical carcinoma(US)" 1/9/2018 36.33 1.090909091 P 3 5594 Simple 17883862 A . CI 1 9 not specified(B);Hereditary cancer-predisposing syndrome(B);Familial cancer of breast(B);Familial cancer of breast(LB);Hereditary cancer-predisposing syndrome(LB);not specified(LB);not specified(B);Hereditary cancer-predisposing syndrome(B);not provided(LB) 1/5/2018 -38.7 1.444444444 B 3 5603 Simple 137853011 A . CI 1 12 "not provided(P);Hereditary cancer-predisposing syndrome(P);Familial cancer of breast(P);Breast and colorectal cancer, susceptibility to(P);Hereditary cancer-predisposing syndrome(P);Neoplasm of the breast(P);Colorectal cancer(US);Breast cancer, susceptibility to(P);not provided(LP);Familial cancer of breast(P);Li-Fraumeni syndrome 2(P);Osteosarcoma(P);Malignant tumor of prostate(P);Familial cancer of breast(LP);Hereditary breast and ovarian cancer syndrome(LP)" 1/10/2018 54.9 1.083333333 P 3 5641 Simple 34116584 T . CI 1 3 not specified(B);Primary hyperoxaluria(LB);not provided(LB) 6/26/2017 -10.8 1.333333333 BLB 3 5738 Simple 137853138 A . CI 1 5 "not specified(US);Pigmented paravenous chorioretinal atrophy(LB);Retinitis Pigmentosa, Recessive(LB);Leber congenital amaurosis(LB);not specified(US)" 6/14/2016 -9.48 1.8 BLB 3 5970 Simple 77775126 T . CI 1 3 "not specified(B);Retinitis Pigmentosa, Dominant(LB);not specified(LB)" 7/21/2016 -10.8 1.666666667 BLB 3 6054 Simple 74315448 C . CI 1 5 not specified(US);Cardiac arrhythmia(LB);Cardiovascular phenotype(LB);Long QT syndrome 6(LB);not provided(LB) 9/20/2017 -11.4 1.4 BLB 3 6107 Simple 116171274 A . CI 1 7 "Spastic paraplegia(P);not provided(P);Spastic Paraplegia, Recessive(LP);Congenital Bile Acid Synthesis Defect(US);Hereditary spastic paraplegia(P);not provided(P);Spastic paraplegia 5A(LP)" 7/12/2017 29.1 1 P 3 6334 Simple 35269064 T . CI 1 2 not specified(LB);Citrullinemia type I(B) 2/14/2018 -9 0 BLB 3 6367 Simple 121908919 C . CI 1 6 "not specified(LB);Hereditary sensory and autonomic neuropathy type IIA(B);Generalized epilepsy with febrile seizures plus, type 7(B);Generalized epilepsy with febrile seizures plus(LB);not specified(LB);not specified(LB);Generalized epilepsy with febrile seizures plus, type 7(LB)" 12/27/2017 -20.1 1 BLB 3 6370 Simple 267607030 C . CI 1 8 "Generalized epilepsy with febrile seizures plus(LB);Small fiber neuropathy(LB);Congenital Indifference to Pain(LB);Severe myoclonic epilepsy in infancy(LB);Paroxysmal extreme pain disorder(LB);Inherited Erythromelalgia(LB);Familial Febrile Seizures(LB);Hereditary sensory and autonomic neuropathy type IIA(LB);Generalized epilepsy with febrile seizures plus, type 7(LB)" 6/26/2017 -24 0.875 BLB 3 6499 Simple 34336420 T . CI 1 3 Maturity onset diabetes mellitus in young(LB);not provided(B);Monogenic diabetes(B) 10/11/2016 -14.4 1.333333333 BLB 3 6503 Simple 137853027 G . CI 1 5 not provided(P);Jeune thoracic dystrophy(LP);Short Rib Polydactyly Syndrome(US);Narrow chest(P);Intrauterine growth retardation(P);Bowing of the long bones(P);Short-rib thoracic dysplasia 3 with or without polydactyly(LP) 6/23/2017 15.9 1.4 P 3 6667 Simple 121908954 G . CI 1 4 not specified(B);not specified(LB);not specified(LB);Dysferlinopathy(B) 3/6/2018 -17.4 0.75 BLB 3 6858 Simple 121434437 A . CI 1 2 "Heterotaxia(LB);Heterotaxy, visceral, 4, autosomal(B)" 12/6/2017 -9 0.5 BLB 3 6895 Simple 34677591 A . CI 1 10 not specified(B);Hereditary cancer-predisposing syndrome(B);Paraganglioma and gastric stromal sarcoma(B);Pheochromocytoma(B);Paragangliomas 1(B);Cowden syndrome 3(B);Paragangliomas 1(B);not specified(B);Pheochromocytoma(LB);not specified(B);not specified(B);not specified(B);not provided(B) 1/13/2018 -51.6 1.6 B 3 6909 Simple 11214077 G . CI 1 11 Paraganglioma and gastric stromal sarcoma(B);Pheochromocytoma(B);Paragangliomas 1(B);Cowden syndrome 3(B);Paragangliomas 1(B);Pheochromocytoma(LB);not specified(LB);not specified(LB);not specified(LB);not specified(B);not provided(LB);not provided(LB);not specified(B);Hereditary cancer-predisposing syndrome(B) 3/13/2018 -45.6 1.090909091 B 3 6948 Simple 34767364 A . CI 1 8 "Microcephaly, normal intelligence and immunodeficiency(B);Hereditary cancer-predisposing syndrome(LB);not specified(US);not specified(US);not specified(US);not specified(LB);Hereditary cancer-predisposing syndrome(B);not provided(US)" 1/13/2018 -17.91 1.5 BLB 3 6956 Simple 121908970 T . CI 1 2 not specified(B);not specified(B) 3/21/2016 -9 3.5 BLB 3 7054 Simple 137853054 A . CI 1 4 not provided(US);not provided(LP);Neoplasm of ovary(P);Parkinson disease 2(US) 12/3/2017 8.4 0.5 PLP 3 7098 Simple 75654767 A . CI 1 4 "Primary open angle glaucoma(US);Amyotrophic Lateral Sclerosis, Recessive(LB);Primary open angle glaucoma(LB);Primary open angle glaucoma(B);Amyotrophic lateral sclerosis type 12(B);Glaucoma 1, open angle, e(B)" 12/4/2017 -12.27 1 BLB 3 7099 Simple 11258194 A . CI 1 4 "not specified(B);Primary open angle glaucoma(B);Amyotrophic Lateral Sclerosis, Recessive(B);not specified(B)" 6/29/2016 -22.2 1.75 BLB 3 7126 Simple 74571530 G . CI 1 5 not specified(B);Cystic fibrosis(B);not specified(US);not specified(LB);Pancreatitis(P) 12/10/2017 -8.67 1 BLB 3 7131 Simple 1800091 G . CI 1 4 Cystic fibrosis(B);not specified(B);not specified(B);not specified(US) 12/21/2017 -18.3 0.75 BLB 3 7189 Simple 727504486 TTTTT . CI 1 7 not specified(US);Cystic fibrosis(P);Congenital bilateral absence of the vas deferens(P);not provided(P);Hereditary pancreatitis(P);Cystic fibrosis(LB);not specified(P) 10/31/2017 26.73 0.857142857 P 3 7196 Simple 75789129 G . CI 1 4 Cystic fibrosis(B);not specified(B);Cystic fibrosis(LB);not specified(LB) 12/11/2017 -16.8 1.25 BLB 3 7238 Simple 121909046 G . CI 1 6 Cystic fibrosis(US);Cystic fibrosis(LB);Cystic fibrosis(B);not specified(US);not provided(US);not specified(US) 6/26/2017 -10.17 1 BLB 3 7323 Simple 113487931 T . CI 1 4 Dyskeratosis congenita autosomal dominant(B);not specified(B);not specified(B);not specified(B) 1/12/2018 -23.4 0.75 BLB 3 7461 Simple 59912467 G . CI 1 11 Hereditary cancer-predisposing syndrome(B);Peutz-Jeghers syndrome(B);Hereditary cancer-predisposing syndrome(B);Hereditary cancer-predisposing syndrome(B);Hereditary cancer-predisposing syndrome(B);Peutz-Jeghers syndrome(LB);Peutz-Jeghers syndrome(B);not specified(B);not specified(B);not specified(B);Hereditary cancer-predisposing syndrome(LB) 1/16/2018 -53.4 1.818181818 B 3 7564 Simple 41298838 A . CI 1 2 DiGeorge sequence(B);Cardiovascular phenotype(B) 11/10/2017 -11.4 1 BLB 3 7739 Simple 79204362 T . CI 1 3 "Glaucoma 3, primary congenital, A(P);Glaucoma 3, primary congenital, A(P);not specified(US)" 3/28/2017 10.5 1.666666667 PLP 3 7879 Simple 76157638 G . CI 1 7 Stargardt disease 1(P);Stargardt disease 1(P);not provided(P);Peripheral neuropathy(US);Abnormal macular morphology(US);Cone-rod dystrophy 3(LP);Stargardt disease 1(P);Inborn genetic diseases(US) 10/19/2017 24.45 2.142857143 P 3 7880 Simple 58331765 T . CI 1 5 "Stargardt Disease, Recessive(LB);Macular degeneration(LB);Cone-Rod Dystrophy, Recessive(LB);Retinitis Pigmentosa, Recessive(LB);Stargardt disease 1(LP)" 12/29/2016 -9 1 BLB 3 7884 Simple 41292677 G . CI 1 7 "Stargardt disease 1(LP);Retinitis Pigmentosa, Recessive(LB);Cone-Rod Dystrophy, Recessive(LB);Stargardt Disease, Recessive(LB);Macular degeneration(LB);not provided(LP);not specified(B)" 2/17/2017 -12.3 1.142857143 BLB 3 7903 Simple 61750126 C . CI 1 6 "not specified(B);Stargardt disease 1(LP);Cone-Rod Dystrophy, Recessive(LB);Macular degeneration(LB);Stargardt Disease, Recessive(LB);Retinitis Pigmentosa, Recessive(LB)" 6/14/2016 -14.1 1.5 BLB 3 7913 Simple 1801581 T . CI 1 6 "not specified(B);not specified(B);Stargardt Disease, Recessive(LB);Macular degeneration(LB);Cone-Rod Dystrophy, Recessive(LB);Retinitis Pigmentosa, Recessive(LB)" 6/14/2016 -19.2 2.333333333 BLB 3 8046 Simple 104894299 T . CI 1 9 "Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency(P);Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency(P);not provided(P);not provided(P);Pena-Shokeir syndrome type I(US);Congenital Myasthenic Syndrome, Recessive(P);Myopathy(LP);Pena-Shokeir syndrome type I(P);Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency(P);Pena-Shokeir syndrome type I(P);Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency(P)" 12/26/2017 39.9 1.777777778 P 3 8148 Simple 55679042 T . CI 1 4 "not specified(B);not specified(LB);Nonsyndromic Hearing Loss, Dominant(LB);not specified(LB)" 10/16/2017 -12.6 2 BLB 3 8150 Simple 33962952 T . CI 1 3 "not specified(B);Nonsyndromic Hearing Loss, Dominant(LB);not specified(B)" 11/10/2017 -12.6 2 BLB 3 8222 Simple 115556836 A . CI 1 6 not specified(B);Holoprosencephaly sequence(LB);Gorlin syndrome(LB);not provided(LB);Hereditary cancer-predisposing syndrome(B);Gorlin syndrome(B) 1/12/2018 -25.2 1.333333333 BLB 3 8223 Simple 199476092 C . CI 1 2 Gorlin syndrome(B);Hereditary cancer-predisposing syndrome(B) 1/8/2018 -12 0.5 BLB 3 8224 Simple 138911275 A . CI 1 3 Gorlin syndrome(LB);not specified(LB);Hereditary cancer-predisposing syndrome(LB) 1/9/2018 -9 0 BLB 3 8278 Simple 72546667 A . CI 1 10 "not specified(B);Limb-girdle muscular dystrophy(B);Cardiovascular phenotype(B);Limb-Girdle Muscular Dystrophy, Dominant(LB);not provided(B);Long QT syndrome(B);not specified(B);Limb-girdle muscular dystrophy, type 1C(B);Distal myopathy, Tateyama type(B);not specified(B);not specified(B)" 8/8/2017 -45.6 2.8 B 3 8279 Simple 116840776 G . CI 1 6 not specified(US);Limb-girdle muscular dystrophy(LB);not specified(B);Long QT syndrome(LB);Cardiovascular phenotype(LB);not specified(LB) 1/6/2018 -16.17 1.666666667 BLB 3 8293 Simple 72546668 T . CI 1 10 not specified(LB);not specified(LB);not specified(B);not specified(B);Long QT syndrome(B);Long QT syndrome(LB);Cardiovascular phenotype(LB);not specified(B);not provided(B);not specified(B) 2/13/2018 -42.3 2 B 3 8402 Simple 72466496 A . CI 1 2 Perry syndrome(LB);Amyotrophic lateral sclerosis type 1(B);Perry syndrome(B);Distal hereditary motor neuronopathy type 7B(B) 1/3/2018 -9 0.5 BLB 3 8617 Simple 2856655 T . CI 1 4 Primary familial hypertrophic cardiomyopathy(LP);not provided(LP);not specified(US);Hypertrophic cardiomyopathy(P) 5/11/2017 11.76 1.5 PLP 3 8776 Simple 45550635 G . CI 1 7 not specified(LB);Primary dilated cardiomyopathy(B);not specified(LB);Familial hypertrophic cardiomyopathy 12(B);Dilated cardiomyopathy 1M(B);Cardiovascular phenotype(LB);not provided(LB);not specified(LB) 1/2/2018 -24.6 1.428571429 BLB 3 8828 Simple 5736 A . CI 1 4 "not provided(B);Pseudohypoaldosteronism, Type I, Recessive(LB);Pseudoprimary hyperaldosteronism(LB);not specified(B)" 11/2/2017 -17.4 1 BLB 3 8844 Simple 35731153 G . CI 1 4 not specified(B);Bronchiectasis with or without elevated sweat chloride 1(US);Bronchiectasis with or without elevated sweat chloride 1(LB);not specified(B) 9/1/2016 -14.07 1.75 BLB 3 8964 Simple 74315298 T . CI 1 4 "not provided(P);not specified(US);Carnitine palmitoyltransferase II deficiency, infantile(LP);Carnitine palmitoyltransferase II deficiency(LP)" 11/14/2017 11.73 1 PLP 3 9008 Simple 28936670 A . CI 1 5 not specified(B);not specified(US);not specified(B);Atrial septal defect 7 with or without atrioventricular conduction defects(B);Cardiovascular phenotype(B) 12/28/2017 -20.07 2.4 BLB 3 9009 Simple 104893904 G . CI 1 4 not specified(US);Atrial septal defect 7 with or without atrioventricular conduction defects(LB);not provided(US);Cardiovascular phenotype(B) 12/12/2017 -9.6 0.5 BLB 3 9018 Simple 137852684 A . CI 1 3 not specified(LB);Atrial septal defect 7 with or without atrioventricular conduction defects(B);Cardiovascular phenotype(LB) 12/16/2017 -12 0 BLB 3 9034 Simple 56208331 A . CI 1 4 Inborn genetic diseases(US);not provided(B);Atrioventricular septal defect 4(B);Pulmonic stenosis(US);Tricuspid regurgitation(US);Pulmonary valve atresia(US) 12/8/2017 -12.51 1.5 BLB 3 9054 Simple 906807 C . CI 1 2 not specified(B);Mitochondrial complex I deficiency(B) 6/14/2016 -9.6 3 BLB 3 9158 Simple 59172778 G . CI 1 2 not specified(B);not provided(B) 11/24/2015 -10.8 2 BLB 3 9227 Simple 35769976 G . CI 1 2 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy(B);not specified(B) 7/12/2017 -12 0.5 BLB 3 9269 Simple 5742912 G . CI 1 4 "not specified(B);not specified(LB);Pseudohypoaldosteronism, Type I, Recessive(LB);Cystic Fibrosis-Like Syndrome(LB)" 6/14/2016 -13.5 1.75 BLB 3 9392 Simple 41261344 T . CI 1 6 Brugada syndrome(B);Brugada syndrome(B);Cardiovascular phenotype(B);Brugada syndrome(LB);not specified(LB);not specified(B) 1/15/2018 -25.8 2 BLB 3 9393 Simple 7626962 T . CI 1 14 "not specified(B);Sick sinus syndrome(LB);Progressive familial heart block(LB);Romano-Ward syndrome(LB);Long QT syndrome(LB);Brugada syndrome(LB);Paroxysmal familial ventricular fibrillation(LB);Dilated Cardiomyopathy, Dominant(LB);not provided(B);not provided(LB);Cardiovascular phenotype(B);not specified(B);Cardiac arrhythmia(B);Brugada syndrome(B)" 2/6/2018 -57.6 1.071428571 B 3 9396 Simple 45620037 A . CI 1 7 not specified(LB);not specified(US);Brugada syndrome(B);not specified(LB);Cardiovascular phenotype(US);not provided(LB);Familial dilated cardiomyopathy(US) 1/4/2018 -14.4 1.285714286 BLB 3 9412 Simple 104894094 A . CI 1 9 not provided(P);Inborn genetic diseases(P);Hereditary cutaneous melanoma(P);Cutaneous melanoma(P);not provided(P);not specified(US);Melanoma-pancreatic cancer syndrome(P);Hereditary cancer-predisposing syndrome(P);Melanoma-pancreatic cancer syndrome(P) 12/20/2017 45.9 0.888888889 P 3 9426 Simple 137854599 T . CI 1 3 Hereditary cutaneous melanoma(US);Hereditary cancer-predisposing syndrome(LP);not provided(P) 8/17/2017 8.7 0 PLP 3 9463 Simple 5030672 A . CI 1 2 Leukocyte adhesion deficiency(LB);Leukocyte adhesion deficiency type 1(B) 12/26/2017 -9 0.5 BLB 3 10366 Simple 2230037 A . CI 1 3 not specified(B);Glucose 6 phosphate dehydrogenase deficiency(LB);not specified(B) 6/14/2016 -13.8 1.666666667 BLB 3 10450 Simple 104894825 G . CI 1 4 "not specified(B);Charcot-Marie-Tooth, X-linked(LB);not specified(LB);Charcot-Marie-Tooth Neuropathy X(B)" 5/12/2017 -18 1 BLB 3 10738 Simple 28935490 A . CI 1 10 not specified(LB);Sudden unexplained death(LB);Fabry disease(LB);Cardiovascular phenotype(B);Fabry disease(LB);Fabry disease(LB);Hypertrophic cardiomyopathy(LB);not provided(LB);not specified(US);not specified(LB) 1/11/2018 -28.5 1.4 B 3 10748 Simple 104894845 T . CI 1 9 Fabry disease(LP);not specified(US);Cardiomyopathy(US);Fabry disease(LP);not provided(P);Fabry disease(US);not specified(US);Fabry disease(P);Cardiovascular phenotype(US) 11/9/2017 14.76 1.555555556 P 3 10768 Simple 199473684 T . CI 1 2 Fabry disease(P);Fabry disease(P) 1/2/2018 10.8 1.5 PLP 3 10885 Simple 2229137 C . CI 1 3 not specified(B);not provided(B);not specified(B) 8/15/2017 -15.6 2.333333333 BLB 3 10984 Simple 606231198 . . CI 1 2 not specified(B);not specified(B) 3/22/2017 -10.2 2.5 BLB 3 11032 Simple 132630309 T . CI 1 6 not specified(B);not provided(B);not specified(LB);not specified(B);Hypohidrotic X-linked ectodermal dysplasia(B);Hypohidrotic X-linked ectodermal dysplasia(P) 12/3/2017 -19.8 1 BLB 3 11267 Simple 41305353 A . CI 1 8 not specified(B);not specified(B);not specified(B);Cardiovascular phenotype(B);Dilated cardiomyopathy 3B(LB);Duchenne muscular dystrophy(B);not specified(B);Duchenne muscular dystrophy(B) 8/8/2017 -40.2 1.75 B 3 11268 Simple 1800278 C . CI 1 8 not specified(B);not specified(B);not specified(B);Cardiovascular phenotype(B);Dilated cardiomyopathy 3B(LB);Duchenne muscular dystrophy(B);not specified(B);Duchenne muscular dystrophy(B) 8/8/2017 -40.2 1.75 B 3 11269 Simple 1800279 C . CI 1 7 not specified(B);not specified(B);not specified(B);Cardiovascular phenotype(B);Dilated cardiomyopathy 3B(LB);Duchenne muscular dystrophy(B);not specified(B) 8/9/2017 -34.2 2 B 3 11439 Simple 104894963 G . CI 1 5 "not specified(B);Congenital heart defects 1, nonsyndromic, 1(LB);Heterotaxy, visceral, X-linked(LB);VACTERL association with hydrocephaly, X-linked(LB);not provided(LB)" 4/27/2017 -15.6 1.8 BLB 3 11724 Simple 45439799 C . CI 1 4 not provided(B);ATR-X syndrome(B);not specified(B);not specified(B) 1/4/2018 -20.4 2.25 BLB 3 11809 Simple 28934904 A . CI 1 10 "not provided(P);Rett syndrome(P);Mental retardation, X-linked, syndromic 13(P);Rett syndrome(P);Rett syndrome(P);not specified(US);Severe neonatal-onset encephalopathy with microcephaly(P);not specified(P);Rett syndrome(P);Inborn genetic diseases(P)" 12/5/2017 50.73 1.4 P 3 11852 Simple 41298135 A . CI 1 5 "not specified(B);not specified(LB);Retinitis pigmentosa-deafness syndrome(LB);Nonsyndromic Hearing Loss, Dominant(LB);Nonsyndromic Hearing Loss, Recessive(LB)" 6/14/2016 -14.4 2.8 BLB 3 12130 Simple 9332739 C . CI 1 3 Macular degeneration(LB);Complement component 2 deficiency(LB);not specified(B) 6/14/2016 -11.4 1.333333333 BLB 3 12148 Simple 35520756 A . CI 1 5 not specified(B);Bardet-Biedl syndrome(LB);not provided(B);Bardet-Biedl syndrome(B);not specified(B) 11/2/2017 -25.8 1.2 BLB 3 12232 Simple 33935154 A . CI 1 10 not specified(B);Hereditary cancer-predisposing syndrome(B);Hereditary diffuse gastric cancer(B);not specified(B);Hereditary diffuse gastric cancer(B);Hereditary cancer-predisposing syndrome(B);Hereditary diffuse gastric cancer(LB);Hereditary diffuse gastric cancer(B);Hereditary cancer-predisposing syndrome(LB);Hereditary cancer-predisposing syndrome(B) 1/25/2018 -46.2 2.2 B 3 12233 Simple 121964872 G . CI 1 5 not specified(LB);Hereditary cancer-predisposing syndrome(LB);Hereditary diffuse gastric cancer(US);Hereditary diffuse gastric cancer(US);not provided(LB) 12/19/2017 -9.57 0.6 BLB 3 12298 Simple 5030732 A . CI 1 2 "Parkinson Disease, Dominant(B);Parkinson disease 5(B)" 6/14/2016 -11.4 1.5 BLB 3 12308 Simple 6339 T . CI 1 4 not specified(B);Hereditary insensitivity to pain with anhidrosis(LB);Hereditary insensitivity to pain with anhidrosis(B);not specified(B) 8/8/2017 -19.2 1.5 BLB 3 12319 Simple 55758736 A . CI 1 5 Maturity onset diabetes mellitus in young(LB);Monogenic diabetes(B);not specified(B);not specified(US);not specified(LB) 4/21/2017 -16.2 2 BLB 3 12348 Simple 121912652 T . CI 1 2 not provided(P);not provided(P) 9/23/2016 11.4 1.5 PLP 3 12364 Simple 28934574 A . CI 1 7 Li-Fraumeni syndrome(P);Hereditary cancer-predisposing syndrome(P);not provided(P);Li-Fraumeni syndrome(P);Hereditary cancer-predisposing syndrome(P);Hereditary cancer-predisposing syndrome(P);Li-Fraumeni syndrome 1(P) 2/4/2018 40.8 0.857142857 P 3 12401 Simple 45516293 C . CI 1 3 not provided(P);Tuberous sclerosis 2(US);Tuberous sclerosis syndrome(P) 8/1/2017 11.7 0.333333333 PLP 3 12411 Simple 121964857 A . CI 1 9 not provided(LP);Familial hypertrophic cardiomyopathy 1(US);not specified(US);Familial hypertrophic cardiomyopathy 2(US);Left ventricular noncompaction 6(US);Familial restrictive cardiomyopathy 3(US);Cardiovascular phenotype(LP);not provided(US);not specified(US);Primary familial hypertrophic cardiomyopathy(P);not specified(US) 1/29/2018 10.35 1.111111111 PLP 3 12502 Simple 34833812 T . CI 1 7 Cardiovascular phenotype(B);Thoracic aortic aneurysm and aortic dissection(LB);Loeys-Dietz syndrome(LB);Marfan syndrome(LB);not specified(LB);Thoracic aortic aneurysm and aortic dissection(B);Familial colorectal cancer(LP) 12/18/2017 -18.6 1.142857143 BLB 3 12707 Simple 17028450 T . CI 1 7 "not specified(B);Primary dilated cardiomyopathy(LB);Dilated cardiomyopathy 1T(US);Loeys-Dietz syndrome 2(B);Cardiovascular phenotype(B);Dilated Cardiomyopathy, Dominant(LB);not specified(B)" 7/24/2017 -26.37 2.142857143 BLB 3 12730 Simple 34094720 A . CI 1 8 "not specified(LB);Idiopathic fibrosing alveolitis, chronic form(B);Dyskeratosis congenita, autosomal dominant, 2(B);Aplastic anemia(LB);Dyskeratosis Congenita, Recessive(LB);Idiopathic fibrosing alveolitis, chronic form(LB);not provided(LB);not specified(LB);not specified(LB)" 1/7/2018 -26.4 1.125 BLB 3 12791 Simple 11203289 C . CI 1 7 Hereditary cancer-predisposing syndrome(B);Gastrointestinal stroma tumor(B);Paragangliomas 4(B);Pheochromocytoma(B);Paraganglioma and gastric stromal sarcoma(LB);Pheochromocytoma(LB);not specified(B);not specified(B);not provided(B) 1/26/2018 -34.8 1.142857143 B 3 12792 Simple 33927012 G . CI 1 10 Hereditary cancer-predisposing syndrome(B);not specified(LB);Paragangliomas 4(B);Gastrointestinal stroma tumor(B);Paragangliomas 4(B);Pheochromocytoma(B);Pheochromocytoma(LB);Paragangliomas 4(B);not specified(LB);not specified(LB);not specified(B);not specified(B) 10/4/2017 -45 1.3 B 3 12846 Simple 35948326 T . CI 1 3 "Spherocytosis, Recessive(LB);not specified(B);not specified(B)" 4/13/2017 -14.4 1.333333333 BLB 3 12859 Simple 7418956 T . CI 1 3 "Hereditary pyropoikilocytosis(LB);Spherocytosis, Recessive(LB);Elliptocytosis(LB)" 6/14/2016 -9 1 BLB 3 13135 Simple 35691292 A . CI 1 2 "not specified(B);Combined cellular and humoral immune defects with granulomas(B);Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive(B)" 10/25/2017 -12 0.5 BLB 3 13408 Simple 16990018 G . CI 1 2 Genetic prion diseases(B);Huntington disease-like 1(B) 11/28/2017 -12 0.5 BLB 3 13427 Simple 121918074 A . CI 1 3 not specified(US);Amyloidogenic transthyretin amyloidosis(B);Cardiovascular phenotype(LB) 1/2/2018 -9.3 0.333333333 BLB 3 13458 Simple 121918095 A . CI 1 4 not specified(B);Amyloidogenic transthyretin amyloidosis(B);not provided(LB);Cardiovascular phenotype(B) 1/19/2018 -19.2 1.25 BLB 3 13477 Simple 74315445 T . CI 1 6 not provided(P);Cardiovascular phenotype(P);Long QT syndrome(P);Arrhythmogenic right ventricular cardiomyopathy(US);Brugada syndrome(US);Sudden unexplained death(US);Jervell and Lange-Nielsen syndrome(LP);Romano-Ward syndrome(LP) 11/30/2017 23.7 0.5 P 3 13479 Simple 1805128 T . CI 1 9 not specified(LB);Long QT syndrome(B);Long QT syndrome(B);Cardiovascular phenotype(LB);not specified(B);Romano-Ward syndrome(LB);Jervell and Lange-Nielsen syndrome(LB);Long QT syndrome(LB);not provided(US) 1/12/2018 -30.9 1.222222222 B 3 13503 Simple 113994094 A . CI 1 12 "Progressive sclerosing poliodystrophy(P);not provided(P);not specified(US);Cerebellar ataxia infantile with progressive external ophthalmoplegia(P);Progressive sclerosing poliodystrophy(P);Mitochondrial DNA depletion syndrome 4B, MNGIE type(P);POLG-Related Spectrum Disorders(P);Global developmental delay(P);not provided(US);Progressive sclerosing poliodystrophy(US);Cerebellar ataxia infantile with progressive external ophthalmoplegia(P);Mitochondrial DNA depletion syndrome 1 (MNGIE type)(LP)" 1/1/2018 47.16 1.25 P 3 13505 Simple 113994096 A . CI 1 10 "not specified(US);Cerebellar ataxia infantile with progressive external ophthalmoplegia(P);Progressive sclerosing poliodystrophy(P);Mitochondrial DNA depletion syndrome 4B, MNGIE type(P);Global developmental delay(P);not provided(P);Progressive sclerosing poliodystrophy(US);not specified(US);Cerebellar ataxia infantile with progressive external ophthalmoplegia(P);Mitochondrial DNA depletion syndrome 1 (MNGIE type)(P)" 1/1/2018 38.16 1.4 P 3 13507 Simple 113994097 G . CI 1 6 not provided(P);Progressive sclerosing poliodystrophy(P);POLG-Related Spectrum Disorders(P);not specified(P);not provided(P);Progressive sclerosing poliodystrophy(US) 1/4/2018 27.3 1.5 P 3 13509 Simple 41549716 C . CI 1 6 not specified(B);not specified(LB);not specified(B);not provided(LB);Progressive sclerosing poliodystrophy(B);not specified(LB) 1/11/2018 -23.7 2.166666667 BLB 3 13586 Simple 28933977 T . CI 1 4 "not specified(B);Hypophosphatemic Rickets, Recessive(LB);Arterial calcification of infancy(LB);not specified(LB)" 6/14/2016 -13.5 1.75 BLB 3 13690 Simple 72552778 A . CI 1 5 "Progressive familial intrahepatic cholestasis 3(US);ABCB4-Related Intrahepatic Cholestasis(P);not provided(LP);Progressive familial intrahepatic cholestasis 3(P);Cholestasis, intrahepatic, of pregnancy 3(P)" 2/9/2017 20.76 1.4 P 3 13691 Simple 58238559 C . CI 1 4 not provided(B);not specified(LB);not specified(LB);not specified(LB) 9/21/2017 -14.1 1.25 BLB 3 13720 Simple 35418374 T . CI 1 3 "Familial hemophagocytic lymphohistiocytosis(LB);not provided(B);Hemophagocytic lymphohistiocytosis, familial, 2(B)" 8/11/2017 -15 0.666666667 BLB 3 13821 Simple 121917710 T . CI 1 7 not specified(B);Pallister-Hall syndrome(LB);Greig cephalopolysyndactyly syndrome(LB);Polydactyly(LB);not specified(LB);not provided(B);Greig cephalopolysyndactyly syndrome(B);Pallister-Hall syndrome(B) 12/8/2017 -28.8 1.142857143 B 3 13936 Simple 77724903 T . CI 1 10 "not specified(LB);not specified(B);Pheochromocytoma(LB);Renal adysplasia(LB);Hirschsprung Disease, Dominant(LB);Multiple endocrine neoplasia(LB);not specified(LB);not specified(LB);Multiple endocrine neoplasia, type 2(B);Hereditary cancer-predisposing syndrome(LB)" 1/12/2018 -35.7 0.9 B 3 13947 Simple 76397662 A . CI 1 4 "Hereditary cancer-predisposing syndrome(B);Multiple endocrine neoplasia, type 2(B);Hirschsprung disease 1(B);not specified(B)" 1/4/2018 -22.8 1.25 BLB 3 13949 Simple 77711105 A . CI 1 5 "Multiple endocrine neoplasia, type 2a(US);Hereditary cancer-predisposing syndrome(LB);Multiple endocrine neoplasia, type 2(LB);Hereditary cancer-predisposing syndrome(LB);not specified(LB)" 12/25/2017 -11.91 1.2 BLB 3 14063 Simple 104893750 T . CI 1 4 not specified(US);not provided(LP);Hypertrophic cardiomyopathy(P);Cardiovascular phenotype(LP) 12/18/2017 11.7 0.75 PLP 3 14064 Simple 104894363 T . CI 1 8 not specified(US);not specified(US);Hypertrophic cardiomyopathy(B);Familial hypertrophic cardiomyopathy 10(LB);Familial hypertrophic cardiomyopathy 10(US);Familial hypertrophic cardiomyopathy 1(LB);Cardiovascular phenotype(US);Primary familial hypertrophic cardiomyopathy(US) 4/5/2018 -13.47 0.625 BLB 3 14126 Simple 267606910 T . CI 1 4 not provided(LP);Hypertrophic cardiomyopathy(P);not provided(US);Familial hypertrophic cardiomyopathy 1(LP) 8/24/2017 11.7 0.5 PLP 3 14151 Simple 143978652 A . CI 1 8 not specified(LB);not specified(US);Primary dilated cardiomyopathy(LB);Familial hypertrophic cardiomyopathy 14(LP);Sudden cardiac death(LP);Cardiovascular phenotype(US);not specified(LB);Familial hypertrophic cardiomyopathy 14(LB);Primary familial hypertrophic cardiomyopathy(US) 1/11/2018 -9.21 1.75 BLB 3 14318 Simple 13447324 T . CI 1 3 not provided(P);Obesity(P);Obesity(P) 6/14/2016 14.4 3 PLP 3 14351 Simple 1800451 T . CI 1 2 Mannose-binding protein deficiency(LB);not specified(B) 6/14/2016 -8.4 1.5 BLB 3 14499 Simple 57520892 A . CI 1 3 "Mandibuloacral dysostosis(P);not provided(P);Charcot-Marie-Tooth disease, type 2(P)" 10/31/2017 16.8 1 P 3 14527 Simple 142000963 T . CI 1 8 "not specified(LB);not provided(LB);not specified(US);Cardiovascular phenotype(US);not specified(LB);Charcot-Marie-Tooth disease, type 2(LB);not provided(US);not specified(US)" 1/3/2018 -12 1 BLB 3 14707 Simple 1799816 T . CI 1 5 not specified(US);not specified(B);Insulin-resistant diabetes mellitus AND acanthosis nigricans(LB);Monogenic diabetes(B);not provided(LB) 8/23/2017 -16.44 1.8 BLB 3 14839 Simple 1494558 C . CI 1 2 Severe Combined Immune Deficiency(B);not specified(B) 6/14/2016 -11.4 1.5 BLB 3 14840 Simple 1494555 A . CI 1 2 Severe Combined Immune Deficiency(B);not specified(B) 6/14/2016 -11.4 1.5 BLB 3 15152 Simple 33946267 G . CI 1 5 Hb SS disease(P);beta Thalassemia(P);not specified(US);not specified(P);beta Thalassemia(LP) 12/12/2017 19.5 1.2 P 3 15302 Simple 33961886 T . CI 1 3 not specified(US);not specified(B);not provided(LB) 12/12/2017 -9 0.666666667 BLB 3 16077 Simple 4151667 A . CI 1 5 Macular degeneration(LB);Atypical hemolytic uremic syndrome(LB);Complement component 2 deficiency(LB);Macular degeneration(LB);not specified(B) 6/14/2016 -17.4 1.2 BLB 3 16320 Simple 558269137 - . CI 1 4 "Dermatitis, atopic, 2(US);Ichthyosis vulgaris(US);not specified(LB);not provided(P);Ichthyosis vulgaris(P)" 10/5/2017 9.03 1.25 PLP 3 16445 Simple 61746008 A . CI 1 15 Marfan syndrome(LB);not specified(LB);Marfan syndrome(LB);Thoracic aortic aneurysm and aortic dissection(LB);Inborn genetic diseases(US);not specified(US);Stiff skin syndrome(LB);Acromicric dysplasia(LB);Geleophysic dysplasia(LB);Marfan syndrome(LB);Thoracic aortic aneurysm and aortic dissection(LB);MASS syndrome(LB);Ectopia lentis(LB);Weill-Marchesani syndrome(LB);Marfan syndrome(US);not provided(LB) 12/14/2017 -36.51 1.133333333 B 3 16451 Simple 137854475 T . CI 1 16 not specified(US);not specified(LB);Marfan syndrome(US);Marfan syndrome(LB);Thoracic aortic aneurysm and aortic dissection(LB);Cardiovascular phenotype(LB);Geleophysic dysplasia(LB);Ectopia lentis(LB);Thoracic aortic aneurysm and aortic dissection(LB);Stiff skin syndrome(LB);MASS syndrome(LB);Marfan syndrome(LB);Weill-Marchesani syndrome(LB);Acromicric dysplasia(LB);not specified(LB);not specified(LB);not provided(LB) 12/29/2017 -41.67 1.125 B 3 16637 Simple 1801710 T . CI 1 6 "Waardenburg syndrome(LB);Hirschsprung Disease, Recessive(LB);not specified(B);not specified(LB);not specified(B);not provided(US)" 10/5/2017 -20.04 1.333333333 BLB 3 16646 Simple 11570255 A . CI 1 4 "Hirschsprung disease 4(US);not specified(B);Hirschsprung Disease, Dominant(LB);not specified(LB)" 10/12/2017 -12.27 1 BLB 3 16818 Simple 121913013 A . CI 1 6 "not specified(LB);Arrhythmogenic right ventricular cardiomyopathy(LB);not specified(LB);Arrhythmogenic right ventricular cardiomyopathy, type 10(LB);Cardiovascular phenotype(LB);not specified(US)" 1/5/2018 -13.8 1.333333333 BLB 3 16846 Simple 121912998 A . CI 1 10 "not specified(LB);not specified(US);Arrhythmogenic right ventricular cardiomyopathy(LB);not specified(US);not specified(LB);Arrhythmogenic right ventricular cardiomyopathy(US);Dilated cardiomyopathy with woolly hair and keratoderma(B);Arrhythmogenic right ventricular cardiomyopathy, type 8(B);Cardiomyopathy, ARVC(LB);Right ventricular cardiomyopathy(LP);Cardiovascular phenotype(LB)" 1/22/2018 -18.12 2.1 BLB 3 17000 Simple 35887622 G . CI 1 16 "Nonsyndromic hearing loss and deafness(P);Deafness, autosomal recessive 1A(P);Deafness, autosomal recessive 1A(P);Deafness, autosomal recessive 1A(P);not provided(P);Mutilating keratoderma(LB);Nonsyndromic Hearing Loss, Dominant(LB);Keratitis-Ichthyosis-Deafness Syndrome(LB);Nonsyndromic Hearing Loss, Recessive(LP);Hystrix-like ichthyosis with deafness(LB);Deafness, autosomal recessive 1A(LP);Deafness, autosomal recessive 1A(US);not specified(P);Deafness, autosomal recessive 1A(P);not provided(US);Deafness, autosomal dominant 3a(P)" 8/17/2017 39.3 1.1875 P 3 17010 Simple 80338942 - . CI 1 15 "Nonsyndromic hearing loss and deafness(P);Hearing impairment(P);not provided(P);Deafness, autosomal recessive 1A(P);Hystrix-like ichthyosis with deafness(LB);Mutilating keratoderma(LB);Nonsyndromic Hearing Loss, Recessive(P);Keratitis-Ichthyosis-Deafness Syndrome(LB);Nonsyndromic Hearing Loss, Dominant(LB);Deafness, autosomal recessive 1A(P);Deafness, autosomal dominant 3a(P);Deafness, autosomal recessive 1A(P);not provided(P);Deafness, autosomal recessive 1A(P);Deafness, autosomal dominant 3a(P)" 8/25/2017 48 1.6 P 3 17023 Simple 72474224 T . CI 1 12 "Deafness, autosomal recessive 1A(LP);not provided(P);Hearing impairment(LP);Deafness, autosomal recessive 1A(US);not specified(P);Deafness, autosomal recessive 1A(LP);Mutilating keratoderma(LP);Hystrix-like ichthyosis with deafness(LP);Keratitis-ichthyosis-deafness syndrome, autosomal dominant(LP);Keratoderma palmoplantar deafness(LP);Knuckle pads, deafness AND leukonychia syndrome(LP);Deafness, autosomal dominant 3a(LP);Deafness, X-linked 2(LP);not provided(P);Deafness, autosomal recessive 1A(P);Deafness, autosomal dominant 3a(P);Nonsyndromic hearing loss and deafness(P);Hearing impairment(P);Deafness, autosomal recessive 1A(P)" 10/5/2017 51.3 1.75 P 3 17164 Simple 117725825 T . CI 1 6 not specified(LB);not specified(LB);Myosclerosis(LB);Collagen VI-related myopathy(LB);not specified(US);Bethlem myopathy 1(LB) 2/28/2018 -14.97 1 BLB 3 17545 Simple 55960271 T . CI 1 5 "not provided(P);Myotonia congenita(LB);not provided(P);Congenital myotonia, autosomal recessive form(P);Congenital myotonia, autosomal dominant form(P);Myopathy(LP);EMG: myopathic abnormalities(LP)" 1/3/2018 17.4 0.8 P 3 17634 Simple 121912775 A . CI 1 8 not specified(US);not specified(US);Long QT syndrome(LB);not specified(US);Timothy syndrome(LB);Brugada syndrome(LB);not provided(LB);Cardiovascular phenotype(B) 12/12/2017 -18.81 1.125 BLB 3 17660 Simple 80357064 C . CI 1 7 "Hereditary cancer-predisposing syndrome(P);not provided(P);Breast-ovarian cancer, familial 1(P);Breast-ovarian cancer, familial 1(P);Breast-ovarian cancer, familial 1(P);Hereditary breast and ovarian cancer syndrome(P);Hereditary breast and ovarian cancer syndrome(P)" 10/30/2017 39.6 1.142857143 P 3 17676 Simple 41293455 C . CI 1 7 "Hereditary cancer-predisposing syndrome(LB);Breast-ovarian cancer, familial 1(US);Breast-ovarian cancer, familial 1(B);Hereditary breast and ovarian cancer syndrome(LB);not specified(LB);Hereditary cancer-predisposing syndrome(LB);not provided(US)" 12/27/2017 -17.01 1.714285714 BLB 3 17752 Simple 5036 C . CI 1 4 "Spherocytosis, Dominant(LB);Distal Renal Tubular Acidosis, Dominant(LB);Hemolytic anemia(LB);not specified(B)" 4/17/2017 -15 1 BLB 3 17890 Simple 5742904 T . CI 1 11 "Familial hypercholesterolemia(P);not provided(P);Familial hypercholesterolemia(P);Familial hypobetalipoproteinemia(US);Familial hypercholesterolemia(P);Hypercholesterolemia, autosomal dominant, type B(P);Hypobetalipoproteinemia, familial, 1(P);Familial hypercholesterolemia(P);Hypobetalipoproteinemia(LP);Familial hypercholesterolemia(P);not provided(P);Familial hypercholesterolemia(P)" 1/11/2018 53.4 1.272727273 P 3 17974 Simple 28931570 A . CI 1 3 not specified(US);Alpha-1-antitrypsin deficiency(P);not provided(LP) 1/20/2017 8.7 1 PLP 3 18011 Simple 121909551 A . CI 1 2 Antithrombin III deficiency(P);Antithrombin III deficiency(P) 1/19/2018 12 0.5 PLP 3 18057 Simple 121912705 A . CI 1 6 not specified(LB);Cardiac arrhythmia(LB);not specified(US);Long QT syndrome(LB);Long QT syndrome(US);Cardiovascular phenotype(US) 2/19/2018 -8.88 1.833333333 BLB 3 18058 Simple 35530544 A . CI 1 6 Cardiac arrhythmia(B);Long QT syndrome(B);Cardiovascular phenotype(B);Long QT syndrome(LB);not provided(LB);not provided(LB) 1/3/2018 -24.6 1.333333333 BLB 3 18059 Simple 121912706 T . CI 1 4 not specified(US);Cardiac arrhythmia(LB);Long QT syndrome(LB);Cardiovascular phenotype(LB) 10/26/2017 -8.4 1.5 BLB 3 18060 Simple 45454496 A . CI 1 7 not specified(B);Cardiac arrhythmia(B);not specified(LB);Long QT syndrome(B);not provided(LB);not provided(LB);Cardiovascular phenotype(B) 12/18/2017 -30.3 1.571428571 B 3 18313 Simple 121434525 G . CI 1 6 not specified(US);Primary dilated cardiomyopathy(LB);not specified(US);Cardiovascular phenotype(US);Dilated cardiomyopathy 1AA(LB);Primary familial hypertrophic cardiomyopathy(LB);not specified(LB) 12/18/2017 -9 1.166666667 BLB 3 21344 Simple 41268673 T . CI 1 6 "not specified(B);not specified(B);Inherited Erythromelalgia(LB);not specified(LB);Hereditary sensory and autonomic neuropathy type IIA(B);Generalized epilepsy with febrile seizures plus, type 7(B);not specified(B)" 8/14/2017 -27.3 1.666666667 B 3 21411 Simple 74582884 A . CI 1 6 not specified(B);not specified(LB);Benign Neonatal Epilepsy(LB);Benign familial neonatal seizures(LB);not specified(LB);Benign familial neonatal seizures(LB) 12/12/2017 -19.5 1.166666667 BLB 3 21412 Simple 118192254 C . CI 1 4 not specified(US);not specified(LB);Benign Neonatal Epilepsy(LB);Benign familial neonatal seizures(LB) 10/19/2017 -9.24 1.25 BLB 3 21483 Simple 80356719 A . CI 1 3 Motor neuron disease(P);not provided(LP);Amyotrophic lateral sclerosis type 10(US);TARDBP-related frontotemporal dementia(US) 8/2/2017 8.4 1 PLP 3 21490 Simple 309458 G . CI 1 2 Primary hyperoxaluria(B);not specified(B) 6/14/2016 -11.4 1.5 BLB 3 21628 Simple 193251130 G . CI 1 4 "Primary autosomal recessive microcephaly 5(US);not specified(B);Primary Microcephaly, Recessive(LB);not specified(B)" 2/7/2017 -15.18 2 BLB 3 21764 Simple 117067974 G . CI 1 4 not specified(B);Benign familial neonatal seizures 1(US);KCNQ2-Related Disorders(LB);Early infantile epileptic encephalopathy(B) 11/6/2017 -13.47 1.75 BLB 3 21795 Simple 118192203 A . CI 1 5 Early infantile epileptic encephalopathy 7(P);Benign familial neonatal seizures 1(P);not provided(P);Early infantile epileptic encephalopathy(US);Early infantile epileptic encephalopathy 7(P) 2/2/2017 21.33 2 P 3 24573 Simple 78972735 T . CI 1 3 "Alport syndrome, X-linked recessive(US);not specified(B);not specified(B)" 12/21/2017 -12.27 1 BLB 3 24880 Simple 34682185 A . CI 1 8 "Multiple endocrine neoplasia, type 2(B);Renal adysplasia(LB);Pheochromocytoma(LB);Hirschsprung Disease, Dominant(LB);Multiple endocrine neoplasia(LB);not provided(B);not specified(US);Hereditary cancer-predisposing syndrome(US)" 1/4/2018 -24.6 0.75 BLB 3 24919 Simple 55846256 T . CI 1 3 "Multiple endocrine neoplasia, type 2(LB);not specified(LB);Hereditary cancer-predisposing syndrome(LB)" 10/18/2017 -8.7 1 BLB 3 24928 Simple 148935214 T . CI 1 5 "Hereditary cancer-predisposing syndrome(US);not provided(B);not specified(LB);not specified(US);Multiple endocrine neoplasia, type 2(LB)" 12/20/2017 -11.7 1.2 BLB 3 24932 Simple 146646971 T . CI 1 4 "Multiple endocrine neoplasia, type 2a(P);not provided(P);Multiple endocrine neoplasia, type 2(P);Hereditary cancer-predisposing syndrome(P)" 12/18/2017 21.6 1.5 P 3 24948 Simple 56195026 A . CI 1 2 "Multiple endocrine neoplasia, type 2(B);Hereditary cancer-predisposing syndrome(LB)" 12/12/2017 -8.7 1 BLB 3 24961 Simple 201620214 A . CI 1 3 "Multiple endocrine neoplasia, type 2(LB);Hereditary cancer-predisposing syndrome(LB);not specified(LB)" 12/23/2017 -8.7 0.666666667 BLB 3 25032 Simple 145388314 T . CI 1 4 not specified(B);Biotinidase deficiency(US);not specified(B);Biotinidase deficiency(B) 11/21/2017 -15.3 2 BLB 3 25371 Simple 201082652 T . CI 1 4 Renal carnitine transport defect(P);not provided(P);Renal carnitine transport defect(US);not specified(US) 12/6/2017 11.4 0.75 PLP 3 29705 Simple 199822819 C . CI 1 7 Fumarase deficiency(P);Multiple cutaneous leiomyomas(US);Fumarase deficiency(LP);Multiple Cutaneous and Uterine Leiomyomas(US);not provided(P);Hereditary cancer-predisposing syndrome(P);not provided(P) 9/19/2017 22.8 1.714285714 P 3 29792 Simple 149617956 A . CI 1 6 Hereditary cancer-predisposing syndrome(P);not specified(US);Tietz syndrome(P);Waardenburg syndrome type 2A(P);Cutaneous malignant melanoma 8(P);not provided(P);Hereditary cancer-predisposing syndrome(LP);not provided(US) 1/22/2018 20.43 0.833333333 P 3 29878 Simple 148772854 T . CI 1 9 "Neuromuscular disease, congenital, with uniform type 1 fiber(LB);Central core disease(LB);Multiminicore Disease(LB);Malignant hyperthermia susceptibility(LB);not specified(LB);not provided(LB);RYR1-Related Disorders(B);not specified(B);not specified(B)" 1/17/2018 -33 1.222222222 B 3 30042 Simple 143247685 C . CI 1 3 not specified(LB);not specified(B);not provided(B) 9/1/2016 -12.3 3 BLB 3 30156 Simple 79691946 T . CI 1 2 not specified(B);Axenfeld-Rieger syndrome type 3(B) 7/19/2017 -11.4 1 BLB 3 30357 Simple 200945460 T . CI 1 10 "not specified(US);Primary erythromelalgia(P);Paroxysmal extreme pain disorder(LB);Familial Febrile Seizures(LB);Small fiber neuropathy(LB);Inherited Erythromelalgia(LB);Congenital Indifference to Pain(LB);Generalized epilepsy with febrile seizures plus(LB);Severe myoclonic epilepsy in infancy(LB);Hereditary sensory and autonomic neuropathy type IIA(US);Generalized epilepsy with febrile seizures plus, type 7(US)" 12/27/2017 -17.34 1.4 BLB 3 30422 Simple 35383149 C . CI 1 5 not specified(B);not specified(B);not specified(B);Congenital disorder of glycosylation type 1C(B);Congenital disorder of glycosylation type 1C(LB) 8/4/2017 -23.1 2.2 BLB 3 30458 Simple 140740776 T . CI 1 8 not specified(B);not specified(B);Hypertrophic cardiomyopathy(B);not specified(B);Cardiovascular phenotype(B);Familial hypertrophic cardiomyopathy 17(B);Familial hypertrophic cardiomyopathy 17(B);Familial hypertrophic cardiomyopathy 17(B) 8/1/2017 -41.4 2.25 B 3 30544 Simple 145303331 C . CI 1 7 "Zunich neuroectodermal syndrome(P);Zunich neuroectodermal syndrome(P);not provided(P);Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome(P);Hypertelorism(US);Bilateral cleft lip and palate(US);Low-set ears(US);Premature birth(US);Wide intermamillary distance(US);Scrotal hypoplasia(US);Postaxial hand polydactyly(US);Camptodactyly of finger(US);not provided(P);Zunich neuroectodermal syndrome(P)" 5/18/2017 32.19 2.285714286 P 3 30567 Simple 146902156 A . CI 1 3 Selective tooth agenesis(LB);Schopf-Schulz-Passarge syndrome(LB);Odontoonychodermal dysplasia(LB) 6/14/2016 -9 1 BLB 3 30994 Simple 146245480 T . CI 1 4 not specified(LB);Familial hypertrophic cardiomyopathy 20(US);not specified(LB);Dilated cardiomyopathy 1CC(B);Familial hypertrophic cardiomyopathy 20(B) 12/29/2017 -11.07 1.75 BLB 3 31791 Simple 71534278 T . CI 1 7 Primary dilated cardiomyopathy(LB);not specified(B);not specified(LB);Dilated cardiomyopathy 1KK(B);Cardiovascular phenotype(B);not specified(LB);not specified(US) 12/13/2017 -25.8 1.428571429 BLB 3 31819 Simple 138313730 A . CI 1 9 not specified(B);Dilated cardiomyopathy 1KK(US);not specified(B);Dilated cardiomyopathy 1KK(B);Cardiovascular phenotype(B);not provided(LB);Familial dilated cardiomyopathy(US);Dilated cardiomyopathy 1KK(LB);Dilated cardiomyopathy 1KK(B) 1/4/2018 -35.37 1.111111111 B 3 31882 Simple 199476315 A . CI 1 6 not provided(P);Primary familial hypertrophic cardiomyopathy(LP);Primary familial hypertrophic cardiomyopathy(P);Primary familial hypertrophic cardiomyopathy(LP);Hypertrophic cardiomyopathy(P);Familial hypertrophic cardiomyopathy 3(P) 1/3/2018 28.2 1.333333333 P 3 31883 Simple 199476316 T . CI 1 5 not specified(US);Primary familial hypertrophic cardiomyopathy(LP);not provided(LP);Hypertrophic cardiomyopathy(P);Cardiovascular phenotype(LP) 12/28/2017 14.55 2 PLP 3 31885 Simple 199476321 C . CI 1 5 not specified(US);not provided(LP);Hypertrophic cardiomyopathy(P);Cardiovascular phenotype(LP);Primary familial hypertrophic cardiomyopathy(LP) 6/20/2017 13.8 1.2 PLP 3 31889 Simple 11558747 C . CI 1 7 "not specified(B);not specified(B);not specified(US);Cardiovascular phenotype(B);Dilated Cardiomyopathy, Dominant(LB);Hypertrophic cardiomyopathy(LB);Hypertrophic cardiomyopathy(B)" 1/23/2017 -25.35 2.857142857 BLB 3 35465 Simple 11558492 G . CI 1 2 Rhizomelic chondrodysplasia punctata(LB);not specified(B) 6/14/2016 -8.4 1.5 BLB 3 35602 Simple 193922394 C . CI 1 4 "Neonatal diabetes mellitus(US);Permanent neonatal diabetes mellitus(LB);Transient Neonatal Diabetes, Dominant(LB);Hyperinsulinism, Dominant/Recessive(LB)" 6/14/2016 -9.15 2.25 BLB 3 35608 Simple 113873225 A . CI 1 5 "not specified(B);Transient Neonatal Diabetes, Dominant(LB);Permanent neonatal diabetes mellitus(LB);Hyperinsulinism, Dominant/Recessive(LB);Neonatal diabetes mellitus(US)" 6/14/2016 -13.95 2.4 BLB 3 35631 Simple 61926078 T . CI 1 5 "not specified(B);not specified(B);Hypertrichotic osteochondrodysplasia(US);Dilated Cardiomyopathy, Dominant(US);Familial atrial fibrillation(US)" 6/14/2016 -8.7 2.4 BLB 3 35662 Simple 192215705 T . CI 1 3 "Polyglandular autoimmune syndrome, type 1(US);not specified(B);Polyglandular autoimmune syndrome, type 1(B)" 12/7/2017 -12.15 2.333333333 BLB 3 35667 Simple 41277546 T . CI 1 3 "Polyglandular autoimmune syndrome, type 1(US);Polyglandular autoimmune syndrome, type 1(B);not specified(B)" 7/31/2017 -12.15 2.333333333 BLB 3 35699 Simple 148013251 CGGCGCGGCG . CI 1 3 Wilson disease(US);Wilson disease(LB);Congenital disorder of glycosylation(B) 6/14/2016 -9.15 2.666666667 BLB 3 35703 Simple 138427376 G . CI 1 7 Wilson disease(US);Wilson disease(US);not specified(B);not specified(US);not provided(LB);Wilson disease(B);not provided(US) 1/22/2018 -15.51 1.142857143 BLB 3 35706 Simple 193922103 C . CI 1 5 Wilson disease(P);not specified(B);Wilson disease(P);not provided(P);Wilson disease(P) 10/31/2017 17.4 2.6 P 3 35719 Simple 74085882 C . CI 1 4 not specified(B);not specified(LB);not specified(B);Wilson disease(B) 11/22/2017 -21 0.5 BLB 3 35722 Simple 140708492 A . CI 1 5 Wilson disease(US);not specified(LB);not specified(B);Wilson disease(B);not specified(US) 2/8/2018 -15.6 0.6 BLB 3 35752 Simple 142863601 T . CI 1 7 Bardet-Biedl syndrome(US);not specified(B);Bardet-Biedl syndrome(B);not specified(LB);not provided(LB);Bardet-Biedl syndrome(B);Bardet-Biedl syndrome(B) 7/26/2017 -26.25 2.714285714 BLB 3 35772 Simple 28730716 C . CI 1 10 "not specified(B);not specified(B);not specified(B);not specified(B);Cardiovascular phenotype(B);Catecholaminergic polymorphic ventricular tachycardia(LB);not provided(B);Catecholaminergic polymorphic ventricular tachycardia(B);Ventricular tachycardia, catecholaminergic polymorphic, 2(B);Ventricular tachycardia, catecholaminergic polymorphic, 2(B)" 1/4/2018 -44.4 3 B 3 35804 Simple 147250678 T . CI 1 9 "Cardiomyopathy(LB);Long QT syndrome(LB);not specified(US);Caveolinopathy(US);Limb-Girdle Muscular Dystrophy, Dominant(US);Hypertrophic cardiomyopathy(US);Long QT syndrome(US);Romano-Ward syndrome(US);Cardiovascular phenotype(LB)" 12/22/2017 -9.27 1.555555556 BLB 3 35835 Simple 1800100 T . CI 1 8 not specified(US);not specified(US);Cystic fibrosis(B);not specified(US);not specified(US);not specified(US);Bronchiectasis with or without elevated sweat chloride 1(US);Cystic fibrosis(US);Hereditary pancreatitis(US);Congenital bilateral absence of the vas deferens(US);not specified(LB) 12/27/2017 -10.47 1 BLB 3 35839 Simple 1800076 A . CI 1 8 not specified(B);Cystic fibrosis(LB);Cystic fibrosis(B);not specified(US);not specified(LB);not provided(US);not specified(US);not specified(LB) 9/7/2017 -20.1 1 BLB 3 35842 Simple 1800103 G . CI 1 4 Cystic fibrosis(B);not specified(US);Bronchiectasis with or without elevated sweat chloride 1(US);Cystic fibrosis(US);Hereditary pancreatitis(US);Congenital bilateral absence of the vas deferens(US);not specified(LB) 1/8/2018 -9.6 0.75 BLB 3 35844 Simple 139379077 G . CI 1 5 Cystic fibrosis(US);Cystic fibrosis(B);not specified(US);not specified(LB);not specified(B) 12/29/2017 -15.45 1.8 BLB 3 35872 Simple 34911792 G . CI 1 5 Cystic fibrosis(B);not specified(LB);not specified(LB);not specified(US);not specified(B) 1/3/2018 -15.6 1.8 BLB 3 35893 Simple 1800073 T . CI 1 7 Cystic fibrosis(B);Cystic fibrosis(US);not specified(US);not specified(US);not specified(US);Bronchiectasis with or without elevated sweat chloride 1(US);Cystic fibrosis(US);Hereditary pancreatitis(US);Congenital bilateral absence of the vas deferens(US);not specified(B) 1/4/2018 -12.9 1 BLB 3 35915 Simple 117672175 A . CI 1 7 "Osteogenesis imperfecta(LB);not specified(LB);Ehlers-Danlos syndrome, type 7A(US);Infantile cortical hyperostosis(US);Osteogenesis Imperfecta, Dominant(US);Osteogenesis imperfecta type I(B);not specified(LB)" 1/23/2018 -13.8 1.857142857 BLB 3 35930 Simple 141726413 A . CI 1 4 Osteogenesis imperfecta(US);not specified(B);not specified(B);Osteogenesis imperfecta type I(B) 1/2/2018 -17.55 2.25 BLB 3 35932 Simple 114322680 A . CI 1 4 "Osteogenesis imperfecta(US);Osteogenesis Imperfecta, Dominant(LB);Ehlers-Danlos syndrome, procollagen proteinase deficient(LB);not specified(B)" 1/17/2017 -12.15 2.25 BLB 3 35981 Simple 61752786 T . CI 1 4 "Congenital adrenal hyperplasia(US);Congenital adrenal hyperplasia(LB);Hyperaldosteronism, familial, type I(LB);not specified(B)" 6/14/2016 -11.55 2.5 BLB 3 35998 Simple 41297018 T . CI 1 5 Severe combined immunodeficiency disease(LP);not provided(LB);not specified(LB);Severe combined immunodeficiency with sensitivity to ionizing radiation(B);not specified(B) 7/31/2017 -15.9 2.2 BLB 3 36005 Simple 151024019 C . CI 1 6 "not specified(LB);Arrhythmogenic right ventricular dysplasia/cardiomyopathy(US);Arrhythmogenic right ventricular cardiomyopathy(LB);not specified(LB);Arrhythmogenic right ventricular cardiomyopathy, type 11(LB);Cardiovascular phenotype(LB)" 12/12/2017 -14.31 1.5 BLB 3 36009 Simple 193922639 A . CI 1 7 "not specified(LB);Arrhythmogenic right ventricular cardiomyopathy(US);Arrhythmogenic right ventricular cardiomyopathy(LB);not specified(LB);Arrhythmogenic right ventricular cardiomyopathy, type 10(B);not provided(LB);Cardiovascular phenotype(LB)" 12/15/2017 -20.31 1.571428571 BLB 3 36015 Simple 17133512 AA . CI 1 9 "not specified(B);not specified(LB);not specified(B);not specified(B);Ectodermal dysplasia skin fragility syndrome(B);Epidermolysis bullosa, lethal acantholytic(B);Cardiomyopathy, ARVC(B);Skin fragility woolly hair syndrome(B);Cardiovascular phenotype(B)" 9/20/2017 -44.7 2.444444444 B 3 36016 Simple 77445784 A . CI 1 8 "not specified(B);not specified(B);not specified(US);Dilated cardiomyopathy with woolly hair and keratoderma(B);Arrhythmogenic right ventricular cardiomyopathy, type 8(B);Skin fragility woolly hair syndrome(LB);Cardiomyopathy, ARVC(LB);Epidermolysis bullosa, lethal acantholytic(LB);Ectodermal dysplasia skin fragility syndrome(LB)" 1/23/2018 -28.41 1.5 B 3 36026 Simple 17604693 T . CI 1 10 "not specified(B);Arrhythmogenic right ventricular cardiomyopathy(B);not specified(LB);Cardiovascular phenotype(B);Cardiomyopathy, ARVC(LB);Epidermolysis bullosa, lethal acantholytic(LB);Ectodermal dysplasia skin fragility syndrome(LB);Skin fragility woolly hair syndrome(LB);Dilated cardiomyopathy with woolly hair and keratoderma(B);Arrhythmogenic right ventricular cardiomyopathy, type 8(B);not specified(B)" 8/15/2017 -37.8 2.2 B 3 36060 Simple 112287730 T . CI 1 15 not specified(LB);Marfan syndrome(B);Marfan syndrome(LB);Marfan syndrome(LB);Thoracic aortic aneurysm and aortic dissection(LB);Cardiovascular phenotype(B);not specified(LB);Geleophysic dysplasia(LB);Thoracic aortic aneurysm and aortic dissection(LB);Ectopia lentis(LB);Acromicric dysplasia(LB);MASS syndrome(LB);Weill-Marchesani syndrome(LB);Marfan syndrome(LB);Stiff skin syndrome(LB);not specified(LB) 1/5/2018 -48 1.333333333 B 3 36086 Simple 111671429 A . CI 1 14 not specified(LB);not specified(B);not specified(US);MASS syndrome(LB);Marfan syndrome(LB);Acromicric dysplasia(LB);Weill-Marchesani syndrome(LB);Stiff skin syndrome(LB);Geleophysic dysplasia(LB);Thoracic aortic aneurysm and aortic dissection(LB);Ectopia lentis(LB);Marfan syndrome(LB);Thoracic aortic aneurysm and aortic dissection(LB);not specified(B);Cardiovascular phenotype(LB) 1/12/2018 -43.2 1.214285714 B 3 36104 Simple 112084407 T . CI 1 9 not specified(LB);Cardiovascular phenotype(B);Geleophysic dysplasia(LB);Acromicric dysplasia(LB);Marfan syndrome(LB);Ectopia lentis(LB);Marfan syndrome(LB);Thoracic aortic aneurysm and aortic dissection(LB);not specified(US);not specified(US) 2/28/2018 -23.25 1.555555556 BLB 3 36111 Simple 140537304 T . CI 1 4 not specified(US);Marfan syndrome(US);not specified(B);Marfan syndrome(LB);Thoracic aortic aneurysm and aortic dissection(LB) 11/6/2017 -9.57 0.75 BLB 3 36137 Simple 141918432 G . CI 1 8 "Cardiomyopathy(LB);not specified(LB);not specified(LB);Fukuyama congenital muscular dystrophy(US);Dilated Cardiomyopathy, Recessive(US);Walker-Warburg congenital muscular dystrophy(LB);not specified(US);Cardiovascular phenotype(US)" 1/31/2018 -11.4 1.375 BLB 3 36208 Simple 144798843 T . CI 1 6 "Maturity-onset diabetes of the young, type 2(US);Hyperinsulinism, Dominant(LB);Permanent neonatal diabetes mellitus(LB);Transient Neonatal Diabetes, Recessive(LB);Maturity onset diabetes mellitus in young(LB);not specified(LB)" 6/1/2017 -15.15 1.833333333 BLB 3 36222 Simple 142829768 A . CI 1 6 "Maturity-onset diabetes of the young, type 2(US);not specified(LB);Maturity onset diabetes mellitus in young(LB);Permanent neonatal diabetes mellitus(LB);Transient Neonatal Diabetes, Recessive(LB);Hyperinsulinism, Dominant(LB)" 6/14/2016 -14.85 2 BLB 3 36353 Simple 142204928 A . CI 1 5 "not provided(US);Diabetes mellitus type 2(US);Hyperinsulinism, Dominant(LB);Maturity onset diabetes mellitus in young(LB);not specified(B)" 11/14/2016 -12.48 1.8 BLB 3 36412 Simple 193922357 GCCGCC . CI 1 5 "Maturity-onset diabetes of the young, type 4(B);Neonatal diabetes mellitus(US);not specified(B);Monogenic diabetes(LB);not specified(B)" 11/14/2017 -17.25 3.2 BLB 3 36426 Simple 193922705 A . CI 1 6 "not specified(LB);not specified(B);not specified(LB);Naxos disease(LB);Arrhythmogenic right ventricular cardiomyopathy, type 12(LB);Cardiomyopathy, ARVC(US);Naxos disease(US)" 12/11/2017 -13.2 1.666666667 BLB 3 36429 Simple 36210421 A . CI 1 8 Torsades de pointes(B);Sudden unexplained death(LB);Long QT syndrome 2(US);Cardiovascular phenotype(B);Long QT syndrome(LB);Long QT syndrome(B);not specified(B);not provided(LB) 1/22/2018 -29.97 1.75 B 3 36448 Simple 45529531 G . CI 1 10 "not specified(B);Myofibrillar myopathy, ZASP-related(US);Dilated Cardiomyopathy, Dominant(US);Left ventricular noncompaction cardiomyopathy(US);Myofibrillar Myopathy, Dominant(US);Myofibrillar myopathy, ZASP-related(B);not specified(B);Cardiovascular phenotype(B);Cardiomyopathy(LB);not specified(B)" 12/15/2017 -29.1 2 B 3 36451 Simple 72658861 C . CI 1 10 Familial hypercholesterolemia(US);Familial hypercholesterolemia(LB);Familial hypercholesterolemia(B);Familial hypercholesterolemia(B);Familial hypercholesterolemia(B);Familial hypercholesterolemia(LB);Familial hypercholesterolemia(B);Familial hypercholesterolemia(B);Familial hypercholesterolemia(B);not specified(B) 1/22/2018 -45.45 1.8 B 3 36453 Simple 137943601 A . CI 1 9 Familial hypercholesterolemia(P);Familial hypercholesterolemia(LP);Familial hypercholesterolemia(LP);Familial hypercholesterolemia(LP);Familial hypercholesterolemia(LP);Familial hypercholesterolemia(P);Familial hypercholesterolemia(P);Familial hypercholesterolemia(LP);Familial hypercholesterolemia(LP) 1/23/2018 32.1 1.777777778 P 3 36460 Simple 72658867 A . CI 1 10 Familial hypercholesterolemia(US);Familial hypercholesterolemia(LB);Familial hypercholesterolemia(LB);Familial hypercholesterolemia(B);Familial hypercholesterolemia(B);Familial hypercholesterolemia(LB);Familial hypercholesterolemia(LB);Familial hypercholesterolemia(LB);Familial hypercholesterolemia(LB);not specified(B) 1/26/2018 -34.95 1.6 B 3 36461 Simple 45508991 T . CI 1 13 Familial hypercholesterolemia(B);Familial hypercholesterolemia(B);Familial hypercholesterolemia(B);Familial hypercholesterolemia(B);Familial hypercholesterolemia(B);Familial hypercholesterolemia(B);Familial hypercholesterolemia(LB);Familial hypercholesterolemia(B);Familial hypercholesterolemia(B);Familial hypercholesterolemia(LB);not specified(B);Familial hypercholesterolemia(US);Familial hypercholesterolemia(B) 1/15/2018 -62.55 1.615384615 B 3 36462 Simple 137853964 A . CI 1 10 Familial hypercholesterolemia(LB);Familial hypercholesterolemia(B);not specified(US);Familial hypercholesterolemia(US);Familial hypercholesterolemia(LB);Familial hypercholesterolemia(LP);Familial hypercholesterolemia(US);Familial hypercholesterolemia(US);Familial hypercholesterolemia(B);not provided(US) 11/2/2017 -16.17 0.8 BLB 3 36464 Simple 146354103 T . CI 1 7 Familial hypercholesterolemia(LB);Familial hypercholesterolemia(US);Familial hypercholesterolemia(B);not specified(LB);Familial hypercholesterolemia(US);not specified(LB);Familial hypercholesterolemia(B) 12/6/2017 -19.17 1.857142857 BLB 3 36469 Simple 76210637 C . CI 1 5 Gonadotropin-independent familial sexual precocity(LB);Leydig cell agenesis(LB);Gonadotropin-independent familial sexual precocity(LB);Hypergonadotropic hypogonadism(LB);not specified(US) 9/12/2017 -10.8 1.8 BLB 3 36476 Simple 267607578 A . CI 1 7 "not specified(US);Dilated cardiomyopathy 1A(LP);Primary dilated cardiomyopathy(LP);not specified(LP);Cardiovascular phenotype(LP);Charcot-Marie-Tooth disease, type 2(LP);Primary dilated cardiomyopathy(LP)" 2/13/2018 15.6 1.857142857 P 3 36491 Simple 193922677 T . CI 1 4 Rett syndrome(US);not specified(LB);not provided(US);Severe neonatal-onset encephalopathy with microcephaly(B) 12/13/2017 -9.54 1.25 BLB 3 36499 Simple 11466026 C . CI 1 6 Familial Mediterranean fever(US);not specified(US);not specified(LB);Familial Mediterranean fever(B);not provided(US);not specified(US) 11/1/2017 -10.2 0.666666667 BLB 3 36506 Simple 11466045 G . CI 1 7 Familial Mediterranean fever(US);not specified(LB);not specified(LB);Familial Mediterranean fever(US);not specified(US);Familial Mediterranean fever(LB);not provided(US) 1/4/2018 -9.75 1.571428571 BLB 3 36524 Simple 138770431 T . CI 1 7 "Multiple endocrine neoplasia, type 1(B);not specified(LB);Multiple endocrine neoplasia(US);Hyperparathyroidism(US);not specified(B);Hereditary cancer-predisposing syndrome(LB);not specified(B)" 1/2/2018 -23.4 1.285714286 BLB 3 36543 Simple 77120160 A . CI 1 4 not specified(B);Lynch syndrome(B);Lynch syndrome(B);Hereditary cancer-predisposing syndrome(B) 3/28/2016 -19.8 2.75 BLB 3 36607 Simple 193922380 C . CI 1 11 not specified(LB);Primary familial hypertrophic cardiomyopathy(US);not specified(LB);not specified(US);Primary familial hypertrophic cardiomyopathy(LB);Hypertrophic cardiomyopathy(LB);not specified(US);Left ventricular noncompaction 10(US);Familial hypertrophic cardiomyopathy 4(US);Cardiovascular phenotype(US);not specified(LB) 2/22/2018 -15.63 1.727272727 BLB 3 36610 Simple 11570112 C . CI 1 13 "Cardiovascular phenotype(B);Dilated Cardiomyopathy, Dominant(LB);Hypertrophic cardiomyopathy(LB);Left ventricular noncompaction cardiomyopathy(LB);not specified(B);not specified(LB);Familial hypertrophic cardiomyopathy 4(B);Familial hypertrophic cardiomyopathy 4(B);not specified(B);not specified(B);not specified(US);Primary familial hypertrophic cardiomyopathy(B);Hypertrophic cardiomyopathy(B)" 1/18/2018 -54.81 1.769230769 B 3 36614 Simple 11570052 T . CI 1 7 not specified(LB);not specified(US);not provided(LB);Hypertrophic cardiomyopathy(B);Cardiovascular phenotype(LB);Familial hypertrophic cardiomyopathy 4(B);not specified(LB) 1/29/2018 -22.11 2 BLB 3 36624 Simple 141564071 - . CI 1 4 "Familial aortopathy(US);not specified(B);Thoracic aortic aneurysm and aortic dissection(LB);Aortic aneurysm, familial thoracic 4(B)" 3/12/2018 -13.95 2.5 BLB 3 36628 Simple 1064795889 - . CI 1 6 "Cardiomyopathy(LB);Familial hypertrophic cardiomyopathy 14(B);Hypertrophic cardiomyopathy(US);Atrial septal defect(US);Dilated Cardiomyopathy, Dominant(US);not specified(B)" 1/18/2018 -14.4 1.5 BLB 3 36630 Simple 193922653 G . CI 1 5 "not specified(B);Dilated Cardiomyopathy, Dominant(US);Hypertrophic cardiomyopathy(US);Atrial septal defect(US);not specified(B)" 1/12/2017 -12.3 1.2 BLB 3 36631 Simple 28730765 T . CI 1 5 "not specified(B);Hypertrophic cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Atrial septal defect(US);not specified(B)" 10/5/2016 -9.9 2 BLB 3 36652 Simple 34396614 G . CI 1 5 not specified(B);not specified(B);not specified(B);Familial hypertrophic cardiomyopathy 1(B);Hypertrophic cardiomyopathy(US) 8/4/2017 -17.7 3 BLB 3 36681 Simple 146102241 T . CI 1 10 "Cardiomyopathy(LB);not specified(LB);Arrhythmogenic right ventricular cardiomyopathy(US);not specified(LB);Arrhythmogenic right ventricular cardiomyopathy(B);not specified(B);Arrhythmogenic right ventricular cardiomyopathy, type 9(LB);Cardiovascular phenotype(B);not provided(LB);not specified(US)" 12/22/2017 -26.61 2.8 BLB 3 36696 Simple 148197254 T . CI 1 7 "not specified(B);not specified(LB);Glycogen storage disease of heart, lethal congenital(B);Cardiovascular phenotype(LB);Wolff-Parkinson-White syndrome(US);Glycogen storage disease of heart, lethal congenital(US);Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome(US)" 1/19/2018 -15 2 BLB 3 36697 Simple 79474211 T . CI 1 8 "Wolff-Parkinson-White pattern(US);Glycogen storage disease of heart, lethal congenital(B);Cardiovascular phenotype(B);Glycogen storage disease of heart, lethal congenital(LB);Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome(LB);Wolff-Parkinson-White syndrome(LB);not specified(B);not specified(B)" 1/22/2018 -29.67 1.75 B 3 36745 Simple 193922628 T . CI 1 6 "not specified(LB);not specified(B);Catecholaminergic polymorphic ventricular tachycardia(B);Cardiovascular phenotype(LB);Catecholaminergic polymorphic ventricular tachycardia(US);Cardiomyopathy, ARVC(US)" 1/15/2018 -15.6 2 BLB 3 36765 Simple 41315493 A . CI 1 6 not specified(B);not specified(B);Atrial fibrillation(LB);Brugada syndrome(LB);not specified(B);Brugada syndrome(B);Cardiovascular phenotype(B) 1/23/2018 -26.1 3 BLB 3 36769 Simple 190139590 T . CI 1 5 Pheochromocytoma(LP);not specified(LB);Gastrointestinal stroma tumor(B);Paragangliomas 4(B);Pheochromocytoma(B);not specified(LB);not provided(LB) 7/7/2017 -12.9 1.8 BLB 3 36777 Simple 139532210 G . CI 1 3 Cardiac arrhythmia(US);Long QT syndrome(B);not specified(B) 10/11/2017 -11.55 2.666666667 BLB 3 36778 Simple 111966833 A . CI 1 2 Hereditary pancreatitis(B);not specified(B) 12/27/2017 -12 0.5 BLB 3 36799 Simple 193922579 T . CI 1 3 "Maturity-onset diabetes of the young, type 3(US);Maturity onset diabetes mellitus in young(LB);not specified(B)" 3/29/2017 -9.15 2.666666667 BLB 3 36838 Simple 141166864 G . CI 1 4 "Familial hypoplastic, glomerulocystic kidney(US);Familial hypoplastic, glomerulocystic kidney(LB);not specified(LB);not specified(B)" 4/11/2017 -12.15 2.25 BLB 3 36859 Simple 35719192 A . CI 1 9 not specified(B);not specified(LB);Loeys-Dietz syndrome(US);Cardiovascular phenotype(LB);Thoracic aortic aneurysm and aortic dissection(LB);Marfan syndrome(LB);Loeys-Dietz syndrome(LB);Thoracic aortic aneurysm and aortic dissection(LB);not specified(LB) 12/4/2017 -23.37 1.888888889 BLB 3 36909 Simple 58371799 CCCC . CI 1 3 "Wiskott-Aldrich syndrome(US);not specified(B);Severe congenital neutropenia X-linked(B);Thrombocytopenia, X-linked(B);Wiskott-Aldrich syndrome(B)" 12/18/2017 -11.55 2.666666667 BLB 3 36912 Simple 145040665 A . CI 1 5 "not specified(US);not provided(LB);not specified(LB);not specified(LB);Severe congenital neutropenia X-linked(B);Thrombocytopenia, X-linked(B);Wiskott-Aldrich syndrome(B)" 1/9/2018 -15 1 BLB 3 36974 Simple 1801316 C . CI 1 3 not specified(B);not specified(B);not provided(B) 1/5/2017 -15 2.666666667 BLB 3 37077 Simple 6336 T . CI 1 3 Hereditary insensitivity to pain with anhidrosis(LB);Hereditary insensitivity to pain with anhidrosis(B);not specified(B) 8/8/2017 -15 0.666666667 BLB 3 37084 Simple 114814747 A . CI 1 3 not specified(B);Holoprosencephaly sequence(LB);Holoprosencephaly 9(B);Culler-Jones syndrome(B) 10/29/2017 -13.8 1.333333333 BLB 3 37380 Simple 28903091 A . CI 1 5 Hereditary cancer-predisposing syndrome(B);not specified(US);not specified(US);Hereditary cancer-predisposing syndrome(B);Nijmegen breakage syndrome-like disorder(US) 1/11/2018 -11.55 2.2 BLB 3 37381 Simple 181016343 A . CI 1 8 Hereditary cancer-predisposing syndrome(LB);not specified(US);Hereditary cancer-predisposing syndrome(B);not specified(US);Hereditary cancer-predisposing syndrome(US);Nijmegen breakage syndrome-like disorder(US);not specified(US);not provided(US) 1/7/2018 -10.71 0.875 BLB 3 37389 Simple 80357015 A . CI 1 4 Hereditary breast and ovarian cancer syndrome(B);Hereditary cancer-predisposing syndrome(LB);not specified(LB);not specified(LB) 12/7/2017 -14.7 1 BLB 3 37392 Simple 80357498 T . CI 1 4 "Hereditary cancer-predisposing syndrome(P);not provided(P);Breast-ovarian cancer, familial 1(P);Hereditary cancer-predisposing syndrome(P)" 1/9/2017 22.2 1.75 P 3 37399 Simple 80357253 C . CI 1 4 Hereditary breast and ovarian cancer syndrome(LB);Hereditary cancer-predisposing syndrome(LB);not specified(LB);not provided(US) 11/13/2017 -8.7 1 BLB 3 37430 Simple 80358329 - . CI 1 11 "Breast-ovarian cancer, familial 1(LB);Hereditary cancer-predisposing syndrome(B);not specified(LB);Breast-ovarian cancer, familial 1(B);Breast-ovarian cancer, familial 1(US);Hereditary breast and ovarian cancer syndrome(LB);not specified(LB);not specified(LB);Hereditary cancer-predisposing syndrome(LB);Breast-ovarian cancer, familial 1(US);Hereditary breast and ovarian cancer syndrome(B)" 2/5/2018 -33.27 1.636363636 B 3 37440 Simple 80356994 A . CI 1 6 Hereditary cancer-predisposing syndrome(LB);not specified(US);not specified(LB);not specified(US);Hereditary cancer-predisposing syndrome(LB);Hereditary breast and ovarian cancer syndrome(LB) 1/5/2018 -12.21 1.5 BLB 3 37464 Simple 55914168 A . CI 1 7 "Hereditary cancer-predisposing syndrome(LB);not specified(US);Breast-ovarian cancer, familial 1(US);not provided(LB);Breast-ovarian cancer, familial 1(US);Breast-ovarian cancer, familial 1(US);Hereditary breast and ovarian cancer syndrome(LB)" 12/6/2017 -9.78 1.428571429 BLB 3 37465 Simple 41286298 C . CI 1 5 Hereditary cancer-predisposing syndrome(LB);not specified(LB);not specified(US);Hereditary breast and ovarian cancer syndrome(US);Hereditary breast and ovarian cancer syndrome(B) 1/8/2018 -12.15 1.8 BLB 3 37470 Simple 80357108 C . CI 1 6 "Hereditary cancer-predisposing syndrome(B);Breast-ovarian cancer, familial 1(LB);Breast-ovarian cancer, familial 1(US);not specified(LB);not provided(US);Hereditary breast and ovarian cancer syndrome(LB)" 12/5/2017 -14.1 1.333333333 BLB 3 37487 Simple 397507204 C . CI 1 5 Hereditary cancer-predisposing syndrome(LB);not specified(LB);Hereditary breast and ovarian cancer syndrome(US);Hereditary cancer-predisposing syndrome(LB);not provided(US) 10/2/2017 -9.3 0.8 BLB 3 37488 Simple 80357361 T . CI 1 5 "Hereditary cancer-predisposing syndrome(B);Breast-ovarian cancer, familial 1(US);not specified(LB);not specified(US);Hereditary breast and ovarian cancer syndrome(LB)" 11/16/2017 -11.37 1.4 BLB 3 37499 Simple 80358113 T . CI 1 5 "not specified(B);not specified(LB);Hereditary breast and ovarian cancer syndrome(B);Breast-ovarian cancer, familial 1(B);Hereditary cancer-predisposing syndrome(LB)" 12/28/2017 -21.3 2 BLB 3 37504 Simple 80357311 C . CI 1 6 "Hereditary cancer-predisposing syndrome(LB);Breast-ovarian cancer, familial 1(US);not specified(LB);Hereditary cancer-predisposing syndrome(LB);not provided(US);Hereditary breast and ovarian cancer syndrome(US)" 12/19/2017 -8.97 1.333333333 BLB 3 37506 Simple 80357049 A . CI 1 4 Hereditary breast and ovarian cancer syndrome(LB);Hereditary cancer-predisposing syndrome(LB);not specified(LB);Hereditary cancer-predisposing syndrome(LB) 12/21/2017 -11.7 0.75 BLB 3 37527 Simple 80356919 C . CI 1 5 "Breast-ovarian cancer, familial 1(US);not specified(LB);not specified(US);Hereditary cancer-predisposing syndrome(B);Hereditary breast and ovarian cancer syndrome(US)" 7/19/2017 -8.7 1 BLB 3 37541 Simple 41293451 G . CI 1 5 "Hereditary cancer-predisposing syndrome(B);not specified(LB);Breast-ovarian cancer, familial 1(US);not provided(US);Hereditary breast and ovarian cancer syndrome(LB)" 1/10/2018 -11.4 1 BLB 3 37549 Simple 80357280 C . CI 1 8 "Hereditary breast and ovarian cancer syndrome(B);not specified(LB);Hereditary cancer-predisposing syndrome(B);not specified(US);Hereditary breast and ovarian cancer syndrome(US);not provided(LB);Breast-ovarian cancer, familial 1(B);Breast-ovarian cancer, familial 1(B)" 1/19/2018 -28.68 1.375 B 3 37561 Simple 80357407 T . CI 1 4 Hereditary breast and ovarian cancer syndrome(LB);not specified(LB);Hereditary cancer-predisposing syndrome(B);not provided(US) 12/6/2017 -11.07 1.25 BLB 3 37566 Simple 80358015 C . CI 1 5 "Hereditary cancer-predisposing syndrome(LP);Breast-ovarian cancer, familial 1(US);not provided(LP);Hereditary breast and ovarian cancer syndrome(P);Hereditary breast and ovarian cancer syndrome(US)" 11/13/2017 10.2 0.8 PLP 3 37575 Simple 80357353 C . CI 1 4 Hereditary breast and ovarian cancer syndrome(LB);not specified(LB);Hereditary cancer-predisposing syndrome(LB);Hereditary cancer-predisposing syndrome(LB) 9/5/2017 -11.7 1 BLB 3 37597 Simple 80357389 T . CI 1 5 "Hereditary cancer-predisposing syndrome(P);Breast-ovarian cancer, familial 1(P);Breast-ovarian cancer, familial 1(LP);Breast-ovarian cancer, familial 1(P);not provided(P)" 6/29/2017 24.9 1.6 P 3 37600 Simple 28897674 G . CI 1 6 "Hereditary cancer-predisposing syndrome(LB);not specified(LB);Breast-ovarian cancer, familial 1(US);Hereditary cancer-predisposing syndrome(LB);not provided(US);Hereditary breast and ovarian cancer syndrome(LB)" 12/18/2017 -12.3 1 BLB 3 37606 Simple 80358005 A . CI 1 5 "Breast-ovarian cancer, familial 1(LB);not specified(B);Hereditary breast and ovarian cancer syndrome(LB);Hereditary cancer-predisposing syndrome(B);not provided(US)" 11/21/2017 -16.2 1.8 BLB 3 37612 Simple 80356943 C . CI 1 6 Hereditary cancer-predisposing syndrome(US);not specified(US);not specified(LB);not specified(US);not specified(US);Hereditary breast and ovarian cancer syndrome(B) 12/18/2017 -10.11 1.166666667 BLB 3 37613 Simple 1799966 A . CI 1 6 Hereditary cancer-predisposing syndrome(LB);not specified(LB);not specified(LB);Hereditary cancer-predisposing syndrome(LB);not provided(US);Hereditary breast and ovarian cancer syndrome(LB) 12/25/2017 -15 1 BLB 3 37614 Simple 80356862 C . CI 1 10 "Hereditary cancer-predisposing syndrome(P);Breast-ovarian cancer, familial 1(LP);Breast-ovarian cancer, familial 1(P);Hereditary breast and ovarian cancer syndrome(P);Hereditary breast and ovarian cancer syndrome(LP);not provided(P);Hereditary cancer-predisposing syndrome(LP);not provided(US);Hereditary breast and ovarian cancer syndrome(LP);not provided(LP)" 11/14/2017 36.9 1.3 P 3 37625 Simple 80357061 C . CI 1 4 "Hereditary breast and ovarian cancer syndrome(P);Hereditary cancer-predisposing syndrome(P);Breast-ovarian cancer, familial 1(P);Hereditary breast and ovarian cancer syndrome(LP)" 2/2/2017 19.8 1.5 P 3 37627 Simple 80357034 T . CI 1 3 Hereditary breast and ovarian cancer syndrome(LP);not provided(LP);Hereditary cancer-predisposing syndrome(LP) 8/30/2017 9 0.333333333 PLP 3 37628 Simple 80357034 A . CI 1 4 Hereditary breast and ovarian cancer syndrome(LP);not specified(US);not provided(LP);Hereditary cancer-predisposing syndrome(LP) 4/18/2017 8.73 1.25 PLP 3 37636 Simple 41293459 T . CI 1 7 "Hereditary breast and ovarian cancer syndrome(P);Breast-ovarian cancer, familial 1(LP);Hereditary cancer-predisposing syndrome(P);not provided(LP);Hereditary breast and ovarian cancer syndrome(LP);Hereditary cancer-predisposing syndrome(LP);Hereditary breast and ovarian cancer syndrome(LP)" 12/12/2017 26.1 1.142857143 P 3 37641 Simple 80358114 C . CI 1 3 not specified(B);Hereditary breast and ovarian cancer syndrome(B);Hereditary cancer-predisposing syndrome(LB) 9/14/2017 -13.8 1 BLB 3 37648 Simple 45553935 G . CI 1 8 "Hereditary cancer-predisposing syndrome(P);not provided(LP);not provided(LP);Hereditary breast and ovarian cancer syndrome(P);Breast-ovarian cancer, familial 1(P);Hereditary cancer-predisposing syndrome(LP);Hereditary breast and ovarian cancer syndrome(P);Hereditary breast and ovarian cancer syndrome(LP)" 11/25/2017 34.8 0.875 P 3 37659 Simple 55808233 G . CI 1 8 "Hereditary cancer-predisposing syndrome(B);not specified(LB);Breast-ovarian cancer, familial 1(LB);Hereditary breast and ovarian cancer syndrome(LB);Hereditary breast and ovarian cancer syndrome(B);Hereditary breast and ovarian cancer syndrome(US);Hereditary cancer-predisposing syndrome(LB);not provided(B)" 2/1/2018 -27.81 1.875 B 3 37670 Simple 1800751 C . CI 1 5 "Breast-ovarian cancer, familial 1(P);Breast-ovarian cancer, familial 1(P);not provided(LP);Breast-ovarian cancer, familial 1(P);Hereditary cancer-predisposing syndrome(US)" 11/29/2017 19.5 1 P 3 37672 Simple 80357477 C . CI 1 4 "Hereditary cancer-predisposing syndrome(LP);Hereditary breast and ovarian cancer syndrome(US);Breast-ovarian cancer, familial 1(P);Hereditary breast and ovarian cancer syndrome(LP)" 7/14/2016 10.83 1.75 PLP 3 37676 Simple 397507251 C . CI 1 4 "Hereditary breast and ovarian cancer syndrome(LB);Breast-ovarian cancer, familial 1(LB);not specified(LB);not specified(LB)" 6/12/2017 -11.7 1 BLB 3 37678 Simple 273902774 - . CI 1 5 "not specified(LB);Hereditary breast and ovarian cancer syndrome(B);Breast-ovarian cancer, familial 1(LB);not provided(LB);not specified(US)" 1/30/2018 -15.3 0.6 BLB 3 37685 Simple 80358133 C . CI 1 5 "Breast-ovarian cancer, familial 1(US);not specified(LB);not specified(US);Hereditary breast and ovarian cancer syndrome(LB);Hereditary cancer-predisposing syndrome(LB)" 9/5/2017 -9.27 1.2 BLB 3 37690 Simple 80357088 A . CI 1 5 "not specified(LB);Hereditary cancer-predisposing syndrome(LB);Breast-ovarian cancer, familial 1(US);not specified(US);Hereditary cancer-predisposing syndrome(LB)" 8/29/2017 -8.4 1.4 BLB 3 37700 Simple 56328013 T . CI 1 5 not specified(LB);Hereditary breast and ovarian cancer syndrome(B);not specified(LB);Hereditary cancer-predisposing syndrome(LB);not provided(LB) 12/26/2017 -18 0.6 BLB 3 37702 Simple 80358006 A . CI 1 11 "not specified(B);Breast-ovarian cancer, familial 1(B);Hereditary breast and ovarian cancer syndrome(B);Breast-ovarian cancer, familial 1(B);not specified(LB);Familial cancer of breast(B);not specified(B);not specified(LB);not specified(B);not specified(B);Hereditary cancer-predisposing syndrome(B)" 1/2/2018 -51.3 2.272727273 B 3 37703 Simple 80358179 G . CI 1 7 "Hereditary breast and ovarian cancer syndrome(B);not specified(US);Breast-ovarian cancer, familial 1(US);not specified(B);Hereditary breast and ovarian cancer syndrome(US);not specified(US);Hereditary cancer-predisposing syndrome(LB)" 11/7/2017 -14.25 2.142857143 BLB 3 37709 Simple 55874646 C . CI 1 6 Hereditary cancer-predisposing syndrome(LB);Hereditary breast and ovarian cancer syndrome(US);Hereditary breast and ovarian cancer syndrome(US);not specified(LB);not specified(LB);Hereditary breast and ovarian cancer syndrome(B) 12/28/2017 -14.37 1.5 BLB 3 37714 Simple 138705202 C . CI 1 6 not specified(B);not specified(US);not specified(LB);Hereditary breast and ovarian cancer syndrome(B);not specified(LB);Hereditary cancer-predisposing syndrome(LB) 11/16/2015 -17.61 3 BLB 3 37717 Simple 276174802 C . CI 1 5 Hereditary breast and ovarian cancer syndrome(US);not specified(LB);not specified(LB);Hereditary cancer-predisposing syndrome(LB);not provided(US) 6/2/2017 -9.21 1.6 BLB 3 37720 Simple 80358393 G . CI 1 6 "Hereditary breast and ovarian cancer syndrome(LB);Hereditary cancer-predisposing syndrome(LB);not specified(LB);Breast-ovarian cancer, familial 2(LB);Hereditary breast and ovarian cancer syndrome(US);not provided(LB)" 11/28/2017 -14.37 1.333333333 BLB 3 37722 Simple 80358398 A . CI 1 5 Hereditary cancer-predisposing syndrome(B);Hereditary breast and ovarian cancer syndrome(LB);not specified(US);not specified(LB);Hereditary breast and ovarian cancer syndrome(LB) 11/3/2017 -14.07 1.6 BLB 3 37727 Simple 397507263 T . CI 1 5 Hereditary breast and ovarian cancer syndrome(LB);not specified(LB);not specified(US);Hereditary cancer-predisposing syndrome(LB);not provided(US) 2/22/2018 -9.6 0.4 BLB 3 37741 Simple 56390402 A . CI 1 7 "Hereditary cancer-predisposing syndrome(B);not specified(LB);Breast-ovarian cancer, familial 2(LB);not specified(LB);not specified(LB);Hereditary cancer-predisposing syndrome(LB);Hereditary breast and ovarian cancer syndrome(B)" 1/11/2018 -24.6 1.428571429 BLB 3 37758 Simple 80358463 G . CI 1 6 "Hereditary cancer-predisposing syndrome(LB);not specified(LB);not specified(US);Breast-ovarian cancer, familial 2(US);not provided(US);Hereditary breast and ovarian cancer syndrome(LB)" 12/27/2017 -9.48 1.5 BLB 3 37760 Simple 80358467 G . CI 1 6 "Hereditary cancer-predisposing syndrome(B);Hereditary breast and ovarian cancer syndrome(LB);Breast-ovarian cancer, familial 2(US);not specified(LB);not specified(US);not provided(LB)" 12/24/2017 -14.28 1.666666667 BLB 3 37781 Simple 55968715 G . CI 1 6 "Hereditary cancer-predisposing syndrome(B);not specified(LB);Breast-ovarian cancer, familial 2(LB);Breast-ovarian cancer, familial 2(US);not specified(B);Hereditary breast and ovarian cancer syndrome(B)" 12/29/2017 -21.57 1.833333333 BLB 3 37794 Simple 80358521 A . CI 1 4 Hereditary breast and ovarian cancer syndrome(LB);Hereditary cancer-predisposing syndrome(B);not specified(LB);not provided(US) 1/12/2018 -11.07 1.25 BLB 3 37798 Simple 80358528 G . CI 1 5 not specified(LB);Hereditary cancer-predisposing syndrome(LB);Hereditary breast and ovarian cancer syndrome(LB);Hereditary breast and ovarian cancer syndrome(LB);not specified(LB) 12/13/2017 -13.2 1.8 BLB 3 37829 Simple 80358572 T . CI 1 7 "Hereditary cancer-predisposing syndrome(LB);not specified(LB);Breast-ovarian cancer, familial 2(US);not provided(LB);Breast-ovarian cancer, familial 2(LB);Breast-ovarian cancer, familial 2(LB);Hereditary breast and ovarian cancer syndrome(B)" 11/7/2017 -20.37 1.285714286 BLB 3 37842 Simple 80358592 G . CI 1 6 "Hereditary cancer-predisposing syndrome(LB);not specified(LB);Breast-ovarian cancer, familial 2(US);Hereditary cancer-predisposing syndrome(LB);not provided(US);Hereditary breast and ovarian cancer syndrome(LB)" 12/27/2017 -11.94 1.333333333 BLB 3 37861 Simple 80359407 - . CI 1 9 Hereditary cancer-predisposing syndrome(LB);not specified(LB);Hereditary breast and ovarian cancer syndrome(US);not specified(US);not specified(LB);not specified(LB);Hereditary cancer-predisposing syndrome(LB);not provided(US);Hereditary breast and ovarian cancer syndrome(B) 12/16/2017 -21.15 1.555555556 BLB 3 37865 Simple 28897723 G . CI 1 5 Hereditary cancer-predisposing syndrome(LB);not specified(US);not specified(LB);not specified(US);Hereditary breast and ovarian cancer syndrome(LB) 12/8/2017 -9.15 1.8 BLB 3 37883 Simple 80359432 - . CI 1 8 "Hereditary cancer-predisposing syndrome(LB);not specified(LB);Breast-ovarian cancer, familial 2(US);not specified(US);not specified(US);Hereditary cancer-predisposing syndrome(B);not provided(US);Hereditary breast and ovarian cancer syndrome(US)" 12/7/2017 -12.45 1.625 BLB 3 37895 Simple 80359442 - . CI 1 4 not specified(LB);Hereditary cancer-predisposing syndrome(LB);Hereditary breast and ovarian cancer syndrome(LB);Hereditary cancer-predisposing syndrome(B) 1/2/2018 -14.7 1 BLB 3 37917 Simple 80358698 G . CI 1 6 Hereditary cancer-predisposing syndrome(B);not specified(US);not specified(LB);not specified(US);not provided(B);Hereditary breast and ovarian cancer syndrome(B) 12/21/2017 -19.59 2.333333333 BLB 3 37927 Simple 80358705 A . CI 1 5 Hereditary breast and ovarian cancer syndrome(B);not specified(LB);Hereditary cancer-predisposing syndrome(LB);not specified(US);not provided(US) 2/21/2018 -12.21 1.2 BLB 3 37932 Simple 80358716 A . CI 1 7 "Hereditary cancer-predisposing syndrome(B);Neoplasm of the breast(US);Breast-ovarian cancer, familial 2(US);not specified(LB);Hereditary cancer-predisposing syndrome(LB);not provided(LB);Hereditary breast and ovarian cancer syndrome(LB)" 12/19/2017 -17.04 1.428571429 BLB 3 37941 Simple 80358730 G . CI 1 7 "Hereditary cancer-predisposing syndrome(LB);Breast-ovarian cancer, familial 2(LB);Breast-ovarian cancer, familial 2(US);not specified(US);not specified(US);Hereditary breast and ovarian cancer syndrome(B);not specified(LB)" 1/3/2018 -15.21 1.285714286 BLB 3 37946 Simple 80358731 A . CI 1 5 Hereditary cancer-predisposing syndrome(LB);not specified(LB);not specified(LB);not provided(B);Hereditary breast and ovarian cancer syndrome(B) 12/29/2017 -20.1 1 BLB 3 37972 Simple 80358776 G . CI 1 5 "Hereditary breast and ovarian cancer syndrome(LB);Hereditary cancer-predisposing syndrome(B);not specified(LB);Breast-ovarian cancer, familial 2(US);Hereditary cancer-predisposing syndrome(LB)" 12/5/2017 -13.47 1.6 BLB 3 37983 Simple 80358784 G . CI 1 8 "not specified(LB);Hereditary cancer-predisposing syndrome(LB);not specified(US);Breast-ovarian cancer, familial 2(US);not specified(US);not specified(US);Hereditary cancer-predisposing syndrome(LB);Hereditary breast and ovarian cancer syndrome(LB)" 12/18/2017 -12.39 1.875 BLB 3 37992 Simple 80358799 C . CI 1 5 "Hereditary breast and ovarian cancer syndrome(LB);not specified(LB);Hereditary cancer-predisposing syndrome(LB);Breast-ovarian cancer, familial 2(US);not provided(US)" 2/15/2018 -9.27 1 BLB 3 37995 Simple 45491005 C . CI 1 6 "Hereditary cancer-predisposing syndrome(B);not specified(LB);Breast-ovarian cancer, familial 2(LB);Hereditary breast and ovarian cancer syndrome(LB);not specified(LB);Hereditary breast and ovarian cancer syndrome(B)" 1/8/2018 -21.3 1.833333333 BLB 3 38003 Simple 56157628 A . CI 1 7 Hereditary cancer-predisposing syndrome(LB);not specified(LB);not specified(LB);not specified(LB);Hereditary cancer-predisposing syndrome(LB);not provided(B);Hereditary breast and ovarian cancer syndrome(B) 1/8/2018 -26.4 1 BLB 3 38004 Simple 80358820 A . CI 1 4 Hereditary breast and ovarian cancer syndrome(LB);Hereditary cancer-predisposing syndrome(LB);not specified(LB);not provided(US) 1/10/2018 -8.97 1 BLB 3 38005 Simple 80358822 T . CI 1 5 Hereditary cancer-predisposing syndrome(US);not specified(LB);Hereditary cancer-predisposing syndrome(LB);not provided(US);Hereditary breast and ovarian cancer syndrome(LB) 12/26/2017 -9.21 1.4 BLB 3 38006 Simple 80358823 G . CI 1 6 Hereditary cancer-predisposing syndrome(LB);not specified(LB);not specified(US);not specified(US);not provided(US);Hereditary breast and ovarian cancer syndrome(LB) 12/30/2017 -9.45 1.5 BLB 3 38020 Simple 56191579 C . CI 1 8 Hereditary cancer-predisposing syndrome(B);Hereditary breast and ovarian cancer syndrome(US);not specified(LB);not specified(US);not specified(US);Hereditary cancer-predisposing syndrome(LB);not provided(LB);Hereditary breast and ovarian cancer syndrome(LB) 8/17/2017 -18.15 1.375 BLB 3 38021 Simple 56191579 T . CI 1 6 "Hereditary breast and ovarian cancer syndrome(LB);Hereditary cancer-predisposing syndrome(B);Breast-ovarian cancer, familial 2(LB);not specified(LB);not specified(LB);Hereditary cancer-predisposing syndrome(LB)" 1/5/2018 -18.3 1.833333333 BLB 3 38032 Simple 80358866 T . CI 1 5 Hereditary cancer-predisposing syndrome(LB);not specified(LB);Hereditary cancer-predisposing syndrome(LB);not provided(US);Hereditary breast and ovarian cancer syndrome(LB) 12/6/2017 -11.7 1 BLB 3 38052 Simple 56019712 T . CI 1 6 Hereditary cancer-predisposing syndrome(LB);not specified(LB);not specified(US);Hereditary cancer-predisposing syndrome(LB);not provided(US);Hereditary breast and ovarian cancer syndrome(LB) 12/27/2017 -11.7 1 BLB 3 38063 Simple 80358896 G . CI 1 5 "not specified(LB);Hereditary cancer-predisposing syndrome(LB);Breast-ovarian cancer, familial 2(US);not provided(US);Hereditary breast and ovarian cancer syndrome(LB)" 10/10/2017 -9.27 1 BLB 3 38067 Simple 276174879 - . CI 1 4 not specified(US);Hereditary breast and ovarian cancer syndrome(B);not specified(LB);Hereditary cancer-predisposing syndrome(B) 1/2/2018 -15.21 1.25 BLB 3 38068 Simple 81002888 G . CI 1 2 Hereditary breast and ovarian cancer syndrome(B);not specified(LB) 11/1/2017 -9 0 BLB 3 38081 Simple 80358932 G . CI 1 10 "not specified(LB);Fanconi anemia(LB);Hereditary breast and ovarian cancer syndrome(LB);not specified(B);not specified(B);not provided(B);Breast-ovarian cancer, familial 2(LB);Breast-ovarian cancer, familial 2(LB);Hereditary breast and ovarian cancer syndrome(B);Hereditary cancer-predisposing syndrome(LB)" 12/27/2017 -37.8 1.7 B 3 38083 Simple 80358941 G . CI 1 5 "not specified(LB);Hereditary cancer-predisposing syndrome(LB);Breast-ovarian cancer, familial 2(US);Hereditary cancer-predisposing syndrome(LB);Hereditary breast and ovarian cancer syndrome(US)" 8/9/2017 -8.97 1.2 BLB 3 38084 Simple 397507382 G . CI 1 6 "Hereditary cancer-predisposing syndrome(B);Hereditary breast and ovarian cancer syndrome(B);Breast-ovarian cancer, familial 2(US);not specified(LB);not specified(LB);not provided(LB)" 2/26/2018 -19.77 1.333333333 BLB 3 38096 Simple 81002852 A . CI 1 9 "not specified(B);not specified(US);Breast-ovarian cancer, familial 2(LB);Hereditary cancer-predisposing syndrome(US);not specified(B);not specified(LB);not specified(B);Hereditary cancer-predisposing syndrome(B);Hereditary breast and ovarian cancer syndrome(B)" 12/28/2017 -32.34 1.888888889 B 3 38097 Simple 81002904 G . CI 1 7 not specified(US);Hereditary cancer-predisposing syndrome(B);not specified(US);not specified(US);not specified(US);not provided(US);Hereditary breast and ovarian cancer syndrome(LB) 7/28/2017 -9.18 1.428571429 BLB 3 38100 Simple 80358976 C . CI 1 4 Hereditary breast and ovarian cancer syndrome(LB);Hereditary cancer-predisposing syndrome(B);not specified(LB);not provided(US) 12/28/2017 -11.1 1.25 BLB 3 38109 Simple 74047012 T . CI 1 6 "not specified(LB);Breast-ovarian cancer, familial 2(LB);Hereditary cancer-predisposing syndrome(LB);not specified(LB);not provided(LB);Hereditary breast and ovarian cancer syndrome(LB)" 3/5/2018 -15.9 1.833333333 BLB 3 38131 Simple 80359027 A . CI 1 10 "Hereditary cancer-predisposing syndrome(P);not provided(P);Hereditary cancer-predisposing syndrome(P);not provided(P);Breast-ovarian cancer, familial 2(P);Breast-ovarian cancer, familial 2(P);Hereditary breast and ovarian cancer syndrome(P);Hereditary breast and ovarian cancer syndrome(P);Hereditary breast and ovarian cancer syndrome(P);Breast-ovarian cancer, familial 2(P)" 12/20/2017 55.8 1.5 P 3 38134 Simple 28897745 G . CI 1 9 "Hereditary cancer-predisposing syndrome(B);not specified(LB);Breast-ovarian cancer, familial 2(LB);Hereditary breast and ovarian cancer syndrome(LB);not specified(US);not specified(B);Hereditary cancer-predisposing syndrome(LB);not provided(B);Hereditary breast and ovarian cancer syndrome(B)" 1/9/2018 -31.8 1.888888889 B 3 38135 Simple 80359037 G . CI 1 5 Hereditary cancer-predisposing syndrome(LB);not specified(LB);Hereditary cancer-predisposing syndrome(LB);not provided(LB);Hereditary breast and ovarian cancer syndrome(US) 1/8/2018 -12 0.8 BLB 3 38136 Simple 80359038 C . CI 1 6 "Hereditary cancer-predisposing syndrome(LB);not specified(LB);Breast-ovarian cancer, familial 2(LB);not specified(US);not specified(LB);Hereditary breast and ovarian cancer syndrome(LB)" 12/21/2017 -14.01 2 BLB 3 38139 Simple 80359055 G . CI 1 7 "Hereditary cancer-predisposing syndrome(LB);not specified(US);not specified(LB);not specified(LB);not provided(US);Breast-ovarian cancer, familial 2(US);Hereditary breast and ovarian cancer syndrome(B)" 12/3/2017 -15.45 1.428571429 BLB 3 38152 Simple 28897705 G . CI 1 9 "Hereditary cancer-predisposing syndrome(LB);not specified(LB);Breast-ovarian cancer, familial 2(B);not specified(US);not specified(US);not provided(LB);Hereditary breast and ovarian cancer syndrome(LB);Breast-ovarian cancer, familial 2(LB);Breast-ovarian cancer, familial 2(LB)" 12/5/2017 -22.77 1.111111111 BLB 3 38163 Simple 81002838 A . CI 1 7 "not specified(B);Breast-ovarian cancer, familial 2(LB);not specified(US);not specified(LB);Hereditary cancer-predisposing syndrome(LB);not provided(US);Hereditary breast and ovarian cancer syndrome(LB)" 12/5/2017 -16.74 1.571428571 BLB 3 38168 Simple 11571747 C . CI 1 19 "Hereditary breast and ovarian cancer syndrome(B);Breast-ovarian cancer, familial 2(LB);not specified(B);Hereditary cancer-predisposing syndrome(B);not specified(LB);not specified(LB);Breast-ovarian cancer, familial 2(B);Hereditary breast and ovarian cancer syndrome(LB);Fanconi anemia(LB);Hereditary breast and ovarian cancer syndrome(LB);Hereditary breast and ovarian cancer syndrome(B);not specified(US);not specified(B);not specified(B);not specified(B);Hereditary cancer-predisposing syndrome(LB);Breast-ovarian cancer, familial 2(B);Breast-ovarian cancer, familial 2(B);Hereditary cancer-predisposing syndrome(LB)" 1/16/2018 -70.47 2.421052632 B 3 38175 Simple 80359122 T . CI 1 5 not specified(LB);Hereditary cancer-predisposing syndrome(US);Hereditary cancer-predisposing syndrome(LB);not provided(US);Hereditary breast and ovarian cancer syndrome(LB) 9/11/2017 -9.6 0.6 BLB 3 38176 Simple 766173 G . CI 1 6 "Hereditary cancer-predisposing syndrome(LB);Breast-ovarian cancer, familial 2(US);not specified(LB);Hereditary cancer-predisposing syndrome(US);not provided(LB);Hereditary breast and ovarian cancer syndrome(US)" 12/21/2017 -9.57 1 BLB 3 38180 Simple 80359129 A . CI 1 6 "Hereditary cancer-predisposing syndrome(LB);not specified(LB);Breast-ovarian cancer, familial 2(US);Hereditary cancer-predisposing syndrome(B);not provided(LB);Hereditary breast and ovarian cancer syndrome(B)" 12/6/2017 -20.07 1.333333333 BLB 3 38182 Simple 81002813 A . CI 1 3 "Breast-ovarian cancer, familial 2(P);Hereditary cancer-predisposing syndrome(LP);Breast-ovarian cancer, familial 2(P)" 7/28/2017 14.1 1.333333333 PLP 3 38191 Simple 45457795 G . CI 1 7 "Hereditary cancer-predisposing syndrome(LB);not specified(LB);not specified(US);Breast-ovarian cancer, familial 2(US);Hereditary cancer-predisposing syndrome(LB);not provided(LB);Hereditary breast and ovarian cancer syndrome(LB)" 1/12/2018 -14.22 2.142857143 BLB 3 38194 Simple 80359143 A . CI 1 6 Hereditary cancer-predisposing syndrome(LB);not specified(US);Hereditary cancer-predisposing syndrome(LB);not specified(LB);not provided(LB);Hereditary breast and ovarian cancer syndrome(LB) 12/28/2017 -14.1 1.333333333 BLB 3 38199 Simple 587782878 - . CI 1 5 "Hereditary cancer-predisposing syndrome(B);Hereditary breast and ovarian cancer syndrome(B);Breast-ovarian cancer, familial 2(US);not specified(US);Hereditary cancer-predisposing syndrome(B)" 1/5/2018 -17.37 1.4 BLB 3 38200 Simple 80359150 A . CI 1 5 Hereditary cancer-predisposing syndrome(LB);not specified(US);not specified(LB);not provided(LB);Hereditary breast and ovarian cancer syndrome(B) 12/9/2017 -14.91 1.4 BLB 3 38201 Simple 80359152 A . CI 1 10 "Hereditary cancer-predisposing syndrome(LP);not provided(P);Breast-ovarian cancer, familial 2(P);Breast-ovarian cancer, familial 2(LP);Hereditary breast and ovarian cancer syndrome(LP);not provided(P);Hereditary breast and ovarian cancer syndrome(P);Hereditary cancer-predisposing syndrome(P);Hereditary breast and ovarian cancer syndrome(P);Hereditary breast and ovarian cancer syndrome(P)" 10/25/2017 47.7 1.5 P 3 38205 Simple 28897755 T . CI 1 12 "not specified(US);Breast-ovarian cancer, familial 2(LB);Fanconi anemia(LB);Hereditary breast and ovarian cancer syndrome(LB);not specified(US);not specified(B);not provided(LB);Hereditary cancer-predisposing syndrome(LB);Breast-ovarian cancer, familial 2(B);Breast-ovarian cancer, familial 2(B);Hereditary breast and ovarian cancer syndrome(B);Hereditary cancer-predisposing syndrome(B)" 12/27/2017 -40.2 1.75 B 3 38211 Simple 80359165 C . CI 1 7 "Hereditary breast and ovarian cancer syndrome(LB);Hereditary cancer-predisposing syndrome(LB);not specified(US);not specified(US);Hereditary cancer-predisposing syndrome(LB);not provided(LB);Breast-ovarian cancer, familial 2(US)" 12/17/2017 -12.18 1.714285714 BLB 3 38217 Simple 80359171 A . CI 1 6 Hereditary cancer-predisposing syndrome(LB);not specified(US);not specified(LB);not specified(US);Hereditary cancer-predisposing syndrome(LB);Hereditary breast and ovarian cancer syndrome(LB) 12/3/2017 -12.27 1 BLB 3 38222 Simple 80359189 C . CI 1 5 Hereditary cancer-predisposing syndrome(LB);not specified(LB);Hereditary cancer-predisposing syndrome(LB);not provided(US);Hereditary breast and ovarian cancer syndrome(LB) 12/5/2017 -11.67 1.2 BLB 3 38224 Simple 397507423 C . CI 1 6 not specified(LB);not specified(LB);not specified(LB);Hereditary cancer-predisposing syndrome(US);Hereditary breast and ovarian cancer syndrome(US);not provided(LB) 1/9/2018 -11.7 1.166666667 BLB 3 38233 Simple 28897759 T . CI 1 12 "Hereditary cancer-predisposing syndrome(P);not specified(US);not provided(P);Breast-ovarian cancer, familial 2(P);Hereditary breast and ovarian cancer syndrome(P);Breast-ovarian cancer, familial 2(P);not provided(P);Breast-ovarian cancer, familial 2(LP);Hereditary cancer-predisposing syndrome(P);Hereditary breast and ovarian cancer syndrome(P);Hereditary breast and ovarian cancer syndrome(P);Breast-ovarian cancer, familial 2(LP)" 12/19/2017 57.96 1 P 3 38241 Simple 79483201 A . CI 1 9 "Hereditary cancer-predisposing syndrome(B);not specified(B);Breast-ovarian cancer, familial 2(LB);Breast-ovarian cancer, familial 2(LB);Fanconi anemia(LB);Hereditary breast and ovarian cancer syndrome(LB);not specified(LB);Hereditary cancer-predisposing syndrome(LB);Hereditary breast and ovarian cancer syndrome(B)" 1/12/2018 -33.3 1.666666667 B 3 38242 Simple 61757642 T . CI 1 9 "Hereditary cancer-predisposing syndrome(US);not specified(US);not specified(US);Breast-ovarian cancer, familial 2(US);not specified(US);Hereditary breast and ovarian cancer syndrome(B);not specified(US);Breast-ovarian cancer, familial 2(LB);Breast-ovarian cancer, familial 2(LB)" 12/30/2017 -13.02 1.555555556 BLB 3 38243 Simple 81002867 C . CI 1 6 "not specified(B);Breast-ovarian cancer, familial 2(LB);not specified(B);Hereditary cancer-predisposing syndrome(B);not provided(B);Hereditary breast and ovarian cancer syndrome(B)" 12/5/2017 -30 1.833333333 B 3 38248 Simple 55939572 C . CI 1 6 "not specified(B);Hereditary cancer-predisposing syndrome(B);Breast-ovarian cancer, familial 2(LB);not specified(LB);Hereditary cancer-predisposing syndrome(LB);Hereditary breast and ovarian cancer syndrome(B)" 12/27/2017 -23.4 2.166666667 BLB 3 38250 Simple 28897760 A . CI 1 6 "Hereditary cancer-predisposing syndrome(LB);not specified(LB);Breast-ovarian cancer, familial 2(US);not specified(US);Hereditary cancer-predisposing syndrome(LB);Hereditary breast and ovarian cancer syndrome(LB)" 1/13/2018 -12.27 1 BLB 3 38251 Simple 80359228 G . CI 1 7 Hereditary breast and ovarian cancer syndrome(B);Hereditary cancer-predisposing syndrome(B);not specified(LB);not specified(US);not specified(B);not specified(LB);not provided(LB) 12/7/2017 -24.9 1.142857143 BLB 3 38257 Simple 55775473 C . CI 1 6 "Hereditary breast and ovarian cancer syndrome(B);not specified(LB);Hereditary cancer-predisposing syndrome(LB);Breast-ovarian cancer, familial 2(LB);Breast-ovarian cancer, familial 2(LB);not specified(LB)" 1/16/2018 -19.5 1.5 BLB 3 38258 Simple 11571640 C . CI 1 9 "Hereditary breast and ovarian cancer syndrome(B);not specified(LB);Hereditary cancer-predisposing syndrome(B);Breast-ovarian cancer, familial 2(LB);Breast-ovarian cancer, familial 2(US);not specified(LB);not specified(US);Hereditary cancer-predisposing syndrome(LB);not provided(LB)" 11/7/2017 -25.68 1.666666667 BLB 3 38298 Simple 13073139 A . CI 1 5 Biotinidase deficiency(P);not provided(P);not provided(P);Biotinidase deficiency(P);Biotinidase deficiency(US) 5/18/2017 21.3 1.8 P 3 38327 Simple 116474260 T . CI 1 4 Hyperekplexia(LB);not specified(LB);Hyperekplexia hereditary(B);Hyperekplexia hereditary(B) 12/28/2017 -16.5 1.5 BLB 3 38340 Simple 202247790 - . CI 1 4 Merosin deficient congenital muscular dystrophy(P);not specified(US);not provided(P);Laminin alpha 2-related dystrophy(P) 1/3/2018 15.93 1.75 P 3 38482 Simple 397514333 C . CI 1 3 not specified(LB);not specified(US);Biotinidase deficiency(B) 9/22/2017 -9.27 1 BLB 3 38794 Simple 28383481 A . CI 1 4 Renal carnitine transport defect(P);not provided(P);Renal carnitine transport defect(P);Renal carnitine transport defect(LB) 1/3/2018 12.6 1.75 PLP 3 38863 Simple 61735045 A . CI 1 8 "Ehlers-Danlos syndrome, type 7A(LB);not specified(B);Ehlers-Danlos syndrome, classic type(B);not specified(B);not provided(B);Cardiovascular phenotype(B);not specified(B);not specified(B)" 8/2/2017 -39.6 2 B 3 38888 Simple 3087425 T . CI 1 2 not specified(B);Werner syndrome(B) 1/4/2018 -10.8 1.5 BLB 3 38915 Simple 199422321 A . CI 1 3 "not specified(LB);Revesz syndrome(LB);Dyskeratosis Congenita, Dominant(LB)" 6/14/2016 -8.7 1.333333333 BLB 3 38916 Simple 142777869 T . CI 1 3 "Revesz syndrome(LB);Dyskeratosis Congenita, Dominant(LB);Dyskeratosis congenita(B)" 10/20/2017 -12 0.666666667 BLB 3 39020 Simple 7958709 G . CI 1 3 "Mucolipidosis, Type III Alpha/Beta(LB);Mucolipidosis, Type II(LB);not provided(LB)" 1/24/2017 -9 1 BLB 3 39121 Simple 35719940 T . CI 1 6 "Idiopathic fibrosing alveolitis, chronic form(B);Dyskeratosis congenita, autosomal dominant, 2(B);Aplastic anemia(LB);Idiopathic fibrosing alveolitis, chronic form(LB);Dyskeratosis Congenita, Recessive(LB);not specified(US);not specified(B)" 8/21/2017 -21.3 0.833333333 BLB 3 39125 Simple 61748181 T . CI 1 6 "Dyskeratosis Congenita, Recessive(B);Idiopathic fibrosing alveolitis, chronic form(B);Aplastic anemia(B);Idiopathic fibrosing alveolitis, chronic form(B);Dyskeratosis congenita, autosomal dominant, 2(B);not specified(B);not specified(B)" 8/11/2017 -33.6 1.5 B 3 39134 Simple 2256408 G . CI 1 2 "not specified(B);Parkinson disease 8, autosomal dominant(B)" 1/30/2017 -12 1 BLB 3 39163 Simple 78365431 T . CI 1 2 "Parkinson disease 8, autosomal dominant(LB);Parkinson disease 8, autosomal dominant(B)" 11/17/2017 -9 0.5 BLB 3 39193 Simple 33958906 T . CI 1 2 "Parkinson disease 8, autosomal dominant(LB);Parkinson disease 8, autosomal dominant(B)" 3/10/2017 -9 1 BLB 3 39200 Simple 35303786 C . CI 1 2 "Parkinson disease 8, autosomal dominant(LB);Parkinson disease 8, autosomal dominant(B)" 9/25/2017 -9 0.5 BLB 3 39221 Simple 33995883 G . CI 1 2 "Parkinson disease 8, autosomal dominant(LB);Parkinson disease 8, autosomal dominant(B)" 7/27/2017 -9 0.5 BLB 3 39267 Simple 1055138 G . CI 1 3 "not specified(B);Bietti crystalline corneoretinal dystrophy(B);Corneal Dystrophy, Recessive(B)" 6/14/2016 -16.2 2 BLB 3 39271 Simple 207482233 GC . CI 1 4 "Bietti crystalline corneoretinal dystrophy(P);Corneal Dystrophy, Recessive(US);Bietti crystalline corneoretinal dystrophy(P);Bietti crystalline corneoretinal dystrophy(P)" 2/6/2017 17.7 1 P 3 39286 Simple 141686314 T . CI 1 4 not provided(LB);not specified(LB);Dyskeratosis congenita autosomal dominant(B);not specified(B) 1/13/2018 -17.7 1 BLB 3 39466 Simple 117671123 T . CI 1 8 "not specified(B);not specified(B);not specified(B);Myofibrillar myopathy, BAG3-related(B);Myofibrillar myopathy, BAG3-related(B);Dilated cardiomyopathy 1HH(B);Myofibrillar Myopathy, Dominant(LB);not provided(B);Cardiovascular phenotype(B)" 1/3/2018 -41.4 1.375 B 3 39486 Simple 4426527 G . CI 1 2 not specified(B);Primary hyperoxaluria(LB) 6/26/2016 -9 1 BLB 3 39585 Simple 151266052 T . CI 1 3 Mitochondrial complex II deficiency(LB);Paragangliomas 5(LB);Hereditary cancer-predisposing syndrome(LB);not specified(LB) 1/5/2018 -9 0 BLB 3 40223 Simple 144467873 A . CI 1 4 "Hypercholesterolemia, autosomal dominant, type B(P);Hypobetalipoproteinemia, familial, 1(P);not provided(P);Familial hypercholesterolemia(US);Familial hypercholesterolemia(P)" 11/15/2017 17.73 0.75 P 3 40421 Simple 2229073 T . CI 1 4 not specified(LB);not specified(US);Rasopathy(B);Noonan-Like Syndrome Disorder(LB) 2/15/2018 -12.21 1.25 BLB 3 41502 Simple 143638171 C . CI 1 11 Hereditary cancer-predisposing syndrome(B);Familial adenomatous polyposis 1(B);Familial multiple polyposis syndrome(US);APC-Associated Polyposis Disorders(LB);not specified(B);not specified(B);not provided(LB);Hereditary cancer-predisposing syndrome(B);not specified(B);not specified(LB);not provided(LB) 1/10/2018 -44.04 1.636363636 B 3 41505 Simple 150973053 G . CI 1 4 Familial adenomatous polyposis 1(B);Hereditary cancer-predisposing syndrome(LB);not specified(LB);not provided(LB) 1/4/2018 -15 0.25 BLB 3 41509 Simple 141576417 G . CI 1 6 Familial adenomatous polyposis 1(B);Hereditary cancer-predisposing syndrome(B);not specified(LB);Hereditary cancer-predisposing syndrome(LB);not specified(B);not provided(LB) 1/31/2018 -26.4 0.833333333 BLB 3 41511 Simple 34919187 T . CI 1 7 not specified(LB);Familial adenomatous polyposis 1(B);Hereditary cancer-predisposing syndrome(LB);Familial adenomatous polyposis(LB);APC-Associated Polyposis Disorders(LB);not specified(LB);not specified(LB) 1/9/2018 -22.8 1.142857143 BLB 3 41512 Simple 200756935 T . CI 1 6 "Hereditary cancer-predisposing syndrome(LB);Familial adenomatous polyposis 1(B);not specified(US);not specified(LB);Desmoid disease, hereditary(US);Carcinoma of colon(US);Familial adenomatous polyposis 1(US);Neoplasm of stomach(US);Hepatocellular carcinoma(US);Hereditary cancer-predisposing syndrome(US)" 1/12/2018 -12.9 0.666666667 BLB 3 41519 Simple 75870842 T . CI 1 6 not specified(LB);Hereditary cancer-predisposing syndrome(LB);Familial adenomatous polyposis 1(LB);not specified(US);not provided(LB);not specified(US) 12/5/2017 -12.45 1.833333333 BLB 3 41520 Simple 144056494 C . CI 1 8 Hereditary cancer-predisposing syndrome(B);not specified(US);Familial adenomatous polyposis 1(US);not specified(US);not specified(US);not specified(US);Hereditary cancer-predisposing syndrome(US);not provided(LB) 1/11/2018 -9.3 1.125 BLB 3 41521 Simple 147655929 T . CI 1 5 "Hereditary cancer-predisposing syndrome(B);not specified(LB);Familial adenomatous polyposis 1(B);Colorectal cancer, susceptibility to(US);Hereditary cancer-predisposing syndrome(LB)" 12/21/2017 -17.67 1 BLB 3 41523 Simple 148725540 G . CI 1 6 Hereditary cancer-predisposing syndrome(B);Familial adenomatous polyposis 1(B);APC-Associated Polyposis Disorders(LB);Familial adenomatous polyposis 1(US);Hereditary cancer-predisposing syndrome(LB);not specified(LB) 12/24/2017 -19.77 1.333333333 BLB 3 41525 Simple 201629780 G . CI 1 5 Hereditary cancer-predisposing syndrome(B);Familial adenomatous polyposis 1(B);not specified(LB);not specified(LB);not provided(B) 12/27/2017 -21.6 1.8 BLB 3 41526 Simple 140493115 G . CI 1 4 Familial adenomatous polyposis 1(B);Hereditary cancer-predisposing syndrome(B);not specified(LB);Hereditary cancer-predisposing syndrome(LB) 1/9/2018 -16.5 1.25 BLB 3 41527 Simple 386833391 - . CI 1 9 Familial adenomatous polyposis 1(B);Familial multiple polyposis syndrome(B);APC-Associated Polyposis Disorders(LB);not specified(LB);Hereditary cancer-predisposing syndrome(B);not specified(LB);Hereditary cancer-predisposing syndrome(B);not provided(B);not specified(B) 1/11/2018 -42.6 1.222222222 B 3 41534 Simple 148878262 T . CI 1 7 Hereditary cancer-predisposing syndrome(B);not specified(US);Familial adenomatous polyposis 1(US);Familial adenomatous polyposis 1(US);not specified(LB);not specified(US);not specified(US) 1/11/2018 -9.3 1.142857143 BLB 3 41539 Simple 80358403 T . CI 1 3 Hereditary breast and ovarian cancer syndrome(LB);Hereditary cancer-predisposing syndrome(LB);not specified(LB) 12/12/2017 -8.7 0.666666667 BLB 3 41542 Simple 28897708 C . CI 1 18 "Breast-ovarian cancer, familial 2(LB);Hereditary cancer-predisposing syndrome(B);Neoplasm of the breast(LB);not specified(LB);not specified(LB);Breast-ovarian cancer, familial 2(LB);Hereditary breast and ovarian cancer syndrome(LB);Hereditary breast and ovarian cancer syndrome(LB);Fanconi anemia(LB);Hereditary breast and ovarian cancer syndrome(B);not specified(US);not specified(B);not specified(LB);not specified(LB);Hereditary cancer-predisposing syndrome(LB);Hereditary breast and ovarian cancer syndrome(B);Breast-ovarian cancer, familial 2(B);Breast-ovarian cancer, familial 2(B)" 1/5/2018 -59.7 2.055555556 B 3 41543 Simple 28897710 G . CI 1 14 "not specified(B);not specified(B);Breast-ovarian cancer, familial 2(B);Hereditary breast and ovarian cancer syndrome(LB);not specified(LB);not specified(B);not specified(B);Hereditary cancer-predisposing syndrome(LB);Hereditary breast and ovarian cancer syndrome(B);Familial cancer of breast(B);Breast-ovarian cancer, familial 2(LB);Hereditary cancer-predisposing syndrome(B);Breast-ovarian cancer, familial 2(B);Breast-ovarian cancer, familial 2(B)" 1/9/2018 -60 2.571428571 B 3 41551 Simple 80358703 C . CI 1 4 Hereditary breast and ovarian cancer syndrome(B);Hereditary cancer-predisposing syndrome(B);not specified(LB);not specified(B) 1/5/2018 -18 1.75 BLB 3 41559 Simple 55794205 T . CI 1 13 "Hereditary cancer-predisposing syndrome(B);not specified(LB);not specified(B);Breast-ovarian cancer, familial 2(LB);Breast-ovarian cancer, familial 2(B);Hereditary breast and ovarian cancer syndrome(LB);Fanconi anemia(LB);Hereditary breast and ovarian cancer syndrome(B);not specified(B);Hereditary cancer-predisposing syndrome(LB);Breast-ovarian cancer, familial 2(LB);Breast-ovarian cancer, familial 2(LB);Hereditary breast and ovarian cancer syndrome(B)" 12/25/2017 -49.5 1.923076923 B 3 41560 Simple 79456940 A . CI 1 9 Hereditary cancer-predisposing syndrome(LB);not specified(LB);Neoplasm of the breast(US);Fanconi anemia(LB);Hereditary breast and ovarian cancer syndrome(LB);not specified(B);not provided(LB);not provided(LB);Hereditary breast and ovarian cancer syndrome(B) 12/29/2017 -28.17 1.444444444 B 3 41563 Simple 55716624 T . CI 1 12 "Hereditary cancer-predisposing syndrome(LB);Breast and/or ovarian cancer(US);not specified(US);not specified(US);not specified(US);Breast-ovarian cancer, familial 2(US);not specified(US);not specified(US);not specified(US);not provided(B);Hereditary breast and ovarian cancer syndrome(B);not specified(LB)" 1/30/2018 -19.23 1.75 BLB 3 41568 Simple 80359128 A . CI 1 6 "Hereditary cancer-predisposing syndrome(LB);Breast-ovarian cancer, familial 2(US);not specified(LB);not specified(LB);not provided(US);Hereditary breast and ovarian cancer syndrome(LB)" 12/22/2017 -10.74 2 BLB 3 41579 Simple 116150891 A . CI 1 5 not specified(B);Hereditary cutaneous melanoma(B);Hereditary cancer-predisposing syndrome(LB);Melanoma-pancreatic cancer syndrome(LB);not specified(LB) 1/13/2018 -21 0.6 BLB 3 41585 Simple 369802820 C . CI 1 4 Multiple cutaneous leiomyomas(LB);Multiple Cutaneous and Uterine Leiomyomas(LB);Fumarase deficiency(LB);Fumarase deficiency(US) 1/2/2018 -9.3 0.75 BLB 3 41610 Simple 201315884 C . CI 1 3 "Renal cell carcinoma, papillary, 1(B);not specified(LB);Hereditary cancer-predisposing syndrome(LB)" 1/5/2018 -12 0.333333333 BLB 3 41623 Simple 34589476 T . CI 1 7 "Renal cell carcinoma, papillary, 1(B);Hereditary cancer-predisposing syndrome(LB);Renal cell carcinoma, papillary, 1(LB);not provided(LB);not specified(US);not specified(LB);not specified(US)" 1/9/2018 -18.51 1 BLB 3 41624 Simple 56391007 T . CI 1 8 "Renal cell carcinoma, papillary, 1(B);Hereditary cancer-predisposing syndrome(B);Congenital diaphragmatic hernia(US);Hereditary cancer-predisposing syndrome(US);not specified(US);Renal cell carcinoma, papillary, 1(LB);not specified(B);not provided(B)" 1/10/2018 -26.49 2 BLB 3 41628 Simple 200861145 A . CI 1 3 "Renal cell carcinoma, papillary, 1(LB);Hereditary cancer-predisposing syndrome(LB);not specified(LB)" 1/5/2018 -9 0 BLB 3 41629 Simple 35225896 G . CI 1 6 "not specified(B);Renal cell carcinoma, papillary, 1(B);Hereditary cancer-predisposing syndrome(B);Renal cell carcinoma, papillary, 1(LB);not specified(LB);not specified(LB)" 1/4/2018 -23.4 1.666666667 BLB 3 41630 Simple 201467281 G . CI 1 3 "Renal cell carcinoma, papillary, 1(B);Hereditary cancer-predisposing syndrome(US);not specified(LB)" 1/10/2018 -9.3 0.333333333 BLB 3 41648 Simple 202145681 A . CI 1 4 Hereditary cancer-predisposing syndrome(LB);Hereditary nonpolyposis colon cancer(B);not specified(LB);Hereditary cancer-predisposing syndrome(LB) 1/8/2018 -14.7 0.75 BLB 3 41652 Simple 202026056 T . CI 1 5 not specified(LB);Hereditary nonpolyposis colon cancer(B);Hereditary cancer-predisposing syndrome(B);not specified(LB);Hereditary cancer-predisposing syndrome(US) 12/6/2017 -17.7 0.6 BLB 3 41654 Simple 149258400 A . CI 1 3 Gorlin syndrome(B);not specified(B);Hereditary cancer-predisposing syndrome(LB) 1/18/2018 -14.4 1 BLB 3 41656 Simple 138154222 T . CI 1 5 Gorlin syndrome(LB);Holoprosencephaly sequence(LB);Gorlin syndrome(B);Hereditary cancer-predisposing syndrome(LB);not provided(LB) 1/2/2018 -18 0.6 BLB 3 41660 Simple 113663584 T . CI 1 4 Gorlin syndrome(LB);not specified(LB);not provided(LB);Hereditary cancer-predisposing syndrome(LB) 3/8/2018 -12 0.25 BLB 3 41666 Simple 143464326 A . CI 1 5 Gorlin syndrome(B);Holoprosencephaly sequence(LB);Gorlin syndrome(LB);Hereditary cancer-predisposing syndrome(LB);not specified(LB) 12/29/2017 -18 0.6 BLB 3 41667 Simple 56023271 T . CI 1 5 Gorlin syndrome(B);Gorlin syndrome(LB);Holoprosencephaly sequence(LB);not specified(B);Hereditary cancer-predisposing syndrome(LB) 12/29/2017 -20.4 1 BLB 3 41669 Simple 17881753 T . CI 1 3 "Hereditary cancer-predisposing syndrome(LB);Neurofibromatosis, type 1(B);not specified(LB)" 1/4/2018 -11.7 0.666666667 BLB 3 41672 Simple 147327414 G . CI 1 9 "Hereditary cancer-predisposing syndrome(B);Neurofibromatosis, type 1(B);Neurofibromatosis-Noonan syndrome(LB);Neurofibromatosis, type 1(LB);Neurofibromatosis, familial spinal(LB);Caf??-au-lait macules with pulmonary stenosis(LB);not specified(B);not specified(B);not specified(B)" 1/12/2018 -40.8 1.111111111 B 3 41675 Simple 148736217 T . CI 1 4 "Hereditary cancer-predisposing syndrome(LB);Neurofibromatosis, type 1(B);not specified(B);not specified(LB)" 1/2/2018 -17.7 0.5 BLB 3 41678 Simple 148154172 T . CI 1 3 "Hereditary cancer-predisposing syndrome(LB);Neurofibromatosis, type 1(B);not specified(B)" 2/5/2018 -14.7 0.666666667 BLB 3 41686 Simple 118203481 A . CI 1 6 not specified(LB);Tuberous sclerosis 1(B);Focal cortical dysplasia type II(LB);Tuberous sclerosis syndrome(LB);not specified(B);Hereditary cancer-predisposing syndrome(LB) 1/31/2018 -23.4 1 BLB 3 41687 Simple 118203493 T . CI 1 5 Hereditary cancer-predisposing syndrome(LB);Tuberous sclerosis syndrome(LB);Focal cortical dysplasia type II(LB);not specified(B);Tuberous sclerosis 1(B) 1/12/2018 -21 0.4 BLB 3 41690 Simple 118203532 C . CI 1 6 not specified(LB);Tuberous sclerosis 1(B);not specified(LB);Tuberous sclerosis syndrome(LB);Focal cortical dysplasia type II(LB);Hereditary cancer-predisposing syndrome(LB) 1/24/2018 -21 0.5 BLB 3 41691 Simple 118203553 C . CI 1 3 not specified(LB);Hereditary cancer-predisposing syndrome(LB);Tuberous sclerosis 1(B) 12/24/2017 -11.7 1 BLB 3 41692 Simple 75820036 C . CI 1 6 not specified(B);Tuberous sclerosis 1(US);Tuberous sclerosis 1(B);not specified(LB);not specified(B);Hereditary cancer-predisposing syndrome(B) 1/15/2018 -23.97 2 BLB 3 41694 Simple 199755731 T . CI 1 6 Hereditary cancer-predisposing syndrome(LB);not specified(LB);Tuberous sclerosis 1(B);Focal cortical dysplasia type II(LB);Tuberous sclerosis syndrome(LB);Lymphangiomyomatosis(US);Tuberous sclerosis 1(US);Focal cortical dysplasia type II(US) 12/22/2017 -18.3 0.5 BLB 3 41695 Simple 76801599 C . CI 1 5 Tuberous sclerosis 1(B);Tuberous sclerosis syndrome(LB);Focal cortical dysplasia type II(LB);Hereditary cancer-predisposing syndrome(US);not specified(LB) 12/8/2017 -15.3 0.6 BLB 3 41696 Simple 118203742 T . CI 1 8 not specified(B);Hereditary cancer-predisposing syndrome(B);not specified(US);Tuberous sclerosis 1(B);not specified(LB);Focal cortical dysplasia type II(LB);Tuberous sclerosis syndrome(LB);not provided(B) 1/12/2018 -29.94 1.875 B 3 41709 Simple 201671325 T . CI 1 9 not specified(LB);Hereditary cancer-predisposing syndrome(LB);Hereditary nonpolyposis colon cancer(LB);Lynch syndrome(US);Lynch syndrome(US);Hereditary nonpolyposis colorectal cancer type 4(US);not specified(B);Turcot syndrome(US);Hereditary nonpolyposis colorectal cancer type 4(US);not provided(US) 1/15/2018 -16.41 1.111111111 BLB 3 41714 Simple 201343342 G . CI 1 8 not specified(US);Hereditary nonpolyposis colon cancer(B);Hereditary cancer-predisposing syndrome(LB);Lynch syndrome(US);Hereditary cancer-predisposing syndrome(US);not specified(US);Turcot syndrome(US);Hereditary nonpolyposis colorectal cancer type 4(US);not provided(US) 1/9/2018 -10.77 0.875 BLB 3 41721 Simple 146176004 G . CI 1 6 Hereditary nonpolyposis colon cancer(B);Hereditary cancer-predisposing syndrome(LB);Lynch syndrome(US);Hereditary cancer-predisposing syndrome(LB);not provided(US);not specified(LB) 1/13/2018 -15.3 0.666666667 BLB 3 41722 Simple 139438201 C . CI 1 7 not specified(LB);Hereditary cancer-predisposing syndrome(LB);Hereditary nonpolyposis colon cancer(B);not specified(US);not specified(LB);Hereditary cancer-predisposing syndrome(LB);not provided(LB) 1/20/2018 -21 0.857142857 BLB 3 41724 Simple 150195368 T . CI 1 5 not specified(US);Hereditary cancer-predisposing syndrome(B);Tuberous sclerosis 2(B);not specified(LB);not specified(LB) 3/7/2018 -17.61 1.4 BLB 3 41726 Simple 45484298 A . CI 1 10 not specified(LB);Tuberous sclerosis 2(B);Tuberous sclerosis 2(US);not specified(LB);Tuberous sclerosis syndrome(LB);Tuberous sclerosis 2(US);not specified(LB);not provided(LB);not specified(LB);Hereditary cancer-predisposing syndrome(LB) 1/10/2018 -26.64 1 BLB 3 41727 Simple 45486591 T . CI 1 4 not specified(US);Tuberous sclerosis 2(B);not specified(LB);Hereditary cancer-predisposing syndrome(LB) 11/30/2017 -11.94 1.5 BLB 3 41731 Simple 45509392 A . CI 1 3 not specified(LB);Tuberous sclerosis 2(B);Hereditary cancer-predisposing syndrome(LB) 1/7/2018 -12 0.333333333 BLB 3 41732 Simple 45517238 A . CI 1 7 Hereditary cancer-predisposing syndrome(LB);not specified(LB);not specified(B);Tuberous sclerosis 2(B);not provided(LB);not specified(US);not specified(LB) 1/9/2018 -23.37 1.285714286 BLB 3 41733 Simple 45517294 A . CI 1 4 Tuberous sclerosis syndrome(US);Hereditary cancer-predisposing syndrome(LB);not specified(LB);Tuberous sclerosis 2(B) 1/23/2018 -12.21 1.25 BLB 3 41735 Simple 45478595 T . CI 1 3 not specified(B);Tuberous sclerosis 2(B);Hereditary cancer-predisposing syndrome(B) 12/26/2017 -17.4 1 BLB 3 41747 Simple 200140994 A . CI 1 3 Tuberous sclerosis 2(B);not specified(LB);Hereditary cancer-predisposing syndrome(LB) 12/27/2017 -11.7 0.666666667 BLB 3 41748 Simple 45517423 T . CI 1 8 Hereditary cancer-predisposing syndrome(LB);not specified(LB);not specified(B);not specified(US);Tuberous sclerosis 2(B);Tuberous sclerosis syndrome(LB);not provided(LB);not specified(LB) 1/12/2018 -25.47 1.5 BLB 3 41751 Simple 35352891 A . CI 1 7 MYH-associated polyposis(LB);not specified(LB);Hereditary cancer-predisposing syndrome(LB);MYH-associated polyposis(LB);Hereditary cancer-predisposing syndrome(US);not specified(LB);Hereditary cancer-predisposing syndrome(B) 1/20/2018 -19.8 1.285714286 BLB 3 41752 Simple 144079536 T . CI 1 7 not specified(US);MYH-associated polyposis(LB);Hereditary cancer-predisposing syndrome(B);Hereditary cancer-predisposing syndrome(US);not specified(LB);Hereditary cancer-predisposing syndrome(US);not provided(US) 1/9/2018 -11.37 1.428571429 BLB 3 41759 Simple 79777494 A . CI 1 7 MYH-associated polyposis(B);Hereditary cancer-predisposing syndrome(B);not specified(US);MYH-associated polyposis(US);not specified(B);not specified(US);not provided(B) 1/9/2018 -24.18 1.285714286 BLB 3 41763 Simple 75321043 T . CI 1 8 MYH-associated polyposis(B);Hereditary cancer-predisposing syndrome(B);not specified(US);MYH-associated polyposis(US);not specified(B);not specified(US);Hereditary cancer-predisposing syndrome(B);not provided(B) 1/9/2018 -30.18 1.25 B 3 41766 Simple 77542170 C . CI 1 7 MYH-associated polyposis(LP);Hereditary cancer-predisposing syndrome(US);not provided(LP);not specified(US);MYH-associated polyposis(P);not provided(LP);not provided(US) 1/9/2018 13.5 0.857142857 PLP 3 41779 Simple 140592056 A . CI 1 7 not specified(LB);Juvenile polyposis syndrome(B);Hereditary cancer-predisposing syndrome(LB);Juvenile Polyposis(LB);Hereditary cancer-predisposing syndrome(LB);not specified(US);not provided(B) 1/9/2018 -24 0.857142857 BLB 3 41783 Simple 35187787 A . CI 1 7 not specified(B);Hereditary diffuse gastric cancer(B);Hereditary cancer-predisposing syndrome(B);Hereditary cancer-predisposing syndrome(B);Hereditary diffuse gastric cancer(LB);not provided(LB);Hereditary cancer-predisposing syndrome(LB) 1/13/2018 -30.6 1.428571429 B 3 41787 Simple 142822590 A . CI 1 7 not specified(LB);Hereditary diffuse gastric cancer(B);Hereditary cancer-predisposing syndrome(LB);Hereditary diffuse gastric cancer(LB);Colon cancer(US);Hereditary cancer-predisposing syndrome(LB);not provided(US) 2/28/2018 -18.24 1.142857143 BLB 3 41788 Simple 149755320 G . CI 1 8 not specified(LB);Juvenile polyposis syndrome(LB);Cardiovascular phenotype(LB);Osler hemorrhagic telangiectasia syndrome(LB);Juvenile Polyposis(LB);Myhre syndrome(LB);not specified(LB);not specified(LB) 12/27/2017 -24 0.625 BLB 3 41789 Simple 140743238 T . CI 1 7 Hereditary cancer-predisposing syndrome(LB);Juvenile polyposis syndrome(LB);not specified(US);Juvenile polyposis syndrome(US);not specified(LB);not specified(LB);not provided(LB) 12/24/2017 -15.54 0.857142857 BLB 3 41790 Simple 77524207 A . CI 1 3 Gastrointestinal stroma tumor(LB);Idiopathic hypereosinophilic syndrome(LB);Gastrointestinal stroma tumor(B) 1/13/2018 -12 0.666666667 BLB 3 41800 Simple 149951350 G . CI 1 3 Gastrointestinal stroma tumor(LB);Gastrointestinal stroma tumor(LB);Idiopathic hypereosinophilic syndrome(LB) 12/30/2017 -9 0.666666667 BLB 3 41801 Simple 139913632 T . CI 1 3 Gastrointestinal stroma tumor(B);Idiopathic hypereosinophilic syndrome(LB);Gastrointestinal stroma tumor(LB) 1/12/2018 -12 0.666666667 BLB 3 41804 Simple 80357024 C . CI 1 5 Hereditary cancer-predisposing syndrome(LB);not specified(LB);not specified(US);not provided(US);Hereditary breast and ovarian cancer syndrome(LB) 1/9/2018 -9.3 0.6 BLB 3 41831 Simple 80357087 A . CI 1 10 "not specified(LB);Breast-ovarian cancer, familial 1(LB);Breast carcinoma(US);not specified(US);not specified(LB);not specified(LB);Hereditary cancer-predisposing syndrome(LB);not provided(B);Hereditary breast and ovarian cancer syndrome(B);Hereditary cancer-predisposing syndrome(LB)" 12/27/2017 -28.77 1.4 B 3 41837 Simple 144867876 T . CI 1 5 Hereditary Paraganglioma-Pheochromocytoma Syndromes(LB);Pheochromocytoma(LB);not specified(LB);not specified(LB);Hereditary cancer-predisposing syndrome(LB) 1/3/2018 -15 0.6 BLB 3 41839 Simple 192489011 A . CI 1 7 "Multiple endocrine neoplasia, type 2(B);Pheochromocytoma(LB);Multiple endocrine neoplasia(LB);Renal adysplasia(LB);Hirschsprung Disease, Dominant(LB);not provided(LB);Hereditary cancer-predisposing syndrome(B)" 1/8/2018 -25.8 1.142857143 BLB 3 41846 Simple 35118262 A . CI 1 6 "Hereditary cancer-predisposing syndrome(B);Multiple endocrine neoplasia, type 2(B);Hirschsprung disease 1(LB);Hirschsprung Disease, Dominant(LB);not specified(LB);not specified(LB)" 1/10/2018 -23.4 0.833333333 BLB 3 41852 Simple 2959656 T . CI 1 4 "not specified(B);Primary hyperparathyroidism(US);Multiple endocrine neoplasia, type 1(B);not specified(B)" 1/16/2018 -16.44 2 BLB 3 41856 Simple 199643834 C . CI 1 3 not specified(LB);Multiple fibrofolliculomas(LB);Hereditary cancer-predisposing syndrome(LB) 1/17/2018 -9 0 BLB 3 41863 Simple 143483053 T . CI 1 5 Hereditary cancer-predisposing syndrome(LB);Multiple fibrofolliculomas(B);Spontaneous pneumothorax(LB);Multiple fibrofolliculomas(LB);not specified(LB) 12/15/2017 -18 0.6 BLB 3 41890 Simple 200533370 C . CI 1 5 "not specified(B);not specified(US);not specified(B);not provided(B);Epilepsy, X-linked, with variable learning disabilities and behavior disorders(B)" 12/18/2017 -23.07 1.2 BLB 3 41910 Simple 147012990 C . CI 1 8 "not specified(US);Malignant hyperthermia susceptibility(LB);Central core disease(LB);Multiminicore Disease(LB);Neuromuscular disease, congenital, with uniform type 1 fiber(LB);not specified(LB);RYR1-Related Disorders(LB);Malignant hyperthermia, susceptibility to, 1(US)" 12/27/2017 -18.18 1.5 BLB 3 41926 Simple 150516929 T . CI 1 8 "not specified(US);not specified(US);not specified(US);Posterior polar cataract(LB);Myofibrillar Myopathy, Dominant(LB);Alpha-B crystallinopathy(LB);Dilated cardiomyopathy 1II(LB);Cardiovascular phenotype(LB)" 12/4/2017 -15.78 1.25 BLB 3 42094 Simple 200796606 G . CI 1 3 Hereditary cancer-predisposing syndrome(P);not provided(LP);Fumarase deficiency(P) 4/5/2018 15 0.333333333 P 3 42095 Simple 367543046 TTTTTT . CI 1 4 Hereditary cancer-predisposing syndrome(LP);Fumarase deficiency(P);not provided(P);Fumarase deficiency(LP) 1/12/2018 16.8 0.75 P 3 42098 Simple 367543058 G . CI 1 6 not provided(P);Central core disease(LP);not specified(US);not provided(LP);not specified(US);RYR1-Related Disorders(LP) 11/28/2017 12.33 1.666666667 PLP 3 42125 Simple 61733458 A . CI 1 5 not specified(B);not specified(B);Deficiency of ferroxidase(LB);Deficiency of ferroxidase(LB);Deficiency of ferroxidase(B) 7/27/2017 -21.6 1.6 BLB 3 42272 Simple 137977232 G . CI 1 4 "not specified(US);not specified(LB);Emery-Dreifuss muscular dystrophy 1, X-linked(B);not specified(LB)" 12/6/2017 -12.18 1.75 BLB 3 42276 Simple 151074632 A . CI 1 5 "not specified(LB);Emery-Dreifuss muscular dystrophy 1, X-linked(LB);Cardiovascular phenotype(LB);not specified(US);not specified(LB)" 2/23/2018 -11.1 1.2 BLB 3 42334 Simple 2228241 A . CI 1 12 not specified(US);not specified(LB);Marfan syndrome(LB);Thoracic aortic aneurysm and aortic dissection(LB);Cardiovascular phenotype(B);Geleophysic dysplasia(LB);Marfan syndrome(LB);MASS syndrome(LB);Thoracic aortic aneurysm and aortic dissection(LB);Stiff skin syndrome(LB);Weill-Marchesani syndrome(LB);Acromicric dysplasia(LB);Ectopia lentis(LB) 11/23/2017 -36.15 1.25 B 3 42335 Simple 140396599 T . CI 1 11 Stiff skin syndrome(LB);Marfan syndrome(LB);Ectopia lentis(LB);Geleophysic dysplasia(LB);Weill-Marchesani syndrome(LB);Acromicric dysplasia(LB);MASS syndrome(LB);Thoracic aortic aneurysm and aortic dissection(LB);not specified(LB);Cardiovascular phenotype(LB);Marfan syndrome(LB);Thoracic aortic aneurysm and aortic dissection(LB) 12/11/2017 -32.7 0.909090909 B 3 42356 Simple 377338217 T . CI 1 5 "not specified(LB);not specified(LB);Ectopia lentis, isolated, autosomal dominant(US);Marfan syndrome(US);MASS syndrome(US);Stiff skin syndrome(US);Weill-Marchesani syndrome 2(US);Acromicric dysplasia(US);Geleophysic dysplasia 2(US);Marfan lipodystrophy syndrome(US);Marfan syndrome(B);Thoracic aortic aneurysm and aortic dissection(B);Cardiovascular phenotype(LB)" 9/13/2017 -14.7 1.2 BLB 3 42367 Simple 183306990 A . CI 1 10 not specified(US);MASS syndrome(LB);Acromicric dysplasia(LB);Ectopia lentis(LB);Thoracic aortic aneurysm and aortic dissection(LB);Stiff skin syndrome(LB);Marfan syndrome(LB);Geleophysic dysplasia(LB);Weill-Marchesani syndrome(LB);Marfan syndrome(US);Thoracic aortic aneurysm and aortic dissection(US) 7/17/2017 -24.45 1.7 BLB 3 42370 Simple 148888513 T . CI 1 5 "not specified(US);not specified(LB);Cardiovascular phenotype(LB);Ectopia lentis, isolated, autosomal dominant(US);Marfan syndrome(US);MASS syndrome(US);Stiff skin syndrome(US);Weill-Marchesani syndrome 2(US);Acromicric dysplasia(US);Geleophysic dysplasia 2(US);Marfan lipodystrophy syndrome(US);Marfan syndrome(LB);Thoracic aortic aneurysm and aortic dissection(LB)" 12/21/2017 -8.61 2 BLB 3 42455 Simple 201449986 C . CI 1 5 not specified(LB);Hypertrophic cardiomyopathy(US);Fabry disease(US);not specified(LB);Fabry disease(LB) 10/25/2017 -8.4 1.6 BLB 3 42464 Simple 150547672 G . CI 1 5 not specified(B);not specified(B);Fabry disease(US);Fabry disease(LB);Cardiovascular phenotype(LB) 9/23/2017 -17.67 1.2 BLB 3 42487 Simple 397515877 ATCGCGCCCATCGCGCCC . CI 1 7 not specified(LB);Long QT syndrome(B);Cardiovascular phenotype(US);Cardiovascular phenotype(US);not specified(B);not provided(LB);not specified(B) 12/13/2017 -24.36 1.714285714 BLB 3 42535 Simple 35690719 A . CI 1 5 not specified(LB);not specified(US);Hypertrophic cardiomyopathy(B);not specified(LB);Familial hypertrophic cardiomyopathy 4(B) 4/20/2017 -17.01 2.2 BLB 3 42540 Simple 375882485 A . CI 1 12 "not provided(P);Primary familial hypertrophic cardiomyopathy(P);Hypertrophic cardiomyopathy(P);Cardiovascular phenotype(P);Left ventricular noncompaction cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Hypertrophic cardiomyopathy(P);not specified(P);Primary familial hypertrophic cardiomyopathy(P);not provided(LP);Familial hypertrophic cardiomyopathy 1(P);Cardiovascular phenotype(P)" 1/5/2018 54.6 1.083333333 P 3 42543 Simple 35736435 T . CI 1 10 not specified(LB);not specified(LB);Primary familial hypertrophic cardiomyopathy(LB);not specified(B);not specified(LB);Hypertrophic cardiomyopathy(B);Familial hypertrophic cardiomyopathy 4(US);Cardiovascular phenotype(LB);not provided(LB);not specified(LB) 11/13/2017 -27.57 2.5 B 3 42546 Simple 376041792 T . CI 1 4 not specified(LB);not specified(US);Hypertrophic cardiomyopathy(LB);Familial hypertrophic cardiomyopathy 4(LB) 1/8/2018 -8.85 2 BLB 3 42549 Simple 200224422 T . CI 1 6 not specified(LB);not specified(US);Hypertrophic cardiomyopathy(B);Cardiovascular phenotype(LB);Familial hypertrophic cardiomyopathy 4(B);Familial hypertrophic cardiomyopathy 4(B) 12/29/2017 -22.11 2 BLB 3 42551 Simple 370945942 T . CI 1 5 not specified(LB);not specified(B);not specified(US);Cardiovascular phenotype(LB);not provided(LB) 6/22/2017 -10.71 3.8 BLB 3 42571 Simple 397515929 A . CI 1 8 "not specified(LB);not specified(LB);Dilated Cardiomyopathy, Dominant(US);Hypertrophic cardiomyopathy(US);Left ventricular noncompaction cardiomyopathy(US);not specified(B);Hypertrophic cardiomyopathy(B);Cardiovascular phenotype(LB)" 12/13/2017 -18.6 2 BLB 3 42599 Simple 36211722 A . CI 1 9 "not specified(B);Hypertrophic cardiomyopathy(B);Cardiovascular phenotype(LB);Dilated Cardiomyopathy, Dominant(US);Hypertrophic cardiomyopathy(US);Left ventricular noncompaction cardiomyopathy(US);Familial hypertrophic cardiomyopathy 4(LB);Familial hypertrophic cardiomyopathy 4(B);not specified(LB)" 12/20/2017 -24.6 1.666666667 BLB 3 42626 Simple 199865688 T . CI 1 6 not specified(LB);not specified(LB);not specified(US);Primary familial hypertrophic cardiomyopathy(LB);Hypertrophic cardiomyopathy(LB);Cardiovascular phenotype(LB) 1/8/2018 -13.95 2 BLB 3 42647 Simple 190765116 T . CI 1 4 not specified(LB);not specified(LB);Hypertrophic cardiomyopathy(B);Cardiovascular phenotype(US) 1/30/2018 -12.3 0.25 BLB 3 42652 Simple 35078470 T . CI 1 10 not specified(US);Primary familial hypertrophic cardiomyopathy(B);not specified(LB);Hypertrophic cardiomyopathy(B);Hypertrophic cardiomyopathy(LB);Cardiovascular phenotype(B);Hypertrophic cardiomyopathy(LB);not specified(B);Familial hypertrophic cardiomyopathy 4(LB);Familial hypertrophic cardiomyopathy 4(B) 8/6/2017 -38.01 2 B 3 42666 Simple 397515991 T . CI 1 5 Primary familial hypertrophic cardiomyopathy(P);not provided(P);Primary familial hypertrophic cardiomyopathy(P);Hypertrophic cardiomyopathy(P);Cardiovascular phenotype(P) 9/28/2017 28.8 1 P 3 42687 Simple 200663253 A . CI 1 6 "not specified(LB);Cardiovascular phenotype(LB);Hypertrophic cardiomyopathy(US);Left ventricular noncompaction cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Hypertrophic cardiomyopathy(B)" 12/19/2017 -11.7 1.5 BLB 3 42688 Simple 61729664 A . CI 1 9 not specified(LB);not specified(LB);not specified(US);not specified(B);Hypertrophic cardiomyopathy(B);Cardiovascular phenotype(LB);not provided(LB);not specified(LB);Familial hypertrophic cardiomyopathy 4(LB) 11/28/2017 -28.14 1.222222222 B 3 42736 Simple 200162906 T . CI 1 7 "Cardiovascular phenotype(LB);Hypertrophic cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Left ventricular noncompaction cardiomyopathy(US);not specified(B);Hypertrophic cardiomyopathy(B);not specified(LB)" 12/21/2017 -17.1 1.428571429 BLB 3 42752 Simple 397516050 T . CI 1 8 not specified(US);not provided(LP);not specified(US);not provided(US);Hypertrophic cardiomyopathy(US);Familial hypertrophic cardiomyopathy 4(LP);Familial hypertrophic cardiomyopathy 4(P);Familial hypertrophic cardiomyopathy 4(P) 12/11/2017 15.81 1.75 P 3 42753 Simple 377520770 A . CI 1 4 not specified(LB);not specified(B);not specified(US);Cardiovascular phenotype(LB) 6/16/2015 -8.61 4 BLB 3 42757 Simple 150291001 A . CI 1 7 "not specified(LB);not specified(B);Left ventricular noncompaction cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Hypertrophic cardiomyopathy(US);Hypertrophic cardiomyopathy(LB);Cardiovascular phenotype(LB)" 11/30/2017 -11.1 2.571428571 BLB 3 42767 Simple 201012766 T . CI 1 9 not specified(US);not specified(B);Hypertrophic cardiomyopathy(B);not provided(LB);Cardiovascular phenotype(B);not specified(LB);Familial hypertrophic cardiomyopathy 4(LB);not specified(B);not specified(B) 12/13/2017 -35.31 2 B 3 42772 Simple 370962887 A . CI 1 4 not specified(B);not specified(US);Familial hypertrophic cardiomyopathy 4(B);Familial hypertrophic cardiomyopathy 4(LB) 6/28/2017 -14.58 2 BLB 3 42779 Simple 201098973 T . CI 1 8 not specified(LB);Primary familial hypertrophic cardiomyopathy(US);not specified(LB);not specified(US);Hypertrophic cardiomyopathy(LB);not provided(US);Cardiovascular phenotype(US);Primary familial hypertrophic cardiomyopathy(US) 11/6/2017 -10.32 1.375 BLB 3 42780 Simple 138753870 C . CI 1 7 not specified(B);not specified(B);not specified(LB);not provided(LB);Hypertrophic cardiomyopathy(B);Cardiovascular phenotype(B);not specified(LB) 1/19/2018 -29.4 2 B 3 42787 Simple 397516070 G . CI 1 4 Primary familial hypertrophic cardiomyopathy(P);not provided(P);Primary familial hypertrophic cardiomyopathy(P);Hypertrophic cardiomyopathy(LP) 8/4/2017 20.4 1 P 3 42800 Simple 397516079 A . CI 1 5 not specified(US);not specified(US);Hypertrophic cardiomyopathy(LB);Familial hypertrophic cardiomyopathy 4(LB);Familial hypertrophic cardiomyopathy 4(B) 7/25/2017 -12.48 1.6 BLB 3 42804 Simple 377595584 A . CI 1 5 not specified(LB);not specified(US);Hypertrophic cardiomyopathy(LB);Familial hypertrophic cardiomyopathy 4(B);Familial hypertrophic cardiomyopathy 4(B) 12/29/2017 -17.04 1.6 BLB 3 42820 Simple 397516088 T . CI 1 5 not specified(US);not provided(LP);Hypertrophic cardiomyopathy(P);Cardiovascular phenotype(LP);Primary familial hypertrophic cardiomyopathy(LP) 1/11/2018 14.79 1.4 P 3 42829 Simple 139506719 T . CI 1 12 "not specified(LB);not specified(US);Hypertrophic cardiomyopathy(LB);Dilated Cardiomyopathy, Dominant(LB);Left ventricular noncompaction cardiomyopathy(LB);Scapuloperoneal myopathy(LB);Myosin storage myopathy(LB);Myopathy, distal, 1(LB);not specified(B);Hypertrophic cardiomyopathy(LB);Familial hypertrophic cardiomyopathy 1(B);Cardiovascular phenotype(LB)" 10/26/2017 -36.57 1.666666667 B 3 42894 Simple 2069544 A . CI 1 5 not specified(LB);not specified(B);not specified(US);Cardiovascular phenotype(LB);Hypertrophic cardiomyopathy(LB) 8/28/2017 -13.14 2.2 BLB 3 42896 Simple 139882431 A . CI 1 11 "Hypertrophic cardiomyopathy(LB);Dilated Cardiomyopathy, Dominant(LB);Scapuloperoneal myopathy(LB);Left ventricular noncompaction cardiomyopathy(LB);Myopathy, distal, 1(LB);Myosin storage myopathy(LB);Hypertrophic cardiomyopathy(LB);not provided(US);Cardiovascular phenotype(LB);not specified(LB);not specified(US)" 1/26/2018 -27.51 1.090909091 B 3 42926 Simple 397516165 T . CI 1 5 not specified(US);not provided(P);Primary dilated cardiomyopathy(LP);Hypertrophic cardiomyopathy(P);Cardiovascular phenotype(LP) 11/8/2017 17.19 1.8 P 3 42938 Simple 45496496 G . CI 1 15 "Hypertrophic cardiomyopathy(US);Myopathy, distal, 1(LB);Dilated Cardiomyopathy, Dominant(LB);Hypertrophic cardiomyopathy(LB);Left ventricular noncompaction cardiomyopathy(LB);Myosin storage myopathy(LB);Scapuloperoneal myopathy(LB);not specified(US);not specified(US);not specified(US);Dilated cardiomyopathy(US);not specified(US);not provided(US);Cardiovascular phenotype(US);Familial hypertrophic cardiomyopathy 1(LP)" 4/5/2018 -17.25 1.066666667 BLB 3 42995 Simple 200852418 T . CI 1 11 "not specified(LB);not specified(B);not specified(US);Hypertrophic cardiomyopathy(LB);Scapuloperoneal myopathy(US);Myosin storage myopathy(US);Hypertrophic cardiomyopathy(US);Left ventricular noncompaction cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Myopathy, distal, 1(US);Cardiovascular phenotype(LB)" 11/17/2017 -13.11 2.181818182 BLB 3 43075 Simple 368706722 T . CI 1 5 not specified(US);not specified(B);Hypertrophic cardiomyopathy(LB);Cardiovascular phenotype(LB);not specified(LB) 11/29/2017 -14.01 1.8 BLB 3 43084 Simple 45523233 G . CI 1 9 "not specified(LB);not specified(B);Myosin storage myopathy(US);Myopathy, distal, 1(US);Dilated Cardiomyopathy, Dominant(US);Hypertrophic cardiomyopathy(US);Scapuloperoneal myopathy(US);Left ventricular noncompaction cardiomyopathy(US);Hypertrophic cardiomyopathy(LB)" 1/12/2018 -11.4 1.444444444 BLB 3 43098 Simple 45516091 A . CI 1 3 Primary dilated cardiomyopathy(P);not provided(LP);Cardiovascular phenotype(LP) 11/3/2015 10.5 2.333333333 PLP 3 43100 Simple 397516264 T . CI 1 6 Primary familial hypertrophic cardiomyopathy(P);Familial hypertrophic cardiomyopathy 1(LP);not specified(US);Cardiovascular phenotype(LP);Primary familial hypertrophic cardiomyopathy(LP);Hypertrophic cardiomyopathy(P) 11/15/2017 19.59 1.666666667 P 3 43222 Simple 111033252 A . CI 1 5 "not specified(B);not specified(US);Nonsyndromic Hearing Loss, Dominant(LB);Retinitis pigmentosa-deafness syndrome(LB);Nonsyndromic Hearing Loss, Recessive(LB)" 10/6/2016 -12.9 1.8 BLB 3 43260 Simple 139889944 A . CI 1 3 not specified(LB);Retinitis pigmentosa-deafness syndrome(LB);not specified(LB) 12/8/2016 -9 1 BLB 3 43278 Simple 111033287 T . CI 1 5 "not specified(B);not specified(US);Retinitis pigmentosa-deafness syndrome(LB);Nonsyndromic Hearing Loss, Recessive(LB);Nonsyndromic Hearing Loss, Dominant(LB)" 6/14/2016 -12.84 2.2 BLB 3 43358 Simple 397516338 G . CI 1 7 "not specified(LB);not provided(US);Limb-Girdle Muscular Dystrophy, Recessive(LB);Dilated Cardiomyopathy, Dominant(LB);Delta-sarcoglycanopathy(LB);Limb-girdle muscular dystrophy, type 2F(LB);Familial hypertrophic cardiomyopathy 1(LB)" 7/27/2017 -17.61 1.571428571 BLB 3 43361 Simple 370714315 - . CI 1 9 "not specified(LB);Cardiomyopathy(B);not specified(US);not specified(B);Hypertrophic cardiomyopathy(B);Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome(US);Familial restrictive cardiomyopathy(US);Dilated Cardiomyopathy, Recessive(US);Hypertrophic cardiomyopathy(US)" 1/1/2018 -17.55 2.555555556 BLB 3 43367 Simple 3729712 A . CI 1 5 not specified(B);not specified(LB);not specified(LB);Cardiovascular phenotype(LB);Hypertrophic cardiomyopathy(LB) 12/7/2017 -17.1 0.8 BLB 3 43372 Simple 75491697 T . CI 1 4 not specified(B);not specified(US);not specified(B);Hypertrophic cardiomyopathy(B) 1/1/2018 -13.95 3.75 BLB 3 43393 Simple 201240150 A . CI 1 4 not specified(LB);not specified(US);not specified(B);Hypertrophic cardiomyopathy(B) 11/20/2017 -13.71 2.25 BLB 3 43410 Simple 397516365 A . CI 1 5 "not specified(LB);Cardiovascular phenotype(LB);Dilated Cardiomyopathy, Dominant(US);Hypertrophic cardiomyopathy(US);Hypertrophic cardiomyopathy(B)" 9/18/2017 -11.7 1.2 BLB 3 43453 Simple 150127220 T . CI 1 6 not specified(B);Amyloidogenic transthyretin amyloidosis(B);Cardiovascular phenotype(B);Amyloidogenic transthyretin amyloidosis(US);not specified(B);not provided(B) 12/29/2017 -27.9 1.5 B 3 43455 Simple 2276382 A . CI 1 4 not specified(B);Amyloidogenic transthyretin amyloidosis(B);Cardiovascular phenotype(LB);not provided(B) 12/27/2017 -16.8 2.75 BLB 3 43491 Simple 145467740 A . CI 1 4 "not specified(B);not specified(LB);Nonsyndromic Hearing Loss, Recessive(US);Pendred's syndrome(US)" 6/14/2016 -8.7 1.5 BLB 3 43576 Simple 1800095 A . CI 1 7 Cystic fibrosis(B);Cystic fibrosis(LB);not provided(LB);not specified(LB);not specified(LB);not specified(US);not specified(B) 12/26/2017 -23.1 0.857142857 BLB 3 43587 Simple 397516434 T . CI 1 4 not provided(P);Li-Fraumeni syndrome(US);Hereditary cancer-predisposing syndrome(LP);not provided(LP) 3/29/2017 10.8 1.75 PLP 3 43588 Simple 1800371 A . CI 1 9 not specified(B);Hereditary cancer-predisposing syndrome(B);Li-Fraumeni syndrome 1(B);not specified(B);Li-Fraumeni syndrome(B);not specified(B);Hereditary cancer-predisposing syndrome(B);not specified(US);not provided(B) 1/10/2018 -42.15 2.444444444 B 3 43594 Simple 121913343 A . CI 1 5 not provided(P);Li-Fraumeni syndrome(P);not provided(P);Li-Fraumeni syndrome(LP);Hereditary cancer-predisposing syndrome(P) 1/4/2018 25.5 1.4 P 3 43621 Simple 140245123 C . CI 1 7 "not specified(LB);Familial restrictive cardiomyopathy(US);Hypertrophic cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Left ventricular noncompaction cardiomyopathy(US);not specified(LB);Familial hypertrophic cardiomyopathy 2(LB);Left ventricular noncompaction 6(LB);Familial restrictive cardiomyopathy 3(LB)" 12/3/2017 -8.7 2.142857143 BLB 3 43629 Simple 397516457 A . CI 1 4 not specified(US);not provided(P);Familial hypertrophic cardiomyopathy 2(P);Left ventricular noncompaction 6(P);Familial restrictive cardiomyopathy 3(P);Cardiovascular phenotype(P) 1/29/2018 17.76 1 P 3 43651 Simple 374443596 T . CI 1 9 "not specified(LB);not specified(US);Familial hypertrophic cardiomyopathy 2(B);Left ventricular noncompaction 6(B);Familial restrictive cardiomyopathy 3(B);Left ventricular noncompaction cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Familial restrictive cardiomyopathy(US);Hypertrophic cardiomyopathy(US);not specified(B);not provided(B)" 6/14/2016 -20.04 1.777777778 BLB 3 43675 Simple 200754249 A . CI 1 6 not specified(LB);not specified(US);Familial hypertrophic cardiomyopathy 2(LB);Left ventricular noncompaction 6(LB);Familial restrictive cardiomyopathy 3(LB);not provided(LB);not specified(LB);Increased left ventricular wall thickness(US) 3/7/2018 -11.85 1.833333333 BLB 3 43701 Simple 144256966 A . CI 1 5 "not specified(B);not specified(US);Catecholaminergic polymorphic ventricular tachycardia(B);Catecholaminergic polymorphic ventricular tachycardia(US);Cardiomyopathy, ARVC(US)" 1/22/2018 -9.87 2 BLB 3 43719 Simple 41267517 A . CI 1 6 "not specified(LB);not specified(US);Cardiovascular phenotype(LB);Catecholaminergic polymorphic ventricular tachycardia(US);Cardiomyopathy, ARVC(US);Catecholaminergic polymorphic ventricular tachycardia(B)" 1/9/2018 -12.24 1.5 BLB 3 43734 Simple 138498780 T . CI 1 6 "not specified(B);not specified(LB);Catecholaminergic polymorphic ventricular tachycardia(B);Catecholaminergic polymorphic ventricular tachycardia(US);Cardiomyopathy, ARVC(US);Cardiovascular phenotype(LB)" 1/10/2018 -15.3 2 BLB 3 43762 Simple 186181155 A . CI 1 6 "not specified(LB);not specified(US);Catecholaminergic polymorphic ventricular tachycardia(B);Catecholaminergic polymorphic ventricular tachycardia(US);Cardiomyopathy, ARVC(US);Cardiovascular phenotype(LB)" 1/22/2018 -12.54 1.333333333 BLB 3 43769 Simple 200525962 G . CI 1 5 not specified(LB);not provided(LB);not specified(US);Catecholaminergic polymorphic ventricular tachycardia(B);not provided(LB) 1/3/2018 -13.77 2 BLB 3 43772 Simple 397516526 C . CI 1 6 "not specified(LB);Catecholaminergic polymorphic ventricular tachycardia(B);not specified(B);Cardiomyopathy, ARVC(US);Catecholaminergic polymorphic ventricular tachycardia(US);not specified(B)" 2/10/2017 -18.9 2.166666667 BLB 3 43794 Simple 201880756 T . CI 1 7 "not specified(LB);Catecholaminergic polymorphic ventricular tachycardia(US);Cardiomyopathy, ARVC(US);not specified(B);Catecholaminergic polymorphic ventricular tachycardia(B);not provided(B);Cardiovascular phenotype(B)" 12/29/2017 -24.9 1.857142857 BLB 3 43807 Simple 373282364 G . CI 1 5 "not specified(LB);Cardiovascular phenotype(LB);Cardiomyopathy, ARVC(US);Catecholaminergic polymorphic ventricular tachycardia(US);Catecholaminergic polymorphic ventricular tachycardia(LB)" 12/1/2017 -9.3 1 BLB 3 43818 Simple 72549417 T . CI 1 5 "not specified(LB);Cardiomyopathy, ARVC(US);Catecholaminergic polymorphic ventricular tachycardia(US);Catecholaminergic polymorphic ventricular tachycardia(LB);not provided(B)" 7/20/2017 -11.4 1.6 BLB 3 43880 Simple 71473272 C . CI 1 7 "Dilated Cardiomyopathy, Dominant(US);Left ventricular noncompaction cardiomyopathy(US);Myofibrillar myopathy, ZASP-related(US);Myofibrillar Myopathy, Dominant(US);Myofibrillar myopathy, ZASP-related(B);Cardiovascular phenotype(B);not specified(B)" 1/2/2018 -15.6 1.714285714 BLB 3 43903 Simple 114008185 T . CI 1 6 "not specified(B);not specified(B);Dilated cardiomyopathy 1AA(B);Primary familial hypertrophic cardiomyopathy(B);Hypertrophic cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);not specified(B)" 12/13/2017 -19.8 2 BLB 3 43904 Simple 34827377 T . CI 1 6 "not specified(LB);not specified(B);Dilated cardiomyopathy 1AA(B);Primary familial hypertrophic cardiomyopathy(B);Hypertrophic cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Cardiovascular phenotype(LB)" 1/9/2018 -16.5 1.5 BLB 3 43906 Simple 397516567 T . CI 1 5 "not specified(LB);Dilated Cardiomyopathy, Dominant(US);Hypertrophic cardiomyopathy(US);not specified(B);Dilated cardiomyopathy 1AA(LB);Primary familial hypertrophic cardiomyopathy(LB)" 11/9/2017 -9.9 2.2 BLB 3 43909 Simple 200529923 A . CI 1 6 "not specified(LB);not specified(B);Dilated cardiomyopathy 1AA(B);Primary familial hypertrophic cardiomyopathy(B);Dilated Cardiomyopathy, Dominant(US);Hypertrophic cardiomyopathy(US);Cardiovascular phenotype(LB)" 12/29/2017 -16.2 1.666666667 BLB 3 43917 Simple 138452803 A . CI 1 6 "not specified(LB);not specified(LB);Cardiovascular phenotype(US);Dilated Cardiomyopathy, Dominant(US);Hypertrophic cardiomyopathy(US);Dilated cardiomyopathy 1AA(LB);Primary familial hypertrophic cardiomyopathy(LB)" 11/28/2017 -9.3 1 BLB 3 43934 Simple 146426213 A . CI 1 5 "not specified(LB);Hypertrophic cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Dilated cardiomyopathy 1AA(B);Primary familial hypertrophic cardiomyopathy(B);Cardiovascular phenotype(LB)" 12/21/2017 -11.7 1.4 BLB 3 43949 Simple 397516585 A . CI 1 3 not specified(US);not specified(LB);Dilated cardiomyopathy 1AA(B);Primary familial hypertrophic cardiomyopathy(B) 1/3/2018 -9.3 0.333333333 BLB 3 43966 Simple 200588338 T . CI 1 5 "not specified(LB);not specified(B);Dilated cardiomyopathy 1DD(LB);Dilated Cardiomyopathy, Dominant(US);Cardiovascular phenotype(LB)" 11/22/2017 -12 2.4 BLB 3 43969 Simple 61735272 C . CI 1 5 not specified(LB);not specified(LB);Dilated cardiomyopathy 1DD(LB);Cardiovascular phenotype(LB);not specified(LB) 1/5/2018 -13.8 1.2 BLB 3 43970 Simple 397516593 AGCAGC . CI 1 5 "not specified(B);Cardiomyopathy(US);Dilated cardiomyopathy 1DD(B);Dilated Cardiomyopathy, Dominant(US);Cardiovascular phenotype(B)" 11/3/2017 -17.31 1.6 BLB 3 43971 Simple 189569984 T . CI 1 6 not specified(LB);not specified(B);Dilated cardiomyopathy 1DD(B);Cardiovascular phenotype(B);not specified(LB);not specified(LB) 1/5/2018 -25.5 1.5 BLB 3 43978 Simple 397516597 AGGAGG . CI 1 4 "not specified(LB);Dilated Cardiomyopathy, Dominant(US);Dilated cardiomyopathy 1DD(LB);Cardiovascular phenotype(LB)" 1/9/2018 -9 1 BLB 3 43980 Simple 267607002 T . CI 1 3 not specified(US);not provided(P);Dilated cardiomyopathy 1DD(P) 12/29/2017 11.7 0 PLP 3 43983 Simple 41292592 T . CI 1 6 "not specified(B);not specified(B);Dilated Cardiomyopathy, Dominant(US);Dilated cardiomyopathy 1DD(B);not specified(LB);Cardiovascular phenotype(LB)" 12/22/2017 -20.4 2 BLB 3 43995 Simple 201370621 A . CI 1 7 not specified(B);not specified(B);not specified(B);Primary dilated cardiomyopathy(LB);Dilated cardiomyopathy 1DD(LB);Cardiovascular phenotype(B);not specified(LB) 1/9/2018 -29.7 1.714285714 B 3 44006 Simple 147356378 G . CI 1 6 not specified(US);not specified(B);not specified(B);Cardiovascular phenotype(LB);Dilated cardiomyopathy 1DD(B);Dilated cardiomyopathy 1DD(US) 12/22/2017 -20.85 1.666666667 BLB 3 44011 Simple 60618533 T . CI 1 4 "not specified(B);not specified(B);Dilated cardiomyopathy 1DD(B);Dilated Cardiomyopathy, Dominant(US)" 12/28/2017 -15.9 1.75 BLB 3 44018 Simple 199868951 A . CI 1 5 "not specified(LB);not specified(B);Dilated Cardiomyopathy, Dominant(US);Dilated cardiomyopathy 1DD(B);Cardiovascular phenotype(B)" 1/16/2018 -20.1 1.4 BLB 3 44024 Simple 183130427 T . CI 1 5 not specified(LB);not specified(US);not specified(LB);Dilated cardiomyopathy 1DD(B);Cardiovascular phenotype(B) 2/19/2018 -16.71 2 BLB 3 44110 Simple 56216952 T . CI 1 5 "not specified(B);not specified(LB);Retinitis pigmentosa-deafness syndrome(US);Nonsyndromic Hearing Loss, Recessive(US);not specified(LB)" 1/12/2018 -9.6 2 BLB 3 44158 Simple 397516641 - . CI 1 7 "not specified(LB);not specified(B);not provided(US);Cardiovascular phenotype(US);Catecholaminergic polymorphic ventricular tachycardia(B);not provided(B);Ventricular tachycardia, catecholaminergic polymorphic, 2(B)" 12/14/2017 -25.62 2.285714286 BLB 3 44161 Simple 74114618 T . CI 1 6 not specified(B);not specified(B);not specified(B);Catecholaminergic polymorphic ventricular tachycardia(US);Catecholaminergic polymorphic ventricular tachycardia(B);not provided(LB) 9/5/2017 -21.9 2.333333333 BLB 3 44164 Simple 139281637 T . CI 1 4 "not specified(US);not specified(B);Catecholaminergic polymorphic ventricular tachycardia(US);Ventricular tachycardia, catecholaminergic polymorphic, 2(B)" 7/1/2016 -10.2 2 BLB 3 44165 Simple 199939582 C . CI 1 6 "not specified(LB);not specified(LB);Catecholaminergic polymorphic ventricular tachycardia(US);not specified(US);Ventricular tachycardia, catecholaminergic polymorphic, 2(LB);Ventricular tachycardia, catecholaminergic polymorphic, 2(B)" 2/8/2018 -14.1 1.5 BLB 3 44232 Simple 2234704 A . CI 1 8 "not specified(LB);not specified(LB);not specified(US);Myofibrillar Myopathy, Dominant(LB);Posterior polar cataract(LB);Alpha-B crystallinopathy(LB);Dilated cardiomyopathy 1II(LB);Cardiovascular phenotype(LB)" 2/6/2018 -21 0.75 BLB 3 44255 Simple 199972656 A . CI 1 7 "not specified(LB);not specified(US);Myofibrillar myopathy 1(B);Muscular dystrophy, limb-girdle, type 2r(B);Myofibrillar Myopathy, Dominant(LB);Scapuloperoneal weakness(LB);Myofibrillar myopathy 1(LB);Dilated Cardiomyopathy, Dominant(LB)" 12/29/2017 -19.8 1.571428571 BLB 3 44265 Simple 41272699 T . CI 1 11 "not specified(B);not specified(B);Congenital diaphragmatic hernia(US);Myofibrillar myopathy 1(B);Muscular dystrophy, limb-girdle, type 2r(B);Cardiovascular phenotype(B);Dilated Cardiomyopathy, Dominant(LB);Scapuloperoneal weakness(LB);Myofibrillar Myopathy, Dominant(LB);Myofibrillar myopathy 1(LB);not specified(LB);not specified(B)" 1/5/2018 -38.04 2.090909091 B 3 44287 Simple 199681901 C . CI 1 5 "not specified(US);not provided(LB);Arrhythmogenic right ventricular cardiomyopathy, type 10(LB);not specified(LB);Cardiovascular phenotype(LB)" 3/7/2018 -11.34 1.4 BLB 3 44292 Simple 201654341 T . CI 1 5 "not specified(LB);not specified(B);not specified(US);Arrhythmogenic right ventricular cardiomyopathy, type 10(B);Cardiovascular phenotype(B)" 12/4/2017 -17.28 3.4 BLB 3 44293 Simple 200395484 G . CI 1 7 "not specified(LB);not specified(US);Cardiomyopathy, ARVC(US);Dilated Cardiomyopathy, Dominant(US);not specified(B);Arrhythmogenic right ventricular cardiomyopathy, type 10(B);Cardiovascular phenotype(B)" 12/4/2017 -20.28 2.142857143 BLB 3 44307 Simple 142841727 G . CI 1 10 "not specified(US);Arrhythmogenic right ventricular cardiomyopathy(B);not specified(B);not specified(B);Arrhythmogenic right ventricular cardiomyopathy(B);Arrhythmogenic right ventricular cardiomyopathy, type 10(B);Cardiovascular phenotype(B);not specified(B);not specified(B);not specified(LB)" 12/28/2017 -45.54 2.1 B 3 44313 Simple 191300661 G . CI 1 4 "not specified(LB);Arrhythmogenic right ventricular cardiomyopathy, type 10(B);not specified(US);Cardiovascular phenotype(LB)" 12/6/2017 -12.3 0.5 BLB 3 44314 Simple 79068489 G . CI 1 6 "not specified(LB);Dilated Cardiomyopathy, Dominant(US);Cardiomyopathy, ARVC(US);not specified(LB);Arrhythmogenic right ventricular cardiomyopathy, type 10(B);Cardiovascular phenotype(LB)" 11/30/2017 -13.8 1.666666667 BLB 3 44328 Simple 62095193 C . CI 1 6 "not specified(LB);not specified(LB);not specified(B);Arrhythmogenic right ventricular cardiomyopathy, type 10(LB);Cardiomyopathy, ARVC(US);Dilated Cardiomyopathy, Dominant(US)" 12/20/2017 -12.3 2.333333333 BLB 3 44334 Simple 3729856 G . CI 1 2 not specified(B);Cardiovascular phenotype(B) 12/13/2016 -11.4 1.5 BLB 3 44336 Simple 55980825 T . CI 1 9 not specified(B);Atrioventricular septal defect 4(B);Cardiovascular phenotype(LB);not specified(LB);Atrial septal defect 2(US);Atrioventricular septal defect 4(US);Primary dilated cardiomyopathy(US);Tetralogy of Fallot(US);Ventricular septal defect 1(US) 12/11/2017 -18.9 0.444444444 BLB 3 44347 Simple 3752579 T . CI 1 5 not specified(B);not provided(US);not specified(B);Dilated cardiomyopathy 1JJ(B);Cardiovascular phenotype(B) 9/29/2017 -21.81 2.2 BLB 3 44361 Simple 146868519 T . CI 1 6 not specified(US);not provided(LB);not specified(US);not specified(US);Dilated cardiomyopathy 1JJ(LB);Cardiovascular phenotype(LB) 2/5/2018 -8.94 1.333333333 BLB 3 44373 Simple 373650093 T . CI 1 4 not specified(US);not provided(US);not specified(B);Cardiovascular phenotype(LB) 1/5/2017 -8.82 2.75 BLB 3 44379 Simple 141988342 T . CI 1 4 not specified(US);not specified(B);Dilated cardiomyopathy 1JJ(US);Cardiovascular phenotype(LB) 6/19/2017 -8.85 2 BLB 3 44380 Simple 70940811 T . CI 1 5 not specified(US);not provided(US);not specified(B);Cardiovascular phenotype(B);Dilated cardiomyopathy 1JJ(B) 9/29/2017 -15.96 3.2 BLB 3 44402 Simple 147695488 T . CI 1 4 not specified(LB);Cardiovascular phenotype(US);not specified(LB);Dilated cardiomyopathy 1JJ(LB) 2/5/2018 -8.97 1 BLB 3 44415 Simple 200297370 G . CI 1 5 not specified(US);not specified(B);Hypertrophic cardiomyopathy(US);Danon disease(US);Cardiovascular phenotype(B) 4/13/2017 -10.98 2.4 BLB 3 44426 Simple 147369153 A . CI 1 5 not specified(LB);Cardiovascular phenotype(B);Danon disease(US);Hypertrophic cardiomyopathy(US);Danon disease(B) 8/4/2017 -14.7 1.2 BLB 3 44432 Simple 138991195 A . CI 1 6 not specified(LB);not specified(LB);not specified(US);Danon disease(B);Cardiovascular phenotype(LB);not specified(LB) 2/28/2018 -17.7 0.833333333 BLB 3 44433 Simple 201030806 T . CI 1 6 not specified(LB);not specified(B);Hypertrophic cardiomyopathy(US);Danon disease(US);Danon disease(LB);Cardiovascular phenotype(LB) 12/29/2017 -13.2 1.833333333 BLB 3 44446 Simple 58131640 A . CI 1 7 "not specified(B);Familial hypertrophic cardiomyopathy 14(B);not specified(B);Hypertrophic cardiomyopathy(US);Atrial septal defect(US);Dilated Cardiomyopathy, Dominant(US);not specified(B)" 12/21/2017 -21.3 1.714285714 BLB 3 44473 Simple 28730772 T . CI 1 11 "not specified(LB);Familial hypertrophic cardiomyopathy 14(LB);Cardiovascular phenotype(US);Hypertrophic cardiomyopathy(US);Atrial septal defect(US);Dilated Cardiomyopathy, Dominant(US);not specified(LB);Atrial septal defect 3(B);Dilated cardiomyopathy 1EE(B);Familial hypertrophic cardiomyopathy 14(B);not provided(B)" 1/2/2018 -33 0.818181818 B 3 44481 Simple 77679218 T . CI 1 7 "not specified(B);Familial hypertrophic cardiomyopathy 14(B);Cardiovascular phenotype(LB);Atrial septal defect(US);Dilated Cardiomyopathy, Dominant(US);Hypertrophic cardiomyopathy(US);not specified(B)" 1/4/2018 -18.9 1.571428571 BLB 3 44496 Simple 367866050 A . CI 1 6 "not specified(LB);Atrial septal defect(US);Hypertrophic cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Familial hypertrophic cardiomyopathy 14(B);not specified(LB)" 12/28/2017 -11.7 1.333333333 BLB 3 44509 Simple 145566711 T . CI 1 6 "not specified(B);Familial hypertrophic cardiomyopathy 14(B);Atrial septal defect(US);Hypertrophic cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);not specified(LB)" 10/25/2017 -13.5 1.5 BLB 3 44525 Simple 149460065 A . CI 1 7 "not specified(LB);Familial hypertrophic cardiomyopathy 14(LB);Cardiovascular phenotype(B);Hypertrophic cardiomyopathy(US);Atrial septal defect(US);Dilated Cardiomyopathy, Dominant(US);not specified(LB)" 12/22/2017 -12.9 1.714285714 BLB 3 44535 Simple 144329079 A . CI 1 4 not specified(B);not specified(US);not specified(LB);Familial hypertrophic cardiomyopathy 14(B) 2/9/2018 -12.24 2.25 BLB 3 44536 Simple 200854143 T . CI 1 6 "not specified(LB);Hypertrophic cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Atrial septal defect(US);Familial hypertrophic cardiomyopathy 14(B);Cardiovascular phenotype(B)" 1/7/2017 -15.3 1.333333333 BLB 3 44557 Simple 144807538 A . CI 1 5 "not specified(US);MYH9-related disorder(LB);Nonsyndromic Hearing Loss, Dominant(LB);not specified(LB);not specified(LB)" 12/14/2017 -11.67 1.4 BLB 3 44651 Simple 35766612 A . CI 1 7 not specified(LB);Thoracic aortic aneurysm and aortic dissection(LB);Loeys-Dietz syndrome(LB);Marfan syndrome(LB);Thoracic aortic aneurysm and aortic dissection(LB);Thoracic aortic aneurysm and aortic dissection(LB);not specified(LB) 1/9/2018 -19.5 1.571428571 BLB 3 44671 Simple 397516844 A . CI 1 4 "not specified(LB);Dilated Cardiomyopathy, Dominant(US);not specified(B);Loeys-Dietz syndrome 2(B)" 9/4/2016 -14.1 2 BLB 3 44679 Simple 397516845 G . CI 1 5 "not specified(LB);Dilated Cardiomyopathy, Dominant(US);Hypertrophic cardiomyopathy(US);not specified(LB);Cardiovascular phenotype(LB)" 10/9/2017 -8.4 1.6 BLB 3 44692 Simple 45476991 A . CI 1 7 "not specified(B);not specified(B);not specified(B);Familial hypertrophic cardiomyopathy 12(B);Dilated cardiomyopathy 1M(B);Cardiovascular phenotype(LB);Dilated Cardiomyopathy, Dominant(US);Hypertrophic cardiomyopathy(US)" 1/9/2018 -20.4 3 BLB 3 44694 Simple 138218523 T . CI 1 7 not specified(US);not specified(B);Hypertrophic cardiomyopathy(LB);not specified(LB);Familial hypertrophic cardiomyopathy 12(B);Dilated cardiomyopathy 1M(B);not provided(LB);Cardiovascular phenotype(LB) 4/5/2018 -22.95 1.285714286 BLB 3 44707 Simple 397516862 - . CI 1 10 not specified(US);not provided(LB);not provided(LB);Dilated cardiomyopathy 1N(LB);Primary familial hypertrophic cardiomyopathy(LB);not specified(LB);not specified(US);not specified(LB);Familial hypertrophic cardiomyopathy 1(B);Cardiovascular phenotype(LB);not specified(LB) 12/29/2017 -25.74 1.6 BLB 3 44714 Simple 146502276 G . CI 1 8 "not specified(LB);not specified(US);Dilated cardiomyopathy 1N(LB);Primary familial hypertrophic cardiomyopathy(LB);Cardiovascular phenotype(LB);Hypertrophic cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Dilated Cardiomyopathy, Dominant(US);not specified(B)" 12/30/2017 -14.4 1.375 BLB 3 44715 Simple 111033327 A . CI 1 9 "not specified(LB);not specified(US);not specified(B);Nonsyndromic Hearing Loss, Recessive(LB);Hystrix-like ichthyosis with deafness(LB);Nonsyndromic Hearing Loss, Dominant(LB);Mutilating keratoderma(LB);Keratitis-Ichthyosis-Deafness Syndrome(LB);not provided(B)" 6/14/2016 -25.74 2.333333333 BLB 3 44724 Simple 111033222 T . CI 1 10 "not specified(B);not specified(US);not specified(LB);Nonsyndromic Hearing Loss, Recessive(LB);Keratitis-Ichthyosis-Deafness Syndrome(LB);Hystrix-like ichthyosis with deafness(LB);Nonsyndromic Hearing Loss, Dominant(LB);Mutilating keratoderma(LB);not provided(US);not specified(LB)" 2/12/2018 -23.94 1.9 BLB 3 44740 Simple 104894408 A . CI 1 10 "Nonsyndromic hearing loss and deafness(LP);not specified(US);Hearing impairment(P);not provided(P);Deafness, autosomal recessive 1A(LP);Deafness, autosomal dominant 3a(LP);Deafness, autosomal recessive 1A(LP);not specified(LP);not provided(LP);Deafness, autosomal recessive 1A(LP)" 9/29/2017 28.83 1.7 P 3 44755 Simple 34988750 T . CI 1 11 "not specified(B);not specified(B);not specified(B);Keratitis-Ichthyosis-Deafness Syndrome(LB);Nonsyndromic Hearing Loss, Dominant(LB);Mutilating keratoderma(LB);Hystrix-like ichthyosis with deafness(LB);Nonsyndromic Hearing Loss, Recessive(LB);Nonsyndromic Deafness(US);not specified(US);not provided(LB)" 5/19/2017 -28.8 2.272727273 B 3 44782 Simple 151331972 A . CI 1 4 "not specified(B);not specified(B);not specified(B);Myofibrillar myopathy, BAG3-related(B);Dilated cardiomyopathy 1HH(B)" 12/15/2017 -18 3.25 BLB 3 44820 Simple 373442098 AA . CI 1 6 not specified(B);Rasopathy(B);not specified(B);Noonan syndrome(US);Cardio-facio-cutaneous syndrome(US);Noonan syndrome with multiple lentigines(US) 8/1/2017 -17.1 1.333333333 BLB 3 44858 Simple 368802003 G . CI 1 8 "not specified(US);not specified(B);Dilated cardiomyopathy with woolly hair and keratoderma(B);Arrhythmogenic right ventricular cardiomyopathy, type 8(B);Cardiovascular phenotype(B);Epidermolysis bullosa, lethal acantholytic(LB);Skin fragility woolly hair syndrome(LB);Ectodermal dysplasia skin fragility syndrome(LB);Cardiomyopathy, ARVC(LB)" 1/23/2018 -29.04 1.375 B 3 44860 Simple 28763961 T . CI 1 11 "not specified(B);not specified(B);not specified(US);not specified(B);Cardiovascular phenotype(B);not specified(B);Cardiomyopathy, ARVC(LB);Epidermolysis bullosa, lethal acantholytic(LB);Ectodermal dysplasia skin fragility syndrome(LB);Skin fragility woolly hair syndrome(LB);Dilated cardiomyopathy with woolly hair and keratoderma(B);Arrhythmogenic right ventricular cardiomyopathy, type 8(B)" 8/15/2017 -42.18 2.181818182 B 3 44867 Simple 34239595 G . CI 1 10 "not specified(US);not provided(LB);not specified(US);Cardiovascular phenotype(US);Ectodermal dysplasia skin fragility syndrome(LB);Epidermolysis bullosa, lethal acantholytic(LB);Skin fragility woolly hair syndrome(LB);Cardiomyopathy, ARVC(LB);not specified(US);Dilated cardiomyopathy with woolly hair and keratoderma(LB);Arrhythmogenic right ventricular cardiomyopathy, type 8(LB)" 1/9/2018 -18.24 1.4 BLB 3 44876 Simple 142429411 T . CI 1 11 "not specified(LB);not specified(LB);Arrhythmogenic right ventricular cardiomyopathy(US);Cardiovascular phenotype(LB);Ectodermal dysplasia skin fragility syndrome(LB);Skin fragility woolly hair syndrome(LB);Epidermolysis bullosa, lethal acantholytic(LB);Cardiomyopathy, ARVC(LB);Dilated cardiomyopathy with woolly hair and keratoderma(B);Arrhythmogenic right ventricular cardiomyopathy, type 8(B);not provided(LB);Arrhythmogenic right ventricular cardiomyopathy(US)" 1/25/2018 -29.97 1 B 3 44881 Simple 145933612 T . CI 1 9 "not specified(LB);not specified(US);not specified(LB);Arrhythmogenic right ventricular cardiomyopathy(US);Skin fragility woolly hair syndrome(LB);Epidermolysis bullosa, lethal acantholytic(LB);Cardiomyopathy, ARVC(LB);Ectodermal dysplasia skin fragility syndrome(LB);Dilated cardiomyopathy with woolly hair and keratoderma(LB);Arrhythmogenic right ventricular cardiomyopathy, type 8(LB)" 12/27/2017 -21.15 1.444444444 BLB 3 44897 Simple 61731476 A . CI 1 8 "not specified(B);not specified(US);Dilated cardiomyopathy with woolly hair and keratoderma(B);Arrhythmogenic right ventricular cardiomyopathy, type 8(B);Cardiovascular phenotype(B);Epidermolysis bullosa, lethal acantholytic(LB);Cardiomyopathy, ARVC(LB);Ectodermal dysplasia skin fragility syndrome(LB);Skin fragility woolly hair syndrome(LB)" 8/17/2017 -29.01 1.5 B 3 44906 Simple 28763965 G . CI 1 10 "not specified(LB);not provided(LB);not specified(US);Dilated cardiomyopathy with woolly hair and keratoderma(LB);Arrhythmogenic right ventricular cardiomyopathy, type 8(LB);Arrhythmogenic right ventricular cardiomyopathy(US);Cardiomyopathy, ARVC(LB);Epidermolysis bullosa, lethal acantholytic(LB);Skin fragility woolly hair syndrome(LB);Ectodermal dysplasia skin fragility syndrome(LB);Cardiovascular phenotype(LB)" 1/19/2018 -23.67 1.1 BLB 3 44910 Simple 148041814 T . CI 1 6 "not specified(LB);not specified(B);Arrhythmogenic right ventricular cardiomyopathy(US);Dilated cardiomyopathy with woolly hair and keratoderma(LB);Arrhythmogenic right ventricular cardiomyopathy, type 8(LB);not specified(LB);Cardiovascular phenotype(LB)" 1/3/2018 -14.67 2.333333333 BLB 3 44926 Simple 142885240 A . CI 1 12 "not specified(US);not provided(LB);not specified(LB);Dilated cardiomyopathy with woolly hair and keratoderma(LB);Arrhythmogenic right ventricular cardiomyopathy, type 8(LB);Epidermolysis bullosa, lethal acantholytic(LB);Cardiomyopathy, ARVC(LB);Ectodermal dysplasia skin fragility syndrome(LB);Skin fragility woolly hair syndrome(LB);Primary dilated cardiomyopathy(US);Migraine(US);Hemiplegia(US);not specified(US);Cardiovascular phenotype(LB);not specified(US)" 1/16/2018 -24.24 1.166666667 BLB 3 44929 Simple 78652302 T . CI 1 13 "Ectodermal dysplasia skin fragility syndrome(LB);Skin fragility woolly hair syndrome(LB);Epidermolysis bullosa, lethal acantholytic(LB);Cardiomyopathy, ARVC(LB);not specified(B);not provided(B);not specified(B);Cardiovascular phenotype(B);not specified(B);not specified(B);not specified(B);Dilated cardiomyopathy with woolly hair and keratoderma(B);Arrhythmogenic right ventricular cardiomyopathy, type 8(B);Arrhythmogenic right ventricular cardiomyopathy(B)" 1/24/2018 -57 2.076923077 B 3 44936 Simple 41302885 A . CI 1 14 "not provided(LB);Dilated cardiomyopathy with woolly hair and keratoderma(B);Arrhythmogenic right ventricular cardiomyopathy, type 8(B);Cardiovascular phenotype(LB);Cardiomyopathy, ARVC(LB);Ectodermal dysplasia skin fragility syndrome(LB);Skin fragility woolly hair syndrome(LB);Epidermolysis bullosa, lethal acantholytic(LB);Arrhythmogenic right ventricular cardiomyopathy, type 8(US);not specified(B);not specified(LB);not specified(US);not provided(LB);not specified(LB);not specified(B)" 1/3/2018 -43.05 1.785714286 B 3 44940 Simple 397516953 A . CI 1 2 "not specified(LB);Dilated cardiomyopathy with woolly hair and keratoderma(B);Arrhythmogenic right ventricular cardiomyopathy, type 8(B)" 1/1/2018 -8.4 1.5 BLB 3 44943 Simple 147000526 G . CI 1 11 "not specified(US);Arrhythmogenic right ventricular cardiomyopathy(LB);not provided(US);not specified(LB);Cardiomyopathy, ARVC(LB);Epidermolysis bullosa, lethal acantholytic(LB);Ectodermal dysplasia skin fragility syndrome(LB);Skin fragility woolly hair syndrome(LB);Dilated cardiomyopathy with woolly hair and keratoderma(LB);Arrhythmogenic right ventricular cardiomyopathy, type 8(LB);Cardiovascular phenotype(LB);Arrhythmogenic right ventricular cardiomyopathy(US)" 2/28/2018 -24.51 1.090909091 BLB 3 44945 Simple 147315869 A . CI 1 5 "not specified(US);not provided(LB);not specified(LB);Dilated cardiomyopathy with woolly hair and keratoderma(B);Arrhythmogenic right ventricular cardiomyopathy, type 8(B);Cardiovascular phenotype(B)" 2/16/2018 -17.37 1.2 BLB 3 44956 Simple 139509870 T . CI 1 5 "not specified(US);not provided(LB);Cardiovascular phenotype(US);not specified(LB);Dilated cardiomyopathy with woolly hair and keratoderma(LB);Arrhythmogenic right ventricular cardiomyopathy, type 8(LB)" 12/9/2017 -8.58 2 BLB 3 44960 Simple 397516962 - . CI 1 3 "Cardiovascular phenotype(US);Dilated cardiomyopathy with woolly hair and keratoderma(B);Arrhythmogenic right ventricular cardiomyopathy, type 8(B);not specified(LB)" 10/16/2017 -9.3 0.666666667 BLB 3 44962 Simple 397516963 C . CI 1 4 "not specified(LB);not specified(US);not specified(B);Dilated cardiomyopathy with woolly hair and keratoderma(B);Arrhythmogenic right ventricular cardiomyopathy, type 8(B)" 1/1/2018 -13.38 2.75 BLB 3 44968 Simple 138329459 C . CI 1 11 "not specified(B);not provided(LB);Arrhythmogenic right ventricular cardiomyopathy(US);Dilated cardiomyopathy with woolly hair and keratoderma(B);Arrhythmogenic right ventricular cardiomyopathy, type 8(B);Cardiomyopathy, ARVC(LB);Skin fragility woolly hair syndrome(LB);Ectodermal dysplasia skin fragility syndrome(LB);Epidermolysis bullosa, lethal acantholytic(LB);not provided(B);not specified(B);Cardiovascular phenotype(B)" 1/12/2018 -44.34 1.272727273 B 3 44969 Simple 142717240 G . CI 1 11 "not specified(US);not specified(US);not specified(US);not specified(US);Ectodermal dysplasia skin fragility syndrome(LB);Cardiomyopathy, ARVC(LB);Skin fragility woolly hair syndrome(LB);Epidermolysis bullosa, lethal acantholytic(LB);Dilated cardiomyopathy with woolly hair and keratoderma(US);Arrhythmogenic right ventricular cardiomyopathy, type 8(US);not provided(LB);Cardiovascular phenotype(US)" 1/19/2018 -16.65 1.181818182 BLB 3 44980 Simple 201930322 A . CI 1 6 "not specified(US);Epidermolysis bullosa, lethal acantholytic(LB);Ectodermal dysplasia skin fragility syndrome(LB);Cardiomyopathy, ARVC(LB);Skin fragility woolly hair syndrome(LB);Dilated cardiomyopathy with woolly hair and keratoderma(US);Arrhythmogenic right ventricular cardiomyopathy, type 8(US)" 10/5/2016 -12.45 1.833333333 BLB 3 44982 Simple 200476515 T . CI 1 8 "Dilated cardiomyopathy with woolly hair and keratoderma(US);Arrhythmogenic right ventricular cardiomyopathy, type 8(US);Cardiomyopathy, ARVC(LB);Skin fragility woolly hair syndrome(LB);Epidermolysis bullosa, lethal acantholytic(LB);Ectodermal dysplasia skin fragility syndrome(LB);Cardiovascular phenotype(US);not specified(US);not specified(US)" 10/31/2017 -13.17 0.875 BLB 3 44998 Simple 61744548 C . CI 1 3 "not specified(B);Nonsyndromic Hearing Loss, Recessive(US);not specified(B)" 1/18/2018 -9.3 2.333333333 BLB 3 44999 Simple 200237229 A . CI 1 4 "not specified(LB);not specified(LB);Nonsyndromic Hearing Loss, Recessive(US);not specified(LB)" 12/20/2017 -9 0.75 BLB 3 45003 Simple 139851304 C . CI 1 8 "not specified(B);not specified(LB);Arrhythmogenic right ventricular cardiomyopathy(LB);Arrhythmogenic right ventricular cardiomyopathy, type 9(B);Cardiomyopathy, ARVC(US);Cardiovascular phenotype(B);Arrhythmogenic right ventricular cardiomyopathy, type 9(LB);not specified(B)" 1/23/2018 -29.7 1.625 B 3 45007 Simple 200586695 G . CI 1 6 "Arrhythmogenic right ventricular cardiomyopathy(LB);not specified(LB);Arrhythmogenic right ventricular cardiomyopathy, type 9(LB);not specified(LB);Cardiovascular phenotype(US);not specified(US)" 12/29/2017 -11.61 1.5 BLB 3 45008 Simple 142742483 G . CI 1 5 "not specified(B);not specified(B);Arrhythmogenic right ventricular cardiomyopathy, type 9(B);Cardiomyopathy, ARVC(US);Arrhythmogenic right ventricular cardiomyopathy, type 9(B)" 1/22/2018 -19.5 2.2 BLB 3 45013 Simple 200122872 G . CI 1 7 "not specified(LB);not specified(B);Cardiomyopathy, ARVC(US);Arrhythmogenic right ventricular cardiomyopathy, type 9(LB);not provided(LB);Arrhythmogenic right ventricular cardiomyopathy, type 9(LB);Arrhythmogenic right ventricular cardiomyopathy, type 9(LB)" 1/22/2018 -18.6 1.571428571 BLB 3 45021 Simple 199571473 C . CI 1 5 "not specified(B);not provided(US);not specified(B);Cardiovascular phenotype(B);Arrhythmogenic right ventricular cardiomyopathy, type 9(B)" 11/20/2017 -22.41 1.8 BLB 3 45033 Simple 146882581 A . CI 1 8 "not specified(B);Arrhythmogenic right ventricular cardiomyopathy, type 9(B);Arrhythmogenic right ventricular cardiomyopathy(US);Cardiovascular phenotype(LB);not specified(LB);Arrhythmogenic right ventricular cardiomyopathy, type 9(LB);Arrhythmogenic right ventricular cardiomyopathy, type 9(LB);not specified(LB)" 1/23/2018 -24.27 1.75 BLB 3 45068 Simple 139734328 T . CI 1 8 "not specified(US);Arrhythmogenic right ventricular cardiomyopathy(B);not specified(US);Cardiovascular phenotype(LB);Arrhythmogenic right ventricular cardiomyopathy, type 9(LB);not specified(LB);Arrhythmogenic right ventricular cardiomyopathy, type 9(LB);Arrhythmogenic right ventricular cardiomyopathy, type 9(LB)" 2/13/2018 -19.68 1.375 BLB 3 45077 Simple 150821281 A . CI 1 11 "not specified(LB);Arrhythmogenic right ventricular cardiomyopathy(US);Dysplasia, arrhythmogenic right ventricular(LB);not specified(US);not specified(LB);not specified(LB);Cardiovascular phenotype(LB);Arrhythmogenic right ventricular cardiomyopathy, type 9(LB);not specified(LB);Arrhythmogenic right ventricular cardiomyopathy, type 9(LB);Arrhythmogenic right ventricular cardiomyopathy, type 9(US)" 1/5/2018 -22.62 1.909090909 BLB 3 45081 Simple 139139859 C . CI 1 8 "not specified(LB);Arrhythmogenic right ventricular cardiomyopathy(US);not provided(LB);not specified(LB);Arrhythmogenic right ventricular cardiomyopathy(US);Arrhythmogenic right ventricular cardiomyopathy, type 9(LB);Cardiovascular phenotype(LB);Arrhythmogenic right ventricular cardiomyopathy, type 9(LB)" 1/6/2018 -17.25 1.75 BLB 3 45083 Simple 62001015 A . CI 1 6 "not specified(LB);not provided(LB);not specified(LB);Arrhythmogenic right ventricular cardiomyopathy, type 9(B);Cardiomyopathy, ARVC(US);Cardiovascular phenotype(B)" 1/8/2018 -20.4 1.166666667 BLB 3 45097 Simple 190878719 A . CI 1 9 not specified(LB);not specified(US);not specified(B);Cardiovascular phenotype(LB);Loeys-Dietz syndrome(LB);Thoracic aortic aneurysm and aortic dissection(LB);Loeys-Dietz syndrome 1(LB);not specified(B);Thoracic aortic aneurysm and aortic dissection(LB) 12/26/2017 -27.24 2.222222222 B 3 45118 Simple 200229810 C . CI 1 4 not specified(LB);Cardio-facio-cutaneous syndrome(US);Noonan syndrome(US);not provided(B) 7/12/2016 -9 1.25 BLB 3 45357 Simple 202043599 T . CI 1 4 not specified(LB);not specified(LB);not provided(LB);Rasopathy(US) 8/14/2017 -9 1 BLB 3 45388 Simple 143346402 T . CI 1 7 "not specified(LB);Hypertrichotic osteochondrodysplasia(US);Familial atrial fibrillation(US);Dilated Cardiomyopathy, Dominant(US);not specified(B);Dilated cardiomyopathy 1O(LB);Cardiovascular phenotype(LB)" 9/23/2017 -13.5 1.571428571 BLB 3 45407 Simple 2291550 A . CI 1 6 "not specified(B);Dilated cardiomyopathy 1O(B);Familial atrial fibrillation(US);Hypertrichotic osteochondrodysplasia(US);Dilated Cardiomyopathy, Dominant(US);not specified(LB)" 10/16/2017 -13.5 1.5 BLB 3 45410 Simple 377384557 G . CI 1 7 "not specified(LB);Hypertrichotic osteochondrodysplasia(US);Dilated Cardiomyopathy, Dominant(US);Familial atrial fibrillation(US);not specified(LB);Dilated cardiomyopathy 1O(B);Cardiovascular phenotype(LB)" 11/3/2017 -14.7 1.285714286 BLB 3 45426 Simple 115931035 T . CI 1 5 "not specified(B);not specified(B);Nonsyndromic Hearing Loss, Recessive(US);Retinitis pigmentosa-deafness syndrome(US);not specified(B)" 7/1/2016 -14.4 2.4 BLB 3 45427 Simple 35188020 T . CI 1 5 "not specified(B);not specified(B);Nonsyndromic Hearing Loss, Recessive(US);Retinitis pigmentosa-deafness syndrome(US);not specified(LB)" 12/4/2017 -11.4 2.2 BLB 3 45454 Simple 397517197 ACGACG . CI 1 3 not specified(B);not specified(US);not specified(LB) 5/22/2017 -8.7 1.333333333 BLB 3 45486 Simple 41277374 G . CI 1 4 not specified(LB);not specified(LB);Primary dilated cardiomyopathy(B);Cardiovascular phenotype(US) 12/27/2017 -11.61 1.75 BLB 3 45501 Simple 150075979 T . CI 1 3 "not specified(B);not specified(US);Deafness, autosomal recessive 1A(B);Deafness, autosomal recessive 1b(B);Deafness, autosomal dominant 3b(B);Hidrotic ectodermal dysplasia syndrome(B)" 4/21/2017 -11.64 2 BLB 3 45503 Simple 35002004 T . CI 1 4 "not specified(B);not specified(US);Deafness, autosomal recessive 1A(B);Deafness, autosomal recessive 1b(B);Deafness, autosomal dominant 3b(B);Hidrotic ectodermal dysplasia syndrome(B);not specified(LB)" 8/29/2017 -13.41 2 BLB 3 45527 Simple 138951890 C . CI 1 7 "not specified(LB);not provided(US);not specified(LB);Myofibrillar myopathy, ZASP-related(LB);not specified(US);Cardiovascular phenotype(US);Familial dilated cardiomyopathy(US)" 2/2/2018 -10.11 0.857142857 BLB 3 45537 Simple 140552419 T . CI 1 4 "not specified(LB);Myofibrillar myopathy, ZASP-related(US);not specified(LB);Cardiovascular phenotype(LB)" 8/14/2017 -8.97 1.25 BLB 3 45563 Simple 61754640 A . CI 1 3 "not specified(B);Nonsyndromic Hearing Loss, Recessive(US);not specified(B)" 6/14/2016 -8.7 3 BLB 3 45564 Simple 35089879 T . CI 1 3 "not specified(B);Nonsyndromic Hearing Loss, Recessive(US);not specified(B)" 6/14/2016 -8.7 3 BLB 3 45571 Simple 338489 G . CI 1 3 "not specified(B);Nonsyndromic Hearing Loss, Recessive(US);not specified(B)" 6/14/2016 -8.7 3 BLB 3 45581 Simple 7904077 T . CI 1 5 "not specified(B);not specified(B);Dilated cardiomyopathy 1W(B);Dilated Cardiomyopathy, Dominant(US);not provided(B)" 12/21/2017 -19.5 2.8 BLB 3 45582 Simple 141033098 C . CI 1 8 not provided(LB);not specified(LB);Cardiovascular phenotype(LB);Dilated cardiomyopathy 1W(LB);not provided(LB);not specified(US);Familial dilated cardiomyopathy(US);not specified(US) 10/4/2017 -14.94 1.25 BLB 3 45587 Simple 137877092 T . CI 1 5 "not specified(B);not specified(B);Cardiovascular phenotype(B);Dilated Cardiomyopathy, Dominant(US);Dilated cardiomyopathy 1W(B)" 12/27/2017 -22.5 1.4 BLB 3 45588 Simple 189781480 G . CI 1 5 "not specified(B);Cardiovascular phenotype(LB);Dilated Cardiomyopathy, Dominant(US);Dilated cardiomyopathy 1W(B);not specified(LB)" 10/26/2017 -17.1 0.8 BLB 3 45594 Simple 71579374 G . CI 1 6 not specified(LB);not provided(LB);not specified(LB);Primary familial hypertrophic cardiomyopathy(US);Dilated cardiomyopathy 1W(B);Cardiovascular phenotype(US) 1/4/2018 -14.34 1.666666667 BLB 3 45602 Simple 397517237 - . CI 1 6 not specified(LB);Dilated cardiomyopathy(LB);not specified(LB);Dilated cardiomyopathy 1W(B);not specified(US);Cardiovascular phenotype(LB) 4/5/2018 -17.7 0.666666667 BLB 3 45609 Simple 71579379 T . CI 1 4 "not specified(B);not specified(B);Dilated cardiomyopathy 1W(B);Dilated Cardiomyopathy, Dominant(US)" 12/27/2017 -14.1 2.5 BLB 3 45613 Simple 148966602 T . CI 1 4 "not specified(LB);Dilated Cardiomyopathy, Dominant(US);not specified(LB);Dilated cardiomyopathy 1W(B)" 11/27/2017 -10.8 2.5 BLB 3 45627 Simple 397517249 C . CI 1 5 not specified(US);not specified(B);ANKRD1-related dilated cardiomyopathy(B);not provided(LB);Cardiovascular phenotype(LB) 8/1/2017 -17.31 1.8 BLB 3 45628 Simple 150797476 T . CI 1 7 not specified(US);Primary dilated cardiomyopathy(LB);not specified(LB);ANKRD1-related dilated cardiomyopathy(LB);Cardiovascular phenotype(LB);not specified(US);not provided(LB) 2/22/2018 -14.61 1.285714286 BLB 3 45631 Simple 397517250 - . CI 1 6 "not specified(LB);Cardiomyopathy(B);ANKRD1-related dilated cardiomyopathy(B);Dilated Cardiomyopathy, Dominant(US);Total anomalous pulmonary venous return(B);Total anomalous pulmonary venous return(B)" 10/11/2017 -23.1 2.333333333 BLB 3 45652 Simple 111033459 G . CI 1 5 "not specified(B);not specified(US);Nonsyndromic Hearing Loss, Recessive(US);Retinitis pigmentosa-deafness syndrome(US);not specified(LB)" 8/4/2017 -8.61 1.8 BLB 3 45658 Simple 139337135 C . CI 1 4 "not specified(B);not specified(B);Nonsyndromic Hearing Loss, Recessive(US);Retinitis pigmentosa-deafness syndrome(US)" 8/3/2016 -12 1.25 BLB 3 45676 Simple 117592152 T . CI 1 5 "not specified(B);not specified(B);Nonsyndromic Hearing Loss, Recessive(US);Retinitis pigmentosa-deafness syndrome(US);not specified(B)" 8/3/2017 -13.8 2.4 BLB 3 45681 Simple 146273185 T . CI 1 4 "not specified(B);not specified(B);Nonsyndromic Hearing Loss, Recessive(US);Retinitis pigmentosa-deafness syndrome(US)" 6/14/2016 -10.2 2 BLB 3 45686 Simple 116541276 C . CI 1 4 "not specified(B);not specified(US);Glycogen storage disease of heart, lethal congenital(B);Cardiovascular phenotype(LB)" 4/11/2017 -12.54 2.75 BLB 3 45688 Simple 144426409 T . CI 1 7 "not specified(B);not specified(B);Glycogen storage disease of heart, lethal congenital(B);Cardiovascular phenotype(LB);Glycogen storage disease of heart, lethal congenital(US);Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome(US);Wolff-Parkinson-White syndrome(US)" 1/2/2018 -17.7 1.857142857 BLB 3 45692 Simple 397517263 A . CI 1 6 "not specified(LB);Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome(US);Glycogen storage disease of heart, lethal congenital(US);Wolff-Parkinson-White syndrome(US);Glycogen storage disease of heart, lethal congenital(LB);Cardiovascular phenotype(LB)" 9/14/2017 -9.3 1.166666667 BLB 3 45696 Simple 201878539 A . CI 1 5 "not specified(LB);not specified(LB);not specified(US);Glycogen storage disease of heart, lethal congenital(LB);Cardiovascular phenotype(US)" 1/5/2018 -8.94 1.4 BLB 3 45710 Simple 142482217 T . CI 1 5 "not specified(LB);Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome(US);Glycogen storage disease of heart, lethal congenital(US);Wolff-Parkinson-White syndrome(US);Glycogen storage disease of heart, lethal congenital(B)" 1/4/2018 -8.7 1.6 BLB 3 45738 Simple 145029525 T . CI 1 7 "not specified(LB);Wolff-Parkinson-White syndrome(US);Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome(US);Glycogen storage disease of heart, lethal congenital(US);not specified(LB);Glycogen storage disease of heart, lethal congenital(LB);Cardiovascular phenotype(LB)" 9/1/2017 -11.4 1.571428571 BLB 3 45760 Simple 16960961 A . CI 1 3 "not specified(B);Nonsyndromic Hearing Loss, Recessive(US);not specified(B)" 9/25/2017 -9.3 2.333333333 BLB 3 45784 Simple 143345726 C . CI 1 5 not specified(US);not specified(LB);Cardiovascular phenotype(LB);Hypertrophic cardiomyopathy(LB);Familial hypertrophic cardiomyopathy 16(US) 3/13/2018 -9.48 1.4 BLB 3 45816 Simple 147376000 G . CI 1 4 "not specified(B);Nonsyndromic Hearing Loss, Recessive(US);not provided(LB);not specified(LB)" 2/22/2018 -10.5 1.25 BLB 3 45820 Simple 35010955 T . CI 1 3 "not specified(B);Nonsyndromic Hearing Loss, Recessive(US);not specified(B)" 8/3/2017 -9.3 2.333333333 BLB 3 45822 Simple 34067308 T . CI 1 3 "not specified(B);Nonsyndromic Hearing Loss, Recessive(US);not specified(B)" 8/3/2017 -9.3 2.333333333 BLB 3 45834 Simple 147370522 A . CI 1 7 "not specified(LB);not specified(B);Naxos disease(B);Arrhythmogenic right ventricular cardiomyopathy, type 12(B);Cardiomyopathy, ARVC(US);Naxos disease(US);not provided(B);Cardiovascular phenotype(LB)" 12/29/2017 -21.3 2 BLB 3 45861 Simple 185917383 T . CI 1 6 "not specified(B);not specified(B);Retinitis pigmentosa-deafness syndrome(US);CDH23-Related Disorders(US);Nonsyndromic Hearing Loss, Recessive(US);not specified(LB)" 2/5/2018 -14.7 1.166666667 BLB 3 45866 Simple 111033369 A . CI 1 5 "not specified(B);not specified(LB);Nonsyndromic Hearing Loss, Recessive(US);Retinitis pigmentosa-deafness syndrome(US);not specified(LB)" 6/14/2016 -10.2 2 BLB 3 45885 Simple 111033288 A . CI 1 5 "not specified(B);not specified(B);Retinitis pigmentosa-deafness syndrome(US);Nonsyndromic Hearing Loss, Recessive(US);not specified(LB)" 2/6/2018 -14.4 1.2 BLB 3 45891 Simple 181255269 T . CI 1 4 "not specified(B);not specified(LB);not specified(US);Deafness, autosomal recessive 12(US);Usher syndrome, type 1D(US)" 5/23/2017 -9 1.25 BLB 3 45892 Simple 397517316 - . CI 1 5 "not specified(B);Retinitis pigmentosa-deafness syndrome(US);Nonsyndromic Hearing Loss, Recessive(US);CDH23-Related Disorders(US);not specified(LB)" 10/19/2016 -8.7 1.4 BLB 3 45930 Simple 56107171 T . CI 1 3 not specified(B);not specified(US);not specified(B) 1/26/2015 -8.64 3.666666667 BLB 3 45939 Simple 79271090 T . CI 1 5 "not specified(B);Retinitis pigmentosa-deafness syndrome(US);Nonsyndromic Hearing Loss, Recessive(US);not specified(B);not specified(B)" 6/14/2016 -14.4 2.4 BLB 3 45973 Simple 114745089 C . CI 1 6 "not specified(B);Retinitis pigmentosa-deafness syndrome(US);Nonsyndromic Hearing Loss, Recessive(US);CDH23-Related Disorders(US);not specified(B);not specified(LB)" 1/19/2018 -12.3 1.833333333 BLB 3 46018 Simple 114827737 T . CI 1 5 "not specified(B);Nonsyndromic Hearing Loss, Recessive(US);Retinitis pigmentosa-deafness syndrome(US);CDH23-Related Disorders(US);not specified(B)" 1/26/2017 -9.9 2 BLB 3 46043 Simple 201733315 A . CI 1 3 not specified(B);not specified(LB);not specified(B) 11/30/2016 -9.9 4 BLB 3 46065 Simple 376497158 A . CI 1 5 "not specified(B);not specified(B);not specified(B);Nonsyndromic Hearing Loss, Recessive(US);Retinitis pigmentosa-deafness syndrome(US)" 6/14/2016 -12 3.2 BLB 3 46074 Simple 144906721 A . CI 1 6 not specified(B);not specified(US);Metachromatic leukodystrophy(LB);Atypical Gaucher Disease(LB);Combined saposin deficiency(LB);Galactosylceramide beta-galactosidase deficiency(LB) 6/14/2016 -15.18 2.5 BLB 3 46097 Simple 113747896 A . CI 1 3 "not specified(B);not specified(B);Nonsyndromic Hearing Loss, Recessive(US)" 6/14/2016 -8.7 3 BLB 3 46120 Simple 61731564 C . CI 1 3 "not specified(B);Nonsyndromic Hearing Loss, Recessive(US);not specified(B)" 12/8/2017 -9.3 2.666666667 BLB 3 46136 Simple 192707412 T . CI 1 4 "not specified(LB);not specified(B);Cardiomyopathy, ARVC(US);not specified(B)" 12/13/2016 -12.3 2.75 BLB 3 46140 Simple 116911972 C . CI 1 5 "not specified(B);not provided(US);not specified(LB);Arrhythmogenic right ventricular cardiomyopathy, type 5(B);Cardiovascular phenotype(B)" 1/4/2018 -19.41 1.8 BLB 3 46141 Simple 34099410 T . CI 1 5 "not specified(B);not specified(B);Arrhythmogenic right ventricular cardiomyopathy, type 5(B);Cardiovascular phenotype(B);Cardiomyopathy, ARVC(US)" 1/23/2018 -18.9 3.2 BLB 3 46156 Simple 11924644 T . CI 1 5 "not specified(B);not specified(B);Arrhythmogenic right ventricular cardiomyopathy, type 5(B);Cardiovascular phenotype(B);Cardiomyopathy, ARVC(US)" 1/12/2018 -18.9 2.6 BLB 3 46171 Simple 148185335 A . CI 1 8 "not specified(LB);not provided(LB);not specified(US);Arrhythmogenic right ventricular cardiomyopathy(US);Cardiovascular phenotype(LB);Arrhythmogenic right ventricular cardiomyopathy, type 11(LB);not provided(LB);not specified(LB)" 12/27/2017 -17.67 1.25 BLB 3 46172 Simple 200475862 T . CI 1 4 "not specified(US);not specified(LB);not specified(LB);Arrhythmogenic right ventricular cardiomyopathy, type 11(LB)" 9/28/2017 -8.85 2.25 BLB 3 46173 Simple 147742157 G . CI 1 5 "not specified(US);not provided(LB);not specified(LB);Arrhythmogenic right ventricular cardiomyopathy, type 11(B);not specified(US)" 2/26/2018 -11.67 1.4 BLB 3 46186 Simple 200056085 TCTC . CI 1 8 "not specified(B);Cardiomyopathy(B);Arrhythmogenic right ventricular cardiomyopathy(B);Arrhythmogenic right ventricular cardiomyopathy, type 11(B);not specified(B);Cardiovascular phenotype(B);Arrhythmogenic right ventricular cardiomyopathy, type 11(B);Arrhythmogenic right ventricular cardiomyopathy, type 11(B)" 1/12/2018 -38.4 2.875 B 3 46187 Simple 138643506 T . CI 1 7 "not specified(LB);not specified(B);Arrhythmogenic right ventricular cardiomyopathy, type 11(LB);Cardiovascular phenotype(LB);Cardiomyopathy, ARVC(US);Arrhythmogenic right ventricular cardiomyopathy, type 11(LB);Arrhythmogenic right ventricular cardiomyopathy, type 11(LB)" 12/14/2017 -19.2 1.285714286 BLB 3 46188 Simple 117812913 C . CI 1 6 "not specified(B);Arrhythmogenic right ventricular cardiomyopathy, type 11(B);Cardiovascular phenotype(B);Cardiomyopathy, ARVC(US);Arrhythmogenic right ventricular cardiomyopathy, type 11(LB);Arrhythmogenic right ventricular cardiomyopathy, type 11(B)" 1/13/2018 -21.9 2.5 BLB 3 46189 Simple 144799937 T . CI 1 7 "not specified(US);Arrhythmogenic right ventricular dysplasia(US);not specified(LB);not specified(LB);Arrhythmogenic right ventricular cardiomyopathy, type 11(LB);Cardiovascular phenotype(US);Arrhythmogenic right ventricular cardiomyopathy, type 11(LB)" 3/5/2018 -12.54 0.857142857 BLB 3 46202 Simple 145560678 T . CI 1 5 "not specified(LB);not specified(B);Arrhythmogenic right ventricular cardiomyopathy, type 11(B);Cardiovascular phenotype(US);Arrhythmogenic right ventricular cardiomyopathy, type 11(LB)" 11/4/2017 -18.3 0.6 BLB 3 46311 Simple 145556097 T . CI 1 4 "not specified(LB);Febrile seizures, familial, 4(US);not specified(LB);not specified(LB)" 12/21/2017 -8.91 1.5 BLB 3 46312 Simple 190922596 C . CI 1 4 "not specified(LB);Febrile seizures, familial, 4(US);not specified(LB);not specified(LB)" 12/21/2017 -8.61 1.75 BLB 3 46348 Simple 41308846 A . CI 1 5 "not specified(B);Febrile seizures, familial, 4(US);not specified(B);not specified(LB);not provided(LB)" 11/29/2017 -15.81 2.2 BLB 3 46374 Simple 41303344 A . CI 1 4 not specified(B);not specified(B);not specified(B);not provided(LB) 9/19/2016 -15.6 3.25 BLB 3 46431 Simple 139872140 T . CI 1 5 not specified(LB);not provided(US);not specified(LB);Left ventricular noncompaction 1(LB);Left ventricular noncompaction cardiomyopathy(LB) 3/1/2018 -11.61 1.6 BLB 3 46442 Simple 61735473 T . CI 1 6 "not specified(B);not specified(B);Retinitis pigmentosa-deafness syndrome(US);Nonsyndromic Hearing Loss, Recessive(US);not specified(B);not provided(B)" 10/31/2016 -19.2 2.666666667 BLB 3 46443 Simple 61735479 A . CI 1 5 "not specified(B);not specified(B);Nonsyndromic Hearing Loss, Recessive(US);Retinitis pigmentosa-deafness syndrome(US);not specified(LB)" 12/4/2017 -10.8 2.4 BLB 3 46454 Simple 111033516 T . CI 1 5 "not specified(B);not specified(B);not specified(LB);Retinitis pigmentosa-deafness syndrome(US);Nonsyndromic Hearing Loss, Recessive(US)" 6/14/2016 -11.7 2.4 BLB 3 46461 Simple 41307518 A . CI 1 4 "not specified(B);not specified(B);Nonsyndromic Hearing Loss, Recessive(US);Retinitis pigmentosa-deafness syndrome(US)" 3/1/2017 -9.6 2.5 BLB 3 46469 Simple 184144118 A . CI 1 5 "not specified(B);not specified(B);Nonsyndromic Hearing Loss, Recessive(US);Retinitis pigmentosa-deafness syndrome(US);not specified(LB)" 12/6/2017 -11.4 2.2 BLB 3 46474 Simple 111033496 A . CI 1 4 "not specified(B);Nonsyndromic Hearing Loss, Recessive(US);Retinitis pigmentosa-deafness syndrome(US);not specified(B)" 10/11/2016 -9.6 2.25 BLB 3 46484 Simple 111033362 C . CI 1 6 "not specified(B);not specified(B);not specified(LB);Nonsyndromic Hearing Loss, Recessive(US);Retinitis pigmentosa-deafness syndrome(US);not provided(LB)" 6/15/2017 -13.5 2.333333333 BLB 3 46493 Simple 397517465 - . CI 1 5 "not specified(LB);Nonsyndromic Hearing Loss, Recessive(US);Retinitis pigmentosa-deafness syndrome(US);not specified(LB);not specified(LB)" 1/24/2018 -9 1.2 BLB 3 46498 Simple 61862390 A . CI 1 6 "not specified(B);not specified(B);not specified(B);Usher syndrome, type 1F(LB);Retinitis pigmentosa-deafness syndrome(US);Nonsyndromic Hearing Loss, Recessive(US)" 6/14/2016 -13.5 3.5 BLB 3 46505 Simple 113363047 - . CI 1 4 not specified(B);not specified(B);not specified(B);not provided(B) 2/24/2017 -19.2 3 BLB 3 46516 Simple 28763880 G . CI 1 3 not specified(LB);Hypertrophic cardiomyopathy(US);Familial hypertrophic cardiomyopathy 1(B) 6/4/2017 -9 1 BLB 3 46517 Simple 17340492 T . CI 1 4 not specified(B);not specified(B);Familial hypertrophic cardiomyopathy 1(B);Hypertrophic cardiomyopathy(US) 7/27/2017 -13.5 2.75 BLB 3 46522 Simple 138130914 A . CI 1 4 not specified(LB);not provided(LB);not specified(LB);Familial hypertrophic cardiomyopathy 1(B) 12/20/2017 -13.5 2 BLB 3 46526 Simple 117502839 A . CI 1 5 not specified(US);not provided(LB);not specified(LB);Hypertrophic cardiomyopathy(US);Familial hypertrophic cardiomyopathy 1(LB) 2/23/2018 -8.7 1 BLB 3 46534 Simple 72546669 T . CI 1 5 not specified(LB);not specified(US);Long QT syndrome(B);not specified(B);Cardiovascular phenotype(LB) 1/4/2018 -16.5 2 BLB 3 46549 Simple 144505461 T . CI 1 3 not specified(B);not specified(B);Bartter's syndrome(US) 9/9/2016 -11.7 1.333333333 BLB 3 46556 Simple 145499142 A . CI 1 8 "not specified(LB);not specified(US);Fibrochondrogenesis(LB);Otospondylomegaepiphyseal dysplasia(LB);Stickler Syndrome, Dominant(LB);Nonsyndromic Hearing Loss, Dominant(LB);Weissenbacher-Zweymuller syndrome(LB);not specified(US)" 5/31/2017 -18.6 1 BLB 3 46577 Simple 148169214 T . CI 1 6 "not specified(LB);not provided(LB);not specified(LB);not provided(US);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);not specified(LB)" 10/17/2017 -13.17 2 BLB 3 46594 Simple 72648925 C . CI 1 6 "not specified(LB);not provided(LB);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Cardiovascular phenotype(LB);not specified(LB)" 12/28/2017 -21.6 2 BLB 3 46597 Simple 55972547 C . CI 1 5 "not specified(B);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Cardiovascular phenotype(US);not specified(B)" 1/10/2018 -19.98 3 BLB 3 46599 Simple 72648929 G . CI 1 13 "not specified(B);not specified(B);not specified(B);not specified(B);Cardiovascular phenotype(LB);Myopathy, early-onset, with fatal cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Distal myopathy Markesbery-Griggs type(US);Hereditary myopathy with early respiratory failure(US);Dilated Cardiomyopathy, Dominant(US);Hypertrophic cardiomyopathy(US);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(B)" 1/11/2018 -35.4 1.692307692 B 3 46603 Simple 72648930 G . CI 1 5 "not specified(US);not specified(B);not provided(LB);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);not specified(US)" 1/5/2018 -9.84 2.4 BLB 3 46613 Simple 143845692 G . CI 1 10 "not specified(LB);Cardiovascular phenotype(LB);Hereditary myopathy with early respiratory failure(US);Dilated Cardiomyopathy, Dominant(US);Hypertrophic cardiomyopathy(US);Distal myopathy Markesbery-Griggs type(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(LB)" 8/7/2017 -14.1 1.7 BLB 3 46614 Simple 72648937 T . CI 1 13 "Cardiovascular phenotype(LB);not specified(B);Distal myopathy Markesbery-Griggs type(US);Dilated Cardiomyopathy, Dominant(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);Hypertrophic cardiomyopathy(US);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(LB);not specified(B);not specified(B);not specified(LB)" 1/9/2018 -31.2 1.615384615 B 3 46618 Simple 72648940 A . CI 1 6 "not specified(US);not provided(LB);not specified(LB);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);Cardiovascular phenotype(LB);not specified(US)" 11/30/2017 -10.71 2.333333333 BLB 3 46621 Simple 72648942 C . CI 1 14 "not specified(B);not provided(LB);not specified(B);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Cardiovascular phenotype(LB);not specified(B);Hypertrophic cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Hereditary myopathy with early respiratory failure(US);Distal myopathy Markesbery-Griggs type(US);not provided(LB)" 1/11/2018 -36.9 1.5 B 3 46622 Simple 371785683 A . CI 1 10 "not specified(LB);Hypertrophic cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Hereditary myopathy with early respiratory failure(US);Distal myopathy Markesbery-Griggs type(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(LB)" 12/15/2017 -17.4 1.5 BLB 3 46633 Simple 146983095 C . CI 1 12 "not specified(B);not specified(B);not specified(B);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Cardiovascular phenotype(LB);Dilated Cardiomyopathy, Dominant(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Hereditary myopathy with early respiratory failure(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Distal myopathy Markesbery-Griggs type(US);Hypertrophic cardiomyopathy(US)" 2/14/2018 -28.8 1.833333333 B 3 46635 Simple 72648946 T . CI 1 10 "not specified(B);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Cardiovascular phenotype(B);Hypertrophic cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Distal myopathy Markesbery-Griggs type(US)" 1/5/2018 -19.2 2 BLB 3 46643 Simple 201263441 T . CI 1 11 "not specified(B);not provided(LB);not specified(LB);not specified(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Hypertrophic cardiomyopathy(US);Distal myopathy Markesbery-Griggs type(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Hereditary myopathy with early respiratory failure(US);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B)" 10/16/2017 -19.17 1.181818182 BLB 3 46644 Simple 72648949 C . CI 1 13 "not specified(LB);not specified(B);not specified(B);not specified(LB);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Cardiovascular phenotype(US);not specified(LB);Hypertrophic cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);Distal myopathy Markesbery-Griggs type(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Dilated Cardiomyopathy, Dominant(US)" 1/2/2018 -25.71 1.769230769 BLB 3 46645 Simple 146219199 G . CI 1 11 "not specified(LB);Cardiovascular phenotype(LB);Hereditary myopathy with early respiratory failure(US);Hypertrophic cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Distal myopathy Markesbery-Griggs type(US);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(LB)" 1/8/2018 -19.5 1.818181818 BLB 3 46646 Simple 184412722 C . CI 1 12 "not specified(B);not provided(US);not provided(LB);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(B);Dilated Cardiomyopathy, Dominant(US);Hypertrophic cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Distal myopathy Markesbery-Griggs type(US)" 1/10/2018 -25.71 1.75 BLB 3 46648 Simple 149131555 T . CI 1 10 "not specified(LB);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Distal myopathy Markesbery-Griggs type(US);Hypertrophic cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Dilated Cardiomyopathy, Dominant(US);Hereditary myopathy with early respiratory failure(US);Myopathy, early-onset, with fatal cardiomyopathy(US);not specified(B)" 12/28/2017 -20.1 1.5 BLB 3 46654 Simple 140495148 T . CI 1 10 "not specified(B);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Cardiovascular phenotype(LB);Myopathy, early-onset, with fatal cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Distal myopathy Markesbery-Griggs type(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Hypertrophic cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US)" 12/21/2017 -18.6 1.8 BLB 3 46658 Simple 76771282 G . CI 1 10 "not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Cardiovascular phenotype(LB);Distal myopathy Markesbery-Griggs type(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Hereditary myopathy with early respiratory failure(US);Hypertrophic cardiomyopathy(US);not specified(B)" 1/8/2018 -16.2 2.2 BLB 3 46661 Simple 116572520 A . CI 1 10 "not specified(LB);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Distal myopathy Markesbery-Griggs type(US);Hypertrophic cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Dilated Cardiomyopathy, Dominant(US);Hereditary myopathy with early respiratory failure(US);Myopathy, early-onset, with fatal cardiomyopathy(US);not specified(B)" 12/28/2017 -20.1 1.5 BLB 3 46667 Simple 146627500 C . CI 1 12 "not specified(B);not provided(US);not provided(LB);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(B);Limb-Girdle Muscular Dystrophy, Recessive(US);Hereditary myopathy with early respiratory failure(US);Dilated Cardiomyopathy, Dominant(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Hypertrophic cardiomyopathy(US);Distal myopathy Markesbery-Griggs type(US)" 1/10/2018 -25.71 1.75 BLB 3 46670 Simple 149470241 A . CI 1 6 "not specified(US);not provided(LB);not specified(LB);not specified(US);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);not specified(LB)" 12/28/2017 -11.58 1.833333333 BLB 3 46671 Simple 72648958 T . CI 1 7 "not specified(US);not provided(LB);not specified(LB);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);not specified(US);not specified(US);not specified(LB)" 1/11/2018 -11.91 1.571428571 BLB 3 46675 Simple 200118743 G . CI 1 6 "not specified(US);not provided(US);not specified(LB);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);not specified(US);not specified(LB)" 1/6/2018 -9.72 1.666666667 BLB 3 46676 Simple 146690035 A . CI 1 4 "not specified(LB);not provided(US);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(LB)" 2/6/2018 -11.01 2.25 BLB 3 46683 Simple 201394117 T . CI 1 12 "not specified(US);not specified(US);not provided(US);not specified(LB);Hypertrophic cardiomyopathy(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);Distal myopathy Markesbery-Griggs type(US);Dilated Cardiomyopathy, Dominant(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);not specified(LB)" 12/7/2017 -11.46 1.5 BLB 3 46684 Simple 72648965 C . CI 1 5 "not specified(LB);not provided(US);not specified(B);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);not specified(LB)" 12/13/2017 -12.21 2.6 BLB 3 46688 Simple 138853909 T . CI 1 10 "not specified(LB);not specified(LB);not specified(US);Distal myopathy Markesbery-Griggs type(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Hypertrophic cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Hereditary myopathy with early respiratory failure(US);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB)" 2/1/2018 -10.47 1.1 BLB 3 46694 Simple 202102237 A . CI 1 11 "not specified(B);not specified(LB);not specified(B);Hereditary myopathy with early respiratory failure(US);Distal myopathy Markesbery-Griggs type(US);Dilated Cardiomyopathy, Dominant(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Hypertrophic cardiomyopathy(US);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(B)" 12/20/2017 -26.4 1.363636364 BLB 3 46703 Simple 72648969 T . CI 1 12 "not specified(LB);not specified(B);not specified(LB);not specified(B);not specified(US);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Hypertrophic cardiomyopathy(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Distal myopathy Markesbery-Griggs type(US);Hereditary myopathy with early respiratory failure(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Dilated Cardiomyopathy, Dominant(US)" 1/3/2018 -23.04 1.666666667 BLB 3 46707 Simple 201904848 A . CI 1 9 "not specified(LB);not specified(B);Myopathy, early-onset, with fatal cardiomyopathy(US);Hypertrophic cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Distal myopathy Markesbery-Griggs type(US);Hereditary myopathy with early respiratory failure(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB)" 12/11/2017 -11.4 1.555555556 BLB 3 46711 Simple 190935632 G . CI 1 10 "not specified(B);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(B);Dilated Cardiomyopathy, Dominant(US);Hereditary myopathy with early respiratory failure(US);Hypertrophic cardiomyopathy(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Distal myopathy Markesbery-Griggs type(US);Limb-Girdle Muscular Dystrophy, Recessive(US)" 1/10/2018 -22.2 1.5 BLB 3 46717 Simple 72648973 T . CI 1 12 "not specified(US);not provided(LB);not specified(LB);Cardiovascular phenotype(US);not specified(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Distal myopathy Markesbery-Griggs type(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Dilated Cardiomyopathy, Dominant(US);Hypertrophic cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB)" 1/11/2018 -10.59 1.666666667 BLB 3 46718 Simple 72648975 T . CI 1 5 "not specified(US);not specified(B);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);not specified(US);not provided(US)" 12/13/2017 -8.61 1.8 BLB 3 46721 Simple 149523263 C . CI 1 12 "not specified(B);not provided(US);not provided(LB);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(B);Distal myopathy Markesbery-Griggs type(US);Dilated Cardiomyopathy, Dominant(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Hypertrophic cardiomyopathy(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US)" 1/10/2018 -25.71 1.75 BLB 3 46725 Simple 185062935 A . CI 1 10 "not specified(B);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(B);Distal myopathy Markesbery-Griggs type(US);Hereditary myopathy with early respiratory failure(US);Dilated Cardiomyopathy, Dominant(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Hypertrophic cardiomyopathy(US);Myopathy, early-onset, with fatal cardiomyopathy(US)" 1/10/2018 -23.4 1.3 BLB 3 46730 Simple 72648977 A . CI 1 9 "not specified(B);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Hypertrophic cardiomyopathy(US);Distal myopathy Markesbery-Griggs type(US);Dilated Cardiomyopathy, Dominant(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);Limb-Girdle Muscular Dystrophy, Recessive(US)" 12/27/2017 -14.4 1.888888889 BLB 3 46733 Simple 113391261 A . CI 1 11 "not specified(B);not specified(B);Cardiovascular phenotype(B);Myopathy, early-onset, with fatal cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Hypertrophic cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);Distal myopathy Markesbery-Griggs type(US);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(B)" 11/10/2017 -24.6 2 BLB 3 46736 Simple 72648979 C . CI 1 9 "not specified(B);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Hypertrophic cardiomyopathy(US);Distal myopathy Markesbery-Griggs type(US);Hereditary myopathy with early respiratory failure(US);Dilated Cardiomyopathy, Dominant(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Myopathy, early-onset, with fatal cardiomyopathy(US)" 12/27/2017 -14.4 1.888888889 BLB 3 46759 Simple 149855485 T . CI 1 12 "not specified(B);not provided(US);not provided(LB);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(B);Distal myopathy Markesbery-Griggs type(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);Hypertrophic cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Dilated Cardiomyopathy, Dominant(US)" 1/10/2018 -25.71 1.75 BLB 3 46764 Simple 150544093 T . CI 1 10 "not specified(LB);not specified(LB);Distal myopathy Markesbery-Griggs type(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);Hypertrophic cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B)" 12/19/2017 -17.7 1.4 BLB 3 46768 Simple 372802604 A . CI 1 10 "not specified(LB);Hereditary myopathy with early respiratory failure(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Distal myopathy Markesbery-Griggs type(US);Hypertrophic cardiomyopathy(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);not specified(LB);not specified(B);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB)" 10/16/2017 -15.3 1.3 BLB 3 46770 Simple 72648987 A . CI 1 12 "not specified(B);not specified(B);not specified(B);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Cardiovascular phenotype(B);Limb-Girdle Muscular Dystrophy, Recessive(US);Hypertrophic cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Hereditary myopathy with early respiratory failure(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Distal myopathy Markesbery-Griggs type(US)" 8/9/2017 -26.4 2.5 BLB 3 46771 Simple 141856116 T . CI 1 13 "Cardiovascular phenotype(LB);not specified(B);Distal myopathy Markesbery-Griggs type(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);Hypertrophic cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);not specified(B);not provided(LB);not specified(B);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B)" 1/2/2018 -30 2.153846154 B 3 46779 Simple 116307796 A . CI 1 11 "not specified(B);not specified(B);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Hereditary myopathy with early respiratory failure(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Distal myopathy Markesbery-Griggs type(US);Hypertrophic cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Dilated Cardiomyopathy, Dominant(US);Cardiovascular phenotype(B)" 1/9/2018 -24.6 2 BLB 3 46780 Simple 140003804 C . CI 1 10 "not specified(B);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(B);Dilated Cardiomyopathy, Dominant(US);Distal myopathy Markesbery-Griggs type(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);Hypertrophic cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US)" 12/5/2017 -20.4 1.8 BLB 3 46785 Simple 146057575 C . CI 1 11 "not specified(B);not specified(LB);not specified(LB);Limb-Girdle Muscular Dystrophy, Recessive(US);Hereditary myopathy with early respiratory failure(US);Dilated Cardiomyopathy, Dominant(US);Distal myopathy Markesbery-Griggs type(US);Hypertrophic cardiomyopathy(US);Myopathy, early-onset, with fatal cardiomyopathy(US);not specified(LB);Dilated cardiomyopathy 1G(US);Limb-girdle muscular dystrophy, type 2J(US)" 12/27/2017 -14.4 1.272727273 BLB 3 46787 Simple 142812510 T . CI 1 10 "not specified(B);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(B);Myopathy, early-onset, with fatal cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);Hypertrophic cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Distal myopathy Markesbery-Griggs type(US)" 1/3/2018 -19.8 1.9 BLB 3 46795 Simple 372528823 T . CI 1 10 "not specified(LB);not specified(US);Dilated Cardiomyopathy, Dominant(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Distal myopathy Markesbery-Griggs type(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Hereditary myopathy with early respiratory failure(US);Hypertrophic cardiomyopathy(US);not specified(B);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB)" 11/3/2017 -11.94 1.7 BLB 3 46806 Simple 144930507 A . CI 1 10 "not specified(LB);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(LB);Hypertrophic cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);Distal myopathy Markesbery-Griggs type(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Limb-Girdle Muscular Dystrophy, Recessive(US)" 12/5/2017 -17.4 1.4 BLB 3 46827 Simple 189286381 T . CI 1 6 "not specified(US);not provided(LB);not specified(LB);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(LB);not specified(LB)" 11/7/2017 -17.28 1.833333333 BLB 3 46830 Simple 72650010 C . CI 1 10 "not specified(B);not specified(B);not specified(B);Dilated Cardiomyopathy, Dominant(US);Hypertrophic cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Distal myopathy Markesbery-Griggs type(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B)" 1/11/2018 -24 1.2 BLB 3 46832 Simple 72650011 A . CI 1 6 "not provided(LB);not specified(B);not specified(US);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(LB);not specified(B)" 1/5/2018 -21.84 2.166666667 BLB 3 46833 Simple 188584219 G . CI 1 10 "not specified(B);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(B);Limb-Girdle Muscular Dystrophy, Recessive(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);Distal myopathy Markesbery-Griggs type(US);Hypertrophic cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US)" 1/10/2018 -21.6 1.6 BLB 3 46839 Simple 376768790 T . CI 1 5 "not specified(LB);not specified(LB);not specified(US);Dilated cardiomyopathy 1G(US);Limb-girdle muscular dystrophy, type 2J(US);Cardiovascular phenotype(LB)" 3/12/2018 -9.27 1.2 BLB 3 46841 Simple 111671438 A . CI 1 10 "not specified(US);not provided(LB);not specified(LB);not specified(US);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);not specified(US);not specified(LB);Dilated cardiomyopathy 1G(US);Limb-girdle muscular dystrophy, type 2J(US);Distal myopathy Markesbery-Griggs type(US)" 11/28/2017 -12.78 1.2 BLB 3 46854 Simple 397517538 - . CI 1 3 "not specified(LB);Dilated cardiomyopathy 1G(US);Limb-girdle muscular dystrophy, type 2J(US);not specified(B)" 1/29/2018 -8.7 0.666666667 BLB 3 46857 Simple 370080995 A . CI 1 11 "not specified(LB);not specified(LB);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);Myopathy, early-onset, with fatal cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Dilated Cardiomyopathy, Dominant(US);Hypertrophic cardiomyopathy(US);Distal myopathy Markesbery-Griggs type(US);Hereditary myopathy with early respiratory failure(US);not specified(LB);not specified(LB)" 11/22/2017 -15.9 1.090909091 BLB 3 46860 Simple 115119858 A . CI 1 5 "not specified(LB);not specified(LB);Cardiovascular phenotype(US);not specified(LB);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB)" 1/8/2018 -10.68 2.4 BLB 3 46864 Simple 72650029 C . CI 1 13 "not specified(B);not specified(B);not specified(B);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Cardiovascular phenotype(B);not specified(B);Dilated Cardiomyopathy, Dominant(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);Distal myopathy Markesbery-Griggs type(US);Hypertrophic cardiomyopathy(US)" 1/4/2018 -36 1.923076923 B 3 46873 Simple 72650031 A . CI 1 7 "not specified(LB);not provided(LB);not specified(B);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Cardiovascular phenotype(LB);not specified(B)" 1/11/2018 -28.5 2.428571429 B 3 46880 Simple 138192315 T . CI 1 9 "not specified(LB);not specified(B);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);Dilated Cardiomyopathy, Dominant(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Distal myopathy Markesbery-Griggs type(US);Hypertrophic cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Hereditary myopathy with early respiratory failure(US)" 12/8/2017 -11.7 1.333333333 BLB 3 46882 Simple 72650034 T . CI 1 6 "not specified(LB);not specified(US);not provided(LB);not specified(LB);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);Cardiovascular phenotype(US)" 11/27/2017 -10.98 2.166666667 BLB 3 46889 Simple 368327166 TCTTCT . CI 1 7 "not specified(B);not specified(B);not specified(US);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(B);Cardiovascular phenotype(B);not specified(B)" 8/9/2017 -27.84 3.142857143 B 3 46893 Simple 371318311 A . CI 1 4 "not specified(US);not specified(US);not specified(B);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB)" 10/4/2017 -8.82 2.5 BLB 3 46901 Simple 397517549 - . CI 1 9 "Limb-Girdle Muscular Dystrophy, Recessive(US);Hereditary myopathy with early respiratory failure(US);Distal myopathy Markesbery-Griggs type(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Hypertrophic cardiomyopathy(US);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(B);not specified(LB)" 12/30/2017 -15.6 1.222222222 BLB 3 46904 Simple 140640738 G . CI 1 12 "not specified(B);not provided(US);not provided(LB);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(B);Limb-Girdle Muscular Dystrophy, Recessive(US);Distal myopathy Markesbery-Griggs type(US);Dilated Cardiomyopathy, Dominant(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);Hypertrophic cardiomyopathy(US)" 1/10/2018 -25.71 1.75 BLB 3 46909 Simple 202014478 T . CI 1 7 "not specified(LB);not provided(LB);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Cardiovascular phenotype(US);not specified(LB);not specified(LB)" 1/23/2018 -22.08 2.428571429 BLB 3 46910 Simple 142951505 T . CI 1 17 "not specified(US);not provided(LB);not specified(US);Primary dilated cardiomyopathy(US);Primary dilated cardiomyopathy(US);Primary dilated cardiomyopathy(US);Cardiovascular phenotype(US);not specified(US);Hypertrophic cardiomyopathy(US);Distal myopathy Markesbery-Griggs type(B);Limb-Girdle Muscular Dystrophy, Recessive(US);Dilated Cardiomyopathy, Dominant(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Hereditary myopathy with early respiratory failure(B);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);not specified(US);not specified(US)" 12/19/2017 -20.64 1.823529412 BLB 3 46912 Simple 369095270 T . CI 1 4 "not specified(LB);not specified(US);not specified(LB);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB)" 10/26/2017 -9.27 0.75 BLB 3 46914 Simple 189966800 G . CI 1 12 "not specified(B);not specified(B);not specified(B);not specified(LB);Cardiovascular phenotype(LB);Myopathy, early-onset, with fatal cardiomyopathy(US);Hypertrophic cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Hereditary myopathy with early respiratory failure(US);Dilated Cardiomyopathy, Dominant(US);Distal myopathy Markesbery-Griggs type(US);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B)" 11/13/2017 -27.9 1.416666667 B 3 46922 Simple 12474306 T . CI 1 10 "not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Hereditary myopathy with early respiratory failure(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Distal myopathy Markesbery-Griggs type(US);Hypertrophic cardiomyopathy(US);not specified(B);not specified(B)" 1/8/2018 -18 2.2 BLB 3 46928 Simple 186404793 A . CI 1 9 "not specified(LB);Distal myopathy Markesbery-Griggs type(US);Hypertrophic cardiomyopathy(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Hereditary myopathy with early respiratory failure(US);Dilated Cardiomyopathy, Dominant(US);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(LB)" 12/6/2017 -13.2 1.111111111 BLB 3 46931 Simple 55914517 T . CI 1 7 "not specified(US);not provided(LB);not specified(LB);not specified(US);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);Cardiovascular phenotype(US);not specified(LB)" 1/8/2018 -11.46 2.571428571 BLB 3 46935 Simple 201944202 A . CI 1 13 "not specified(US);not provided(LB);not specified(LB);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);not specified(US);Hereditary myopathy with early respiratory failure(US);Distal myopathy Markesbery-Griggs type(US);Dilated Cardiomyopathy, Dominant(US);Hypertrophic cardiomyopathy(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);not specified(LB);Cardiovascular phenotype(US)" 12/28/2017 -13.68 1.384615385 BLB 3 46943 Simple 72650077 A . CI 1 13 "not specified(B);not specified(B);Cardiovascular phenotype(LB);not specified(B);Distal myopathy Markesbery-Griggs type(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);Hypertrophic cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(LB);not specified(B)" 12/27/2017 -31.5 1.923076923 B 3 46948 Simple 138331646 T . CI 1 11 "not specified(LB);not specified(US);Hypertrophic cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Distal myopathy Markesbery-Griggs type(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);Dilated Cardiomyopathy, Dominant(US);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);not specified(B);Cardiovascular phenotype(LB)" 10/12/2017 -15.87 1.363636364 BLB 3 46949 Simple 72647870 G . CI 1 6 "not specified(LB);not provided(LB);not specified(B);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);Cardiovascular phenotype(US);not specified(LB)" 12/28/2017 -16.41 2.333333333 BLB 3 46953 Simple 76815324 A . CI 1 10 "Cardiovascular phenotype(B);Myopathy, early-onset, with fatal cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Dilated Cardiomyopathy, Dominant(US);Hereditary myopathy with early respiratory failure(US);Distal myopathy Markesbery-Griggs type(US);Hypertrophic cardiomyopathy(US);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(B);not specified(B)" 12/29/2017 -18.6 2.1 BLB 3 46955 Simple 34706299 G . CI 1 13 "not specified(US);not provided(US);not specified(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Hypertrophic cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Distal myopathy Markesbery-Griggs type(US);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);not specified(LB);not specified(B);Cardiovascular phenotype(US)" 12/18/2017 -14.82 1.307692308 BLB 3 46978 Simple 78269740 A . CI 1 13 "not specified(B);not specified(B);not specified(B);not specified(B);Cardiovascular phenotype(B);Hypertrophic cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Distal myopathy Markesbery-Griggs type(US);Hereditary myopathy with early respiratory failure(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(B)" 11/10/2017 -36 1.923076923 B 3 46980 Simple 72677222 C . CI 1 9 "not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Myopathy, early-onset, with fatal cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Hereditary myopathy with early respiratory failure(US);Hypertrophic cardiomyopathy(US);Distal myopathy Markesbery-Griggs type(US);not specified(B)" 1/8/2018 -14.4 1.888888889 BLB 3 46988 Simple 72677225 A . CI 1 7 "not specified(B);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Cardiovascular phenotype(B);not specified(B);not specified(LB);not provided(US)" 12/20/2017 -29.61 2.285714286 B 3 46989 Simple 183245562 T . CI 1 4 "not specified(LB);not specified(LB);not specified(US);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB)" 12/21/2017 -8.67 1.25 BLB 3 46991 Simple 201057307 C . CI 1 14 "not specified(US);not provided(US);not provided(LB);not specified(LB);not specified(US);not specified(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Hypertrophic cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);Distal myopathy Markesbery-Griggs type(US);Dilated Cardiomyopathy, Dominant(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Cardiovascular phenotype(B)" 1/11/2018 -19.89 1.5 BLB 3 47006 Simple 115813214 A . CI 1 11 "not specified(LB);not specified(LB);Distal myopathy Markesbery-Griggs type(US);Dilated Cardiomyopathy, Dominant(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);Hypertrophic cardiomyopathy(US);not specified(LB);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Cardiovascular phenotype(LB)" 10/23/2017 -19.8 0.818181818 BLB 3 47007 Simple 72677231 A . CI 1 13 "not specified(LB);not specified(LB);not specified(B);not specified(LB);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Cardiovascular phenotype(LB);not specified(LB);Limb-Girdle Muscular Dystrophy, Recessive(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Hypertrophic cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);Distal myopathy Markesbery-Griggs type(US)" 1/9/2018 -24.9 1.615384615 BLB 3 47008 Simple 72677232 T . CI 1 12 "not specified(LB);not provided(LB);not specified(LB);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);Cardiovascular phenotype(LB);not specified(US);Hypertrophic cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Dilated Cardiomyopathy, Dominant(US);Distal myopathy Markesbery-Griggs type(US);Myopathy, early-onset, with fatal cardiomyopathy(US)" 1/3/2018 -15.57 1.25 BLB 3 47009 Simple 76081119 G . CI 1 10 "not specified(B);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Myopathy, early-onset, with fatal cardiomyopathy(US);Hypertrophic cardiomyopathy(US);Distal myopathy Markesbery-Griggs type(US);Dilated Cardiomyopathy, Dominant(US);Hereditary myopathy with early respiratory failure(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Cardiovascular phenotype(B)" 1/9/2018 -19.8 1.9 BLB 3 47010 Simple 72677233 T . CI 1 12 "not specified(LB);not specified(B);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Cardiovascular phenotype(LB);not specified(LB);Distal myopathy Markesbery-Griggs type(US);Dilated Cardiomyopathy, Dominant(US);Hypertrophic cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US)" 1/2/2018 -25.2 1.666666667 BLB 3 47013 Simple 146181477 T . CI 1 13 "not specified(B);not provided(US);not provided(LB);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(B);Distal myopathy Markesbery-Griggs type(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Dilated Cardiomyopathy, Dominant(US);Hereditary myopathy with early respiratory failure(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Hypertrophic cardiomyopathy(US);Cardiovascular phenotype(B)" 1/10/2018 -31.71 1.692307692 B 3 47015 Simple 72677237 T . CI 1 12 "not specified(B);not specified(B);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Cardiovascular phenotype(B);not specified(B);Myopathy, early-onset, with fatal cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);Distal myopathy Markesbery-Griggs type(US);Dilated Cardiomyopathy, Dominant(US);Hypertrophic cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US)" 8/9/2017 -32.4 1.666666667 B 3 47016 Simple 138576504 A . CI 1 11 "not specified(B);Hypertrophic cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Distal myopathy Markesbery-Griggs type(US);Dilated Cardiomyopathy, Dominant(US);Hereditary myopathy with early respiratory failure(US);Cardiovascular phenotype(B);not specified(LB);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B)" 12/5/2017 -26.7 1.272727273 B 3 47024 Simple 72677242 A . CI 1 12 "Cardiovascular phenotype(LB);not specified(B);Myopathy, early-onset, with fatal cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Distal myopathy Markesbery-Griggs type(US);Hereditary myopathy with early respiratory failure(US);Dilated Cardiomyopathy, Dominant(US);Hypertrophic cardiomyopathy(US);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(B);not provided(LB);not specified(B)" 11/27/2017 -27 1.833333333 B 3 47025 Simple 72677243 G . CI 1 7 "not specified(US);not provided(LB);not specified(B);not specified(LB);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);Cardiovascular phenotype(US);not specified(US)" 1/11/2018 -14.25 2.285714286 BLB 3 47036 Simple 55663050 G . CI 1 13 "not specified(B);not provided(US);not provided(LB);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(B);Limb-Girdle Muscular Dystrophy, Recessive(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);Distal myopathy Markesbery-Griggs type(US);Hypertrophic cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Cardiovascular phenotype(B)" 1/10/2018 -31.11 1.769230769 B 3 47042 Simple 397517599 G . CI 1 10 "not specified(US);not specified(LB);not specified(LB);Dilated Cardiomyopathy, Dominant(US);Distal myopathy Markesbery-Griggs type(US);Hypertrophic cardiomyopathy(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Hereditary myopathy with early respiratory failure(US);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B)" 7/14/2017 -14.01 1.2 BLB 3 47044 Simple 56137037 A . CI 1 11 "not specified(B);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Cardiovascular phenotype(LB);not specified(B);Myopathy, early-onset, with fatal cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Distal myopathy Markesbery-Griggs type(US);Hereditary myopathy with early respiratory failure(US);Dilated Cardiomyopathy, Dominant(US);Hypertrophic cardiomyopathy(US)" 1/10/2018 -22.2 2.090909091 BLB 3 47051 Simple 376857956 A . CI 1 5 "not specified(US);not specified(LB);Cardiovascular phenotype(LB);not specified(US);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B)" 3/1/2018 -12.54 1 BLB 3 47066 Simple 201213901 A . CI 1 6 "not specified(US);not provided(US);not provided(LB);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);not specified(US);not specified(LB)" 12/8/2017 -8.85 2 BLB 3 47070 Simple 72646808 T . CI 1 12 "not specified(B);not provided(LB);not specified(LB);not specified(LB);Hereditary myopathy with early respiratory failure(US);Dilated Cardiomyopathy, Dominant(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Distal myopathy Markesbery-Griggs type(US);Hypertrophic cardiomyopathy(US);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);Cardiovascular phenotype(US)" 1/3/2018 -18.9 1 BLB 3 47075 Simple 397517612 G . CI 1 10 "not specified(US);not specified(LB);not specified(LB);Limb-Girdle Muscular Dystrophy, Recessive(US);Dilated Cardiomyopathy, Dominant(US);Hereditary myopathy with early respiratory failure(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Distal myopathy Markesbery-Griggs type(US);Hypertrophic cardiomyopathy(US);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B)" 7/14/2017 -14.01 1.2 BLB 3 47097 Simple 201035511 A . CI 1 11 "not specified(US);not provided(LB);not specified(LB);not specified(US);Hereditary myopathy with early respiratory failure(US);Dilated Cardiomyopathy, Dominant(US);Distal myopathy Markesbery-Griggs type(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Hypertrophic cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB)" 12/7/2017 -10.41 1.363636364 BLB 3 47099 Simple 62178963 T . CI 1 11 "not specified(B);not specified(B);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Cardiovascular phenotype(LB);Hypertrophic cardiomyopathy(US);Distal myopathy Markesbery-Griggs type(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Dilated Cardiomyopathy, Dominant(US);Hereditary myopathy with early respiratory failure(US);Myopathy, early-onset, with fatal cardiomyopathy(US)" 1/9/2018 -21.6 2.181818182 BLB 3 47100 Simple 73973147 A . CI 1 13 "not specified(B);not specified(B);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not provided(B);Cardiovascular phenotype(B);Hypertrophic cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);Dilated Cardiomyopathy, Dominant(US);Distal myopathy Markesbery-Griggs type(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Myopathy, early-onset, with fatal cardiomyopathy(US);not specified(B)" 12/13/2017 -35.4 2 B 3 47106 Simple 72646823 C . CI 1 14 "not specified(B);not provided(LB);not specified(B);not specified(LB);Cardiovascular phenotype(LB);not specified(LB);Limb-Girdle Muscular Dystrophy, Recessive(US);Distal myopathy Markesbery-Griggs type(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Hypertrophic cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Hereditary myopathy with early respiratory failure(US);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(B)" 1/3/2018 -34.5 1.571428571 B 3 47127 Simple 55956577 A . CI 1 11 "not specified(B);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(B);Dilated Cardiomyopathy, Dominant(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Distal myopathy Markesbery-Griggs type(US);Hypertrophic cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);Cardiovascular phenotype(B)" 1/10/2018 -27 1.636363636 B 3 47135 Simple 397517636 T . CI 1 8 "Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Distal myopathy Markesbery-Griggs type(LB);Limb-Girdle Muscular Dystrophy, Recessive(LB);Hypertrophic cardiomyopathy(LB);Myopathy, early-onset, with fatal cardiomyopathy(LB);Hereditary myopathy with early respiratory failure(LB);Dilated Cardiomyopathy, Dominant(LB);not specified(US)" 10/27/2017 -24.21 1.25 BLB 3 47149 Simple 371719028 C . CI 1 5 "not specified(US);not provided(LB);not specified(LB);not specified(US);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB)" 12/19/2017 -8.61 1.8 BLB 3 47150 Simple 367622770 T . CI 1 12 "not specified(LB);not specified(B);Cardiovascular phenotype(LB);Hypertrophic cardiomyopathy(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Dilated Cardiomyopathy, Dominant(US);Distal myopathy Markesbery-Griggs type(US);Hereditary myopathy with early respiratory failure(US);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);not specified(LB);not specified(LB)" 1/11/2018 -19.5 1.583333333 BLB 3 47151 Simple 188063446 C . CI 1 10 "not specified(LB);not specified(LB);Myopathy, early-onset, with fatal cardiomyopathy(US);Hypertrophic cardiomyopathy(US);Distal myopathy Markesbery-Griggs type(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Hereditary myopathy with early respiratory failure(US);Dilated Cardiomyopathy, Dominant(US);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B)" 12/15/2017 -17.7 1.4 BLB 3 47155 Simple 72646842 A . CI 1 10 "not specified(B);Distal myopathy Markesbery-Griggs type(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Dilated Cardiomyopathy, Dominant(US);Hereditary myopathy with early respiratory failure(US);Hypertrophic cardiomyopathy(US);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(B)" 3/16/2017 -22.2 1.6 BLB 3 47156 Simple 202017608 T . CI 1 10 "not specified(B);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Cardiovascular phenotype(LB);Myopathy, early-onset, with fatal cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);Hypertrophic cardiomyopathy(US);Distal myopathy Markesbery-Griggs type(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Dilated Cardiomyopathy, Dominant(US)" 12/22/2017 -19.2 1.7 BLB 3 47163 Simple 200212521 G . CI 1 11 "not specified(US);not provided(LB);not specified(LB);not specified(LB);Hypertrophic cardiomyopathy(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);Dilated Cardiomyopathy, Dominant(US);Distal myopathy Markesbery-Griggs type(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB)" 12/6/2017 -13.05 1.545454545 BLB 3 47165 Simple 72646845 A . CI 1 11 "not specified(B);not specified(B);not specified(B);Cardiovascular phenotype(B);Limb-Girdle Muscular Dystrophy, Recessive(US);Dilated Cardiomyopathy, Dominant(US);Hereditary myopathy with early respiratory failure(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Distal myopathy Markesbery-Griggs type(US);Hypertrophic cardiomyopathy(US);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B)" 1/11/2018 -29.4 1.272727273 B 3 47172 Simple 147580753 C . CI 1 6 "not specified(LB);not provided(US);not specified(LB);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);not specified(US);Cardiovascular phenotype(LB)" 12/12/2017 -11.01 2.166666667 BLB 3 47177 Simple 199895260 T . CI 1 12 "not specified(LB);not provided(LB);not specified(LB);not specified(LB);Hereditary myopathy with early respiratory failure(US);Dilated Cardiomyopathy, Dominant(US);Distal myopathy Markesbery-Griggs type(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Hypertrophic cardiomyopathy(US);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Cardiovascular phenotype(LB)" 12/20/2017 -21.3 1.25 BLB 3 47184 Simple 141213991 A . CI 1 12 "not specified(US);not provided(LB);not specified(US);not specified(LB);Myopathy, early-onset, with fatal cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Hypertrophic cardiomyopathy(US);Distal myopathy Markesbery-Griggs type(US);Hereditary myopathy with early respiratory failure(US);Dilated Cardiomyopathy, Dominant(US);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);Cardiovascular phenotype(US)" 12/29/2017 -10.8 0.916666667 BLB 3 47187 Simple 375006117 A . CI 1 12 "not specified(LB);Limb-Girdle Muscular Dystrophy, Recessive(US);Hereditary myopathy with early respiratory failure(US);Dilated Cardiomyopathy, Dominant(US);Distal myopathy Markesbery-Griggs type(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Hypertrophic cardiomyopathy(US);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);not specified(LB);not specified(US);not specified(LB);Cardiovascular phenotype(LB)" 12/4/2017 -15.9 1.166666667 BLB 3 47188 Simple 72646850 A . CI 1 11 "not specified(B);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Cardiovascular phenotype(B);Hereditary myopathy with early respiratory failure(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Distal myopathy Markesbery-Griggs type(US);Hypertrophic cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);not specified(B)" 1/11/2018 -22.2 2.363636364 BLB 3 47197 Simple 72646855 C . CI 1 13 "not provided(US);not specified(LB);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);Hypertrophic cardiomyopathy(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Distal myopathy Markesbery-Griggs type(US);Dilated Cardiomyopathy, Dominant(US);Hereditary myopathy with early respiratory failure(US);Limb-Girdle Muscular Dystrophy, Recessive(US);not specified(US);Cardiovascular phenotype(US);not specified(US);not specified(US)" 12/22/2017 -9.15 1.230769231 BLB 3 47200 Simple 200463088 A . CI 1 11 "not specified(LB);Cardiovascular phenotype(LB);not specified(LB);Distal myopathy Markesbery-Griggs type(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Hereditary myopathy with early respiratory failure(US);Hypertrophic cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B)" 10/4/2017 -20.1 1.636363636 BLB 3 47201 Simple 202240487 T . CI 1 5 "not specified(B);not provided(US);not specified(B);not specified(LB);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B)" 1/15/2018 -19.41 2 BLB 3 47208 Simple 72646859 A . CI 1 7 "not specified(US);not provided(LB);not specified(US);not specified(LB);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);Cardiovascular phenotype(LB);not specified(US)" 2/28/2018 -11.88 1.571428571 BLB 3 47210 Simple 146496197 A . CI 1 11 "not specified(US);not provided(LB);not specified(LB);not specified(US);Dilated Cardiomyopathy, Dominant(US);Hypertrophic cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);Distal myopathy Markesbery-Griggs type(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB)" 12/26/2017 -10.38 1.545454545 BLB 3 47212 Simple 148434577 A . CI 1 6 "not specified(LB);not specified(US);not specified(B);not specified(LB);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Cardiovascular phenotype(LB)" 11/21/2017 -20.4 1 BLB 3 47213 Simple 150661999 T . CI 1 7 "not specified(B);not provided(US);not provided(LB);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(B);Cardiovascular phenotype(B)" 1/10/2018 -29.31 2.428571429 B 3 47222 Simple 56130023 A . CI 1 14 "not specified(B);not provided(LB);not specified(LB);not specified(US);Hereditary myopathy with early respiratory failure(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Distal myopathy Markesbery-Griggs type(US);Hypertrophic cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);not specified(US);not specified(B);Cardiovascular phenotype(B)" 1/3/2018 -28.47 1.071428571 B 3 47229 Simple 148849567 T . CI 1 11 "Cardiovascular phenotype(LB);not specified(LB);Myopathy, early-onset, with fatal cardiomyopathy(US);Hypertrophic cardiomyopathy(US);Distal myopathy Markesbery-Griggs type(US);Hereditary myopathy with early respiratory failure(US);Dilated Cardiomyopathy, Dominant(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);not specified(LB);not specified(LB)" 12/14/2017 -15 1.363636364 BLB 3 47230 Simple 72646867 A . CI 1 11 "not specified(B);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(B);Myopathy, early-onset, with fatal cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Distal myopathy Markesbery-Griggs type(US);Hereditary myopathy with early respiratory failure(US);Hypertrophic cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Cardiovascular phenotype(B)" 1/3/2018 -28.2 1.454545455 B 3 47236 Simple 72646869 T . CI 1 11 "not specified(B);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Cardiovascular phenotype(B);Distal myopathy Markesbery-Griggs type(US);Hereditary myopathy with early respiratory failure(US);Dilated Cardiomyopathy, Dominant(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Hypertrophic cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);not specified(B)" 8/4/2017 -22.2 2.363636364 BLB 3 47241 Simple 371802557 A . CI 1 10 "not specified(LB);not specified(B);Limb-Girdle Muscular Dystrophy, Recessive(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Distal myopathy Markesbery-Griggs type(US);Hypertrophic cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B)" 11/6/2017 -20.4 1.5 BLB 3 47243 Simple 200343420 T . CI 1 11 "not specified(LB);not specified(LB);Dilated Cardiomyopathy, Dominant(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Hypertrophic cardiomyopathy(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);Distal myopathy Markesbery-Griggs type(US);not specified(LB);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);Cardiovascular phenotype(LB)" 2/5/2018 -16.8 0.818181818 BLB 3 47248 Simple 72646873 G . CI 1 12 "not specified(LB);not specified(B);not specified(LB);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);not specified(LB);Hereditary myopathy with early respiratory failure(US);Distal myopathy Markesbery-Griggs type(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Hypertrophic cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Cardiovascular phenotype(US)" 2/22/2018 -17.4 1.25 BLB 3 47253 Simple 72646876 C . CI 1 11 "not specified(B);not specified(B);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Cardiovascular phenotype(LB);Hypertrophic cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Hereditary myopathy with early respiratory failure(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Distal myopathy Markesbery-Griggs type(US);Limb-Girdle Muscular Dystrophy, Recessive(US)" 11/27/2017 -25.2 1.636363636 BLB 3 47256 Simple 144135510 T . CI 1 6 "Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Cardiovascular phenotype(US);not specified(B);not specified(B);not specified(B);not provided(LB)" 1/4/2018 -25.68 2 BLB 3 47260 Simple 11904444 T . CI 1 10 "not specified(B);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Cardiovascular phenotype(LB);Limb-Girdle Muscular Dystrophy, Recessive(US);Hereditary myopathy with early respiratory failure(US);Distal myopathy Markesbery-Griggs type(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Hypertrophic cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US)" 1/9/2018 -16.2 2.2 BLB 3 47265 Simple 55980498 A . CI 1 12 "not specified(LB);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Cardiovascular phenotype(LB);not specified(LB);Hypertrophic cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Distal myopathy Markesbery-Griggs type(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Hereditary myopathy with early respiratory failure(US);not specified(LB)" 1/11/2018 -24 1.25 BLB 3 47268 Simple 72646880 G . CI 1 11 "not specified(LB);not specified(LB);not specified(LB);Dilated Cardiomyopathy, Dominant(US);Hypertrophic cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Distal myopathy Markesbery-Griggs type(US);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);Cardiovascular phenotype(LB)" 1/1/2018 -15.9 1.090909091 BLB 3 47292 Simple 55847238 T . CI 1 13 "not specified(B);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Cardiovascular phenotype(LB);not specified(LB);Limb-Girdle Muscular Dystrophy, Recessive(US);Hereditary myopathy with early respiratory failure(US);Distal myopathy Markesbery-Griggs type(US);Hypertrophic cardiomyopathy(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);not specified(LB);not specified(B)" 1/5/2018 -28.2 1.923076923 B 3 47294 Simple 72646891 A . CI 1 12 "not specified(B);not specified(B);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Cardiovascular phenotype(LB);not specified(B);Distal myopathy Markesbery-Griggs type(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Hypertrophic cardiomyopathy(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);Dilated Cardiomyopathy, Dominant(US)" 12/11/2017 -28.8 1.916666667 B 3 47297 Simple 56404770 G . CI 1 13 "not specified(B);not specified(B);not specified(B);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Cardiovascular phenotype(B);Limb-Girdle Muscular Dystrophy, Recessive(US);Hereditary myopathy with early respiratory failure(US);Hypertrophic cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Distal myopathy Markesbery-Griggs type(US);Myopathy, early-onset, with fatal cardiomyopathy(US);not specified(B)" 11/10/2017 -34.2 2.153846154 B 3 47299 Simple 56245285 C . CI 1 9 "not specified(LB);Dilated Cardiomyopathy, Dominant(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Hypertrophic cardiomyopathy(US);Distal myopathy Markesbery-Griggs type(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Hereditary myopathy with early respiratory failure(US);not specified(LB);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB)" 1/3/2018 -9.6 1.333333333 BLB 3 47302 Simple 55837610 G . CI 1 13 "not specified(LB);not provided(LB);not specified(B);Cardiovascular phenotype(US);not specified(LB);Dilated Cardiomyopathy, Dominant(US);Hypertrophic cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);Distal myopathy Markesbery-Griggs type(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);not specified(US)" 1/8/2018 -18.48 1.615384615 BLB 3 47308 Simple 56169243 G . CI 1 12 "not specified(B);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Cardiovascular phenotype(LB);not specified(B);Hereditary myopathy with early respiratory failure(US);Distal myopathy Markesbery-Griggs type(US);Hypertrophic cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);not specified(LB)" 1/11/2018 -24.6 2.083333333 BLB 3 47316 Simple 56293906 C . CI 1 11 "not specified(B);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(B);Hypertrophic cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Distal myopathy Markesbery-Griggs type(US);Cardiovascular phenotype(B)" 1/10/2018 -27.6 1.545454545 B 3 47317 Simple 142874389 T . CI 1 11 "not specified(B);not provided(LB);not specified(LB);Limb-Girdle Muscular Dystrophy, Recessive(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Hypertrophic cardiomyopathy(US);Distal myopathy Markesbery-Griggs type(US);Hereditary myopathy with early respiratory failure(US);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(LB)" 1/11/2018 -21.3 1.181818182 BLB 3 47320 Simple 182491843 C . CI 1 12 "not specified(B);not specified(B);not specified(LB);not specified(LB);Cardiovascular phenotype(LB);Hypertrophic cardiomyopathy(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Hereditary myopathy with early respiratory failure(US);Distal myopathy Markesbery-Griggs type(US);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B)" 11/13/2017 -25.5 1.416666667 BLB 3 47322 Simple 55762754 G . CI 1 11 "Cardiovascular phenotype(LB);not specified(B);Hereditary myopathy with early respiratory failure(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Distal myopathy Markesbery-Griggs type(US);Dilated Cardiomyopathy, Dominant(US);Hypertrophic cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(LB);not specified(B)" 1/5/2018 -23.4 1.454545455 BLB 3 47331 Simple 72646899 A . CI 1 10 "not specified(LB);not specified(LB);Limb-Girdle Muscular Dystrophy, Recessive(US);Hereditary myopathy with early respiratory failure(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Hypertrophic cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Distal myopathy Markesbery-Griggs type(US);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);not specified(LB)" 10/30/2017 -13.5 1 BLB 3 47335 Simple 368914555 A . CI 1 4 "not specified(US);not specified(B);not specified(LB);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B)" 3/6/2018 -14.91 1.5 BLB 3 47341 Simple 397517702 A . CI 1 4 "not specified(US);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(LB)" 12/18/2017 -14.64 1.25 BLB 3 47343 Simple 140350441 C . CI 1 11 "not specified(B);Dilated Cardiomyopathy, Dominant(US);Hypertrophic cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);Distal myopathy Markesbery-Griggs type(US);Cardiovascular phenotype(LB);not specified(B);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B)" 12/16/2017 -24 1.545454545 BLB 3 47350 Simple 55696153 G . CI 1 11 "not specified(B);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Cardiovascular phenotype(LB);not specified(LB);Distal myopathy Markesbery-Griggs type(US);Hereditary myopathy with early respiratory failure(US);Dilated Cardiomyopathy, Dominant(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Hypertrophic cardiomyopathy(US)" 1/3/2018 -18.9 2.181818182 BLB 3 47353 Simple 375398118 G . CI 1 5 "not specified(LB);not specified(US);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);not specified(LB);Cardiovascular phenotype(LB)" 12/18/2017 -10.77 2 BLB 3 47361 Simple 186681106 G . CI 1 10 "not specified(LB);not specified(LB);not specified(LB);Hereditary myopathy with early respiratory failure(US);Hypertrophic cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Distal myopathy Markesbery-Griggs type(US);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB)" 12/19/2017 -12.9 1.1 BLB 3 47384 Simple 199875474 A . CI 1 11 "not specified(B);not specified(B);Cardiovascular phenotype(LB);Limb-Girdle Muscular Dystrophy, Recessive(US);Dilated Cardiomyopathy, Dominant(US);Distal myopathy Markesbery-Griggs type(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);Hypertrophic cardiomyopathy(US);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B)" 12/19/2017 -24 1.818181818 BLB 3 47408 Simple 145373396 C . CI 1 5 "not specified(US);not specified(LB);not specified(LB);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Cardiovascular phenotype(LB)" 12/12/2017 -14.58 2 BLB 3 47412 Simple 201158906 T . CI 1 5 "not specified(LB);not specified(B);not specified(LB);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Cardiovascular phenotype(LB)" 12/5/2017 -20.4 1 BLB 3 47414 Simple 56264840 T . CI 1 13 "not specified(B);not provided(US);not provided(LB);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(B);Hypertrophic cardiomyopathy(US);Distal myopathy Markesbery-Griggs type(US);Dilated Cardiomyopathy, Dominant(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Hereditary myopathy with early respiratory failure(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Cardiovascular phenotype(B)" 1/10/2018 -31.71 1.692307692 B 3 47415 Simple 11896779 T . CI 1 10 "not specified(B);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Cardiovascular phenotype(B);Limb-Girdle Muscular Dystrophy, Recessive(US);Distal myopathy Markesbery-Griggs type(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Hypertrophic cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);Dilated Cardiomyopathy, Dominant(US)" 1/8/2018 -19.2 2 BLB 3 47417 Simple 56345408 T . CI 1 12 "not specified(B);not specified(B);not specified(B);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Cardiovascular phenotype(LB);Limb-Girdle Muscular Dystrophy, Recessive(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Hypertrophic cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);Distal myopathy Markesbery-Griggs type(US);Dilated Cardiomyopathy, Dominant(US)" 1/10/2018 -25.2 2.416666667 BLB 3 47431 Simple 397517725 T . CI 1 11 "not specified(LB);not provided(US);Cardiovascular phenotype(US);Hypertrophic cardiomyopathy(US);Distal myopathy Markesbery-Griggs type(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);Dilated Cardiomyopathy, Dominant(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Dilated cardiomyopathy 1G(US);Limb-girdle muscular dystrophy, type 2J(US);not specified(LB)" 6/5/2017 -8.52 1.454545455 BLB 3 47446 Simple 202040332 C . CI 1 4 "not specified(US);not specified(B);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B)" 12/5/2017 -17.58 2 BLB 3 47456 Simple 201290358 T . CI 1 12 "not specified(B);not provided(US);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(B);Hypertrophic cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Hereditary myopathy with early respiratory failure(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Distal myopathy Markesbery-Griggs type(US);Dilated Cardiomyopathy, Dominant(US);not specified(B)" 6/3/2017 -31.41 1.25 B 3 47464 Simple 72648227 T . CI 1 7 "not specified(US);not provided(LB);not specified(LB);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);not specified(US);not specified(LB);Cardiovascular phenotype(LB)" 10/28/2017 -14.31 1.714285714 BLB 3 47469 Simple 141624266 T . CI 1 12 "not specified(B);not provided(US);not provided(LB);not specified(B);not specified(B);Hypertrophic cardiomyopathy(LB);Hereditary myopathy with early respiratory failure(LB);Myopathy, early-onset, with fatal cardiomyopathy(LB);Dilated Cardiomyopathy, Dominant(LB);Limb-Girdle Muscular Dystrophy, Recessive(LB);Distal myopathy Markesbery-Griggs type(LB);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B)" 12/27/2017 -41.91 1.75 B 3 47477 Simple 146181116 A . CI 1 13 "Cardiovascular phenotype(LB);not specified(LB);Dilated Cardiomyopathy, Dominant(US);Hypertrophic cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Hereditary myopathy with early respiratory failure(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Distal myopathy Markesbery-Griggs type(US);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(LB);not specified(LB);not specified(B);not specified(LB)" 12/26/2017 -25.8 1.307692308 BLB 3 47484 Simple 115070904 A . CI 1 11 "not specified(B);not specified(B);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Cardiovascular phenotype(B);Distal myopathy Markesbery-Griggs type(US);Hereditary myopathy with early respiratory failure(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Dilated Cardiomyopathy, Dominant(US);Hypertrophic cardiomyopathy(US)" 1/5/2018 -24 2.090909091 BLB 3 47497 Simple 149567378 T . CI 1 13 "not specified(B);not specified(B);not provided(US);not provided(LB);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Limb-Girdle Muscular Dystrophy, Recessive(LB);Myopathy, early-onset, with fatal cardiomyopathy(LB);Dilated Cardiomyopathy, Dominant(LB);Hereditary myopathy with early respiratory failure(LB);Hypertrophic cardiomyopathy(LB);Distal myopathy Markesbery-Griggs type(LB);Cardiovascular phenotype(B)" 1/10/2018 -47.31 1.769230769 B 3 47501 Simple 150430592 C . CI 1 13 "not specified(B);not provided(US);not provided(LB);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(B);Limb-Girdle Muscular Dystrophy, Recessive(US);Hereditary myopathy with early respiratory failure(US);Distal myopathy Markesbery-Griggs type(US);Hypertrophic cardiomyopathy(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Cardiovascular phenotype(B)" 1/10/2018 -31.71 1.692307692 B 3 47512 Simple 182549226 A . CI 1 11 "not specified(US);not specified(US);not specified(LB);Myopathy, early-onset, with fatal cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);Distal myopathy Markesbery-Griggs type(US);Hypertrophic cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);not specified(US)" 12/19/2017 -8.64 1 BLB 3 47514 Simple 148617456 T . CI 1 7 "not specified(B);not provided(US);not provided(LB);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(B);Cardiovascular phenotype(B)" 1/10/2018 -29.31 2.428571429 B 3 47520 Simple 72648247 A . CI 1 12 "not specified(LB);not provided(LB);not specified(LB);Cardiovascular phenotype(US);not specified(LB);Hypertrophic cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Distal myopathy Markesbery-Griggs type(US);Hereditary myopathy with early respiratory failure(US);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B)" 1/11/2018 -18.18 1.666666667 BLB 3 47529 Simple 11694623 A . CI 1 10 "not specified(B);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Cardiovascular phenotype(B);Hereditary myopathy with early respiratory failure(US);Hypertrophic cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Distal myopathy Markesbery-Griggs type(US);Myopathy, early-onset, with fatal cardiomyopathy(US)" 8/8/2017 -18 2.2 BLB 3 47536 Simple 200173934 A . CI 1 12 "not specified(LB);not specified(B);not specified(LB);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Distal myopathy Markesbery-Griggs type(US);Hereditary myopathy with early respiratory failure(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Hypertrophic cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);not specified(B);Cardiovascular phenotype(LB)" 11/28/2017 -24.6 1.75 BLB 3 47541 Simple 376539252 A . CI 1 11 "not specified(LB);not specified(B);Myopathy, early-onset, with fatal cardiomyopathy(US);Distal myopathy Markesbery-Griggs type(US);Hypertrophic cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Hereditary myopathy with early respiratory failure(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);not specified(LB);not specified(US)" 11/14/2017 -15.3 1.090909091 BLB 3 47544 Simple 72648255 A . CI 1 12 "not specified(LB);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(LB);Myopathy, early-onset, with fatal cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);Dilated Cardiomyopathy, Dominant(US);Hypertrophic cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Distal myopathy Markesbery-Griggs type(US);not specified(LB);Cardiovascular phenotype(LB)" 1/11/2018 -22.8 1.5 BLB 3 47545 Simple 72648256 T . CI 1 6 "not specified(LB);not specified(B);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Cardiovascular phenotype(LB);not specified(LB)" 12/28/2017 -23.7 2 BLB 3 47546 Simple 116567963 T . CI 1 11 "not specified(B);not specified(B);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Hereditary myopathy with early respiratory failure(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Hypertrophic cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Distal myopathy Markesbery-Griggs type(US);Dilated Cardiomyopathy, Dominant(US);Cardiovascular phenotype(B)" 1/9/2018 -24 2.090909091 BLB 3 47548 Simple 2288326 T . CI 1 10 "not specified(LB);not provided(US);Dilated Cardiomyopathy, Dominant(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Hereditary myopathy with early respiratory failure(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Distal myopathy Markesbery-Griggs type(US);Hypertrophic cardiomyopathy(US);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);not specified(LB)" 12/6/2017 -9.51 1.6 BLB 3 47552 Simple 142525903 A . CI 1 6 "not specified(US);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);not specified(US);Cardiovascular phenotype(B);not specified(B);not provided(LB)" 1/3/2018 -17.67 1.333333333 BLB 3 47554 Simple 72648258 A . CI 1 10 "not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Cardiovascular phenotype(LB);Limb-Girdle Muscular Dystrophy, Recessive(US);Distal myopathy Markesbery-Griggs type(US);Hereditary myopathy with early respiratory failure(US);Hypertrophic cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Myopathy, early-onset, with fatal cardiomyopathy(US);not specified(B)" 1/8/2018 -16.2 2.2 BLB 3 47555 Simple 191484894 A . CI 1 7 "not specified(B);not provided(US);not provided(LB);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(B);Cardiovascular phenotype(B)" 1/10/2018 -29.31 2.428571429 B 3 47559 Simple 62621206 G . CI 1 11 "not specified(B);not specified(B);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Cardiovascular phenotype(B);Distal myopathy Markesbery-Griggs type(US);Dilated Cardiomyopathy, Dominant(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Hypertrophic cardiomyopathy(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US)" 1/9/2018 -22.8 2.272727273 BLB 3 47561 Simple 72648263 T . CI 1 12 "not specified(US);not provided(LB);not specified(LB);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);not specified(US);Hereditary myopathy with early respiratory failure(US);Distal myopathy Markesbery-Griggs type(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Hypertrophic cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Dilated Cardiomyopathy, Dominant(US);Cardiovascular phenotype(LB)" 2/22/2018 -13.44 1.166666667 BLB 3 47562 Simple 200648462 T . CI 1 5 "not specified(LB);not specified(LB);Cardiovascular phenotype(US);not specified(LB);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB)" 12/22/2017 -10.41 2.4 BLB 3 47567 Simple 376532382 A . CI 1 11 "not specified(LB);not specified(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Dilated Cardiomyopathy, Dominant(US);Hypertrophic cardiomyopathy(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);Distal myopathy Markesbery-Griggs type(US);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);not specified(LB);Cardiovascular phenotype(LB)" 11/17/2017 -13.47 1.090909091 BLB 3 47568 Simple 369626133 C . CI 1 11 "not specified(LB);not specified(US);Hypertrophic cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Distal myopathy Markesbery-Griggs type(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Hereditary myopathy with early respiratory failure(US);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);not specified(LB);Cardiovascular phenotype(LB)" 11/17/2017 -13.47 1.090909091 BLB 3 47577 Simple 138846756 T . CI 1 5 "not specified(LB);not specified(LB);Cardiovascular phenotype(US);not specified(LB);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB)" 12/22/2017 -10.41 2.4 BLB 3 47588 Simple 55704830 T . CI 1 13 "not specified(LB);not provided(LB);not specified(LB);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Inborn genetic diseases(US);not specified(LB);Myopathy, early-onset, with fatal cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Hereditary myopathy with early respiratory failure(US);Hypertrophic cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Distal myopathy Markesbery-Griggs type(US);not provided(LB)" 1/8/2018 -21.54 1.307692308 BLB 3 47589 Simple 55704830 G . CI 1 12 "not specified(B);not provided(LB);not specified(LB);not specified(LB);Cardiovascular phenotype(US);Distal myopathy Markesbery-Griggs type(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Hereditary myopathy with early respiratory failure(US);Hypertrophic cardiomyopathy(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B)" 11/1/2017 -20.91 1.583333333 BLB 3 47596 Simple 72648272 A . CI 1 14 "not specified(B);not provided(LB);not specified(B);not specified(US);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(LB);Hereditary myopathy with early respiratory failure(US);Hypertrophic cardiomyopathy(US);Distal myopathy Markesbery-Griggs type(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Dilated Cardiomyopathy, Dominant(US);Myopathy, early-onset, with fatal cardiomyopathy(US);not specified(LB);Cardiovascular phenotype(B)" 1/5/2018 -32.04 1.5 B 3 47598 Simple 72648273 C . CI 1 14 "not specified(LB);not provided(LB);not provided(LB);not specified(LB);Cardiovascular phenotype(LB);not specified(LB);Hypertrophic cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);Dilated Cardiomyopathy, Dominant(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Distal myopathy Markesbery-Griggs type(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);not provided(LB)" 2/6/2018 -22.8 1.5 BLB 3 47603 Simple 138968178 A . CI 1 11 "not specified(B);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(B);Limb-Girdle Muscular Dystrophy, Recessive(US);Distal myopathy Markesbery-Griggs type(US);Hereditary myopathy with early respiratory failure(US);Hypertrophic cardiomyopathy(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Cardiovascular phenotype(B)" 1/10/2018 -27.6 1.545454545 B 3 47604 Simple 55977045 C . CI 1 11 "not specified(B);not specified(B);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Cardiovascular phenotype(B);Dilated Cardiomyopathy, Dominant(US);Hypertrophic cardiomyopathy(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Distal myopathy Markesbery-Griggs type(US);Hereditary myopathy with early respiratory failure(US);Limb-Girdle Muscular Dystrophy, Recessive(US)" 8/7/2017 -22.2 2.363636364 BLB 3 47620 Simple 397517781 T . CI 1 9 "not specified(B);not specified(B);Hereditary myopathy with early respiratory failure(US);Hypertrophic cardiomyopathy(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Distal myopathy Markesbery-Griggs type(US);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B)" 12/15/2017 -19.2 1 BLB 3 47622 Simple 56061641 G . CI 1 5 "not specified(B);not specified(LB);Cardiovascular phenotype(B);not specified(LB);Dilated cardiomyopathy 1G(US);Limb-girdle muscular dystrophy, type 2J(US)" 12/27/2017 -15.6 1.8 BLB 3 47623 Simple 56026369 T . CI 1 11 "not specified(B);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(B);Dilated Cardiomyopathy, Dominant(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);Hypertrophic cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Distal myopathy Markesbery-Griggs type(US);Cardiovascular phenotype(B)" 1/10/2018 -27.6 1.545454545 B 3 47626 Simple 397517782 AA . CI 1 10 "not specified(B);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Limb-Girdle Muscular Dystrophy, Recessive(US);Dilated Cardiomyopathy, Dominant(US);Distal myopathy Markesbery-Griggs type(US);Hereditary myopathy with early respiratory failure(US);Hypertrophic cardiomyopathy(US);Myopathy, early-onset, with fatal cardiomyopathy(US);not specified(LB)" 1/8/2018 -20.4 1.3 BLB 3 47633 Simple 56273463 A . CI 1 12 "Cardiovascular phenotype(LB);not specified(B);Hypertrophic cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Hereditary myopathy with early respiratory failure(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Distal myopathy Markesbery-Griggs type(US);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(LB);not provided(LB);not specified(B)" 1/9/2018 -24 1.916666667 BLB 3 47636 Simple 72647894 T . CI 1 13 "not specified(B);not provided(LB);not specified(B);not specified(US);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Cardiovascular phenotype(US);not specified(LB);Hypertrophic cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Dilated Cardiomyopathy, Dominant(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);Distal myopathy Markesbery-Griggs type(US)" 1/5/2018 -23.82 1.846153846 BLB 3 47638 Simple 55802460 C . CI 1 11 "not specified(B);Hereditary myopathy with early respiratory failure(US);Distal myopathy Markesbery-Griggs type(US);Hypertrophic cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Cardiovascular phenotype(B);not specified(B);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B)" 1/10/2018 -27.6 1.545454545 B 3 47641 Simple 55886356 G . CI 1 12 "Cardiovascular phenotype(B);not specified(B);Limb-Girdle Muscular Dystrophy, Recessive(US);Dilated Cardiomyopathy, Dominant(US);Distal myopathy Markesbery-Griggs type(US);Hereditary myopathy with early respiratory failure(US);Hypertrophic cardiomyopathy(US);Myopathy, early-onset, with fatal cardiomyopathy(US);not specified(B);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(B)" 1/11/2018 -28.8 2.166666667 B 3 47643 Simple 55669553 T . CI 1 7 "not specified(B);not provided(US);not provided(LB);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(B);Cardiovascular phenotype(B)" 1/10/2018 -29.91 2.285714286 B 3 47652 Simple 56347248 C . CI 1 7 "not specified(B);not provided(US);not provided(LB);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(B);Cardiovascular phenotype(B)" 1/10/2018 -29.91 2.285714286 B 3 47654 Simple 372716177 T . CI 1 3 "not specified(US);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(LB)" 1/3/2018 -9.15 2 BLB 3 47662 Simple 55945684 G . CI 1 12 "not specified(US);not specified(LB);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);Cardiovascular phenotype(US);not specified(US);Distal myopathy Markesbery-Griggs type(US);Hereditary myopathy with early respiratory failure(US);Dilated Cardiomyopathy, Dominant(US);Hypertrophic cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Myopathy, early-onset, with fatal cardiomyopathy(US);not specified(US)" 12/21/2017 -8.85 1.333333333 BLB 3 47665 Simple 199714102 A . CI 1 12 "Cardiovascular phenotype(LB);not specified(LB);Dilated Cardiomyopathy, Dominant(US);Distal myopathy Markesbery-Griggs type(US);Hypertrophic cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(B);not specified(LB);not specified(B)" 12/12/2017 -25.5 1.5 BLB 3 47667 Simple 185683410 G . CI 1 7 "not specified(US);not specified(US);not provided(LB);not specified(B);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);Cardiovascular phenotype(US);not specified(US)" 1/8/2018 -12.15 1.857142857 BLB 3 47669 Simple 190565627 T . CI 1 11 "not specified(LB);not specified(LB);not specified(LB);Dilated Cardiomyopathy, Dominant(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Hypertrophic cardiomyopathy(US);Distal myopathy Markesbery-Griggs type(US);Hereditary myopathy with early respiratory failure(US);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Cardiovascular phenotype(LB)" 10/23/2017 -19.8 0.818181818 BLB 3 47674 Simple 55866005 G . CI 1 8 "not specified(B);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(B);not specified(LB);not provided(US);Cardiovascular phenotype(B);not specified(B)" 12/20/2017 -33.21 2.625 B 3 47683 Simple 200378865 A . CI 1 11 "not specified(LB);not specified(LB);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(B);Hypertrophic cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Hereditary myopathy with early respiratory failure(US);Dilated Cardiomyopathy, Dominant(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Distal myopathy Markesbery-Griggs type(US);Cardiovascular phenotype(LB)" 12/22/2017 -21.9 0.909090909 BLB 3 47685 Simple 371075036 T . CI 1 11 "not specified(B);not specified(LB);Distal myopathy Markesbery-Griggs type(US);Dilated Cardiomyopathy, Dominant(US);Hypertrophic cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(LB);Cardiovascular phenotype(LB)" 10/23/2017 -22.2 1.090909091 BLB 3 47687 Simple 55938627 T . CI 1 12 "not specified(LB);Distal myopathy Markesbery-Griggs type(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Hereditary myopathy with early respiratory failure(US);Hypertrophic cardiomyopathy(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(LB);not specified(B);not specified(B);Cardiovascular phenotype(B)" 1/11/2018 -28.5 1.416666667 B 3 47691 Simple 55806007 T . CI 1 10 "not specified(B);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Cardiovascular phenotype(LB);Dilated Cardiomyopathy, Dominant(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Hypertrophic cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);Distal myopathy Markesbery-Griggs type(US);Limb-Girdle Muscular Dystrophy, Recessive(US)" 1/9/2018 -16.2 2.2 BLB 3 47708 Simple 55838839 T . CI 1 13 "not specified(LB);not specified(B);not specified(LB);Limb-Girdle Muscular Dystrophy, Recessive(US);Distal myopathy Markesbery-Griggs type(US);Hereditary myopathy with early respiratory failure(US);Hypertrophic cardiomyopathy(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(LB);not specified(B);Cardiovascular phenotype(B)" 1/3/2018 -31.5 1.538461538 B 3 47709 Simple 55725279 A . CI 1 14 "not specified(US);not provided(LB);not specified(LB);not specified(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Hypertrophic cardiomyopathy(US);Distal myopathy Markesbery-Griggs type(US);Dilated Cardiomyopathy, Dominant(US);Hereditary myopathy with early respiratory failure(US);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);not specified(US);not specified(LB);Cardiovascular phenotype(B)" 1/3/2018 -19.68 1.357142857 BLB 3 47710 Simple 55880440 G . CI 1 11 "Cardiovascular phenotype(B);Hypertrophic cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Distal myopathy Markesbery-Griggs type(US);Dilated Cardiomyopathy, Dominant(US);Hereditary myopathy with early respiratory failure(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(B);not specified(B);not specified(B)" 8/4/2017 -22.8 2.272727273 BLB 3 47711 Simple 56324602 T . CI 1 11 "not specified(B);Hereditary myopathy with early respiratory failure(US);Dilated Cardiomyopathy, Dominant(US);Hypertrophic cardiomyopathy(US);Distal myopathy Markesbery-Griggs type(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Cardiovascular phenotype(B);not specified(B);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B)" 1/10/2018 -28.2 1.454545455 B 3 47716 Simple 183923129 T . CI 1 11 "Dilated Cardiomyopathy, Dominant(US);Hereditary myopathy with early respiratory failure(US);Hypertrophic cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Distal myopathy Markesbery-Griggs type(US);not specified(LB);Cardiovascular phenotype(LB);not specified(LB);not specified(B);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB)" 12/26/2017 -17.7 1.363636364 BLB 3 47720 Simple 72629793 G . CI 1 6 "not specified(B);not provided(LB);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Cardiovascular phenotype(US);not specified(LB)" 12/12/2017 -23.31 1.666666667 BLB 3 47771 Simple 142132973 G . CI 1 4 not specified(US);not provided(US);not specified(B);not specified(B) 2/7/2017 -11.25 2.75 BLB 3 47792 Simple 151253841 A . CI 1 9 "not specified(B);not provided(LB);not specified(US);Distal myopathy Markesbery-Griggs type(LB);Hypertrophic cardiomyopathy(LB);Hereditary myopathy with early respiratory failure(LB);Limb-Girdle Muscular Dystrophy, Recessive(LB);Myopathy, early-onset, with fatal cardiomyopathy(LB);Dilated Cardiomyopathy, Dominant(LB)" 6/14/2016 -25.14 1.777777778 BLB 3 47809 Simple 397517825 T . CI 1 4 "not specified(US);not specified(US);not specified(LB);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B)" 11/6/2017 -9.51 1.5 BLB 3 47843 Simple 200204761 G . CI 1 4 "not specified(US);not provided(US);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B)" 1/11/2018 -12.42 2.25 BLB 3 47864 Simple 370898981 G . CI 1 4 "Nonsyndromic hearing loss and deafness(P);not provided(P);Nonsyndromic Hearing Loss, Dominant(LB);Nonsyndromic Hearing Loss, Recessive(LP)" 4/11/2017 12 1 PLP 3 47910 Simple 201171783 A . CI 1 6 "not specified(LB);not specified(B);Hypertrophic cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Dilated cardiomyopathy 1CC(B);Familial hypertrophic cardiomyopathy 20(B);Cardiovascular phenotype(LB)" 12/5/2017 -16.8 1.5 BLB 3 47915 Simple 201763096 C . CI 1 8 "Dilated cardiomyopathy 1CC(B);Familial hypertrophic cardiomyopathy 20(B);not specified(B);Hypertrophic cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);not specified(B);Cardiovascular phenotype(B);not specified(B);not specified(B)" 12/27/2017 -34.8 1.25 B 3 47922 Simple 34589386 A . CI 1 3 "not specified(B);Nonsyndromic Hearing Loss, Recessive(US);not specified(B)" 12/28/2017 -9.3 2.333333333 BLB 3 47933 Simple 118174674 T . CI 1 3 "not specified(B);Nonsyndromic Hearing Loss, Recessive(US);not specified(B)" 11/29/2017 -9.3 2.333333333 BLB 3 47937 Simple 7244681 A . CI 1 3 "not specified(B);Nonsyndromic Hearing Loss, Recessive(US);not specified(B)" 2/16/2018 -9.3 2.333333333 BLB 3 47941 Simple 12606417 C . CI 1 3 "not specified(B);Nonsyndromic Hearing Loss, Recessive(US);not specified(B)" 5/9/2017 -9.3 2.666666667 BLB 3 47965 Simple 147204964 A . CI 1 4 not specified(LB);not specified(US);not provided(B);Legius syndrome(LB) 1/8/2018 -11.1 1.75 BLB 3 47967 Simple 200157475 T . CI 1 3 not specified(US);not specified(LB);Legius syndrome(B) 1/5/2018 -9.18 1.666666667 BLB 3 47996 Simple 111033279 G . CI 1 5 "not specified(B);not specified(B);Retinitis pigmentosa-deafness syndrome(US);Nonsyndromic Hearing Loss, Recessive(US);not specified(B)" 6/14/2016 -14.4 2.6 BLB 3 48015 Simple 145013633 T . CI 1 5 "not specified(B);not specified(LB);Nonsyndromic Hearing Loss, Recessive(US);Retinitis pigmentosa-deafness syndrome(US);not specified(LB)" 10/31/2017 -12 1 BLB 3 48023 Simple 77137413 T . CI 1 5 "not specified(B);not specified(LB);Nonsyndromic Hearing Loss, Recessive(US);Retinitis pigmentosa-deafness syndrome(US);not specified(LB)" 9/27/2017 -12.6 0.8 BLB 3 48043 Simple 149339264 T . CI 1 18 "not specified(B);not specified(B);Charcot-Marie-Tooth disease, type 2(B);Cardiovascular phenotype(LB);not specified(LB);Dilated Cardiomyopathy, Dominant(LB);Familial partial lipodystrophy(LB);Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules(LB);Emery-Dreifuss muscular dystrophy(LB);Hutchinson-Gilford syndrome(LB);Congenital muscular dystrophy, LMNA-related(LB);Hutchinson-Gilford syndrome(LB);Mandibuloacral dysplasia(LB);Lethal tight skin contracture syndrome(LB);Hutchinson-Gilford syndrome(LB);Limb-Girdle Muscular Dystrophy, Recessive(LB);Charcot-Marie-Tooth, Type 2(LB);not specified(US)" 1/22/2018 -55.38 1.666666667 B 3 48047 Simple 370219874 T . CI 1 4 not specified(LB);not specified(US);not specified(B);Cardiovascular phenotype(LB) 9/29/2016 -11.1 1.75 BLB 3 48052 Simple 60662302 A . CI 1 6 "Insulin resistance syndrome, type A(US);not specified(US);not specified(LB);Charcot-Marie-Tooth disease, type 2(LB);Cardiovascular phenotype(LB);not specified(LB)" 12/21/2017 -11.01 2 BLB 3 48054 Simple 143189394 T . CI 1 5 "not specified(B);Charcot-Marie-Tooth disease, type 2(B);not specified(B);not specified(B);not specified(US)" 12/14/2017 -21.78 2.4 BLB 3 48082 Simple 148557956 A . CI 1 5 "not specified(LB);not specified(B);not specified(US);Charcot-Marie-Tooth disease, type 2(LB);Cardiovascular phenotype(LB)" 9/13/2017 -12.6 2.6 BLB 3 48092 Simple 150924946 G . CI 1 5 "Charcot-Marie-Tooth disease, type 2(LB);not specified(LB);not specified(US);Cardiovascular phenotype(LB);not specified(US)" 11/17/2017 -9.45 1.2 BLB 3 48116 Simple 74846539 A . CI 1 6 "not specified(US);Delta-sarcoglycanopathy(LB);Dilated Cardiomyopathy, Dominant(LB);Limb-Girdle Muscular Dystrophy, Recessive(LB);not specified(LB);Limb-girdle muscular dystrophy, type 2F(LB)" 11/27/2017 -14.67 1.333333333 BLB 3 48168 Simple 111033396 C . CI 1 4 "not specified(B);Nonsyndromic Hearing Loss, Recessive(US);not provided(LB);not specified(LB)" 2/2/2017 -11.7 1.25 BLB 3 48219 Simple 61740776 C . CI 1 3 "not specified(B);Nonsyndromic Hearing Loss, Recessive(US);not specified(B)" 3/12/2018 -9.3 2.333333333 BLB 3 48257 Simple 142333075 A . CI 1 4 "not specified(B);not specified(B);Nonsyndromic Hearing Loss, Recessive(US);not specified(LB)" 1/29/2018 -11.7 2.25 BLB 3 48269 Simple 141235641 T . CI 1 4 "not specified(B);not specified(US);Nonsyndromic Hearing Loss, Recessive(US);not specified(LB)" 2/27/2018 -9.6 0.5 BLB 3 48290 Simple 45522138 A . CI 1 11 "Cardiovascular phenotype(LB);Long QT syndrome(US);Paroxysmal familial ventricular fibrillation(US);Dilated Cardiomyopathy, Dominant(US);Sick sinus syndrome(US);Brugada syndrome(US);Progressive familial heart block(US);Romano-Ward syndrome(US);not provided(B);not specified(B);Brugada syndrome(B)" 1/8/2018 -20.1 1.454545455 BLB 3 48300 Simple 9858585 T . CI 1 10 "not specified(B);Brugada syndrome(B);Cardiovascular phenotype(B);Romano-Ward syndrome(US);Dilated Cardiomyopathy, Dominant(US);Long QT syndrome(US);Brugada syndrome(US);Sick sinus syndrome(US);Paroxysmal familial ventricular fibrillation(US);Progressive familial heart block(US)" 1/22/2018 -17.1 1.4 BLB 3 48386 Simple 55961436 T . CI 1 3 not specified(B);not specified(B);not specified(B) 4/17/2015 -12.6 4.333333333 BLB 3 48395 Simple 111033518 T . CI 1 4 "not specified(US);Usher syndrome, type 2A(P);not specified(US);not provided(P)" 8/15/2016 10.38 3.5 PLP 3 48464 Simple 111033269 T . CI 1 3 not specified(B);not specified(B);not specified(LB) 1/18/2018 -12 2.333333333 BLB 3 48487 Simple 111033282 T . CI 1 4 not specified(B);not specified(B);not specified(US);not specified(B) 10/31/2017 -14.04 3.5 BLB 3 48503 Simple 397518013 - . CI 1 4 "Usher syndrome, type 2A(P);USH2A-Related Disorders(US);Usher syndrome, type 2A(LP);Retinitis pigmentosa 39(LP)" 8/18/2016 8.7 2.5 PLP 3 48516 Simple 111632670 A . CI 1 4 "not specified(B);not specified(B);Retinitis Pigmentosa, Recessive(US);Retinitis pigmentosa-deafness syndrome(US)" 6/14/2016 -8.4 2.75 BLB 3 48521 Simple 111033333 A . CI 1 4 not specified(B);not specified(B);not specified(B);Inborn genetic diseases(US) 10/31/2017 -11.64 5.25 BLB 3 48547 Simple 41303287 C . CI 1 5 not specified(B);not specified(US);not specified(US);not specified(LB);not specified(LB) 11/16/2017 -9.54 2.2 BLB 3 48555 Simple 114402911 A . CI 1 3 not specified(B);not specified(B);not specified(B) 4/10/2017 -15 2.666666667 BLB 3 48577 Simple 111033394 C . CI 1 3 not specified(B);not specified(B);not specified(LB) 11/14/2017 -10.8 3 BLB 3 48752 Simple 77464996 A . CI 1 3 not specified(LB);not specified(US);Tuberous sclerosis 1(B) 12/26/2017 -9.3 0.666666667 BLB 3 48782 Simple 118203530 T . CI 1 4 Tuberous sclerosis 1(B);Focal cortical dysplasia type II(US);Tuberous sclerosis syndrome(US);not specified(LB) 1/3/2018 -9.6 0.75 BLB 3 48931 Simple 118203670 C . CI 1 6 Hereditary cancer-predisposing syndrome(B);not specified(B);Tuberous sclerosis 1(B);Tuberous sclerosis syndrome(LB);Focal cortical dysplasia type II(LB);not specified(US) 1/10/2018 -22.47 1.5 BLB 3 48984 Simple 118203720 A . CI 1 8 not specified(B);Hereditary cancer-predisposing syndrome(LB);not specified(US);not specified(B);Tuberous sclerosis 1(B);not specified(B);Focal cortical dysplasia type II(LB);Tuberous sclerosis syndrome(LB) 1/23/2018 -27.24 2.5 B 3 49015 Simple 118203745 A . CI 1 5 not specified(LB);Tuberous sclerosis 1(B);Tuberous sclerosis 1(US);not specified(US);Hereditary cancer-predisposing syndrome(US) 12/26/2017 -9.87 0.8 BLB 3 49053 Simple 118203395 T . CI 1 4 Hereditary cancer-predisposing syndrome(LB);Tuberous sclerosis 1(B);not specified(US);not specified(LB) 1/11/2018 -12.27 0.75 BLB 3 49180 Simple 45492397 A . CI 1 4 not specified(B);Tuberous sclerosis 2(B);not specified(US);Hereditary cancer-predisposing syndrome(LB) 12/18/2017 -13.5 1.5 BLB 3 49194 Simple 137854215 G . CI 1 3 not specified(LB);Tuberous sclerosis 2(B);Hereditary cancer-predisposing syndrome(US) 2/28/2018 -9.3 0.333333333 BLB 3 49258 Simple 45505895 A . CI 1 5 not specified(LB);not specified(LB);Tuberous sclerosis 2(B);Tuberous sclerosis syndrome(LB);Hereditary cancer-predisposing syndrome(LB) 12/29/2017 -16.5 1.8 BLB 3 49266 Simple 45517301 A . CI 1 3 not specified(B);Tuberous sclerosis 2(B);not specified(US) 12/27/2017 -10.5 1.666666667 BLB 3 49331 Simple 35282988 A . CI 1 6 not specified(B);Hereditary cancer-predisposing syndrome(LB);Tuberous sclerosis 2(B);not specified(US);Tuberous sclerosis 2(B);not specified(LB) 12/28/2017 -21.87 1.833333333 BLB 3 49442 Simple 45445593 A . CI 1 3 not specified(US);Tuberous sclerosis 2(B);not specified(LB) 12/22/2017 -9.24 1 BLB 3 49548 Simple 45517307 T . CI 1 4 not specified(B);Tuberous sclerosis 2(B);Tuberous sclerosis syndrome(US);Hereditary cancer-predisposing syndrome(LB) 12/27/2017 -12.9 2 BLB 3 49556 Simple 45517328 T . CI 1 5 not specified(LB);not specified(US);Tuberous sclerosis syndrome(US);Tuberous sclerosis 2(B);Hereditary cancer-predisposing syndrome(LB) 1/24/2018 -12.6 0.8 BLB 3 49616 Simple 45517208 T . CI 1 9 not specified(B);Hereditary cancer-predisposing syndrome(LB);not specified(LB);not specified(US);Tuberous sclerosis 2(B);Tuberous sclerosis syndrome(LB);Tuberous sclerosis 2(B);not provided(B);not specified(B) 1/23/2018 -35.04 2.111111111 B 3 49658 Simple 45517204 A . CI 1 5 Tuberous sclerosis 2(B);not specified(LB);Tuberous sclerosis syndrome(US);not specified(B);not provided(LB) 1/12/2018 -17.1 1.2 BLB 3 49681 Simple 45457694 G . CI 1 3 Tuberous sclerosis 2(B);Hereditary cancer-predisposing syndrome(LB);not specified(LB) 1/10/2018 -12 0.333333333 BLB 3 49764 Simple 137854421 G . CI 1 3 not specified(LB);Tuberous sclerosis 2(B);Hereditary cancer-predisposing syndrome(US) 1/5/2018 -9.3 0.333333333 BLB 3 49912 Simple 45517391 T . CI 1 4 not specified(B);Tuberous sclerosis 2(B);Tuberous sclerosis syndrome(LB);Hereditary cancer-predisposing syndrome(LB) 12/15/2017 -18 0.75 BLB 3 49941 Simple 45506695 A . CI 1 3 not specified(LB);Tuberous sclerosis 2(B);Hereditary cancer-predisposing syndrome(US) 1/4/2018 -9.27 1 BLB 3 49972 Simple 137854152 T . CI 1 4 Tuberous sclerosis syndrome(US);not specified(LB);Tuberous sclerosis 2(B);Hereditary cancer-predisposing syndrome(LB) 1/25/2018 -12.3 0.5 BLB 3 50090 Simple 45448801 T . CI 1 3 Tuberous sclerosis 2(B);Hereditary cancer-predisposing syndrome(US);not specified(LB) 2/26/2018 -9.3 0 BLB 3 50170 Simple 45517100 A . CI 1 4 Hereditary cancer-predisposing syndrome(LB);not specified(US);Tuberous sclerosis 2(B);Tuberous sclerosis syndrome(LB) 12/13/2017 -11.64 1.75 BLB 3 50317 Simple 118161496 C . CI 1 3 not provided(P);Inborn genetic diseases(P);not provided(US) 8/14/2017 10.5 1.333333333 PLP 3 51047 Simple 56309455 T . CI 1 7 Hereditary breast and ovarian cancer syndrome(B);not specified(LB);Hereditary breast and ovarian cancer syndrome(LB);not specified(LB);not specified(LB);Hereditary cancer-predisposing syndrome(LB);Hereditary cancer-predisposing syndrome(B) 2/5/2018 -23.7 2 BLB 3 51056 Simple 80358402 T . CI 1 6 Hereditary cancer-predisposing syndrome(LB);not specified(US);not specified(LB);Hereditary cancer-predisposing syndrome(LB);Hereditary breast and ovarian cancer syndrome(LB);not specified(LB) 11/16/2017 -14.94 1.166666667 BLB 3 51060 Simple 55800493 G . CI 1 8 "Hereditary cancer-predisposing syndrome(LB);not specified(LB);not specified(LB);not specified(LB);not specified(LB);not provided(LB);Breast-ovarian cancer, familial 2(LB);Hereditary breast and ovarian cancer syndrome(B)" 2/23/2018 -25.2 1.5 BLB 3 51067 Simple 80358409 T . CI 1 3 Hereditary breast and ovarian cancer syndrome(LB);Hereditary cancer-predisposing syndrome(LB);not specified(LB) 10/2/2017 -8.7 0.666666667 BLB 3 51160 Simple 80358448 T . CI 1 5 "Hereditary cancer-predisposing syndrome(LB);not specified(LB);Breast-ovarian cancer, familial 2(US);not provided(US);Hereditary breast and ovarian cancer syndrome(LB)" 11/23/2017 -9.27 1.2 BLB 3 51185 Simple 56091799 G . CI 1 7 Hereditary breast and ovarian cancer syndrome(B);Hereditary cancer-predisposing syndrome(B);not specified(LB);not specified(US);not specified(US);not specified(LB);Hereditary cancer-predisposing syndrome(LB) 1/16/2018 -19.95 1.857142857 BLB 3 51192 Simple 56328701 C . CI 1 16 "not specified(B);not specified(B);not specified(LB);Breast-ovarian cancer, familial 2(B);Fanconi anemia(LB);Hereditary breast and ovarian cancer syndrome(LB);not specified(US);not specified(B);not specified(B);not provided(LB);Hereditary cancer-predisposing syndrome(LB);Hereditary breast and ovarian cancer syndrome(B);Breast-ovarian cancer, familial 2(LB);Hereditary cancer-predisposing syndrome(B);Breast-ovarian cancer, familial 2(B);Breast-ovarian cancer, familial 2(B)" 12/20/2017 -62.97 2.1875 B 3 51197 Simple 75419644 C . CI 1 12 "Hereditary cancer-predisposing syndrome(B);not specified(US);not specified(B);Hereditary breast and ovarian cancer syndrome(LB);Fanconi anemia(LB);not specified(LB);not specified(LB);Hereditary cancer-predisposing syndrome(LB);not provided(B);Breast-ovarian cancer, familial 2(LB);Hereditary breast and ovarian cancer syndrome(B);not specified(LB)" 1/30/2018 -41.94 1.583333333 B 3 51207 Simple 55962656 C . CI 1 4 Hereditary breast and ovarian cancer syndrome(LB);Hereditary cancer-predisposing syndrome(LB);not specified(LB);not provided(US) 9/5/2017 -8.7 1.25 BLB 3 51249 Simple 55816687 T . CI 1 5 "Hereditary breast and ovarian cancer syndrome(B);not specified(LB);Hereditary cancer-predisposing syndrome(LB);Breast-ovarian cancer, familial 2(LB);not specified(LB)" 1/16/2018 -17.1 1.2 BLB 3 51291 Simple 80358511 G . CI 1 5 "Hereditary cancer-predisposing syndrome(LB);Breast-ovarian cancer, familial 2(US);not specified(LB);Hereditary cancer-predisposing syndrome(LB);Hereditary breast and ovarian cancer syndrome(LB)" 2/2/2018 -12 0.8 BLB 3 51305 Simple 80359785 G . CI 1 6 Hereditary cancer-predisposing syndrome(LB);Fanconi anemia(LB);Hereditary breast and ovarian cancer syndrome(LB);not specified(B);Hereditary breast and ovarian cancer syndrome(B);Hereditary cancer-predisposing syndrome(LB) 1/9/2018 -21.6 1.833333333 BLB 3 51372 Simple 276174831 AT . CI 1 11 "Hereditary cancer-predisposing syndrome(B);not specified(B);not specified(B);not specified(US);Breast-ovarian cancer, familial 2(LB);Hereditary breast and ovarian cancer syndrome(B);not specified(B);not specified(B);Hereditary cancer-predisposing syndrome(LB);not provided(B);Hereditary breast and ovarian cancer syndrome(B)" 1/4/2018 -47.64 2.090909091 B 3 51375 Simple 28897717 C . CI 1 8 Hereditary cancer-predisposing syndrome(B);not specified(LB);not specified(US);not specified(US);not specified(US);Hereditary cancer-predisposing syndrome(US);not provided(LB);Hereditary breast and ovarian cancer syndrome(US) 2/15/2018 -11.55 1.5 BLB 3 51381 Simple 80358545 G . CI 1 6 Hereditary cancer-predisposing syndrome(LB);not specified(LB);Hereditary breast and ovarian cancer syndrome(US);Fanconi anemia(US);Hereditary cancer-predisposing syndrome(LB);Hereditary breast and ovarian cancer syndrome(LB) 1/10/2018 -12.3 0.833333333 BLB 3 51393 Simple 80358550 G . CI 1 6 Hereditary cancer-predisposing syndrome(LB);not specified(LB);not specified(US);not specified(US);not provided(LB);Hereditary breast and ovarian cancer syndrome(LB) 12/12/2017 -12.18 1.5 BLB 3 51409 Simple 81002840 A . CI 1 4 Hereditary breast and ovarian cancer syndrome(LP);Hereditary cancer-predisposing syndrome(P);not provided(LP);not provided(LP) 6/2/2017 13.5 1.5 PLP 3 51414 Simple 81002841 A . CI 1 3 Hereditary breast and ovarian cancer syndrome(LB);not specified(B);Hereditary cancer-predisposing syndrome(LB) 10/29/2017 -10.8 1 BLB 3 51432 Simple 80358570 G . CI 1 3 Hereditary breast and ovarian cancer syndrome(LB);Hereditary cancer-predisposing syndrome(LB);not specified(LB) 12/18/2017 -8.7 0.666666667 BLB 3 51465 Simple 80358589 G . CI 1 10 "Hereditary breast and ovarian cancer syndrome(B);not specified(LB);Hereditary cancer-predisposing syndrome(LB);Carcinoma of esophagus(LB);Hereditary breast and ovarian cancer syndrome(LB);Fanconi anemia(LB);not specified(LB);not specified(LB);Hereditary cancer-predisposing syndrome(LB);Breast-ovarian cancer, familial 2(US)" 1/9/2018 -27.84 1.8 B 3 51530 Simple 80358624 G . CI 1 6 "Hereditary cancer-predisposing syndrome(LB);not specified(LB);Breast-ovarian cancer, familial 2(US);not specified(US);not provided(US);Hereditary breast and ovarian cancer syndrome(LB)" 11/30/2017 -9.54 1 BLB 3 51621 Simple 81002859 A . CI 1 2 Hereditary breast and ovarian cancer syndrome(LB);not specified(B) 10/13/2016 -8.7 1.5 BLB 3 51644 Simple 80358674 G . CI 1 11 "Hereditary cancer-predisposing syndrome(B);not specified(B);not specified(LB);Breast-ovarian cancer, familial 2(LB);Hereditary breast and ovarian cancer syndrome(LB);Fanconi anemia(LB);not specified(B);not specified(B);not specified(LB);Hereditary cancer-predisposing syndrome(LB);Hereditary breast and ovarian cancer syndrome(B)" 12/19/2017 -41.7 2.090909091 B 3 51682 Simple 80358694 C . CI 1 6 "Hereditary cancer-predisposing syndrome(LB);not specified(LB);Breast-ovarian cancer, familial 2(US);Hereditary breast and ovarian cancer syndrome(LB);not specified(LB);not specified(US)" 2/8/2018 -11.97 1.166666667 BLB 3 51695 Simple 2219594 A . CI 1 10 "Hereditary breast and ovarian cancer syndrome(B);Breast-ovarian cancer, familial 2(B);Hereditary cancer-predisposing syndrome(B);not specified(B);Breast-ovarian cancer, familial 2(B);Hereditary breast and ovarian cancer syndrome(B);Familial cancer of breast(B);not specified(B);Hereditary cancer-predisposing syndrome(LB);Breast-ovarian cancer, familial 2(LB)" 1/12/2018 -45.9 2.4 B 3 51702 Simple 56249050 A . CI 1 4 Hereditary breast and ovarian cancer syndrome(LB);Hereditary cancer-predisposing syndrome(LB);not specified(LB);Hereditary cancer-predisposing syndrome(LB) 9/6/2017 -11.1 1.5 BLB 3 51743 Simple 28897731 C . CI 1 5 "not specified(LB);Hereditary cancer-predisposing syndrome(LB);Breast-ovarian cancer, familial 2(LB);Hereditary breast and ovarian cancer syndrome(LB);not specified(US)" 12/23/2017 -11.7 1 BLB 3 51784 Simple 81002834 C . CI 1 4 Hereditary breast and ovarian cancer syndrome(B);not specified(B);Hereditary breast and ovarian cancer syndrome(B);Hereditary cancer-predisposing syndrome(B) 12/30/2017 -21.6 1.75 BLB 3 51797 Simple 81002828 C . CI 1 5 "Breast-ovarian cancer, familial 2(US);Hereditary cancer-predisposing syndrome(LB);not provided(US);not specified(LB);Hereditary breast and ovarian cancer syndrome(LB)" 2/7/2018 -9.57 1 BLB 3 51802 Simple 81002804 G . CI 1 5 "not specified(B);Hereditary cancer-predisposing syndrome(US);Breast-ovarian cancer, familial 2(US);Hereditary breast and ovarian cancer syndrome(B);not provided(US)" 1/6/2018 -11.07 1.6 BLB 3 51876 Simple 80358774 G . CI 1 4 Hereditary breast and ovarian cancer syndrome(LB);Hereditary cancer-predisposing syndrome(LB);not specified(LB);Hereditary cancer-predisposing syndrome(LB) 1/4/2018 -11.7 0.75 BLB 3 51895 Simple 55996097 A . CI 1 9 "Hereditary cancer-predisposing syndrome(LB);not specified(LB);not specified(US);Breast-ovarian cancer, familial 2(US);Fanconi anemia(LB);Hereditary breast and ovarian cancer syndrome(LB);not provided(US);Hereditary breast and ovarian cancer syndrome(B);Breast-ovarian cancer, familial 2(LB)" 12/23/2017 -21.15 1.555555556 BLB 3 51896 Simple 11571657 G . CI 1 14 "not specified(B);Breast-ovarian cancer, familial 2(B);not specified(B);Breast-ovarian cancer, familial 2(LB);Fanconi anemia(LB);Hereditary breast and ovarian cancer syndrome(LB);Hereditary breast and ovarian cancer syndrome(B);Hereditary breast and ovarian cancer syndrome(B);not specified(B);not specified(LB);Hereditary cancer-predisposing syndrome(LB);Hereditary cancer-predisposing syndrome(B);not specified(B);Hereditary cancer-predisposing syndrome(B)" 1/3/2018 -55.5 2.5 B 3 51982 Simple 80358833 A . CI 1 6 Hereditary cancer-predisposing syndrome(LB);not specified(LB);Hereditary breast and ovarian cancer syndrome(LB);Fanconi anemia(LB);not specified(US);Hereditary breast and ovarian cancer syndrome(B) 12/22/2017 -17.97 1 BLB 3 52057 Simple 56172926 C . CI 1 8 "Hereditary breast and ovarian cancer syndrome(B);Hereditary cancer-predisposing syndrome(LB);not specified(LB);not specified(B);Hereditary cancer-predisposing syndrome(LB);not provided(LB);Breast-ovarian cancer, familial 2(LB);Breast-ovarian cancer, familial 2(LB)" 12/19/2017 -26.7 1.75 B 3 52074 Simple 397507846 G . CI 1 4 Hereditary breast and ovarian cancer syndrome(LB);not specified(LB);not specified(US);Hereditary cancer-predisposing syndrome(LB) 9/19/2017 -9.21 1.25 BLB 3 52087 Simple 11571659 T . CI 1 12 "Hereditary breast and ovarian cancer syndrome(B);Breast-ovarian cancer, familial 2(B);Hereditary cancer-predisposing syndrome(B);not specified(B);Breast-ovarian cancer, familial 2(B);Fanconi anemia(LB);Hereditary breast and ovarian cancer syndrome(LB);Hereditary breast and ovarian cancer syndrome(B);not specified(B);not specified(B);Hereditary cancer-predisposing syndrome(LB);Breast-ovarian cancer, familial 2(LB)" 1/12/2018 -50.1 2.416666667 B 3 52096 Simple 80358880 A . CI 1 7 "Hereditary cancer-predisposing syndrome(LB);Breast-ovarian cancer, familial 2(US);Breast-ovarian cancer, familial 2(US);not specified(LB);not specified(US);Hereditary cancer-predisposing syndrome(LB);Hereditary breast and ovarian cancer syndrome(US)" 1/12/2018 -9.15 1.857142857 BLB 3 52108 Simple 80358881 A . CI 1 6 Hereditary cancer-predisposing syndrome(LB);not specified(LB);not specified(US);Hereditary cancer-predisposing syndrome(LB);not provided(B);Hereditary breast and ovarian cancer syndrome(B) 11/22/2017 -21 0.833333333 BLB 3 52183 Simple 80358904 G . CI 1 3 Hereditary breast and ovarian cancer syndrome(LB);not specified(LB);Hereditary cancer-predisposing syndrome(LB) 12/4/2017 -8.7 0.666666667 BLB 3 52187 Simple 81002830 A . CI 1 18 "Hereditary breast and ovarian cancer syndrome(B);Familial cancer of breast(B);not specified(US);Breast-ovarian cancer, familial 2(LB);Breast-ovarian cancer, familial 2(LB);not specified(LB);Hereditary breast and ovarian cancer syndrome(US);Breast-ovarian cancer, familial 2(B);Hereditary breast and ovarian cancer syndrome(LB);Fanconi anemia(LB);Hereditary breast and ovarian cancer syndrome(B);not specified(LB);Breast-ovarian cancer, familial 2(B);not specified(LB);not specified(B);not specified(LB);Hereditary cancer-predisposing syndrome(B);Hereditary breast and ovarian cancer syndrome(LB)" 1/16/2018 -61.44 1.944444444 B 3 52188 Simple 276174878 - . CI 1 4 Hereditary breast and ovarian cancer syndrome(B);Hereditary breast and ovarian cancer syndrome(US);not specified(US);Hereditary cancer-predisposing syndrome(B) 12/26/2017 -12.57 1 BLB 3 52191 Simple 80358906 A . CI 1 8 "Hereditary cancer-predisposing syndrome(LB);not specified(LB);not specified(US);Breast-ovarian cancer, familial 2(US);not specified(US);not specified(US);not provided(US);Hereditary breast and ovarian cancer syndrome(LB)" 11/16/2017 -9.9 2.125 BLB 3 52199 Simple 55712212 T . CI 1 7 "Hereditary breast and ovarian cancer syndrome(B);not specified(LB);Hereditary cancer-predisposing syndrome(B);Breast-ovarian cancer, familial 2(LB);not specified(US);Hereditary cancer-predisposing syndrome(LB);Hereditary cancer-predisposing syndrome(B)" 12/25/2017 -24.21 1.857142857 BLB 3 52220 Simple 80358916 T . CI 1 12 "Hereditary breast and ovarian cancer syndrome(LB);Fanconi anemia(LB);Breast-ovarian cancer, familial 2(B);not specified(B);not specified(US);not specified(LB);Hereditary cancer-predisposing syndrome(LB);Hereditary cancer-predisposing syndrome(LB);not provided(LB);Hereditary breast and ovarian cancer syndrome(B);Hereditary cancer-predisposing syndrome(B);Hereditary breast and ovarian cancer syndrome(LB)" 12/25/2017 -43.77 1 B 3 52225 Simple 80358921 A . CI 1 5 Hereditary cancer-predisposing syndrome(LB);not specified(US);not specified(US);not specified(LB);Hereditary breast and ovarian cancer syndrome(LB) 12/12/2017 -9.21 1.6 BLB 3 52247 Simple 76584943 G . CI 1 8 "Breast-ovarian cancer, familial 2(B);Breast-ovarian cancer, familial 2(B);Hereditary breast and ovarian cancer syndrome(US);not specified(LB);Hereditary cancer-predisposing syndrome(B);not specified(B);Breast-ovarian cancer, familial 2(B);Hereditary breast and ovarian cancer syndrome(B)" 3/30/2017 -32.94 2.625 B 3 52260 Simple 80358935 C . CI 1 9 Hereditary breast and ovarian cancer syndrome(B);Hereditary cancer-predisposing syndrome(LB);not specified(LB);Fanconi anemia(LB);Hereditary breast and ovarian cancer syndrome(LB);not specified(US);not specified(US);Hereditary cancer-predisposing syndrome(LB);not provided(LB) 1/7/2018 -23.85 1.555555556 BLB 3 52294 Simple 80358950 C . CI 1 9 "Hereditary cancer-predisposing syndrome(B);Breast-ovarian cancer, familial 2(LB);not specified(LB);not specified(US);not specified(LB);Hereditary cancer-predisposing syndrome(LB);not provided(LB);Hereditary breast and ovarian cancer syndrome(LB);Breast-ovarian cancer, familial 2(B)" 12/11/2017 -28.41 1.444444444 B 3 52327 Simple 81002793 A . CI 1 5 Hereditary breast and ovarian cancer syndrome(US);Fanconi anemia(US);not specified(LB);Hereditary cancer-predisposing syndrome(LB);Hereditary breast and ovarian cancer syndrome(B) 11/16/2017 -12.6 0.8 BLB 3 52328 Simple 81002814 G . CI 1 4 "Hereditary breast and ovarian cancer syndrome(LB);Breast-ovarian cancer, familial 2(LB);not provided(LB);not specified(LB)" 12/5/2017 -11.7 0.75 BLB 3 52335 Simple 80358967 A . CI 1 8 "Hereditary cancer-predisposing syndrome(LB);not specified(LB);Breast-ovarian cancer, familial 2(US);not specified(US);not specified(LB);Hereditary cancer-predisposing syndrome(LB);not provided(US);Hereditary breast and ovarian cancer syndrome(LB)" 11/1/2017 -14.37 1.375 BLB 3 52336 Simple 80358968 A . CI 1 8 "not specified(LB);not specified(US);Breast-ovarian cancer, familial 2(US);Breast-ovarian cancer, familial 2(US);Hereditary cancer-predisposing syndrome(LB);Hereditary cancer-predisposing syndrome(LB);not provided(LB);Breast-ovarian cancer, familial 2(US)" 11/16/2017 -12.99 1.75 BLB 3 52345 Simple 56070345 A . CI 1 5 Hereditary cancer-predisposing syndrome(LB);not specified(LB);not specified(LB);not provided(US);Hereditary breast and ovarian cancer syndrome(LB) 12/20/2017 -11.67 1.2 BLB 3 52347 Simple 80358978 A . CI 1 7 Hereditary breast and ovarian cancer syndrome(B);not specified(LB);Hereditary cancer-predisposing syndrome(US);Neoplasm of the breast(US);not specified(US);not specified(US);not provided(LB) 12/27/2017 -12.87 1 BLB 3 52349 Simple 80358980 T . CI 1 7 "Hereditary cancer-predisposing syndrome(US);not specified(LB);Breast-ovarian cancer, familial 2(LB);Hereditary breast and ovarian cancer syndrome(B);not specified(US);Hereditary cancer-predisposing syndrome(US);not provided(US)" 12/26/2017 -12.6 0.714285714 BLB 3 52412 Simple 81002819 G . CI 1 8 "Breast-ovarian cancer, familial 2(LB);not specified(B);Breast-ovarian cancer, familial 2(B);Hereditary breast and ovarian cancer syndrome(B);not specified(B);not specified(B);Hereditary cancer-predisposing syndrome(B);Hereditary breast and ovarian cancer syndrome(B)" 1/12/2018 -37.5 2.625 B 3 52414 Simple 81002847 G . CI 1 3 Hereditary breast and ovarian cancer syndrome(LB);not specified(LB);Hereditary cancer-predisposing syndrome(LB) 11/14/2017 -8.7 1 BLB 3 52441 Simple 81002822 C . CI 1 7 "not specified(US);not specified(LB);Hereditary cancer-predisposing syndrome(LB);not specified(B);Breast-ovarian cancer, familial 2(LB);Breast-ovarian cancer, familial 2(LB);Hereditary breast and ovarian cancer syndrome(B)" 8/3/2017 -22.35 2.285714286 BLB 3 52447 Simple 80359022 C . CI 1 4 "not provided(P);Breast-ovarian cancer, familial 2(P);Hereditary cancer-predisposing syndrome(LP);Hereditary cancer-predisposing syndrome(P)" 10/19/2017 20.4 1 P 3 52451 Simple 81002827 A . CI 1 10 "not specified(B);Hereditary cancer-predisposing syndrome(LB);Fanconi anemia(US);Hereditary breast and ovarian cancer syndrome(US);Breast-ovarian cancer, familial 2(US);Hereditary breast and ovarian cancer syndrome(LB);not specified(LB);not specified(B);Hereditary cancer-predisposing syndrome(LB);Hereditary breast and ovarian cancer syndrome(B)" 12/16/2017 -26.37 2.2 BLB 3 52471 Simple 80359035 T . CI 1 6 "Hereditary cancer-predisposing syndrome(LP);not provided(LP);Breast-ovarian cancer, familial 1(P);Hereditary breast and ovarian cancer syndrome(LP);not specified(US);Hereditary cancer-predisposing syndrome(LP)" 12/29/2017 17.79 1.333333333 P 3 52503 Simple 80359051 A . CI 1 5 "Hereditary cancer-predisposing syndrome(LB);not specified(LB);Breast-ovarian cancer, familial 2(B);not specified(LB);Hereditary breast and ovarian cancer syndrome(LB)" 12/6/2017 -17.1 1.2 BLB 3 52529 Simple 80359069 A . CI 1 7 "Hereditary cancer-predisposing syndrome(LB);not specified(LB);Hereditary breast and ovarian cancer syndrome(US);not specified(US);not specified(LB);Breast-ovarian cancer, familial 2(LB);Hereditary breast and ovarian cancer syndrome(B)" 2/22/2018 -17.97 1.142857143 BLB 3 52569 Simple 80359082 A . CI 1 9 "Hereditary breast and ovarian cancer syndrome(P);not provided(LP);not provided(P);Breast-ovarian cancer, familial 2(LP);Hereditary cancer-predisposing syndrome(P);Hereditary cancer-predisposing syndrome(P);Hereditary cancer-predisposing syndrome(P);Breast-ovarian cancer, familial 2(P);Hereditary breast and ovarian cancer syndrome(LP)" 12/11/2017 43.2 1.333333333 P 3 52622 Simple 80359111 C . CI 1 7 "not specified(LB);Hereditary cancer-predisposing syndrome(LB);Breast-ovarian cancer, familial 2(US);not specified(LB);Hereditary cancer-predisposing syndrome(LB);not provided(LB);Hereditary breast and ovarian cancer syndrome(LB)" 12/11/2017 -17.07 1.428571429 BLB 3 52642 Simple 81002818 G . CI 1 5 "Hereditary breast and ovarian cancer syndrome(B);not specified(B);Breast-ovarian cancer, familial 2(LB);Familial cancer of breast(B);Hereditary cancer-predisposing syndrome(B)" 12/18/2017 -24 2 BLB 3 52643 Simple 56268579 G . CI 1 3 "Hereditary breast and ovarian cancer syndrome(B);Breast-ovarian cancer, familial 2(B);not specified(LB)" 12/27/2017 -14.4 0.666666667 BLB 3 52662 Simple 28897753 G . CI 1 9 "Hereditary cancer-predisposing syndrome(LB);not specified(LB);Breast-ovarian cancer, familial 2(LB);Breast-ovarian cancer, familial 2(LB);not specified(LB);not specified(LB);Hereditary cancer-predisposing syndrome(LB);Hereditary cancer-predisposing syndrome(LB);Hereditary breast and ovarian cancer syndrome(LB)" 12/2/2017 -24.6 1.666666667 BLB 3 52669 Simple 81002893 G . CI 1 6 "Breast-ovarian cancer, familial 2(P);Breast-ovarian cancer, familial 2(P);Breast-ovarian cancer, familial 2(LP);Hereditary breast and ovarian cancer syndrome(P);Hereditary cancer-predisposing syndrome(P);Hereditary breast and ovarian cancer syndrome(P)" 8/19/2016 29.4 2 P 3 52692 Simple 28897754 T . CI 1 19 "not specified(LB);not specified(B);Hereditary cancer-predisposing syndrome(B);not specified(LB);Breast-ovarian cancer, familial 2(B);Hereditary cancer-predisposing syndrome(LB);Breast-ovarian cancer, familial 2(B);Hereditary breast and ovarian cancer syndrome(LB);Hereditary breast and ovarian cancer syndrome(LB);Hereditary breast and ovarian cancer syndrome(B);Hereditary cancer-predisposing syndrome(LB);not specified(B);not specified(B);not specified(LB);not specified(LB);not specified(US);Hereditary breast and ovarian cancer syndrome(B);Breast-ovarian cancer, familial 2(B);Breast-ovarian cancer, familial 2(B)" 1/10/2018 -75.9 1.842105263 B 3 52708 Simple 81002892 T . CI 1 5 "not specified(B);Breast-ovarian cancer, familial 2(LB);Hereditary cancer-predisposing syndrome(B);not provided(LB);Hereditary breast and ovarian cancer syndrome(B)" 11/22/2017 -22.2 1.6 BLB 3 52743 Simple 56179254 A . CI 1 6 Hereditary cancer-predisposing syndrome(B);not specified(LB);Hereditary breast and ovarian cancer syndrome(B);not specified(LB);not specified(LB);not provided(B) 1/22/2018 -25.8 0.833333333 BLB 3 52753 Simple 80359167 T . CI 1 6 "Hereditary cancer-predisposing syndrome(LB);not specified(LB);Breast-ovarian cancer, familial 2(LB);Hereditary breast and ovarian cancer syndrome(LB);not specified(LB);not specified(LB)" 2/5/2018 -17.1 1.166666667 BLB 3 52757 Simple 81002869 T . CI 1 3 "Hereditary breast and ovarian cancer syndrome(LB);Breast-ovarian cancer, familial 2(LB);not specified(LB)" 12/18/2017 -8.7 1 BLB 3 52772 Simple 80359177 A . CI 1 4 Hereditary breast and ovarian cancer syndrome(LB);Hereditary cancer-predisposing syndrome(LB);not specified(LB);not provided(US) 12/8/2017 -9 0.75 BLB 3 52791 Simple 81002807 A . CI 1 3 Hereditary breast and ovarian cancer syndrome(LB);Hereditary cancer-predisposing syndrome(LB);not provided(LB) 8/9/2017 -8.4 1.333333333 BLB 3 52800 Simple 80359195 G . CI 1 11 "Hereditary cancer-predisposing syndrome(LB);Breast-ovarian cancer, familial 2(LB);Breast-ovarian cancer, familial 2(US);not specified(LB);not specified(US);not specified(LB);Hereditary cancer-predisposing syndrome(LB);not provided(LB);Breast-ovarian cancer, familial 2(US);Breast-ovarian cancer, familial 2(US);Hereditary breast and ovarian cancer syndrome(LB)" 12/27/2017 -20.85 1.636363636 BLB 3 52805 Simple 80359198 G . CI 1 6 Hereditary breast and ovarian cancer syndrome(P);Hereditary cancer-predisposing syndrome(P);not provided(P);not provided(LP);Hereditary cancer-predisposing syndrome(LP);not provided(US) 10/23/2017 23.7 0.833333333 P 3 52854 Simple 81002848 G . CI 1 4 "Hereditary breast and ovarian cancer syndrome(US);Hereditary cancer-predisposing syndrome(LB);Breast-ovarian cancer, familial 2(LB);not specified(LB)" 3/12/2018 -8.7 1 BLB 3 52856 Simple 81002803 G . CI 1 6 Hereditary cancer-predisposing syndrome(US);not specified(US);Hereditary breast and ovarian cancer syndrome(LB);not specified(US);not provided(LB);Hereditary breast and ovarian cancer syndrome(B) 1/9/2018 -12.75 1.5 BLB 3 52869 Simple 55939572 G . CI 1 7 "Hereditary cancer-predisposing syndrome(B);not specified(LB);Breast-ovarian cancer, familial 2(US);not specified(US);not specified(US);not provided(US);Hereditary breast and ovarian cancer syndrome(US)" 12/24/2017 -9.15 1.714285714 BLB 3 52882 Simple 81002832 A . CI 1 2 "Hereditary breast and ovarian cancer syndrome(B);Breast-ovarian cancer, familial 2(LB)" 7/28/2017 -8.4 1 BLB 3 52897 Simple 55847618 G . CI 1 5 "Hereditary cancer-predisposing syndrome(US);not specified(LB);Breast-ovarian cancer, familial 2(US);not provided(LB);Hereditary breast and ovarian cancer syndrome(LB)" 1/20/2018 -9.6 0.6 BLB 3 52910 Simple 56121817 T . CI 1 11 "Hereditary cancer-predisposing syndrome(US);not specified(LB);not specified(US);Breast-ovarian cancer, familial 2(LB);Breast-ovarian cancer, familial 2(US);Hereditary breast and ovarian cancer syndrome(LB);Fanconi anemia(LB);not specified(US);not provided(US);not provided(LB);Hereditary breast and ovarian cancer syndrome(B)" 2/21/2018 -21.81 1.272727273 BLB 3 53061 Simple 120074177 A . CI 1 3 Long QT syndrome(P);not provided(P);Cardiovascular phenotype(LP) 9/5/2017 14.7 1 P 3 53063 Simple 199473394 A . CI 1 4 not provided(P);Long QT syndrome 1(P);Romano-Ward syndrome(LP);Cardiovascular phenotype(US) 1/23/2018 12.9 1.5 PLP 3 53229 Simple 147422190 T . CI 1 6 Cystic fibrosis(P);not specified(US);Cystic fibrosis(P);Hereditary pancreatitis(P);not provided(LP);not specified(P) 11/9/2017 21.96 2.333333333 P 3 53465 Simple 150157202 A . CI 1 5 Cystic fibrosis(US);not specified(LB);not specified(US);not provided(B);Cystic fibrosis(B) 12/10/2017 -15.6 0.8 BLB 3 53536 Simple 397508414 A . CI 1 4 Cystic fibrosis(US);Cystic fibrosis(P);Hereditary pancreatitis(P);Cystic fibrosis(LP) 5/22/2017 14.7 1 P 3 53684 Simple 200321110 A . CI 1 5 Cystic fibrosis(US);not specified(US);not provided(LP);not specified(P);Cystic fibrosis(LP) 6/30/2017 11.43 1 PLP 3 53751 Simple 199630678 C . CI 1 4 Cystic fibrosis(B);not specified(US);not specified(LB);not specified(US) 11/23/2017 -9.6 0.5 BLB 3 54082 Simple 143486492 A . CI 1 5 Cystic fibrosis(B);not specified(LB);not specified(US);not provided(US);not specified(LB) 11/2/2017 -12 1.2 BLB 3 54130 Simple 80358325 - . CI 1 8 "Hereditary cancer-predisposing syndrome(LB);not specified(LB);Breast-ovarian cancer, familial 1(LB);Hereditary breast and ovarian cancer syndrome(LB);not specified(LB);Hereditary cancer-predisposing syndrome(LB);not provided(US);Hereditary breast and ovarian cancer syndrome(B)" 3/8/2018 -21.6 1.875 BLB 3 54153 Simple 80357164 C . CI 1 2 "Breast-ovarian cancer, familial 1(P);Breast-ovarian cancer, familial 1(LP)" 10/17/2016 8.4 1.5 PLP 3 54174 Simple 80357113 C . CI 1 3 Hereditary breast and ovarian cancer syndrome(LB);Hereditary cancer-predisposing syndrome(B);not specified(LB) 8/22/2017 -10.8 1.333333333 BLB 3 54178 Simple 80357488 A . CI 1 4 Hereditary breast and ovarian cancer syndrome(US);not specified(LB);Hereditary cancer-predisposing syndrome(LB);Hereditary cancer-predisposing syndrome(LB) 12/4/2017 -8.4 1.25 BLB 3 54200 Simple 80357446 A . CI 1 7 "Hereditary cancer-predisposing syndrome(P);Breast-ovarian cancer, familial 1(P);Breast-ovarian cancer, familial 1(P);Breast-ovarian cancer, familial 1(P);not provided(P);Breast-ovarian cancer, familial 1(P);Hereditary cancer-predisposing syndrome(P)" 11/1/2017 39.6 1.428571429 P 3 54247 Simple 80357150 A . CI 1 4 "Breast-ovarian cancer, familial 1(P);Breast-ovarian cancer, familial 1(LP);Breast-ovarian cancer, familial 1(P);Breast-ovarian cancer, familial 1(LP)" 6/6/2016 16.5 1.75 P 3 54251 Simple 55720177 C . CI 1 7 "Hereditary cancer-predisposing syndrome(LB);not specified(LB);Breast-ovarian cancer, familial 1(LB);not specified(LB);Hereditary cancer-predisposing syndrome(LB);not provided(B);Hereditary breast and ovarian cancer syndrome(B)" 2/14/2018 -25.5 1.285714286 BLB 3 54310 Simple 80357374 A . CI 1 7 "not specified(LB);Hereditary cancer-predisposing syndrome(LB);Breast-ovarian cancer, familial 1(US);Hereditary breast and ovarian cancer syndrome(B);not specified(LB);not provided(B);Hereditary breast and ovarian cancer syndrome(B)" 1/3/2018 -25.8 1.142857143 BLB 3 54329 Simple 80356910 A . CI 1 7 Hereditary cancer-predisposing syndrome(LB);not specified(LB);not specified(US);not specified(US);Hereditary cancer-predisposing syndrome(LB);not provided(US);Hereditary breast and ovarian cancer syndrome(LB) 12/15/2017 -12.54 1.142857143 BLB 3 54345 Simple 80356859 G . CI 1 3 Hereditary cancer-predisposing syndrome(LB);not specified(LB);Hereditary cancer-predisposing syndrome(LB) 10/30/2017 -8.7 1 BLB 3 54364 Simple 80357093 T . CI 1 3 "not provided(P);Breast-ovarian cancer, familial 1(P);Hereditary breast and ovarian cancer syndrome(P)" 5/25/2016 15 2.666666667 P 3 54394 Simple 80357064 G . CI 1 3 "Hereditary cancer-predisposing syndrome(P);Breast-ovarian cancer, familial 1(P);Hereditary cancer-predisposing syndrome(P)" 8/28/2017 17.4 1 P 3 54425 Simple 55678461 G . CI 1 7 "not specified(B);Hereditary cancer-predisposing syndrome(LB);Breast-ovarian cancer, familial 1(US);not specified(B);not specified(US);not provided(LB);Hereditary breast and ovarian cancer syndrome(LB)" 1/8/2018 -18.87 1.714285714 BLB 3 54456 Simple 28897681 A . CI 1 4 Hereditary breast and ovarian cancer syndrome(LB);Hereditary cancer-predisposing syndrome(LB);not specified(LB);not specified(LB) 12/11/2017 -10.8 1.75 BLB 3 54541 Simple 80356948 C . CI 1 6 "Hereditary cancer-predisposing syndrome(B);not specified(LB);Breast-ovarian cancer, familial 1(US);Breast-ovarian cancer, familial 1(US);not specified(B);not provided(LB)" 1/18/2018 -16.14 1.833333333 BLB 3 54591 Simple 80357337 T . CI 1 7 "Hereditary cancer-predisposing syndrome(B);not specified(LB);not specified(LB);not provided(LB);Breast-ovarian cancer, familial 1(LB);Breast-ovarian cancer, familial 1(LB);Hereditary breast and ovarian cancer syndrome(LB)" 11/18/2017 -21.9 1.428571429 BLB 3 54727 Simple 80356970 A . CI 1 4 Hereditary breast and ovarian cancer syndrome(US);Hereditary cancer-predisposing syndrome(LB);not specified(LB);Hereditary cancer-predisposing syndrome(LB) 11/15/2017 -9 0.75 BLB 3 54840 Simple 80358335 - . CI 1 8 "Hereditary breast and ovarian cancer syndrome(B);Hereditary cancer-predisposing syndrome(US);not specified(US);not specified(US);Breast-ovarian cancer, familial 1(US);not specified(LB);not provided(LB);Breast-ovarian cancer, familial 1(US)" 12/20/2017 -13.08 1.25 BLB 3 54876 Simple 80358337 - . CI 1 6 "Hereditary cancer-predisposing syndrome(LB);not specified(LB);Breast-ovarian cancer, familial 1(US);Hereditary cancer-predisposing syndrome(LB);not provided(US);Hereditary breast and ovarian cancer syndrome(LB)" 1/25/2018 -12 1 BLB 3 54970 Simple 28897687 C . CI 1 14 "Hereditary breast and ovarian cancer syndrome(B);not specified(LB);Hereditary cancer-predisposing syndrome(B);Breast and/or ovarian cancer(LB);not specified(US);Hereditary cancer-predisposing syndrome(B);Breast-ovarian cancer, familial 1(LB);not specified(US);not specified(B);not specified(LB);Hereditary breast and ovarian cancer syndrome(B);not specified(US);Breast-ovarian cancer, familial 1(LB);Breast-ovarian cancer, familial 1(LB)" 2/20/2018 -44.4 1.5 B 3 55020 Simple 80357036 T . CI 1 4 Hereditary breast and ovarian cancer syndrome(LB);Hereditary cancer-predisposing syndrome(LB);not specified(LB);not specified(US) 1/5/2018 -8.7 1.25 BLB 3 55111 Simple 28897690 T . CI 1 7 "Hereditary cancer-predisposing syndrome(LB);not specified(LB);Breast-ovarian cancer, familial 1(US);not specified(LB);Hereditary cancer-predisposing syndrome(LB);not provided(LB);Hereditary breast and ovarian cancer syndrome(B)" 12/18/2017 -20.07 1.428571429 BLB 3 55133 Simple 80358172 T . CI 1 4 not specified(LB);not specified(US);not specified(US);not provided(B) 12/11/2017 -9 1 BLB 3 55174 Simple 80357486 C . CI 1 6 "Hereditary breast and ovarian cancer syndrome(LB);Hereditary cancer-predisposing syndrome(B);Breast-ovarian cancer, familial 1(US);not specified(LB);not specified(US);not provided(US)" 12/5/2017 -11.67 1.166666667 BLB 3 55214 Simple 80358054 C . CI 1 6 "Hereditary cancer-predisposing syndrome(LP);Hereditary breast and ovarian cancer syndrome(P);not provided(P);Breast-ovarian cancer, familial 1(P);Breast-ovarian cancer, familial 1(P);Hereditary breast and ovarian cancer syndrome(LP)" 12/9/2017 26.7 1.666666667 P 3 55233 Simple 80357095 C . CI 1 4 Hereditary cancer-predisposing syndrome(LB);not specified(LB);not specified(LB);not provided(US) 2/9/2018 -8.97 1.25 BLB 3 55259 Simple 56158747 A . CI 1 8 "Hereditary breast and ovarian cancer syndrome(B);not specified(B);Hereditary cancer-predisposing syndrome(B);Breast-ovarian cancer, familial 1(B);not specified(LB);Hereditary breast and ovarian cancer syndrome(LB);not specified(LB);Hereditary cancer-predisposing syndrome(LB)" 1/12/2018 -29.4 2.625 B 3 55272 Simple 80356909 G . CI 1 5 Hereditary cancer-predisposing syndrome(LB);not specified(LB);not specified(LB);not provided(US);Hereditary breast and ovarian cancer syndrome(US) 12/27/2017 -9.3 0.8 BLB 3 55279 Simple 80357070 A . CI 1 4 Hereditary breast and ovarian cancer syndrome(LB);not specified(LB);Hereditary cancer-predisposing syndrome(LB);Hereditary cancer-predisposing syndrome(LB) 1/15/2018 -11.7 0.75 BLB 3 55283 Simple 80357002 A . CI 1 5 Hereditary cancer-predisposing syndrome(LB);not specified(LB);Hereditary cancer-predisposing syndrome(LB);not provided(US);Hereditary breast and ovarian cancer syndrome(LB) 6/2/2017 -11.7 1.2 BLB 3 55306 Simple 80357465 C . CI 1 5 Hereditary cancer-predisposing syndrome(US);Neoplasm of the breast(US);not specified(LB);not specified(LB);Hereditary cancer-predisposing syndrome(LB) 1/16/2018 -9.18 1.8 BLB 3 55368 Simple 80358344 - . CI 1 6 "Hereditary cancer-predisposing syndrome(P);not provided(P);Breast-ovarian cancer, familial 1(P);Breast-ovarian cancer, familial 1(P);Hereditary breast and ovarian cancer syndrome(P);Hereditary cancer-predisposing syndrome(P)" 8/18/2017 34.8 0.833333333 P 3 55386 Simple 80358345 - . CI 1 4 "Hereditary cancer-predisposing syndrome(LP);not provided(LP);Breast-ovarian cancer, familial 1(P);Breast-ovarian cancer, familial 1(LP)" 2/14/2017 14.1 1.5 PLP 3 55441 Simple 80357104 A . CI 1 8 "Hereditary cancer-predisposing syndrome(P);not provided(LP);not provided(LP);Breast-ovarian cancer, familial 1(P);Breast-ovarian cancer, familial 1(LP);Hereditary cancer-predisposing syndrome(LP);Hereditary breast and ovarian cancer syndrome(LP);Hereditary breast and ovarian cancer syndrome(LP)" 12/20/2017 29.4 0.875 P 3 55453 Simple 80357270 C . CI 1 4 Hereditary breast and ovarian cancer syndrome(LB);Hereditary cancer-predisposing syndrome(LB);not specified(LB);not provided(LB) 2/14/2018 -11.4 1 BLB 3 55462 Simple 80357450 T . CI 1 3 "Hereditary breast and ovarian cancer syndrome(P);Breast-ovarian cancer, familial 1(P);Breast-ovarian cancer, familial 1(LP)" 11/6/2016 14.1 1.666666667 PLP 3 55539 Simple 80357041 C . CI 1 7 Hereditary cancer-predisposing syndrome(B);not specified(LB);not specified(LB);not specified(LB);Hereditary cancer-predisposing syndrome(LB);not provided(LB);Hereditary breast and ovarian cancer syndrome(LB) 9/15/2017 -22.2 1.285714286 BLB 3 55541 Simple 80357474 G . CI 1 5 "Hereditary cancer-predisposing syndrome(US);not specified(US);Hereditary breast and ovarian cancer syndrome(P);Breast-ovarian cancer, familial 1(P);Hereditary breast and ovarian cancer syndrome(US)" 1/25/2017 11.16 1.4 PLP 3 55564 Simple 80358073 T . CI 1 2 "Breast-ovarian cancer, familial 1(P);Breast-ovarian cancer, familial 1(P)" 10/2/2015 10.8 2 PLP 3 55585 Simple 80357286 C . CI 1 5 Hereditary cancer-predisposing syndrome(B);not specified(LB);not specified(LB);not provided(LB);Hereditary breast and ovarian cancer syndrome(B) 10/24/2017 -19.5 1.4 BLB 3 55598 Simple 80357268 T . CI 1 6 "Hereditary cancer-predisposing syndrome(LP);Breast-ovarian cancer, familial 1(LP);not provided(LP);Hereditary breast and ovarian cancer syndrome(LP);Hereditary breast and ovarian cancer syndrome(LP);Hereditary breast and ovarian cancer syndrome(LP)" 11/13/2017 16.5 1.666666667 P 3 55720 Simple 80357244 T . CI 1 6 "not specified(LB);Hereditary cancer-predisposing syndrome(LB);Hereditary breast and ovarian cancer syndrome(LB);Breast-ovarian cancer, familial 1(US);not specified(LB);Hereditary breast and ovarian cancer syndrome(B)" 1/25/2018 -17.37 1.333333333 BLB 3 55725 Simple 8176153 T . CI 1 7 "Hereditary breast and ovarian cancer syndrome(B);Hereditary cancer-predisposing syndrome(LB);not specified(LB);Breast-ovarian cancer, familial 1(LB);not specified(LB);Hereditary cancer-predisposing syndrome(LB);not provided(LB)" 1/12/2018 -22.8 1.285714286 BLB 3 55836 Simple 150532648 G . CI 1 3 "Hereditary sensory and autonomic neuropathy type II(LB);Pseudohypoaldosteronism, type 2(LB);Hereditary sensory and autonomic neuropathy type IIA(LB);Pseudohypoaldosteronism type 2C(LB)" 12/27/2016 -9 1 BLB 3 56316 Simple 386833764 - . CI 1 4 not specified(B);Joubert syndrome(LB);Meckel-Gruber syndrome(LB);not specified(B) 3/7/2018 -15.6 1.75 BLB 3 56399 Simple 386833844 A . CI 1 3 Baller-Gerold syndrome(LP);not specified(US);not provided(P) 12/20/2017 8.73 1 PLP 3 56593 Simple 386834024 A . CI 1 4 "Muscle eye brain disease(LP);Congenital Muscular Dystrophy, alpha-dystroglycan related(LP);Limb-Girdle Muscular Dystrophy, Recessive(US);not provided(P)" 3/29/2017 10.8 1.75 PLP 3 60545 Simple 202160208 T . CI 1 3 "Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14(P);not provided(P);Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14(US);Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14(US);Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14(US)" 8/10/2017 10.5 1.333333333 PLP 3 60727 Simple 201654872 A . CI 1 2 Left ventricular noncompaction 8(B);not specified(B) 11/28/2017 -10.8 1.5 BLB 3 64814 Simple 199620268 C . CI 1 6 Hereditary cancer-predisposing syndrome(LB);not specified(B);Tuberous sclerosis 1(B);not specified(US);Focal cortical dysplasia type II(LB);Tuberous sclerosis syndrome(LB) 1/6/2018 -21.27 1 BLB 3 64816 Simple 200200869 A . CI 1 7 not specified(B);not specified(US);Tuberous sclerosis 1(B);not specified(LB);Tuberous sclerosis syndrome(LB);Focal cortical dysplasia type II(LB);Hereditary cancer-predisposing syndrome(B) 1/5/2018 -25.14 1.714285714 BLB 3 64847 Simple 201135184 A . CI 1 3 Hereditary cancer-predisposing syndrome(US);not specified(LB);Tuberous sclerosis 2(B) 1/12/2018 -8.94 1.666666667 BLB 3 65083 Simple 397515062 T . CI 1 3 Hereditary cancer-predisposing syndrome(US);not specified(LB);Tuberous sclerosis 2(B) 11/24/2017 -9.3 0.666666667 BLB 3 65221 Simple 397515162 T . CI 1 3 not specified(LB);Tuberous sclerosis 2(B);Hereditary cancer-predisposing syndrome(US) 10/30/2017 -9 1 BLB 3 65285 Simple 397515209 T . CI 1 4 not specified(LB);not specified(US);Tuberous sclerosis 2(B);Hereditary cancer-predisposing syndrome(US) 1/4/2018 -8.97 1.5 BLB 3 65289 Simple 370404391 A . CI 1 4 Hereditary cancer-predisposing syndrome(LB);not specified(B);Tuberous sclerosis 2(B);Tuberous sclerosis syndrome(US) 1/22/2018 -15.3 0.25 BLB 3 65307 Simple 397515223 C . CI 1 4 not specified(US);Tuberous sclerosis 2(B);Tuberous sclerosis syndrome(US);Hereditary cancer-predisposing syndrome(LB) 12/24/2017 -9.57 1 BLB 3 65358 Simple 137854065 T . CI 1 3 not specified(LB);Tuberous sclerosis 2(B);Hereditary cancer-predisposing syndrome(US) 1/3/2018 -9.3 0.333333333 BLB 3 65655 Simple 2229738 T . CI 1 2 not specified(B);Carnitine palmitoyltransferase I deficiency(B) 8/3/2015 -10.2 2.5 BLB 3 65665 Simple 61752783 A . CI 1 5 not specified(B);not provided(LB);Progressive sclerosing poliodystrophy(B);not specified(B);not specified(US) 12/28/2017 -19.17 1.8 BLB 3 65708 Simple 61757484 A . CI 1 6 "not specified(B);not provided(LB);Leber congenital amaurosis(LB);Retinitis Pigmentosa, Recessive(LB);Retinitis Pigmentosa, Dominant(LB);Leber congenital amaurosis 4(B)" 8/25/2017 -22.5 1.333333333 BLB 3 65831 Simple 41272687 T . CI 1 4 not specified(B);not specified(B);not specified(LB);not specified(B) 7/3/2017 -19.5 1.5 BLB 3 65927 Simple 118192158 A . CI 1 4 not provided(P);not specified(US);not provided(P);RYR1-Related Disorders(P) 10/23/2017 15.39 2.5 P 3 66673 Simple 60547413 A . CI 1 3 "Charcot-Marie-Tooth, Type 1(US);not specified(LB);Charcot-Marie-Tooth disease type 2E(B)" 11/28/2017 -9.3 0.666666667 BLB 3 66780 Simple 267607603 A . CI 1 17 "not specified(US);Dilated Cardiomyopathy, Dominant(LB);Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules(LB);Dilated cardiomyopathy 1A(LB);Hutchinson-Gilford syndrome(LB);Charcot-Marie-Tooth, Type 2(LB);Emery-Dreifuss muscular dystrophy(LB);Hutchinson-Gilford syndrome(LB);Lethal tight skin contracture syndrome(LB);Hutchinson-Gilford syndrome(LB);Familial partial lipodystrophy(LB);Congenital muscular dystrophy, LMNA-related(LB);Limb-Girdle Muscular Dystrophy, Recessive(LB);Mandibuloacral dysplasia(LB);not specified(B);Charcot-Marie-Tooth disease, type 2(B);Cardiovascular phenotype(LB)" 11/27/2017 -53.31 1.235294118 B 3 67020 Simple 12720457 T . CI 1 11 not specified(LB);Long QT syndrome(B);not specified(US);not specified(LB);Romano-Ward syndrome(LB);Jervell and Lange-Nielsen syndrome(LB);Long QT syndrome(LB);short QT syndrome(LB);Familial atrial fibrillation(LB);Long QT syndrome(B);not specified(LB) 7/20/2017 -34.44 1.272727273 B 3 67163 Simple 138776684 A . CI 1 5 Long QT syndrome(LB);not specified(US);Long QT syndrome(B);not specified(LB);Cardiovascular phenotype(LB) 12/29/2017 -14.4 1.4 BLB 3 67505 Simple 139544114 A . CI 1 6 Long QT syndrome(B);not specified(LB);Long QT syndrome(LB);not specified(US);not specified(LB);Cardiovascular phenotype(B) 12/22/2017 -19.47 1.333333333 BLB 3 67552 Simple 199473505 A . CI 1 5 not specified(LB);not specified(US);Long QT syndrome(LB);Long QT syndrome(B);Cardiovascular phenotype(US) 12/27/2017 -12 1.2 BLB 3 67704 Simple 199473140 T . CI 1 3 not specified(LB);Brugada syndrome(B);not provided(LB) 12/21/2017 -12 0.333333333 BLB 3 67712 Simple 45553235 T . CI 1 6 not specified(LB);Long QT syndrome(LB);not specified(US);Brugada syndrome 1(US);Long QT syndrome 3(US);Brugada syndrome(LB);Cardiovascular phenotype(LB) 1/19/2018 -11.34 1.833333333 BLB 3 67732 Simple 199473584 T . CI 1 5 Brugada syndrome(US);Brugada syndrome(LP);Brugada syndrome(US);not provided(P);Cardiovascular phenotype(LP) 2/2/2018 11.46 0.8 PLP 3 67988 Simple 199473316 T . CI 1 5 not specified(US);Long QT syndrome(LB);not specified(LB);Brugada syndrome(LB);Cardiovascular phenotype(LB) 1/26/2018 -11.34 1.6 BLB 3 68032 Simple 199473072 A . CI 1 4 not provided(P);Brugada syndrome(P);Long QT syndrome 3(P);Cardiovascular phenotype(LP) 12/15/2017 21 0.5 P 3 68049 Simple 61746118 A . CI 1 4 not specified(US);not specified(LB);Brugada syndrome(LB);Cardiovascular phenotype(LB) 1/22/2018 -9.21 1.5 BLB 3 68099 Simple 137853960 T . CI 1 9 Hypercholesterolaemia(US);Familial hypercholesterolemia(LB);Familial hypercholesterolemia(B);Familial hypercholesterolemia(B);not specified(US);Familial hypercholesterolemia(B);Familial hypercholesterolemia(LB);Familial hypercholesterolemia(US);Familial hypercholesterolemia(LB) 11/30/2017 -26.85 1.666666667 B 3 68104 Simple 137853963 A . CI 1 9 Familial hypercholesterolemia(LB);Familial hypercholesterolemia(LB);Familial hypercholesterolemia(LB);Familial hypercholesterolemia(B);Familial hypercholesterolemia(LB);Familial hypercholesterolemia(LB);Familial hypercholesterolemia(US);Familial hypercholesterolemia(LB);not provided(LB) 12/26/2017 -26.67 1.222222222 BLB 3 68425 Simple 121908242 C . CI 1 4 "not specified(US);not specified(LB);not provided(B);Episodic ataxia type 2(LB);Epileptic encephalopathy, early infantile, 42(LB)" 11/17/2017 -12.3 0.25 BLB 3 68588 Simple 121918817 T . CI 1 4 not specified(US);not specified(LB);not specified(B);Early infantile epileptic encephalopathy(B) 12/11/2017 -15.21 1.25 BLB 3 68613 Simple 121918818 G . CI 1 3 not specified(LB);not specified(LB);Early infantile epileptic encephalopathy(LB) 11/6/2017 -8.7 0.666666667 BLB 3 68616 Simple 121918799 C . CI 1 7 not specified(US);not specified(LB);not specified(US);Seizure Disorders(LB);Familial hemiplegic migraine(LB);Seizures(US);Generalized tonic-clonic seizures(US);Absence seizures(US);Early infantile epileptic encephalopathy(B) 12/27/2017 -15.72 1.571428571 BLB 3 70633 Simple 143011005 A . CI 1 3 not specified(US);Long QT syndrome(B);Cardiovascular phenotype(LB) 1/9/2018 -8.64 2 BLB 3 88737 Simple 199714731 A . CI 1 2 "not specified(B);Cone-Rod Dystrophy, Dominant(LB)" 6/14/2016 -8.4 1.5 BLB 3 89039 Simple 55881945 G . CI 1 4 not specified(LB);Hereditary cancer-predisposing syndrome(LB);Hereditary breast and ovarian cancer syndrome(US);Hereditary cancer-predisposing syndrome(LB) 8/7/2017 -9 0.75 BLB 3 89064 Simple 80357075 A . CI 1 6 not specified(LB);Hereditary cancer-predisposing syndrome(B);not specified(US);Hereditary breast and ovarian cancer syndrome(LB);Hereditary cancer-predisposing syndrome(LB);not provided(US) 3/2/2018 -14.37 1.166666667 BLB 3 91441 Simple 398122550 C . CI 1 4 Hereditary cancer-predisposing syndrome(LB);Hereditary breast and ovarian cancer syndrome(US);not specified(LB);Hereditary cancer-predisposing syndrome(LB) 1/11/2018 -9 0.75 BLB 3 91520 Simple 276174920 TT . CI 1 4 Hereditary breast and ovarian cancer syndrome(B);not specified(LB);Hereditary cancer-predisposing syndrome(LB);not provided(LB) 12/5/2017 -15 0.5 BLB 3 91552 Simple 199540030 T . CI 1 7 "Hereditary cancer-predisposing syndrome(LB);not specified(LB);Breast-ovarian cancer, familial 1(US);Hereditary breast and ovarian cancer syndrome(LB);not specified(US);not specified(US);not provided(US)" 10/19/2017 -9.51 1.571428571 BLB 3 91634 Simple 80358067 C . CI 1 3 Hereditary cancer-predisposing syndrome(LB);not specified(B);Hereditary breast and ovarian cancer syndrome(LB) 11/15/2017 -11.1 1.333333333 BLB 3 91636 Simple 80358032 C . CI 1 6 "not specified(US);Hereditary breast and ovarian cancer syndrome(B);Breast-ovarian cancer, familial 1(B);Breast-ovarian cancer, familial 1(US);Hereditary cancer-predisposing syndrome(LB);not specified(LB)" 12/29/2017 -16.95 2.333333333 BLB 3 91645 Simple 80358105 C . CI 1 8 "Breast-ovarian cancer, familial 1(LB);Hereditary breast and ovarian cancer syndrome(B);Breast-ovarian cancer, familial 1(LB);not specified(B);Familial cancer of breast(B);not specified(LB);Hereditary cancer-predisposing syndrome(LB);Breast-ovarian cancer, familial 1(LB)" 12/15/2017 -30 2 B 3 91652 Simple 273902770 - . CI 1 3 Hereditary breast and ovarian cancer syndrome(B);not specified(LB);not provided(US) 12/27/2017 -9.27 0.666666667 BLB 3 91657 Simple 80358013 T . CI 1 5 not specified(B);Hereditary cancer-predisposing syndrome(LB);Hereditary breast and ovarian cancer syndrome(US);Hereditary breast and ovarian cancer syndrome(LB);not specified(LB) 5/9/2017 -13.47 2 BLB 3 91666 Simple 80358055 C . CI 1 5 "not specified(LB);Breast-ovarian cancer, familial 1(LB);Hereditary breast and ovarian cancer syndrome(B);Hereditary cancer-predisposing syndrome(LB);not provided(B)" 2/14/2018 -19.2 1.6 BLB 3 91667 Simple 273902790 - . CI 1 2 Hereditary breast and ovarian cancer syndrome(B);not specified(LB) 6/2/2016 -8.7 1.5 BLB 3 91745 Simple 80359259 - . CI 1 3 Hereditary cancer-predisposing syndrome(LB);Hereditary breast and ovarian cancer syndrome(LB);not specified(LB) 12/4/2017 -8.7 0.666666667 BLB 3 91759 Simple 80358468 C . CI 1 5 "not specified(LB);Hereditary cancer-predisposing syndrome(LB);Breast-ovarian cancer, familial 2(US);Hereditary breast and ovarian cancer syndrome(LB);not provided(US)" 11/13/2017 -9.24 1.2 BLB 3 91799 Simple 398122764 C . CI 1 4 Hereditary cancer-predisposing syndrome(LB);not specified(LB);Hereditary breast and ovarian cancer syndrome(US);Hereditary cancer-predisposing syndrome(LB) 12/24/2017 -9 0.75 BLB 3 92292 Simple 387906252 - . CI 1 4 Very long chain acyl-CoA dehydrogenase deficiency(LP);Very long chain acyl-CoA dehydrogenase deficiency(P);not provided(P);Very long chain acyl-CoA dehydrogenase deficiency(US) 4/26/2017 11.7 2.5 PLP 3 92311 Simple 117195882 T . CI 1 2 Primary hyperoxaluria(LB);not specified(B) 6/14/2016 -8.4 1.5 BLB 3 92312 Simple 34664134 A . CI 1 2 Primary hyperoxaluria(LB);not specified(B) 6/14/2016 -8.4 1.5 BLB 3 92339 Simple 3797704 G . CI 1 6 not specified(US);Familial adenomatous polyposis 1(B);not specified(B);Hereditary cancer-predisposing syndrome(LB);not specified(LB);Hereditary cancer-predisposing syndrome(B) 11/9/2017 -21.48 2.666666667 BLB 3 92388 Simple 61733679 T . CI 1 5 not specified(B);Wilson disease(US);Wilson disease(B);not provided(LB);not specified(LB) 1/12/2018 -15.9 1.4 BLB 3 92389 Simple 148399850 T . CI 1 5 not specified(B);not specified(LB);Wilson disease(US);not specified(LB);Wilson disease(B) 1/10/2018 -15.27 2.2 BLB 3 92400 Simple 398123139 A . CI 1 3 not specified(US);not provided(LP);not specified(P) 3/14/2017 8.82 2.333333333 PLP 3 92413 Simple 115311625 A . CI 1 3 "not specified(B);not specified(B);Limb-girdle muscular dystrophy, type 2A(B)" 12/18/2017 -15 2.333333333 BLB 3 92419 Simple 28364364 A . CI 1 5 "Limb-Girdle Muscular Dystrophy, Recessive(US);Limb-girdle muscular dystrophy, type 2A(US);not specified(B);Limb-girdle muscular dystrophy, type 2A(B);not specified(B)" 12/21/2017 -16.2 1.6 BLB 3 92447 Simple 398123159 T . CI 1 5 not specified(US);not provided(LP);Hereditary cancer-predisposing syndrome(LP);Fumarase deficiency(LP);Multiple cutaneous leiomyomas(P) 9/22/2017 14.82 1.4 P 3 92493 Simple 11300320 - . CI 1 4 not specified(B);Galactosylceramide beta-galactosidase deficiency(B);not specified(B);not provided(B) 1/31/2018 -22.2 1.5 BLB 3 92576 Simple 398123230 A . CI 1 7 not specified(US);Hereditary cancer-predisposing syndrome(LB);Hereditary nonpolyposis colon cancer(LB);Lynch syndrome(US);not specified(LB);Lynch syndrome(US);not specified(US) 1/30/2018 -10.08 1.142857143 BLB 3 92595 Simple 142348718 A . CI 1 6 not specified(B);LCHAD Deficiency(US);Mitochondrial trifunctional protein deficiency(US);Trifunctional protein deficiency with myopathy and neuropathy(B);Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency(B);not provided(B);not specified(LB) 11/16/2017 -19.2 1.5 BLB 3 92627 Simple 11934801 C . CI 1 5 not specified(B);not specified(US);Mucopolysaccharidosis type I(LB);not provided(B);Mucopolysaccharidosis type I(B) 10/24/2017 -20.07 1.4 BLB 3 92665 Simple 145400590 C . CI 1 5 not specified(B);Hereditary nonpolyposis colon cancer(B);not specified(B);Hereditary cancer-predisposing syndrome(US);not specified(B) 1/3/2018 -20.67 2.2 BLB 3 92682 Simple 150642856 A . CI 1 4 not specified(B);Methylmalonic acidemia(US);not specified(B);Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency(B) 12/6/2017 -14.7 2.25 BLB 3 92725 Simple 61752971 G . CI 1 3 not specified(LB);not specified(B);Lowe syndrome(B) 11/13/2017 -14.7 1 BLB 3 92769 Simple 62295357 C . CI 1 3 "not specified(B);Retinitis Pigmentosa, Recessive(LB);not specified(LB)" 5/31/2017 -10.2 2 BLB 3 92817 Simple 398123319 TT . CI 1 2 not specified(B);Hereditary cancer-predisposing syndrome(B) 5/26/2017 -9.6 3 BLB 3 92847 Simple 144254383 A . CI 1 4 "not specified(US);Pigmentary retinal dystrophy(LB);Retinitis Pigmentosa, Recessive(LB);Newfoundland rod-cone dystrophy(LB)" 6/14/2016 -9.21 1.75 BLB 3 92885 Simple 140349036 G . CI 1 5 "not specified(LB);not specified(US);not specified(B);Neuronal Ceroid-Lipofuscinosis, Recessive(US);Neuronal ceroid lipofuscinosis(B)" 1/12/2018 -12.54 2.4 BLB 3 92924 Simple 36021462 T . CI 1 4 not specified(US);not specified(LB);not provided(B);Spastic paraplegia(B) 8/18/2017 -14.94 1.5 BLB 3 92939 Simple 141363186 G . CI 1 5 not specified(US);not specified(LB);not specified(US);not specified(US);Laminin alpha 2-related dystrophy(B) 1/9/2018 -9.81 1.2 BLB 3 92945 Simple 149753273 G . CI 1 5 "not specified(US);Congenital Muscular Dystrophy, LAMA2-related(US);not specified(LB);not specified(LB);Laminin alpha 2-related dystrophy(B)" 12/4/2017 -12.51 1.4 BLB 3 92953 Simple 17741922 G . CI 1 3 "not specified(B);Congenital Muscular Dystrophy, LAMA2-related(US);not specified(B)" 6/14/2016 -9.9 2.333333333 BLB 3 93021 Simple 200006106 A . CI 1 3 "not specified(B);not specified(LB);Epidermolysa bullosa simplex and limb girdle muscular dystrophy(B);Epidermolysis bullosa simplex, Ogna type(B);Epidermolysis bullosa simplex with pyloric atresia(B);Limb-girdle muscular dystrophy, type 2Q(B);Epidermolysis bullosa simplex with nail dystrophy(B)" 1/11/2018 -14.4 0.666666667 BLB 3 93027 Simple 113137721 A . CI 1 3 "not specified(B);Epidermolysa bullosa simplex and limb girdle muscular dystrophy(B);Epidermolysis bullosa simplex, Ogna type(B);Epidermolysis bullosa simplex with pyloric atresia(B);Limb-girdle muscular dystrophy, type 2Q(B);Epidermolysis bullosa simplex with nail dystrophy(B);not specified(LB)" 12/19/2017 -14.4 0.666666667 BLB 3 93038 Simple 35671527 CC . CI 1 2 not specified(B);not specified(B) 3/16/2018 -10.8 1.5 BLB 3 93106 Simple 145430946 A . CI 1 3 not specified(B);Zellweger syndrome(US);Zellweger syndrome(B) 9/24/2017 -9.9 2 BLB 3 93151 Simple 60887846 G . CI 1 4 not specified(LB);not specified(B);Cystic fibrosis(B);not provided(US) 12/5/2017 -12.9 1.75 BLB 3 93238 Simple 140689610 A . CI 1 7 "Malignant hyperthermia susceptibility(LB);Neuromuscular disease, congenital, with uniform type 1 fiber(LB);Central core disease(LB);Multiminicore Disease(LB);RYR1-Related Disorders(B);not specified(LB);not specified(US)" 2/28/2018 -21.27 0.857142857 BLB 3 93249 Simple 193922854 C . CI 1 10 "not specified(LB);Malignant hyperthermia(US);Central core disease(LB);Neuromuscular disease, congenital, with uniform type 1 fiber(LB);Malignant hyperthermia susceptibility(LB);Multiminicore Disease(LB);Malignant hyperthermia, susceptibility to, 1(US);not specified(B);not specified(US);RYR1-Related Disorders(LB)" 1/19/2018 -24.51 1.2 BLB 3 93252 Simple 150396398 C . CI 1 9 "Malignant hyperthermia, susceptibility to, 1(US);Malignant hyperthermia, susceptibility to, 1(B);Malignant hyperthermia(LB);Malignant hyperthermia susceptibility(LB);Congenital muscular dystrophy(US);Generalized muscle weakness(US);EMG: myopathic abnormalities(US);Dysplasia of acetabulum(US);not specified(LB);not specified(US);RYR1-Related Disorders(B);not provided(US)" 3/8/2018 -19.74 1.555555556 BLB 3 93255 Simple 118126378 A . CI 1 8 "Neuromuscular disease, congenital, with uniform type 1 fiber(LB);Multiminicore Disease(LB);Central core disease(LB);Malignant hyperthermia susceptibility(LB);not specified(LB);RYR1-Related Disorders(B);not specified(LB);not specified(US)" 1/12/2018 -23.67 1.125 BLB 3 93269 Simple 137933390 G . CI 1 10 "not specified(LB);Malignant hyperthermia, susceptibility to, 1(B);Neuromuscular disease, congenital, with uniform type 1 fiber(LB);Multiminicore Disease(LB);Malignant hyperthermia susceptibility(LB);Central core disease(LB);not specified(US);not provided(US);not specified(US);RYR1-Related Disorders(LB)" 2/5/2018 -23.07 1.2 BLB 3 93283 Simple 146617004 T . CI 1 6 "not specified(US);Central core disease(LB);Multiminicore Disease(LB);Neuromuscular disease, congenital, with uniform type 1 fiber(LB);Malignant hyperthermia susceptibility(LB);not specified(LB)" 11/4/2016 -15.27 1.166666667 BLB 3 93290 Simple 114975624 A . CI 1 8 "Malignant hyperthermia susceptibility(LB);Neuromuscular disease, congenital, with uniform type 1 fiber(LB);Multiminicore Disease(LB);Central core disease(LB);not specified(B);RYR1-Related Disorders(B);not specified(B);not provided(US)" 1/26/2018 -28.38 1.75 B 3 93310 Simple 72896268 T . CI 1 3 "not specified(B);Sphingomyelin/cholesterol lipidosis(US);Niemann-Pick disease, type B(B);Niemann-Pick disease, type A(B)" 12/26/2017 -10.5 1.666666667 BLB 3 93393 Simple 200330469 T . CI 1 4 not specified(US);Long QT syndrome(B);Cardiovascular phenotype(LB);not specified(B) 12/21/2017 -13.71 2.25 BLB 3 93399 Simple 112532048 T . CI 1 5 Long QT syndrome(B);not specified(US);Brugada syndrome(LB);Timothy syndrome(LB);Cardiovascular phenotype(B) 12/29/2017 -18.27 0.8 BLB 3 93402 Simple 56394008 T . CI 1 5 Brugada syndrome(LB);Timothy syndrome(LB);Long QT syndrome(B);Cardiovascular phenotype(LB);not specified(US) 1/5/2018 -15.21 1.4 BLB 3 93403 Simple 201258230 A . CI 1 5 not specified(US);Long QT syndrome(B);Timothy syndrome(LB);Brugada syndrome(LB);Cardiovascular phenotype(LB) 12/27/2017 -15 1 BLB 3 93411 Simple 201492706 G . CI 1 7 not specified(LB);not provided(LB);Long QT syndrome(LB);Brugada syndrome(LB);Timothy syndrome(LB);not specified(US);not provided(LB) 1/9/2018 -17.34 1.428571429 BLB 3 93419 Simple 112414325 A . CI 1 8 not specified(B);not provided(LB);Long QT syndrome(B);Cardiovascular phenotype(B);Brugada syndrome(LB);Timothy syndrome(LB);not specified(B);not provided(LB) 1/5/2018 -34.8 1.375 B 3 93457 Simple 61748906 G . CI 1 2 "Gaucher's disease, type 1(P);Gaucher disease(P)" 6/30/2017 9.6 2.5 PLP 3 93465 Simple 112350099 A . CI 1 4 not specified(B);not specified(B);Ciliary dyskinesia(US);Ciliary dyskinesia(B) 9/29/2017 -13.5 2.75 BLB 3 93505 Simple 145967477 A . CI 1 5 "not specified(LB);not specified(B);Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive(US);Neuronal ceroid lipofuscinosis(B);not specified(LB)" 7/27/2017 -15.3 2 BLB 3 93517 Simple 41277797 T . CI 1 8 "not specified(B);not specified(B);not specified(B);Dilated Cardiomyopathy, Recessive(US);Fukuyama congenital muscular dystrophy(US);Walker-Warburg congenital muscular dystrophy(B);not specified(B);Cardiovascular phenotype(B)" 8/4/2017 -32.4 1.625 B 3 93518 Simple 146951171 A . CI 1 5 not specified(LB);not provided(US);not specified(LB);Walker-Warburg congenital muscular dystrophy(LB);Cardiovascular phenotype(LB) 12/29/2017 -11.91 1.2 BLB 3 93533 Simple 75714509 G . CI 1 5 not specified(B);Joubert syndrome(B);Meckel-Gruber syndrome(B);Joubert syndrome(US);not provided(LB);not specified(B) 1/5/2018 -19.5 1 BLB 3 93539 Simple 35811023 G . CI 1 6 not specified(B);not specified(LB);Primary Microcephaly 2 With or Without Cortical Malformations(US);not provided(LB);not specified(LB);not specified(LB) 2/5/2018 -16.5 1.333333333 BLB 3 93560 Simple 375628894 T . CI 1 3 "not specified(US);not specified(LB);Episodic ataxia type 2(B);Epileptic encephalopathy, early infantile, 42(B)" 12/13/2017 -9.21 1.666666667 BLB 3 93584 Simple 55640811 T . CI 1 4 not specified(US);not specified(B);not specified(US);Pitt-Hopkins-like syndrome 2(B) 9/16/2017 -10.71 2.25 BLB 3 93590 Simple 147984237 C . CI 1 5 not specified(B);not specified(B);Pitt-Hopkins-like syndrome(US);Pitt-Hopkins-like syndrome 2(B);not specified(LB) 12/8/2017 -18.9 1.6 BLB 3 93591 Simple 115211871 A . CI 1 6 not specified(B);not specified(B);not specified(B);Pitt-Hopkins-like syndrome 2(B);Pitt-Hopkins-like syndrome(US);not specified(B) 1/3/2018 -25.5 2.166666667 BLB 3 93593 Simple 192909520 T . CI 1 4 not specified(US);not specified(B);Pitt-Hopkins-like syndrome(US);Pitt-Hopkins-like syndrome 2(B) 12/15/2016 -10.68 2.75 BLB 3 93597 Simple 56402642 A . CI 1 5 not specified(US);not specified(B);Pitt-Hopkins-like syndrome 2(LB);not specified(LB);not specified(LB) 1/2/2018 -12.84 2 BLB 3 93626 Simple 114137271 G . CI 1 6 not specified(B);not specified(B);not specified(US);Seizure Disorders(LB);Familial hemiplegic migraine(LB);Early infantile epileptic encephalopathy(B) 12/27/2017 -21.84 1.833333333 BLB 3 93655 Simple 145296488 G . CI 1 5 not specified(LB);not specified(B);Seizure Disorders(US);Familial hemiplegic migraine(US);Early infantile epileptic encephalopathy(B) 12/4/2017 -12.9 1.8 BLB 3 93672 Simple 192354176 T . CI 1 6 not specified(B);not specified(B);Early infantile epileptic encephalopathy 9(US);Early infantile epileptic encephalopathy 9(B);not specified(B);not specified(B) 12/8/2017 -24.81 2.833333333 BLB 3 93675 Simple 191333060 C . CI 1 7 not specified(LB);Early infantile epileptic encephalopathy 9(US);not specified(LB);not specified(US);not provided(LB);Early infantile epileptic encephalopathy 9(LB);not specified(B) 2/1/2018 -17.82 1.714285714 BLB 3 93709 Simple 139721775 A . CI 1 3 not specified(B);Smith-Lemli-Opitz syndrome(B);not provided(LB) 12/27/2017 -12.6 2 BLB 3 93727 Simple 188638970 A . CI 1 3 not specified(B);Ciliary dyskinesia(US);Ciliary dyskinesia(B) 12/13/2017 -12.3 0.666666667 BLB 3 93750 Simple 202181557 A . CI 1 5 "Periventricular nodular heterotopia 1(US);not specified(B);Periventricular nodular heterotopia 1(B);Melnick-Needles syndrome(B);Oto-palato-digital syndrome, type II(B);Frontometaphyseal dysplasia(B);not specified(B);not specified(B)" 12/21/2017 -20.04 2.6 BLB 3 93757 Simple 398123617 T . CI 1 5 "not specified(US);not specified(US);not provided(LB);not specified(B);Periventricular nodular heterotopia 1(B);Melnick-Needles syndrome(B);Oto-palato-digital syndrome, type II(B);Frontometaphyseal dysplasia(B)" 10/16/2017 -15.45 1.4 BLB 3 93812 Simple 143438559 A . CI 1 4 not specified(US);Collagen VI-related myopathy(LB);not specified(LB);Bethlem myopathy 1(LB) 10/19/2017 -9.3 0.5 BLB 3 93863 Simple 150432347 T . CI 1 4 not specified(LB);Collagen VI-related myopathy(LB);Bethlem myopathy 1(US);not specified(LB) 1/16/2018 -9.3 0.5 BLB 3 93882 Simple 398123638 G . CI 1 4 not specified(US);Collagen VI-related myopathy(LB);Bethlem myopathy 1(B);not specified(LB) 2/12/2018 -12.27 0.75 BLB 3 93920 Simple 142709940 T . CI 1 5 not specified(LB);not specified(LB);Collagen VI-related myopathy(LB);Myosclerosis(LB);Bethlem myopathy 1(US) 1/3/2018 -11.7 1 BLB 3 93927 Simple 201879417 A . CI 1 5 not specified(US);not specified(US);Myosclerosis(LB);Collagen VI-related myopathy(LB);Bethlem myopathy 1(LB) 12/7/2017 -9.6 0.4 BLB 3 93960 Simple 140404854 G . CI 1 5 not specified(US);Myosclerosis(LB);Collagen VI-related myopathy(LB);Bethlem myopathy 1(LB);not specified(LB) 9/18/2017 -12.27 0.8 BLB 3 93968 Simple 56230601 C . CI 1 4 "not specified(US);Marshall syndrome(LB);Stickler Syndrome, Dominant(LB);Fibrochondrogenesis(LB)" 6/14/2016 -9.21 1.75 BLB 3 94033 Simple 144052152 C . CI 1 4 "not specified(US);Congenital Muscular Dystrophy, ITGA7-related(US);Muscular dystrophy, congenital, due to integrin alpha-7 deficiency(B);not specified(LB)" 1/23/2018 -9.48 1.5 BLB 3 94036 Simple 7971022 G . CI 1 4 "not specified(B);Congenital Muscular Dystrophy, ITGA7-related(US);not specified(B);Muscular dystrophy, congenital, due to integrin alpha-7 deficiency(B)" 8/11/2017 -15.3 2 BLB 3 94039 Simple 79745402 T . CI 1 5 "Congenital Muscular Dystrophy, ITGA7-related(US);not specified(B);not specified(B);Muscular dystrophy, congenital, due to integrin alpha-7 deficiency(B);not specified(B)" 12/15/2017 -21.9 1.6 BLB 3 94041 Simple 144983062 T . CI 1 4 "not specified(B);not specified(B);not specified(US);Muscular dystrophy, congenital, due to integrin alpha-7 deficiency(B)" 1/4/2018 -16.47 1.5 BLB 3 94047 Simple 74867235 T . CI 1 4 "not specified(B);Congenital Muscular Dystrophy, ITGA7-related(US);not specified(B);Muscular dystrophy, congenital, due to integrin alpha-7 deficiency(B)" 8/11/2017 -15.3 2 BLB 3 94058 Simple 138427412 A . CI 1 3 not specified(LB);Isovaleryl-CoA dehydrogenase deficiency(US);Isovaleryl-CoA dehydrogenase deficiency(B) 7/12/2016 -9.3 1 BLB 3 94065 Simple 116933453 T . CI 1 4 not specified(B);Congenital disorder of glycosylation(US);Congenital disorder of glycosylation type 1B(B);not specified(LB) 2/6/2018 -12.9 1.75 BLB 3 94072 Simple 117089191 T . CI 1 5 not specified(B);not provided(LB);Congenital disorder of glycosylation(US);not specified(LB);Congenital disorder of glycosylation type 1B(B) 11/2/2017 -15.6 1.8 BLB 3 94074 Simple 143713841 T . CI 1 4 not specified(US);not specified(LB);not provided(LB);not specified(B) 2/18/2016 -10.74 2.5 BLB 3 94090 Simple 4369876 A . CI 1 10 "Generalized epilepsy with febrile seizures plus(B);Familial Febrile Seizures(B);Inherited Erythromelalgia(B);Small fiber neuropathy(B);Paroxysmal extreme pain disorder(B);Severe myoclonic epilepsy in infancy(B);Congenital Indifference to Pain(B);Hereditary sensory and autonomic neuropathy type IIA(B);Generalized epilepsy with febrile seizures plus, type 7(B);not specified(B);Primary erythromelalgia(US)" 8/22/2017 -52.47 1.3 B 3 94115 Simple 140332992 G . CI 1 4 not specified(US);not specified(US);Early infantile epileptic encephalopathy 2(B);Angelman syndrome-like(B);not specified(LB) 8/28/2017 -9.51 1.25 BLB 3 94162 Simple 199895011 T . CI 1 4 not specified(B);Kabuki syndrome 1(US);not provided(LB);Kabuki syndrome(LB) 6/14/2016 -9.51 3 BLB 3 94238 Simple 202085637 T . CI 1 7 not specified(B);Kabuki syndrome 1(US);Kabuki syndrome(LB);not specified(LB);not specified(B);Kabuki syndrome 1(US);Kabuki syndrome(B) 12/27/2017 -22.11 1.714285714 BLB 3 94283 Simple 115849497 A . CI 1 5 "Miyoshi myopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);not specified(B);Dysferlinopathy(B);not specified(B)" 1/3/2018 -16.8 1.4 BLB 3 94307 Simple 79899601 T . CI 1 5 "not specified(B);Miyoshi myopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);not specified(B);Dysferlinopathy(B)" 1/11/2018 -18 1 BLB 3 94311 Simple 34997054 A . CI 1 6 not specified(B);not specified(B);Muscular dystrophy(LP);Dysferlinopathy(B);Inborn genetic diseases(B);not specified(B) 1/11/2018 -24 1.5 BLB 3 94323 Simple 145690047 T . CI 1 6 "not specified(LB);Miyoshi myopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);not specified(B);Dysferlinopathy(B);not specified(LB)" 12/4/2017 -18.6 0.666666667 BLB 3 94325 Simple 7573406 T . CI 1 6 "not specified(B);not specified(B);Miyoshi myopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);not specified(B);Dysferlinopathy(B)" 8/3/2017 -21 1.833333333 BLB 3 94328 Simple 62145939 A . CI 1 5 "Miyoshi myopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);not specified(B);Dysferlinopathy(B);not specified(B)" 8/7/2017 -16.2 1.6 BLB 3 94373 Simple 147114577 G . CI 1 3 not specified(US);Joubert syndrome(B);Oral-facial-digital syndrome(B);not specified(LB) 7/11/2017 -9.24 1 BLB 3 94383 Simple 148979783 C . CI 1 4 not specified(US);Myoclonic dystonia(LB);not specified(B);Myoclonic dystonia(B) 8/24/2017 -15.21 1.5 BLB 3 94446 Simple 1800281 A . CI 1 7 not specified(B);not specified(B);not specified(B);Duchenne muscular dystrophy(B);Cardiovascular phenotype(B);Dilated cardiomyopathy 3B(US);not specified(B) 1/5/2018 -30.9 2.142857143 B 3 94478 Simple 150199251 A . CI 1 4 not specified(US);not specified(LB);Cardiovascular phenotype(US);Duchenne muscular dystrophy(B) 1/3/2018 -9.57 1 BLB 3 94480 Simple 140919039 A . CI 1 4 not specified(US);Duchenne muscular dystrophy(LB);not specified(LB);Cardiovascular phenotype(LB) 10/10/2017 -9.3 0.5 BLB 3 94481 Simple 376024929 T . CI 1 3 not specified(US);not specified(LB);Duchenne muscular dystrophy(B) 6/28/2017 -9.27 1 BLB 3 94513 Simple 72468680 G . CI 1 3 not specified(US);not specified(B);Duchenne muscular dystrophy(B) 12/7/2017 -11.07 1.666666667 BLB 3 94588 Simple 201297190 C . CI 1 3 not specified(US);Duchenne muscular dystrophy(B);not specified(B) 1/6/2018 -12.24 1.333333333 BLB 3 94600 Simple 193249735 C . CI 1 5 not specified(B);not specified(B);Duchenne muscular dystrophy(B);Dilated cardiomyopathy 3B(US);not specified(B) 1/3/2018 -20.7 2 BLB 3 94608 Simple 143184877 A . CI 1 6 not specified(LB);not specified(LB);Cardiovascular phenotype(US);not specified(B);Duchenne muscular dystrophy(B);not specified(B) 1/1/2018 -23.37 1.5 BLB 3 94637 Simple 398123965 T . CI 1 4 Dilated cardiomyopathy 3B(US);not specified(LB);not specified(LB);Duchenne muscular dystrophy(LB) 1/30/2018 -9.3 0.5 BLB 3 94655 Simple 200887855 A . CI 1 3 not specified(US);not specified(LB);Duchenne muscular dystrophy(B) 12/28/2017 -9 1 BLB 3 94674 Simple 200025478 T . CI 1 4 not specified(LB);Dilated cardiomyopathy 3B(US);not specified(B);Duchenne muscular dystrophy(LB) 10/27/2017 -11.4 1.25 BLB 3 94675 Simple 142441725 T . CI 1 6 not specified(LB);not specified(LB);not specified(LB);Dilated cardiomyopathy 3B(US);Duchenne muscular dystrophy(B);Cardiovascular phenotype(LB) 12/4/2017 -17.4 1.333333333 BLB 3 94756 Simple 185706283 T . CI 1 5 not specified(B);Dilated cardiomyopathy 3B(US);Duchenne muscular dystrophy(B);not specified(LB);Cardiovascular phenotype(B) 10/18/2017 -20.7 0.8 BLB 3 94809 Simple 72466570 G . CI 1 5 not specified(B);not specified(B);Duchenne muscular dystrophy(B);Dilated cardiomyopathy 3B(US);Cardiovascular phenotype(LB) 12/8/2017 -16.8 2.4 BLB 3 94816 Simple 116283249 A . CI 1 4 not specified(US);not specified(LB);Cardiovascular phenotype(LB);Duchenne muscular dystrophy(LB) 11/15/2017 -9.3 0.25 BLB 3 94919 Simple 113066678 A . CI 1 4 not specified(B);Collagen VI-related myopathy(LB);not specified(LB);Bethlem myopathy 1(B) 3/16/2018 -15.6 1.5 BLB 3 94947 Simple 113153193 T . CI 1 4 not specified(B);not provided(US);Collagen VI-related myopathy(LB);not specified(US) 9/14/2017 -9.54 1.25 BLB 3 95026 Simple 61753381 T . CI 1 6 not specified(B);not specified(US);not provided(B);Rubinstein-Taybi syndrome(B);not specified(B);not specified(B) 1/30/2018 -25.44 2.333333333 BLB 3 95056 Simple 199990883 T . CI 1 5 not specified(B);Rubinstein-Taybi syndrome(US);not specified(B);not provided(B);Rubinstein-Taybi syndrome(B) 11/8/2017 -21.18 2.6 BLB 3 95100 Simple 141100113 T . CI 1 4 not specified(US);not specified(LB);Wilms tumor 1(B);not provided(LB) 12/7/2017 -11.88 2 BLB 3 95107 Simple 117178114 A . CI 1 5 "not specified(US);not specified(B);Nemaline Myopathy, Recessive(US);not specified(LB);Nemaline myopathy 2(B)" 12/14/2017 -15.51 1.4 BLB 3 95110 Simple 182847302 T . CI 1 4 "not specified(B);Nemaline Myopathy, Recessive(US);not specified(LB);Nemaline myopathy 2(B)" 1/9/2018 -13.5 1.25 BLB 3 95124 Simple 184319249 C . CI 1 5 "not specified(US);not specified(US);Nemaline Myopathy, Recessive(US);Nemaline myopathy 2(B);not specified(LB)" 2/15/2018 -9.75 1.6 BLB 3 95135 Simple 35292878 T . CI 1 4 "not specified(B);Nemaline Myopathy, Recessive(US);not specified(LB);Nemaline myopathy 2(B)" 11/27/2017 -12.9 1.5 BLB 3 95141 Simple 75639119 T . CI 1 5 "not specified(B);not specified(B);Nemaline Myopathy, Recessive(US);Nemaline myopathy 2(B);not specified(B)" 12/20/2017 -22.5 1.2 BLB 3 95171 Simple 1046166 T . CI 1 7 "not specified(B);not specified(B);not specified(B);Congenital Muscular Dystrophy, alpha-dystroglycan related(US);Walker-Warburg Syndrome(US);not specified(US);Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6(B)" 1/4/2018 -20.7 1.857142857 BLB 3 95173 Simple 398124184 G . CI 1 6 "not specified(B);Muscular dystrophy(US);Congenital Muscular Dystrophy, alpha-dystroglycan related(US);Walker-Warburg Syndrome(US);not specified(LB);Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6(B)" 10/10/2017 -15.21 1.5 BLB 3 95187 Simple 56268439 T . CI 1 5 not specified(B);not specified(B);not specified(LB);not provided(LB);Severe neonatal-onset encephalopathy with microcephaly(B) 11/30/2017 -21 1.8 BLB 3 95218 Simple 56342240 C . CI 1 5 "not specified(LB);not specified(LB);not specified(US);not specified(US);Lissencephaly 2(LB);Epilepsy, familial temporal lobe, 7(LB)" 12/27/2017 -9 1.2 BLB 3 95225 Simple 114019779 A . CI 1 5 "not specified(B);not specified(B);Lissencephaly, Recessive(US);not specified(LB);Lissencephaly 2(B);Epilepsy, familial temporal lobe, 7(B)" 12/7/2017 -17.4 2.2 BLB 3 95229 Simple 150236371 T . CI 1 4 "not specified(LB);not specified(US);Lissencephaly 2(B);Epilepsy, familial temporal lobe, 7(B);not specified(LB)" 11/27/2017 -12 1 BLB 3 95265 Simple 398124201 AGCAGC . CI 1 4 "not provided(US);not specified(LB);Rett syndrome, congenital variant(LB);Rett syndrome, congenital variant(LB)" 12/19/2017 -8.58 2.25 BLB 3 95283 Simple 200303699 T . CI 1 3 not specified(US);not specified(LB);Brugada syndrome 8(B) 11/17/2017 -9.21 1.666666667 BLB 3 95299 Simple 116315896 T . CI 1 2 not specified(B);not specified(B) 10/31/2017 -9.6 3 BLB 3 95322 Simple 55814513 A . CI 1 7 "not specified(B);not provided(US);not specified(B);not specified(B);WFS1-Related Spectrum Disorders(LB);Nonsyndromic Hearing Loss, Dominant(LB);not specified(B)" 6/30/2017 -26.01 2.428571429 BLB 3 95358 Simple 142032474 T . CI 1 6 not specified(B);not specified(B);Congenital disorder of glycosylation(US);not specified(B);not provided(LB);Congenital disorder of glycosylation type 2B(B) 1/15/2018 -24.3 1.666666667 BLB 3 95388 Simple 36023150 T . CI 1 3 "not specified(B);Congenital dyserythropoietic anemia(LB);Congenital dyserythropoietic anemia, type II(B);Cowden syndrome 7(B)" 5/11/2017 -13.8 1.666666667 BLB 3 95393 Simple 149903512 T . CI 1 3 not specified(US);not provided(B);not specified(B) 2/6/2017 -11.7 1.333333333 BLB 3 95417 Simple 78388808 A . CI 1 7 "not specified(US);not specified(B);GLUT1 deficiency syndrome 1(US);Glucose transporter type 1 deficiency syndrome(LB);Dystonia(LB);GLUT1 deficiency syndrome 1, autosomal recessive(B);not specified(LB)" 11/14/2017 -19.74 1.571428571 BLB 3 95421 Simple 145061343 G . CI 1 3 not specified(US);Spastic paraplegia(B);not provided(LB) 3/7/2017 -8.64 2 BLB 3 95458 Simple 139687326 T . CI 1 5 "Limb-Girdle Muscular Dystrophy, Recessive(US);not specified(LB);not specified(LB);Limb-girdle muscular dystrophy-dystroglycanopathy, type C1(B);Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1(B);Walker-Warburg congenital muscular dystrophy(B);not specified(B)" 11/13/2017 -15.9 1.4 BLB 3 95459 Simple 117985576 A . CI 1 6 "not provided(US);not specified(LB);Limb-girdle muscular dystrophy-dystroglycanopathy, type C1(US);Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1(US);Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1(US);Limb-girdle muscular dystrophy-dystroglycanopathy, type C1(LB);Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1(LB);Walker-Warburg congenital muscular dystrophy(LB);not specified(LB);not specified(US)" 1/9/2018 -9.57 1 BLB 3 95462 Simple 76092524 A . CI 1 4 "not specified(B);Limb-Girdle Muscular Dystrophy, Recessive(US);not specified(LB);Limb-girdle muscular dystrophy-dystroglycanopathy, type C1(B);Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1(B);Walker-Warburg congenital muscular dystrophy(B)" 11/10/2017 -15.3 0.5 BLB 3 95476 Simple 3739203 A . CI 1 8 not specified(B);not specified(B);not specified(B);Early infantile epileptic encephalopathy 12(B);Epileptic encephalopathy(US);not specified(LB);Early infantile epileptic encephalopathy 10(B);Early infantile epileptic encephalopathy 10(B) 1/8/2018 -32.1 2.375 B 3 95480 Simple 116192442 A . CI 1 4 not specified(US);not specified(B);not specified(LB);Early infantile epileptic encephalopathy 12(B) 12/9/2017 -13.5 1.5 BLB 3 95481 Simple 142199280 T . CI 1 4 not specified(LB);not specified(B);Early infantile epileptic encephalopathy 10(US);Early infantile epileptic encephalopathy 12(B) 9/1/2017 -12.51 2.75 BLB 3 95484 Simple 145904995 T . CI 1 5 not specified(B);not specified(B);not specified(LB);Epileptic encephalopathy(US);Early infantile epileptic encephalopathy 12(B) 12/19/2017 -17.7 2.2 BLB 3 95489 Simple 148491228 T . CI 1 5 not specified(LB);not specified(B);not specified(LB);Early infantile epileptic encephalopathy 12(LB);Epileptic encephalopathy(US) 12/28/2017 -12.6 2 BLB 3 95506 Simple 398124255 AA . CI 1 4 "Short Rib Polydactyly Syndrome(LB);not specified(B);not specified(B);Short rib-polydactyly syndrome, Majewski type(B)" 3/17/2018 -19.8 1.25 BLB 3 95522 Simple 75279884 G . CI 1 3 "not specified(B);Cutis laxa, recessive(US);not specified(B)" 7/12/2016 -9.9 2.333333333 BLB 3 95528 Simple 116660078 C . CI 1 3 not specified(B);Congenital disorder of glycosylation(US);not specified(B) 6/14/2016 -9.3 2.666666667 BLB 3 95565 Simple 148104020 A . CI 1 4 not specified(B);not specified(B);not specified(US);Cortical dysplasia-focal epilepsy syndrome(B) 12/14/2017 -14.04 3 BLB 3 95571 Simple 142426153 TTCTTTCT . CI 1 5 not specified(B);not provided(US);not specified(B);not specified(B);Cortical dysplasia-focal epilepsy syndrome(B) 4/28/2017 -18.81 3.4 BLB 3 95577 Simple 142984073 T . CI 1 6 not specified(B);not specified(LB);not specified(B);Pitt-Hopkins-like syndrome(US);Cortical dysplasia-focal epilepsy syndrome(US);Cortical dysplasia-focal epilepsy syndrome(B) 1/8/2018 -18.3 1.833333333 BLB 3 95582 Simple 62653020 A . CI 1 5 "Leber congenital amaurosis(US);Retinitis Pigmentosa, Recessive(US);Retinitis Pigmentosa, Dominant(US);Leber congenital amaurosis 4(B);not specified(B)" 6/4/2017 -12.9 0.8 BLB 3 95583 Simple 62637017 G . CI 1 4 "not specified(US);Leber congenital amaurosis(LB);Retinitis Pigmentosa, Recessive(LB);Retinitis Pigmentosa, Dominant(LB)" 6/14/2016 -9.18 2 BLB 3 95589 Simple 113488591 G . CI 1 3 not specified(B);not specified(US);Deficiency of isobutyryl-CoA dehydrogenase(B) 7/14/2017 -12.3 0.333333333 BLB 3 95600 Simple 41312220 G . CI 1 3 not specified(B);Nephronophthisis(B);Nephronophthisis(US) 1/4/2018 -10.5 1.666666667 BLB 3 95644 Simple 148171062 T . CI 1 5 not specified(B);not specified(B);Congenital disorder of glycosylation(US);not specified(LB);Congenital disorder of glycosylation type 1M(B) 12/6/2017 -18.3 1.6 BLB 3 95654 Simple 80090788 A . CI 1 5 "not specified(B);not specified(B);Primary Microcephaly, Recessive(US);Seckel syndrome(US);not specified(LB)" 10/20/2017 -13.2 1.6 BLB 3 95681 Simple 41280800 G . CI 1 4 not specified(B);Renal dysplasia and retinal aplasia(US);Nephronophthisis(US);Nephronophthisis(B) 7/14/2017 -10.2 1.75 BLB 3 95682 Simple 139767853 A . CI 1 5 not specified(LB);Nephronophthisis(US);Renal dysplasia and retinal aplasia(US);not specified(US);Nephronophthisis(B) 7/11/2017 -9.87 1 BLB 3 95685 Simple 115526767 A . CI 1 4 not specified(B);Nephronophthisis(B);Renal dysplasia and retinal aplasia(US);Nephronophthisis(US) 7/11/2017 -10.2 1.75 BLB 3 95688 Simple 28390202 T . CI 1 3 not specified(US);not specified(LB);Early infantile epileptic encephalopathy 12(B) 12/28/2017 -8.7 1.333333333 BLB 3 95691 Simple 144313291 C . CI 1 7 Meckel-Gruber syndrome(US);Nephronophthisis(US);Joubert syndrome(US);not specified(B);Joubert syndrome(B);Meckel-Gruber syndrome(B);not specified(B);not specified(B) 5/29/2017 -21.9 1.714285714 BLB 3 95696 Simple 113455884 T . CI 1 5 not specified(B);Congenital disorder of glycosylation(US);not provided(LB);not specified(LB);Congenital disorder of glycosylation type 2J(LB) 11/20/2017 -13.5 1.2 BLB 3 95759 Simple 150576537 T . CI 1 7 "Limb-Girdle Muscular Dystrophy, Recessive(US);Congenital Muscular Dystrophy, alpha-dystroglycan related(US);not specified(LB);not specified(LB);not specified(LB);Limb-girdle muscular dystrophy-dystroglycanopathy, type C3(B);Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3(B);not specified(B)" 2/22/2018 -19.8 1.142857143 BLB 3 95778 Simple 16926453 C . CI 1 5 not specified(B);CHARGE association(US);CHARGE association(LB);Hypogonadism with anosmia(LB);CHARGE association(B) 12/4/2017 -16.38 2.2 BLB 3 95801 Simple 199828744 G . CI 1 3 not specified(US);not specified(LB);CHARGE association(B) 12/18/2017 -9.18 2 BLB 3 95805 Simple 113483301 T . CI 1 6 not specified(B);CHARGE association(US);CHARGE association(LB);Hypogonadism with anosmia(LB);CHARGE association(B);not provided(B) 11/19/2017 -22.98 1.833333333 BLB 3 95826 Simple 142476821 A . CI 1 7 not specified(B);not specified(LB);Cohen syndrome(US);not specified(LB);not specified(US);Cohen syndrome(B);not specified(LB) 1/5/2018 -19.5 1.285714286 BLB 3 95845 Simple 61759485 G . CI 1 5 not specified(B);not specified(LB);not specified(LB);not specified(LB);Cohen syndrome(B) 1/2/2018 -18.3 1.6 BLB 3 95874 Simple 113671330 G . CI 1 4 not specified(B);not specified(US);Cohen syndrome(LB);Cohen syndrome(B) 10/26/2016 -14.04 2 BLB 3 95886 Simple 73740379 T . CI 1 5 not specified(B);Epilepsy juvenile absence(B);Juvenile myoclonic epilepsy(B);Juvenile myoclonic epilepsy(US);not provided(LB);not specified(B) 12/5/2017 -19.5 1.4 BLB 3 95889 Simple 41299623 A . CI 1 4 "not specified(B);not specified(B);Primary Microcephaly, Recessive(US);not specified(LB)" 7/3/2017 -11.1 2.5 BLB 3 95899 Simple 114314967 A . CI 1 5 "not specified(B);not specified(B);not specified(LB);Intellectual Disability, Dominant(US);Mental retardation, autosomal dominant 1(LB)" 12/29/2017 -15.6 1.8 BLB 3 95901 Simple 116207524 A . CI 1 5 "not specified(B);not specified(LB);Intellectual Disability, Dominant(US);not specified(LB);Mental retardation, autosomal dominant 1(LB)" 12/7/2017 -12.9 1.2 BLB 3 95954 Simple 398124358 C . CI 1 7 not specified(US);not specified(LB);not specified(LB);Hypertrophic cardiomyopathy(LB);Cardiovascular phenotype(LB);Familial hypertrophic cardiomyopathy 17(B);Familial hypertrophic cardiomyopathy 17(LB) 1/17/2018 -20.01 1.571428571 BLB 3 95960 Simple 149623434 T . CI 1 3 not specified(US);Eichsfeld type congenital muscular dystrophy(B);not specified(LB) 1/23/2018 -9.18 2 BLB 3 96049 Simple 145987330 C . CI 1 6 not specified(B);Sotos syndrome 1(US);Sotos Syndrome(LB);Weaver syndrome(LB);not specified(B);Beckwith-Wiedemann syndrome(B) 6/22/2017 -21.18 2.333333333 BLB 3 96058 Simple 150920473 T . CI 1 4 not specified(B);Sotos syndrome 1(US);Beckwith-Wiedemann syndrome(B);not specified(B) 11/16/2017 -18.18 1.75 BLB 3 96086 Simple 115800498 A . CI 1 5 not specified(B);not provided(LB);Marinesco-Sj??gren syndrome(US);not specified(LB);Marinesco-Sj??gren syndrome(B) 9/29/2017 -15.6 1.8 BLB 3 96093 Simple 61995925 T . CI 1 4 not specified(B);not specified(LB);Congenital disorder of glycosylation(US);Congenital disorder of glycosylation type 1H(B) 6/23/2017 -12.3 2.25 BLB 3 96108 Simple 143793528 G . CI 1 7 "not specified(B);not specified(B);not specified(B);not specified(US);Walker-Warburg congenital muscular dystrophy(B);not specified(B);Limb-girdle muscular dystrophy-dystroglycanopathy, type C5(B)" 8/2/2017 -34.47 1.285714286 B 3 96141 Simple 146125583 T . CI 1 4 not specified(B);not specified(US);Chromosome 9q deletion syndrome(LB);Chromosome 9q deletion syndrome(B) 1/4/2018 -13.44 2 BLB 3 96172 Simple 183655276 G . CI 1 10 Joubert syndrome(US);Meckel-Gruber syndrome(US);Leber congenital amaurosis(US);Renal dysplasia and retinal aplasia(US);Bardet-Biedl syndrome(US);not provided(LB);Joubert syndrome(B);Meckel-Gruber syndrome(B);Nephronophthisis(B);not specified(US);not specified(LB);not specified(US) 12/29/2017 -13.41 1.3 BLB 3 96187 Simple 149716029 - . CI 1 5 not specified(B);not provided(US);not specified(B);not specified(LB);not provided(LB) 9/1/2017 -14.31 2.8 BLB 3 96225 Simple 112926217 T . CI 1 3 not specified(B);Nephronophthisis(US);Nephronophthisis(B) 11/6/2017 -9.9 2 BLB 3 96238 Simple 62562374 G . CI 1 4 "not specified(US);Congenital disorder of glycosylation(US);not specified(LB);Congenital disorder of glycosylation type 1I(B);Myasthenic syndrome, congenital, 14(B)" 2/12/2018 -9.48 1.5 BLB 3 96240 Simple 140575619 A . CI 1 4 not specified(US);not specified(US);Long QT syndrome(LB);not specified(B) 11/13/2017 -9.57 0.5 BLB 3 96242 Simple 55999987 G . CI 1 6 "not specified(US);Vasculopathy, retinal, with cerebral leukodystrophy(LB);Aicardi Goutieres syndrome(LB);not specified(US);not provided(US);Aicardi Goutieres syndrome 1(B);Vasculopathy, retinal, with cerebral leukodystrophy(B);Chilblain lupus erythematosus(B)" 1/8/2018 -12.81 1.333333333 BLB 3 96250 Simple 398124435 A . CI 1 3 "Multiple endocrine neoplasia, type 1(P);Multiple endocrine neoplasia, type 1(US);Hereditary cancer-predisposing syndrome(P)" 6/23/2017 11.1 1 PLP 3 96256 Simple 149506027 A . CI 1 4 not specified(B);not specified(B);not specified(LB);Angelman syndrome(B) 1/8/2018 -18.9 1.75 BLB 3 96260 Simple 79328837 G . CI 1 4 not specified(B);not specified(B);not specified(B);Angelman syndrome(B) 1/3/2018 -23.4 0.75 BLB 3 96263 Simple 61734190 G . CI 1 4 not specified(B);not specified(B);not specified(B);Angelman syndrome(B) 1/12/2018 -20.4 2.25 BLB 3 96264 Simple 28528079 A . CI 1 4 not specified(B);not specified(B);not specified(B);Angelman syndrome(B) 1/12/2018 -20.4 2.25 BLB 3 96274 Simple 71393436 . . CI 1 8 "not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Myopathy, early-onset, with fatal cardiomyopathy(US);Distal myopathy Markesbery-Griggs type(US);Hypertrophic cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Dilated Cardiomyopathy, Dominant(US);Hereditary myopathy with early respiratory failure(US)" 8/8/2017 -13.2 1 BLB 3 96275 Simple 143368674 G . CI 1 12 "not specified(LB);not specified(B);not specified(LB);Cardiovascular phenotype(LB);Hereditary myopathy with early respiratory failure(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Hypertrophic cardiomyopathy(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Distal myopathy Markesbery-Griggs type(US);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(B)" 1/4/2018 -25.5 1.583333333 BLB 3 96276 Simple 72648997 A . CI 1 4 "not specified(B);not specified(LB);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);not specified(US)" 11/28/2017 -9.87 2.25 BLB 3 96285 Simple 398124450 C . CI 1 4 "not specified(LB);not specified(US);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);not specified(LB)" 1/26/2017 -8.67 1.75 BLB 3 96288 Simple 72677221 A . CI 1 6 "not specified(US);not specified(LB);not specified(LB);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(B);Cardiovascular phenotype(LB)" 12/23/2017 -19.74 1.833333333 BLB 3 96291 Simple 201717871 T . CI 1 13 "not specified(US);not provided(LB);not specified(LB);not specified(US);Hypertrophic cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);Dilated Cardiomyopathy, Dominant(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Distal myopathy Markesbery-Griggs type(US);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);not specified(LB);Cardiovascular phenotype(US)" 2/22/2018 -13.68 1.307692308 BLB 3 96296 Simple 181717727 T . CI 1 11 "not specified(B);not specified(LB);not specified(B);Hypertrophic cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Distal myopathy Markesbery-Griggs type(US);Hereditary myopathy with early respiratory failure(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Cardiovascular phenotype(B)" 1/3/2018 -25.8 1.454545455 BLB 3 96299 Simple 372382315 A . CI 1 4 "not specified(US);not specified(B);not specified(LB);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB)" 12/1/2017 -10.44 2 BLB 3 96301 Simple 56071233 T . CI 1 11 "not specified(B);not specified(B);Cardiovascular phenotype(B);Distal myopathy Markesbery-Griggs type(US);Hypertrophic cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Hereditary myopathy with early respiratory failure(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(B)" 12/27/2017 -26.4 1.727272727 BLB 3 96312 Simple 201770959 A . CI 1 11 "not specified(B);not specified(B);Cardiovascular phenotype(LB);not specified(LB);Limb-Girdle Muscular Dystrophy, Recessive(US);Hereditary myopathy with early respiratory failure(US);Hypertrophic cardiomyopathy(US);Distal myopathy Markesbery-Griggs type(US);Dilated Cardiomyopathy, Dominant(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B)" 1/3/2018 -22.5 1.545454545 BLB 3 96314 Simple 72648237 T . CI 1 12 "not specified(LB);not provided(US);not specified(LB);Cardiovascular phenotype(US);not specified(LB);Limb-Girdle Muscular Dystrophy, Recessive(US);Dilated Cardiomyopathy, Dominant(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);Hypertrophic cardiomyopathy(US);Distal myopathy Markesbery-Griggs type(US);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B)" 1/3/2018 -16.32 1.583333333 BLB 3 96317 Simple 183620684 A . CI 1 3 "not specified(US);Cardiovascular phenotype(LB);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B)" 8/6/2016 -8.91 2.333333333 BLB 3 96320 Simple 376810671 A . CI 1 10 "Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);Cardiovascular phenotype(LB);not specified(US);Hereditary myopathy with early respiratory failure(US);Dilated Cardiomyopathy, Dominant(US);Distal myopathy Markesbery-Griggs type(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Hypertrophic cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);not specified(B)" 1/11/2018 -11.97 1.5 BLB 3 96363 Simple 150248483 A . CI 1 4 "not specified(US);not specified(B);not specified(US);Epilepsy, X-linked, with variable learning disabilities and behavior disorders(B)" 11/6/2017 -10.71 2.25 BLB 3 96453 Simple 190910161 T . CI 1 5 "not specified(B);not specified(B);not specified(B);Epileptic encephalopathy, early infantile, 1(B);Mental retardation, with or without seizures, ARX-related, X-linked(B);Epileptic encephalopathy, early infantile, 1(B);Mental retardation, with or without seizures, ARX-related, X-linked(B)" 12/13/2017 -23.4 3 BLB 3 96470 Simple 150752548 A . CI 1 4 not specified(US);Hereditary cancer-predisposing syndrome(LB);Multiple fibrofolliculomas(B);not specified(LB) 1/11/2018 -11.88 1.75 BLB 3 96498 Simple 143191074 G . CI 1 3 not specified(B);not specified(US);Bardet-Biedl syndrome(B) 11/20/2017 -12.27 1 BLB 3 96505 Simple 141743294 T . CI 1 4 not specified(B);not provided(US);not specified(B);Progressive myoclonus epilepsy with ataxia(B) 12/27/2017 -15.21 2.75 BLB 3 96507 Simple 35854729 C . CI 1 4 not specified(B);not specified(B);Progressive myoclonus epilepsy with ataxia(US);Progressive myoclonus epilepsy with ataxia(B) 1/8/2018 -14.1 2.5 BLB 3 96542 Simple 398124554 - . CI 1 3 not provided(P);Brody myopathy(US);not provided(P) 6/14/2016 9.3 2.333333333 PLP 3 96543 Simple 398124555 TT . CI 1 3 not provided(P);Brody myopathy(US);not provided(P) 6/14/2016 9.3 2.333333333 PLP 3 96544 Simple 113803159 G . CI 1 3 not specified(US);not specified(LB);Brody myopathy(B) 1/30/2018 -9.18 1.666666667 BLB 3 96640 Simple 41304731 T . CI 1 3 not specified(LB);not specified(US);Nance-Horan syndrome(B) 12/14/2017 -9.24 1.333333333 BLB 3 96674 Simple 398124622 GGAGCCGGAGCC . CI 1 6 not specified(LB);not specified(LB);not specified(US);Pontoneocerebellar hypoplasia(LB);not specified(US);not specified(B) 6/26/2017 -14.25 2.333333333 BLB 3 96677 Simple 78899595 T . CI 1 6 "not specified(B);not specified(B);Limb-Girdle Muscular Dystrophy, Recessive(US);Miyoshi myopathy(US);not specified(B);Gnathodiaphyseal dysplasia(B);Limb-girdle muscular dystrophy, type 2L(B)" 1/2/2018 -21.6 1.666666667 BLB 3 96766 Simple 80358443 G . CI 1 8 "Hereditary cancer-predisposing syndrome(LB);not specified(LB);Neoplasm of the breast(US);Hereditary breast and ovarian cancer syndrome(B);Hereditary cancer-predisposing syndrome(LB);Breast-ovarian cancer, familial 2(US);not specified(LB);not provided(LB)" 2/28/2018 -20.94 1.25 BLB 3 96767 Simple 11571587 - . CI 1 4 not specified(LB);Hereditary cancer-predisposing syndrome(LB);Hereditary breast and ovarian cancer syndrome(LB);Hereditary cancer-predisposing syndrome(B) 12/5/2017 -14.4 1 BLB 3 96786 Simple 431825302 G . CI 1 5 not specified(US);not specified(LB);Hereditary breast and ovarian cancer syndrome(LB);Hereditary cancer-predisposing syndrome(LB);not provided(US) 1/3/2018 -9.24 1.4 BLB 3 96817 Simple 35335654 G . CI 1 6 Hereditary cancer-predisposing syndrome(LB);not specified(LB);Hereditary breast and ovarian cancer syndrome(LB);Hereditary breast and ovarian cancer syndrome(LB);not specified(LB);not provided(LB) 12/4/2017 -17.4 1 BLB 3 96853 Simple 80358982 A . CI 1 7 "Hereditary cancer-predisposing syndrome(LB);not specified(LB);Hereditary breast and ovarian cancer syndrome(LB);Breast-ovarian cancer, familial 2(US);not specified(US);Hereditary cancer-predisposing syndrome(LB);not provided(LB)" 12/29/2017 -15.24 1 BLB 3 96927 Simple 80358104 T . CI 1 5 "Hereditary breast and ovarian cancer syndrome(B);Breast-ovarian cancer, familial 1(US);not specified(LB);Hereditary cancer-predisposing syndrome(LB);not provided(US)" 11/19/2017 -12.57 0.6 BLB 3 96929 Simple 80358034 A . CI 1 6 "Breast-ovarian cancer, familial 1(LB);not specified(LB);Hereditary breast and ovarian cancer syndrome(LB);not specified(LB);Hereditary cancer-predisposing syndrome(LB);not provided(US)" 10/24/2017 -15 1 BLB 3 96955 Simple 273902781 - . CI 1 5 Hereditary breast and ovarian cancer syndrome(LB);Hereditary breast and ovarian cancer syndrome(B);not specified(LB);not specified(LB);Hereditary cancer-predisposing syndrome(LB) 3/1/2018 -17.4 1 BLB 3 97162 Simple 72554348 C . CI 1 4 not specified(B);Ornithine carbamoyltransferase deficiency(LB);not specified(B);Ornithine carbamoyltransferase deficiency(B) 1/23/2018 -20.4 1 BLB 3 97532 Simple 104895179 A . CI 1 5 not specified(B);not specified(US);not specified(US);not provided(US);Familial Mediterranean fever(B) 10/30/2017 -11.7 1 BLB 3 97815 Simple 17555442 A . CI 1 4 not specified(B);Majeed syndrome(US);not specified(B);Majeed syndrome(B) 8/7/2017 -15.9 1.75 BLB 3 97880 Simple 104895421 A . CI 1 4 not specified(US);Blau syndrome(LB);Crohn disease(LB);Blau syndrome(B);Inflammatory bowel disease 1(B) 12/19/2017 -12.24 1.25 BLB 3 97990 Simple 180177462 T . CI 1 4 "not specified(US);Chronic infantile neurological, cutaneous and articular syndrome(LB);Familial cold autoinflammatory syndrome(LB);Familial amyloid nephropathy with urticaria AND deafness(LB)" 6/14/2016 -9.27 1.25 BLB 3 98797 Simple 62638654 T . CI 1 2 not specified(B);Ciliary dyskinesia(B) 10/30/2017 -10.8 1.5 BLB 3 99067 Simple 61751392 G . CI 1 3 not specified(US);Stargardt disease 1(P);not provided(P) 10/31/2017 11.1 1.333333333 PLP 3 99101 Simple 61749417 T . CI 1 6 "not specified(B);not specified(US);Stargardt Disease, Recessive(LB);Macular degeneration(LB);Cone-Rod Dystrophy, Recessive(LB);Retinitis Pigmentosa, Recessive(LB)" 8/10/2017 -17.1 1.166666667 BLB 3 99153 Simple 61749440 A . CI 1 7 "Stargardt disease 1(LP);not specified(US);not specified(US);Retinitis Pigmentosa, Recessive(LB);Macular degeneration(LB);Cone-Rod Dystrophy, Recessive(LB);Stargardt Disease, Recessive(LB)" 9/14/2016 -9.87 1.285714286 BLB 3 99246 Simple 61750129 T . CI 1 7 "not specified(B);Cone-Rod Dystrophy, Recessive(LB);Macular degeneration(LB);Retinitis Pigmentosa, Recessive(LB);Stargardt Disease, Recessive(LB);not specified(B);not provided(B)" 5/30/2017 -28.2 1.428571429 B 3 99260 Simple 61750135 G . CI 1 3 Stargardt disease 1(P);not provided(P);not specified(US) 2/9/2017 11.13 1.666666667 PLP 3 99330 Simple 61751404 A . CI 1 3 Stargardt disease 1(LP);not provided(P);not specified(US) 6/16/2017 8.43 1.333333333 PLP 3 99441 Simple 61748519 A . CI 1 5 "Stargardt disease 1(US);Stargardt Disease, Recessive(LB);Retinitis Pigmentosa, Recessive(LB);Macular degeneration(LB);Cone-Rod Dystrophy, Recessive(LB)" 6/14/2016 -12.27 1.2 BLB 3 99492 Simple 77293072 T . CI 1 7 "not specified(B);Stargardt disease 1(US);not specified(B);Retinitis Pigmentosa, Recessive(LB);Cone-Rod Dystrophy, Recessive(LB);Macular degeneration(LB);Stargardt Disease, Recessive(LB)" 6/14/2016 -20.67 2 BLB 3 99600 Simple 145805694 A . CI 1 3 "Cone-Rod Dystrophy, Dominant(LB);Retinitis Pigmentosa, Dominant(LB);Leber congenital amaurosis(LB)" 11/30/2016 -9 1 BLB 3 99927 Simple 80358354 C . CI 1 2 not specified(B);not specified(B) 1/22/2018 -11.4 1 BLB 3 100094 Simple 1801158 T . CI 1 2 not specified(B);Dihydropyrimidine dehydrogenase deficiency(B) 1/31/2017 -10.8 2 BLB 3 100602 Simple 137853918 G . CI 1 4 "Febrile seizures, familial, 4(US);not specified(B);not specified(B);not specified(B)" 6/26/2017 -14.01 3.25 BLB 3 100605 Simple 137853921 G . CI 1 5 not specified(LB);not specified(US);Bardet-Biedl syndrome(B);not specified(US);not provided(LB) 11/18/2017 -11.67 1.6 BLB 3 100754 Simple 9983887 A . CI 1 2 Leukocyte adhesion deficiency(LB);Leukocyte adhesion deficiency type 1(B) 8/17/2017 -9 0.5 BLB 3 102706 Simple 199475679 T . CI 1 4 not provided(LP);Phenylketonuria(US);Phenylketonuria(LP);Phenylketonuria(LP) 8/26/2016 8.4 1.25 PLP 3 102871 Simple 62507324 G . CI 1 3 not specified(US);Phenylketonuria(P);Phenylketonuria(P) 7/14/2017 11.13 1.333333333 PLP 3 125464 Simple 273898672 A . CI 1 3 "not specified(B);Breast-ovarian cancer, familial 1(LB);not specified(LB)" 10/25/2016 -9.3 3 BLB 3 125523 Simple 273902789 GG . CI 1 3 Hereditary breast and ovarian cancer syndrome(B);Hereditary cancer-predisposing syndrome(LB);not specified(LB) 12/11/2017 -12 0 BLB 3 125610 Simple 80358174 C . CI 1 3 not specified(LB);Hereditary breast and ovarian cancer syndrome(LB);not specified(LB) 10/25/2017 -9 0.666666667 BLB 3 125663 Simple 80358001 T . CI 1 3 "Breast-ovarian cancer, familial 1(LB);Hereditary cancer-predisposing syndrome(LB);not specified(LB)" 6/22/2017 -9 0.666666667 BLB 3 125666 Simple 80358101 G . CI 1 5 "not specified(B);Hereditary breast and ovarian cancer syndrome(B);Breast-ovarian cancer, familial 1(B);Hereditary cancer-predisposing syndrome(LB);not provided(LB)" 12/15/2017 -21 2 BLB 3 125672 Simple 80358057 T . CI 1 5 "not specified(B);not specified(US);Hereditary breast and ovarian cancer syndrome(LB);Breast-ovarian cancer, familial 1(LB);Hereditary cancer-predisposing syndrome(LB)" 1/3/2018 -13.74 1.8 BLB 3 125685 Simple 80358104 G . CI 1 4 "Breast-ovarian cancer, familial 1(B);not specified(LB);Hereditary breast and ovarian cancer syndrome(LB);Hereditary cancer-predisposing syndrome(LB)" 10/2/2017 -13.8 1.5 BLB 3 125697 Simple 80358016 A . CI 1 3 "Hereditary breast and ovarian cancer syndrome(LB);Breast-ovarian cancer, familial 1(LB);not specified(LB)" 10/5/2017 -9 0.666666667 BLB 3 125709 Simple 80358180 C . CI 1 6 "Breast-ovarian cancer, familial 1(LB);Familial cancer of breast(B);not specified(B);Hereditary cancer-predisposing syndrome(LB);not provided(US);Hereditary breast and ovarian cancer syndrome(B)" 1/13/2018 -23.7 1.166666667 BLB 3 125727 Simple 80358021 C . CI 1 4 Hereditary breast and ovarian cancer syndrome(LB);not specified(LB);Hereditary cancer-predisposing syndrome(LB);not specified(B) 10/25/2017 -13.8 1.5 BLB 3 125761 Simple 80358059 A . CI 1 4 "Breast-ovarian cancer, familial 1(LB);Hereditary breast and ovarian cancer syndrome(B);not specified(LB);Hereditary cancer-predisposing syndrome(B)" 9/17/2017 -17.4 1 BLB 3 125803 Simple 80358090 A . CI 1 3 "Hereditary breast and ovarian cancer syndrome(LB);Breast-ovarian cancer, familial 1(LB);Hereditary cancer-predisposing syndrome(LB)" 12/19/2017 -8.4 1.333333333 BLB 3 125824 Simple 80358148 G . CI 1 4 not specified(LB);Hereditary breast and ovarian cancer syndrome(LB);Hereditary cancer-predisposing syndrome(LB);not provided(LB) 11/1/2017 -11.7 0.75 BLB 3 125831 Simple 80358084 A . CI 1 5 not specified(US);Hereditary breast and ovarian cancer syndrome(LB);not specified(US);Hereditary cancer-predisposing syndrome(LB);not provided(LB) 12/28/2017 -9.42 1.8 BLB 3 125880 Simple 273902771 - . CI 1 4 not specified(US);Hereditary breast and ovarian cancer syndrome(B);Hereditary cancer-predisposing syndrome(LB);not provided(LB) 12/12/2017 -11.7 1.25 BLB 3 125887 Simple 398122353 - . CI 1 3 Hereditary cancer-predisposing syndrome(LB);Hereditary breast and ovarian cancer syndrome(B);Hereditary cancer-predisposing syndrome(LB) 8/10/2017 -11.7 1 BLB 3 125896 Simple 80358102 G . CI 1 3 Hereditary breast and ovarian cancer syndrome(LB);not specified(LB);Hereditary cancer-predisposing syndrome(LB) 9/24/2017 -9 0.333333333 BLB 3 125926 Simple 276174803 GAATTATATCT . CI 1 5 "Hereditary breast and ovarian cancer syndrome(LB);Hereditary cancer-predisposing syndrome(B);Breast-ovarian cancer, familial 2(B);Hereditary breast and ovarian cancer syndrome(US);not provided(B)" 11/18/2016 -18.87 2 BLB 3 125991 Simple 11571574 G . CI 1 3 not specified(LB);not specified(B);Hereditary cancer-predisposing syndrome(B) 10/25/2017 -13.8 1.333333333 BLB 3 126118 Simple 276174849 TT . CI 1 5 "Hereditary breast and ovarian cancer syndrome(B);Breast-ovarian cancer, familial 2(US);not specified(LB);Hereditary cancer-predisposing syndrome(LB);Breast-ovarian cancer, familial 2(LB)" 10/18/2017 -14.37 1.4 BLB 3 126125 Simple 276174887 - . CI 1 5 "Hereditary breast and ovarian cancer syndrome(B);Breast-ovarian cancer, familial 2(US);Breast-ovarian cancer, familial 2(US);not specified(LB);not provided(LB)" 10/24/2016 -11.94 1.6 BLB 3 126275 Simple 61743997 T . CI 1 5 Meckel-Gruber syndrome(US);Joubert syndrome(US);Nephronophthisis(US);Joubert syndrome(B);Meckel-Gruber syndrome(B);not specified(B) 8/11/2017 -11.1 1.4 BLB 3 126289 Simple 138897437 T . CI 1 4 Meckel-Gruber syndrome(US);Joubert syndrome(US);not specified(B);Joubert syndrome(B);Meckel-Gruber syndrome(B) 10/12/2017 -12.6 0.75 BLB 3 126395 Simple 145588689 C . CI 1 8 not provided(P);Aicardi-Goutieres syndrome 6(P);Symmetrical dyschromatosis of extremities(LB);Aicardi Goutieres syndrome(LB);Symmetrical dyschromatosis of extremities(US);Aicardi-Goutieres syndrome 6(US);Aicardi-Goutieres syndrome 6(P);Aicardi Goutieres syndrome(LP);Inborn genetic diseases(P) 11/22/2017 20.1 0.75 P 3 126480 Simple 187864727 A . CI 1 10 "Scapuloperoneal spinal muscular atrophy(B);Distal spinal muscular atrophy, congenital nonprogressive(B);Spondylometaphyseal dysplasia(B);Metatrophic dysplasia(B);Charcot-Marie-Tooth, Type 2(B);Brachyolmia(B);not specified(B);not provided(B);not specified(B);Charcot-Marie-Tooth disease type 2C(B)" 1/5/2018 -59.4 1 B 3 126580 Simple 202241382 C . CI 1 5 Hereditary cancer-predisposing syndrome(LB);Familial cancer of breast(B);Hereditary cancer-predisposing syndrome(LB);Fanconi anemia(LB);not specified(US) 10/23/2017 -15.3 0.6 BLB 3 126582 Simple 45494092 G . CI 1 11 Familial cancer of breast(B);Hereditary cancer-predisposing syndrome(B);Hereditary cancer-predisposing syndrome(B);Familial cancer of breast(US);Hereditary cancer-predisposing syndrome(B);not specified(B);Hereditary cancer-predisposing syndrome(LB);Familial cancer of breast(B);Hereditary cancer-predisposing syndrome(LB);not specified(B);not specified(B) 8/17/2017 -48.24 2 B 3 126623 Simple 180177143 - . CI 1 7 not provided(P);Hereditary cancer-predisposing syndrome(P);Familial cancer of breast(LP);Familial cancer of breast(P);not provided(P);Hereditary cancer-predisposing syndrome(P);Familial cancer of breast(P) 1/10/2018 37.2 1.285714286 P 3 126647 Simple 515726085 T . CI 1 7 not specified(LB);Familial cancer of breast(US);Hereditary cancer-predisposing syndrome(LB);Familial cancer of breast(LB);not specified(US);Hereditary cancer-predisposing syndrome(US);not provided(LB) 1/6/2018 -12.3 0.857142857 BLB 3 126653 Simple 140776736 T . CI 1 6 not specified(B);Hereditary cancer-predisposing syndrome(LB);Familial cancer of breast(LB);Hereditary cancer-predisposing syndrome(LB);not specified(US);not provided(US) 1/8/2018 -13.5 1.5 BLB 3 126661 Simple 373321719 C . CI 1 6 Familial cancer of breast(LB);not specified(B);Familial cancer of breast(LB);not specified(LB);Hereditary cancer-predisposing syndrome(LB);not provided(LB) 12/12/2017 -18.3 1.833333333 BLB 3 126683 Simple 45478192 C . CI 1 12 not specified(B);Familial cancer of breast(B);Hereditary cancer-predisposing syndrome(B);Familial cancer of breast(US);Fanconi anemia(LB);Hereditary cancer-predisposing syndrome(LB);not specified(US);not specified(LB);not specified(US);Hereditary cancer-predisposing syndrome(B);not provided(B);Hereditary cancer-predisposing syndrome(US) 1/16/2018 -37.74 1.25 B 3 126691 Simple 149522412 G . CI 1 7 Hereditary cancer-predisposing syndrome(B);not specified(LB);Familial cancer of breast(B);Hereditary cancer-predisposing syndrome(LB);Fanconi anemia(LB);not specified(US);not provided(LB) 2/28/2018 -23.7 0.714285714 BLB 3 126708 Simple 183489969 G . CI 1 7 Hereditary cancer-predisposing syndrome(US);not specified(LB);Familial cancer of breast(B);Familial cancer of breast(US);Fanconi anemia(LB);Hereditary cancer-predisposing syndrome(LB);not provided(LB) 1/12/2018 -18.54 0.714285714 BLB 3 126711 Simple 180177132 T . CI 1 10 not provided(P);Familial cancer of breast(P);Hereditary cancer-predisposing syndrome(P);Familial cancer of breast(P);Hereditary cancer-predisposing syndrome(P);Familial cancer of breast(LP);Hereditary cancer-predisposing syndrome(P);Familial cancer of breast(P);not provided(P);Hereditary breast and ovarian cancer syndrome(P) 1/2/2018 52.2 1.7 P 3 126737 Simple 180177136 C . CI 1 5 Hereditary cancer-predisposing syndrome(P);not provided(P);Familial cancer of breast(LP);Familial cancer of breast(LP);Hereditary cancer-predisposing syndrome(LP) 5/17/2017 19.8 1.4 P 3 126743 Simple 145598272 A . CI 1 7 Familial cancer of breast(LB);Hereditary cancer-predisposing syndrome(LB);Familial cancer of breast(US);Familial cancer of breast(US);not specified(LB);not specified(LB);not provided(LB) 2/12/2018 -15.51 0.857142857 BLB 3 126749 Simple 139555085 T . CI 1 8 Familial cancer of breast(B);Hereditary cancer-predisposing syndrome(B);not specified(LB);Familial cancer of breast(US);Familial cancer of breast(LB);not specified(LB);Hereditary cancer-predisposing syndrome(LB);not provided(B) 1/16/2018 -29.34 1.25 B 3 126758 Simple 138789658 C . CI 1 10 Familial cancer of breast(B);Familial cancer of breast(US);Hereditary cancer-predisposing syndrome(B);Fanconi anemia(LB);Hereditary cancer-predisposing syndrome(LB);not provided(B);not specified(LB);Hereditary cancer-predisposing syndrome(LB);not specified(B);Hereditary cancer-predisposing syndrome(B) 1/11/2018 -38.04 1.7 B 3 126761 Simple 57605939 A . CI 1 9 Familial cancer of breast(B);Hereditary cancer-predisposing syndrome(B);not specified(B);Hereditary cancer-predisposing syndrome(LB);Familial cancer of breast(US);Hereditary cancer-predisposing syndrome(B);Hereditary cancer-predisposing syndrome(B);Fanconi anemia(B);Hereditary cancer-predisposing syndrome(LB) 1/12/2018 -38.34 1.888888889 B 3 126777 Simple 528541334 A . CI 1 5 Familial cancer of breast(B);Familial cancer of breast(US);Hereditary cancer-predisposing syndrome(US);Familial cancer of breast(US);not specified(LB) 11/18/2017 -9.81 1 BLB 3 126964 Simple 121908819 T . CI 1 2 Hereditary Paraganglioma-Pheochromocytoma Syndromes(B);Hereditary cancer-predisposing syndrome(LB) 9/1/2017 -9 0.5 BLB 3 127031 Simple 61749249 T . CI 1 6 not specified(US);Hereditary cancer-predisposing syndrome(B);not specified(US);Ataxia-telangiectasia-like disorder 1(B);not specified(LB);not specified(US) 1/11/2018 -14.25 2.166666667 BLB 3 127074 Simple 587777308 A . CI 1 3 not specified(US);not provided(P);Inborn genetic diseases(P) 7/21/2016 11.19 2.333333333 PLP 3 127278 Simple 147863331 A . CI 1 6 not specified(LB);Hereditary cancer-predisposing syndrome(LB);Familial adenomatous polyposis 1(LB);Familial adenomatous polyposis 1(US);not specified(LB);Hereditary cancer-predisposing syndrome(LB) 1/12/2018 -13.77 1.5 BLB 3 127294 Simple 146572883 A . CI 1 5 not specified(LB);Hereditary cancer-predisposing syndrome(LB);Familial adenomatous polyposis 1(LB);not specified(LB);not provided(LB) 1/3/2018 -13.8 1.2 BLB 3 127295 Simple 111866410 G . CI 1 7 not specified(B);Familial adenomatous polyposis 1(B);Hereditary cancer-predisposing syndrome(B);Familial multiple polyposis syndrome(US);APC-Associated Polyposis Disorders(LB);not specified(LB);not provided(LB) 1/10/2018 -25.47 1.428571429 BLB 3 127302 Simple 370560998 G . CI 1 7 Familial multiple polyposis syndrome(US);Hereditary cancer-predisposing syndrome(LB);Familial adenomatous polyposis 1(LB);not specified(US);not specified(US);not provided(US);not specified(LB) 2/12/2018 -10.08 1.285714286 BLB 3 127315 Simple 200587641 T . CI 1 5 Familial adenomatous polyposis 1(B);Hereditary cancer-predisposing syndrome(LB);Familial adenomatous polyposis(P);not provided(LB);not specified(LB) 12/26/2017 -9.6 0.6 BLB 3 127318 Simple 372305287 A . CI 1 8 Hereditary cancer-predisposing syndrome(LB);Familial adenomatous polyposis 1(LB);not specified(US);not specified(US);Hereditary cancer-predisposing syndrome(US);not provided(US);not specified(US);not specified(LB) 2/12/2018 -10.47 0.875 BLB 3 127325 Simple 369721828 A . CI 1 5 not specified(US);Hereditary cancer-predisposing syndrome(B);Familial adenomatous polyposis 1(LB);Familial adenomatous polyposis 1(US);not provided(US) 1/16/2018 -9.24 1.4 BLB 3 127332 Simple 56128736 C . CI 1 8 Hereditary cancer-predisposing syndrome(B);not specified(LB);Hereditary cancer-predisposing syndrome(US);not specified(US);Hereditary cancer-predisposing syndrome(B);not provided(LB);not specified(B);Ataxia-telangiectasia syndrome(B) 1/18/2018 -28.17 1.625 B 3 127347 Simple 34231402 A . CI 1 5 not specified(LB);Ataxia-telangiectasia syndrome(B);Hereditary cancer-predisposing syndrome(LB);Familial cancer of breast(US);Ataxia-telangiectasia syndrome(US);not provided(LB) 1/17/2018 -15 0.6 BLB 3 127362 Simple 139552233 C . CI 1 5 not specified(B);Ataxia-telangiectasia syndrome(B);Hereditary cancer-predisposing syndrome(B);not specified(LB);not provided(US) 1/3/2018 -21.3 0.4 BLB 3 127366 Simple 146531614 G . CI 1 8 not specified(US);Ataxia-telangiectasia syndrome(B);Hereditary cancer-predisposing syndrome(B);not specified(US);not specified(US);not specified(US);Familial cancer of breast(US);Ataxia-telangiectasia syndrome(US);not provided(US) 1/4/2018 -12.48 1.625 BLB 3 127377 Simple 149711770 A . CI 1 8 not specified(LB);Ataxia-telangiectasia syndrome(LB);Hereditary cancer-predisposing syndrome(LB);not specified(US);not specified(US);not specified(US);not provided(LB);Ataxia-telangiectasia syndrome(LB) 12/28/2017 -14.94 1.25 BLB 3 127388 Simple 138327406 G . CI 1 9 Ataxia-telangiectasia syndrome(B);Hereditary cancer-predisposing syndrome(B);not specified(US);Hereditary cancer-predisposing syndrome(US);not specified(US);not specified(LB);Hereditary cancer-predisposing syndrome(B);not provided(LB);not specified(B) 1/15/2018 -28.11 1.777777778 B 3 127392 Simple 34640941 G . CI 1 5 not specified(LB);Ataxia-telangiectasia syndrome(LB);Hereditary cancer-predisposing syndrome(LB);not specified(LB);not provided(US) 1/9/2018 -12.3 0.4 BLB 3 127394 Simple 140856217 C . CI 1 7 not specified(US);Ataxia-telangiectasia syndrome(LB);Hereditary cancer-predisposing syndrome(LB);not specified(US);not provided(US);Ataxia-telangiectasia syndrome(LB);Ataxia-telangiectasia syndrome(LB) 1/10/2018 -12.3 0.714285714 BLB 3 127415 Simple 150757822 C . CI 1 5 not specified(LB);Ataxia-telangiectasia syndrome(LB);Hereditary cancer-predisposing syndrome(LB);Familial cancer of breast(US);Ataxia-telangiectasia syndrome(US);not provided(US) 2/8/2018 -9.6 0.6 BLB 3 127416 Simple 11212587 A . CI 1 5 Ataxia-telangiectasia syndrome(LB);Hereditary cancer-predisposing syndrome(LB);not specified(LB);Hereditary cancer-predisposing syndrome(LB);not provided(B) 1/8/2018 -17.4 0.6 BLB 3 127421 Simple 144761622 T . CI 1 5 not specified(US);Hereditary cancer-predisposing syndrome(US);Ataxia-telangiectasia syndrome(B);not specified(US);not provided(LB) 12/29/2017 -9.6 1 BLB 3 127430 Simple 56009889 T . CI 1 7 Hereditary cancer-predisposing syndrome(B);not specified(US);not specified(LB);Hereditary cancer-predisposing syndrome(LB);not provided(B);not specified(B);Ataxia-telangiectasia syndrome(B) 1/7/2018 -27.87 1.714285714 B 3 127433 Simple 148432863 G . CI 1 4 not specified(LB);Ataxia-telangiectasia syndrome(LB);Hereditary cancer-predisposing syndrome(US);not provided(LB) 2/20/2018 -9.3 0.5 BLB 3 127443 Simple 55801750 C . CI 1 7 not specified(LB);Ataxia-telangiectasia syndrome(LB);Hereditary cancer-predisposing syndrome(B);not specified(US);not provided(LB);Ataxia-telangiectasia syndrome(US);Ataxia-telangiectasia syndrome(US) 1/3/2018 -15.24 1.142857143 BLB 3 127475 Simple 201231857 G . CI 1 3 not specified(US);Bloom syndrome(B);Hereditary cancer-predisposing syndrome(LB) 12/23/2017 -9.21 1.333333333 BLB 3 127480 Simple 12720097 A . CI 1 6 not specified(LB);Bloom syndrome(US);Bloom syndrome(B);not specified(LB);Bloom syndrome(US);Hereditary cancer-predisposing syndrome(LB) 1/11/2018 -15.54 1 BLB 3 127501 Simple 1801256 A . CI 1 5 not specified(LB);Bloom syndrome(B);not specified(US);not specified(US);Hereditary cancer-predisposing syndrome(LB) 12/27/2017 -12.6 0.4 BLB 3 127524 Simple 200863613 A . CI 1 5 not specified(US);Hereditary cutaneous melanoma(LB);Hereditary cancer-predisposing syndrome(LB);Hereditary cancer-predisposing syndrome(US);not provided(LB) 12/27/2017 -9.3 0.4 BLB 3 127526 Simple 6413463 T . CI 1 6 not specified(LB);Hereditary cancer-predisposing syndrome(B);Hereditary cutaneous melanoma(LB);Melanoma-pancreatic cancer syndrome(US);not specified(US);not provided(US) 1/4/2018 -11.7 1 BLB 3 127537 Simple 138629441 T . CI 1 4 not specified(LB);Fanconi anemia(US);not provided(LB);Hereditary cancer-predisposing syndrome(LB) 1/7/2018 -9 0.5 BLB 3 127544 Simple 140781259 C . CI 1 4 not specified(LB);Fanconi anemia(B);Fanconi anemia(US);Hereditary cancer-predisposing syndrome(US) 1/3/2018 -9.6 0.5 BLB 3 127588 Simple 182871847 A . CI 1 6 not specified(LB);Hereditary nonpolyposis colon cancer(B);not specified(US);not specified(B);Hereditary cancer-predisposing syndrome(LB);not provided(B) 1/9/2018 -23.7 1 BLB 3 127613 Simple 202038499 C . CI 1 7 not specified(LB);Hereditary cancer-predisposing syndrome(LB);Hereditary nonpolyposis colon cancer(LB);Lynch syndrome(US);not specified(US);not specified(LB);Hereditary cancer-predisposing syndrome(LB) 2/19/2018 -15.27 0.857142857 BLB 3 127660 Simple 538728843 T . CI 1 6 not specified(LB);Hereditary cancer-predisposing syndrome(US);PTEN hamartoma tumor syndrome(B);not specified(US);not specified(LB);not provided(B) 2/9/2017 -17.28 2.166666667 BLB 3 127661 Simple 563841270 T . CI 1 4 not specified(LB);Hereditary cancer-predisposing syndrome(US);PTEN hamartoma tumor syndrome(LB);not provided(LB) 1/20/2017 -8.91 2 BLB 3 127700 Simple 200078204 T . CI 1 10 not specified(LB);Hereditary cancer-predisposing syndrome(LB);Peutz-Jeghers syndrome(LB);not specified(US);Peutz-Jeghers syndrome(LB);Hereditary cancer-predisposing syndrome(LB);not specified(US);not specified(LB);Hereditary cancer-predisposing syndrome(LB);not provided(B) 1/9/2018 -27.27 0.8 B 3 127703 Simple 587780009 A . CI 1 4 not specified(LB);Hereditary cancer-predisposing syndrome(US);Peutz-Jeghers syndrome(LB);not specified(LB) 1/12/2018 -9.3 0.5 BLB 3 127707 Simple 199681533 A . CI 1 5 not specified(US);Hereditary cancer-predisposing syndrome(LB);Peutz-Jeghers syndrome(LB);not specified(US);not provided(LB) 1/12/2018 -9.6 0.4 BLB 3 127710 Simple 549474196 G . CI 1 7 not specified(LB);Hereditary cancer-predisposing syndrome(LB);Peutz-Jeghers syndrome(US);Peutz-Jeghers syndrome(US);Peutz-Jeghers syndrome(US);not specified(LB);not provided(US) 1/12/2018 -10.14 0.857142857 BLB 3 127732 Simple 76744638 C . CI 1 6 not specified(LB);Hereditary cancer-predisposing syndrome(LB);Familial cancer of breast(B);Neoplasm of the breast(US);not specified(LB);Hereditary cancer-predisposing syndrome(B) 1/12/2018 -20.7 0.666666667 BLB 3 127735 Simple 142155101 T . CI 1 7 not specified(LB);Hereditary cancer-predisposing syndrome(LB);Familial cancer of breast(B);Neoplasm of the breast(LB);Hereditary cancer(US);Hereditary cancer-predisposing syndrome(LB);not provided(LB) 12/29/2017 -20.64 1.142857143 BLB 3 127805 Simple 201717599 A . CI 1 4 not specified(LB);Li-Fraumeni syndrome(LB);Hereditary cancer-predisposing syndrome(LB);Li-Fraumeni syndrome 1(US) 3/15/2018 -9.3 0.5 BLB 3 127821 Simple 144340710 C . CI 1 6 not specified(LB);Hereditary cancer-predisposing syndrome(LB);Li-Fraumeni syndrome(LB);not specified(US);not specified(US);not provided(LB) 12/19/2017 -12.54 1 BLB 3 127827 Simple 201753350 T . CI 1 7 Li-Fraumeni syndrome(LB);Hereditary cancer-predisposing syndrome(US);Li-Fraumeni syndrome 1(LP);Li-Fraumeni syndrome(LB);Li-Fraumeni syndrome 1(US);not provided(B);not specified(LB) 12/15/2017 -12.87 0.857142857 BLB 3 127848 Simple 146480420 C . CI 1 6 not specified(LB);Hereditary nonpolyposis colon cancer(B);Lynch syndrome(LB);Lynch syndrome(US);not specified(LB);not provided(B) 4/11/2017 -19.8 1.833333333 BLB 3 127851 Simple 115283528 G . CI 1 3 not specified(LB);Lynch syndrome(B);Lynch syndrome(US) 11/24/2016 -8.4 2 BLB 3 127861 Simple 142334798 T . CI 1 8 "Microcephaly, normal intelligence and immunodeficiency(LB);Hereditary cancer-predisposing syndrome(B);not specified(US);not specified(US);not specified(US);Hereditary cancer-predisposing syndrome(LB);not provided(B);not specified(LB)" 3/13/2018 -20.7 1 BLB 3 127869 Simple 61753720 T . CI 1 7 "Microcephaly, normal intelligence and immunodeficiency(B);Hereditary cancer-predisposing syndrome(B);not specified(US);not specified(LB);Hereditary cancer-predisposing syndrome(LB);not provided(B);not specified(LB)" 1/10/2018 -24.84 1.714285714 BLB 3 127883 Simple 140317560 A . CI 1 7 "not specified(LB);Hereditary cancer-predisposing syndrome(LB);Breast-ovarian cancer, familial 4(LB);not specified(US);Breast-ovarian cancer, familial 4(US);not specified(LB);not provided(LB)" 1/20/2018 -15.57 0.857142857 BLB 3 127892 Simple 80116829 T . CI 1 7 "not specified(LB);Hereditary cancer-predisposing syndrome(LB);not specified(US);Breast-ovarian cancer, familial 4(B);Breast-ovarian cancer, familial 4(US);not specified(US);not provided(B)" 2/27/2018 -18.24 1 BLB 3 127913 Simple 370864592 T . CI 1 7 not specified(LB);Hereditary diffuse gastric cancer(B);Hereditary cancer-predisposing syndrome(LB);Hereditary diffuse gastric cancer(US);Hereditary cancer-predisposing syndrome(LB);not specified(LB);not provided(B) 1/9/2018 -23.97 0.714285714 BLB 3 127921 Simple 149127230 A . CI 1 7 not specified(LB);Hereditary cancer-predisposing syndrome(LB);Hereditary diffuse gastric cancer(LB);Hereditary diffuse gastric cancer(US);not specified(LB);Hereditary cancer-predisposing syndrome(LB);not provided(LB) 2/19/2018 -18.24 0.714285714 BLB 3 127925 Simple 200894246 A . CI 1 6 not specified(LB);Hereditary diffuse gastric cancer(B);Hereditary cancer-predisposing syndrome(LB);Hereditary cancer-predisposing syndrome(US);not specified(US);Hereditary cancer-predisposing syndrome(US) 2/5/2018 -12.87 0.666666667 BLB 3 127933 Simple 139866691 A . CI 1 10 not specified(LB);Hereditary diffuse gastric cancer(B);Hereditary cancer-predisposing syndrome(B);Hereditary diffuse gastric cancer(LB);Hereditary diffuse gastric cancer(LB);Hereditary diffuse gastric cancer(US);Hereditary cancer-predisposing syndrome(LB);not specified(LB);not specified(LB);not provided(LB) 1/18/2018 -31.17 1.4 B 3 127939 Simple 142476324 G . CI 1 3 not specified(LB);Oligodontia-colorectal cancer syndrome(LB);Oligodontia-colorectal cancer syndrome(LB) 1/19/2018 -9 0.333333333 BLB 3 127943 Simple 145007501 T . CI 1 5 not specified(LB);Oligodontia-colorectal cancer syndrome(LB);Hereditary cancer-predisposing syndrome(US);Oligodontia-colorectal cancer syndrome(LB);not provided(LB) 2/23/2018 -12.27 0.8 BLB 3 127950 Simple 200772603 A . CI 1 8 not specified(US);Hereditary cancer-predisposing syndrome(US);Juvenile polyposis syndrome(US);Myhre syndrome(LB);Juvenile Polyposis(LB);Osler hemorrhagic telangiectasia syndrome(LB);not specified(US);Hereditary cancer-predisposing syndrome(US) 1/12/2018 -10.5 0.625 BLB 3 127965 Simple 145085742 C . CI 1 3 not specified(LB);not specified(B);Hereditary cancer-predisposing syndrome(US) 12/19/2017 -9.3 0.333333333 BLB 3 127970 Simple 116679717 T . CI 1 7 not specified(LB);Hereditary cancer-predisposing syndrome(LB);Ataxia-telangiectasia-like disorder 1(B);Ataxia-telangiectasia-like disorder 1(US);Ataxia-telangiectasia-like disorder 1(LB);not specified(LB);not specified(B) 12/29/2017 -23.4 1.285714286 BLB 3 128016 Simple 143189763 G . CI 1 3 not specified(US);Hereditary cancer-predisposing syndrome(LB);Hereditary cancer-predisposing syndrome(B) 1/3/2018 -9.27 0.666666667 BLB 3 128023 Simple 28903086 A . CI 1 5 not specified(US);Hereditary cancer-predisposing syndrome(B);Hereditary cancer-predisposing syndrome(B);Nijmegen breakage syndrome-like disorder(US);not provided(B) 1/4/2018 -17.31 1.8 BLB 3 128026 Simple 28903088 A . CI 1 4 not specified(US);Hereditary cancer-predisposing syndrome(B);Hereditary cancer-predisposing syndrome(LB);Hereditary cancer-predisposing syndrome(LB) 1/9/2018 -10.71 2.25 BLB 3 128060 Simple 142763740 A . CI 1 12 "not provided(LP);Hereditary cancer-predisposing syndrome(LP);Familial cancer of breast(US);Breast and colorectal cancer, susceptibility to(US);Colorectal cancer(US);Neoplasm of the breast(LP);Hereditary cancer-predisposing syndrome(LP);not specified(US);not provided(LP);Hereditary cancer-predisposing syndrome(LP);Hereditary cancer-predisposing syndrome(LP);not provided(US)" 1/8/2018 19.53 0.75 P 3 128064 Simple 200432447 A . CI 1 6 "not provided(LP);Hereditary cancer-predisposing syndrome(P);Breast and colorectal cancer, susceptibility to(US);Familial cancer of breast(LP);Hereditary cancer-predisposing syndrome(LP);Hereditary breast and ovarian cancer syndrome(P)" 11/6/2017 20.13 0.833333333 P 3 128070 Simple 121908700 T . CI 1 6 Hereditary cancer-predisposing syndrome(LB);Familial cancer of breast(B);not specified(US);not specified(US);not specified(US);not provided(LB) 1/12/2018 -12.9 0.666666667 BLB 3 128081 Simple 77130927 A . CI 1 10 not specified(US);Hereditary cancer-predisposing syndrome(B);Familial cancer of breast(LB);Malignant tumor of prostate(US);Familial cancer of breast(US);not specified(US);not specified(US);Hereditary cancer-predisposing syndrome(B);not provided(LB);Hereditary cancer-predisposing syndrome(US) 1/16/2018 -19.17 1 BLB 3 128089 Simple 587780192 G . CI 1 4 not provided(LP);Hereditary cancer-predisposing syndrome(LP);Familial cancer of breast(US);Hereditary cancer-predisposing syndrome(LP) 1/10/2018 8.7 0.25 PLP 3 128130 Simple 377626805 A . CI 1 7 not specified(US);Hereditary cancer-predisposing syndrome(LB);Familial cancer of breast(LB);Familial cancer of breast(LB);Fanconi anemia(US);Hereditary cancer-predisposing syndrome(US);Hereditary cancer-predisposing syndrome(US) 12/20/2017 -9.6 1.142857143 BLB 3 128133 Simple 587778587 T . CI 1 5 Hereditary cancer-predisposing syndrome(US);Familial cancer of breast(LB);Fanconi anemia(LB);Hereditary cancer-predisposing syndrome(LB);not specified(US) 1/4/2018 -9.6 0.6 BLB 3 128187 Simple 145855459 G . CI 1 6 "not specified(LB);Hereditary cancer-predisposing syndrome(LB);Familial cancer of breast(LB);Fanconi anemia, complementation group J(LB);Fanconi anemia, complementation group J(US);Neoplasm of ovary(US);not provided(B)" 1/4/2018 -15.6 0.666666667 BLB 3 128206 Simple 587780256 C . CI 1 7 "not specified(LB);Hereditary cancer-predisposing syndrome(LB);Fanconi anemia, complementation group O(US);Fanconi anemia, complementation group O(US);Breast-ovarian cancer, familial 3(US);Hereditary cancer-predisposing syndrome(LB);not provided(B)" 12/6/2017 -14.7 1 BLB 3 128211 Simple 147241704 A . CI 1 8 "not specified(LB);Fanconi anemia, complementation group O(B);Hereditary cancer-predisposing syndrome(US);not specified(US);Hereditary cancer-predisposing syndrome(US);not specified(US);Hereditary cancer-predisposing syndrome(B);not provided(B)" 3/5/2018 -21.57 0.875 BLB 3 128220 Simple 137876115 C . CI 1 3 not specified(US);not specified(B);not provided(LB) 1/16/2017 -9.21 2 BLB 3 128276 Simple 2228415 T . CI 1 5 not specified(B);not specified(B);Adenylosuccinate lyase deficiency(B);Adenylosuccinate lyase deficiency(US);not specified(B) 1/4/2018 -20.7 1.8 BLB 3 128314 Simple 144245019 A . CI 1 3 "not provided(US);not specified(B);Myasthenic syndrome, congenital, 8(B)" 2/18/2018 -12.21 1.333333333 BLB 3 128348 Simple 117295656 C . CI 1 5 not specified(B);not specified(B);Pyridoxine-dependent epilepsy(B);Pyridoxine-dependent epilepsy(US);not specified(LB) 1/10/2018 -17.7 2 BLB 3 128389 Simple 61746201 G . CI 1 4 "Limb-Girdle Muscular Dystrophy, Recessive(US);Miyoshi myopathy(US);not specified(B);Gnathodiaphyseal dysplasia(B);Limb-girdle muscular dystrophy, type 2L(B)" 1/8/2018 -12.6 0.75 BLB 3 128419 Simple 1801695 T . CI 1 8 "Familial hypercholesterolemia(US);Familial hypercholesterolemia(LB);not specified(B);Hypercholesterolemia, autosomal dominant, type B(B);Hypobetalipoproteinemia, familial, 1(B);Familial hypercholesterolemia(US);Familial hypercholesterolemia(B);not specified(US);Familial hypercholesterolemia(B)" 8/11/2017 -27.18 1.375 B 3 128421 Simple 12691202 T . CI 1 9 "Familial hypercholesterolemia(US);Familial hypercholesterolemia(LB);Hypercholesterolemia, autosomal dominant, type B(B);Hypobetalipoproteinemia, familial, 1(B);Familial hypercholesterolemia(US);Hypobetalipoproteinemia, familial, 1(LB);Familial hypercholesterolemia(B);not specified(B);not specified(US);Familial hypercholesterolemia(B)" 8/18/2017 -30.18 1.222222222 B 3 128423 Simple 533617 C . CI 1 8 "Familial hypercholesterolemia(LB);Familial hypercholesterolemia(LB);Hypercholesterolemia, autosomal dominant, type B(B);Hypobetalipoproteinemia, familial, 1(B);Familial hypercholesterolemia(LB);Familial hypercholesterolemia(B);not specified(B);not specified(US);Familial hypercholesterolemia(B)" 8/17/2017 -31.44 1.375 B 3 128433 Simple 73113975 T . CI 1 4 Periventricular Heterotopia(US);not provided(LB);not specified(B);not specified(B) 1/26/2017 -15.3 1 BLB 3 128436 Simple 61748373 A . CI 1 3 not specified(B);not specified(B);Periventricular Heterotopia(US) 6/14/2016 -9.3 2.666666667 BLB 3 128445 Simple 149172723 T . CI 1 5 not specified(B);not specified(US);Periventricular Heterotopia(US);not specified(B);not specified(LB) 7/6/2017 -13.14 2 BLB 3 128456 Simple 1800058 T . CI 1 9 not specified(B);Hereditary cancer-predisposing syndrome(US);not specified(B);Hereditary cancer-predisposing syndrome(B);not specified(B);Hereditary cancer-predisposing syndrome(B);not specified(B);Ataxia-telangiectasia syndrome(LB);Ataxia-telangiectasia syndrome(B) 8/29/2017 -39.9 1.888888889 B 3 128485 Simple 116711766 A . CI 1 6 not specified(LB);not specified(US);not specified(LB);Familial hemiplegic migraine(LB);not provided(LB);not specified(B) 1/5/2018 -17.34 1.333333333 BLB 3 128532 Simple 145649423 G . CI 1 6 "not specified(LB);not specified(LB);Charcot-Marie-Tooth disease, type 2(B);not specified(LB);Congenital generalized lipodystrophy(LB);Neurologic Disorders/Seipinopathy(LB)" 2/27/2018 -20.4 1 BLB 3 128748 Simple 6089898 G . CI 1 4 not provided(US);not specified(B);not specified(B);Autosomal dominant nocturnal frontal lobe epilepsy(B) 1/3/2018 -16.41 2.25 BLB 3 128753 Simple 76001008 T . CI 1 3 "Congenital Myasthenic Syndrome, Dominant/Recessive(US);not specified(B);Myasthenic syndrome, congenital, 2a, slow-channel(B)" 8/1/2017 -11.7 1 BLB 3 128764 Simple 139171143 G . CI 1 4 "not specified(B);Congenital Myasthenic Syndrome, Dominant/Recessive(US);not specified(LB);Myasthenic syndrome, congenital, 4a, slow-channel(B)" 7/27/2017 -14.1 1.25 BLB 3 128775 Simple 146610181 T . CI 1 4 "not specified(B);not provided(LB);Neuronal ceroid lipofuscinosis(B);Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive(US)" 1/3/2018 -12.9 2 BLB 3 128805 Simple 141078449 T . CI 1 6 not specified(LB);not specified(B);not specified(US);Cortical dysplasia-focal epilepsy syndrome(US);Pitt-Hopkins-like syndrome(US);Cortical dysplasia-focal epilepsy syndrome(LB) 12/19/2017 -10.17 2 BLB 3 128813 Simple 150686304 A . CI 1 6 not specified(LB);Collagen VI-related myopathy(LB);Bethlem myopathy 1(US);Ullrich congenital muscular dystrophy 1(US);Bethlem myopathy 1(LB);not provided(US);not specified(LB) 9/29/2017 -12.21 1.333333333 BLB 3 128816 Simple 34741387 A . CI 1 3 not provided(US);not specified(B);Bethlem myopathy 1(B) 1/18/2018 -12.21 1.333333333 BLB 3 128819 Simple 146092501 T . CI 1 7 not specified(B);not specified(B);not specified(US);not provided(LB);Collagen VI-related myopathy(LB);Bethlem myopathy 1(B);not specified(B) 1/12/2018 -28.77 1.428571429 B 3 128870 Simple 149019571 T . CI 1 4 "not specified(B);Neuronal ceroid lipofuscinosis(B);Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive(US);Ceroid lipofuscinosis neuronal 10(B)" 12/27/2017 -14.7 2.25 BLB 3 128872 Simple 138733377 T . CI 1 3 "Neuronal ceroid lipofuscinosis(B);Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive(US);Ceroid lipofuscinosis neuronal 10(B)" 8/3/2017 -11.7 1 BLB 3 128918 Simple 35334863 A . CI 1 3 Congenital disorder of glycosylation(US);not specified(B);Congenital disorder of glycosylation type 1u(B) 11/18/2017 -11.7 1 BLB 3 128945 Simple 75796187 C . CI 1 4 "Miyoshi myopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);not specified(B);Dysferlinopathy(B)" 1/3/2018 -12.6 0.75 BLB 3 128964 Simple 369503191 C . CI 1 5 not provided(US);not specified(B);not specified(LB);Juvenile myoclonic epilepsy(US);Epilepsy juvenile absence(B);Juvenile myoclonic epilepsy(B) 6/7/2017 -14.01 2 BLB 3 129003 Simple 187930476 T . CI 1 4 not specified(B);not specified(B);not specified(B);Progressive myoclonic epilepsy(B) 1/4/2018 -21 2 BLB 3 129006 Simple 145030227 T . CI 1 4 not specified(LB);not specified(B);not specified(US);Progressive myoclonic epilepsy(B) 10/31/2017 -12.51 3 BLB 3 129057 Simple 148206382 A . CI 1 5 not specified(LB);not specified(LB);not specified(B);Walker-Warburg congenital muscular dystrophy(LB);not specified(LB) 12/27/2017 -15.6 1.6 BLB 3 129059 Simple 200278701 T . CI 1 6 "not provided(US);not specified(LB);not specified(LB);not specified(B);Periventricular nodular heterotopia 1(B);Melnick-Needles syndrome(B);Oto-palato-digital syndrome, type II(B);Frontometaphyseal dysplasia(B);Cardiovascular phenotype(B)" 5/22/2017 -23.31 1.833333333 BLB 3 129060 Simple 202029322 A . CI 1 5 "not provided(US);not specified(LB);not provided(LB);Periventricular nodular heterotopia 1(B);Melnick-Needles syndrome(B);Oto-palato-digital syndrome, type II(B);Frontometaphyseal dysplasia(B);Cardiovascular phenotype(LB)" 11/13/2017 -15.18 1.4 BLB 3 129062 Simple 370868704 T . CI 1 4 "not provided(US);not specified(B);not specified(US);Periventricular nodular heterotopia 1(B);Melnick-Needles syndrome(B);Oto-palato-digital syndrome, type II(B);Frontometaphyseal dysplasia(B)" 3/7/2017 -11.28 2.5 BLB 3 129066 Simple 199565118 T . CI 1 4 "not provided(US);not specified(B);not specified(US);Periventricular nodular heterotopia 1(B);Melnick-Needles syndrome(B);Oto-palato-digital syndrome, type II(B);Frontometaphyseal dysplasia(B)" 3/25/2017 -11.25 2.75 BLB 3 129068 Simple 371501734 A . CI 1 4 "not provided(US);not specified(US);not specified(B);Periventricular nodular heterotopia 1(LB);Melnick-Needles syndrome(LB);Oto-palato-digital syndrome, type II(LB);Frontometaphyseal dysplasia(LB)" 12/6/2017 -8.91 1.75 BLB 3 129070 Simple 199911951 T . CI 1 4 "not provided(US);not specified(US);Periventricular nodular heterotopia 1(B);Melnick-Needles syndrome(B);Oto-palato-digital syndrome, type II(B);Frontometaphyseal dysplasia(B);Cardiovascular phenotype(LB)" 8/31/2017 -9.51 1.5 BLB 3 129112 Simple 148346044 C . CI 1 4 not specified(LB);not specified(B);not specified(LB);Mitochondrial complex I deficiency(US) 9/5/2016 -10.2 2 BLB 3 129121 Simple 2289536 A . CI 1 5 "not specified(B);not specified(B);Glycogen storage disease, type II(US);not specified(B);Glycogen storage disease, type II(B)" 1/3/2018 -22.5 1.4 BLB 3 129152 Simple 2230300 G . CI 1 3 "Congenital Myasthenic Syndrome, Recessive(US);not specified(B);Congenital myasthenic syndrome 12(B)" 8/4/2017 -12.3 0.666666667 BLB 3 129186 Simple 372083517 A . CI 1 4 "not provided(US);not specified(US);Epilepsy, focal, with speech disorder and with or without mental retardation(LB);Epilepsy, focal, with speech disorder and with or without mental retardation(B)" 8/1/2017 -9.45 2 BLB 3 129242 Simple 11551349 C . CI 1 4 "not provided(US);not specified(B);Spastic paraplegia(B);Spastic Paraplegia, Dominant(LB)" 9/8/2017 -13.41 2.25 BLB 3 129271 Simple 10870182 G . CI 1 4 not specified(B);Joubert syndrome(US);not specified(B);Joubert syndrome(B) 10/2/2017 -15.9 1.75 BLB 3 129282 Simple 371450118 T . CI 1 3 "not provided(US);not specified(B);Mental retardation, X-linked 1(B)" 12/8/2017 -11.61 2 BLB 3 129285 Simple 141625803 G . CI 1 4 "not specified(B);Congenital Muscular Dystrophy, alpha-dystroglycan related(US);not specified(LB);Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7(B);Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7(B)" 1/4/2018 -14.7 1 BLB 3 129293 Simple 17854601 A . CI 1 3 "Congenital Muscular Dystrophy, ITGA7-related(US);not specified(B);Muscular dystrophy, congenital, due to integrin alpha-7 deficiency(B)" 7/31/2017 -11.7 1 BLB 3 129294 Simple 17117883 C . CI 1 3 "Congenital Muscular Dystrophy, ITGA7-related(US);not specified(B);Muscular dystrophy, congenital, due to integrin alpha-7 deficiency(B)" 8/7/2017 -11.7 1 BLB 3 129295 Simple 17117879 G . CI 1 3 "Congenital Muscular Dystrophy, ITGA7-related(US);not specified(B);Muscular dystrophy, congenital, due to integrin alpha-7 deficiency(B)" 12/21/2017 -12.3 0.666666667 BLB 3 129297 Simple 148170949 A . CI 1 5 "not specified(LB);not specified(B);Congenital Muscular Dystrophy, ITGA7-related(US);not specified(LB);Muscular dystrophy, congenital, due to integrin alpha-7 deficiency(B)" 2/8/2018 -15.6 1.8 BLB 3 129326 Simple 45527834 A . CI 1 6 not specified(LB);not specified(B);Generalized epilepsy and paroxysmal dyskinesia(US);Generalized epilepsy and paroxysmal dyskinesia(B);Generalized epilepsy and paroxysmal dyskinesia(LB);Generalized epilepsy and paroxysmal dyskinesia(LB) 1/12/2018 -17.7 2.333333333 BLB 3 129343 Simple 587780369 A . CI 1 4 not specified(LB);not specified(LB);not specified(LB);Early infantile epileptic encephalopathy(LB) 10/12/2017 -10.5 2 BLB 3 129354 Simple 143355299 G . CI 1 3 "not provided(US);Early infantile epileptic encephalopathy 14(B);Epilepsy, nocturnal frontal lobe, 5(B);not specified(B)" 10/16/2017 -12.21 1.333333333 BLB 3 129397 Simple 190997558 T . CI 1 4 "not provided(US);not specified(LB);Spastic paraplegia 30, autosomal recessive(B);Hereditary sensory and autonomic neuropathy type IIC(B);Mental retardation, autosomal dominant 9(B);not specified(LB)" 12/9/2017 -12.21 1.25 BLB 3 129435 Simple 35879899 G . CI 1 3 "Congenital Muscular Dystrophy, LAMA2-related(US);not specified(B);Laminin alpha 2-related dystrophy(B)" 9/28/2017 -12.3 0.666666667 BLB 3 129437 Simple 35065563 G . CI 1 4 "Congenital Muscular Dystrophy, LAMA2-related(US);not provided(LB);not specified(LB);Laminin alpha 2-related dystrophy(B)" 1/2/2018 -12.3 0.75 BLB 3 129447 Simple 61749497 T . CI 1 3 "Congenital Muscular Dystrophy, LAMA2-related(US);not specified(B);Laminin alpha 2-related dystrophy(B)" 1/4/2018 -12.3 0.666666667 BLB 3 129529 Simple 116456291 T . CI 1 3 not specified(B);Donnai Barrow syndrome(US);not provided(LB) 2/27/2017 -8.7 1.333333333 BLB 3 129591 Simple 587780391 A . CI 1 4 not provided(US);not specified(US);FG syndrome(B);not specified(LB) 8/18/2017 -9.42 2.25 BLB 3 129610 Simple 115275192 C . CI 1 4 "not specified(B);not specified(B);Ceroid lipofuscinosis neuronal 7(B);Neuronal Ceroid-Lipofuscinosis, Recessive(US)" 1/12/2018 -14.1 2.5 BLB 3 129611 Simple 145529594 A . CI 1 4 "not specified(B);not specified(B);Neuronal Ceroid-Lipofuscinosis, Recessive(US);Ceroid lipofuscinosis neuronal 7(B)" 12/18/2017 -15.3 2 BLB 3 129631 Simple 143701488 T . CI 1 3 "not specified(LB);Congenital Myasthenic Syndrome, Recessive(US);Pena-Shokeir syndrome type I(B);Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency(B)" 12/27/2017 -8.7 1.333333333 BLB 3 129713 Simple 145252235 T . CI 1 3 "Nemaline Myopathy, Recessive(US);not specified(B);Nemaline myopathy 2(B)" 7/19/2017 -11.7 1 BLB 3 129716 Simple 115631125 A . CI 1 4 "not specified(B);Nemaline Myopathy, Recessive(US);Nemaline myopathy 2(B);not specified(B)" 1/11/2018 -16.5 1.5 BLB 3 129718 Simple 16830216 A . CI 1 3 "Nemaline Myopathy, Recessive(US);not specified(B);Nemaline myopathy 2(B)" 12/26/2017 -12.3 0.666666667 BLB 3 129723 Simple 34555492 A . CI 1 3 "Nemaline Myopathy, Recessive(US);not specified(B);Nemaline myopathy 2(B)" 8/4/2017 -11.7 1 BLB 3 129724 Simple 62167164 C . CI 1 5 "Nemaline Myopathy, Recessive(US);not specified(B);not specified(LB);Nemaline myopathy 2(B);not specified(B)" 1/9/2018 -20.7 0.8 BLB 3 129725 Simple 16830170 A . CI 1 3 "Nemaline Myopathy, Recessive(US);not specified(B);Nemaline myopathy 2(B)" 12/26/2017 -12.3 0.666666667 BLB 3 129726 Simple 34718443 A . CI 1 6 "not specified(B);not specified(B);Nemaline Myopathy, Recessive(US);not specified(LB);not specified(B);Nemaline myopathy 2(B)" 1/11/2018 -24.3 1.5 BLB 3 129748 Simple 35686968 G . CI 1 3 not provided(US);not specified(B);Nemaline myopathy 2(B) 8/8/2017 -11.61 2 BLB 3 129820 Simple 116236999 A . CI 1 3 not specified(B);Pitt-Hopkins-like syndrome 2(B);Pitt-Hopkins-like syndrome(US) 12/20/2017 -9.3 2.333333333 BLB 3 129824 Simple 55923848 C . CI 1 4 not specified(B);not specified(US);not specified(LB);Pitt-Hopkins-like syndrome 2(LB) 12/19/2017 -9.84 2.25 BLB 3 129885 Simple 142645936 G . CI 1 4 not specified(LB);not specified(B);Zellweger syndrome(US);not provided(LB) 11/15/2016 -11.7 1.5 BLB 3 129900 Simple 45466294 C . CI 1 3 "not specified(B);Early Infantile Epileptic Encephalopathy, Autosomal Recessive(US);Early infantile epileptic encephalopathy 12(B)" 11/13/2017 -11.7 1 BLB 3 129902 Simple 45608240 G . CI 1 6 "not specified(LB);not specified(US);Early Infantile Epileptic Encephalopathy, Autosomal Recessive(US);Early infantile epileptic encephalopathy 12(B);Early infantile epileptic encephalopathy 12(LB);Early infantile epileptic encephalopathy 12(LB)" 1/12/2018 -14.34 1.666666667 BLB 3 129904 Simple 61755434 G . CI 1 4 "not provided(LB);Early Infantile Epileptic Encephalopathy, Autosomal Recessive(US);Early infantile epileptic encephalopathy 12(B);not specified(LB)" 12/28/2017 -12 0.75 BLB 3 129909 Simple 45464693 A . CI 1 4 "not specified(LB);not specified(B);Early infantile epileptic encephalopathy 12(B);Early Infantile Epileptic Encephalopathy, Autosomal Recessive(US)" 1/10/2018 -13.5 2 BLB 3 129930 Simple 202116866 A . CI 1 5 "not specified(LB);not specified(US);not specified(LB);not specified(LB);Epidermolysa bullosa simplex and limb girdle muscular dystrophy(LB);Epidermolysis bullosa simplex, Ogna type(LB);Epidermolysis bullosa simplex with pyloric atresia(LB);Limb-girdle muscular dystrophy, type 2Q(LB);Epidermolysis bullosa simplex with nail dystrophy(LB)" 2/6/2018 -11.4 1.2 BLB 3 129976 Simple 62031146 A . CI 1 4 Congenital disorder of glycosylation(US);not specified(B);Carbohydrate-deficient glycoprotein syndrome type I(B);not specified(B) 5/25/2017 -17.1 1.5 BLB 3 129997 Simple 62640037 G . CI 1 3 not specified(B);POLG-Related Spectrum Disorders(US);Progressive sclerosing poliodystrophy(B) 10/19/2017 -10.5 1.666666667 BLB 3 129998 Simple 115048121 C . CI 1 3 not specified(B);Fanconi anemia(US);Progressive sclerosing poliodystrophy(B) 10/19/2017 -9.9 2 BLB 3 130005 Simple 35242383 T . CI 1 4 "not specified(B);Limb-Girdle Muscular Dystrophy, Recessive(US);Limb-girdle muscular dystrophy-dystroglycanopathy, type C1(B);Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1(B);Walker-Warburg congenital muscular dystrophy(B);Limb-girdle muscular dystrophy-dystroglycanopathy, type C1(B);Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1(B);Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1(B)" 12/21/2017 -17.1 1.25 BLB 3 130009 Simple 140258585 A . CI 1 4 "not specified(B);Limb-Girdle Muscular Dystrophy, Recessive(US);not specified(B);not specified(B)" 6/14/2016 -14.7 2.5 BLB 3 130013 Simple 149554732 A . CI 1 4 "not specified(B);Limb-Girdle Muscular Dystrophy, Recessive(US);not specified(B);Limb-girdle muscular dystrophy-dystroglycanopathy, type C1(B);Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1(B);Walker-Warburg congenital muscular dystrophy(B)" 10/30/2017 -16.5 1.5 BLB 3 130039 Simple 140383655 A . CI 1 4 not provided(US);not specified(LB);Dystonia 10(LB);not specified(LB) 1/4/2018 -9.21 1.25 BLB 3 130068 Simple 61748693 T . CI 1 3 not specified(B);Warburg micro syndrome(US);not specified(B) 6/14/2016 -10.5 2 BLB 3 130094 Simple 73496064 A . CI 1 3 not specified(B);not specified(B);Pontoneocerebellar hypoplasia(US) 4/24/2017 -10.5 2 BLB 3 130125 Simple 2229860 C . CI 1 5 "not specified(B);not specified(B);not provided(LB);not specified(LB);Lissencephaly 2(B);Epilepsy, familial temporal lobe, 7(B)" 1/3/2018 -22.8 1.2 BLB 3 130126 Simple 115913736 A . CI 1 6 "not specified(LB);not specified(B);not specified(LB);not provided(LB);not specified(US);Lissencephaly 2(B);Epilepsy, familial temporal lobe, 7(B)" 12/18/2017 -18.9 1.5 BLB 3 130129 Simple 2711866 C . CI 1 3 "Lissencephaly, Recessive(US);not specified(B);Lissencephaly 2(B);Epilepsy, familial temporal lobe, 7(B)" 11/6/2017 -12.3 0.666666667 BLB 3 130133 Simple 116716038 T . CI 1 5 "not specified(B);Lissencephaly, Recessive(US);not provided(LB);not specified(LB);Lissencephaly 2(B);Epilepsy, familial temporal lobe, 7(B)" 12/29/2017 -18.3 0.8 BLB 3 130211 Simple 139815570 A . CI 1 5 "not provided(US);not specified(B);Early Infantile Epileptic Encephalopathy, Autosomal Dominant(LB);Benign familial neonatal-infantile seizures(LB);Benign familial neonatal-infantile seizures(B);Early infantile epileptic encephalopathy 11(B)" 1/3/2018 -15.78 2.4 BLB 3 130214 Simple 147522594 C . CI 1 6 "not specified(LB);not specified(US);not specified(LB);Early Infantile Epileptic Encephalopathy, Autosomal Dominant(LB);Benign familial neonatal-infantile seizures(LB);Benign familial neonatal-infantile seizures(LB);Early infantile epileptic encephalopathy 11(LB)" 7/12/2017 -14.94 1.333333333 BLB 3 130252 Simple 587780455 G . CI 1 5 not provided(US);not provided(P);not specified(US);Focal epilepsy(LP);Early infantile epileptic encephalopathy(P) 7/31/2017 14.52 1.6 PLP 3 130260 Simple 199692186 C . CI 1 11 "Severe myoclonic epilepsy in infancy(LB);Generalized epilepsy with febrile seizures plus(LB);Small fiber neuropathy(LB);Familial Febrile Seizures(LB);Inherited Erythromelalgia(LB);Congenital Indifference to Pain(LB);Paroxysmal extreme pain disorder(LB);Hereditary sensory and autonomic neuropathy type IIA(LB);Generalized epilepsy with febrile seizures plus, type 7(LB);not specified(US);not provided(US);not specified(US)" 10/31/2017 -24.81 1.181818182 BLB 3 130265 Simple 141268327 C . CI 1 13 "Severe myoclonic epilepsy in infancy(LB);Paroxysmal extreme pain disorder(LB);Generalized epilepsy with febrile seizures plus(LB);Small fiber neuropathy(LB);Inherited Erythromelalgia(LB);Familial Febrile Seizures(LB);Congenital Indifference to Pain(LB);not provided(LB);not specified(LB);not specified(LB);not specified(LB);Hereditary sensory and autonomic neuropathy type IIA(B);Generalized epilepsy with febrile seizures plus, type 7(B);not specified(B)" 2/5/2018 -43.2 1.230769231 B 3 130284 Simple 35019869 G . CI 1 4 SEPN1-Related Disorders(US);not specified(B);Eichsfeld type congenital muscular dystrophy(B);not specified(B) 7/31/2017 -17.7 0.75 BLB 3 130301 Simple 80227512 A . CI 1 5 "not provided(US);not specified(B);Charcot-Marie-Tooth disease, type IV(B);Charcot-Marie-Tooth, Type 4(US);Mononeuropathy of the Median Nerve(US)" 1/6/2018 -11.01 2 BLB 3 130365 Simple 76389165 C . CI 1 6 "Spastic paraplegia 11, autosomal recessive(B);Hereditary spastic paraplegia(US);not provided(LB);not specified(B);Spastic paraplegia 11, autosomal recessive(B);Spastic paraplegia 11, autosomal recessive(LB)" 11/21/2017 -23.1 1 BLB 3 130366 Simple 150761878 A . CI 1 5 "not provided(US);Spastic Paraplegia, Recessive(US);Spastic paraplegia 11, autosomal recessive(B);not specified(B);Spastic paraplegia 11, autosomal recessive(LB)" 1/4/2018 -15.51 1 BLB 3 130454 Simple 150912982 A . CI 1 5 "not provided(US);Emery-Dreifuss muscular dystrophy(LB);Cerebellar ataxia(LB);not specified(B);Spinocerebellar ataxia, autosomal recessive 8(B);Emery-Dreifuss muscular dystrophy 4, autosomal dominant(B)" 12/26/2017 -18.21 1.2 BLB 3 130535 Simple 184639841 T . CI 1 7 "not specified(LB);not specified(B);not specified(B);not specified(B);Myoclonic epilepsy, familial infantile(US);Epileptic encephalopathy, early infantile, 1(B);Deafness, autosomal dominant 65(B);Caused by mutation in the TBC1 domain family, member 24(B);not specified(LB)" 12/29/2017 -25.2 2.285714286 BLB 3 130607 Simple 117942457 A . CI 1 3 "not specified(B);Neuronal ceroid lipofuscinosis(B);Neuronal Ceroid-Lipofuscinosis, Recessive(US)" 12/27/2017 -9.9 2 BLB 3 130609 Simple 140726254 A . CI 1 4 "not provided(US);not specified(B);Neuronal ceroid lipofuscinosis(B);Neuronal Ceroid-Lipofuscinosis, Recessive(US)" 12/29/2017 -10.71 2.25 BLB 3 130651 Simple 139441507 A . CI 1 5 Joubert syndrome(US);Jeune thoracic dystrophy(US);not specified(LB);not specified(B);not provided(US) 1/25/2017 -9.81 1.6 BLB 3 130659 Simple 74447004 T . CI 1 5 Joubert syndrome(US);Jeune thoracic dystrophy(US);Jeune thoracic dystrophy(B);Nephronophthisis(B);not specified(B);not provided(US) 11/28/2017 -12.81 1.4 BLB 3 130664 Simple 72648994 C . CI 1 7 "not provided(US);not specified(LB);not specified(B);not provided(US);not specified(B);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B)" 12/27/2017 -24.42 2.571428571 BLB 3 130665 Simple 587780487 . . CI 1 3 "not provided(US);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(B)" 1/30/2018 -12.21 1.333333333 BLB 3 130680 Simple 56341835 T . CI 1 12 "not provided(US);not specified(US);not provided(LB);not specified(LB);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);not specified(US);Dilated Cardiomyopathy, Dominant(US);Distal myopathy Markesbery-Griggs type(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Hypertrophic cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US)" 1/9/2018 -10.68 1.416666667 BLB 3 130683 Simple 114026724 G . CI 1 5 "not provided(US);not specified(B);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Cardiovascular phenotype(B)" 1/5/2018 -18.81 3.2 BLB 3 130688 Simple 141258018 T . CI 1 11 "not provided(US);not provided(US);not specified(B);not specified(LB);Dilated Cardiomyopathy, Dominant(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Hypertrophic cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Distal myopathy Markesbery-Griggs type(US);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B)" 4/21/2017 -16.92 1.636363636 BLB 3 130689 Simple 528502993 A . CI 1 4 "not specified(B);Cardiovascular phenotype(LB);not specified(US);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB)" 6/13/2017 -9.3 2.5 BLB 3 130690 Simple 148525155 G . CI 1 6 "not provided(US);not specified(B);not provided(US);not specified(B);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B)" 12/27/2017 -22.62 2.333333333 BLB 3 130706 Simple 79720897 T . CI 1 4 not specified(B);not specified(B);not specified(B);Congenital cerebellar hypoplasia(US) 6/14/2016 -14.1 2.75 BLB 3 130716 Simple 116746734 A . CI 1 4 not specified(B);not specified(B);Cohen syndrome(US);Cohen syndrome(B) 1/12/2018 -16.5 1.5 BLB 3 130717 Simple 138127778 T . CI 1 5 Cohen syndrome(US);not provided(LB);not specified(LB);Cohen syndrome(B);not specified(B) 12/27/2017 -15.9 1.8 BLB 3 130748 Simple 35932623 T . CI 1 7 "not specified(B);not specified(B);not specified(US);not specified(LB);WFS1-Related Spectrum Disorders(LB);Nonsyndromic Hearing Loss, Dominant(LB);Monogenic diabetes(US)" 1/31/2017 -17.67 2.142857143 BLB 3 130846 Simple 182004761 A . CI 1 4 not provided(US);not specified(B);Non-syndromic X-linked intellectual disability(LB);not specified(LB) 6/14/2016 -11.31 2.25 BLB 3 132679 Simple 142511345 A . CI 1 8 Long QT syndrome(US);not specified(LB);Jervell and Lange-Nielsen syndrome(LB);Romano-Ward syndrome(LB);Long QT syndrome(LB);not specified(LB);Cardiovascular phenotype(US);Long QT syndrome(US) 11/27/2017 -14.91 1.625 BLB 3 132694 Simple 200074800 A . CI 1 4 "Renal cell carcinoma, papillary, 1(LB);Renal cell carcinoma, papillary, 1(LB);not specified(US);Hereditary cancer-predisposing syndrome(LB)" 1/4/2018 -9.3 0.25 BLB 3 132703 Simple 3219488 A . CI 1 6 MYH-associated polyposis(LB);not specified(B);Hereditary cancer-predisposing syndrome(LB);not specified(US);not specified(LB);not provided(US) 1/9/2018 -13.71 1.666666667 BLB 3 132709 Simple 587780537 A . CI 1 6 Hereditary diffuse gastric cancer(LP);not specified(US);Hereditary cancer-predisposing syndrome(LP);Hereditary cancer-predisposing syndrome(P);Hereditary diffuse gastric cancer(LP);not provided(LP) 11/10/2017 17.4 0.666666667 P 3 132723 Simple 147067171 C . CI 1 4 Gorlin syndrome(B);Irido-corneo-trabecular dysgenesis(LP);Rieger syndrome(LP);Hereditary cancer-predisposing syndrome(B);not provided(LB) 1/13/2018 -13.2 1.75 BLB 3 132727 Simple 369579749 A . CI 1 5 "Multiple endocrine neoplasia, type 2(US);Multiple endocrine neoplasia, type 2b(LB);Multiple endocrine neoplasia, type 2a(LB);Hereditary cancer-predisposing syndrome(LB);not specified(LB)" 10/31/2017 -11.7 1 BLB 3 132736 Simple 1800056 C . CI 1 10 not specified(B);Hereditary cancer-predisposing syndrome(B);not specified(B);Hereditary cancer-predisposing syndrome(B);Hereditary cancer-predisposing syndrome(B);not specified(B);Hereditary cancer-predisposing syndrome(LB);not provided(B);Ataxia-telangiectasia syndrome(LB);Ataxia-telangiectasia syndrome(B) 1/14/2018 -46.2 2.2 B 3 132737 Simple 200151646 G . CI 1 6 Familial adenomatous polyposis 1(B);not specified(LB);Hereditary cancer-predisposing syndrome(LB);APC-Associated Polyposis Disorders(US);not specified(US);Hereditary cancer-predisposing syndrome(LB) 3/14/2018 -15 1 BLB 3 132752 Simple 587780552 A . CI 1 4 "Familial cancer of breast(LB);Fanconi anemia, complementation group J(LB);Hereditary cancer-predisposing syndrome(US);Hereditary cancer-predisposing syndrome(LB);not specified(LB)" 10/17/2017 -9 0.75 BLB 3 132757 Simple 3218690 C . CI 1 8 Ataxia-telangiectasia syndrome(B);not specified(B);Hereditary cancer-predisposing syndrome(LB);not specified(LB);Hereditary cancer-predisposing syndrome(B);not provided(B);not specified(LB);Ataxia-telangiectasia syndrome(LB) 1/8/2018 -31.8 1.75 B 3 132782 Simple 276174816 - . CI 1 7 "Breast-ovarian cancer, familial 2(B);not specified(B);not specified(US);not specified(B);Hereditary cancer-predisposing syndrome(LB);Breast-ovarian cancer, familial 2(B);Hereditary breast and ovarian cancer syndrome(B)" 1/15/2018 -29.7 1.857142857 B 3 132941 Simple 483352833 A . CI 1 3 not specified(B);Familial hypertrophic cardiomyopathy 2(B);Left ventricular noncompaction 6(B);Familial restrictive cardiomyopathy 3(B);not specified(LB) 11/6/2017 -13.8 1 BLB 3 133010 Simple 3745845 T . CI 1 6 "not provided(US);Central core disease(LB);Malignant hyperthermia susceptibility(LB);Neuromuscular disease, congenital, with uniform type 1 fiber(LB);Multiminicore Disease(LB);not specified(LB)" 11/22/2017 -15.18 1.5 BLB 3 133012 Simple 193922839 A . CI 1 4 not provided(P);Scoliosis(US);Proximal muscle weakness(US);Delayed gross motor development(US);Pelvic girdle muscle weakness(US);Progressive distal muscle weakness(US);not provided(LP);Malignant hyperthermia susceptibility(P);Skeletal muscle disease(P) 11/1/2017 14.46 1.5 PLP 3 133076 Simple 147723844 G . CI 1 10 "not provided(US);Malignant hyperthermia(US);Malignant hyperthermia, susceptibility to, 1(US);not specified(US);Central core disease(LB);Malignant hyperthermia susceptibility(LB);Neuromuscular disease, congenital, with uniform type 1 fiber(LB);Multiminicore Disease(LB);RYR1-Related Disorders(US);not specified(LB)" 3/7/2018 -16.2 1.8 BLB 3 133111 Simple 146104858 A . CI 1 8 "not specified(US);Neuromuscular disease, congenital, with uniform type 1 fiber(LB);Malignant hyperthermia susceptibility(LB);Multiminicore Disease(LB);Central core disease(LB);not specified(LB);not specified(LB);RYR1-Related Disorders(B)" 2/5/2018 -24.27 0.875 BLB 3 133122 Simple 180714609 A . CI 1 6 "not specified(US);Neuromuscular disease, congenital, with uniform type 1 fiber(LB);Multiminicore Disease(LB);Central core disease(LB);Malignant hyperthermia susceptibility(LB);not specified(US)" 9/7/2017 -12.6 0.833333333 BLB 3 133173 Simple 34390345 G . CI 1 7 "Malignant hyperthermia, susceptibility to, 1(LB);Neuromuscular disease, congenital, with uniform type 1 fiber(LB);Central core disease(LB);Malignant hyperthermia susceptibility(LB);Multiminicore Disease(LB);not specified(US);RYR1-Related Disorders(US)" 12/15/2017 -14.7 1.285714286 BLB 3 133306 Simple 149704197 - . CI 1 5 Galactosylceramide beta-galactosidase deficiency(B);Metachromatic leukodystrophy(B);Combined saposin deficiency(B);Atypical Gaucher Disease(B);not specified(B) 3/16/2017 -30 1 B 3 133509 Simple 138933660 C . CI 1 5 Hereditary cancer-predisposing syndrome(LB);Familial adenomatous polyposis 1(B);not specified(LB);Familial adenomatous polyposis 1(US);not provided(LB) 10/31/2017 -15.27 0.8 BLB 3 133510 Simple 141519952 G . CI 1 5 Familial adenomatous polyposis 1(B);Hereditary cancer-predisposing syndrome(B);not specified(LB);not specified(US);not provided(B) 2/28/2018 -19.5 1.2 BLB 3 133513 Simple 554356011 G . CI 1 4 Familial adenomatous polyposis 1(B);Familial adenomatous polyposis 1(US);not specified(LB);Hereditary cancer-predisposing syndrome(LB) 12/22/2017 -12.27 0.5 BLB 3 133522 Simple 141010008 T . CI 1 4 Familial adenomatous polyposis 1(US);Hereditary cancer-predisposing syndrome(B);not specified(LB);not provided(B) 1/3/2018 -14.1 1 BLB 3 133530 Simple 139387758 A . CI 1 5 not specified(B);Hereditary cancer-predisposing syndrome(B);Familial adenomatous polyposis 1(B);APC-Associated Polyposis Disorders(LB);not specified(LB) 1/22/2018 -21 1.8 BLB 3 133667 Simple 372586694 T . CI 1 4 not specified(US);Tumor susceptibility linked to germline BAP1 mutations(LB);Tumor susceptibility linked to germline BAP1 mutations(B);Hereditary cancer-predisposing syndrome(LB) 12/17/2017 -12.27 1 BLB 3 133717 Simple 35619497 T . CI 1 7 not specified(LB);Juvenile Polyposis(LB);not specified(US);not specified(US);not provided(LB);Juvenile polyposis syndrome(B);Hereditary cancer-predisposing syndrome(B) 1/12/2018 -20.1 1.142857143 BLB 3 133738 Simple 169547 C . CI 1 3 not specified(B);not specified(B);not specified(B) 8/8/2016 -16.8 1.666666667 BLB 3 133755 Simple 201869624 A . CI 1 5 "Hereditary cancer-predisposing syndrome(US);not specified(LB);Familial cancer of breast(B);Fanconi anemia, complementation group J(B);not specified(US);not provided(LB)" 1/4/2018 -12.6 0.4 BLB 3 133882 Simple 4987127 T . CI 1 5 Hereditary cutaneous melanoma(LB);not specified(US);Melanoma-pancreatic cancer syndrome(LB);not specified(LB);Hereditary cancer-predisposing syndrome(LB) 5/22/2017 -11.7 1.4 BLB 3 133965 Simple 114947750 A . CI 1 4 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome(B);Pleuropulmonary blastoma(LB);Hereditary cancer-predisposing syndrome(US);not specified(LB) 12/25/2017 -12.3 0.5 BLB 3 133971 Simple 544960260 - . CI 1 4 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome(B);Pleuropulmonary blastoma(LB);Hereditary cancer-predisposing syndrome(US);not specified(LB) 3/7/2018 -12.3 0.5 BLB 3 133978 Simple 144250390 A . CI 1 5 Peripheral neuropathy(US);not specified(LB);DNM2-related intermediate Charcot-Marie-Tooth neuropathy(B);not specified(US);not specified(B) 12/14/2017 -14.85 2.2 BLB 3 134248 Simple 34592408 C . CI 1 3 Fanconi anemia(US);Fanconi anemia(B);not specified(LB) 6/16/2017 -9 1 BLB 3 134256 Simple 17233141 C . CI 1 5 Fanconi anemia(B);Fanconi anemia(LB);not specified(LB);not specified(LB);not provided(LB) 1/10/2018 -17.4 1.2 BLB 3 134264 Simple 17233497 A . CI 1 3 Fanconi anemia(LB);Fanconi anemia(B);not specified(B) 1/25/2017 -15 1 BLB 3 134282 Simple 17227403 C . CI 1 3 not specified(US);Fanconi anemia(B);not specified(LB) 11/1/2017 -9.27 1 BLB 3 134305 Simple 1800365 A . CI 1 9 not specified(B);not specified(B);not specified(US);Fanconi anemia(B);Hereditary cancer-predisposing syndrome(B);not provided(LB);not specified(LB);not specified(LB);Hereditary cancer-predisposing syndrome(LB) 1/2/2018 -32.37 1.777777778 B 3 134319 Simple 36084488 C . CI 1 3 Fanconi anemia(US);not provided(B);Fanconi anemia(B) 12/5/2017 -12.3 0.666666667 BLB 3 134324 Simple 147675860 T . CI 1 3 Fanconi anemia(US);Fanconi anemia(B);not provided(LB) 8/2/2017 -9.3 0.333333333 BLB 3 134349 Simple 113910234 A . CI 1 4 not specified(B);not specified(LB);Fanconi anemia(B);Fanconi anemia(US) 1/2/2018 -14.7 1.25 BLB 3 134426 Simple 200168437 T . CI 1 5 Multiple fibrofolliculomas(US);Spontaneous pneumothorax(US);Multiple fibrofolliculomas(US);not specified(LB);Hereditary cancer-predisposing syndrome(B) 1/29/2018 -9.9 0.6 BLB 3 134573 Simple 3213409 T . CI 1 3 "not specified(LB);not specified(LB);Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative(B)" 1/4/2018 -11.7 1 BLB 3 134580 Simple 3212723 T . CI 1 3 "not specified(B);Severe Combined Immune Deficiency(LB);Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative(B)" 7/11/2017 -12.6 2 BLB 3 134711 Simple 112170602 C . CI 1 6 Kabuki syndrome 1(US);not specified(B);Kabuki syndrome(LB);not provided(LB);not specified(LB);Kabuki syndrome(LB) 10/28/2017 -16.98 1.833333333 BLB 3 134730 Simple 3782356 T . CI 1 3 Kabuki syndrome 1(US);Kabuki syndrome(LB);not provided(B) 8/2/2017 -9.18 2 BLB 3 134874 Simple 72563785 C . CI 1 9 "not specified(B);Hereditary cancer-predisposing syndrome(B);Microcephaly, normal intelligence and immunodeficiency(B);Hereditary cancer-predisposing syndrome(LB);Microcephaly, normal intelligence and immunodeficiency(US);not specified(B);not specified(B);Hereditary cancer-predisposing syndrome(B);not provided(B)" 1/25/2018 -39.6 2 B 3 134987 Simple 35586704 T . CI 1 3 not specified(LB);not specified(LB);Hajdu-Cheney syndrome(LB) 9/16/2017 -8.4 1.333333333 BLB 3 134996 Simple 587778586 T . CI 1 5 not specified(LB);Familial cancer of breast(LB);not specified(US);Hereditary cancer-predisposing syndrome(LB);not provided(US) 1/17/2018 -9.6 0.6 BLB 3 135066 Simple 115670442 C . CI 1 5 Hereditary cancer-predisposing syndrome(LB);Hereditary nonpolyposis colon cancer(LB);not specified(LB);not specified(LB);not provided(US) 1/16/2018 -12.3 0.4 BLB 3 135069 Simple 114090343 T . CI 1 7 not specified(B);Hereditary cancer-predisposing syndrome(LB);Hereditary nonpolyposis colon cancer(B);Lynch syndrome(US);not specified(LB);Hereditary cancer-predisposing syndrome(LB);not provided(LB) 1/2/2018 -22.2 1.428571429 BLB 3 135110 Simple 142274954 T . CI 1 4 Gorlin syndrome(B);Anophthalmia - microphthalmia(LB);not specified(LB);Hereditary cancer-predisposing syndrome(LB) 12/29/2017 -13.8 1.5 BLB 3 135147 Simple 34666647 T . CI 1 3 not specified(US);Baller-Gerold syndrome(B);not specified(LB) 1/10/2018 -9.27 1 BLB 3 135244 Simple 7238500 G . CI 1 6 Cardiovascular phenotype(LB);Juvenile polyposis syndrome(LB);not specified(US);not specified(US);Hereditary cancer-predisposing syndrome(US);not provided(LB) 1/3/2018 -9.9 0.333333333 BLB 3 135360 Simple 17881470 C . CI 1 4 not specified(LB);Hereditary cancer-predisposing syndrome(US);Li-Fraumeni syndrome(LB);not provided(LB) 2/14/2018 -9.3 0.25 BLB 3 135363 Simple 587778722 G . CI 1 3 not specified(LB);Tuberous sclerosis 1(B);Hereditary cancer-predisposing syndrome(US) 1/10/2018 -8.97 1.333333333 BLB 3 135364 Simple 374222196 A . CI 1 4 Hereditary cancer-predisposing syndrome(LB);not specified(LB);not specified(US);Tuberous sclerosis 1(B) 2/7/2018 -12.27 0.5 BLB 3 135416 Simple 149565907 T . CI 1 3 not specified(LB);Werner syndrome(B);Werner syndrome(US) 12/21/2017 -8.7 1.333333333 BLB 3 135423 Simple 34477820 G . CI 1 3 not specified(B);Werner syndrome(US);Werner syndrome(B) 1/3/2018 -11.1 1.333333333 BLB 3 135428 Simple 140768346 A . CI 1 3 Werner syndrome(B);not specified(LB);Werner syndrome(US) 1/10/2018 -9 1 BLB 3 135436 Simple 78488552 G . CI 1 3 not specified(B);Werner syndrome(B);Werner syndrome(US) 1/15/2018 -12.3 0.666666667 BLB 3 135452 Simple 4987238 T . CI 1 3 Werner syndrome(B);not specified(LB);Werner syndrome(US) 1/10/2018 -9 1 BLB 3 135690 Simple 192620988 T . CI 1 8 Familial adenomatous polyposis 1(US);Hereditary cancer-predisposing syndrome(LB);not specified(US);Familial multiple polyposis syndrome(US);APC-Associated Polyposis Disorders(LB);Familial adenomatous polyposis 1(US);not specified(US);not provided(LB) 12/29/2017 -10.14 1.25 BLB 3 135695 Simple 139196838 T . CI 1 10 "Familial adenomatous polyposis 1(B);Hereditary cancer-predisposing syndrome(LB);not specified(LB);Colorectal cancer, susceptibility to(US);Familial adenomatous polyposis 1(US);not specified(US);not specified(LB);not specified(US);Hereditary cancer-predisposing syndrome(LB);not provided(B)" 1/3/2018 -23.34 1.4 BLB 3 135706 Simple 148275069 A . CI 1 5 Familial adenomatous polyposis 1(US);Hereditary cancer-predisposing syndrome(LB);not specified(LB);not specified(US);not provided(LB) 1/8/2018 -9.6 0.4 BLB 3 135713 Simple 149328018 C . CI 1 7 Familial adenomatous polyposis 1(B);not specified(B);Hereditary cancer-predisposing syndrome(LB);APC-Associated Polyposis Disorders(US);not specified(LB);Hereditary cancer-predisposing syndrome(LB);not provided(B) 1/3/2018 -24.6 1.714285714 BLB 3 135732 Simple 35578748 C . CI 1 6 Ataxia-telangiectasia syndrome(B);not specified(B);Hereditary cancer-predisposing syndrome(LB);Ataxia-telangiectasia syndrome(US);Hereditary cancer-predisposing syndrome(LB);not provided(LB) 12/29/2017 -18.9 1.833333333 BLB 3 135742 Simple 56252953 C . CI 1 5 Ataxia-telangiectasia syndrome(B);not specified(B);Hereditary cancer-predisposing syndrome(LB);Ataxia-telangiectasia syndrome(US);Hereditary cancer-predisposing syndrome(B) 12/29/2017 -17.7 2.2 BLB 3 135754 Simple 4988008 T . CI 1 8 Ataxia-telangiectasia syndrome(B);not specified(B);Hereditary cancer-predisposing syndrome(LB);Ataxia-telangiectasia syndrome(US);Hereditary cancer-predisposing syndrome(B);not provided(B);not specified(B);Ataxia-telangiectasia syndrome(LB) 1/15/2018 -32.7 1.5 B 3 135759 Simple 587780626 - . CI 1 5 Ataxia-telangiectasia syndrome(LB);Hereditary cancer-predisposing syndrome(B);Ataxia-telangiectasia syndrome(US);not specified(LB);Hereditary cancer-predisposing syndrome(LB) 12/27/2017 -13.5 1.6 BLB 3 135774 Simple 3218699 T . CI 1 6 Ataxia-telangiectasia syndrome(LB);not specified(B);Hereditary cancer-predisposing syndrome(LB);Ataxia-telangiectasia syndrome(US);Hereditary cancer-predisposing syndrome(LB);not specified(LB) 12/30/2017 -15.3 2 BLB 3 135824 Simple 587780667 T . CI 1 3 Hereditary cutaneous melanoma(LB);Hereditary cancer-predisposing syndrome(US);not provided(B) 6/23/2017 -9.3 0.333333333 BLB 3 135839 Simple 576269342 A . CI 1 5 Hereditary nonpolyposis colon cancer(B);Hereditary cancer-predisposing syndrome(US);not specified(LB);Hereditary nonpolyposis colorectal cancer type 5(US);not provided(B) 1/4/2018 -14.97 0.8 BLB 3 135857 Simple 189025757 G . CI 1 4 Hereditary nonpolyposis colon cancer(LB);Lynch syndrome I(LB);not specified(LB);Hereditary cancer-predisposing syndrome(LB) 11/18/2017 -11.7 0.75 BLB 3 135862 Simple 34312619 A . CI 1 7 Hereditary nonpolyposis colon cancer(LB);Hereditary cancer-predisposing syndrome(LB);Lynch syndrome(US);not specified(B);not specified(LB);Hereditary cancer-predisposing syndrome(LB);not provided(US) 10/17/2017 -16.8 1.428571429 BLB 3 135878 Simple 1805156 A . CI 1 5 Holoprosencephaly sequence(US);Gorlin syndrome(US);not specified(B);Hereditary cancer-predisposing syndrome(LB);Gorlin syndrome(B) 12/30/2017 -14.1 1.4 BLB 3 135879 Simple 143305989 A . CI 1 5 Gorlin syndrome(LB);Holoprosencephaly sequence(US);Gorlin syndrome(US);Hereditary cancer-predisposing syndrome(LB);not specified(LB) 10/19/2017 -9.6 0.4 BLB 3 135883 Simple 145196322 A . CI 1 5 Gorlin syndrome(B);Gorlin syndrome(US);Holoprosencephaly sequence(US);not specified(LB);Hereditary cancer-predisposing syndrome(LB) 1/9/2018 -12.6 0.8 BLB 3 135941 Simple 369582237 G . CI 1 5 Hereditary nonpolyposis colon cancer(LB);Hereditary cancer-predisposing syndrome(LB);Lynch syndrome(US);not specified(LB);Hereditary cancer-predisposing syndrome(LB) 10/4/2017 -11.7 1.2 BLB 3 135943 Simple 116373169 A . CI 1 7 Hereditary nonpolyposis colon cancer(B);Hereditary cancer-predisposing syndrome(LB);not specified(LB);not specified(US);not specified(B);Hereditary cancer-predisposing syndrome(LB);not provided(LB) 1/9/2018 -23.67 1 BLB 3 135946 Simple 1805322 T . CI 1 6 Hereditary nonpolyposis colon cancer(B);Hereditary cancer-predisposing syndrome(B);not specified(LB);not specified(US);Hereditary cancer-predisposing syndrome(LB);not provided(B) 1/19/2018 -22.17 1.5 BLB 3 135951 Simple 63650860 G . CI 1 6 "Erythrocytosis, familial, 2(B);Von Hippel-Lindau syndrome(B);not specified(B);Hereditary cancer-predisposing syndrome(LB);not specified(US);Von Hippel-Lindau syndrome(LB);not specified(B)" 1/4/2018 -22.44 1.833333333 BLB 3 135981 Simple 587780742 A . CI 1 6 MYH-associated polyposis(LB);Hereditary cancer-predisposing syndrome(US);MYH-associated polyposis(US);MYH-associated polyposis(LB);not specified(B);not provided(US) 1/11/2018 -11.67 1.333333333 BLB 3 136053 Simple 186999445 C . CI 1 6 Juvenile polyposis syndrome(LB);Juvenile Polyposis(LB);Juvenile polyposis syndrome(US);not specified(LB);Hereditary cancer-predisposing syndrome(LB);not provided(B) 11/19/2017 -18.27 0.833333333 BLB 3 136061 Simple 587780786 T . CI 1 6 Hereditary diffuse gastric cancer(LB);Hereditary cancer-predisposing syndrome(LB);Hereditary diffuse gastric cancer(US);not specified(B);not specified(LB);Hereditary cancer-predisposing syndrome(LB) 10/18/2017 -16.5 1.5 BLB 3 136094 Simple 201992974 A . CI 1 3 "Multiple endocrine neoplasia, type 2b(LB);Multiple endocrine neoplasia, type 2a(LB);Hereditary cancer-predisposing syndrome(LB)" 2/6/2017 -8.4 1.666666667 BLB 3 136097 Simple 587780806 T . CI 1 4 "Multiple endocrine neoplasia, type 2(LB);Hereditary cancer-predisposing syndrome(US);Multiple endocrine neoplasia, type 2b(LB);Multiple endocrine neoplasia, type 2a(LB)" 3/3/2017 -9.24 1.5 BLB 3 136121 Simple 55810667 T . CI 1 7 "Multiple endocrine neoplasia, type 2(LB);Pheochromocytoma(US);Multiple endocrine neoplasia(US);Hirschsprung Disease, Dominant(US);Renal adysplasia(US);Hereditary cancer-predisposing syndrome(LB);not specified(LB)" 1/3/2018 -9.9 0.857142857 BLB 3 136123 Simple 576806329 T . CI 1 8 "Multiple endocrine neoplasia, type 2(B);Pheochromocytoma(US);Renal adysplasia(US);Multiple endocrine neoplasia(US);Hirschsprung Disease, Dominant(US);Multiple endocrine neoplasia, type 2b(LB);Multiple endocrine neoplasia, type 2a(LB);Hereditary cancer-predisposing syndrome(LB)" 12/15/2017 -15.3 1.25 BLB 3 136147 Simple 4988352 T . CI 1 8 "Familial cancer of breast(B);Fanconi anemia, complementation group J(B);not specified(B);Neoplasm of the breast(US);Fanconi anemia(US);Fanconi anemia, complementation group J(LB);Neoplasm of ovary(LB);not specified(LB);Hereditary cancer-predisposing syndrome(LB)" 1/23/2018 -22.2 1.5 BLB 3 136151 Simple 587780832 C . CI 1 6 "Familial cancer of breast(LB);Fanconi anemia, complementation group J(LB);Neoplasm of the breast(US);Fanconi anemia(US);Fanconi anemia, complementation group J(LB);Neoplasm of ovary(LB);not specified(LB)" 1/8/2018 -12.6 0.666666667 BLB 3 136156 Simple 201079501 G . CI 1 6 "Fanconi anemia, complementation group O(B);not specified(B);Fanconi anemia, complementation group O(US);Breast-ovarian cancer, familial 3(US);not specified(B);Hereditary cancer-predisposing syndrome(B)" 1/13/2018 -21.6 1.5 BLB 3 136209 Simple 121908823 T . CI 1 3 Hereditary cancer-predisposing syndrome(LB);Hereditary Paraganglioma-Pheochromocytoma Syndromes(B);not specified(LB) 12/28/2017 -12 0.333333333 BLB 3 136241 Simple 147884766 T . CI 1 6 "not specified(B);not specified(US);Stargardt Disease, Recessive(LB);Cone-Rod Dystrophy, Recessive(LB);Retinitis Pigmentosa, Recessive(LB);Macular degeneration(LB)" 6/14/2016 -15.27 2 BLB 3 136261 Simple 77763289 A . CI 1 3 not specified(B);Very long chain acyl-CoA dehydrogenase deficiency(US);Very long chain acyl-CoA dehydrogenase deficiency(B) 9/9/2017 -10.5 1.666666667 BLB 3 136294 Simple 11549709 A . CI 1 4 "not specified(B);Autosomal recessive cerebellar ataxia(US);Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type(US);Coenzyme Q10 deficiency, primary, 4(B)" 6/14/2016 -9.6 2.25 BLB 3 136309 Simple 199993991 A . CI 1 4 not specified(B);Adenylosuccinate lyase deficiency(US);not specified(US);Adenylosuccinate lyase deficiency(B) 11/22/2017 -10.8 1.5 BLB 3 136375 Simple 587780850 T . CI 1 4 not specified(B);not specified(US);not specified(LB);Pyridoxine-dependent epilepsy(LB) 12/18/2017 -10.47 1.75 BLB 3 136384 Simple 377608305 G . CI 1 4 not specified(B);Cardiovascular phenotype(LB);Long QT syndrome(US);Long QT syndrome(LB) 10/11/2017 -10.2 1.75 BLB 3 136404 Simple 79341122 C . CI 1 4 "not specified(B);Dilated Cardiomyopathy, Dominant(US);not provided(B);Total anomalous pulmonary venous return(B)" 8/2/2017 -15.9 1.75 BLB 3 136416 Simple 141493373 A . CI 1 4 "not specified(B);Coenzyme Q10 deficiency, Oculomotor Apraxia Type(US);Ataxia with Oculomotor Apraxia(US);not specified(LB)" 5/31/2017 -8.4 1.5 BLB 3 136424 Simple 33987824 A . CI 1 3 "not specified(B);not specified(B);Primary Microcephaly, Recessive(US)" 6/14/2016 -8.7 3 BLB 3 136513 Simple 28385028 T . CI 1 5 not specified(B);Bloom syndrome(B);not specified(B);Bloom syndrome(US);Hereditary cancer-predisposing syndrome(B) 1/11/2018 -22.5 1.4 BLB 3 136514 Simple 146013879 G . CI 1 5 not specified(B);Bloom syndrome(B);not specified(LB);Bloom syndrome(US);Hereditary cancer-predisposing syndrome(LB) 1/4/2018 -16.2 1.6 BLB 3 136518 Simple 138831180 G . CI 1 5 not specified(B);Bloom syndrome(B);not specified(US);not specified(LB);Hereditary cancer-predisposing syndrome(LB) 12/4/2017 -16.47 1.6 BLB 3 136519 Simple 56009845 T . CI 1 4 not specified(B);Bloom syndrome(B);Bloom syndrome(US);Hereditary cancer-predisposing syndrome(LB) 1/4/2018 -13.5 1.5 BLB 3 136520 Simple 183176301 G . CI 1 6 not specified(B);not specified(B);not specified(US);Bloom syndrome(B);Hereditary cancer-predisposing syndrome(LB);not provided(B) 1/12/2018 -25.47 1.333333333 BLB 3 136521 Simple 145310008 T . CI 1 3 not specified(B);Bloom syndrome(B);Bloom syndrome(US) 1/5/2018 -10.5 1.666666667 BLB 3 136539 Simple 80358144 C . CI 1 4 not specified(B);Hereditary breast and ovarian cancer syndrome(B);Hereditary cancer-predisposing syndrome(B);not provided(B) 6/7/2017 -21.6 1.75 BLB 3 136575 Simple 61754141 G . CI 1 12 "not specified(B);Hereditary cancer-predisposing syndrome(LB);Familial cancer of breast(B);Fanconi anemia, complementation group J(B);Neoplasm of the breast(US);Fanconi anemia(US);Fanconi anemia, complementation group J(LB);Neoplasm of ovary(LB);not specified(LB);not specified(LB);Hereditary cancer-predisposing syndrome(LB);Hereditary cancer-predisposing syndrome(LB);not provided(B)" 12/28/2017 -36 1.5 B 3 136580 Simple 4987050 G . CI 1 10 "not specified(B);Hereditary cancer-predisposing syndrome(LB);Familial cancer of breast(B);Fanconi anemia, complementation group J(B);Fanconi anemia(US);Neoplasm of the breast(US);Fanconi anemia, complementation group J(LB);Neoplasm of ovary(LB);Hereditary cancer-predisposing syndrome(LB);not specified(LB);not specified(LB)" 1/1/2018 -27.6 1.6 B 3 136582 Simple 45566938 A . CI 1 9 "not specified(B);Hereditary cancer-predisposing syndrome(LB);Familial cancer of breast(B);Fanconi anemia, complementation group J(B);Fanconi anemia(US);Neoplasm of the breast(US);Fanconi anemia, complementation group J(LB);Neoplasm of ovary(LB);Hereditary cancer-predisposing syndrome(LB);not provided(B)" 12/27/2017 -27.9 1.555555556 B 3 136632 Simple 199538058 A . CI 1 6 not specified(B);not specified(US);Long QT syndrome(B);Cardiovascular phenotype(LB);Timothy syndrome(LB);Brugada syndrome(LB) 12/21/2017 -19.74 1.666666667 BLB 3 136641 Simple 371831239 C . CI 1 4 not specified(B);not specified(US);Cardiovascular phenotype(LB);Long QT syndrome(LB) 7/20/2017 -10.47 1.75 BLB 3 136647 Simple 150280879 C . CI 1 5 not specified(B);Cardiovascular phenotype(LB);Brugada syndrome(US);Brugada syndrome 4(B);Brugada syndrome 4(B) 11/20/2017 -18.9 1.8 BLB 3 136659 Simple 201593267 A . CI 1 5 not specified(B);not specified(LB);Cardiovascular phenotype(LB);not specified(US);Long QT syndrome(LB) 1/11/2018 -11.07 3 BLB 3 136668 Simple 2298758 A . CI 1 4 not specified(B);Cardiovascular phenotype(B);Homocystinuria(US);Homocystinuria due to CBS deficiency(B) 6/7/2017 -15.9 1.75 BLB 3 136672 Simple 76292057 T . CI 1 4 not specified(B);not specified(B);Homocystinuria(US);Homocystinuria due to CBS deficiency(B) 10/12/2017 -15.3 2 BLB 3 136727 Simple 142742071 G . CI 1 7 Renal dysplasia and retinal aplasia(US);Leber congenital amaurosis(US);Joubert syndrome(US);Bardet-Biedl syndrome(US);Meckel-Gruber syndrome(US);Joubert syndrome(B);Meckel-Gruber syndrome(B);Nephronophthisis(B);not specified(B) 12/18/2017 -11.7 1.285714286 BLB 3 136729 Simple 150138016 T . CI 1 7 Leber congenital amaurosis(US);Bardet-Biedl syndrome(US);Meckel-Gruber syndrome(US);Renal dysplasia and retinal aplasia(US);Joubert syndrome(US);Joubert syndrome(B);Meckel-Gruber syndrome(B);Nephronophthisis(B);not specified(B) 12/18/2017 -11.7 1.285714286 BLB 3 136730 Simple 79644671 C . CI 1 7 Joubert syndrome(US);Meckel-Gruber syndrome(US);Bardet-Biedl syndrome(US);Renal dysplasia and retinal aplasia(US);Leber congenital amaurosis(US);Joubert syndrome(B);Meckel-Gruber syndrome(B);Nephronophthisis(B);not specified(B) 12/18/2017 -11.7 1.285714286 BLB 3 136758 Simple 56142348 G . CI 1 4 not specified(B);not specified(US);not specified(B);Autosomal dominant nocturnal frontal lobe epilepsy(B) 7/3/2017 -16.44 2 BLB 3 136759 Simple 55915440 A . CI 1 5 not specified(B);not provided(US);not specified(B);not provided(LB);Autosomal dominant nocturnal frontal lobe epilepsy(B) 12/27/2017 -17.01 2.8 BLB 3 136765 Simple 201123897 T . CI 1 3 not specified(B);not specified(US);Autosomal dominant nocturnal frontal lobe epilepsy(B) 1/4/2018 -10.44 2.333333333 BLB 3 136773 Simple 8192486 G . CI 1 3 not specified(B);not specified(US);Autosomal dominant nocturnal frontal lobe epilepsy(B) 1/2/2018 -10.5 1.666666667 BLB 3 136774 Simple 144813907 T . CI 1 3 not specified(B);not specified(US);Autosomal dominant nocturnal frontal lobe epilepsy(B) 10/30/2017 -10.41 2.666666667 BLB 3 136797 Simple 146135801 T . CI 1 4 "not specified(B);not specified(LB);Neuronal Ceroid-Lipofuscinosis, Recessive(US);Neuronal ceroid lipofuscinosis(B)" 11/28/2017 -12.6 2 BLB 3 136817 Simple 74354654 T . CI 1 5 not specified(B);Cortical dysplasia-focal epilepsy syndrome(US);Pitt-Hopkins-like syndrome(US);Cortical dysplasia-focal epilepsy syndrome(B);not specified(LB) 11/5/2017 -13.8 1.4 BLB 3 136818 Simple 149185385 C . CI 1 6 Cortical dysplasia-focal epilepsy syndrome(US);Pitt-Hopkins-like syndrome(US);not specified(LB);Cortical dysplasia-focal epilepsy syndrome(LB);not specified(B);not specified(US) 10/13/2017 -10.41 2 BLB 3 136819 Simple 138481453 C . CI 1 5 not specified(B);not specified(LB);not specified(US);not specified(US);Cortical dysplasia-focal epilepsy syndrome(LB) 11/27/2017 -10.8 1.4 BLB 3 136831 Simple 142331907 A . CI 1 3 not specified(B);not specified(US);Cortical dysplasia-focal epilepsy syndrome(B) 12/8/2017 -9.84 2.666666667 BLB 3 136832 Simple 201219937 T . CI 1 3 not specified(B);not specified(US);Cortical dysplasia-focal epilepsy syndrome(B) 12/14/2017 -10.44 2.333333333 BLB 3 136839 Simple 201200400 C . CI 1 4 not specified(B);Pitt-Hopkins-like syndrome(US);Cortical dysplasia-focal epilepsy syndrome(US);Cortical dysplasia-focal epilepsy syndrome(LB) 1/2/2018 -8.4 1.25 BLB 3 136854 Simple 111567071 C . CI 1 4 "not specified(B);Ehlers-Danlos syndrome, type 4(US);Ehlers-Danlos syndrome, type 4(LB);Cardiovascular phenotype(LB)" 3/13/2017 -11.1 1.5 BLB 3 136880 Simple 370349155 T . CI 1 4 "not specified(B);Cardiovascular phenotype(LB);Ehlers-Danlos syndrome, type 7A(US);Ehlers-Danlos syndrome, classic type(LB)" 10/22/2017 -9.3 2.25 BLB 3 136958 Simple 142544320 G . CI 1 4 "not specified(B);Ehlers-Danlos syndrome, classic type(LB);Ehlers-Danlos syndrome, type 7A(US);Cardiovascular phenotype(LB)" 11/9/2017 -10.5 1.5 BLB 3 136989 Simple 61730662 C . CI 1 3 "not specified(B);not provided(B);Coenzyme Q10 deficiency, primary(US)" 6/14/2016 -9.3 2.666666667 BLB 3 137037 Simple 6383 G . CI 1 4 not specified(B);not specified(LB);Unverricht-Lundborg syndrome(US);Progressive myoclonic epilepsy(B) 1/5/2018 -12.9 2 BLB 3 137040 Simple 140238987 T . CI 1 4 "not specified(B);not specified(US);Neuronal ceroid lipofuscinosis(B);Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive(US)" 12/28/2017 -10.2 1.75 BLB 3 137055 Simple 141523461 A . CI 1 3 "not specified(B);Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive(US);Ceroid lipofuscinosis neuronal 10(B)" 5/9/2017 -8.7 3 BLB 3 137060 Simple 146073498 C . CI 1 4 "not specified(B);Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive(US);Neuronal ceroid lipofuscinosis(B);Ceroid lipofuscinosis neuronal 10(LB)" 10/12/2017 -13.5 1.25 BLB 3 137073 Simple 41298896 C . CI 1 3 not specified(B);Histiocytic medullary reticulosis(LB);Severe combined immunodeficiency with sensitivity to ionizing radiation(B) 1/2/2018 -13.2 1.666666667 BLB 3 137082 Simple 74874677 G . CI 1 3 not specified(B);not specified(B);not specified(B) 8/18/2016 -13.8 3.333333333 BLB 3 137086 Simple 61757217 C . CI 1 3 not specified(B);Pyruvate dehydrogenase complex deficiency(US);Pyruvate dehydrogenase E2 deficiency(B) 12/8/2017 -9.9 2 BLB 3 137092 Simple 2228664 C . CI 1 5 "not specified(B);Pyruvate dehydrogenase complex deficiency(US);Maple syrup urine disease(US);Leigh syndrome(US);Maple syrup urine disease, type 3(B)" 9/28/2017 -10.5 1.6 BLB 3 137095 Simple 61749952 T . CI 1 6 "not specified(B);not specified(B);Leigh syndrome(US);Maple syrup urine disease(US);Pyruvate dehydrogenase complex deficiency(US);Maple syrup urine disease, type 3(B)" 11/21/2017 -14.7 2 BLB 3 137120 Simple 142023670 T . CI 1 3 not specified(B);3-methylglutaconic aciduria type V(US);3-methylglutaconic aciduria type V(B) 11/16/2017 -10.5 1.666666667 BLB 3 137150 Simple 34098809 A . CI 1 3 "not specified(B);Hyper-IgE syndrome(US);Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive(B)" 12/29/2017 -10.5 1.666666667 BLB 3 137158 Simple 140167653 A . CI 1 5 "not specified(B);not specified(B);Arrhythmogenic right ventricular cardiomyopathy, type 11(B);Cardiomyopathy, ARVC(US);Cardiovascular phenotype(B)" 1/22/2018 -21.9 1.4 BLB 3 137166 Simple 368809971 A . CI 1 7 "not specified(B);not specified(LB);not specified(US);Cardiovascular phenotype(LB);Dilated Cardiomyopathy, Dominant(LB);Cardiomyopathy, ARVC(LB);Arrhythmogenic right ventricular cardiomyopathy, type 10(LB)" 1/9/2018 -17.94 2.285714286 BLB 3 137168 Simple 150422458 A . CI 1 10 "not specified(B);not specified(B);not specified(US);Dilated cardiomyopathy with woolly hair and keratoderma(B);Arrhythmogenic right ventricular cardiomyopathy, type 8(B);Cardiovascular phenotype(LB);Epidermolysis bullosa, lethal acantholytic(LB);Ectodermal dysplasia skin fragility syndrome(LB);Cardiomyopathy, ARVC(LB);Skin fragility woolly hair syndrome(LB);not provided(B)" 1/8/2018 -34.08 2.2 B 3 137192 Simple 115205076 A . CI 1 3 not specified(B);Juvenile myoclonic epilepsy(US);Epilepsy juvenile absence(B);Juvenile myoclonic epilepsy(B) 12/20/2017 -10.5 1.666666667 BLB 3 137193 Simple 201860746 C . CI 1 4 not specified(B);Juvenile myoclonic epilepsy(US);Epilepsy juvenile absence(B);Juvenile myoclonic epilepsy(B);not specified(B) 7/31/2017 -16.5 1.5 BLB 3 137214 Simple 114241106 A . CI 1 3 not specified(B);Hereditary cancer-predisposing syndrome(B);Lynch syndrome(US) 6/14/2016 -9.9 2.333333333 BLB 3 137276 Simple 141828876 A . CI 1 4 not specified(B);Fanconi anemia(LB);Fanconi anemia(US);Hereditary cancer-predisposing syndrome(LB) 11/6/2017 -10.5 1.5 BLB 3 137277 Simple 55719336 A . CI 1 6 not specified(B);Fanconi anemia(B);Fanconi anemia(US);not specified(LB);Hereditary cancer-predisposing syndrome(LB);not provided(B) 1/4/2018 -21.6 1.666666667 BLB 3 137310 Simple 144822241 A . CI 1 4 not specified(B);not specified(LB);not specified(LB);Marfan syndrome(US);Thoracic aortic aneurysm and aortic dissection(US) 11/17/2017 -9.3 2.5 BLB 3 137319 Simple 139686090 T . CI 1 6 not specified(B);not specified(US);Congenital contractural arachnodactyly(B);Cardiovascular phenotype(LB);Congenital contractural arachnodactyly(LB);Congenital contractural arachnodactyly(LB) 11/30/2017 -19.2 1.333333333 BLB 3 137320 Simple 372872626 T . CI 1 4 not specified(B);Cardiovascular phenotype(LB);Congenital contractural arachnodactyly(US);Congenital contractural arachnodactyly(LB) 12/24/2017 -9.9 2 BLB 3 137337 Simple 113589974 A . CI 1 3 not specified(B);Congenital contractural arachnodactyly(US);Congenital contractural arachnodactyly(B) 12/21/2017 -10.5 1.666666667 BLB 3 137341 Simple 35346129 A . CI 1 7 not specified(B);not specified(B);not specified(US);not specified(B);Congenital contractural arachnodactyly(B);Cardiovascular phenotype(LB);Congenital contractural arachnodactyly(LB) 1/2/2018 -23.64 2.857142857 BLB 3 137349 Simple 147102633 A . CI 1 6 not specified(B);Cardiovascular phenotype(LB);not specified(US);Congenital contractural arachnodactyly(LB);Congenital contractural arachnodactyly(B);Congenital contractural arachnodactyly(B) 11/24/2017 -21.9 1.333333333 BLB 3 137363 Simple 201591116 A . CI 1 3 not specified(B);Fructose-biphosphatase deficiency(US);Fructose-biphosphatase deficiency(B) 9/21/2017 -10.5 1.666666667 BLB 3 137380 Simple 140679502 A . CI 1 5 not specified(LB);not specified(US);not specified(LB);Walker-Warburg congenital muscular dystrophy(LB);not specified(LB) 2/27/2018 -11.94 1.2 BLB 3 137389 Simple 112803404 T . CI 1 5 "not specified(LB);not specified(B);not specified(LB);Rett syndrome, congenital variant(B);Rett syndrome, congenital variant(LB)" 8/25/2017 -20.7 0.4 BLB 3 137410 Simple 200750234 A . CI 1 3 "not specified(B);not specified(US);Idiopathic generalized epilepsy(B);Epilepsy, juvenile myoclonic 5(B);Epilepsy, childhood absence 4(B)" 12/26/2017 -10.47 2 BLB 3 137412 Simple 551045474 T . CI 1 3 "not specified(B);Juvenile myoclonic epilepsy(US);Idiopathic generalized epilepsy(B);Epilepsy, juvenile myoclonic 5(B);Epilepsy, childhood absence 4(B)" 12/27/2017 -10.5 1.666666667 BLB 3 137414 Simple 41308303 A . CI 1 3 "not specified(B);not specified(US);Idiopathic generalized epilepsy(B);Epilepsy, juvenile myoclonic 5(B);Epilepsy, childhood absence 4(B)" 12/26/2017 -10.47 2 BLB 3 137416 Simple 142385746 G . CI 1 3 "not specified(B);Juvenile myoclonic epilepsy(US);Idiopathic generalized epilepsy(B);Epilepsy, juvenile myoclonic 5(B);Epilepsy, childhood absence 4(B)" 10/19/2017 -10.5 1.666666667 BLB 3 137436 Simple 192416474 A . CI 1 4 not specified(B);Deficiency of guanidinoacetate methyltransferase(US);not specified(B);Cerebral creatine deficiency syndrome(B) 10/18/2017 -16.5 1.5 BLB 3 137461 Simple 142919829 G . CI 1 3 not specified(B);Combined oxidative phosphorylation deficiency(US);not specified(B) 6/14/2016 -9.9 2.333333333 BLB 3 137528 Simple 117639846 G . CI 1 3 not specified(B);Hypoglycemia with deficiency of glycogen synthetase in the liver(US);Hypoglycemia with deficiency of glycogen synthetase in the liver(B) 7/14/2017 -9.3 2.333333333 BLB 3 137568 Simple 118015540 A . CI 1 5 "not specified(B);not specified(B);Spinal muscular atrophy(US);Spinal muscular atrophy, distal, autosomal recessive, 1(B);Charcot-Marie-Tooth disease, axonal, type 2S(B);Spinal muscular atrophy, distal, autosomal recessive, 1(B)" 1/4/2018 -22.5 1.2 BLB 3 137569 Simple 17853166 C . CI 1 4 not specified(B);Familial dysautonomia(US);Familial dysautonomia(B);Familial dysautonomia(B) 8/7/2017 -15.3 2 BLB 3 137571 Simple 1140064 T . CI 1 4 not specified(B);Familial dysautonomia(US);Familial dysautonomia(B);Familial dysautonomia(B) 8/7/2017 -15.3 2 BLB 3 137572 Simple 112114410 A . CI 1 3 not specified(B);Familial dysautonomia(US);Familial dysautonomia(B) 6/14/2016 -9.3 2.666666667 BLB 3 137573 Simple 41278359 T . CI 1 4 not specified(B);not specified(B);Familial dysautonomia(US);Familial dysautonomia(B) 1/11/2018 -15.9 1.75 BLB 3 137581 Simple 2230786 A . CI 1 3 not specified(B);Familial dysautonomia(US);Familial dysautonomia(B) 8/7/2017 -10.5 1.666666667 BLB 3 137677 Simple 113669789 T . CI 1 3 "not specified(B);Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type(US);Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2(B)" 11/27/2017 -9.9 2 BLB 3 137708 Simple 144586525 G . CI 1 3 not specified(B);not specified(B);Liver failure acute infantile(US) 6/14/2016 -9.3 2.666666667 BLB 3 137731 Simple 35958226 T . CI 1 6 not specified(B);Hereditary cancer-predisposing syndrome(LB);Tuberous sclerosis 1(B);Tuberous sclerosis syndrome(LB);Focal cortical dysplasia type II(LB);not specified(LB) 1/24/2018 -21 1.833333333 BLB 3 137766 Simple 77955179 G . CI 1 3 not specified(B);not specified(B);Mitochondrial complex III deficiency(US) 6/14/2016 -9.3 2.666666667 BLB 3 137798 Simple 116592778 G . CI 1 11 "not specified(B);not specified(B);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Distal myopathy Markesbery-Griggs type(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Dilated Cardiomyopathy, Dominant(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Hypertrophic cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);Cardiovascular phenotype(B)" 12/11/2017 -24.6 2 BLB 3 137799 Simple 142095604 T . CI 1 11 "not specified(B);not specified(LB);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);Cardiovascular phenotype(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Hypertrophic cardiomyopathy(US);Distal myopathy Markesbery-Griggs type(US);Dilated Cardiomyopathy, Dominant(US);Hereditary myopathy with early respiratory failure(US);Myopathy, early-onset, with fatal cardiomyopathy(US);not specified(US)" 12/5/2017 -12.21 1.545454545 BLB 3 137812 Simple 202185465 G . CI 1 10 "not specified(B);not specified(LB);not specified(LB);Distal myopathy Markesbery-Griggs type(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Hereditary myopathy with early respiratory failure(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Hypertrophic cardiomyopathy(US);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B)" 1/5/2018 -17.4 1.4 BLB 3 137821 Simple 371480338 A . CI 1 11 "not specified(LB);Distal myopathy Markesbery-Griggs type(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Hereditary myopathy with early respiratory failure(US);Dilated Cardiomyopathy, Dominant(US);Hypertrophic cardiomyopathy(US);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);Cardiovascular phenotype(LB);not specified(B);not specified(LB)" 12/15/2017 -16.2 1.636363636 BLB 3 137831 Simple 187703540 T . CI 1 4 "not specified(B);not provided(US);Cardiovascular phenotype(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B)" 12/28/2017 -16.41 2 BLB 3 137839 Simple 145204073 C . CI 1 10 "not specified(B);not specified(LB);Dilated Cardiomyopathy, Dominant(US);Hypertrophic cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);Distal myopathy Markesbery-Griggs type(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(LB)" 12/28/2017 -17.1 1.5 BLB 3 137841 Simple 201155967 T . CI 1 10 "not specified(B);not specified(LB);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(LB);Distal myopathy Markesbery-Griggs type(US);Dilated Cardiomyopathy, Dominant(US);Hypertrophic cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Hereditary myopathy with early respiratory failure(US);Myopathy, early-onset, with fatal cardiomyopathy(US)" 1/5/2018 -17.7 1.3 BLB 3 137844 Simple 375022009 A . CI 1 4 "not specified(B);not specified(LB);not specified(US);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB)" 12/28/2017 -9.57 2.5 BLB 3 137882 Simple 143484751 A . CI 1 2 not specified(LB);Angelman syndrome(B) 11/6/2017 -9 0 BLB 3 137885 Simple 150331504 C . CI 1 4 not specified(B);not specified(B);not specified(B);Angelman syndrome(B) 11/13/2017 -22.8 1.25 BLB 3 137886 Simple 139082033 A . CI 1 5 not specified(LB);not specified(B);Angelman syndrome(B);not specified(B);not specified(B) 12/27/2017 -26.7 1 B 3 137902 Simple 576271894 T . CI 1 5 "not specified(B);not specified(LB);Dilated Cardiomyopathy, Dominant(US);Dilated cardiomyopathy 1W(B);Cardiovascular phenotype(LB)" 12/5/2017 -15.9 1.8 BLB 3 137908 Simple 61744321 T . CI 1 3 not specified(B);not specified(B);Primary Microcephaly 2 With or Without Cortical Malformations(US) 6/14/2016 -8.7 3 BLB 3 137913 Simple 35031397 G . CI 1 6 not specified(B);not specified(B);not specified(LB);WFS1-Related Spectrum Disorders(LB);Monogenic diabetes(US);not specified(B) 3/9/2017 -20.97 2.166666667 BLB 3 137918 Simple 61735401 T . CI 1 4 not specified(B);not specified(B);not specified(B);not specified(LB) 1/17/2017 -18 2.25 BLB 3 138009 Simple 532941548 C . CI 1 9 not specified(B);not specified(US);Cardiovascular phenotype(LB);not specified(US);Long QT syndrome(LB);Familial atrial fibrillation(LB);Romano-Ward syndrome(LB);short QT syndrome(LB);Jervell and Lange-Nielsen syndrome(LB) 5/5/2017 -21.57 1.666666667 BLB 3 138026 Simple 35450031 A . CI 1 5 not specified(B);Early infantile epileptic encephalopathy(B);KCNQ2-Related Disorders(LB);not specified(B);not provided(LB) 12/18/2017 -21.6 1.4 BLB 3 138028 Simple 369438374 A . CI 1 4 not specified(B);not specified(US);KCNQ2-Related Disorders(LB);Early infantile epileptic encephalopathy(LB) 12/21/2017 -9.87 2 BLB 3 138057 Simple 145238250 A . CI 1 4 "not specified(B);Progressive myoclonic epilepsy(US);not specified(LB);Epilepsy, progressive myoclonic 3(B)" 1/5/2018 -13.5 1.25 BLB 3 138112 Simple 151104648 G . CI 1 3 "not specified(B);Epilepsy, lateral temporal lobe, autosomal dominant(US);Epilepsy, lateral temporal lobe, autosomal dominant(B)" 1/12/2018 -10.5 1.666666667 BLB 3 138128 Simple 17886056 A . CI 1 3 not specified(B);Majeed syndrome(US);Majeed syndrome(B) 11/18/2017 -9.9 2 BLB 3 138174 Simple 146020786 T . CI 1 5 "not specified(B);not specified(B);Intellectual Disability, Dominant(US);Mental retardation, autosomal dominant 1(B);not specified(LB)" 1/3/2018 -18.6 1.8 BLB 3 138188 Simple 61748381 A . CI 1 6 not specified(B);not specified(B);not specified(B);not provided(B);Severe neonatal-onset encephalopathy with microcephaly(B);Rett syndrome(LB) 12/18/2017 -28.2 2 B 3 138190 Simple 61750251 A . CI 1 2 "not specified(B);Angelman syndrome(B);Mental retardation, X-linked, syndromic 13(B);Rett syndrome(B)" 10/24/2016 -9.6 3 BLB 3 138216 Simple 140924661 T . CI 1 3 "not specified(B);Charcot-Marie-Tooth disease, type 2(B);not specified(US)" 12/15/2017 -10.47 2 BLB 3 138221 Simple 112721309 G . CI 1 3 "not specified(B);Neuronal Ceroid-Lipofuscinosis, Recessive(US);Ceroid lipofuscinosis neuronal 7(B)" 12/7/2017 -9.9 2 BLB 3 138225 Simple 145453022 C . CI 1 3 "not specified(B);Neuronal Ceroid-Lipofuscinosis, Recessive(US);Ceroid lipofuscinosis neuronal 7(B)" 6/30/2017 -9.9 2 BLB 3 138227 Simple 75039907 A . CI 1 4 "not specified(B);Neuronal Ceroid-Lipofuscinosis, Recessive(US);Ceroid lipofuscinosis neuronal 7(B);Ceroid lipofuscinosis neuronal 7(B)" 1/3/2018 -14.7 2.25 BLB 3 138254 Simple 63750820 G . CI 1 6 not specified(B);Hereditary cancer-predisposing syndrome(LB);Hereditary nonpolyposis colon cancer(B);Lynch syndrome(US);Hereditary cancer-predisposing syndrome(LB);not provided(US) 1/9/2018 -15.9 1.833333333 BLB 3 138255 Simple 533553381 T . CI 1 9 not specified(B);Hereditary cancer-predisposing syndrome(LB);Lynch syndrome(US);Lynch syndrome I(LB);Hereditary nonpolyposis colon cancer(B);not specified(B);not specified(B);Hereditary cancer-predisposing syndrome(B);not provided(B) 1/8/2018 -37.8 1.888888889 B 3 138258 Simple 146785465 G . CI 1 9 not specified(B);Hereditary cancer-predisposing syndrome(LB);Hereditary nonpolyposis colon cancer(B);Lynch syndrome(US);not specified(LB);not specified(B);Hereditary cancer-predisposing syndrome(LB);not provided(B);not specified(LB) 12/20/2017 -32.7 1.777777778 B 3 138282 Simple 142113735 A . CI 1 3 "not specified(B);Disorders of Intracellular Cobalamin Metabolism(US);METHYLCOBALAMIN DEFICIENCY, cblG TYPE(B)" 1/2/2018 -10.5 1.666666667 BLB 3 138289 Simple 1805087 G . CI 1 2 not specified(B);Disorders of Intracellular Cobalamin Metabolism(B) 6/14/2016 -10.2 2.5 BLB 3 138291 Simple 162036 G . CI 1 2 not specified(B);Disorders of Intracellular Cobalamin Metabolism(B) 6/14/2016 -9.6 3 BLB 3 138299 Simple 6874544 C . CI 1 3 "not specified(B);Disorders of Intracellular Cobalamin Metabolism(US);Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type(B)" 7/24/2017 -10.5 1.666666667 BLB 3 138300 Simple 10380 T . CI 1 2 not specified(B);Disorders of Intracellular Cobalamin Metabolism(B) 6/14/2016 -9.6 3 BLB 3 138304 Simple 1532268 T . CI 1 2 not specified(B);Disorders of Intracellular Cobalamin Metabolism(B) 6/14/2016 -10.2 2.5 BLB 3 138309 Simple 139977567 T . CI 1 3 not specified(B);MYH-associated polyposis(US);Hereditary cancer-predisposing syndrome(B) 6/14/2016 -9.9 2.333333333 BLB 3 138310 Simple 2275602 A . CI 1 3 not specified(B);not specified(US);Hereditary cancer-predisposing syndrome(B) 5/3/2016 -9.81 3.333333333 BLB 3 138311 Simple 201678305 C . CI 1 8 not specified(B);Hereditary cancer-predisposing syndrome(B);MYH-associated polyposis(B);MYH-associated polyposis(US);Hereditary cancer-predisposing syndrome(LB);not specified(LB);not specified(LB);Hereditary cancer-predisposing syndrome(B) 1/25/2018 -29.7 1.5 B 3 138313 Simple 140397628 A . CI 1 4 "not specified(B);Mevalonic aciduria(US);Hyperimmunoglobulin D with periodic fever(US);Mevalonic aciduria(B);Porokeratosis, disseminated superficial actinic 1(B);Hyperimmunoglobulin D with periodic fever(B)" 10/16/2017 -9.6 2 BLB 3 138332 Simple 137988790 A . CI 1 4 "not specified(B);Thoracic aortic aneurysm and aortic dissection(US);Aortic aneurysm, familial thoracic 4(B);Cardiovascular phenotype(LB)" 8/18/2017 -13.2 1.75 BLB 3 138335 Simple 113154524 T . CI 1 7 "Cardiovascular phenotype(LB);Thoracic aortic aneurysm and aortic dissection(US);not specified(B);Aortic aneurysm, familial thoracic 4(LB);Aortic aneurysm, familial thoracic 4(LB);not specified(B);Aortic aneurysm, familial thoracic 4(B)" 1/3/2018 -24.3 1.571428571 BLB 3 138346 Simple 143288748 C . CI 1 6 "not specified(B);Aortic aneurysm, familial thoracic 4(US);Aortic aneurysm, familial thoracic 4(LB);Cardiovascular phenotype(LB);Aortic aneurysm, familial thoracic 4(LB);Aortic aneurysm, familial thoracic 4(LB)" 11/16/2017 -15.24 2 BLB 3 138357 Simple 142639688 A . CI 1 7 "not specified(B);Cardiovascular phenotype(LB);Thoracic aortic aneurysm and aortic dissection(US);Lissencephaly, Recessive(US);Aortic aneurysm, familial thoracic 4(B);not specified(B);Aortic aneurysm, familial thoracic 4(LB)" 1/23/2018 -22.2 1.428571429 BLB 3 138360 Simple 138168272 A . CI 1 4 "not specified(B);Cardiovascular phenotype(B);Lissencephaly, Recessive(US);Aortic aneurysm, familial thoracic 4(B)" 12/30/2017 -15.9 1.75 BLB 3 138364 Simple 113363750 A . CI 1 8 "not specified(B);Cardiovascular phenotype(LB);Thoracic aortic aneurysm and aortic dissection(US);Aortic aneurysm, familial thoracic 4(B);not specified(B);not provided(B);Aortic aneurysm, familial thoracic 4(LB);Aortic aneurysm, familial thoracic 4(LB)" 12/26/2017 -30.6 1.25 B 3 138370 Simple 201198815 G . CI 1 4 "not specified(B);Cardiovascular phenotype(LB);Thoracic aortic aneurysm and aortic dissection(US);Aortic aneurysm, familial thoracic 4(LB)" 10/18/2017 -9.9 2 BLB 3 138372 Simple 61734198 T . CI 1 4 "not specified(B);Cardiovascular phenotype(B);Thoracic aortic aneurysm and aortic dissection(US);Aortic aneurysm, familial thoracic 4(B)" 1/2/2018 -15.9 1.75 BLB 3 138378 Simple 45587932 G . CI 1 9 "not specified(B);not specified(US);Left ventricular noncompaction cardiomyopathy(LB);Hypertrophic cardiomyopathy(LB);Scapuloperoneal myopathy(LB);Dilated Cardiomyopathy, Dominant(LB);Myosin storage myopathy(LB);Myopathy, distal, 1(LB);Hypertrophic cardiomyopathy(LB)" 12/4/2017 -25.41 1.555555556 BLB 3 138388 Simple 369490861 T . CI 1 9 "not specified(B);Dilated Cardiomyopathy, Dominant(US);Scapuloperoneal myopathy(US);Hypertrophic cardiomyopathy(US);Myosin storage myopathy(US);Left ventricular noncompaction cardiomyopathy(US);Myopathy, distal, 1(US);Cardiovascular phenotype(LB);Hypertrophic cardiomyopathy(LB)" 9/25/2017 -11.4 1.333333333 BLB 3 138392 Simple 150885220 A . CI 1 4 not specified(B);not specified(US);Cardiovascular phenotype(LB);Hypertrophic cardiomyopathy(LB) 1/4/2018 -8.91 3.25 BLB 3 138428 Simple 577706448 T . CI 1 4 "not specified(B);not specified(US);Microcephaly, normal intelligence and immunodeficiency(B);Hereditary cancer-predisposing syndrome(LB)" 12/27/2017 -12.84 2.5 BLB 3 138454 Simple 35227875 T . CI 1 3 not specified(B);Mitochondrial complex I deficiency(US);not specified(B) 6/14/2016 -9.3 2.666666667 BLB 3 138493 Simple 145747389 T . CI 1 3 not specified(B);Mitochondrial complex I deficiency(US);not specified(B) 11/7/2016 -9.3 2.666666667 BLB 3 138511 Simple 35366555 C . CI 1 6 "not specified(B);not specified(B);Dilated cardiomyopathy 1CC(B);Familial hypertrophic cardiomyopathy 20(B);Cardiovascular phenotype(B);Hypertrophic cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US)" 12/19/2017 -20.4 2 BLB 3 138522 Simple 187783545 A . CI 1 4 not specified(B);not specified(B);Lafora disease(US);Lafora disease(B) 12/13/2017 -14.7 2.25 BLB 3 138525 Simple 77612903 A . CI 1 5 not specified(B);not specified(US);Atrial septal defect 7 with or without atrioventricular conduction defects(B);not specified(B);Cardiovascular phenotype(B) 1/1/2018 -21.78 2.4 BLB 3 138545 Simple 143495349 A . CI 1 4 not specified(B);Pitt-Hopkins-like syndrome(US);Pitt-Hopkins-like syndrome 2(B);not specified(US) 10/11/2017 -10.17 2 BLB 3 138546 Simple 112536447 G . CI 1 4 not specified(B);Pitt-Hopkins-like syndrome(US);not specified(LB);Pitt-Hopkins-like syndrome 2(LB) 10/25/2017 -10.5 1.5 BLB 3 138547 Simple 113380721 T . CI 1 5 not specified(B);not specified(LB);not specified(US);Pitt-Hopkins-like syndrome(US);Pitt-Hopkins-like syndrome 2(B) 12/18/2017 -12.87 2 BLB 3 138549 Simple 201727684 G . CI 1 5 not specified(B);not specified(US);Pitt-Hopkins-like syndrome(US);Pitt-Hopkins-like syndrome 2(LB);not specified(LB) 7/12/2017 -10.2 1.6 BLB 3 138550 Simple 201941844 C . CI 1 3 not specified(B);not specified(US);Pitt-Hopkins-like syndrome 2(B) 11/9/2017 -9.84 2.666666667 BLB 3 138553 Simple 201592993 A . CI 1 5 not specified(B);not specified(LB);Pitt-Hopkins-like syndrome(US);Pitt-Hopkins-like syndrome 2(B);not specified(LB) 5/17/2017 -15.6 2 BLB 3 138557 Simple 200248561 C . CI 1 5 not specified(B);not specified(LB);Pitt-Hopkins-like syndrome(US);not specified(LB);Pitt-Hopkins-like syndrome 2(B) 11/27/2017 -15.6 1.8 BLB 3 138601 Simple 193148631 A . CI 1 4 not specified(B);not specified(US);not specified(B);Early infantile epileptic encephalopathy 9(B) 1/4/2018 -14.64 2.75 BLB 3 138611 Simple 33956783 A . CI 1 7 not specified(B);not specified(B);Microcephalic Osteodysplastic Primordial Dwarfism(US);not provided(LB);not specified(B);Microcephalic osteodysplastic primordial dwarfism type 2(LB);Microcephalic osteodysplastic primordial dwarfism type 2(LB) 5/31/2017 -22.8 2.142857143 BLB 3 138664 Simple 35560997 C . CI 1 4 not specified(B);not provided(LB);not specified(B);Pyruvate dehydrogenase complex deficiency(US) 6/14/2016 -12.6 2.25 BLB 3 138687 Simple 17855857 T . CI 1 3 "not specified(B);Coenzyme Q10 deficiency, primary(US);Coenzyme Q10 deficiency, primary, 2(B)" 6/14/2016 -9.9 2.333333333 BLB 3 138700 Simple 201167814 T . CI 1 6 not specified(B);Hereditary cancer-predisposing syndrome(LB);Hereditary nonpolyposis colon cancer(LB);Hereditary cancer-predisposing syndrome(LB);not specified(LB);not provided(B) 12/24/2017 -21 1.833333333 BLB 3 138701 Simple 115052399 T . CI 1 6 not specified(B);Hereditary cancer-predisposing syndrome(B);Hereditary nonpolyposis colon cancer(B);Lynch syndrome(US);Hereditary cancer-predisposing syndrome(B);not provided(LB) 1/12/2018 -23.1 2 BLB 3 138711 Simple 151180981 A . CI 1 4 not specified(B);not specified(US);Early infantile epileptic encephalopathy 12(LB);Early infantile epileptic encephalopathy 10(LB) 11/22/2017 -9.6 1.75 BLB 3 138714 Simple 3739199 C . CI 1 4 not specified(B);Early infantile epileptic encephalopathy 10(US);not specified(B);Early infantile epileptic encephalopathy 12(B) 10/28/2017 -15.18 3 BLB 3 138717 Simple 149731642 G . CI 1 6 not specified(B);not specified(LB);not specified(B);Early infantile epileptic encephalopathy 12(B);Epileptic encephalopathy(US);Early infantile epileptic encephalopathy 10(LB) 12/14/2017 -21.3 1.833333333 BLB 3 138719 Simple 3739202 A . CI 1 3 not specified(B);Early infantile epileptic encephalopathy 10(US);Early infantile epileptic encephalopathy 12(B) 9/9/2017 -10.38 3 BLB 3 138725 Simple 146478958 T . CI 1 3 not specified(B);Early infantile epileptic encephalopathy 10(US);Early infantile epileptic encephalopathy 12(B) 1/3/2018 -10.41 2.666666667 BLB 3 138743 Simple 373550219 T . CI 1 5 not specified(B);not specified(US);POLG-Related Spectrum Disorders(US);Progressive sclerosing poliodystrophy(LB);not specified(LB) 12/28/2016 -10.2 1.8 BLB 3 138747 Simple 2307448 A . CI 1 3 not specified(B);not specified(US);Progressive sclerosing poliodystrophy(B) 12/21/2017 -9.9 2 BLB 3 138756 Simple 61752780 T . CI 1 6 not specified(B);POLG-Related Spectrum Disorders(US);Progressive sclerosing poliodystrophy(B);not specified(LB);not specified(B);not specified(B) 1/8/2018 -23.4 1.833333333 BLB 3 138767 Simple 144346886 T . CI 1 5 not specified(B);not specified(US);not specified(B);not specified(LB);Progressive sclerosing poliodystrophy(LB) 8/25/2017 -15.84 2 BLB 3 138780 Simple 148658588 A . CI 1 3 not specified(B);not specified(US);Progressive sclerosing poliodystrophy(B) 12/9/2017 -9.9 2 BLB 3 138802 Simple 147268650 A . CI 1 5 not specified(B);not specified(B);Progressive myoclonus epilepsy with ataxia(US);Progressive myoclonus epilepsy with ataxia(B);not specified(B) 12/18/2017 -21.3 1.8 BLB 3 138803 Simple 144843013 A . CI 1 5 not specified(B);not specified(US);Progressive myoclonus epilepsy with ataxia(US);Progressive myoclonus epilepsy with ataxia(B);not specified(B) 1/10/2018 -16.74 1.8 BLB 3 138808 Simple 116197349 A . CI 1 4 not specified(B);not specified(US);Progressive myoclonus epilepsy with ataxia(US);Progressive myoclonus epilepsy with ataxia(B) 11/27/2017 -10.14 2.25 BLB 3 138877 Simple 45478491 A . CI 1 5 "not specified(B);Hereditary cancer-predisposing syndrome(LB);Breast-ovarian cancer, familial 4(US);Breast-ovarian cancer, familial 4(US);Hereditary cancer-predisposing syndrome(LB)" 12/29/2017 -10.5 1.4 BLB 3 138900 Simple 537723089 A . CI 1 5 "not specified(B);not specified(B);Dilated cardiomyopathy 1DD(B);Cardiovascular phenotype(B);Dilated Cardiomyopathy, Dominant(US)" 12/22/2017 -21.3 1.8 BLB 3 138943 Simple 373721253 T . CI 1 4 not specified(LB);not specified(US);Catecholaminergic polymorphic ventricular tachycardia(B);Cardiovascular phenotype(LB) 5/16/2017 -11.94 1.75 BLB 3 138945 Simple 371934582 A . CI 1 5 "not specified(B);not specified(LB);Cardiomyopathy, ARVC(US);Catecholaminergic polymorphic ventricular tachycardia(US);Cardiovascular phenotype(LB)" 9/16/2016 -9.9 2.2 BLB 3 138952 Simple 376439588 T . CI 1 5 "not specified(B);Catecholaminergic polymorphic ventricular tachycardia(LB);Catecholaminergic polymorphic ventricular tachycardia(US);Cardiomyopathy, ARVC(US);Cardiovascular phenotype(LB)" 6/14/2016 -10.2 2 BLB 3 138954 Simple 186326951 T . CI 1 5 "not specified(B);not specified(LB);Catecholaminergic polymorphic ventricular tachycardia(B);Catecholaminergic polymorphic ventricular tachycardia(US);Cardiomyopathy, ARVC(US)" 11/2/2017 -13.5 1.6 BLB 3 138986 Simple 142910512 T . CI 1 3 not specified(B);not specified(US);Early infantile epileptic encephalopathy(B) 1/5/2018 -10.41 2.666666667 BLB 3 139009 Simple 149859004 T . CI 1 5 "not specified(B);not specified(US);Benign familial neonatal-infantile seizures(LB);Early Infantile Epileptic Encephalopathy, Autosomal Dominant(LB);Benign familial neonatal-infantile seizures(B);Early infantile epileptic encephalopathy 11(B)" 12/6/2017 -15.84 2 BLB 3 139022 Simple 149534277 A . CI 1 5 "not specified(B);not specified(US);Early Infantile Epileptic Encephalopathy, Autosomal Dominant(LB);Benign familial neonatal-infantile seizures(LB);Benign familial neonatal-infantile seizures(LB);Early infantile epileptic encephalopathy 11(LB)" 11/21/2017 -12.87 1.8 BLB 3 139024 Simple 143765389 G . CI 1 3 not specified(B);not specified(US);Benign familial neonatal-infantile seizures(B);Early infantile epileptic encephalopathy 11(B) 9/13/2017 -10.44 2.333333333 BLB 3 139044 Simple 370346797 A . CI 1 11 "not specified(B);not specified(LB);Sick sinus syndrome(US);Dilated Cardiomyopathy, Dominant(US);Romano-Ward syndrome(US);Long QT syndrome(US);Brugada syndrome(US);Paroxysmal familial ventricular fibrillation(US);Progressive familial heart block(US);Brugada syndrome(LB);Cardiovascular phenotype(LB)" 12/11/2017 -13.5 1.636363636 BLB 3 139051 Simple 41313687 T . CI 1 10 "not specified(B);Cardiovascular phenotype(B);Romano-Ward syndrome(US);Paroxysmal familial ventricular fibrillation(US);Brugada syndrome(US);Progressive familial heart block(US);Dilated Cardiomyopathy, Dominant(US);Long QT syndrome(US);Sick sinus syndrome(US);Brugada syndrome(B)" 12/29/2017 -17.1 1.3 BLB 3 139054 Simple 72549411 T . CI 1 12 "not specified(B);not specified(US);Brugada syndrome(LB);Cardiovascular phenotype(LB);Dilated Cardiomyopathy, Dominant(US);Romano-Ward syndrome(US);Sick sinus syndrome(US);Progressive familial heart block(US);Paroxysmal familial ventricular fibrillation(US);Brugada syndrome(US);Long QT syndrome(US);not provided(B)" 1/18/2018 -17.97 1.25 BLB 3 139061 Simple 41313033 T . CI 1 12 "not specified(B);not specified(LB);not specified(US);Brugada syndrome(B);Cardiovascular phenotype(LB);Long QT syndrome(US);Brugada syndrome(US);Romano-Ward syndrome(US);Dilated Cardiomyopathy, Dominant(US);Progressive familial heart block(US);Paroxysmal familial ventricular fibrillation(US);Sick sinus syndrome(US)" 1/8/2018 -16.74 1.666666667 BLB 3 139087 Simple 112793292 T . CI 1 4 "not specified(B);Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency(US);Fatal Infantile Cardioencephalomyopathy(US);not specified(B)" 11/7/2016 -9.6 2.25 BLB 3 139123 Simple 148144444 T . CI 1 7 "not specified(B);not specified(B);not specified(B);not provided(B);Basal ganglia disease, biotin-responsive(B);Basal ganglia disease, biotin-responsive(LB);Basal ganglia disease, biotin-responsive(B)" 12/27/2017 -34.2 2.142857143 B 3 139130 Simple 146402942 A . CI 1 5 "not specified(B);not specified(US);Early Infantile Epileptic Encephalopathy, Autosomal Recessive(US);Early infantile epileptic encephalopathy(LB);not specified(B)" 6/27/2017 -12.57 2 BLB 3 139131 Simple 116134953 T . CI 1 4 not specified(B);Early myoclonic encephalopathy(US);not specified(LB);Early infantile epileptic encephalopathy(LB) 11/19/2017 -9.81 2.75 BLB 3 139139 Simple 145322467 A . CI 1 4 "not specified(B);not specified(LB);Early infantile epileptic encephalopathy(B);Early Infantile Epileptic Encephalopathy, Autosomal Recessive(US)" 12/28/2017 -12.6 2 BLB 3 139140 Simple 147840220 A . CI 1 5 "not specified(B);not specified(US);not specified(US);Early Infantile Epileptic Encephalopathy, Autosomal Recessive(US);Early infantile epileptic encephalopathy(B)" 9/8/2017 -10.98 2.2 BLB 3 139142 Simple 142861804 G . CI 1 4 "not specified(B);Early Infantile Epileptic Encephalopathy, Autosomal Recessive(US);Early infantile epileptic encephalopathy(B);not specified(LB)" 11/21/2017 -13.5 1.5 BLB 3 139145 Simple 146300431 T . CI 1 5 "not specified(B);not specified(LB);not specified(US);Early Infantile Epileptic Encephalopathy, Autosomal Recessive(US);Early infantile epileptic encephalopathy(LB)" 11/8/2017 -9.87 2.2 BLB 3 139157 Simple 369273744 G . CI 1 3 "not specified(B);not specified(US);GLUT1 deficiency syndrome 1, autosomal recessive(B)" 4/13/2017 -10.44 2.666666667 BLB 3 139168 Simple 146879902 A . CI 1 7 "not specified(B);not specified(LB);not specified(US);Dystonia(LB);Glucose transporter type 1 deficiency syndrome(LB);GLUT1 deficiency syndrome 1, autosomal recessive(LB);not specified(B)" 12/19/2017 -22.17 1.571428571 BLB 3 139169 Simple 201323237 T . CI 1 4 not specified(B);Arterial tortuosity syndrome(US);Cardiovascular phenotype(B);Arterial tortuosity syndrome(B) 9/26/2017 -15.9 1.75 BLB 3 139173 Simple 148058006 G . CI 1 7 not specified(B);not specified(LB);Arterial tortuosity syndrome(B);Cardiovascular phenotype(LB);Arterial tortuosity syndrome(US);Arterial tortuosity syndrome(LB);Arterial tortuosity syndrome(LB) 11/20/2017 -21.9 1.428571429 BLB 3 139175 Simple 76315093 A . CI 1 6 Arterial tortuosity syndrome(US);not specified(B);Arterial tortuosity syndrome(B);Arterial tortuosity syndrome(B);not specified(B);Arterial tortuosity syndrome(B) 8/8/2017 -26.1 2 BLB 3 139176 Simple 117587497 A . CI 1 5 not specified(B);Arterial tortuosity syndrome(B);Cardiovascular phenotype(LB);Arterial tortuosity syndrome(US);Arterial tortuosity syndrome(LB) 11/18/2017 -15.3 1.8 BLB 3 139222 Simple 138863915 A . CI 1 5 not specified(B);Long QT syndrome(B);Cardiovascular phenotype(LB);Romano-Ward syndrome(US);Long QT syndrome(US) 5/3/2017 -12.3 2.2 BLB 3 139239 Simple 116319889 T . CI 1 3 "not specified(B);Spastic paraplegia 7(B);Spastic Paraplegia, Recessive(US)" 12/11/2017 -9.9 2 BLB 3 139241 Simple 111475461 A . CI 1 4 "not specified(B);Spastic paraplegia 7(B);Spastic Paraplegia, Recessive(US);not specified(B)" 11/17/2017 -16.5 1.25 BLB 3 139245 Simple 60488729 T . CI 1 3 "not specified(B);Spastic Paraplegia, Recessive(US);Spastic paraplegia 7(B)" 11/28/2017 -10.5 1.666666667 BLB 3 139248 Simple 79756036 A . CI 1 3 "not specified(B);Spastic paraplegia 7(B);Spastic Paraplegia, Recessive(US)" 11/28/2017 -9.9 2 BLB 3 139249 Simple 11559075 A . CI 1 3 "not specified(B);Spastic paraplegia 7(B);Spastic Paraplegia, Recessive(US)" 7/16/2017 -10.5 1.666666667 BLB 3 139251 Simple 61747712 T . CI 1 3 "not specified(B);Spastic paraplegia 7(B);Spastic Paraplegia, Recessive(US)" 1/9/2017 -10.5 2 BLB 3 139269 Simple 77358650 A . CI 1 5 "not specified(B);not specified(B);not specified(B);Early Infantile Epileptic Encephalopathy, Autosomal Dominant(LB);Early infantile epileptic encephalopathy(B)" 12/11/2017 -24.6 1.6 BLB 3 139307 Simple 150902677 T . CI 1 3 "not specified(B);Early Infantile Epileptic Encephalopathy, Autosomal Dominant(US);Early infantile epileptic encephalopathy(B)" 10/19/2017 -10.5 1.666666667 BLB 3 139308 Simple 147132904 T . CI 1 4 not specified(B);not specified(B);not specified(US);Early infantile epileptic encephalopathy(B) 10/3/2017 -15.24 2.5 BLB 3 139309 Simple 72758823 T . CI 1 5 "not specified(B);not specified(LB);not specified(US);Early Infantile Epileptic Encephalopathy, Autosomal Dominant(LB);Early infantile epileptic encephalopathy(LB)" 9/27/2017 -13.5 1.4 BLB 3 139316 Simple 187613754 T . CI 1 4 not specified(B);Early infantile epileptic encephalopathy 5(US);not specified(US);Early infantile epileptic encephalopathy(B) 10/20/2017 -10.68 2.5 BLB 3 139323 Simple 73636611 G . CI 1 4 "not specified(B);not specified(US);not provided(LB);Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked(B)" 10/12/2017 -12.84 2.25 BLB 3 139334 Simple 375315233 A . CI 1 4 not specified(B);Hereditary cancer-predisposing syndrome(LB);Peutz-Jeghers syndrome(LB);Hereditary cancer-predisposing syndrome(LB) 11/23/2016 -12.6 2.25 BLB 3 139336 Simple 202011521 A . CI 1 6 not specified(B);Hereditary cancer-predisposing syndrome(B);Peutz-Jeghers syndrome(B);Peutz-Jeghers syndrome(US);not specified(LB);Hereditary cancer-predisposing syndrome(LB) 12/24/2017 -22.2 1.5 BLB 3 139356 Simple 147607230 T . CI 1 5 "not specified(B);not specified(US);Early infantile epileptic encephalopathy(B);not specified(LB);Early Infantile Epileptic Encephalopathy, Autosomal Dominant(LB)" 4/25/2017 -15.54 2.4 BLB 3 139379 Simple 587598397 T . CI 1 3 not specified(B);Leigh syndrome(US);Leigh syndrome(B) 11/13/2017 -10.5 1.666666667 BLB 3 139393 Simple 201374999 A . CI 1 5 "not specified(B);Myoclonic epilepsy, familial infantile(US);Epileptic encephalopathy, early infantile, 1(B);Deafness, autosomal dominant 65(B);Caused by mutation in the TBC1 domain family, member 24(B);not specified(B);not specified(B)" 1/2/2018 -22.5 1.4 BLB 3 139397 Simple 184389316 T . CI 1 6 "not specified(B);not specified(B);Myoclonic epilepsy, familial infantile(US);Epileptic encephalopathy, early infantile, 1(B);Deafness, autosomal dominant 65(B);Caused by mutation in the TBC1 domain family, member 24(B);not specified(LB);not specified(LB)" 11/6/2017 -21.9 1.5 BLB 3 139398 Simple 75961715 T . CI 1 4 "not specified(B);not specified(B);Myoclonic epilepsy, familial infantile(US);Epileptic encephalopathy, early infantile, 1(B);Deafness, autosomal dominant 65(B);Caused by mutation in the TBC1 domain family, member 24(B)" 9/5/2017 -15.9 1.75 BLB 3 139576 Simple 147680216 A . CI 1 4 "Odontoonychodermal dysplasia(US);Tooth agenesis, selective, 4(US);Selective tooth agenesis(LB);Schopf-Schulz-Passarge syndrome(LB);Odontoonychodermal dysplasia(LB)" 6/14/2016 -9.27 1.25 BLB 3 140786 Simple 368771578 G . CI 1 7 Hereditary cancer-predisposing syndrome(LB);not specified(LB);Li-Fraumeni syndrome(LB);Li-Fraumeni syndrome 1(US);not specified(US);not specified(US);not provided(US) 1/25/2018 -10.17 0.714285714 BLB 3 140819 Simple 45437094 A . CI 1 6 "Hereditary cancer-predisposing syndrome(US);Familial cancer of breast(LB);Fanconi anemia, complementation group J(LB);not specified(US);Fanconi anemia, complementation group J(US);Neoplasm of ovary(US);not provided(B)" 12/11/2017 -9.6 0.666666667 BLB 3 140867 Simple 2229022 T . CI 1 5 Hereditary cancer-predisposing syndrome(LB);not specified(LB);Ataxia-telangiectasia syndrome(LB);not specified(US);not provided(US) 1/10/2018 -9.6 0.6 BLB 3 140943 Simple 587781386 C . CI 1 4 Hereditary cancer-predisposing syndrome(LB);not specified(LB);Li-Fraumeni syndrome(LB);Li-Fraumeni syndrome 1(US) 11/2/2017 -9.27 0.5 BLB 3 140994 Simple 587780602 TGCTGC . CI 1 6 Familial adenomatous polyposis 1(US);Hereditary cancer-predisposing syndrome(LB);not specified(US);not specified(US);Hereditary cancer-predisposing syndrome(US);not provided(B) 1/9/2018 -10.17 0.833333333 BLB 3 141038 Simple 587776476 C . CI 1 5 Hereditary breast and ovarian cancer syndrome(LB);not specified(US);not provided(US);not specified(LB);Hereditary cancer-predisposing syndrome(LB) 12/17/2017 -9.21 1.6 BLB 3 141343 Simple 138969595 A . CI 1 5 "Hereditary cancer-predisposing syndrome(LB);not specified(LB);Breast and Ovarian Cancer Susceptibility(US);Breast-ovarian cancer, familial 4(US);Breast-ovarian cancer, familial 4(LB)" 12/15/2017 -9.6 0.4 BLB 3 141578 Simple 56026142 T . CI 1 7 "Hereditary cancer-predisposing syndrome(LB);Breast-ovarian cancer, familial 4(LB);not specified(US);Breast and Ovarian Cancer Susceptibility(US);Breast-ovarian cancer, familial 4(US);not specified(LB);Hereditary cancer-predisposing syndrome(LB)" 12/27/2017 -12.57 0.857142857 BLB 3 141595 Simple 587781864 T . CI 1 5 Hereditary cancer-predisposing syndrome(P);MYH-associated polyposis(US);not specified(US);not provided(LP);Hereditary cancer-predisposing syndrome(LP) 8/29/2017 11.49 1 PLP 3 141600 Simple 529380972 G . CI 1 7 Hereditary cancer-predisposing syndrome(US);Melanoma-pancreatic cancer syndrome(LB);not specified(B);Hereditary cutaneous melanoma(B);not specified(B);Hereditary cancer-predisposing syndrome(B);not provided(B) 1/11/2018 -33.21 1.142857143 B 3 141729 Simple 587780871 T . CI 1 4 Hereditary cancer-predisposing syndrome(B);not specified(LB);not specified(LB);Hereditary breast and ovarian cancer syndrome(US) 12/27/2017 -10.5 1.75 BLB 3 141764 Simple 55832599 A . CI 1 4 Hereditary cancer-predisposing syndrome(LP);not provided(LP);Li-Fraumeni syndrome(US);Hereditary cancer-predisposing syndrome(LP) 10/19/2017 8.7 0.5 PLP 3 141797 Simple 587782020 T . CI 1 3 Hereditary cancer-predisposing syndrome(LB);Peutz-Jeghers syndrome(B);Peutz-Jeghers syndrome(US) 11/20/2017 -9.27 1 BLB 3 141810 Simple 376097289 G . CI 1 8 Hereditary cancer-predisposing syndrome(LB);not specified(LB);Hereditary diffuse gastric cancer(B);Hereditary diffuse gastric cancer(LB);Hereditary diffuse gastric cancer(US);not specified(US);Hereditary cancer-predisposing syndrome(LB);not provided(LB) 2/21/2018 -21.57 0.875 BLB 3 141818 Simple 200928781 G . CI 1 4 Hereditary cancer-predisposing syndrome(LP);Familial cancer of breast(US);not provided(LP);Hereditary cancer-predisposing syndrome(LP) 10/20/2017 8.7 0.5 PLP 3 141854 Simple 587782061 G . CI 1 5 Hereditary cancer-predisposing syndrome(LB);Hereditary diffuse gastric cancer(US);Hereditary diffuse gastric cancer(US);not specified(LB);Hereditary cancer-predisposing syndrome(LB) 12/1/2017 -9.57 1 BLB 3 141867 Simple 371454630 C . CI 1 6 Hereditary cancer-predisposing syndrome(LB);not specified(US);Hereditary breast and ovarian cancer syndrome(US);not specified(US);Hereditary cancer-predisposing syndrome(LB);not specified(LB) 4/14/2017 -9.39 2.333333333 BLB 3 141931 Simple 112610898 C . CI 1 5 Hereditary cancer-predisposing syndrome(US);Familial adenomatous polyposis 1(B);not specified(US);Hereditary cancer-predisposing syndrome(US);not provided(LB) 1/12/2018 -9.9 0.6 BLB 3 142004 Simple 587782173 T . CI 1 5 "Hereditary cancer-predisposing syndrome(LP);Breast-ovarian cancer, familial 1(P);not provided(LP);not specified(US);Hereditary breast and ovarian cancer syndrome(US)" 11/13/2017 10.8 0.8 PLP 3 142011 Simple 587776399 G . CI 1 4 Hereditary cancer-predisposing syndrome(LB);not specified(US);Hereditary diffuse gastric cancer(LB);Hereditary diffuse gastric cancer(LB) 12/18/2017 -9.3 0.25 BLB 3 142034 Simple 567202367 T . CI 1 5 Hereditary cancer-predisposing syndrome(LB);Peutz-Jeghers syndrome(LB);Peutz-Jeghers syndrome(US);Peutz-Jeghers syndrome(LB);Hereditary cancer-predisposing syndrome(LB) 12/11/2017 -12.27 0.8 BLB 3 142091 Simple 370609910 A . CI 1 5 "Hereditary cancer-predisposing syndrome(US);Hereditary cutaneous melanoma(LB);Cutaneous Malignant Melanoma, Dominant(US);not specified(LB);not provided(B)" 11/27/2017 -12.6 0.4 BLB 3 142156 Simple 144856889 A . CI 1 4 Hereditary cancer-predisposing syndrome(LB);not specified(US);Familial cancer of breast(LB);not provided(LB) 12/5/2017 -9.3 0.75 BLB 3 142319 Simple 370976710 A . CI 1 4 Hereditary cancer-predisposing syndrome(LB);not specified(LB);Peutz-Jeghers syndrome(B);not specified(US) 1/11/2018 -12.3 0.5 BLB 3 142324 Simple 371409680 T . CI 1 7 Hereditary cancer-predisposing syndrome(LP);Astrocytoma(US);not provided(LP);Li-Fraumeni syndrome(US);Li-Fraumeni syndrome(LP);not provided(LP);not specified(LP) 12/9/2017 14.4 0.571428571 PLP 3 142397 Simple 587780544 - . CI 1 9 Hereditary cancer-predisposing syndrome(US);not specified(LB);PTEN hamartoma tumor syndrome(LB);PTEN hamartoma tumor syndrome(US);Cowden syndrome 1(US);not specified(US);not specified(US);not provided(LB);not specified(US) 12/28/2017 -10.68 1.111111111 BLB 3 142421 Simple 576055272 T . CI 1 4 Hereditary cancer-predisposing syndrome(LB);Hereditary nonpolyposis colon cancer(B);not specified(US);not specified(B) 7/4/2017 -15.3 0.5 BLB 3 142445 Simple 143965148 T . CI 1 5 Hereditary cancer-predisposing syndrome(LB);Familial cancer of breast(LB);not specified(US);Familial cancer of breast(US);not provided(LB) 12/27/2017 -9.6 0.6 BLB 3 142450 Simple 370359540 A . CI 1 4 Hereditary cancer-predisposing syndrome(LB);Familial cancer of breast(B);not specified(US);not provided(B) 12/28/2017 -14.7 1 BLB 3 142524 Simple 72552322 T . CI 1 6 "Hereditary cancer-predisposing syndrome(LP);not provided(LP);Familial cancer of breast(US);Breast and colorectal cancer, susceptibility to(LP);not provided(LP);Hereditary cancer-predisposing syndrome(LP)" 1/1/2018 14.4 0.5 PLP 3 142552 Simple 35993958 A . CI 1 4 Hereditary cancer-predisposing syndrome(LB);Li-Fraumeni syndrome(US);not specified(LB);Hereditary cancer-predisposing syndrome(LB) 12/5/2017 -8.7 0.75 BLB 3 142578 Simple 368492235 A . CI 1 6 Hereditary cancer-predisposing syndrome(US);not specified(LB);Hereditary diffuse gastric cancer(LB);Hereditary diffuse gastric cancer(US);Hereditary diffuse gastric cancer(LB);not provided(LB) 11/28/2017 -12.57 0.833333333 BLB 3 142624 Simple 587782596 A . CI 1 3 Hereditary cancer-predisposing syndrome(LP);Li-Fraumeni syndrome(P);not specified(US) 12/18/2017 8.7 0.666666667 PLP 3 142797 Simple 576279166 C . CI 1 6 "Hereditary cancer-predisposing syndrome(US);Hereditary breast and ovarian cancer syndrome(LB);Fanconi anemia(LB);Hereditary breast and ovarian cancer syndrome(LB);Breast-ovarian cancer, familial 2(US);not specified(LB)" 1/3/2018 -12.57 0.833333333 BLB 3 142959 Simple 139194813 T . CI 1 4 Hereditary cancer-predisposing syndrome(LB);not specified(US);Hereditary nonpolyposis colon cancer(B);not provided(US) 1/4/2018 -9.6 0.25 BLB 3 142961 Simple 587782853 ACTAAACTAA . CI 1 5 Hereditary cancer-predisposing syndrome(US);Hereditary cancer-predisposing syndrome(B);Hereditary nonpolyposis colon cancer(LB);Hereditary nonpolyposis colorectal cancer type 5(LB);not specified(LB) 1/5/2018 -14.1 1.2 BLB 3 143004 Simple 587782886 A . CI 1 5 Hereditary cancer-predisposing syndrome(LB);not specified(US);Familial adenomatous polyposis 1(B);Hereditary cancer-predisposing syndrome(US);not provided(US) 12/18/2017 -9.87 0.6 BLB 3 143132 Simple 147834269 A . CI 1 5 "not specified(B);not specified(LB);Diabetes mellitus AND insipidus with optic atrophy AND deafness(US);Nonsyndromic Hearing Loss, Dominant(LB);WFS1-Related Spectrum Disorders(LB)" 8/4/2016 -14.07 1.6 BLB 3 143152 Simple 148000791 C . CI 1 6 Joubert syndrome(LB);Joubert syndrome(B);not specified(B);not specified(LB);Joubert syndrome 3(LP);not provided(B) 1/3/2018 -21.6 1.5 BLB 3 143344 Simple 267608572 T . CI 1 4 not specified(LB);not specified(US);Rett syndrome(LB);Severe neonatal-onset encephalopathy with microcephaly(B) 2/15/2018 -11.94 1.25 BLB 3 143383 Simple 63390262 A . CI 1 4 not provided(LB);not specified(LB);not specified(LB);Severe neonatal-onset encephalopathy with microcephaly(B) 2/5/2018 -14.4 0.75 BLB 3 143396 Simple 267608406 . . CI 1 2 not specified(B);Severe neonatal-onset encephalopathy with microcephaly(LB) 11/17/2017 -8.4 1 BLB 3 143579 Simple 61748404 C . CI 1 3 Rett syndrome(P);not provided(P);not specified(US) 1/19/2017 9.33 2.666666667 PLP 3 143603 Simple 61748420 A . CI 1 2 Rett syndrome(P);not provided(P) 6/13/2017 9.6 2.5 PLP 3 143738 Simple 61749723 A . CI 1 2 not provided(P);Rett syndrome(LP) 11/16/2016 8.7 1.5 PLP 3 143749 Simple 61751444 A . CI 1 4 "not provided(P);Rett syndrome(P);Mental retardation, X-linked, syndromic 13(LP);Inborn genetic diseases(LP)" 6/22/2017 17.7 1 P 3 155748 Simple 151117904 G . CI 1 4 "Ataxia with Oculomotor Apraxia(LB);Amyotrophic Lateral Sclerosis, Dominant(LB);not provided(LB);Amyotrophic lateral sclerosis type 4(B);Spinocerebellar ataxia autosomal recessive 1(B)" 12/26/2017 -15 0.75 BLB 3 155778 Simple 367643805 A . CI 1 4 "not specified(US);not specified(B);Ehlers-Danlos syndrome, classic type(B);Ehlers-Danlos syndrome, type 7A(US)" 10/14/2017 -11.4 1.25 BLB 3 155796 Simple 147157552 A . CI 1 6 not specified(US);not specified(LB);not specified(US);Congenital contractural arachnodactyly(LB);Cardiovascular phenotype(LB);Congenital contractural arachnodactyly(LB) 2/2/2018 -12.51 1 BLB 3 155811 Simple 142992009 G . CI 1 8 not specified(US);not provided(LB);not specified(LB);Familial hypertrophic cardiomyopathy 14(LB);Inborn genetic diseases(US);not specified(LB);not provided(LB);not specified(LB) 12/7/2017 -16.95 2 BLB 3 155817 Simple 201960644 A . CI 1 5 "not specified(B);not specified(LB);Aortic aneurysm, familial thoracic 4(LB);Thoracic aortic aneurysm and aortic dissection(US);Cardiovascular phenotype(LB)" 2/8/2018 -14.4 1 BLB 3 155837 Simple 10482810 C . CI 1 7 Cardiovascular phenotype(LB);Loeys-Dietz syndrome(LB);Loeys-Dietz syndrome 4(US);not specified(B);not provided(LB);not specified(B);Holt-Oram syndrome(B) 3/12/2018 -27.27 0.857142857 B 3 155865 Simple 12623957 A . CI 1 4 "not specified(B);not specified(B);Hypohidrotic Ectodermal Dysplasia, Dominant(B);not specified(B)" 12/12/2016 -22.2 1.75 BLB 3 155870 Simple 260632 A . CI 1 2 "not specified(B);Hypohidrotic Ectodermal Dysplasia, Dominant(B)" 6/14/2016 -10.2 2.5 BLB 3 155871 Simple 3218613 A . CI 1 2 Autoimmune lymphoproliferative syndrome(LB);Autoimmune lymphoproliferative syndrome(B) 11/30/2017 -9 0.5 BLB 3 156063 Simple 61753982 - . CI 1 2 not specified(B);not provided(LB) 6/2/2017 -8.4 1 BLB 3 156167 Simple 374191973 G . CI 1 4 not specified(LB);Hereditary breast and ovarian cancer syndrome(US);Hereditary cancer-predisposing syndrome(LB);Hereditary cancer-predisposing syndrome(LB) 12/4/2017 -9.3 0.25 BLB 3 156440 Simple 2230267 C . CI 1 4 "not specified(B);Neuroferritinopathy(B);Hyperferritinemia cataract syndrome(B);Glycogen storage disease 0, muscle(B)" 6/14/2016 -22.2 1.75 BLB 3 156661 Simple 587783132 A . CI 1 2 not provided(P);not provided(P) 6/15/2016 11.4 1.5 PLP 3 156694 Simple 587783161 T . CI 1 3 not specified(LB);not specified(US);Early infantile epileptic encephalopathy 2(B);Angelman syndrome-like(B) 10/9/2017 -9.27 1 BLB 3 157521 Simple 587781246 T . CI 1 2 not specified(B);Charcot-Marie-Tooth Neuropathy X(LB) 2/19/2018 -9 0.5 BLB 3 157543 Simple 72554071 A . CI 1 3 not specified(LB);Brugada syndrome(LB);Cardiovascular phenotype(B) 6/5/2017 -12 0.666666667 BLB 3 157596 Simple 73969684 T . CI 1 11 "not specified(LB);Congenital Indifference to Pain(LB);Familial Febrile Seizures(LB);Small fiber neuropathy(LB);Severe myoclonic epilepsy in infancy(LB);Inherited Erythromelalgia(LB);Generalized epilepsy with febrile seizures plus(LB);Paroxysmal extreme pain disorder(LB);not provided(LB);not specified(B);Hereditary sensory and autonomic neuropathy type IIA(B);Generalized epilepsy with febrile seizures plus, type 7(B)" 1/10/2018 -38.4 1.090909091 B 3 157597 Simple 182650126 C . CI 1 13 "not specified(US);not specified(US);not specified(LB);Familial Febrile Seizures(LB);Generalized epilepsy with febrile seizures plus(LB);Paroxysmal extreme pain disorder(LB);Severe myoclonic epilepsy in infancy(LB);Congenital Indifference to Pain(LB);Inherited Erythromelalgia(LB);Small fiber neuropathy(LB);Hereditary sensory and autonomic neuropathy type IIA(B);Generalized epilepsy with febrile seizures plus, type 7(B);not specified(LB);not provided(US)" 1/2/2018 -33.51 1.230769231 B 3 157682 Simple 587783164 - . CI 1 5 "Persistent hyperinsulinemic hypoglycemia of infancy(US);Permanent neonatal diabetes mellitus(LB);Transient Neonatal Diabetes, Dominant(LB);Hyperinsulinism, Dominant/Recessive(LB);not specified(US)" 6/14/2016 -9.48 1.8 BLB 3 157703 Simple 145673861 A . CI 1 4 "Persistent hyperinsulinemic hypoglycemia of infancy(US);Transient Neonatal Diabetes, Dominant(LB);Permanent neonatal diabetes mellitus(LB);Hyperinsulinism, Dominant/Recessive(LB)" 6/14/2016 -9.21 1.75 BLB 3 157711 Simple 34442536 T . CI 1 4 not specified(B);not specified(B);Rhizomelic chondrodysplasia punctata(US);not specified(B) 12/5/2016 -15.9 2 BLB 3 157743 Simple 398124508 GGCGGC . CI 1 4 "not specified(LB);Epileptic encephalopathy, early infantile, 1(B);Mental retardation, with or without seizures, ARX-related, X-linked(B);not specified(LB);Inborn genetic diseases(LB)" 12/18/2017 -14.7 0.75 BLB 3 157755 Simple 587783198 GCCGCC . CI 1 4 "not specified(B);Epileptic encephalopathy, early infantile, 1(LB);Mental retardation, with or without seizures, ARX-related, X-linked(LB);not specified(LB);Inborn genetic diseases(US)" 1/16/2018 -10.44 1.75 BLB 3 157768 Simple 141108591 A . CI 1 3 "not specified(B);Primary Microcephaly, Recessive(US);not specified(LB)" 6/14/2016 -8.4 1.666666667 BLB 3 157769 Simple 112113370 T . CI 1 4 "Primary autosomal recessive microcephaly 5(US);not specified(B);Primary Microcephaly, Recessive(US);not specified(LB)" 3/18/2017 -8.88 2.25 BLB 3 157784 Simple 144049904 A . CI 1 4 "not specified(LB);not specified(LB);Primary Microcephaly, Recessive(US);not specified(LB)" 8/15/2017 -9 0.75 BLB 3 157790 Simple 113611857 A . CI 1 3 "not specified(B);Primary Microcephaly, Recessive(US);not specified(B)" 6/14/2016 -8.7 3 BLB 3 157793 Simple 61995747 T . CI 1 5 "not specified(B);not specified(B);Primary Microcephaly, Recessive(US);not specified(B);not provided(LB)" 4/27/2017 -17.7 2.2 BLB 3 157798 Simple 552158003 C . CI 1 3 Primary autosomal recessive microcephaly 5(US);not specified(B);not specified(LB) 12/27/2016 -8.58 2.666666667 BLB 3 157808 Simple 138558822 C . CI 1 4 "not specified(B);not specified(B);Primary Microcephaly, Recessive(US);not specified(B)" 10/6/2016 -17.1 1.5 BLB 3 157809 Simple 41299587 C . CI 1 6 "not specified(B);not specified(B);Primary Microcephaly, Recessive(US);not specified(B);not specified(LB);Primary autosomal recessive microcephaly 5(B)" 6/22/2017 -24.9 1.5 BLB 3 157818 Simple 139367209 A . CI 1 5 "not specified(B);not specified(B);Primary Microcephaly, Recessive(US);not provided(LB);not specified(B)" 9/29/2016 -19.5 1.6 BLB 3 157830 Simple 143733126 G . CI 1 3 Primary autosomal recessive microcephaly 5(US);not specified(B);not specified(B) 8/15/2017 -11.58 2.333333333 BLB 3 157838 Simple 112230218 T . CI 1 3 "not specified(B);Primary Microcephaly, Recessive(US);not specified(B)" 7/18/2016 -11.1 1.666666667 BLB 3 157868 Simple 111487086 T . CI 1 3 "not specified(B);Primary Microcephaly, Recessive(US);not specified(B)" 6/14/2016 -9.3 2.666666667 BLB 3 157893 Simple 113777932 G . CI 1 4 "Primary autosomal recessive microcephaly 5(US);not specified(B);Primary Microcephaly, Recessive(US);not specified(LB)" 3/18/2017 -8.88 2.25 BLB 3 157903 Simple 77736715 T . CI 1 4 "Primary autosomal recessive microcephaly 5(US);not specified(B);Primary Microcephaly, Recessive(US);not specified(LB)" 3/18/2017 -8.88 2.25 BLB 3 157912 Simple 140150599 C . CI 1 4 "not specified(B);not specified(B);Primary Microcephaly, Recessive(US);not specified(LB)" 3/2/2018 -13.5 1.5 BLB 3 157923 Simple 139927527 G . CI 1 4 "not specified(B);not specified(B);Primary Microcephaly, Recessive(US);not specified(LB)" 1/5/2017 -13.5 1.75 BLB 3 157924 Simple 34578730 T . CI 1 5 Alternating hemiplegia of childhood 2(US);not specified(B);Dystonia 12(LB);Alternating hemiplegia of childhood(LB);Dystonia 12(B) 1/3/2018 -17.64 1.4 BLB 3 157930 Simple 587783299 G . CI 1 4 Wilson disease(P);Wilson disease(LP);not specified(US);Wilson disease(P) 6/8/2017 11.4 2.5 PLP 3 157954 Simple 114771537 A . CI 1 5 Wilson disease(US);not specified(B);Wilson disease(B);not provided(B);not specified(B) 12/5/2017 -22.5 1.4 BLB 3 158008 Simple 61748155 A . CI 1 5 not specified(B);not specified(B);Autosomal recessive centronuclear myopathy(US);not specified(B);Autosomal recessive centronuclear myopathy(B) 7/11/2017 -20.1 2.2 BLB 3 158014 Simple 35535012 T . CI 1 5 Autosomal recessive centronuclear myopathy(US);not specified(US);Autosomal recessive centronuclear myopathy(US);not specified(LB);Autosomal recessive centronuclear myopathy(B) 2/1/2018 -9.78 1.4 BLB 3 158021 Simple 114833236 A . CI 1 3 Autosomal recessive centronuclear myopathy(US);Autosomal recessive centronuclear myopathy(B);not specified(B) 12/15/2017 -12.3 0.666666667 BLB 3 158031 Simple 72736758 T . CI 1 5 Joubert syndrome(US);not specified(B);Orofaciodigital syndrome 6(B);Joubert syndrome 17(B);Joubert syndrome 17(B);Joubert syndrome 17(LB) 7/11/2017 -19.2 1.6 BLB 3 158035 Simple 79935028 G . CI 1 3 Joubert syndrome(US);not specified(B);Joubert syndrome 17(LB) 2/7/2017 -9 1.333333333 BLB 3 158041 Simple 149313666 T . CI 1 7 not specified(B);Joubert syndrome(US);not provided(LB);Orofaciodigital syndrome 6(B);Joubert syndrome 17(B);not specified(B);Joubert syndrome 17(B);Joubert syndrome 17(US) 8/11/2017 -25.74 1.428571429 BLB 3 158050 Simple 34737149 A . CI 1 4 Joubert syndrome 17(US);not specified(B);Joubert syndrome(US);not specified(LB) 2/21/2018 -8.94 1.5 BLB 3 158054 Simple 114126795 A . CI 1 5 not specified(B);Joubert syndrome(US);not specified(B);Joubert syndrome 17(B);Orofaciodigital syndrome 6(B);Joubert syndrome 17(B) 1/4/2018 -23.7 0.8 BLB 3 158055 Simple 77014998 T . CI 1 6 Joubert syndrome(US);Orofaciodigital syndrome 6(B);Joubert syndrome 17(B);not specified(LB);Joubert syndrome 17(B);Joubert syndrome 17(LB);not specified(LB) 1/8/2018 -18.9 1.666666667 BLB 3 158172 Simple 76132121 C . CI 1 3 "not specified(B);Primary Microcephaly, Recessive(US);not specified(B)" 6/14/2016 -9.3 2.666666667 BLB 3 158217 Simple 35498994 A . CI 1 4 "not specified(B);not specified(B);Primary Microcephaly, Recessive(LB);Seckel syndrome(LB)" 6/14/2016 -15 2.25 BLB 3 158240 Simple 182018947 C . CI 1 6 Primary autosomal recessive microcephaly 9(P);Primary autosomal recessive microcephaly 9(P);Seckel syndrome 5(P);not provided(P);CEP152-Related Disorders(US);Seckel syndrome 5(P);Primary autosomal recessive microcephaly 9(P) 5/18/2017 25.5 2.166666667 P 3 158252 Simple 74012142 T . CI 1 5 "not specified(B);Primary Microcephaly, Recessive(US);Seckel syndrome(US);not provided(LB);not specified(B)" 2/20/2017 -13.2 1.8 BLB 3 158269 Simple 150910683 C . CI 1 4 "not specified(B);Seckel syndrome(US);Primary Microcephaly, Recessive(US);not specified(LB)" 6/8/2017 -9 1 BLB 3 158297 Simple 114996731 G . CI 1 5 CHARGE association(US);not specified(B);CHARGE association(LB);Hypogonadism with anosmia(LB);not provided(LB) 8/11/2017 -13.98 2 BLB 3 158318 Simple 61742801 G . CI 1 3 CHARGE association(US);not specified(B);CHARGE association(B) 11/3/2017 -11.58 2.333333333 BLB 3 158330 Simple 55685423 C . CI 1 5 "Epilepsy, nocturnal frontal lobe, type 3(US);not specified(LB);not specified(B);Autosomal dominant nocturnal frontal lobe epilepsy(B);not provided(LB)" 1/3/2018 -17.61 1.8 BLB 3 158419 Simple 142473303 T . CI 1 4 not specified(LB);D-2-hydroxyglutaric aciduria(US);D-2-hydroxyglutaric aciduria(US);D-2-hydroxyglutaric aciduria 1(B) 12/22/2017 -8.7 1.5 BLB 3 158780 Simple 73302197 A . CI 1 4 Kabuki syndrome 1(US);not specified(B);Kabuki syndrome(LB);Kabuki syndrome(B) 11/18/2017 -13.38 2.5 BLB 3 158808 Simple 8142483 T . CI 1 4 "Congenital Muscular Dystrophy, alpha-dystroglycan related(US);Walker-Warburg Syndrome(US);not specified(B);Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6(B)" 1/2/2018 -12.6 0.75 BLB 3 158856 Simple 45540031 G . CI 1 4 "not specified(LB);not specified(B);Primary Microcephaly, Recessive(US);not specified(LB)" 12/22/2017 -11.1 1.25 BLB 3 158882 Simple 587783744 CCTCCT . CI 1 3 not specified(B);Severe neonatal-onset encephalopathy with microcephaly(B);Severe neonatal-onset encephalopathy with microcephaly(US) 12/19/2017 -10.5 1.333333333 BLB 3 159030 Simple 2291703 G . CI 1 3 not specified(B);not specified(B);Cornelia de Lange Syndrome(US) 6/14/2016 -9.3 2.666666667 BLB 3 159051 Simple 185678374 A . CI 1 4 Cornelia de Lange syndrome 1(US);not specified(LB);Cornelia de Lange Syndrome(LB);not provided(LB) 5/3/2017 -8.88 2.25 BLB 3 159260 Simple 34921128 T . CI 1 4 Sotos syndrome 1(US);not specified(B);not specified(B);Beckwith-Wiedemann syndrome(B) 8/18/2017 -15.18 3 BLB 3 159269 Simple 559617787 A . CI 1 5 Sotos syndrome 1(US);Sotos Syndrome(LB);Weaver syndrome(LB);not specified(LB);Beckwith-Wiedemann syndrome(LB) 12/18/2017 -11.58 2 BLB 3 159467 Simple 143954823 G . CI 1 3 not provided(US);not specified(LB);Joubert syndrome(B);Oral-facial-digital syndrome(B) 10/10/2017 -9.21 1.666666667 BLB 3 159593 Simple 117987006 T . CI 1 4 not specified(LB);not specified(LB);Microcephalic Osteodysplastic Primordial Dwarfism(US);not specified(LB) 7/28/2017 -9.3 0.75 BLB 3 159599 Simple 62224222 T . CI 1 5 not specified(B);not specified(B);Microcephalic Osteodysplastic Primordial Dwarfism(US);not provided(LB);not specified(B) 9/25/2017 -17.7 2 BLB 3 159602 Simple 143796569 A . CI 1 4 not specified(B);not specified(B);Microcephalic Osteodysplastic Primordial Dwarfism(US);not specified(LB) 7/14/2016 -14.1 1.5 BLB 3 159617 Simple 61735808 A . CI 1 4 not specified(LB);not specified(LB);Microcephalic Osteodysplastic Primordial Dwarfism(US);not specified(LB) 6/14/2016 -8.4 1.75 BLB 3 159639 Simple 144471022 T . CI 1 5 not specified(LB);not specified(B);Microcephalic Osteodysplastic Primordial Dwarfism(US);not provided(LB);not specified(B) 2/20/2018 -16.8 1.2 BLB 3 159662 Simple 61735819 T . CI 1 4 not specified(B);not specified(B);Microcephalic Osteodysplastic Primordial Dwarfism(US);not specified(B) 6/14/2016 -12.9 3.25 BLB 3 159794 Simple 34472250 T . CI 1 7 not provided(US);not specified(LB);Early infantile epileptic encephalopathy 12(B);Early infantile epileptic encephalopathy 10(US);Ataxia-oculomotor apraxia 4(US);not specified(US);Early infantile epileptic encephalopathy 10(US);not specified(US) 12/18/2017 -10.41 1.142857143 BLB 3 159819 Simple 41277835 C . CI 1 5 "Robinow syndrome, autosomal recessive(US);not specified(B);Brachydactyly(LB);Robinow syndrome(LB);not provided(LB)" 5/15/2017 -14.64 1.6 BLB 3 159822 Simple 148237260 T . CI 1 4 "Robinow syndrome, autosomal recessive(US);not specified(B);Robinow syndrome(LB);Brachydactyly(LB)" 6/14/2016 -10.98 2.5 BLB 3 159842 Simple 139363830 T . CI 1 8 "not specified(LB);Central core disease(LB);Multiminicore Disease(LB);Malignant hyperthermia susceptibility(LB);Neuromuscular disease, congenital, with uniform type 1 fiber(LB);not specified(LB);not specified(LB);RYR1-Related Disorders(B)" 1/24/2018 -26.1 1.125 BLB 3 159852 Simple 76537615 T . CI 1 7 "Multiminicore Disease(LB);Malignant hyperthermia susceptibility(LB);Neuromuscular disease, congenital, with uniform type 1 fiber(LB);Central core disease(LB);not specified(LB);RYR1-Related Disorders(B);Malignant hypothermia(US)" 2/16/2018 -21.27 0.857142857 BLB 3 159856 Simple 200563280 T . CI 1 10 "Minicore myopathy(P);Malignant hyperthermia, susceptibility to, 1(P);Minicore myopathy(P);Malignant hyperthermia, susceptibility to, 1(P);not provided(P);Central core disease(P);not provided(P);RYR1-Related Disorders(P);Central core disease(P);not provided(P)" 12/14/2017 50.4 2.5 P 3 159870 Simple 3744824 T . CI 1 3 Schinzel-Giedion syndrome(US);Schinzel-Giedion syndrome(LB);not specified(B) 3/29/2017 -9.18 2.333333333 BLB 3 159887 Simple 34098566 A . CI 1 3 not specified(B);Andermann syndrome(US);not specified(B) 7/18/2016 -9.9 2.333333333 BLB 3 159942 Simple 377270943 G . CI 1 3 Congenital muscular hypertrophy-cerebral syndrome(US);not specified(B);Congenital muscular hypertrophy-cerebral syndrome(B) 1/4/2018 -11.61 2 BLB 3 159975 Simple 76625999 C . CI 1 4 Cornelia de Lange syndrome 3(US);not specified(LB);Cornelia de Lange Syndrome(LB);Cornelia de Lange syndrome 3(B) 9/12/2017 -11.58 2.25 BLB 3 159980 Simple 146433240 G . CI 1 4 Cornelia de Lange syndrome 3(US);not specified(B);Cornelia de Lange Syndrome(LB);not specified(LB) 11/20/2017 -10.98 2.25 BLB 3 160020 Simple 142830725 G . CI 1 4 "not specified(B);Early infantile epileptic encephalopathy(LB);Early Infantile Epileptic Encephalopathy, Autosomal Dominant(US);not specified(B)" 6/14/2016 -11.4 2.75 BLB 3 160022 Simple 72758823 A . CI 1 3 Early infantile epileptic encephalopathy 5(US);not specified(LB);Early infantile epileptic encephalopathy(B) 8/24/2017 -9.18 2 BLB 3 160032 Simple 149628651 T . CI 1 3 Floating-Harbor syndrome(US);not specified(B);Floating-Harbor syndrome(LB) 7/13/2016 -9.18 2.333333333 BLB 3 160052 Simple 139912214 G . CI 1 5 not specified(LB);not specified(LB);Inborn genetic diseases(LB);not specified(B);not provided(LB) 2/2/2018 -16.5 1.8 BLB 3 160063 Simple 142315727 C . CI 1 4 "not specified(B);not specified(B);Primary Microcephaly, Recessive(US);not specified(B)" 7/25/2017 -14.1 2.5 BLB 3 160241 Simple 4148327 C . CI 1 4 Hyperbilirubinemia(US);Lucey-Driscoll syndrome(LB);Gilbert's syndrome(LB);Crigler-Najjar syndrome(LB) 6/14/2016 -9.18 2 BLB 3 160295 Simple 61743589 A . CI 1 3 not specified(B);Primary Microcephaly 2 With or Without Cortical Malformations(US);not specified(B) 12/20/2016 -9.9 2.333333333 BLB 3 160298 Simple 17851503 A . CI 1 3 not specified(B);Primary Microcephaly 2 With or Without Cortical Malformations(US);Primary autosomal recessive microcephaly 2(B) 6/5/2017 -9.9 2 BLB 3 160308 Simple 12327568 G . CI 1 5 not specified(B);Primary Microcephaly 2 With or Without Cortical Malformations(US);not provided(LB);not specified(LB);not specified(LB) 9/7/2017 -12.9 1.6 BLB 3 160331 Simple 149882004 T . CI 1 5 Mowat-Wilson syndrome(US);Mowat-Wilson syndrome(LB);not specified(LB);not specified(US);Mowat-Wilson syndrome(B) 11/29/2017 -12.24 1.4 BLB 3 161201 Simple 139142865 T . CI 1 5 not specified(US);not specified(LB);Hereditary hemorrhagic telangiectasia type 2(LB);not specified(B);Hereditary hemorrhagic telangiectasia type 2(B) 11/14/2017 -16.14 2 BLB 3 161206 Simple 147394539 T . CI 1 4 not specified(LB);Familial adenomatous polyposis 1(B);Familial adenomatous polyposis 1(US);Hereditary cancer-predisposing syndrome(LB) 1/12/2018 -12.27 0.5 BLB 3 161208 Simple 145910245 A . CI 1 5 not specified(LB);Malignant hyperthermia susceptibility(LB);not specified(US);Hypokalemic periodic paralysis 1(LB);Malignant hyperthermia susceptibility type 5(LB);not provided(US) 2/26/2018 -9.57 0.8 BLB 3 161210 Simple 150528041 T . CI 1 5 not specified(LB);not provided(LB);Brugada syndrome 4(LB);not specified(US);Cardiovascular phenotype(US) 2/14/2018 -8.67 1.2 BLB 3 161211 Simple 149253719 C . CI 1 5 not specified(LB);not provided(LB);Brugada syndrome 4(LB);not specified(US);Cardiovascular phenotype(LB) 1/9/2018 -11.37 1.4 BLB 3 161212 Simple 143326262 T . CI 1 6 not specified(LB);not provided(LB);Brugada syndrome 4(LB);Cardiovascular phenotype(LB);not specified(US);Brugada syndrome 4(LB) 2/13/2018 -14.37 1 BLB 3 161213 Simple 144182966 A . CI 1 6 Brugada syndrome(US);not specified(LB);not provided(LB);Brugada syndrome 4(LB);not specified(US);Cardiovascular phenotype(US) 8/11/2017 -8.91 1.666666667 BLB 3 161216 Simple 111391222 T . CI 1 6 "Aortic aneurysm(US);not specified(B);Cardiovascular phenotype(B);Ehlers-Danlos syndrome, type 4(LB);Ehlers-Danlos syndrome, type 4(US);Ehlers-Danlos syndrome, type 4(LB)" 2/22/2018 -17.88 1.5 BLB 3 161217 Simple 142085247 T . CI 1 3 "not specified(LB);Ehlers-Danlos syndrome, type 4(LB);not provided(LB)" 11/6/2017 -9 0.666666667 BLB 3 161218 Simple 111840783 G . CI 1 6 "not specified(LB);Cardiovascular phenotype(LB);Ehlers-Danlos syndrome, type 4(LB);not specified(US);Ehlers-Danlos syndrome, type 4(LB);not provided(LB)" 11/30/2017 -15.3 0.666666667 BLB 3 161221 Simple 189143447 T . CI 1 4 not provided(LB);Becker muscular dystrophy(US);Duchenne muscular dystrophy(B);not specified(B) 12/22/2017 -14.37 1.75 BLB 3 161225 Simple 377715841 A . CI 1 6 "not specified(US);Ectodermal dysplasia skin fragility syndrome(LB);Cardiomyopathy, ARVC(LB);Epidermolysis bullosa, lethal acantholytic(LB);Skin fragility woolly hair syndrome(LB);Dilated cardiomyopathy with woolly hair and keratoderma(US);Arrhythmogenic right ventricular cardiomyopathy, type 8(US)" 10/14/2017 -12.51 1.333333333 BLB 3 161226 Simple 148147581 A . CI 1 10 "not specified(LB);not specified(US);Epidermolysis bullosa, lethal acantholytic(LB);Cardiomyopathy, ARVC(LB);Ectodermal dysplasia skin fragility syndrome(LB);Skin fragility woolly hair syndrome(LB);Dilated cardiomyopathy with woolly hair and keratoderma(US);Arrhythmogenic right ventricular cardiomyopathy, type 8(US);Dilated cardiomyopathy with woolly hair and keratoderma(US);Arrhythmogenic right ventricular cardiomyopathy, type 8(US);Epidermolysis bullosa, lethal acantholytic(US);Skin fragility woolly hair syndrome(US);Keratosis palmoplantaris striata II(US);Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis(US);Cardiovascular phenotype(US);Palmoplantar blistering(US);Skin fragility with non-scarring blistering(US)" 12/12/2017 -16.5 0.6 BLB 3 161231 Simple 116330805 T . CI 1 5 not specified(B);Juvenile Polyposis(LB);Osler hemorrhagic telangiectasia syndrome(LB);Osler hemorrhagic telangiectasia syndrome(B);not specified(B) 12/21/2017 -24 0.8 BLB 3 161232 Simple 139398993 A . CI 1 5 Haemorrhagic telangiectasia 1(US);not specified(B);Osler hemorrhagic telangiectasia syndrome(LB);Osler hemorrhagic telangiectasia syndrome(B);not specified(LB) 12/25/2017 -17.01 1.8 BLB 3 161244 Simple 146726731 T . CI 1 13 not specified(US);Stiff skin syndrome(LB);Acromicric dysplasia(LB);Marfan syndrome(LB);Thoracic aortic aneurysm and aortic dissection(LB);Geleophysic dysplasia(LB);Weill-Marchesani syndrome(LB);MASS syndrome(LB);Ectopia lentis(LB);Marfan syndrome(US);Thoracic aortic aneurysm and aortic dissection(US);not specified(US);not provided(LB);Cardiovascular phenotype(US) 11/19/2017 -28.2 0.846153846 B 3 161259 Simple 115585711 A . CI 1 3 Piebaldism(US);Gastrointestinal stroma tumor(B);not provided(LB) 1/10/2018 -9.21 1.333333333 BLB 3 161263 Simple 72658860 A . CI 1 8 Familial hypercholesterolemia(LP);Familial hypercholesterolemia(B);not specified(LB);Familial hypercholesterolemia(B);Familial hypercholesterolemia(P);Familial hypercholesterolemia(US);not provided(LB);Familial hypercholesterolemia(US) 10/5/2017 -9.84 1.25 BLB 3 161267 Simple 146200173 G . CI 1 7 Familial hypercholesterolemia(LP);not provided(P);Familial hypercholesterolemia(US);Familial hypercholesterolemia(US);Familial hypercholesterolemia(LP);Familial hypercholesterolemias(P);Familial hypercholesterolemia(US) 6/3/2017 16.26 1.428571429 P 3 161268 Simple 368657165 A . CI 1 7 Familial hypercholesterolemia(LP);Familial hypercholesterolemia(LP);Familial hypercholesterolemia(LP);Familial hypercholesterolemia(US);Familial hypercholesterolemia(P);Familial hypercholesterolemia(LP);Familial hypercholesterolemia(LP) 3/30/2017 19.2 1.714285714 P 3 161272 Simple 147509697 A . CI 1 9 Hypercholesterolaemia(US);Familial hypercholesterolemia(US);Familial hypercholesterolemia(LB);Familial hypercholesterolemia(US);Familial hypercholesterolemia(B);Familial hypercholesterolemia(LB);Familial hypercholesterolemia(US);not provided(LB);not specified(LB) 11/30/2017 -18.72 1.555555556 BLB 3 161274 Simple 139361635 A . CI 1 7 not specified(US);not specified(US);Familial hypercholesterolemia(LB);Familial hypercholesterolemia(B);Familial hypercholesterolemia(US);Hypercholesterolaemia(US);Familial hypercholesterolemia(B) 11/22/2017 -15.72 1.857142857 BLB 3 161277 Simple 144614838 A . CI 1 8 Familial hypercholesterolemia(LP);Familial hypercholesterolemia(US);Familial hypercholesterolemia(US);Familial hypercholesterolemia(LP);Familial hypercholesterolemia(P);Familial hypercholesterolemia(US);Familial hypercholesterolemia(LP);Familial hypercholesterolemia(US) 3/30/2017 13.29 1.625 PLP 3 161279 Simple 143992984 A . CI 1 10 Familial hypercholesterolemia(LB);Familial hypercholesterolemia(LB);Familial hypercholesterolemia(LB);Familial hypercholesterolemia(LB);Familial hypercholesterolemia(LP);Familial hypercholesterolemia(LB);Familial hypercholesterolemia(LB);not provided(B);Familial hypercholesterolemia(LB);Familial hypercholesterolemia(LB) 10/17/2017 -24.6 1.6 BLB 3 161284 Simple 139624145 A . CI 1 7 Familial hypercholesterolemia(LP);not provided(P);Familial hypercholesterolemia(LP);Familial hypercholesterolemia(P);Familial hypercholesterolemia(P);Familial hypercholesterolemia(LP);Familial hypercholesterolemia(LP) 3/30/2017 29.1 1.428571429 P 3 161285 Simple 373646964 A . CI 1 8 Familial hypercholesterolemia(LP);Familial hypercholesterolemia(US);Familial hypercholesterolemia(LP);Familial hypercholesterolemia(LP);Familial hypercholesterolemia(P);Familial hypercholesterolemia(US);Familial hypercholesterolemia(US);Familial hypercholesterolemias(P) 6/5/2017 19.89 1.375 P 3 161287 Simple 139043155 A . CI 1 10 Familial hypercholesterolemia(LP);Familial hypercholesterolemia(LP);Familial hypercholesterolemia(LP);Familial hypercholesterolemia(P);Familial hypercholesterolemia(P);Familial hypercholesterolemia(LP);Familial hypercholesterolemia(LP);Hypercholesterolaemia(US);not provided(P);Familial hypercholesterolemia(P) 12/29/2017 37.89 1.3 P 3 161290 Simple 373371572 T . CI 1 9 Familial hypercholesterolemia(LP);Familial hypercholesterolemia(LP);Familial hypercholesterolemia(P);Familial hypercholesterolemia(US);Familial hypercholesterolemia(US);not provided(LP);Familial hypercholesterolemias(P);Familial hypercholesterolemia(US);Familial hypercholesterolemia(LP) 10/24/2017 22.89 1.222222222 P 3 161303 Simple 200352299 T . CI 1 6 not specified(LB);not specified(LB);Hypertrophic cardiomyopathy(B);Left ventricular noncompaction 10(US);Familial hypertrophic cardiomyopathy 4(US);Cardiovascular phenotype(LB) 12/26/2017 -15.24 1.166666667 BLB 3 161311 Simple 193068692 A . CI 1 11 "Primary familial hypertrophic cardiomyopathy(US);not specified(LB);not specified(B);Hypertrophic cardiomyopathy(B);Hypertrophic cardiomyopathy(B);Dilated cardiomyopathy 1A(US);Dilated Cardiomyopathy, Dominant(LB);Hypertrophic cardiomyopathy(LB);Left ventricular noncompaction cardiomyopathy(LB);not specified(LB);Cardiovascular phenotype(B)" 4/5/2018 -37.95 1.636363636 B 3 161317 Simple 150759461 A . CI 1 7 "not specified(LB);Aortic aneurysm, familial thoracic 4(LB);Inborn genetic diseases(US);not specified(LB);not specified(LB);Aortic aneurysm, familial thoracic 4(LB);Aortic aneurysm, familial thoracic 4(LB)" 12/22/2017 -17.64 1.285714286 BLB 3 161319 Simple 111404182 A . CI 1 5 "Aortic aneurysm, familial thoracic 4(US);not specified(LB);Cardiovascular phenotype(US);Aortic aneurysm, familial thoracic 4(LB);not provided(LB)" 2/9/2018 -9.57 0.6 BLB 3 161346 Simple 41267007 T . CI 1 3 "Protein S deficiency(US);Protein S deficiency(LB);Thrombophilia due to protein S deficiency, autosomal recessive(B)" 1/2/2018 -9.21 1.666666667 BLB 3 161364 Simple 146504767 A . CI 1 11 "Malignant hyperthermia, susceptibility to, 1(LB);Malignant hyperthermia(LB);not specified(US);Neuromuscular disease, congenital, with uniform type 1 fiber(LB);Multiminicore Disease(LB);Central core disease(LB);Malignant hyperthermia susceptibility(LB);not specified(LB);not specified(US);not specified(LB);RYR1-Related Disorders(LB)" 2/22/2018 -26.07 1.363636364 BLB 3 161365 Simple 200950673 G . CI 1 8 "not specified(US);not specified(US);Neuromuscular disease, congenital, with uniform type 1 fiber(LB);Malignant hyperthermia susceptibility(LB);Central core disease(LB);Multiminicore Disease(LB);not specified(US);RYR1-Related Disorders(LB)" 3/16/2017 -15.87 1.125 BLB 3 161366 Simple 139647387 G . CI 1 5 "Malignant hypothermia(US);Malignant hyperthermia susceptibility(LB);Multiminicore Disease(LB);Neuromuscular disease, congenital, with uniform type 1 fiber(LB);Central core disease(LB)" 6/14/2016 -12.24 1.4 BLB 3 161394 Simple 112215250 A . CI 1 10 not specified(US);not specified(B);Loeys-Dietz syndrome(LB);Cardiovascular phenotype(B);Marfan syndrome(LB);Thoracic aortic aneurysm and aortic dissection(LB);Loeys-Dietz syndrome(LB);Thoracic aortic aneurysm and aortic dissection(B);not provided(B);not specified(B) 12/29/2017 -41.4 1 B 3 161396 Simple 368861241 A . CI 1 5 Primary familial hypertrophic cardiomyopathy(LP);not provided(P);Primary familial hypertrophic cardiomyopathy(LP);Hypertrophic cardiomyopathy(LP);not provided(US) 11/18/2017 13.8 1.2 PLP 3 161399 Simple 145470784 A . CI 1 3 not specified(LB);Tuberous sclerosis 2(B);Hereditary cancer-predisposing syndrome(US) 3/6/2018 -9.3 0.333333333 BLB 3 161516 Simple 193920774 T . CI 1 2 not provided(LP);Hereditary cancer-predisposing syndrome(P) 10/7/2016 9 1 PLP 3 161990 Simple 561097415 T . CI 1 2 Hereditary pancreatitis(LB);not provided(B) 7/24/2017 -9 0.5 BLB 3 162048 Simple 556445621 A . CI 1 4 Mitochondrial DNA depletion syndrome(LB);Autosomal recessive cerebellar ataxia(LB);Ataxia Neuropathy Spectrum Disorders(LB);Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions(LB) 6/14/2016 -12 1 BLB 3 162378 Simple 150418024 G . CI 1 2 not specified(B);Ceroid lipofuscinosis neuronal 7(B) 3/8/2018 -12 0 BLB 3 162526 Simple 62215499 A . CI 1 5 not specified(LB);not specified(B);Collagen VI-related myopathy(LB);not provided(LB);Bethlem myopathy 1(LB) 1/15/2018 -16.2 1.2 BLB 3 162529 Simple 140534207 G . CI 1 4 not specified(US);not specified(B);Collagen VI-related myopathy(LB);Bethlem myopathy 1(LB) 11/17/2017 -12.27 1 BLB 3 162563 Simple 727502845 - . CI 1 4 "not specified(B);Dilated Cardiomyopathy, Recessive(US);Fukuyama congenital muscular dystrophy(US);not specified(B)" 2/19/2018 -10.8 1.5 BLB 3 162568 Simple 116105846 T . CI 1 6 not specified(B);Walker-Warburg congenital muscular dystrophy(B);Cardiovascular phenotype(LB);not specified(B);not specified(LB);not specified(US) 12/11/2017 -23.4 1 BLB 3 162586 Simple 146097254 A . CI 1 6 "Congenital Muscular Dystrophy, alpha-dystroglycan related(US);Limb-Girdle Muscular Dystrophy, Recessive(US);not specified(LB);Limb-girdle muscular dystrophy-dystroglycanopathy, type C3(B);Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3(B);not specified(LB);not specified(B)" 1/3/2018 -18 0.666666667 BLB 3 162688 Simple 141281214 T . CI 1 5 not specified(US);not provided(LB);not specified(LB);Dilated cardiomyopathy 1O(B);Cardiovascular phenotype(US) 12/26/2017 -11.64 1.6 BLB 3 162724 Simple 368367224 A . CI 1 6 "not specified(LB);Hypertrophic cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);not specified(B);Cardiovascular phenotype(LB);Dilated cardiomyopathy 1AA(B);Primary familial hypertrophic cardiomyopathy(B)" 11/6/2017 -17.1 1.5 BLB 3 162774 Simple 141355480 T . CI 1 4 "not specified(LB);not specified(LB);Myofibrillar myopathy, BAG3-related(US);Dilated cardiomyopathy 1HH(US);not specified(B)" 8/24/2017 -11.4 1.5 BLB 3 162933 Simple 369946986 A . CI 1 5 "not specified(LB);not specified(B);Retinitis pigmentosa-deafness syndrome(US);CDH23-Related Disorders(US);Nonsyndromic Hearing Loss, Recessive(US)" 6/14/2016 -8.4 1.8 BLB 3 163082 Simple 112051327 C . CI 1 3 not specified(B);Ciliary dyskinesia(B);Ciliary dyskinesia(US) 1/8/2018 -9.9 2 BLB 3 163116 Simple 35865357 A . CI 1 3 not specified(B);Ciliary dyskinesia(B);Ciliary dyskinesia(US) 8/3/2017 -9.9 2 BLB 3 163117 Simple 72657373 G . CI 1 3 not specified(B);Ciliary dyskinesia(B);Ciliary dyskinesia(US) 11/27/2017 -11.7 1 BLB 3 163118 Simple 72657389 T . CI 1 3 not specified(LB);Ciliary dyskinesia(B);not specified(US) 12/27/2017 -9 0.666666667 BLB 3 163193 Simple 138749562 C . CI 1 5 "not specified(US);not specified(US);not specified(LB);Arrhythmogenic right ventricular cardiomyopathy, type 11(LB);not specified(LB)" 12/14/2017 -9.51 1.2 BLB 3 163235 Simple 727502997 T . CI 1 6 "not specified(LB);Epidermolysis bullosa, lethal acantholytic(US);Skin fragility woolly hair syndrome(US);Ectodermal dysplasia skin fragility syndrome(US);Cardiomyopathy, ARVC(US);not provided(B)" 2/13/2017 -9.6 1.333333333 BLB 3 163236 Simple 188516326 G . CI 1 7 "Epidermolysis bullosa, lethal acantholytic(LB);Cardiomyopathy, ARVC(LB);Skin fragility woolly hair syndrome(LB);Ectodermal dysplasia skin fragility syndrome(LB);Dilated cardiomyopathy with woolly hair and keratoderma(B);Arrhythmogenic right ventricular cardiomyopathy, type 8(B);not specified(US);not specified(US)" 9/27/2017 -18.54 1.142857143 BLB 3 163266 Simple 535202724 T . CI 1 7 "not specified(US);Epidermolysis bullosa, lethal acantholytic(LB);Skin fragility woolly hair syndrome(LB);Cardiomyopathy, ARVC(LB);Ectodermal dysplasia skin fragility syndrome(LB);Cardiovascular phenotype(LB);Dilated cardiomyopathy with woolly hair and keratoderma(LB);Arrhythmogenic right ventricular cardiomyopathy, type 8(LB)" 10/23/2017 -18.21 1.285714286 BLB 3 163287 Simple 116888866 A . CI 1 11 "Dysplasia, arrhythmogenic right ventricular(B);not specified(LB);Arrhythmogenic right ventricular cardiomyopathy, type 8(US);Cardiovascular phenotype(B);Ectodermal dysplasia skin fragility syndrome(LB);Skin fragility woolly hair syndrome(LB);Cardiomyopathy, ARVC(LB);Epidermolysis bullosa, lethal acantholytic(LB);Dilated cardiomyopathy with woolly hair and keratoderma(B);Arrhythmogenic right ventricular cardiomyopathy, type 8(B);not provided(LB);not specified(B)" 11/27/2017 -39.87 1.363636364 B 3 163289 Simple 201397978 C . CI 1 9 "not specified(US);not provided(LB);not specified(B);Cardiomyopathy, ARVC(LB);Skin fragility woolly hair syndrome(LB);Epidermolysis bullosa, lethal acantholytic(LB);Ectodermal dysplasia skin fragility syndrome(LB);Dilated cardiomyopathy with woolly hair and keratoderma(B);Arrhythmogenic right ventricular cardiomyopathy, type 8(B);not provided(B)" 1/1/2018 -32.31 1.333333333 B 3 163303 Simple 191746041 T . CI 1 5 not specified(US);not specified(US);not specified(LB);Dysferlinopathy(B);not specified(LB) 1/3/2018 -12.18 1.6 BLB 3 163420 Simple 79273904 A . CI 1 3 "not specified(B);Nonsyndromic Hearing Loss, Recessive(US);not specified(LB)" 8/9/2017 -8.7 1 BLB 3 163424 Simple 201726554 T . CI 1 3 "not specified(B);Nonsyndromic Hearing Loss, Recessive(US);not specified(B)" 4/10/2017 -11.7 1.333333333 BLB 3 163547 Simple 149391489 C . CI 1 5 not specified(LB);not specified(LB);Fabry disease(US);Fabry disease(US);Cardiovascular phenotype(LB) 2/9/2018 -9.57 0.4 BLB 3 163598 Simple 113498662 C . CI 1 4 not specified(LB);not specified(LB);not specified(US);not specified(LB) 5/30/2017 -8.4 1.75 BLB 3 163884 Simple 148468627 T . CI 1 3 "not specified(B);Nonsyndromic Hearing Loss, Recessive(US);not specified(B)" 12/12/2017 -12.3 0.666666667 BLB 3 163897 Simple 528236655 A . CI 1 4 "not specified(B);not specified(US);Nonsyndromic Hearing Loss, Recessive(US);not specified(LB)" 1/30/2018 -9.54 1.25 BLB 3 163929 Simple 143142227 T . CI 1 3 "not specified(B);not specified(LB);Nonsyndromic Hearing Loss, Recessive(US)" 8/12/2016 -9.3 1 BLB 3 163938 Simple 116413527 T . CI 1 3 not specified(B);not specified(US);not specified(LB) 12/14/2017 -9.27 0.666666667 BLB 3 164098 Simple 727503195 T . CI 1 6 not specified(US);not provided(LP);Primary familial hypertrophic cardiomyopathy(LP);Cardiovascular phenotype(LP);Hypertrophic cardiomyopathy(P);Hypertrophic cardiomyopathy(P) 12/6/2017 20.13 1.166666667 P 3 164109 Simple 397515912 T . CI 1 6 not specified(US);not provided(LP);Primary familial hypertrophic cardiomyopathy(LP);Cardiovascular phenotype(US);not provided(LP);Hypertrophic cardiomyopathy(LP) 1/3/2018 10.2 1.166666667 PLP 3 164258 Simple 150574114 T . CI 1 8 "not specified(B);not specified(B);Familial hypertrophic cardiomyopathy 14(B);Cardiovascular phenotype(B);Dilated Cardiomyopathy, Dominant(US);Hypertrophic cardiomyopathy(US);Atrial septal defect(US);not specified(B)" 1/4/2018 -25.5 2 BLB 3 164259 Simple 141014719 T . CI 1 7 "not specified(B);Familial hypertrophic cardiomyopathy 14(B);Cardiovascular phenotype(B);Hypertrophic cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Atrial septal defect(US);not specified(B)" 1/4/2018 -20.7 1.857142857 BLB 3 164261 Simple 183611755 T . CI 1 6 "not specified(B);Cardiovascular phenotype(B);Atrial septal defect(US);Dilated Cardiomyopathy, Dominant(US);Hypertrophic cardiomyopathy(US);not specified(B)" 11/21/2016 -15.3 2 BLB 3 164304 Simple 192722540 A . CI 1 10 "not specified(US);Myopathy, distal, 1(LB);Left ventricular noncompaction cardiomyopathy(LB);Hypertrophic cardiomyopathy(LB);Myosin storage myopathy(LB);Dilated Cardiomyopathy, Dominant(LB);Scapuloperoneal myopathy(LB);not specified(US);Hypertrophic cardiomyopathy(US);Primary familial hypertrophic cardiomyopathy(US)" 6/2/2017 -19.14 1.1 BLB 3 164350 Simple 727503263 A . CI 1 4 not specified(US);not specified(US);Hypertrophic cardiomyopathy(P);Cardiovascular phenotype(LP) 9/15/2017 8.49 1.5 PLP 3 164435 Simple 139134727 A . CI 1 5 "not specified(B);not specified(US);MYH9-related disorder(LB);Nonsyndromic Hearing Loss, Dominant(LB);not specified(US)" 3/8/2017 -9.6 2 BLB 3 164439 Simple 34292387 T . CI 1 5 "not specified(US);not specified(US);Nonsyndromic Hearing Loss, Dominant(LB);MYH9-related disorder(LB);not specified(LB)" 12/22/2017 -9.45 1.8 BLB 3 164442 Simple 200901330 G . CI 1 4 "not specified(LB);MYH9-related disorder(LB);Nonsyndromic Hearing Loss, Dominant(LB);not specified(US)" 7/28/2017 -9.3 0.75 BLB 3 164539 Simple 141475629 A . CI 1 4 "not specified(B);not specified(US);Nonsyndromic Hearing Loss, Recessive(US);not specified(LB)" 12/14/2017 -9.6 0.5 BLB 3 164555 Simple 140140417 A . CI 1 3 "not specified(B);Nonsyndromic Hearing Loss, Recessive(US);not specified(LB)" 1/12/2018 -8.7 1 BLB 3 164558 Simple 200583193 T . CI 1 3 "not specified(B);Nonsyndromic Hearing Loss, Recessive(US);not specified(LB)" 9/28/2017 -9.3 0.666666667 BLB 3 164565 Simple 115393178 A . CI 1 3 "not specified(B);Nonsyndromic Hearing Loss, Recessive(US);not specified(B)" 11/15/2017 -9.3 2.333333333 BLB 3 164566 Simple 147458358 G . CI 1 4 "not specified(B);not specified(B);Nonsyndromic Hearing Loss, Recessive(US);not specified(LB)" 10/5/2017 -12.3 2 BLB 3 164619 Simple 56147819 A . CI 1 3 "not specified(B);Nonsyndromic Hearing Loss, Recessive(US);not specified(LB)" 12/11/2017 -8.7 1 BLB 3 164629 Simple 34615182 G . CI 1 3 "not specified(B);Nonsyndromic Hearing Loss, Recessive(US);not specified(B)" 1/12/2018 -9.3 2.333333333 BLB 3 164771 Simple 368268112 C . CI 1 4 not specified(LB);not specified(LB);Primary dilated cardiomyopathy(LB);Cardiovascular phenotype(US) 2/12/2018 -8.91 1.75 BLB 3 164963 Simple 143900944 C . CI 1 4 "not specified(LB);not provided(US);not specified(LB);Arrhythmogenic right ventricular cardiomyopathy, type 9(LB)" 11/8/2017 -8.91 1.75 BLB 3 165059 Simple 41289942 A . CI 1 3 not specified(B);Ciliary dyskinesia(B);Ciliary dyskinesia(US) 8/12/2017 -9.9 2 BLB 3 165111 Simple 116442127 T . CI 1 6 "not specified(B);Catecholaminergic polymorphic ventricular tachycardia(B);Cardiomyopathy, ARVC(US);Catecholaminergic polymorphic ventricular tachycardia(US);not provided(B);Cardiovascular phenotype(B)" 1/2/2018 -21 1.833333333 BLB 3 165135 Simple 45437099 A . CI 1 10 "not specified(LB);not specified(B);Long QT syndrome(US);Progressive familial heart block(US);Dilated Cardiomyopathy, Dominant(US);Sick sinus syndrome(US);Paroxysmal familial ventricular fibrillation(US);Romano-Ward syndrome(US);Brugada syndrome(US);Brugada syndrome(B)" 12/29/2017 -15.3 1.3 BLB 3 165155 Simple 41313693 T . CI 1 10 "not specified(B);Brugada syndrome(B);Paroxysmal familial ventricular fibrillation(US);Long QT syndrome(US);Romano-Ward syndrome(US);Progressive familial heart block(US);Brugada syndrome(US);Sick sinus syndrome(US);Dilated Cardiomyopathy, Dominant(US);Cardiovascular phenotype(B)" 1/2/2018 -17.1 1.4 BLB 3 165156 Simple 41313703 G . CI 1 10 "not specified(B);Brugada syndrome(B);Long QT syndrome(US);Brugada syndrome(US);Dilated Cardiomyopathy, Dominant(US);Sick sinus syndrome(US);Romano-Ward syndrome(US);Paroxysmal familial ventricular fibrillation(US);Progressive familial heart block(US);Cardiovascular phenotype(B)" 1/2/2018 -17.1 1.4 BLB 3 165272 Simple 141952919 G . CI 1 5 "not specified(B);Nonsyndromic Hearing Loss, Recessive(US);not specified(B);not specified(LB);not specified(LB)" 12/4/2017 -14.7 2 BLB 3 165381 Simple 11466445 - . CI 1 14 Cardiovascular phenotype(B);Thoracic aortic aneurysm and aortic dissection(B);Loeys-Dietz syndrome 1(B);Thoracic aortic aneurysm and aortic dissection(B);Loeys-Dietz syndrome(B);Loeys-Dietz syndrome 1(US);not specified(B);not specified(B);not specified(B);not specified(B);not specified(B);not specified(B);Loeys-Dietz syndrome(LB);Thoracic aortic aneurysm and aortic dissection(B) 1/23/2018 -68.07 1.928571429 B 3 165587 Simple 34066624 A . CI 1 4 not specified(B);not specified(US);not provided(LB);not specified(LB) 12/6/2017 -9.27 2.25 BLB 3 165614 Simple 138139146 A . CI 1 4 not specified(B);not specified(B);not specified(LB);not specified(US) 9/15/2017 -10.8 2.75 BLB 3 165715 Simple 373871146 A . CI 1 11 "not specified(LB);not specified(B);Cardiovascular phenotype(LB);not specified(LB);Myopathy, early-onset, with fatal cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Distal myopathy Markesbery-Griggs type(US);Hypertrophic cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Hereditary myopathy with early respiratory failure(US);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B)" 12/18/2017 -21.3 1.181818182 BLB 3 165799 Simple 199670463 T . CI 1 10 "not specified(LB);not specified(LB);not specified(LB);Hypertrophic cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Hereditary myopathy with early respiratory failure(US);Distal myopathy Markesbery-Griggs type(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B)" 12/20/2017 -15.9 1.1 BLB 3 165813 Simple 201562505 C . CI 1 13 "not specified(LB);not specified(B);not specified(US);not specified(US);not specified(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Distal myopathy Markesbery-Griggs type(US);Hypertrophic cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Hereditary myopathy with early respiratory failure(US);Dilated Cardiomyopathy, Dominant(US);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);Cardiovascular phenotype(B)" 12/20/2017 -20.28 1.153846154 BLB 3 165819 Simple 140942979 T . CI 1 4 "not specified(LB);not specified(LB);not specified(US);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B)" 8/22/2017 -10.14 3 BLB 3 165840 Simple 543318580 - . CI 1 4 "not specified(LB);not specified(US);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);not specified(LB)" 1/6/2018 -8.97 1 BLB 3 165881 Simple 563233842 A . CI 1 4 "not specified(LB);not provided(US);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);not specified(LB)" 12/13/2017 -8.61 1.75 BLB 3 165912 Simple 184863287 G . CI 1 5 "not specified(LB);Cardiovascular phenotype(LB);not specified(US);not specified(B);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB)" 11/17/2017 -12.87 2.2 BLB 3 165925 Simple 6706088 G . CI 1 10 "not specified(B);not specified(LB);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Cardiovascular phenotype(LB);Dilated Cardiomyopathy, Dominant(US);Hypertrophic cardiomyopathy(US);Distal myopathy Markesbery-Griggs type(US);Hereditary myopathy with early respiratory failure(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Myopathy, early-onset, with fatal cardiomyopathy(US)" 1/4/2018 -15 2 BLB 3 165946 Simple 201505306 T . CI 1 12 "not specified(LB);not provided(US);not specified(US);Dilated Cardiomyopathy, Dominant(US);Hereditary myopathy with early respiratory failure(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Hypertrophic cardiomyopathy(US);Distal myopathy Markesbery-Griggs type(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);not specified(LB);Cardiovascular phenotype(US)" 7/27/2017 -10.98 1.333333333 BLB 3 165976 Simple 372686070 C . CI 1 4 not specified(LB);not specified(US);not specified(B);Cardiovascular phenotype(LB) 5/1/2017 -10.77 2.5 BLB 3 166002 Simple 372635204 A . CI 1 10 "not specified(LB);not specified(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Hereditary myopathy with early respiratory failure(US);Distal myopathy Markesbery-Griggs type(US);Hypertrophic cardiomyopathy(US);not specified(B);not specified(B)" 6/5/2017 -15.54 1.5 BLB 3 166080 Simple 148140756 A . CI 1 5 "not specified(LB);not provided(LB);not specified(LB);not specified(US);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB)" 3/1/2018 -10.8 1.4 BLB 3 166100 Simple 368781863 A . CI 1 4 "not specified(LB);not specified(LB);not specified(LB);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB)" 2/27/2018 -11.1 1.25 BLB 3 166119 Simple 368973334 A . CI 1 4 "not specified(LB);not specified(US);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);not specified(LB)" 7/7/2017 -8.4 1.5 BLB 3 166133 Simple 202160275 T . CI 1 13 "not specified(LB);not provided(US);not specified(LB);Cardiovascular phenotype(US);Dilated Cardiomyopathy, Dominant(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);Hypertrophic cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Distal myopathy Markesbery-Griggs type(US);not specified(LB);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);not specified(US)" 8/7/2017 -13.89 1.538461538 BLB 3 166151 Simple 201571580 A . CI 1 6 "not specified(US);not provided(LB);not specified(LB);Cardiovascular phenotype(LB);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);not specified(US)" 12/6/2017 -10.71 2.333333333 BLB 3 166152 Simple 200103997 T . CI 1 12 "not specified(LB);not provided(US);not specified(LB);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);not specified(US);Distal myopathy Markesbery-Griggs type(US);Dilated Cardiomyopathy, Dominant(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);Hypertrophic cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);not specified(US)" 12/6/2017 -10.95 1.5 BLB 3 166228 Simple 34706803 C . CI 1 5 not specified(US);not specified(B);not specified(B);not specified(B);Cardiovascular phenotype(B) 2/22/2018 -22.44 1.6 BLB 3 166306 Simple 374620001 A . CI 1 12 "not specified(LB);not specified(B);not specified(LB);Hereditary myopathy with early respiratory failure(US);Distal myopathy Markesbery-Griggs type(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Dilated Cardiomyopathy, Dominant(US);Hypertrophic cardiomyopathy(US);Myopathy, early-onset, with fatal cardiomyopathy(US);not specified(US);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B)" 8/16/2017 -24.57 1.25 BLB 3 166356 Simple 148094198 A . CI 1 10 "not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Limb-Girdle Muscular Dystrophy, Recessive(US);Hypertrophic cardiomyopathy(US);Distal myopathy Markesbery-Griggs type(US);Hereditary myopathy with early respiratory failure(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);not specified(B);not specified(LB)" 12/29/2017 -19.2 1.5 BLB 3 166434 Simple 199605265 T . CI 1 4 "not specified(US);Retinitis pigmentosa 39(P);Usher syndrome, type 2A(P);not provided(LP)" 2/23/2017 12.36 2.5 PLP 3 166536 Simple 143702799 G . CI 1 4 "not specified(LB);Dilated cardiomyopathy 1W(B);Cardiovascular phenotype(B);Dilated Cardiomyopathy, Dominant(US)" 1/11/2018 -13.2 2.25 BLB 3 166616 Simple 113106943 T . CI 1 7 "not specified(US);Stargardt disease 1(LP);Cone-Rod Dystrophy, Recessive(LB);Retinitis Pigmentosa, Recessive(LB);Stargardt Disease, Recessive(LB);Macular degeneration(LB);not specified(US)" 1/5/2017 -9.9 1.142857143 BLB 3 166642 Simple 144996066 T . CI 1 5 not specified(B);Very long chain acyl-CoA dehydrogenase deficiency(US);not specified(B);not specified(B);Very long chain acyl-CoA dehydrogenase deficiency(B) 12/26/2017 -21.9 1.6 BLB 3 166675 Simple 180849348 G . CI 1 5 "not specified(B);Congenital disorder of glycosylation(US);not specified(B);not provided(LB);Congenital disorder of glycosylation type 1I(B);Myasthenic syndrome, congenital, 14(B)" 1/9/2018 -19.5 1.2 BLB 3 166676 Simple 79144888 A . CI 1 4 not specified(B);Congenital disorder of glycosylation(US);not specified(B);Congenital disorder of glycosylation type 1D(B) 2/19/2018 -16.5 1.5 BLB 3 166677 Simple 17825668 G . CI 1 4 not specified(B);not specified(B);Congenital disorder of glycosylation(US);Congenital disorder of glycosylation type 1H(B) 5/25/2017 -15.3 2.25 BLB 3 166702 Simple 139395045 A . CI 1 4 not specified(US);Duchenne muscular dystrophy(B);not specified(LB);Cardiovascular phenotype(LB) 12/6/2017 -11.97 1 BLB 3 166767 Simple 1051360 T . CI 1 5 not specified(US);Long QT syndrome(B);Cardiovascular phenotype(LB);Timothy syndrome(LB);Brugada syndrome(LB) 12/28/2017 -14.94 1.4 BLB 3 166769 Simple 186741807 T . CI 1 5 not specified(US);Brugada syndrome(LB);Timothy syndrome(LB);Long QT syndrome(B);not provided(B) 12/13/2017 -18.24 1 BLB 3 166793 Simple 28364543 C . CI 1 5 "Limb-Girdle Muscular Dystrophy, Recessive(US);Limb-girdle muscular dystrophy, type 2A(US);not specified(B);Limb-girdle muscular dystrophy, type 2A(B);not specified(B)" 1/4/2018 -16.8 1.4 BLB 3 166794 Simple 76106850 T . CI 1 3 "not specified(US);not specified(LB);Mental retardation, CASK-related, X-linked(B)" 9/18/2017 -9.21 1.666666667 BLB 3 166795 Simple 544979992 C . CI 1 4 "not specified(US);not specified(US);Mental retardation, CASK-related, X-linked(B);not specified(B)" 6/23/2017 -12.45 1.75 BLB 3 166802 Simple 371086728 T . CI 1 6 not specified(US);Meckel-Gruber syndrome(US);Joubert syndrome(US);CC2D2A-Related Disorders(US);Joubert syndrome(B);Meckel-Gruber syndrome(B);not specified(LB) 1/25/2018 -10.17 0.833333333 BLB 3 166863 Simple 201341211 A . CI 1 4 not specified(LB);not specified(LB);not specified(LB);Duchenne muscular dystrophy(B) 5/18/2017 -14.4 1.5 BLB 3 166869 Simple 528130317 G . CI 1 4 not specified(US);Hypogonadism with anosmia(LB);CHARGE association(LB);CHARGE association(B) 6/29/2017 -12.21 1.5 BLB 3 166877 Simple 727503869 - . CI 1 3 not specified(B);FG syndrome(US);Cardiovascular phenotype(B) 8/25/2017 -10.5 1.666666667 BLB 3 166900 Simple 150814269 T . CI 1 5 "Limb-Girdle Muscular Dystrophy, Recessive(US);not specified(LB);not provided(LB);Limb-girdle muscular dystrophy-dystroglycanopathy, type C1(B);Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1(B);Walker-Warburg congenital muscular dystrophy(B);not specified(B)" 3/1/2018 -16.5 1.2 BLB 3 166910 Simple 56356283 T . CI 1 5 not specified(LB);not specified(LB);Cortical dysplasia-focal epilepsy syndrome(B);Pitt-Hopkins-like syndrome(US);Cortical dysplasia-focal epilepsy syndrome(US) 12/27/2017 -12 1.2 BLB 3 166922 Simple 147637674 T . CI 1 5 "not specified(US);Fibrochondrogenesis(LB);Stickler Syndrome, Dominant(LB);Marshall syndrome(LB);not specified(LB)" 4/20/2017 -12.21 1.6 BLB 3 166926 Simple 35504014 A . CI 1 4 "not specified(B);Type II Collagenopathies(US);Stickler Syndrome, Dominant(US);not specified(B)" 11/18/2016 -12 1.25 BLB 3 166938 Simple 202092407 A . CI 1 5 not specified(LB);Inborn genetic diseases(US);Collagen VI-related myopathy(LB);not specified(LB);Bethlem myopathy 1(B) 11/22/2017 -14.61 1.8 BLB 3 166942 Simple 146355600 A . CI 1 4 not specified(US);Collagen VI-related myopathy(LB);Bethlem myopathy 1(LB);not specified(LB) 11/2/2017 -9.3 0.5 BLB 3 166946 Simple 113781746 A . CI 1 4 not specified(LB);Collagen VI-related myopathy(LB);not specified(LB);Bethlem myopathy 1(B) 12/13/2017 -14.1 1.25 BLB 3 166948 Simple 137910388 T . CI 1 3 not specified(US);Collagen VI-related myopathy(LB);Bethlem myopathy 1(B) 12/21/2017 -9.21 1.666666667 BLB 3 166986 Simple 75225632 A . CI 1 4 not specified(B);Smith-Lemli-Opitz syndrome(US);Smith-Lemli-Opitz syndrome(B);not provided(B) 1/5/2018 -16.5 1.5 BLB 3 166998 Simple 117064287 G . CI 1 3 not specified(B);Ciliary dyskinesia(B);Ciliary dyskinesia(US) 12/7/2017 -10.5 1.666666667 BLB 3 167000 Simple 150631721 T . CI 1 4 not specified(B);not specified(B);Ciliary dyskinesia(US);Ciliary dyskinesia(B) 11/29/2017 -14.1 2.5 BLB 3 167001 Simple 146362213 G . CI 1 4 not specified(B);not specified(B);Ciliary dyskinesia(US);Ciliary dyskinesia(B) 11/29/2017 -14.1 2.5 BLB 3 167038 Simple 150452237 C . CI 1 4 not specified(B);not specified(LB);Progressive myoclonic epilepsy(B);Microcephaly(US);Cataract(US);Severe global developmental delay(US) 10/25/2017 -13.2 1.75 BLB 3 167083 Simple 375444839 T . CI 1 4 not specified(US);Cerebral folate deficiency(US);not specified(LB);Cerebral folate deficiency(B) 3/7/2018 -9.51 1.25 BLB 3 167090 Simple 786200975 GCCGCC . CI 1 5 "not provided(US);not specified(LB);Rett syndrome, congenital variant(LB);not specified(LB);Rett syndrome, congenital variant(US)" 1/4/2018 -9.24 1.2 BLB 3 167092 Simple 727503935 A . CI 1 5 "not provided(LP);not provided(LP);Rett syndrome, congenital variant(LP);Rett syndrome, congenital variant(US);Rett syndrome, congenital variant(LP)" 3/30/2017 10.5 1.8 PLP 3 167131 Simple 200833152 G . CI 1 5 not specified(B);not specified(B);not specified(US);not provided(US);Cerebral creatine deficiency syndrome(B) 2/15/2018 -18.51 1.2 BLB 3 167170 Simple 373411041 T . CI 1 3 not specified(US);Brugada syndrome 8(B);Cardiovascular phenotype(LB) 12/29/2017 -8.91 2 BLB 3 167172 Simple 727503958 C . CI 1 4 not specified(US);Brugada syndrome 8(LB);Cardiovascular phenotype(LB);not specified(LB) 12/15/2017 -8.97 1 BLB 3 167208 Simple 727503974 A . CI 1 4 not specified(US);not provided(P);Early infantile epileptic encephalopathy 7(P);Early infantile epileptic encephalopathy(P) 11/13/2017 16.59 2 P 3 167240 Simple 142126511 T . CI 1 3 not specified(US);Laminin alpha 2-related dystrophy(B);not specified(LB) 11/19/2017 -9.21 1.666666667 BLB 3 167241 Simple 118147866 T . CI 1 5 "not specified(B);not provided(LB);Congenital Muscular Dystrophy, LAMA2-related(US);not specified(B);Laminin alpha 2-related dystrophy(B)" 11/15/2017 -19.2 1.6 BLB 3 167244 Simple 573779258 T . CI 1 5 "not specified(B);not specified(B);Congenital Muscular Dystrophy, LAMA2-related(US);not specified(LB);Laminin alpha 2-related dystrophy(B)" 12/28/2017 -21.3 0.8 BLB 3 167250 Simple 74550830 T . CI 1 7 "Walker-Warburg Syndrome(US);Congenital Muscular Dystrophy, alpha-dystroglycan related(US);not specified(LB);not specified(LB);not specified(LB);Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6(B);not specified(B)" 1/15/2018 -19.5 1.285714286 BLB 3 167253 Simple 145048151 A . CI 1 3 "not specified(US);Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6(B);not specified(LB)" 2/23/2018 -9.21 1.666666667 BLB 3 167268 Simple 34749281 T . CI 1 4 not specified(B);3-MCC Deficiency(US);3 Methylcrotonyl-CoA carboxylase 1 deficiency(B);not specified(B) 3/22/2017 -16.5 1.75 BLB 3 167303 Simple 74315394 A . CI 1 3 not specified(US);not provided(LB);Bardet-Biedl syndrome(B);McKusick Kaufman syndrome(B) 11/6/2017 -9.21 1.666666667 BLB 3 167340 Simple 114076205 A . CI 1 4 "not specified(B);Nemaline Myopathy, Recessive(US);not specified(B);Nemaline myopathy 2(B)" 12/18/2017 -15.9 1.75 BLB 3 167341 Simple 112958786 A . CI 1 4 "not specified(B);Nemaline Myopathy, Recessive(US);not specified(LB);Nemaline myopathy 2(B)" 8/17/2017 -13.5 1.5 BLB 3 167350 Simple 139029314 T . CI 1 4 not specified(US);not specified(LB);Lafora disease(B);not specified(US) 1/2/2018 -9.51 1.25 BLB 3 167369 Simple 192633696 G . CI 1 6 Renal-hepatic-pancreatic dysplasia(US);Meckel-Gruber syndrome(US);Nephronophthisis(US);not specified(B);Nephronophthisis(B);not specified(B) 7/28/2017 -16.5 1.5 BLB 3 167378 Simple 34391943 T . CI 1 7 not specified(B);not provided(LB);Nephronophthisis(B);Meckel-Gruber syndrome(US);Renal-hepatic-pancreatic dysplasia(US);Nephronophthisis(US);not specified(B) 11/8/2017 -19.5 1.571428571 BLB 3 167379 Simple 141477666 A . CI 1 3 not specified(LB);Nephronophthisis(B);not specified(US) 6/27/2017 -9 1 BLB 3 167389 Simple 144049982 C . CI 1 4 not specified(LB);not specified(LB);Pitt-Hopkins-like syndrome(US);Pitt-Hopkins-like syndrome 2(LB) 12/23/2017 -8.7 1 BLB 3 167475 Simple 148932323 A . CI 1 5 not specified(B);Autosomal recessive polycystic kidney disease(LB);Autosomal recessive polycystic kidney disease(B);not provided(LP);not specified(LB) 5/4/2017 -14.1 2.2 BLB 3 167484 Simple 140065359 A . CI 1 3 not specified(B);Autosomal recessive polycystic kidney disease(US);Autosomal recessive polycystic kidney disease(B) 11/14/2017 -10.5 1.666666667 BLB 3 167506 Simple 376112916 T . CI 1 3 "not specified(US);not specified(LB);Epidermolysa bullosa simplex and limb girdle muscular dystrophy(B);Epidermolysis bullosa simplex, Ogna type(B);Epidermolysis bullosa simplex with pyloric atresia(B);Limb-girdle muscular dystrophy, type 2Q(B);Epidermolysis bullosa simplex with nail dystrophy(B)" 8/17/2017 -9.3 0.666666667 BLB 3 167510 Simple 201430180 T . CI 1 5 "not specified(B);not specified(LB);not provided(LB);not specified(LB);Epidermolysa bullosa simplex and limb girdle muscular dystrophy(LB);Epidermolysis bullosa simplex, Ogna type(LB);Epidermolysis bullosa simplex with pyloric atresia(LB);Limb-girdle muscular dystrophy, type 2Q(LB);Epidermolysis bullosa simplex with nail dystrophy(LB)" 12/19/2017 -17.4 0.6 BLB 3 167515 Simple 528031000 - . CI 1 4 "not specified(US);not specified(LB);not specified(LB);Epidermolysa bullosa simplex and limb girdle muscular dystrophy(LB);Epidermolysis bullosa simplex, Ogna type(LB);Epidermolysis bullosa simplex with pyloric atresia(LB);Limb-girdle muscular dystrophy, type 2Q(LB);Epidermolysis bullosa simplex with nail dystrophy(LB)" 11/14/2017 -9.3 0.5 BLB 3 167582 Simple 41275239 A . CI 1 6 "not specified(B);not specified(LB);Lissencephaly, Recessive(US);not specified(B);not provided(LB);Lissencephaly 2(B);Epilepsy, familial temporal lobe, 7(B)" 12/13/2017 -22.8 1.166666667 BLB 3 167585 Simple 143213152 T . CI 1 4 "not specified(LB);not specified(LB);not specified(LB);Lissencephaly 2(B);Epilepsy, familial temporal lobe, 7(B)" 12/26/2017 -14.4 1 BLB 3 167624 Simple 143861818 T . CI 1 8 "Malignant hyperthermia susceptibility(LB);Multiminicore Disease(LB);Neuromuscular disease, congenital, with uniform type 1 fiber(LB);Central core disease(LB);not specified(LB);not specified(US);not specified(B);RYR1-Related Disorders(B)" 12/29/2017 -25.5 1.125 BLB 3 167631 Simple 117180147 C . CI 1 7 "not specified(US);not specified(B);Catecholaminergic polymorphic ventricular tachycardia(B);Cardiovascular phenotype(B);Catecholaminergic polymorphic ventricular tachycardia(LB);Cardiomyopathy, ARVC(LB);not provided(B)" 12/26/2017 -29.01 1.571428571 B 3 167692 Simple 199904356 T . CI 1 3 not specified(US);not specified(LB);Spastic paraplegia(B) 1/11/2018 -8.91 2 BLB 3 167720 Simple 200543425 G . CI 1 3 "not specified(US);Early Infantile Epileptic Encephalopathy, Autosomal Dominant(LB);Early infantile epileptic encephalopathy(B)" 10/31/2017 -9.27 1 BLB 3 167754 Simple 727504184 A . CI 1 7 "Dilated cardiomyopathy 1G(LP);Primary dilated cardiomyopathy(US);Hereditary myopathy with early respiratory failure(LP);Distal myopathy Markesbery-Griggs type(LP);Myopathy, early-onset, with fatal cardiomyopathy(LP);Familial hypertrophic cardiomyopathy 9(LP);Limb-girdle muscular dystrophy, type 2J(LP)" 10/8/2014 12.36 3.857142857 PLP 3 167756 Simple 56173891 C . CI 1 12 "Distal myopathy Markesbery-Griggs type(US);Hypertrophic cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Hereditary myopathy with early respiratory failure(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);not specified(US);Cardiovascular phenotype(US);not specified(US);not specified(US);not specified(LB)" 3/2/2018 -9 0.75 BLB 3 167764 Simple 369528150 T . CI 1 4 "not specified(US);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);not specified(LB);Cardiovascular phenotype(LB)" 1/17/2018 -8.97 1.25 BLB 3 167775 Simple 727504190 C . CI 1 3 "not specified(US);not specified(B);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB)" 7/19/2017 -9.27 1 BLB 3 167787 Simple 143049740 A . CI 1 3 not specified(US);not specified(LB);not specified(B) 1/23/2017 -8.61 2.333333333 BLB 3 167825 Simple 80028865 T . CI 1 4 not specified(US);Wagner syndrome(LB);Wagner syndrome(LB);Vitreoretinopathy(LB) 6/14/2016 -9.21 1.75 BLB 3 167843 Simple 187546086 C . CI 1 5 not specified(US);Jeune thoracic dystrophy(US);Cranioectodermal dysplasia(US);not specified(LB);Asphyxiating thoracic dystrophy 5(B);Senior-Loken syndrome 8(B) 9/16/2017 -9.51 1.6 BLB 3 167875 Simple 7800847 A . CI 1 2 Premature ovarian failure(LB);not specified(B) 6/5/2017 -9 0.5 BLB 3 177623 Simple 727504236 C . CI 1 3 not specified(US);Hypertrophic cardiomyopathy(LP);Hypertrophic cardiomyopathy(P) 2/9/2017 8.52 2.666666667 PLP 3 177625 Simple 727504238 C . CI 1 5 Primary familial hypertrophic cardiomyopathy(LP);not specified(US);Familial hypertrophic cardiomyopathy 1(LP);Hypertrophic cardiomyopathy(LP);Familial hypertrophic cardiomyopathy 1(LP) 8/1/2017 11.1 1 PLP 3 177630 Simple 727504242 A . CI 1 3 not specified(US);not provided(P);Hypertrophic cardiomyopathy(LP) 1/10/2018 8.7 0.333333333 PLP 3 177631 Simple 727504243 A . CI 1 4 not specified(US);not provided(P);Primary familial hypertrophic cardiomyopathy(LP);Hypertrophic cardiomyopathy(LP) 8/21/2017 11.16 1.75 PLP 3 177677 Simple 36212066 . . CI 1 5 Primary familial hypertrophic cardiomyopathy(LP);not specified(US);Primary familial hypertrophic cardiomyopathy(LP);Left ventricular noncompaction 10(LP);Hypertrophic cardiomyopathy(P) 1/30/2018 13.5 1.2 PLP 3 177689 Simple 187705120 T . CI 1 3 not specified(US);Familial hypertrophic cardiomyopathy 1(LB);Hypertrophic cardiomyopathy(B) 9/13/2017 -8.64 2 BLB 3 177694 Simple 727504285 C . CI 1 4 not specified(US);not provided(LP);Primary familial hypertrophic cardiomyopathy(LP);Hypertrophic cardiomyopathy(LP) 12/27/2017 8.7 0.25 PLP 3 177736 Simple 376898963 A . CI 1 6 "not specified(LB);not specified(US);Nonsyndromic Hearing Loss, Dominant(LB);Hystrix-like ichthyosis with deafness(LB);Nonsyndromic Hearing Loss, Recessive(LB);Keratitis-Ichthyosis-Deafness Syndrome(LB)" 6/14/2016 -14.64 1.666666667 BLB 3 177781 Simple 142494121 A . CI 1 10 "not specified(US);not provided(LB);not specified(B);not provided(LB);Skin fragility woolly hair syndrome(LB);Ectodermal dysplasia skin fragility syndrome(LB);Epidermolysis bullosa, lethal acantholytic(LB);Cardiomyopathy, ARVC(LB);Dilated cardiomyopathy with woolly hair and keratoderma(LB);Arrhythmogenic right ventricular cardiomyopathy, type 8(LB);Cardiovascular phenotype(US)" 2/7/2018 -26.31 1.4 BLB 3 177810 Simple 148176750 G . CI 1 7 not specified(US);Thoracic aortic aneurysm and aortic dissection(LB);Thoracic aortic aneurysm and aortic dissection(LB);Loeys-Dietz syndrome 1(LB);Loeys-Dietz syndrome(LB);not specified(US);Cardiovascular phenotype(LB) 5/26/2017 -15.45 2.285714286 BLB 3 177897 Simple 148808089 A . CI 1 4 not specified(US);Familial hypertrophic cardiomyopathy 1(P);Hypertrophic cardiomyopathy(LP);Cardiovascular phenotype(LP) 9/30/2017 10.59 2 PLP 3 177937 Simple 149433837 A . CI 1 5 not specified(US);not provided(LB);not specified(LB);Dilated cardiomyopathy 1AA(LB);Primary familial hypertrophic cardiomyopathy(LB);Cardiovascular phenotype(US) 3/1/2018 -8.64 1.6 BLB 3 177972 Simple 72648989 C . CI 1 7 "not specified(US);not provided(US);not specified(LB);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);not specified(US);not specified(US);not specified(LB)" 1/11/2018 -10.02 1.571428571 BLB 3 177973 Simple 143269044 G . CI 1 4 not specified(US);not specified(B);Dilated cardiomyopathy 1JJ(LB);Cardiovascular phenotype(LB) 12/11/2017 -11.67 1 BLB 3 177978 Simple 140714512 T . CI 1 12 "not specified(US);not provided(LB);not specified(LB);Cardiovascular phenotype(US);not specified(US);Dilated Cardiomyopathy, Dominant(US);Hypertrophic cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Distal myopathy Markesbery-Griggs type(US);Hereditary myopathy with early respiratory failure(US);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B)" 2/7/2018 -13.62 1.583333333 BLB 3 178007 Simple 145393807 T . CI 1 8 "not specified(US);not provided(LB);not specified(LB);not specified(LB);Myofibrillar myopathy, BAG3-related(LB);Dilated cardiomyopathy 1HH(LB);not provided(LB);not specified(B);Cardiovascular phenotype(LB)" 1/5/2018 -22.77 1.375 BLB 3 178013 Simple 149787233 A . CI 1 7 "not specified(US);Alpha-B crystallinopathy(LB);Myofibrillar Myopathy, Dominant(LB);Posterior polar cataract(LB);not specified(US);Cardiovascular phenotype(US);Dilated cardiomyopathy 1II(US)" 1/9/2018 -10.08 1.428571429 BLB 3 178015 Simple 144261171 A . CI 1 9 "not specified(US);Myofibrillar myopathy 1(US);Muscular dystrophy, limb-girdle, type 2r(US);not specified(US);Myofibrillar Myopathy, Dominant(LB);Dilated Cardiomyopathy, Dominant(LB);Myofibrillar myopathy 1(LB);Scapuloperoneal weakness(LB);not specified(US);not specified(US)" 11/22/2017 -13.41 1.111111111 BLB 3 178016 Simple 367961979 A . CI 1 6 "not specified(US);Myofibrillar myopathy 1(LB);Dilated Cardiomyopathy, Dominant(LB);Scapuloperoneal weakness(LB);Myofibrillar Myopathy, Dominant(LB);Myofibrillar myopathy 1(US);Muscular dystrophy, limb-girdle, type 2r(US)" 1/3/2018 -12.48 1.5 BLB 3 178022 Simple 149617776 T . CI 1 8 "not specified(LB);not provided(LB);Arrhythmogenic right ventricular cardiomyopathy, type 10(B);Cardiomyopathy, ARVC(US);Dilated Cardiomyopathy, Dominant(US);not provided(LB);not specified(B);Cardiovascular phenotype(B)" 12/31/2017 -26.1 1.5 BLB 3 178030 Simple 138907450 C . CI 1 9 "not specified(US);not specified(US);not specified(US);Skin fragility woolly hair syndrome(LB);Ectodermal dysplasia skin fragility syndrome(LB);Epidermolysis bullosa, lethal acantholytic(LB);Cardiomyopathy, ARVC(LB);Dilated cardiomyopathy with woolly hair and keratoderma(US);Arrhythmogenic right ventricular cardiomyopathy, type 8(US);Cardiovascular phenotype(US)" 7/26/2017 -13.44 1.111111111 BLB 3 178032 Simple 147415451 A . CI 1 11 "not specified(US);not provided(LB);not specified(LB);not specified(LB);Dilated cardiomyopathy with woolly hair and keratoderma(LB);Arrhythmogenic right ventricular cardiomyopathy, type 8(LB);Epidermolysis bullosa, lethal acantholytic(LB);Cardiomyopathy, ARVC(LB);Ectodermal dysplasia skin fragility syndrome(LB);Skin fragility woolly hair syndrome(LB);not provided(LB);Cardiovascular phenotype(LB)" 2/8/2018 -29.04 1.363636364 B 3 178065 Simple 143048583 A . CI 1 5 not specified(LB);not specified(US);Familial hypertrophic cardiomyopathy 14(LB);not specified(LB);Cardiovascular phenotype(LB) 11/16/2017 -11.04 1.8 BLB 3 178071 Simple 149734381 A . CI 1 6 "not specified(LB);Dilated Cardiomyopathy, Dominant(US);Hypertrophic cardiomyopathy(US);Atrial septal defect(US);Familial hypertrophic cardiomyopathy 14(LB);not specified(LB)" 11/27/2017 -8.4 1.5 BLB 3 178076 Simple 148091079 T . CI 1 7 "not specified(LB);Atrial septal defect(US);Dilated Cardiomyopathy, Dominant(US);Hypertrophic cardiomyopathy(US);Familial hypertrophic cardiomyopathy 14(B);not specified(LB);Cardiovascular phenotype(LB)" 3/1/2018 -15 1.142857143 BLB 3 178080 Simple 368734580 A . CI 1 4 not specified(LB);not specified(US);not specified(B);Hypertrophic cardiomyopathy(LB) 7/24/2017 -12.24 1.25 BLB 3 178103 Simple 374260457 A . CI 1 6 "not specified(LB);Dilated Cardiomyopathy, Dominant(US);Hypertrophic cardiomyopathy(US);not specified(B);Dilated cardiomyopathy 1CC(LB);Familial hypertrophic cardiomyopathy 20(LB);Cardiovascular phenotype(LB)" 2/20/2017 -14.1 1.666666667 BLB 3 178104 Simple 142739534 A . CI 1 5 not specified(LB);Noonan syndrome(US);Rasopathy(B);not provided(B);not specified(LB) 10/16/2017 -16.8 1.8 BLB 3 178106 Simple 368740836 T . CI 1 4 "not specified(US);Cardiovascular phenotype(LB);not specified(LB);Arrhythmogenic right ventricular cardiomyopathy, type 9(LB)" 1/16/2018 -9.24 1 BLB 3 178107 Simple 201944276 A . CI 1 5 "not specified(US);not provided(LB);not specified(LB);Cardiovascular phenotype(LB);Arrhythmogenic right ventricular cardiomyopathy, type 9(LB)" 9/28/2017 -11.04 1.8 BLB 3 178111 Simple 202238753 T . CI 1 6 "Dilated Cardiomyopathy, Dominant(US);Dilated cardiomyopathy 1DD(LB);Dilated cardiomyopathy(LB);Cardiovascular phenotype(LB);not specified(US);not specified(US)" 1/6/2018 -9.84 1.166666667 BLB 3 178134 Simple 114636635 C . CI 1 4 not specified(LB);Legius syndrome(B);not provided(B);not specified(LB) 2/21/2018 -16.5 1.75 BLB 3 178141 Simple 138790561 T . CI 1 5 "not specified(US);not provided(LB);Dilated Cardiomyopathy, Dominant(US);Loeys-Dietz syndrome 2(B);Cardiovascular phenotype(B)" 11/3/2017 -14.64 1.6 BLB 3 178143 Simple 145703021 C . CI 1 5 "not specified(LB);not specified(B);Loeys-Dietz syndrome 2(B);Cardiovascular phenotype(LB);Dilated Cardiomyopathy, Dominant(US)" 10/23/2017 -17.1 1.2 BLB 3 178146 Simple 202228866 T . CI 1 6 not specified(US);not specified(LB);not specified(B);Hypertrophic cardiomyopathy(B);Cardiovascular phenotype(B);not specified(LB) 12/27/2017 -22.11 2.166666667 BLB 3 178150 Simple 377439315 G . CI 1 11 "not specified(LB);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Cardiovascular phenotype(LB);not specified(LB);Myopathy, early-onset, with fatal cardiomyopathy(US);Distal myopathy Markesbery-Griggs type(US);Hypertrophic cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Hereditary myopathy with early respiratory failure(US);Limb-Girdle Muscular Dystrophy, Recessive(US)" 11/18/2017 -19.8 1.636363636 BLB 3 178153 Simple 201218828 G . CI 1 6 "not specified(LB);not provided(LB);not specified(LB);Cardiovascular phenotype(US);not specified(LB);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB)" 3/12/2018 -13.5 1.5 BLB 3 178158 Simple 201246720 C . CI 1 5 "not specified(LB);Cardiovascular phenotype(LB);not specified(US);not specified(LB);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB)" 1/2/2018 -11.07 1.8 BLB 3 178162 Simple 368686031 T . CI 1 11 "not specified(LB);Cardiovascular phenotype(LB);not specified(US);Dilated Cardiomyopathy, Dominant(US);Distal myopathy Markesbery-Griggs type(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);Hypertrophic cardiomyopathy(US);not specified(B);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB)" 12/15/2017 -14.67 1.545454545 BLB 3 178164 Simple 199805060 A . CI 1 12 "not specified(LB);not provided(LB);not specified(LB);not specified(LB);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Cardiovascular phenotype(US);Hypertrophic cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);Distal myopathy Markesbery-Griggs type(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Dilated Cardiomyopathy, Dominant(US);Myopathy, early-onset, with fatal cardiomyopathy(US)" 1/4/2018 -16.98 2 BLB 3 178175 Simple 200193877 C . CI 1 6 "Dilated cardiomyopathy 1G(US);Limb-girdle muscular dystrophy, type 2J(US);not specified(US);not specified(US);Cardiovascular phenotype(LB);not specified(LB);not specified(LB)" 1/16/2018 -9 0.833333333 BLB 3 178178 Simple 143975327 C . CI 1 10 "not specified(LB);Hereditary myopathy with early respiratory failure(US);Distal myopathy Markesbery-Griggs type(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Hypertrophic cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);not specified(LB);not specified(LB)" 7/31/2017 -12.9 1.1 BLB 3 178186 Simple 186402008 T . CI 1 5 "not specified(LB);not specified(LB);not specified(LB);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);Cardiovascular phenotype(LB)" 1/18/2018 -14.7 0.6 BLB 3 178191 Simple 200317412 T . CI 1 4 "not specified(LB);not specified(LB);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);Cardiovascular phenotype(US)" 1/5/2018 -8.4 1 BLB 3 178196 Simple 200797552 T . CI 1 12 "not specified(LB);not provided(US);not specified(LB);Dilated cardiomyopathy 1G(US);Limb-girdle muscular dystrophy, type 2J(US);Cardiovascular phenotype(US);Hereditary myopathy with early respiratory failure(US);Distal myopathy Markesbery-Griggs type(US);Dilated Cardiomyopathy, Dominant(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Hypertrophic cardiomyopathy(US);not specified(B)" 1/22/2018 -14.49 1.416666667 BLB 3 178197 Simple 79406408 A . CI 1 3 "not specified(LB);not specified(LB);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B)" 11/19/2017 -11.4 1.333333333 BLB 3 178198 Simple 375538420 A . CI 1 10 "not specified(LB);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);Limb-Girdle Muscular Dystrophy, Recessive(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Distal myopathy Markesbery-Griggs type(US);Hereditary myopathy with early respiratory failure(US);Dilated Cardiomyopathy, Dominant(US);Hypertrophic cardiomyopathy(US);not specified(B);Cardiovascular phenotype(LB)" 1/20/2017 -15.3 1.4 BLB 3 178211 Simple 72677223 A . CI 1 5 "not specified(LB);not specified(B);not specified(US);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);Cardiovascular phenotype(LB)" 10/18/2017 -13.8 1.4 BLB 3 178219 Simple 186699871 C . CI 1 12 "not specified(LB);not specified(B);Cardiovascular phenotype(LB);not specified(LB);Hypertrophic cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);Distal myopathy Markesbery-Griggs type(US);Dilated Cardiomyopathy, Dominant(US);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(B)" 11/18/2017 -24.9 1.833333333 BLB 3 178227 Simple 150733188 G . CI 1 5 "not specified(LB);not specified(LB);not specified(LB);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Cardiovascular phenotype(US)" 1/4/2018 -13.08 2.8 BLB 3 178244 Simple 202089818 A . CI 1 10 "not specified(LB);not specified(B);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);not specified(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);Hypertrophic cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Distal myopathy Markesbery-Griggs type(US);Limb-Girdle Muscular Dystrophy, Recessive(US)" 11/14/2017 -11.67 1.6 BLB 3 178257 Simple 201437752 T . CI 1 5 not specified(LB);not provided(LB);not specified(LB);not specified(US);Cardiovascular phenotype(LB) 10/27/2017 -10.8 1.8 BLB 3 178286 Simple 143125497 A . CI 1 3 not specified(B);not specified(US);not specified(B) 2/13/2017 -11.04 2.333333333 BLB 3 178315 Simple 144688588 C . CI 1 7 "not specified(US);Retinitis pigmentosa-deafness syndrome(US);Nonsyndromic Hearing Loss, Recessive(US);Atypical Gaucher Disease(LB);Combined saposin deficiency(LB);Metachromatic leukodystrophy(LB);Galactosylceramide beta-galactosidase deficiency(LB)" 3/7/2017 -12.9 1 BLB 3 178317 Simple 377118941 T . CI 1 9 "not specified(LB);not specified(B);Nonsyndromic Hearing Loss, Recessive(US);Retinitis pigmentosa-deafness syndrome(US);CDH23-Related Disorders(US);Combined saposin deficiency(LB);Metachromatic leukodystrophy(LB);Galactosylceramide beta-galactosidase deficiency(LB);Atypical Gaucher Disease(LB)" 6/14/2016 -20.4 1.444444444 BLB 3 178339 Simple 185220846 C . CI 1 4 "not specified(B);not specified(B);Nonsyndromic Hearing Loss, Recessive(US);not specified(LB)" 5/9/2017 -13.5 1.75 BLB 3 178390 Simple 189873733 A . CI 1 4 "not specified(B);not specified(LB);Nonsyndromic Hearing Loss, Recessive(US);not specified(LB)" 1/12/2018 -12 0.75 BLB 3 178407 Simple 139854607 G . CI 1 4 "not specified(B);not specified(B);Nonsyndromic Hearing Loss, Recessive(US);not specified(LB)" 9/8/2017 -11.1 2.5 BLB 3 178431 Simple 143947828 A . CI 1 5 "not specified(LB);not specified(US);MYH9-related disorder(LB);Nonsyndromic Hearing Loss, Dominant(LB);not specified(LB)" 10/13/2017 -10.74 2.2 BLB 3 178466 Simple 61729833 A . CI 1 3 "not specified(B);Nonsyndromic Hearing Loss, Recessive(US);not specified(B)" 1/18/2018 -9.3 2.333333333 BLB 3 178614 Simple 34723936 A . CI 1 3 "not specified(B);Nonsyndromic Hearing Loss, Recessive(US);not specified(B)" 12/18/2017 -9.3 2.333333333 BLB 3 178642 Simple 202095395 T . CI 1 3 not specified(B);not specified(US);not specified(LB) 12/14/2017 -9.3 0.666666667 BLB 3 178704 Simple 75248449 C . CI 1 3 not specified(B);Hermansky-Pudlak syndrome(US);Hermansky Pudlak syndrome 2(B) 1/8/2018 -9.9 2 BLB 3 178710 Simple 117203086 C . CI 1 3 not specified(B);Ciliary dyskinesia(B);Ciliary dyskinesia(US) 8/11/2017 -9.9 2 BLB 3 178722 Simple 72655977 T . CI 1 4 not specified(B);not specified(B);Ciliary dyskinesia(US);Ciliary dyskinesia(B) 12/24/2017 -15.3 2 BLB 3 178729 Simple 72657374 A . CI 1 3 not specified(B);Ciliary dyskinesia(B);Ciliary dyskinesia(US) 8/14/2017 -9.9 2 BLB 3 178754 Simple 115004914 T . CI 1 4 not specified(B);not specified(B);Ciliary dyskinesia(B);Ciliary dyskinesia(US) 11/10/2017 -16.5 1.5 BLB 3 178758 Simple 139640247 A . CI 1 3 not specified(B);Ciliary dyskinesia(B);Ciliary dyskinesia(US) 12/14/2017 -9.9 2 BLB 3 178767 Simple 16937932 T . CI 1 4 "not specified(B);Hyper-IgE syndrome(US);not specified(US);Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive(B)" 10/19/2017 -10.2 1.75 BLB 3 178801 Simple 117169123 A . CI 1 3 not specified(B);Ciliary dyskinesia(B);Ciliary dyskinesia(US) 8/7/2017 -9.9 2 BLB 3 178877 Simple 201047984 A . CI 1 4 not specified(LB);not specified(US);Dilated cardiomyopathy 1DD(B);Cardiovascular phenotype(US) 8/18/2017 -9.48 1.75 BLB 3 178904 Simple 559464457 C . CI 1 5 "not specified(LB);Dilated Cardiomyopathy, Dominant(US);Hypertrophic cardiomyopathy(US);not specified(LB);Dilated cardiomyopathy 1CC(LB);Familial hypertrophic cardiomyopathy 20(LB)" 2/20/2018 -8.4 1.4 BLB 3 178905 Simple 727504528 C . CI 1 4 "not specified(LB);Cardiovascular phenotype(LB);not specified(US);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB)" 12/27/2017 -8.67 1.5 BLB 3 178924 Simple 200947059 T . CI 1 3 not specified(B);not specified(US);not specified(LB) 1/8/2018 -9.24 1 BLB 3 179010 Simple 553668520 A . CI 1 5 "Cardiovascular phenotype(LB);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(B);not specified(US)" 2/25/2017 -20.31 2 BLB 3 179011 Simple 370509593 A . CI 1 4 "not specified(LB);not provided(US);not specified(LB);Arrhythmogenic right ventricular cardiomyopathy, type 10(B)" 7/24/2017 -11.91 1.5 BLB 3 179022 Simple 201016285 T . CI 1 7 "not specified(B);Cardiovascular phenotype(LB);Hypertrophic cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Atrial septal defect(US);not specified(B);Familial hypertrophic cardiomyopathy 14(B)" 10/31/2017 -19.8 1.571428571 BLB 3 179026 Simple 149930872 A . CI 1 11 "not specified(LB);Arrhythmogenic right ventricular cardiomyopathy, type 9(LB);Becker muscular dystrophy(US);Dilated cardiomyopathy 3B(US);Duchenne muscular dystrophy(US);Arrhythmogenic right ventricular cardiomyopathy, type 9(US);Brugada syndrome(US);Primary dilated cardiomyopathy(US);Cardiovascular phenotype(LB);not specified(LB);not provided(LB)" 1/9/2018 -15 0.818181818 BLB 3 179034 Simple 202000367 T . CI 1 5 "not specified(LB);Dilated Cardiomyopathy, Dominant(US);Hypertrophic cardiomyopathy(US);Dilated cardiomyopathy 1Z(B);Familial hypertrophic cardiomyopathy 13(B);Cardiovascular phenotype(LB)" 1/2/2018 -11.7 1.4 BLB 3 179039 Simple 369855092 T . CI 1 10 "not specified(B);not specified(B);not specified(B);Hereditary myopathy with early respiratory failure(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Dilated Cardiomyopathy, Dominant(US);Hypertrophic cardiomyopathy(US);Distal myopathy Markesbery-Griggs type(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B)" 9/6/2017 -24.6 1.1 BLB 3 179046 Simple 186563991 C . CI 1 11 "not specified(B);Cardiovascular phenotype(LB);not specified(LB);Distal myopathy Markesbery-Griggs type(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Hypertrophic cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B)" 10/22/2017 -23.4 1.454545455 BLB 3 179056 Simple 185962498 T . CI 1 3 "not specified(LB);not specified(US);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B)" 12/29/2017 -8.67 1.666666667 BLB 3 179138 Simple 727504659 T . CI 1 4 "not specified(LB);Dilated Cardiomyopathy, Dominant(US);not specified(LB);Cardiovascular phenotype(LB)" 11/2/2016 -8.4 1.75 BLB 3 179419 Simple 552951988 A . CI 1 5 "not specified(B);not specified(B);Cardiovascular phenotype(US);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B)" 10/18/2017 -22.98 2 BLB 3 179522 Simple 727504922 - . CI 1 11 "Myopathy, early-onset, with fatal cardiomyopathy(US);Distal myopathy Markesbery-Griggs type(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Hypertrophic cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);Dilated Cardiomyopathy, Dominant(US);not specified(B);not specified(B);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);not specified(LB);not specified(B)" 6/16/2017 -24 1.181818182 BLB 3 179544 Simple 558830502 A . CI 1 9 "not specified(LB);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Hypertrophic cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Hereditary myopathy with early respiratory failure(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Distal myopathy Markesbery-Griggs type(US);Myopathy, early-onset, with fatal cardiomyopathy(US);not specified(LB)" 3/15/2018 -12.9 1.111111111 BLB 3 179551 Simple 201255023 G . CI 1 3 not specified(US);not specified(LB);Dilated cardiomyopathy 1AA(B);Primary familial hypertrophic cardiomyopathy(B) 8/3/2017 -9.24 1.333333333 BLB 3 179813 Simple 538707712 A . CI 1 10 "not specified(LB);Romano-Ward syndrome(US);Paroxysmal familial ventricular fibrillation(US);Sick sinus syndrome(US);Progressive familial heart block(US);Brugada syndrome(US);Dilated Cardiomyopathy, Dominant(US);Long QT syndrome(US);Brugada syndrome(B);Cardiovascular phenotype(LB)" 11/16/2017 -13.5 1.1 BLB 3 179991 Simple 535581825 A . CI 1 7 "not specified(LB);Cardiomyopathy, ARVC(US);not specified(LB);Arrhythmogenic right ventricular cardiomyopathy, type 9(B);not provided(B);Arrhythmogenic right ventricular cardiomyopathy, type 9(B);Arrhythmogenic right ventricular cardiomyopathy, type 9(LB)" 11/30/2017 -27 0.571428571 B 3 180028 Simple 369503828 C . CI 1 9 "not specified(LB);Myopathy, early-onset, with fatal cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Hereditary myopathy with early respiratory failure(US);Hypertrophic cardiomyopathy(US);Distal myopathy Markesbery-Griggs type(US);Dilated Cardiomyopathy, Dominant(US);not specified(LB);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B)" 4/14/2017 -13.2 1.222222222 BLB 3 180094 Simple 200406978 G . CI 1 11 "not specified(LB);not provided(US);not specified(LB);not specified(LB);Hereditary myopathy with early respiratory failure(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Hypertrophic cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Distal myopathy Markesbery-Griggs type(US);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B)" 12/20/2017 -16.11 1.363636364 BLB 3 180262 Simple 139965373 A . CI 1 5 not provided(LB);Long QT syndrome(B);Romano-Ward syndrome(US);Long QT syndrome(US);Cardiovascular phenotype(US) 1/4/2018 -9 1.2 BLB 3 180263 Simple 151021935 G . CI 1 6 Long QT syndrome(LB);not specified(LB);not provided(LB);Romano-Ward syndrome(US);Long QT syndrome(US);Cardiovascular phenotype(LB) 12/20/2017 -11.7 1.333333333 BLB 3 180269 Simple 35249198 T . CI 1 5 not specified(B);Long QT syndrome(B);Long QT syndrome(US);not specified(B);Cardiovascular phenotype(B) 12/22/2017 -22.5 1.4 BLB 3 180270 Simple 149645600 A . CI 1 4 "Long QT syndrome(LB);Cardiovascular phenotype(LB);not specified(LB);Cardiac arrhythmia, ankyrin B-related(LB)" 11/27/2017 -12 0.25 BLB 3 180280 Simple 541497967 - . CI 1 9 "not specified(LB);Familial hypercholesterolemia(US);Familial hypercholesterolemia(LB);not specified(B);Hypercholesterolemia, autosomal dominant, type B(B);Hypobetalipoproteinemia, familial, 1(B);Familial hypercholesterolemia(US);Familial hypercholesterolemia(LB);not specified(LB);Familial hypercholesterolemia(US)" 1/8/2018 -24.21 1 BLB 3 180300 Simple 143859495 A . CI 1 4 "not specified(US);not specified(LB);Ehlers-Danlos syndrome, classic type(LB);Cardiovascular phenotype(LB)" 2/22/2018 -9.24 0.75 BLB 3 180314 Simple 201302282 T . CI 1 6 not specified(LB);not specified(US);not specified(LB);Duchenne muscular dystrophy(B);not specified(US);Cardiovascular phenotype(US) 1/24/2018 -12.57 1 BLB 3 180318 Simple 142410803 A . CI 1 3 "not specified(B);not specified(LB);Arrhythmogenic right ventricular cardiomyopathy, type 11(B)" 1/2/2018 -14.4 1.333333333 BLB 3 180319 Simple 377272752 - . CI 1 6 "Cardiomyopathy, arrhythmogenic right ventricular dysplasia(B);not specified(B);not specified(B);Cardiovascular phenotype(US);Arrhythmogenic right ventricular cardiomyopathy, type 11(B);Arrhythmogenic right ventricular cardiomyopathy, type 11(LB)" 4/5/2018 -25.98 1.666666667 BLB 3 180330 Simple 200243976 T . CI 1 7 "Epidermolysis bullosa, lethal acantholytic(LB);Ectodermal dysplasia skin fragility syndrome(LB);Cardiomyopathy, ARVC(LB);Skin fragility woolly hair syndrome(LB);not specified(US);Dilated cardiomyopathy with woolly hair and keratoderma(US);Arrhythmogenic right ventricular cardiomyopathy, type 8(US);Cardiovascular phenotype(US)" 10/17/2017 -12.9 0.714285714 BLB 3 180376 Simple 200327969 A . CI 1 2 "not specified(LB);Naxos disease(B);Arrhythmogenic right ventricular cardiomyopathy, type 12(B)" 10/3/2017 -9 0.5 BLB 3 180399 Simple 200596619 A . CI 1 2 "not specified(LB);Myofibrillar myopathy, ZASP-related(B)" 4/28/2017 -9 1 BLB 3 180418 Simple 137934837 T . CI 1 5 "not specified(LB);Aortic aneurysm, familial thoracic 4(LB);Cardiovascular phenotype(US);Aortic aneurysm, familial thoracic 4(US);not specified(LB)" 1/24/2018 -9.57 0.4 BLB 3 180419 Simple 111854563 A . CI 1 4 "not specified(LB);Aortic aneurysm, familial thoracic 4(LB);not provided(B);Cardiovascular phenotype(US)" 12/14/2017 -11.7 0.75 BLB 3 180489 Simple 561321743 C . CI 1 3 not specified(LB);not specified(LB);Catecholaminergic polymorphic ventricular tachycardia(B) 12/19/2017 -11.4 1 BLB 3 180500 Simple 201081663 G . CI 1 3 not specified(LB);Catecholaminergic polymorphic ventricular tachycardia(LB);not specified(LB) 12/28/2017 -8.7 1 BLB 3 180508 Simple 72558029 A . CI 1 10 "not specified(LB);not specified(B);not provided(US);Long QT syndrome(LB);not specified(LB);Brugada syndrome 5(B);Cardiovascular phenotype(B);Cardiac conduction defect, nonspecific(LB);Brugada syndrome(LB);Generalized epilepsy with febrile seizures plus(LB)" 7/20/2017 -32.91 2 B 3 180509 Simple 72558026 A . CI 1 3 not specified(B);not provided(US);Brugada syndrome 5(B) 12/18/2017 -12.21 1.333333333 BLB 3 180521 Simple 730880211 AA . CI 1 4 not specified(LB);Brugada syndrome(LB);not specified(US);Cardiovascular phenotype(LB) 2/27/2018 -9.3 0.25 BLB 3 180563 Simple 56355369 C . CI 1 3 Progressive familial heart block type 1B(B);not specified(B);Cardiovascular phenotype(LB) 12/20/2017 -15 0.333333333 BLB 3 180694 Simple 77613865 G . CI 1 3 not specified(B);Hypertrophic cardiomyopathy(B);Cardiovascular phenotype(B) 1/4/2018 -14.4 2.666666667 BLB 3 180895 Simple 368800650 G . CI 1 4 not specified(B);Noonan syndrome(US);Cardio-facio-cutaneous syndrome(US);Rasopathy(LB) 10/10/2017 -8.4 1.25 BLB 3 181102 Simple 730880674 - . CI 1 5 not specified(US);Primary familial hypertrophic cardiomyopathy(LP);Familial hypertrophic cardiomyopathy 4(P);Familial hypertrophic cardiomyopathy 4(P);not specified(US) 10/26/2017 14.1 0.8 PLP 3 181127 Simple 375675796 A . CI 1 4 not provided(LP);Hypertrophic cardiomyopathy(US);Cardiovascular phenotype(LP);Primary familial hypertrophic cardiomyopathy(LP) 2/13/2018 8.7 0.5 PLP 3 181401 Simple 730880922 C . CI 1 5 not provided(P);Hypertrophic cardiomyopathy(P);not specified(US);not specified(US);Cardiovascular phenotype(LP) 12/22/2017 11.4 1.6 PLP 3 181693 Simple 11541790 T . CI 1 3 not provided(P);Amyloidogenic transthyretin amyloidosis(US);Amyloidogenic transthyretin amyloidosis(P) 12/19/2017 10.5 1.333333333 PLP 3 181711 Simple 201881288 T . CI 1 4 not specified(LB);Mowat-Wilson syndrome(US);not specified(B);Mowat-Wilson syndrome(LB) 1/12/2018 -11.7 0.75 BLB 3 181761 Simple 146394306 C . CI 1 4 not specified(LB);Mowat-Wilson syndrome(LB);not provided(LB);Mowat-Wilson syndrome(US) 1/10/2018 -9.3 0.25 BLB 3 181850 Simple 147934285 G . CI 1 6 not specified(LB);Hereditary cancer-predisposing syndrome(B);not specified(B);Ataxia-telangiectasia syndrome(US);Hereditary cancer-predisposing syndrome(LB);not provided(US) 12/28/2017 -15.6 1.666666667 BLB 3 182030 Simple 150354152 T . CI 1 6 not specified(B);Hereditary cancer-predisposing syndrome(LB);Familial cancer of breast(B);Neoplasm of the breast(US);Hereditary cancer-predisposing syndrome(B);not provided(B) 1/8/2018 -24.3 1.833333333 BLB 3 182282 Simple 527732001 - . CI 1 9 not specified(B);not specified(US);not specified(LB);Hereditary breast and ovarian cancer syndrome(B);Hereditary breast and ovarian cancer syndrome(LB);Fanconi anemia(LB);not specified(US);not specified(LB);Hereditary cancer-predisposing syndrome(B) 1/10/2018 -28.14 1.666666667 B 3 182296 Simple 149769332 G . CI 1 5 not specified(B);Hereditary breast and ovarian cancer syndrome(LB);not specified(US);Hereditary cancer-predisposing syndrome(LB);not provided(US) 12/5/2017 -11.34 1.6 BLB 3 182357 Simple 113052745 T . CI 1 4 not specified(B);Neoplasm of the breast(US);Fanconi anemia(US);Hereditary cancer-predisposing syndrome(LB) 9/27/2016 -8.4 1.5 BLB 3 182363 Simple 730881641 - . CI 1 6 "Hereditary cancer-predisposing syndrome(B);Neoplasm of the breast(US);Fanconi anemia(US);Fanconi anemia, complementation group J(LB);Neoplasm of ovary(LB);Hereditary cancer-predisposing syndrome(B)" 6/14/2016 -16.8 1.5 BLB 3 182367 Simple 730881645 - . CI 1 5 "not specified(US);Hereditary cancer-predisposing syndrome(LP);Familial cancer of breast(LP);Fanconi anemia, complementation group J(LP);Fanconi anemia, complementation group J(LP);Neoplasm of ovary(LP);not provided(US)" 1/4/2018 8.43 1 PLP 3 182377 Simple 730881654 C . CI 1 8 not specified(B);Hereditary cancer-predisposing syndrome(LB);Hereditary diffuse gastric cancer(LB);Hereditary diffuse gastric cancer(US);Hereditary cancer-predisposing syndrome(LB);not specified(LB);not specified(LB);not provided(US) 1/12/2018 -19.5 1.5 BLB 3 182541 Simple 373076967 A . CI 1 7 not specified(B);Hereditary cancer-predisposing syndrome(LB);Hereditary nonpolyposis colon cancer(LB);Lynch syndrome(US);not specified(LB);Hereditary cancer-predisposing syndrome(LB);not provided(LB) 12/25/2017 -19.5 1.285714286 BLB 3 182547 Simple 3218740 A . CI 1 7 not specified(B);Hereditary cancer-predisposing syndrome(LB);Ataxia-telangiectasia-like disorder 1(LB);not specified(LB);Ataxia-telangiectasia-like disorder 1(US);Ataxia-telangiectasia-like disorder 1(LB);not specified(LB) 1/10/2018 -18.6 1.714285714 BLB 3 182549 Simple 137868143 G . CI 1 6 not specified(B);Hereditary cancer-predisposing syndrome(LB);Ataxia-telangiectasia-like disorder 1(B);not specified(LB);Ataxia-telangiectasia-like disorder 1(US);Ataxia-telangiectasia-like disorder 1(LB) 12/28/2017 -18.6 1.833333333 BLB 3 182595 Simple 141711342 C . CI 1 6 not specified(US);Hereditary cancer-predisposing syndrome(LB);Hereditary nonpolyposis colon cancer(LB);Lynch syndrome I(US);not specified(US);not provided(LB) 1/8/2018 -9.87 0.833333333 BLB 3 182643 Simple 730881802 T . CI 1 9 not specified(B);Hereditary cancer-predisposing syndrome(B);Hereditary nonpolyposis colon cancer(LB);Lynch syndrome(US);Hereditary nonpolyposis colorectal cancer type 5(LB);Hereditary cancer-predisposing syndrome(LB);not specified(LB);not specified(US);not provided(US) 11/16/2017 -22.2 1.222222222 BLB 3 182668 Simple 730881819 A . CI 1 4 not specified(B);Hereditary nonpolyposis colon cancer(LB);Hereditary nonpolyposis colorectal cancer type 5(US);Hereditary cancer-predisposing syndrome(LB) 12/24/2017 -10.8 1.5 BLB 3 182670 Simple 730881820 A . CI 1 5 not specified(B);Hereditary cancer-predisposing syndrome(LB);not specified(US);Hereditary nonpolyposis colon cancer(US);Hereditary cancer-predisposing syndrome(LB) 8/2/2017 -11.1 1 BLB 3 182699 Simple 730881838 A . CI 1 7 not specified(B);Hereditary cancer-predisposing syndrome(LB);MYH-associated polyposis(LB);MYH-associated polyposis(US);MYH-associated polyposis(LB);Hereditary cancer-predisposing syndrome(LB);not provided(US) 12/29/2017 -16.5 1.571428571 BLB 3 182706 Simple 121908974 A . CI 1 5 "not specified(B);Hereditary cancer-predisposing syndrome(LB);not specified(US);Microcephaly, normal intelligence and immunodeficiency(LB);Hereditary cancer-predisposing syndrome(LB)" 1/10/2018 -13.14 2.2 BLB 3 182749 Simple 367979106 T . CI 1 3 not specified(B);Familial cancer of breast(LB);Hereditary cancer-predisposing syndrome(LB) 12/20/2017 -10.8 1.333333333 BLB 3 182790 Simple 75023630 A . CI 1 8 not specified(LB);Hereditary cancer-predisposing syndrome(B);Familial cancer of breast(B);Familial cancer of breast(US);Hereditary cancer-predisposing syndrome(LB);Fanconi anemia(LB);not specified(US);Hereditary cancer-predisposing syndrome(LB) 1/8/2018 -22.74 1.5 BLB 3 182869 Simple 539739051 T . CI 1 8 not specified(US);Juvenile polyposis syndrome(US);Juvenile Polyposis(LB);Osler hemorrhagic telangiectasia syndrome(LB);Myhre syndrome(LB);Hereditary cancer-predisposing syndrome(US);Myhre syndrome(US);Juvenile polyposis syndrome(US);Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome(US);Carcinoma of pancreas(US);Cardiovascular phenotype(US) 12/27/2017 -10.5 0.5 BLB 3 182877 Simple 372511774 T . CI 1 8 not specified(B);Hereditary cancer-predisposing syndrome(LB);not specified(US);Peutz-Jeghers syndrome(LB);Peutz-Jeghers syndrome(US);Peutz-Jeghers syndrome(LB);Hereditary cancer-predisposing syndrome(LB);not provided(B) 12/23/2017 -21.54 2 BLB 3 182880 Simple 730881961 T . CI 1 5 not specified(B);Hereditary cancer-predisposing syndrome(LB);not specified(US);Peutz-Jeghers syndrome(LB);Hereditary cancer-predisposing syndrome(LB) 12/29/2017 -13.17 2 BLB 3 182882 Simple 532889728 A . CI 1 5 not specified(B);Hereditary cancer-predisposing syndrome(LB);Peutz-Jeghers syndrome(US);Peutz-Jeghers syndrome(LB);Hereditary cancer-predisposing syndrome(US) 12/28/2017 -10.5 1.6 BLB 3 182935 Simple 730882005 T . CI 1 3 not specified(US);Hereditary cancer-predisposing syndrome(P);Li-Fraumeni syndrome(LP) 10/9/2017 8.7 0.666666667 PLP 3 182945 Simple 202217267 A . CI 1 5 not specified(B);Li-Fraumeni syndrome(LB);Li-Fraumeni syndrome 1(US);not specified(LB);Hereditary cancer-predisposing syndrome(LB) 12/28/2017 -13.77 1.6 BLB 3 183067 Simple 56173896 T . CI 1 3 Gorlin syndrome(B);not specified(LB);Hereditary cancer-predisposing syndrome(US) 12/18/2017 -9.3 0.666666667 BLB 3 183072 Simple 730882130 C . CI 1 5 Hereditary nonpolyposis colon cancer(LB);Hereditary cancer-predisposing syndrome(LB);Lynch syndrome(US);not specified(LB);Hereditary cancer-predisposing syndrome(LB) 10/14/2017 -11.7 1.2 BLB 3 183083 Simple 730882078 T . CI 1 8 Familial hypercholesterolemia(LP);Familial hypercholesterolemia(US);Familial hypercholesterolemia(LP);Familial hypercholesterolemia(LP);Familial hypercholesterolemia(US);Familial hypercholesterolemia(US);Early-onset coronary artery disease(P);Familial hypercholesterolemia(US) 12/16/2016 13.62 1.625 PLP 3 183097 Simple 148698650 A . CI 1 10 Familial hypercholesterolemia(LB);Familial hypercholesterolemia(B);Familial hypercholesterolemia(LB);Familial hypercholesterolemia(US);Familial hypercholesterolemia(B);Familial hypercholesterolemia(US);Familial hypercholesterolemia(P);Familial hypercholesterolemia(US);not specified(LB);Familial hypercholesterolemia(US) 12/29/2017 -15.51 1.4 BLB 3 183105 Simple 544453230 A . CI 1 6 not specified(US);Familial hypercholesterolemia(LP);Familial hypercholesterolemia(LB);Familial hypercholesterolemia(P);Familial hypercholesterolemia(LP);Familial hypercholesterolemia(LP) 8/14/2017 10.8 1.333333333 PLP 3 183106 Simple 730882096 A . CI 1 10 Familial hypercholesterolemia(LP);Familial hypercholesterolemia(US);Familial hypercholesterolemia(LP);Familial hypercholesterolemia(P);Familial hypercholesterolemia(US);Familial hypercholesterolemia(US);not provided(LP);Familial hypercholesterolemias(P);Familial hypercholesterolemia(LP);Familial hypercholesterolemia(US) 12/4/2017 22.62 1.3 P 3 183116 Simple 730882102 T . CI 1 6 not provided(P);Familial hypercholesterolemia(LP);Familial hypercholesterolemia(LB);Familial hypercholesterolemia(LP);Familial hypercholesterolemia(LP);Familial hypercholesterolemia(LP) 11/21/2017 14.7 0.833333333 P 3 183120 Simple 730882106 T . CI 1 5 Familial hypercholesterolemia(LP);Familial hypercholesterolemia(LP);not specified(US);Familial hypercholesterolemia(P);Familial hypercholesterolemia(P) 5/29/2017 17.43 1.4 P 3 183138 Simple 11669576 A . CI 1 11 Familial hypercholesterolemia(B);Familial hypercholesterolemia(B);Familial hypercholesterolemia(LB);Familial hypercholesterolemia(B);not specified(B);Familial hypercholesterolemia(B);Familial hypercholesterolemia(B);Familial hypercholesterolemia(LB);Familial hypercholesterolemia(B);not specified(LB);Familial hypercholesterolemia(B) 8/18/2017 -55.2 1.090909091 B 3 183253 Simple 6533526 A . CI 1 7 "Cataract(B);Anterior segment mesenchymal dysgenesis(B);PITX2-Related Eye Abnormalities(B);Ring dermoid of cornea(B);Axenfeld-Rieger Syndrome(B);Iridogoniodysgenesis, dominant type(B);Irido-corneo-trabecular dysgenesis(B)" 6/14/2016 -42 1 B 3 183719 Simple 369853630 A . CI 1 6 Hereditary nonpolyposis colon cancer(LB);Lynch syndrome I(US);not specified(LB);not specified(US);Hereditary cancer-predisposing syndrome(LB);Hereditary cancer-predisposing syndrome(LB) 1/24/2018 -12.27 1 BLB 3 183729 Simple 63750600 G . CI 1 5 Hereditary cancer-predisposing syndrome(LB);Lynch syndrome(US);not specified(LB);Hereditary nonpolyposis colon cancer(LB);Hereditary cancer-predisposing syndrome(LB) 1/24/2018 -11.4 1.2 BLB 3 183739 Simple 786201050 GG . CI 1 6 Hereditary cancer-predisposing syndrome(P);Hereditary nonpolyposis colon cancer(P);not provided(P);Lynch syndrome(US);Hereditary cancer-predisposing syndrome(P);Lynch syndrome(P) 10/10/2017 29.7 0.833333333 P 3 183751 Simple 144378484 G . CI 1 6 Cardiovascular phenotype(LB);Juvenile polyposis syndrome(US);Juvenile polyposis syndrome(LB);not specified(B);Hereditary cancer-predisposing syndrome(LB);not provided(LB) 12/24/2017 -16.2 1.666666667 BLB 3 183754 Simple 773807182 G . CI 1 4 Hereditary cancer-predisposing syndrome(LB);not specified(US);Hereditary nonpolyposis colon cancer(LB);Hereditary cancer-predisposing syndrome(B) 12/21/2017 -11.67 1.5 BLB 3 183760 Simple 750528093 C . CI 1 5 Hereditary cancer-predisposing syndrome(LP);not provided(LP);Lynch syndrome(LP);Hereditary nonpolyposis colon cancer(LP);Hereditary cancer-predisposing syndrome(LP) 9/15/2017 14.1 1.4 PLP 3 183769 Simple 370000575 C . CI 1 5 Hereditary cancer-predisposing syndrome(LB);Familial cancer of breast(US);Neoplasm of the breast(US);not specified(B);Hereditary cancer-predisposing syndrome(LB) 12/24/2017 -10.5 1.8 BLB 3 183787 Simple 74318065 G . CI 1 7 Hereditary cancer-predisposing syndrome(B);not specified(B);not specified(B);MYH-associated polyposis(B);not specified(US);not specified(B);Hereditary cancer-predisposing syndrome(B) 1/9/2018 -32.61 2.142857143 B 3 183841 Simple 771378101 G . CI 1 4 Hereditary cancer-predisposing syndrome(LB);not specified(LB);Ataxia-telangiectasia syndrome(US);Hereditary cancer-predisposing syndrome(LB) 10/21/2017 -8.4 1.5 BLB 3 183842 Simple 149450874 A . CI 1 5 Hereditary cancer-predisposing syndrome(LB);Hereditary diffuse gastric cancer(LB);Hereditary diffuse gastric cancer(US);not specified(B);Hereditary cancer-predisposing syndrome(LB) 12/22/2017 -13.2 1.8 BLB 3 183900 Simple 754143182 A . CI 1 6 Hereditary cancer-predisposing syndrome(LB);Hereditary diffuse gastric cancer(LB);Hereditary diffuse gastric cancer(US);Hereditary diffuse gastric cancer(LB);not specified(LB);Hereditary cancer-predisposing syndrome(LB) 2/9/2018 -14.1 1.333333333 BLB 3 183917 Simple 770992427 T . CI 1 5 Hereditary cancer-predisposing syndrome(LB);not specified(US);Hereditary nonpolyposis colon cancer(LB);not specified(LB);not provided(US) 12/19/2017 -8.94 1.4 BLB 3 183922 Simple 756160533 T . CI 1 5 Hereditary cancer-predisposing syndrome(LB);Ataxia-telangiectasia syndrome(US);not specified(LB);Hereditary cancer-predisposing syndrome(LB);Ataxia-telangiectasia syndrome(LB) 9/2/2017 -11.7 1 BLB 3 183930 Simple 758102180 T . CI 1 5 Hereditary cancer-predisposing syndrome(LB);Familial cancer of breast(LB);Familial cancer of breast(LB);not specified(US);Hereditary cancer-predisposing syndrome(LB) 1/3/2018 -11.7 1 BLB 3 183952 Simple 568171603 A . CI 1 4 Hereditary cancer-predisposing syndrome(US);Li-Fraumeni syndrome(LB);Li-Fraumeni syndrome 1(LB);not specified(LB) 7/3/2016 -8.67 1.75 BLB 3 183986 Simple 374335608 G . CI 1 6 "Hereditary cancer-predisposing syndrome(LB);Familial cancer of breast(LB);Fanconi anemia, complementation group J(LB);Neoplasm of the breast(US);Fanconi anemia(US);not specified(LB);not provided(US)" 11/14/2017 -9 1.333333333 BLB 3 184008 Simple 202228407 G . CI 1 9 "Hereditary cancer-predisposing syndrome(LB);Familial cancer of breast(B);Fanconi anemia, complementation group J(B);Fanconi anemia(US);Neoplasm of the breast(US);Fanconi anemia, complementation group J(LB);Neoplasm of ovary(LB);not specified(LB);Hereditary cancer-predisposing syndrome(B);not provided(B)" 1/11/2018 -29.4 1.222222222 B 3 184026 Simple 767565606 T . CI 1 5 Hereditary cancer-predisposing syndrome(LB);Peutz-Jeghers syndrome(US);not specified(LB);not specified(US);Hereditary cancer-predisposing syndrome(LB) 12/1/2017 -8.7 1.2 BLB 3 184044 Simple 774100153 T . CI 1 4 Hereditary cancer-predisposing syndrome(LB);Hereditary cancer-predisposing syndrome(LB);Peutz-Jeghers syndrome(LB);not specified(US) 12/27/2017 -8.4 1.25 BLB 3 184058 Simple 10512435 C . CI 1 10 "Caf??-au-lait macules with pulmonary stenosis(LB);Neurofibromatosis, type 1(LB);Neurofibromatosis-Noonan syndrome(LB);Neurofibromatosis, familial spinal(LB);not specified(B);Neurofibromatosis, type 1(B);Hereditary cancer-predisposing syndrome(B);not specified(B);not specified(B);not provided(B)" 1/17/2018 -44.4 1.5 B 3 184069 Simple 766505270 T . CI 1 5 Hereditary cancer-predisposing syndrome(LB);Hereditary diffuse gastric cancer(LB);Hereditary diffuse gastric cancer(US);not specified(LB);Hereditary cancer-predisposing syndrome(LB) 12/19/2017 -11.7 1 BLB 3 184082 Simple 757020188 G . CI 1 5 Hereditary cancer-predisposing syndrome(LB);Familial adenomatous polyposis 1(US);Familial adenomatous polyposis 1(LB);Hereditary cancer-predisposing syndrome(LB);not specified(B) 1/9/2018 -13.8 1.6 BLB 3 184100 Simple 786201277 G . CI 1 4 Hereditary cancer-predisposing syndrome(LB);APC-Associated Polyposis Disorders(US);not specified(LB);Familial adenomatous polyposis 1(LB) 12/29/2017 -8.4 1.5 BLB 3 184102 Simple 201412035 A . CI 1 4 Hereditary cancer-predisposing syndrome(LB);MYH-associated polyposis(LB);MYH-associated polyposis(US);Hereditary cancer-predisposing syndrome(LB) 12/4/2017 -8.7 1.25 BLB 3 184112 Simple 1800369 A . CI 1 6 Hereditary cancer-predisposing syndrome(LB);Li-Fraumeni syndrome(B);Li-Fraumeni syndrome(US);not specified(B);Hereditary cancer-predisposing syndrome(LB);not provided(B) 12/20/2017 -22.8 1.333333333 BLB 3 184133 Simple 142712751 C . CI 1 11 "Hereditary cancer-predisposing syndrome(LB);Neurofibromatosis, type 1(B);not specified(B);Tumor susceptibility linked to germline BAP1 mutations(LB);Neurofibromatosis, type 1(US);Caf??-au-lait macules with pulmonary stenosis(US);Neurofibromatosis, familial spinal(US);Neurofibromatosis-Noonan syndrome(US);not specified(LB);not specified(LB);not specified(B)" 1/9/2018 -30 1.090909091 B 3 184138 Simple 374936223 T . CI 1 4 Hereditary cancer-predisposing syndrome(US);not specified(LB);not specified(US);Tuberous sclerosis 2(B) 1/12/2018 -9.3 0.75 BLB 3 184147 Simple 761326128 C . CI 1 6 Hereditary cancer-predisposing syndrome(LB);Familial adenomatous polyposis 1(LB);APC-Associated Polyposis Disorders(US);Familial adenomatous polyposis 1(LB);Hereditary cancer-predisposing syndrome(LB);not specified(LB) 11/28/2017 -15 0.833333333 BLB 3 184154 Simple 55865524 G . CI 1 4 "Hereditary cancer-predisposing syndrome(LB);Neurofibromatosis, type 1(B);not specified(LB);not specified(LB)" 2/8/2018 -14.1 1.25 BLB 3 184164 Simple 147196739 A . CI 1 5 Hereditary cancer-predisposing syndrome(LB);not specified(LB);Tuberous sclerosis 2(B);not specified(LB);Tuberous sclerosis syndrome(US) 1/10/2018 -15.3 0.4 BLB 3 184207 Simple 730881763 G . CI 1 4 Hereditary cancer-predisposing syndrome(LB);Hereditary nonpolyposis colon cancer(LB);Hereditary cancer-predisposing syndrome(LB);not specified(US) 11/11/2017 -8.4 1.25 BLB 3 184237 Simple 756121647 T . CI 1 4 Hereditary cancer-predisposing syndrome(LB);Tuberous sclerosis 2(B);Tuberous sclerosis syndrome(US);not specified(LB) 12/26/2017 -11.7 1 BLB 3 184293 Simple 374431061 T . CI 1 5 Hereditary cancer-predisposing syndrome(LB);not specified(US);not specified(LB);Ataxia-telangiectasia syndrome(LB);Hereditary cancer-predisposing syndrome(LB) 1/13/2018 -11.37 1.4 BLB 3 184320 Simple 138186428 T . CI 1 6 "Hereditary cancer-predisposing syndrome(LB);Neurofibromatosis, type 1(B);not specified(LB);not provided(LB);not provided(B);not specified(LB)" 2/20/2018 -23.4 0.833333333 BLB 3 184395 Simple 45528833 C . CI 1 4 "Hereditary cancer-predisposing syndrome(LB);not specified(US);Familial cancer of breast(LB);Fanconi anemia, complementation group J(LB);Hereditary cancer-predisposing syndrome(LB)" 12/21/2017 -8.64 1.75 BLB 3 184460 Simple 371581213 A . CI 1 7 "Hereditary cancer-predisposing syndrome(LB);Neurofibromatosis-Noonan syndrome(US);Neurofibromatosis, type 1(US);Neurofibromatosis, familial spinal(US);Caf??-au-lait macules with pulmonary stenosis(US);Neurofibromatosis, type 1(LB);not specified(LB)" 12/24/2017 -9.6 1 BLB 3 184492 Simple 150309802 G . CI 1 7 "Hereditary cancer-predisposing syndrome(LB);Neurofibromatosis, type 1(LB);Caf??-au-lait macules with pulmonary stenosis(US);Neurofibromatosis, type 1(US);Neurofibromatosis, familial spinal(US);Neurofibromatosis-Noonan syndrome(US);not specified(LB)" 12/27/2017 -9.6 1 BLB 3 184530 Simple 3136351 A . CI 1 5 Hereditary cancer-predisposing syndrome(LB);not specified(US);Hereditary nonpolyposis colon cancer(B);Hereditary nonpolyposis colorectal cancer type 5(LB);Hereditary cancer-predisposing syndrome(LB) 1/10/2018 -14.04 2 BLB 3 184533 Simple 142636150 C . CI 1 9 "Hereditary cancer-predisposing syndrome(LB);Neurofibromatosis, type 1(B);not specified(LB);Caf??-au-lait macules with pulmonary stenosis(US);Neurofibromatosis, familial spinal(US);Neurofibromatosis-Noonan syndrome(US);Neurofibromatosis, type 1(US);not specified(LB);not specified(LB)" 1/9/2018 -18.6 0.888888889 BLB 3 184540 Simple 786201524 G . CI 1 4 Hereditary cancer-predisposing syndrome(LB);Familial adenomatous polyposis 1(US);not specified(LB);Hereditary cancer-predisposing syndrome(LB) 12/8/2017 -9 0.75 BLB 3 184547 Simple 780747266 A . CI 1 6 Hereditary cancer-predisposing syndrome(LB);MYH-associated polyposis(LB);MYH-associated polyposis(LB);not specified(US);Hereditary cancer-predisposing syndrome(LB);not specified(B) 11/15/2017 -16.5 1.5 BLB 3 184583 Simple 151168457 T . CI 1 5 Hereditary cancer-predisposing syndrome(LB);Familial cancer of breast(B);not specified(US);Hereditary cancer-predisposing syndrome(US);not provided(LB) 1/6/2018 -12 1.2 BLB 3 184594 Simple 144091165 G . CI 1 7 "Hereditary cancer-predisposing syndrome(LB);Neurofibromatosis, type 1(LB);Neurofibromatosis, familial spinal(US);Neurofibromatosis, type 1(US);Caf??-au-lait macules with pulmonary stenosis(US);Neurofibromatosis-Noonan syndrome(US);not specified(LB)" 2/9/2018 -9.6 1 BLB 3 184644 Simple 368928783 A . CI 1 7 Hereditary cancer-predisposing syndrome(LB);Hereditary nonpolyposis colon cancer(LB);Lynch syndrome(US);not specified(B);not specified(LB);Hereditary cancer-predisposing syndrome(LB);not provided(US) 12/25/2017 -17.4 1.142857143 BLB 3 184654 Simple 771993728 T . CI 1 4 Hereditary cancer-predisposing syndrome(LB);Hereditary diffuse gastric cancer(US);Hereditary diffuse gastric cancer(LB);not specified(LB) 10/3/2017 -9 1 BLB 3 184661 Simple 769364808 A . CI 1 7 Hereditary cancer-predisposing syndrome(LB);Hereditary nonpolyposis colon cancer(LB);Lynch syndrome(US);Lynch syndrome II(LB);not specified(B);Hereditary cancer-predisposing syndrome(LB);not provided(US) 7/25/2017 -16.77 1.714285714 BLB 3 184691 Simple 537906142 A . CI 1 4 Hereditary cancer-predisposing syndrome(LB);not specified(US);Peutz-Jeghers syndrome(B);not provided(B) 12/30/2017 -14.67 1.5 BLB 3 184708 Simple 141749524 C . CI 1 6 Hereditary cancer-predisposing syndrome(LB);Familial cancer of breast(LB);Familial cancer of breast(US);not specified(US);Hereditary cancer-predisposing syndrome(LB);Fanconi anemia(LB) 11/1/2017 -12.54 1 BLB 3 184830 Simple 757145884 A . CI 1 7 Hereditary cancer-predisposing syndrome(LB);Familial cancer of breast(LB);Hereditary cancer-predisposing syndrome(US);Fanconi anemia(US);Hereditary cancer-predisposing syndrome(LB);not provided(US);not specified(B) 12/30/2017 -13.77 1.714285714 BLB 3 185424 Simple 112902065 T . CI 1 3 Hereditary cancer-predisposing syndrome(B);Hereditary nonpolyposis colon cancer(US);not specified(LB) 12/29/2017 -9.3 0.666666667 BLB 3 185538 Simple 552752779 G . CI 1 7 "Hereditary cancer-predisposing syndrome(US);Familial cancer of breast(US);Fanconi anemia, complementation group J(US);Fanconi anemia(US);Neoplasm of the breast(US);not specified(B);not specified(US);not provided(B)" 7/19/2017 -12.9 1 BLB 3 185547 Simple 200726484 A . CI 1 5 Hereditary cancer-predisposing syndrome(LB);not specified(LB);Hereditary nonpolyposis colon cancer(US);Hereditary cancer-predisposing syndrome(LB);not provided(US) 3/8/2018 -9.6 0.2 BLB 3 185640 Simple 786202334 A . CI 1 4 Hereditary cancer-predisposing syndrome(LB);Hereditary nonpolyposis colon cancer(US);not specified(LB);Hereditary cancer-predisposing syndrome(LB) 3/2/2018 -8.7 1 BLB 3 185705 Simple 80356913 A . CI 1 2 "Hereditary cancer-predisposing syndrome(LP);Breast-ovarian cancer, familial 1(P)" 6/26/2017 8.4 1 PLP 3 185872 Simple 786202524 C . CI 1 4 Hereditary cancer-predisposing syndrome(LB);Familial cancer of breast(US);Hereditary cancer-predisposing syndrome(LB);not specified(LB) 9/14/2017 -8.7 0.75 BLB 3 185874 Simple 776805501 G . CI 1 4 Hereditary cancer-predisposing syndrome(LB);Hereditary diffuse gastric cancer(US);Hereditary cancer-predisposing syndrome(LB);not specified(LB) 1/19/2018 -8.7 1 BLB 3 186003 Simple 55754907 T . CI 1 4 Hereditary cancer-predisposing syndrome(LB);Li-Fraumeni syndrome(US);not specified(LB);Hereditary cancer-predisposing syndrome(LB) 2/2/2018 -8.7 0.75 BLB 3 186046 Simple 199643502 C . CI 1 4 Hereditary cancer-predisposing syndrome(LB);Hereditary nonpolyposis colorectal cancer type 5(LB);Hereditary nonpolyposis colon cancer(US);Hereditary cancer-predisposing syndrome(LB) 12/27/2017 -8.7 1.25 BLB 3 186120 Simple 200937538 A . CI 1 4 Hereditary cancer-predisposing syndrome(LB);not specified(LB);Familial cancer of breast(US);Hereditary cancer-predisposing syndrome(LB) 12/20/2017 -8.4 1.5 BLB 3 186204 Simple 786202772 T . CI 1 7 Hereditary cancer-predisposing syndrome(LB);Hereditary nonpolyposis colon cancer(B);Lynch syndrome(US);Hereditary nonpolyposis colorectal cancer type 5(LB);Hereditary cancer-predisposing syndrome(LB);not provided(US);not specified(LB) 1/5/2018 -17.4 1.285714286 BLB 3 186320 Simple 377185303 C . CI 1 3 Hereditary cancer-predisposing syndrome(US);not specified(LB);Tuberous sclerosis 1(B) 11/16/2017 -9 1 BLB 3 186642 Simple 753646931 C . CI 1 7 Hereditary cancer-predisposing syndrome(LB);Ataxia-telangiectasia syndrome(LB);Ataxia-telangiectasia syndrome(US);not specified(B);not specified(LB);Hereditary cancer-predisposing syndrome(LB);not provided(LB) 12/24/2017 -19.2 1.571428571 BLB 3 186782 Simple 756653022 A . CI 1 4 "Hereditary cancer-predisposing syndrome(LB);not specified(LB);Neurofibromatosis, type 1(US);not specified(LB)" 1/11/2018 -8.4 1.25 BLB 3 186825 Simple 786203249 C . CI 1 6 "Hereditary cancer-predisposing syndrome(LB);Fanconi anemia, complementation group O(LB);Breast and Ovarian Cancer Susceptibility(US);Fanconi anemia(US);not specified(LB);Hereditary cancer-predisposing syndrome(LB)" 11/8/2017 -12 1 BLB 3 187451 Simple 786203744 G . CI 1 4 Hereditary cancer-predisposing syndrome(LB);Hereditary nonpolyposis colon cancer(US);Hereditary cancer-predisposing syndrome(LB);not specified(LB) 9/7/2017 -8.4 1.5 BLB 3 188084 Simple 75430389 C . CI 1 4 "Spastic paraplegia 11, autosomal recessive(B);Spastic Paraplegia, Recessive(US);not provided(LB);not specified(LB)" 11/9/2017 -12.3 0.5 BLB 3 188231 Simple 140824939 C . CI 1 5 "Spastic paraplegia 11, autosomal recessive(LB);not specified(US);not specified(LB);Spastic paraplegia 11, autosomal recessive(B);Spastic paraplegia 11, autosomal recessive(LB)" 12/27/2017 -13.74 1.6 BLB 3 188332 Simple 139334167 A . CI 1 4 "Spastic paraplegia 11, autosomal recessive(B);not specified(US);not specified(US);not specified(LB)" 12/30/2017 -9.6 0.75 BLB 3 188358 Simple 199771406 A . CI 1 4 "Renal cell carcinoma, papillary, 1(B);Renal cell carcinoma, papillary, 1(LB);Hereditary cancer-predisposing syndrome(US);not specified(LB)" 2/1/2018 -12.3 0.5 BLB 3 188365 Simple 115776799 G . CI 1 3 Ciliary dyskinesia(B);not specified(B);Ciliary dyskinesia(US) 12/6/2017 -11.1 1.333333333 BLB 3 188374 Simple 2233328 G . CI 1 3 "Charcot-Marie-Tooth disease, type IV(B);Charcot-Marie-Tooth, Type 4(US);not specified(LB)" 1/6/2018 -9.3 0.666666667 BLB 3 188381 Simple 35512910 A . CI 1 4 "Spastic paraplegia(B);Spastic Paraplegia, Recessive(US);not specified(LB);not specified(LB)" 12/13/2017 -12.3 0.5 BLB 3 188396 Simple 144693221 A . CI 1 5 "Charcot-Marie-Tooth disease, type IV(LB);not specified(LB);Charcot-Marie-Tooth, Type 4(US);not specified(LB);not specified(LB)" 12/26/2017 -12 0.8 BLB 3 188400 Simple 386834043 . . CI 1 4 Joubert syndrome(P);Meckel-Gruber syndrome(P);Joubert syndrome(P);not provided(P);Meckel syndrome type 1(P) 8/24/2017 24 0.75 P 3 188472 Simple 181378432 T . CI 1 3 "not specified(US);not specified(LB);Dilated cardiomyopathy with woolly hair and keratoderma(B);Arrhythmogenic right ventricular cardiomyopathy, type 8(B)" 11/18/2017 -8.58 2.666666667 BLB 3 188473 Simple 141709096 A . CI 1 8 "not specified(US);Epidermolysis bullosa, lethal acantholytic(US);Ectodermal dysplasia skin fragility syndrome(US);Skin fragility woolly hair syndrome(US);Cardiomyopathy, ARVC(US);Dilated cardiomyopathy with woolly hair and keratoderma(LB);Arrhythmogenic right ventricular cardiomyopathy, type 8(LB);not specified(LB);Cardiovascular phenotype(LB)" 1/4/2018 -9.51 1.625 BLB 3 188476 Simple 113085339 G . CI 1 4 "not specified(US);not specified(LB);not specified(LB);Glycogen storage disease, type II(LB)" 12/28/2017 -8.94 1.25 BLB 3 188538 Simple 200713257 A . CI 1 3 not specified(US);Hypertrophic cardiomyopathy(B);Cardiovascular phenotype(LB) 8/7/2017 -8.91 2 BLB 3 188571 Simple 370530334 T . CI 1 3 not specified(US);not specified(LB);Hypertrophic cardiomyopathy(B) 11/20/2017 -8.85 2.666666667 BLB 3 188579 Simple 36212064 A . CI 1 5 not specified(B);not specified(US);not specified(LB);Cardiovascular phenotype(LB);Hypertrophic cardiomyopathy(US) 12/12/2017 -10.74 1.6 BLB 3 188630 Simple 150292548 G . CI 1 4 not specified(US);not specified(LB);Hypertrophic cardiomyopathy(LB);not specified(LB) 2/12/2018 -8.91 1.5 BLB 3 188677 Simple 375447438 A . CI 1 5 "not specified(US);Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome(LB);Dilated Cardiomyopathy, Recessive(LB);Hypertrophic cardiomyopathy(LB);Familial restrictive cardiomyopathy(LB)" 6/14/2016 -12.15 2 BLB 3 189296 Simple 793888517 C . CI 1 6 Familial hypercholesterolemia(P);Familial hypercholesterolemia(LP);Familial hypercholesterolemia(P);Familial hypercholesterolemia(P);Familial hypercholesterolemia(P);not provided(P) 2/22/2018 32.1 0.833333333 P 3 189298 Simple 146651743 A . CI 1 3 Familial hypercholesterolemia(P);Familial hypercholesterolemia(P);Familial hypercholesterolemia(P) 11/5/2016 16.8 1.666666667 P 3 189300 Simple 1801696 T . CI 1 6 "Familial hypercholesterolemia(US);not specified(B);Hypercholesterolemia, autosomal dominant, type B(B);Hypobetalipoproteinemia, familial, 1(B);not specified(US);Familial hypercholesterolemia(LB);not specified(LB)" 1/5/2018 -17.94 1 BLB 3 190129 Simple 147232392 T . CI 1 6 "VACTERL association with hydrocephaly, X-linked(P);Heterotaxy, visceral, X-linked(B);Congenital heart defects 1, nonsyndromic, 1(LB);Heterotaxy, visceral, X-linked(LB);VACTERL association with hydrocephaly, X-linked(LB);not specified(LB)" 6/14/2016 -12.6 1.5 BLB 3 190151 Simple 116373975 A . CI 1 7 not specified(US);not specified(US);Cockayne syndrome(LB);Macular degeneration(LB);Cerebrooculofacioskeletal Syndrome(LB);not specified(US);DE SANCTIS-CACCHIONE SYNDROME(US);Cerebro-oculo-facio-skeletal syndrome(US);Cockayne syndrome B(US);Lung cancer(US);UV-sensitive syndrome(US);Age-related macular degeneration 5(US);Premature ovarian failure 11(US) 5/23/2017 -10.08 1.571428571 BLB 3 190156 Simple 61760163 A . CI 1 8 not specified(US);not specified(US);not specified(US);Macular degeneration(LB);Cerebrooculofacioskeletal Syndrome(LB);Cockayne syndrome(LB);not specified(US);DE SANCTIS-CACCHIONE SYNDROME(US);Cerebro-oculo-facio-skeletal syndrome(US);Cockayne syndrome B(US);Lung cancer(US);UV-sensitive syndrome(US);Age-related macular degeneration 5(US);Premature ovarian failure 11(US) 5/23/2017 -10.29 1.875 BLB 3 190164 Simple 139007661 G . CI 1 8 not specified(US);not specified(US);not specified(US);Cerebrooculofacioskeletal Syndrome(LB);Cockayne syndrome(LB);Macular degeneration(LB);not specified(US);DE SANCTIS-CACCHIONE SYNDROME(US);Cerebro-oculo-facio-skeletal syndrome(US);Cockayne syndrome B(US);Lung cancer(US);UV-sensitive syndrome(US);Age-related macular degeneration 5(US);Premature ovarian failure 11(US) 5/23/2017 -10.29 1.875 BLB 3 190174 Simple 150935953 A . CI 1 5 not specified(US);not specified(US);Cerebrooculofacioskeletal Syndrome(LB);Macular degeneration(LB);Cockayne syndrome(LB) 6/14/2016 -9.45 2 BLB 3 190186 Simple 372021340 A . CI 1 3 "Periventricular nodular heterotopia 1(US);Periventricular nodular heterotopia 1(B);Melnick-Needles syndrome(B);Oto-palato-digital syndrome, type II(B);Frontometaphyseal dysplasia(B);not specified(LB)" 5/16/2017 -9.18 2.333333333 BLB 3 190194 Simple 200130356 C . CI 1 8 "Periventricular nodular heterotopia 1(US);not specified(B);not specified(LB);not specified(B);Periventricular nodular heterotopia 1(B);Melnick-Needles syndrome(B);Oto-palato-digital syndrome, type II(B);Frontometaphyseal dysplasia(B);not specified(LB);not specified(LB);Cardiovascular phenotype(B)" 10/19/2017 -32.58 1.25 B 3 190510 Simple 140470576 A . CI 1 6 not provided(LB);Long QT syndrome(B);Romano-Ward syndrome(US);Long QT syndrome(US);Cardiovascular phenotype(LB);Long QT syndrome 11(LB) 6/20/2017 -14.7 1.333333333 BLB 3 190514 Simple 139046510 T . CI 1 7 not specified(LB);not provided(LB);Cardiovascular phenotype(LB);Romano-Ward syndrome(US);Long QT syndrome(US);Long QT syndrome(LB);Long QT syndrome 11(LB) 2/28/2018 -12.9 2 BLB 3 190518 Simple 144888041 C . CI 1 8 not specified(US);not provided(LB);Long QT syndrome(B);Cardiovascular phenotype(LB);Long QT syndrome(US);Romano-Ward syndrome(US);Brugada syndrome 1(B);Long QT syndrome 11(LB) 12/12/2017 -20.85 1.75 BLB 3 190540 Simple 150226540 A . CI 1 5 not specified(LB);not provided(LB);Long QT syndrome(US);Long QT syndrome(B);Cardiovascular phenotype(B) 1/23/2018 -17.4 1 BLB 3 190631 Simple 201756421 C . CI 1 8 not specified(US);not provided(LB);not specified(US);Long QT syndrome(LB);Cardiovascular phenotype(US);Timothy syndrome(LB);Brugada syndrome(LB);not provided(LB) 1/5/2018 -15 1.125 BLB 3 190730 Simple 137886839 T . CI 1 5 not specified(LB);Cardiovascular phenotype(B);Brugada syndrome(US);Brugada syndrome 4(B);Brugada syndrome 4(B) 10/13/2017 -21.3 0.6 BLB 3 190731 Simple 202218948 A . CI 1 4 not specified(B);not provided(US);Brugada syndrome 4(B);not provided(LB) 3/9/2018 -15.21 1.25 BLB 3 190772 Simple 62641689 T . CI 1 7 not specified(B);not provided(LB);not specified(B);Sudden cardiac death(LP);Brugada syndrome 8(B);not specified(LB);Cardiovascular phenotype(LB) 12/29/2017 -22.5 1.571428571 BLB 3 190804 Simple 141069645 G . CI 1 7 not specified(LB);Andersen Tawil syndrome(LB);Familial atrial fibrillation(LB);short QT syndrome(LB);Andersen Tawil syndrome(LB);Short QT syndrome 3(LB);not specified(US);Cardiovascular phenotype(LB) 12/26/2017 -18.3 0.714285714 BLB 3 190847 Simple 66876876 A . CI 1 10 "Brugada syndrome 5(B);not specified(LB);not provided(LB);not specified(B);Atrial fibrillation, familial, 13(US);Brugada syndrome 5(US);Epileptic encephalopathy, early infantile, 52(US);Generalized epilepsy with febrile seizures plus, type 1(US);not specified(LB);not provided(US)" 1/26/2018 -21.81 0.8 BLB 3 190869 Simple 72552027 A . CI 1 9 "not specified(LB);Cardiovascular phenotype(LB);not specified(LB);Cardiac conduction defect, nonspecific(LB);Generalized epilepsy with febrile seizures plus(LB);Brugada syndrome(LB);not specified(US);Brugada syndrome 5(B);not provided(LB)" 1/5/2018 -27 0.777777778 B 3 190877 Simple 150721582 A . CI 1 4 not specified(LB);Cardiovascular phenotype(LB);not specified(US);Brugada syndrome 5(LB) 11/9/2017 -9.27 0.5 BLB 3 190890 Simple 149868494 T . CI 1 4 not specified(LB);not provided(US);not provided(B);Cardiovascular phenotype(LB) 3/6/2017 -11.31 2.5 BLB 3 191238 Simple 786205598 T . CI 1 3 not provided(P);not specified(US);Early infantile epileptic encephalopathy 4(P) 10/16/2017 11.79 1.666666667 PLP 3 191312 Simple 2229813 T . CI 1 3 Alport syndrome(B);not specified(B);not specified(B) 5/9/2017 -17.4 1.333333333 BLB 3 191428 Simple 199694744 C . CI 1 5 not provided(US);Timothy syndrome(LB);Brugada syndrome(LB);Long QT syndrome(LB);Cardiovascular phenotype(LB) 11/7/2017 -12.21 1.2 BLB 3 191435 Simple 786205266 AGTAAGTA . CI 1 5 Cardiac arrhythmia(LB);not provided(US);Long QT syndrome(US);Brugada syndrome 4(LB);not provided(B) 12/21/2017 -11.25 2.6 BLB 3 191449 Simple 200507617 G . CI 1 4 not provided(US);Brugada syndrome 8(B);not specified(LB);Cardiovascular phenotype(LB) 1/12/2018 -12.21 1.25 BLB 3 191513 Simple 367857951 C . CI 1 5 not provided(LB);Long QT syndrome(LB);Long QT syndrome(US);Romano-Ward syndrome(US);Cardiovascular phenotype(LB) 3/7/2018 -8.7 1.2 BLB 3 191516 Simple 139612565 G . CI 1 5 not provided(LB);Cardiovascular phenotype(LB);Long QT syndrome(US);Romano-Ward syndrome(US);Long QT syndrome(LB) 2/8/2018 -8.7 1.2 BLB 3 191518 Simple 61757671 A . CI 1 6 not provided(LB);not specified(US);Cardiovascular phenotype(LB);Long QT syndrome(US);Romano-Ward syndrome(US);Long QT syndrome(LB) 10/10/2017 -8.94 1.5 BLB 3 191522 Simple 144875383 C . CI 1 5 not provided(LB);not specified(US);Cardiovascular phenotype(LB);Long QT syndrome(LB);Long QT syndrome 11(LB) 12/16/2017 -10.74 2 BLB 3 191527 Simple 144054367 G . CI 1 5 not provided(LB);Long QT syndrome(US);Romano-Ward syndrome(US);Long QT syndrome(LB);Cardiovascular phenotype(LB) 12/5/2017 -8.7 1.4 BLB 3 191535 Simple 138842207 A . CI 1 6 "not provided(LB);Cardiovascular phenotype(LB);Long QT syndrome(US);Long QT syndrome(LB);not specified(LB);Cardiac arrhythmia, ankyrin B-related(LB)" 12/21/2017 -14.1 1.333333333 BLB 3 191537 Simple 200765866 T . CI 1 7 "not provided(LB);Long QT syndrome(LB);Long QT syndrome(US);not specified(LB);not provided(LB);Cardiovascular phenotype(LB);Cardiac arrhythmia, ankyrin B-related(LB)" 12/5/2017 -17.4 1 BLB 3 191548 Simple 56157422 C . CI 1 5 Cardiovascular phenotype(LB);Long QT syndrome(LB);not specified(US);Long QT syndrome 12(LB);Long QT syndrome(LB) 1/30/2018 -11.4 1.2 BLB 3 191566 Simple 200231105 A . CI 1 7 not specified(B);Brugada syndrome(US);Brugada syndrome(US);Timothy syndrome(US);not specified(B);Cardiovascular phenotype(LB);Long QT syndrome(US) 1/3/2018 -13.74 1.571428571 BLB 3 191569 Simple 61733968 G . CI 1 5 not specified(B);Brugada syndrome 4(B);Brugada syndrome(US);Cardiovascular phenotype(B);Brugada syndrome 4(B) 12/29/2017 -21.3 1.8 BLB 3 191672 Simple 199826380 T . CI 1 4 "not provided(US);not specified(US);Naxos disease(LB);Arrhythmogenic right ventricular cardiomyopathy, type 12(LB);not provided(B)" 12/18/2017 -8.91 1.75 BLB 3 191702 Simple 17847242 A . CI 1 6 "not provided(US);Cardiovascular phenotype(LB);not specified(LB);not specified(LB);Charcot-Marie-Tooth disease, type 2(B);not specified(LB)" 11/13/2017 -17.01 1.833333333 BLB 3 191850 Simple 184078016 A . CI 1 4 "not provided(US);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(LB);Cardiovascular phenotype(LB)" 9/6/2017 -12.21 1.5 BLB 3 191875 Simple 185002960 T . CI 1 11 "not provided(US);not specified(B);not specified(B);not specified(B);Hypertrophic cardiomyopathy(LB);Distal myopathy Markesbery-Griggs type(LB);Hereditary myopathy with early respiratory failure(LB);Dilated Cardiomyopathy, Dominant(LB);Myopathy, early-onset, with fatal cardiomyopathy(LB);Limb-Girdle Muscular Dystrophy, Recessive(LB);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B)" 12/11/2017 -40.41 1.454545455 B 3 191880 Simple 201489661 T . CI 1 10 "not provided(US);not specified(LB);not specified(LB);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);Limb-Girdle Muscular Dystrophy, Recessive(US);Hereditary myopathy with early respiratory failure(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Hypertrophic cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Distal myopathy Markesbery-Griggs type(US)" 11/6/2017 -11.01 1 BLB 3 191899 Simple 140018785 T . CI 1 3 "not provided(US);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(LB)" 10/17/2017 -9.21 1.333333333 BLB 3 191903 Simple 56399205 G . CI 1 11 "not provided(US);not specified(LB);Cardiovascular phenotype(US);not specified(US);Hereditary myopathy with early respiratory failure(US);Distal myopathy Markesbery-Griggs type(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Hypertrophic cardiomyopathy(US);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB)" 12/27/2017 -8.49 1.454545455 BLB 3 191992 Simple 532102837 T . CI 1 10 "not provided(US);Cardiovascular phenotype(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Hypertrophic cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Hereditary myopathy with early respiratory failure(US);Distal myopathy Markesbery-Griggs type(US);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(B)" 12/27/2017 -14.19 1.6 BLB 3 192102 Simple 200342284 G . CI 1 4 not provided(US);not specified(LB);not specified(LB);Dilated cardiomyopathy 1W(B) 11/2/2017 -11.61 2 BLB 3 192106 Simple 150385900 C . CI 1 7 "not provided(US);not specified(LB);not specified(B);Cardiovascular phenotype(B);Dilated Cardiomyopathy, Dominant(US);Dilated cardiomyopathy 1W(B);not provided(B)" 1/19/2018 -26.91 1.285714286 B 3 192111 Simple 142943120 A . CI 1 8 "not provided(LB);not specified(LB);not specified(LB);Dilated cardiomyopathy 1AA(B);Primary familial hypertrophic cardiomyopathy(B);Dilated Cardiomyopathy, Dominant(US);Hypertrophic cardiomyopathy(US);Cardiovascular phenotype(LB);Primary familial hypertrophic cardiomyopathy(US)" 11/15/2017 -18 1 BLB 3 192113 Simple 34656239 T . CI 1 5 "not provided(LB);not specified(LB);Dilated Cardiomyopathy, Dominant(LB);Myofibrillar Myopathy, Dominant(LB);Myofibrillar myopathy, BAG3-related(LB);Dilated cardiomyopathy 1HH(LB)" 11/28/2017 -14.1 1.4 BLB 3 192125 Simple 150911078 A . CI 1 6 not provided(LB);not specified(US);not specified(LB);not specified(LB);Dilated cardiomyopathy 1KK(B);Cardiovascular phenotype(LB) 12/26/2017 -16.74 1.833333333 BLB 3 192128 Simple 140852019 C . CI 1 5 "not provided(LB);Cardiomyopathy, ARVC(US);not specified(LB);Cardiovascular phenotype(US);Arrhythmogenic right ventricular cardiomyopathy, type 9(LB)" 12/18/2017 -8.7 1.2 BLB 3 192133 Simple 141443652 T . CI 1 8 not specified(LB);not specified(LB);Loeys-Dietz syndrome 2(LB);Primary dilated cardiomyopathy(US);Cardiovascular phenotype(US);Dilated cardiomyopathy 1T(LB);Dilated cardiomyopathy 1T(LB);not provided(LB) 12/6/2017 -17.1 1.125 BLB 3 192135 Simple 199632397 G . CI 1 13 "not provided(LB);not specified(LB);not specified(US);Cardiovascular phenotype(US);not specified(LB);Distal myopathy Markesbery-Griggs type(US);Hypertrophic cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Dilated Cardiomyopathy, Dominant(US);Hereditary myopathy with early respiratory failure(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Dilated cardiomyopathy 1G(US);Limb-girdle muscular dystrophy, type 2J(US);Inborn genetic diseases(US)" 1/4/2018 -10.68 1.384615385 BLB 3 192143 Simple 180975448 A . CI 1 7 "not provided(LB);not specified(LB);not specified(US);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);Cardiovascular phenotype(US);not specified(US);not specified(US)" 2/7/2018 -9.12 2 BLB 3 192150 Simple 200697681 T . CI 1 4 "not provided(LB);not specified(US);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);not specified(LB)" 7/31/2017 -8.4 1.5 BLB 3 192153 Simple 56391938 C . CI 1 5 "not provided(LB);not specified(LB);not specified(US);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);not specified(US)" 1/17/2018 -8.61 1.8 BLB 3 192154 Simple 143186270 T . CI 1 5 "not provided(LB);not specified(LB);Cardiovascular phenotype(US);not specified(US);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB)" 12/8/2017 -8.58 2 BLB 3 192173 Simple 200840285 A . CI 1 3 "not provided(LB);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(B)" 1/5/2018 -14.1 1.666666667 BLB 3 192175 Simple 201418615 T . CI 1 5 "not provided(LB);not specified(US);not specified(US);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);not specified(LB)" 9/27/2017 -8.61 1.8 BLB 3 192181 Simple 71579375 G . CI 1 4 not provided(LB);Dilated cardiomyopathy 1W(LB);Cardiovascular phenotype(LB);not specified(US) 1/5/2018 -8.4 1.25 BLB 3 192223 Simple 141893001 C . CI 1 4 not specified(LB);Hereditary nonpolyposis colon cancer(B);Hereditary cancer-predisposing syndrome(B);not provided(US) 1/4/2018 -15 0.5 BLB 3 192261 Simple 552651651 T . CI 1 3 not specified(LB);Collagen VI-related myopathy(LB);Bethlem myopathy 1(B) 12/15/2017 -11.7 1 BLB 3 192262 Simple 182976977 C . CI 1 4 not specified(LB);Collagen VI-related myopathy(LB);not specified(LB);Bethlem myopathy 1(B) 12/11/2017 -15 0.5 BLB 3 193120 Simple 200092211 A . CI 1 7 "not specified(US);not specified(US);not specified(US);Episodic ataxia(LB);Juvenile myoclonic epilepsy(LB);Idiopathic generalized epilepsy(LB);Epilepsy, idiopathic generalized 9(US);Episodic ataxia, type 5(US)" 12/19/2017 -10.11 1.285714286 BLB 3 193171 Simple 148616993 A . CI 1 3 "not specified(B);Corneal fragility keratoglobus, blue sclerae AND joint hypermobility(US);not specified(B)" 10/19/2016 -11.1 1.666666667 BLB 3 193196 Simple 201713027 G . CI 1 5 not specified(B);not specified(LB);not specified(US);not specified(LB);Early infantile epileptic encephalopathy 9(LB) 1/24/2018 -15.27 0.8 BLB 3 193220 Simple 201255083 T . CI 1 6 not specified(US);not specified(LB);Cardiovascular phenotype(US);Congenital contractural arachnodactyly(LB);Congenital contractural arachnodactyly(LB);Congenital contractural arachnodactyly(LB) 11/17/2017 -12.48 1.5 BLB 3 193228 Simple 751901610 - . CI 1 4 not specified(B);Generalized epilepsy and paroxysmal dyskinesia(US);not provided(LB);Generalized epilepsy and paroxysmal dyskinesia(B) 10/27/2017 -14.1 1.25 BLB 3 193248 Simple 149642284 T . CI 1 4 not specified(US);not specified(B);Cardiovascular phenotype(LB);Shprintzen-Goldberg syndrome(B) 11/15/2017 -13.44 2.25 BLB 3 193249 Simple 756778048 T . CI 1 5 not specified(US);not specified(B);Shprintzen-Goldberg syndrome(LB);Cardiovascular phenotype(LB);not specified(LB) 12/23/2017 -13.77 1.6 BLB 3 193379 Simple 193922695 GGAGGAGGAGGA . CI 1 5 not specified(B);Alstrom syndrome(B);not provided(LB);Alstrom syndrome(US);not provided(LB) 1/4/2018 -16.8 1.4 BLB 3 193388 Simple 141340867 T . CI 1 4 not specified(B);Bardet-Biedl syndrome(US);not provided(LB);Bardet-Biedl syndrome(B) 11/24/2016 -14.1 1.5 BLB 3 193389 Simple 547125345 A . CI 1 5 not specified(LB);not specified(US);Neuronal ceroid lipofuscinosis(B);Ceroid lipofuscinosis neuronal 6(US);Adult neuronal ceroid lipofuscinosis(US);not specified(US) 10/4/2017 -9.9 0.6 BLB 3 193390 Simple 527373013 A . CI 1 4 "not specified(B);not specified(LB);Neuronal Ceroid-Lipofuscinosis, Recessive(US);Neuronal ceroid lipofuscinosis(B)" 1/5/2018 -15.3 0.5 BLB 3 193439 Simple 146152956 G . CI 1 3 "not specified(US);not specified(B);Early infantile epileptic encephalopathy 14(B);Epilepsy, nocturnal frontal lobe, 5(B)" 12/28/2017 -12.24 1.333333333 BLB 3 193453 Simple 555140661 G . CI 1 7 "Meacham syndrome(LB);Wilms Tumor(LB);Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome(LB);Diffuse mesangial sclerosis(LB);not specified(LB);not specified(US);Drash syndrome(B);Frasier syndrome(B);Wilms tumor 1(B);Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome(B)" 2/1/2018 -21.24 1 BLB 3 193496 Simple 549007670 GGCGGCGGCGGC . CI 1 5 "not specified(B);Spastic paraplegia 6(LB);Spastic Paraplegia, Dominant(LB);not specified(LB);Hereditary spastic paraplegia(US)" 2/9/2018 -14.1 1 BLB 3 193503 Simple 544397395 T . CI 1 6 Ellis-van Creveld Syndrome(US);Curry-Hall syndrome(LB);Ellis-van Creveld Syndrome(LB);not specified(LB);Chondroectodermal dysplasia(B);Curry-Hall syndrome(B);not specified(LB) 12/13/2017 -18.3 0.666666667 BLB 3 193504 Simple 377060857 T . CI 1 7 not specified(LB);Renal-hepatic-pancreatic dysplasia(US);Meckel-Gruber syndrome(US);Nephronophthisis(US);not specified(LB);Nephronophthisis(B);not specified(LB) 2/5/2018 -15.6 0.857142857 BLB 3 193520 Simple 199762900 C . CI 1 3 "not specified(B);Retinitis Pigmentosa, Recessive(US);Retinitis pigmentosa 26(LB)" 6/28/2017 -8.7 1 BLB 3 193539 Simple 747268471 A . CI 1 3 Medium-chain acyl-coenzyme A dehydrogenase deficiency(US);Medium-chain acyl-coenzyme A dehydrogenase deficiency(P);Medium-chain acyl-coenzyme A dehydrogenase deficiency(P) 12/29/2017 10.56 2 PLP 3 193557 Simple 148845653 T . CI 1 4 not specified(US);Cockayne syndrome(LB);Macular degeneration(LB);Cerebrooculofacioskeletal Syndrome(LB) 6/14/2016 -9.24 1.5 BLB 3 193624 Simple 201485014 G . CI 1 4 not specified(US);not specified(LB);Pitt-Hopkins-like syndrome 2(B);not specified(LB) 2/2/2018 -12.24 1 BLB 3 193643 Simple 147407423 A . CI 1 6 not specified(B);not specified(US);not specified(US);not specified(US);not specified(US);Progressive sclerosing poliodystrophy(LB) 1/4/2018 -8.97 1.166666667 BLB 3 193644 Simple 147211684 T . CI 1 3 "not specified(B);Glycogen storage disease, type VI(US);Glycogen storage disease, type VI(B)" 8/1/2017 -11.1 1.333333333 BLB 3 193680 Simple 75467696 T . CI 1 4 not specified(B);Schwartz Jampel syndrome type 1(US);Dyssegmental Dysplasia(US);not specified(LB) 6/19/2017 -8.4 1.25 BLB 3 193762 Simple 141287105 C . CI 1 5 not specified(B);Ellis-van Creveld Syndrome(US);not specified(LB);not specified(B);Chondroectodermal dysplasia(B);Curry-Hall syndrome(B) 9/5/2017 -20.1 1.2 BLB 3 193767 Simple 138560086 T . CI 1 3 not specified(B);not specified(B);Pontoneocerebellar hypoplasia(US) 6/14/2016 -10.5 2 BLB 3 193829 Simple 199586268 - . CI 1 3 "not specified(B);Glucose 6 phosphate dehydrogenase deficiency(US);Anemia, nonspherocytic hemolytic, due to G6PD deficiency(B)" 11/10/2017 -11.1 1.333333333 BLB 3 193859 Simple 187453572 T . CI 1 10 "not specified(US);Generalized epilepsy with febrile seizures plus(LB);Paroxysmal extreme pain disorder(LB);Small fiber neuropathy(LB);Severe myoclonic epilepsy in infancy(LB);Familial Febrile Seizures(LB);Congenital Indifference to Pain(LB);Inherited Erythromelalgia(LB);Hereditary sensory and autonomic neuropathy type IIA(US);Generalized epilepsy with febrile seizures plus, type 7(US);not specified(US)" 12/21/2017 -21.87 0.9 BLB 3 193860 Simple 200065104 T . CI 1 3 "not specified(US);Hereditary sensory and autonomic neuropathy type IIA(B);Generalized epilepsy with febrile seizures plus, type 7(B);not specified(LB)" 2/13/2018 -9.27 0.666666667 BLB 3 193897 Simple 139619013 C . CI 1 3 "not specified(LB);Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia(US);Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia(B)" 5/25/2017 -8.7 1.666666667 BLB 3 193911 Simple 143028540 G . CI 1 5 "not specified(B);not specified(LB);Intellectual Disability, Dominant(US);not provided(LB);Mental retardation, autosomal dominant 1(LB)" 1/24/2018 -14.1 1 BLB 3 193923 Simple 142756900 A . CI 1 4 "not specified(US);not specified(LB);not specified(LB);Early infantile epileptic encephalopathy 14(B);Epilepsy, nocturnal frontal lobe, 5(B)" 12/5/2017 -12.24 1 BLB 3 193929 Simple 139940282 C . CI 1 4 not specified(B);Joubert syndrome(US);not specified(US);Orofaciodigital syndrome 6(LB);Joubert syndrome 17(LB) 12/7/2017 -8.4 1 BLB 3 193990 Simple 145525174 T . CI 1 6 "not specified(LB);Stargardt disease 1(LP);Cone-Rod Dystrophy, Recessive(LB);Stargardt Disease, Recessive(LB);Retinitis Pigmentosa, Recessive(LB);Macular degeneration(LB)" 1/9/2017 -12.3 1.166666667 BLB 3 193991 Simple 111381107 T . CI 1 4 "not specified(B);Congenital Muscular Dystrophy, LAMA2-related(US);not specified(B);Laminin alpha 2-related dystrophy(B)" 3/13/2018 -17.1 1 BLB 3 193994 Simple 201667254 C . CI 1 5 "not specified(LB);not specified(LB);not specified(US);Epidermolysa bullosa simplex and limb girdle muscular dystrophy(B);Epidermolysis bullosa simplex, Ogna type(B);Epidermolysis bullosa simplex with pyloric atresia(B);Limb-girdle muscular dystrophy, type 2Q(B);Epidermolysis bullosa simplex with nail dystrophy(B);not specified(LB)" 3/7/2018 -15.3 0.6 BLB 3 193997 Simple 200420513 G . CI 1 3 not specified(US);not specified(LB);ATR-X syndrome(B) 8/16/2017 -8.64 2 BLB 3 194022 Simple 2301734 T . CI 1 4 not specified(LB);not specified(US);not specified(LB);not provided(LB) 9/29/2017 -8.64 1.75 BLB 3 194024 Simple 587780736 - . CI 1 4 "Renal cell carcinoma, papillary, 1(B);not specified(US);Renal cell carcinoma, papillary, 1(LB);not specified(LB)" 1/12/2018 -12.24 1 BLB 3 194025 Simple 121908627 A . CI 1 7 "not specified(US);not specified(US);Nonaka myopathy(LB);Sialuria(LB);Inclusion Body Myopathy, Recessive(LB);not provided(US);Inclusion body myopathy 2(US);Sialuria(US)" 10/31/2017 -10.2 0.714285714 BLB 3 194032 Simple 549232924 AA . CI 1 3 not specified(US);not specified(B);Early infantile epileptic encephalopathy(B) 11/7/2017 -11.04 2 BLB 3 194041 Simple 199929757 G . CI 1 5 not specified(LB);Myosclerosis(LB);Collagen VI-related myopathy(LB);not specified(US);Bethlem myopathy 1(LB) 1/10/2018 -12.3 0.8 BLB 3 194044 Simple 142311782 T . CI 1 3 "not specified(US);Muscular dystrophy, congenital, due to integrin alpha-7 deficiency(B);not specified(LB)" 6/8/2017 -9.24 1.333333333 BLB 3 194087 Simple 202212399 T . CI 1 4 "not specified(US);Early Infantile Epileptic Encephalopathy, Autosomal Dominant(LB);not specified(LB);Early infantile epileptic encephalopathy(B)" 11/22/2017 -12.24 1.25 BLB 3 194124 Simple 117033008 T . CI 1 5 Bardet-Biedl syndrome(US);not specified(LB);Bardet-Biedl syndrome(B);Bardet-Biedl syndrome(LB);not specified(B) 7/31/2017 -17.1 1 BLB 3 194138 Simple 138072724 T . CI 1 5 not specified(B);Bardet-Biedl syndrome(B);Bardet-Biedl syndrome(US);not specified(US);not provided(LB) 7/28/2017 -14.37 1.4 BLB 3 194142 Simple 201400523 T . CI 1 4 "not specified(LB);Nemaline Myopathy, Recessive(US);not specified(LB);Nemaline myopathy 2(B)" 12/14/2017 -11.7 1 BLB 3 194147 Simple 138787771 T . CI 1 6 "Emery-Dreifuss muscular dystrophy(LB);Cerebellar ataxia(LB);not specified(LB);not specified(LB);not provided(LB);Spinocerebellar ataxia, autosomal recessive 8(LB);Emery-Dreifuss muscular dystrophy 4, autosomal dominant(LB)" 12/28/2017 -17.4 1 BLB 3 194148 Simple 141315921 C . CI 1 3 not specified(B);not specified(LB);not specified(US) 7/27/2017 -8.7 1 BLB 3 194157 Simple 200799870 A . CI 1 4 not specified(US);not specified(B);Long QT syndrome(LB);Cardiovascular phenotype(LB) 12/21/2017 -11.04 1.75 BLB 3 194196 Simple 200660642 A . CI 1 6 "not specified(US);not specified(B);not specified(B);Periventricular nodular heterotopia 1(B);Melnick-Needles syndrome(B);Oto-palato-digital syndrome, type II(B);Frontometaphyseal dysplasia(B);not specified(B);Cardiovascular phenotype(LB)" 12/22/2017 -24.54 2 BLB 3 194240 Simple 148207416 A . CI 1 3 "not specified(US);Spinocerebellar Ataxia, Dominant(LB);not specified(B)" 9/1/2016 -9.24 1.666666667 BLB 3 194280 Simple 61748364 T . CI 1 4 "not specified(B);Charcot-Marie-Tooth disease, type IV(B);Charcot-Marie-Tooth, Type 4(US);not specified(B)" 1/11/2018 -17.1 1 BLB 3 194282 Simple 41269557 A . CI 1 6 not specified(US);Ellis-van Creveld Syndrome(LB);Curry-Hall syndrome(LB);not specified(LB);not specified(US);Chondroectodermal dysplasia(LB);Curry-Hall syndrome(LB) 8/30/2017 -12.54 1.166666667 BLB 3 194288 Simple 751050999 A . CI 1 4 not specified(US);not specified(LB);Brugada syndrome(LB);Cardiovascular phenotype(LB) 12/18/2017 -8.64 1.75 BLB 3 194297 Simple 563896790 T . CI 1 4 "not specified(B);Nemaline Myopathy, Recessive(US);Nemaline myopathy 2(B);not specified(B)" 9/7/2017 -17.1 1 BLB 3 194299 Simple 144056525 A . CI 1 5 "not specified(B);Emery-Dreifuss muscular dystrophy(LB);Cerebellar ataxia(LB);not specified(US);Spinocerebellar ataxia, autosomal recessive 8(US);Emery-Dreifuss muscular dystrophy 4, autosomal dominant(US)" 5/8/2017 -12.6 1 BLB 3 194305 Simple 142985368 C . CI 1 4 "not specified(LB);Cerebellar ataxia(LB);Emery-Dreifuss muscular dystrophy(LB);Spinocerebellar ataxia, autosomal recessive 8(US);Emery-Dreifuss muscular dystrophy 4, autosomal dominant(US)" 8/24/2017 -9.3 0.75 BLB 3 194331 Simple 371914255 A . CI 1 8 "not specified(US);Potassium aggravated myotonia(LB);Hyperkalemic Periodic Paralysis(LB);Hypokalemic periodic paralysis(LB);Paramyotonia congenita of von Eulenburg(LB);Congenital Myasthenic Syndrome, Recessive(LB);not specified(LB);Hyperkalemic Periodic Paralysis Type 1(B)" 8/1/2017 -24.27 1 BLB 3 194343 Simple 556761275 G . CI 1 5 not specified(US);Episodic ataxia(LB);Juvenile myoclonic epilepsy(LB);not specified(B);not specified(B) 2/10/2017 -17.64 1.6 BLB 3 194347 Simple 61749163 C . CI 1 3 not specified(B);Histiocytic medullary reticulosis(US);Severe combined immunodeficiency with sensitivity to ionizing radiation(B) 1/2/2018 -11.1 1.333333333 BLB 3 194367 Simple 370608239 A . CI 1 5 "not specified(US);Charcot-Marie-Tooth, Type 2(LB);Distal spinal muscular atrophy(LB);Peripheral axonal neuropathy(LB);not specified(LB)" 10/6/2017 -12.24 1.2 BLB 3 194429 Simple 150814749 T . CI 1 3 "not specified(LB);Syndromic Microphthalmia, Recessive(US);Microphthalmia syndromic 9(B)" 12/7/2017 -8.7 1.333333333 BLB 3 194438 Simple 188104446 G . CI 1 4 "not specified(B);Charcot-Marie-Tooth, Type 4(US);not specified(LB);Charcot-Marie-Tooth disease, type IV(B)" 7/26/2017 -14.1 1.25 BLB 3 194495 Simple 139926138 T . CI 1 4 "not specified(US);Spinal muscular atrophy(US);not specified(LB);Spinal muscular atrophy, distal, autosomal recessive, 1(B);Charcot-Marie-Tooth disease, axonal, type 2S(B)" 12/30/2017 -9.54 1 BLB 3 194513 Simple 147173555 A . CI 1 4 not specified(US);not specified(LB);Benign familial neonatal seizures 2(US);Benign familial neonatal seizures(B) 12/27/2017 -9.57 0.75 BLB 3 194557 Simple 533729683 C . CI 1 3 not specified(US);not specified(LB);Osteogenesis imperfecta type 8(B) 9/4/2017 -8.94 1.666666667 BLB 3 194590 Simple 145720191 T . CI 1 4 not specified(US);Cerebrooculofacioskeletal Syndrome(LB);Cockayne syndrome(LB);Macular degeneration(LB) 5/17/2017 -9.3 1 BLB 3 194618 Simple 72657304 C . CI 1 4 not specified(LB);Ciliary dyskinesia(US);Ciliary dyskinesia(B);not specified(B) 12/27/2017 -12.3 2.25 BLB 3 194621 Simple 535007570 A . CI 1 6 not specified(LB);not specified(US);Collagen VI-related myopathy(LB);Myosclerosis(LB);not specified(US);Bethlem myopathy 1(US) 10/17/2017 -9.87 0.833333333 BLB 3 194622 Simple 199513044 G . CI 1 5 not specified(US);Myosclerosis(LB);Collagen VI-related myopathy(LB);not specified(LB);Bethlem myopathy 1(LB) 12/4/2017 -12.3 0.6 BLB 3 194648 Simple 151051452 C . CI 1 5 "not specified(US);Limb-Girdle Muscular Dystrophy, Recessive(US);not specified(B);not specified(US);Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2(LB);Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2(LB);Limb-girdle muscular dystrophy-dystroglycanopathy, type C2(LB)" 11/20/2017 -8.7 1.2 BLB 3 194667 Simple 72650720 A . CI 1 4 "not specified(US);Hereditary sensory and autonomic neuropathy type II(LB);Pseudohypoaldosteronism, type 2(LB);Hereditary sensory and autonomic neuropathy type IIA(LB);Pseudohypoaldosteronism type 2C(LB)" 12/26/2017 -9.3 0.75 BLB 3 194695 Simple 41562713 C . CI 1 4 not specified(US);Cockayne syndrome(LB);Cerebrooculofacioskeletal Syndrome(LB);Macular degeneration(LB) 6/14/2016 -9.24 1.5 BLB 3 194702 Simple 56395521 C . CI 1 4 not specified(US);Leprechaunism syndrome(LB);Pineal hyperplasia AND diabetes mellitus syndrome(LB);Insulin-resistant diabetes mellitus AND acanthosis nigricans(LB) 6/14/2016 -9.24 1.5 BLB 3 194706 Simple 28943591 A . CI 1 6 not specified(LB);not specified(B);not provided(LB);Perrault syndrome(US);Bifunctional peroxisomal enzyme deficiency(US);not specified(B) 12/7/2017 -16.5 1.666666667 BLB 3 194716 Simple 16892134 C . CI 1 7 Meckel-Gruber syndrome(US);Joubert syndrome(US);not specified(US);not provided(US);Joubert syndrome(B);Meckel-Gruber syndrome(B);not specified(LB);not specified(US) 11/16/2017 -10.44 1.142857143 BLB 3 194727 Simple 200053635 A . CI 1 6 "not specified(LB);not specified(LB);not provided(LB);not specified(B);Periventricular nodular heterotopia 1(B);Melnick-Needles syndrome(B);Oto-palato-digital syndrome, type II(B);Frontometaphyseal dysplasia(B);Cardiovascular phenotype(B)" 2/14/2018 -26.1 0.833333333 BLB 3 194729 Simple 149077114 C . CI 1 5 Collagen VI-related myopathy(LB);Myosclerosis(LB);Bethlem myopathy 1(LB);not specified(LB);not specified(US) 12/20/2017 -12.3 0.4 BLB 3 194731 Simple 148641361 C . CI 1 4 "not specified(US);Congenital Muscular Dystrophy, ITGA7-related(US);not specified(LB);Muscular dystrophy, congenital, due to integrin alpha-7 deficiency(B)" 7/19/2017 -9.24 1.5 BLB 3 194764 Simple 148424288 T . CI 1 4 not specified(B);Nephronophthisis(B);Nephronophthisis(US);Renal dysplasia and retinal aplasia(US) 6/14/2016 -10.8 1.75 BLB 3 194813 Simple 201537030 G . CI 1 4 not specified(US);Branchiootorenal Spectrum Disorders(LB);Otofaciocervical syndrome 1(LB);not specified(LB) 6/6/2017 -9.24 1.25 BLB 3 194825 Simple 61757684 C . CI 1 7 Pyridoxine-dependent epilepsy(US);not provided(LB);Pyridoxine-dependent epilepsy(B);not specified(B);not specified(LB);not specified(B);Pyridoxine-dependent epilepsy(LB) 11/14/2017 -25.5 1.571428571 BLB 3 194844 Simple 151242451 A . CI 1 4 not specified(US);not specified(B);Duchenne muscular dystrophy(B);not specified(LB) 12/7/2017 -15.21 1.5 BLB 3 194863 Simple 146588608 T . CI 1 4 "not specified(B);Limb-Girdle Muscular Dystrophy, Recessive(US);not specified(B);Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2(B);Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2(B);Limb-girdle muscular dystrophy-dystroglycanopathy, type C2(B)" 12/15/2017 -17.1 1.25 BLB 3 194870 Simple 41288017 T . CI 1 3 not specified(B);not specified(LB);Joubert syndrome(B) 12/19/2017 -13.8 1 BLB 3 194893 Simple 144085805 G . CI 1 3 not specified(US);Chromosome 9q deletion syndrome(LB);Chromosome 9q deletion syndrome(B) 11/13/2017 -9.24 1.333333333 BLB 3 194894 Simple 372349042 C . CI 1 3 not specified(US);not specified(LB);Joubert syndrome(B);Meckel-Gruber syndrome(B);Nephronophthisis(B) 9/20/2017 -9 1 BLB 3 194923 Simple 374924686 T . CI 1 6 "not specified(US);Neuromuscular disease, congenital, with uniform type 1 fiber(LB);Central core disease(LB);Multiminicore Disease(LB);Malignant hyperthermia susceptibility(LB);RYR1-Related Disorders(B)" 11/27/2017 -18.24 1.166666667 BLB 3 194928 Simple 16024 T . CI 1 5 "not specified(US);Inborn genetic diseases(LB);not provided(US);not specified(B);Episodic ataxia type 2(B);Epileptic encephalopathy, early infantile, 42(B)" 12/20/2017 -15.6 0.8 BLB 3 194936 Simple 200586605 A . CI 1 5 "not specified(US);Charcot-Marie-Tooth disease, type 2(B);Charcot-Marie-Tooth, Type 2(LB);not specified(B);Charcot-Marie-Tooth disease, type 2N(LB)" 12/26/2017 -17.34 1.6 BLB 3 194958 Simple 146221263 C . CI 1 4 not specified(US);not specified(LB);not specified(LB);not provided(LB) 10/16/2017 -8.64 1.5 BLB 3 194959 Simple 140955110 A . CI 1 4 not specified(US);not specified(LB);not specified(LB);not provided(LB) 10/16/2017 -8.64 1.5 BLB 3 194989 Simple 141330687 T . CI 1 6 "not specified(B);Charcot-Marie-Tooth disease, type IV(B);Charcot-Marie-Tooth, Type 4(US);not provided(LB);not specified(LB);not specified(US)" 1/4/2018 -17.37 1.166666667 BLB 3 195015 Simple 143153487 T . CI 1 6 not specified(US);not specified(LB);not provided(US);Progressive myoclonic epilepsy(LB);Unverricht-Lundborg syndrome(B);Unverricht-Lundborg syndrome(LB) 3/6/2018 -15.48 1.166666667 BLB 3 195019 Simple 762542246 T . CI 1 3 "not specified(US);Glycogen storage disease, type II(B);not specified(LB)" 12/21/2017 -9.3 0.333333333 BLB 3 195041 Simple 144836032 G . CI 1 5 not specified(US);Pineal hyperplasia AND diabetes mellitus syndrome(LB);Insulin-resistant diabetes mellitus AND acanthosis nigricans(LB);Leprechaunism syndrome(LB);not specified(LB) 12/28/2016 -12 1.2 BLB 3 195118 Simple 56236932 C . CI 1 3 "not specified(B);Corneal fragility keratoglobus, blue sclerae AND joint hypermobility(US);not specified(B)" 10/20/2016 -11.1 1.666666667 BLB 3 195134 Simple 77585883 C . CI 1 5 "not specified(B);not specified(B);Myoclonic epilepsy, familial infantile(US);not specified(LB);Epileptic encephalopathy, early infantile, 1(LB);Deafness, autosomal dominant 65(LB);Caused by mutation in the TBC1 domain family, member 24(LB)" 10/27/2017 -15.9 1.4 BLB 3 195149 Simple 112469769 A . CI 1 4 "not specified(B);Type II Collagenopathies(US);Stickler Syndrome, Dominant(US);not specified(B)" 2/6/2017 -11.4 1.5 BLB 3 195172 Simple 35244252 A . CI 1 4 "not specified(B);Mitochondrial DNA depletion syndrome, hepatocerebral form(US);Mitochondrial DNA depletion syndrome(US);not specified(B)" 12/27/2016 -11.4 1.5 BLB 3 195187 Simple 769634214 - . CI 1 3 not specified(B);Townes-Brocks syndrome 1(US);Townes-Brocks syndrome 1(B) 5/31/2017 -12.3 1 BLB 3 195206 Simple 561870637 G . CI 1 7 "not specified(US);Keratitis-Ichthyosis-Deafness Syndrome(LB);Mutilating keratoderma(LB);Hystrix-like ichthyosis with deafness(LB);Nonsyndromic Hearing Loss, Dominant(LB);Nonsyndromic Hearing Loss, Recessive(LB);not provided(US)" 6/14/2016 -15.51 1.428571429 BLB 3 195220 Simple 145403829 C . CI 1 4 "not specified(B);not specified(US);not specified(LB);Limb-girdle muscular dystrophy-dystroglycanopathy, type C9(LB);Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9(LB)" 1/3/2018 -11.04 1.75 BLB 3 195272 Simple 150937126 T . CI 1 4 "not specified(US);not specified(LB);not specified(LB);Limb-girdle muscular dystrophy-dystroglycanopathy, type C1(LB);Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1(LB);Walker-Warburg congenital muscular dystrophy(LB)" 6/2/2017 -8.7 1.25 BLB 3 195293 Simple 371712630 T . CI 1 3 not specified(US);Early infantile epileptic encephalopathy(B);not specified(LB) 11/6/2017 -9.24 1 BLB 3 195295 Simple 141095352 T . CI 1 3 "not specified(US);not specified(LB);Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10(B)" 1/9/2018 -9.24 1 BLB 3 195338 Simple 34352773 C . CI 1 3 not specified(US);Ciliary dyskinesia(B);not specified(B) 12/29/2017 -9.84 2.666666667 BLB 3 195364 Simple 202162520 T . CI 1 6 "not specified(US);not specified(B);not specified(US);Myoclonic epilepsy, familial infantile(US);Epileptic encephalopathy, early infantile, 1(B);Deafness, autosomal dominant 65(B);Caused by mutation in the TBC1 domain family, member 24(B);not specified(US)" 1/3/2018 -12.6 1 BLB 3 195383 Simple 143301610 T . CI 1 8 not specified(US);not specified(LB);not specified(US);Cardiovascular phenotype(B);Arterial tortuosity syndrome(US);Arterial tortuosity syndrome(US);Arterial tortuosity syndrome(LB);Arterial tortuosity syndrome(LB) 12/27/2017 -15.18 1.5 BLB 3 195385 Simple 199743509 G . CI 1 4 "not specified(US);Charcot-Marie-Tooth, Type 2(US);not specified(B);Charcot-Marie-Tooth disease, type 2(LB)" 10/24/2017 -8.94 1.5 BLB 3 195466 Simple 146839867 A . CI 1 6 not specified(US);not specified(B);Familial hemiplegic migraine(US);Alternating hemiplegia of childhood(US);Familial hemiplegic migraine(B);not specified(B) 12/22/2017 -17.64 1.5 BLB 3 195467 Simple 184684058 A . CI 1 3 not specified(US);Long QT syndrome(B);Cardiovascular phenotype(LB) 12/28/2017 -9.24 1.333333333 BLB 3 195471 Simple 199793367 C . CI 1 4 "not specified(LB);not specified(LB);not specified(LB);Episodic ataxia type 2(US);Epileptic encephalopathy, early infantile, 42(US)" 11/10/2017 -9.3 0.25 BLB 3 195472 Simple 374749004 A . CI 1 3 not specified(US);not specified(LB);not specified(B) 7/6/2017 -9.21 1.666666667 BLB 3 195488 Simple 144941725 G . CI 1 10 "not specified(US);Generalized epilepsy with febrile seizures plus(LB);Small fiber neuropathy(LB);Severe myoclonic epilepsy in infancy(LB);Congenital Indifference to Pain(LB);Paroxysmal extreme pain disorder(LB);Inherited Erythromelalgia(LB);Familial Febrile Seizures(LB);not specified(LB);Hereditary sensory and autonomic neuropathy type IIA(B);Generalized epilepsy with febrile seizures plus, type 7(B)" 1/30/2018 -30.24 1 B 3 195518 Simple 41288013 C . CI 1 3 not specified(B);not specified(LB);Joubert syndrome(B) 12/19/2017 -13.8 1 BLB 3 195551 Simple 202141158 T . CI 1 4 "not specified(US);not specified(LB);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);Cardiovascular phenotype(LB)" 12/27/2017 -8.94 1.5 BLB 3 195592 Simple 180922748 C . CI 1 12 "not specified(LB);not specified(LB);Hereditary sensory and autonomic neuropathy type IIA(LB);Generalized epilepsy with febrile seizures plus, type 7(LB);Small fiber neuropathy(LB);Paroxysmal extreme pain disorder(LB);Severe myoclonic epilepsy in infancy(LB);Inherited Erythromelalgia(LB);Congenital Indifference to Pain(LB);Familial Febrile Seizures(LB);Generalized epilepsy with febrile seizures plus(LB);not specified(US);not provided(LB)" 3/9/2018 -32.7 0.833333333 B 3 195647 Simple 111967655 A . CI 1 4 "not specified(US);Transient Neonatal Diabetes, Dominant(LB);Permanent neonatal diabetes mellitus(LB);Hyperinsulinism, Dominant/Recessive(LB)" 6/14/2016 -9.24 1.5 BLB 3 195654 Simple 201818691 A . CI 1 3 "not specified(US);not specified(LB);Epidermolysa bullosa simplex and limb girdle muscular dystrophy(B);Epidermolysis bullosa simplex, Ogna type(B);Epidermolysis bullosa simplex with pyloric atresia(B);Limb-girdle muscular dystrophy, type 2Q(B);Epidermolysis bullosa simplex with nail dystrophy(B)" 3/6/2018 -9.27 0.666666667 BLB 3 195661 Simple 368802969 G . CI 1 3 not specified(B);Jeune thoracic dystrophy(B);not specified(B) 6/1/2017 -16.8 1.666666667 BLB 3 195670 Simple 199530601 A . CI 1 3 "not specified(US);not specified(LB);Periventricular nodular heterotopia 1(B);Melnick-Needles syndrome(B);Oto-palato-digital syndrome, type II(B);Frontometaphyseal dysplasia(B)" 7/10/2017 -9.24 1.333333333 BLB 3 195738 Simple 112116713 AA . CI 1 3 not specified(B);Seckel syndrome(US);not provided(B) 6/14/2016 -10.5 2 BLB 3 195741 Simple 149641783 A . CI 1 3 "not specified(US);not specified(LB);Myofibrillar myopathy, filamin C-related(B);Myopathy, distal, 4(B);Cardiomyopathy, familial hypertrophic, 26(B);Dilated Cardiomyopathy, Dominant(B)" 12/27/2017 -9.27 0.666666667 BLB 3 195744 Simple 201823490 A . CI 1 3 not specified(B);not specified(US);not specified(B) 3/10/2017 -11.07 2 BLB 3 195757 Simple 41276148 A . CI 1 4 "not specified(LB);Lissencephaly, Recessive(US);not specified(B);Lissencephaly 2(B);Epilepsy, familial temporal lobe, 7(B)" 4/23/2017 -14.1 1.5 BLB 3 195777 Simple 146496725 C . CI 1 6 not specified(B);Jeune thoracic dystrophy(B);Nephronophthisis(B);not specified(LB);not specified(US);not specified(LB);not provided(LB) 10/10/2017 -20.07 1.166666667 BLB 3 195791 Simple 368021072 C . CI 1 4 "not specified(US);not specified(LB);not specified(B);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB)" 6/19/2017 -11.04 2 BLB 3 195797 Simple 202106192 T . CI 1 9 "not specified(US);not specified(LB);Hyperkalemic Periodic Paralysis(LB);Paramyotonia congenita of von Eulenburg(LB);Potassium aggravated myotonia(LB);Congenital Myasthenic Syndrome, Recessive(LB);Hypokalemic periodic paralysis(LB);not specified(LB);Hyperkalemic Periodic Paralysis Type 1(LB)" 3/16/2018 -24 0.888888889 BLB 3 195810 Simple 117199211 T . CI 1 6 "not specified(LB);Charcot-Marie-Tooth disease, axonal, type 2O(B);Intellectual Disability, Dominant(US);Spinocerebellar Ataxia, Dominant(US);Charcot-Marie-Tooth, Type 2(US);not specified(B)" 1/5/2018 -15.3 1 BLB 3 195811 Simple 183563055 A . CI 1 4 "not specified(US);Brain small vessel disease with hemorrhage(LB);Porencephalic cyst(LB);Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps(LB)" 6/14/2016 -9.24 1.5 BLB 3 195816 Simple 188336294 A . CI 1 10 "Severe myoclonic epilepsy in infancy(LB);Paroxysmal extreme pain disorder(LB);Inherited Erythromelalgia(LB);Generalized epilepsy with febrile seizures plus(LB);Familial Febrile Seizures(LB);Small fiber neuropathy(LB);Congenital Indifference to Pain(LB);not specified(B);Hereditary sensory and autonomic neuropathy type IIA(B);Generalized epilepsy with febrile seizures plus, type 7(B);not specified(US)" 12/4/2017 -32.04 1.3 B 3 195822 Simple 373946448 A . CI 1 3 not specified(US);not specified(LB);Nemaline myopathy 2(B) 12/29/2017 -9.24 1 BLB 3 195845 Simple 377180286 T . CI 1 4 "not specified(US);not specified(LB);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Cardiovascular phenotype(LB)" 12/28/2017 -12.24 0.75 BLB 3 195847 Simple 146652498 A . CI 1 6 "not specified(LB);not specified(LB);Ehlers-Danlos syndrome, type 4(B);not specified(US);not provided(B);Cardiovascular phenotype(LB)" 1/24/2018 -20.7 0.833333333 BLB 3 195883 Simple 78889849 T . CI 1 4 not specified(B);Schwartz Jampel syndrome type 1(US);Dyssegmental Dysplasia(US);not specified(B) 6/19/2017 -11.4 1.25 BLB 3 195895 Simple 147493246 T . CI 1 3 not specified(B);Three M syndrome(US);not provided(B) 5/9/2017 -11.1 1.666666667 BLB 3 195909 Simple 200523422 C . CI 1 4 not specified(US);not specified(B);not provided(LB);not specified(LB) 1/11/2018 -11.64 1.5 BLB 3 195911 Simple 551015414 - . CI 1 3 not specified(B);Autosomal recessive polycystic kidney disease(US);Autosomal recessive polycystic kidney disease(B) 6/30/2017 -12.3 0.666666667 BLB 3 195921 Simple 372065796 G . CI 1 10 "not specified(US);Cardiovascular phenotype(LB);Myopathy, early-onset, with fatal cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Distal myopathy Markesbery-Griggs type(US);Hereditary myopathy with early respiratory failure(US);Hypertrophic cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);not specified(LB)" 2/22/2018 -10.14 1.3 BLB 3 195925 Simple 371514555 G . CI 1 5 "not specified(US);not specified(LB);not specified(LB);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);Cardiovascular phenotype(LB)" 12/29/2017 -11.64 1.2 BLB 3 195932 Simple 111606207 T . CI 1 5 Cardiovascular phenotype(LB);not specified(US);Brugada syndrome(LB);Timothy syndrome(LB);Long QT syndrome(B) 12/13/2017 -14.67 1.4 BLB 3 195935 Simple 794727411 T . CI 1 4 "not specified(US);not provided(P);Epileptic encephalopathy, early infantile, 42(LP);Inborn genetic diseases(US)" 12/14/2017 8.46 1.25 PLP 3 195962 Simple 146503597 T . CI 1 4 not specified(LB);Hermansky-Pudlak syndrome(US);not specified(LB);Hermansky Pudlak syndrome 2(B) 12/12/2017 -11.7 1.25 BLB 3 195978 Simple 794727423 A . CI 1 5 not specified(US);not provided(P);CHARGE association(P);CHARGE association(P);Inborn genetic diseases(US) 9/21/2017 17.49 1.2 P 3 196007 Simple 149561221 T . CI 1 6 "not specified(B);Ehlers-Danlos syndrome, type 7A(US);Osteogenesis Imperfecta, Dominant(US);Infantile cortical hyperostosis(US);not specified(LB);Osteogenesis imperfecta type I(B)" 10/20/2017 -14.7 1 BLB 3 196038 Simple 6706924 T . CI 1 3 not specified(US);not specified(B);Benign familial neonatal-infantile seizures(B);Early infantile epileptic encephalopathy 11(B) 6/30/2017 -11.04 2 BLB 3 196076 Simple 76928874 G . CI 1 10 "not specified(B);not specified(B);Distal myopathy Markesbery-Griggs type(US);Hereditary myopathy with early respiratory failure(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Hypertrophic cardiomyopathy(US);not specified(LB);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B)" 5/25/2017 -20.1 1.5 BLB 3 196113 Simple 113002150 T . CI 1 5 not specified(US);Collagen VI-related myopathy(LB);Myosclerosis(LB);not specified(LB);Bethlem myopathy 1(LB) 2/23/2018 -12.3 0.4 BLB 3 196117 Simple 111341650 T . CI 1 5 Collagen VI-related myopathy(LB);Myosclerosis(LB);not specified(US);Bethlem myopathy 1(LB);not specified(US) 9/29/2017 -9.6 0.6 BLB 3 196123 Simple 141021828 T . CI 1 5 not specified(US);Collagen VI-related myopathy(LB);Myosclerosis(LB);not specified(US);Bethlem myopathy 1(LB) 7/14/2017 -9.54 1 BLB 3 196148 Simple 151022876 C . CI 1 4 "not specified(US);not specified(LB);not specified(LB);Epidermolysa bullosa simplex and limb girdle muscular dystrophy(LB);Epidermolysis bullosa simplex, Ogna type(LB);Epidermolysis bullosa simplex with pyloric atresia(LB);Limb-girdle muscular dystrophy, type 2Q(LB);Epidermolysis bullosa simplex with nail dystrophy(LB)" 12/11/2017 -9.27 1 BLB 3 196178 Simple 138364426 A . CI 1 3 "not specified(B);Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia(US);Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia(B)" 8/22/2017 -11.1 1.333333333 BLB 3 196186 Simple 148634159 A . CI 1 3 not specified(B);Joubert syndrome(US);Orofaciodigital syndrome 6(B);Joubert syndrome 17(B) 12/7/2017 -11.1 1.333333333 BLB 3 196230 Simple 191903572 A . CI 1 3 not specified(US);Holoprosencephaly 3(B);not specified(LB) 12/28/2017 -9.24 1.333333333 BLB 3 196260 Simple 375668839 AAAA . CI 1 3 not specified(B);not provided(B);not specified(US) 6/12/2015 -10.44 2.666666667 BLB 3 196277 Simple 115545701 T . CI 1 9 Cystic fibrosis(LP);Congenital bilateral absence of the vas deferens(LP);Hereditary pancreatitis(LP);not provided(LP);Cystic fibrosis(B);not specified(US);not provided(LP);not specified(P);not provided(US) 11/16/2017 13.8 1 PLP 3 196315 Simple 146112081 A . CI 1 4 "not specified(US);Dementia, Deafness, and Sensory Neuropathy(LB);not specified(B);Hereditary sensory neuropathy type IE(B)" 1/2/2018 -14.64 1.5 BLB 3 196324 Simple 138193444 C . CI 1 3 "not specified(B);Osteogenesis Imperfecta, Recessive(US);not specified(LB)" 8/31/2017 -8.7 1 BLB 3 196337 Simple 60100877 A . CI 1 4 "not specified(LB);Frontotemporal dementia(LB);Frontotemporal dementia, ubiquitin-positive(B);Frontotemporal dementia, ubiquitin-positive(B);Ceroid lipofuscinosis, neuronal, 11(B)" 10/27/2017 -17.4 1 BLB 3 196338 Simple 191213443 A . CI 1 3 "not specified(B);Glycogen storage disease 0, muscle(US);not specified(B)" 12/21/2016 -11.1 1.666666667 BLB 3 196354 Simple 61752784 G . CI 1 6 not specified(LB);not specified(US);Progressive sclerosing poliodystrophy(B);not specified(US);not provided(LB);not specified(US) 12/4/2017 -12.3 1 BLB 3 196374 Simple 373907950 A . CI 1 3 not specified(US);Duchenne muscular dystrophy(B);not specified(LB) 10/18/2017 -9.24 1 BLB 3 196388 Simple 41290704 G . CI 1 4 "not specified(LB);not specified(US);Limb-girdle muscular dystrophy-dystroglycanopathy, type C9(LB);Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9(LB);not specified(LB)" 1/3/2018 -9 0.5 BLB 3 196405 Simple 202125318 A . CI 1 4 not specified(US);not specified(LB);Cardiovascular phenotype(LB);FG syndrome(B) 12/7/2017 -11.94 1.25 BLB 3 196460 Simple 773595457 C . CI 1 3 not specified(US);not specified(B);Cortical dysplasia-focal epilepsy syndrome(LB) 6/12/2017 -8.64 1.666666667 BLB 3 196465 Simple 16955851 A . CI 1 2 not specified(LB);Leber congenital amaurosis 4(B) 1/11/2018 -8.4 1.5 BLB 3 196476 Simple 76191655 T . CI 1 5 not specified(B);not specified(B);Cerebral folate deficiency(B);Cerebral folate deficiency(LB);Cerebral folate deficiency(B) 12/18/2017 -24.6 1.8 BLB 3 196477 Simple 142813109 C . CI 1 7 Bardet-Biedl syndrome(US);Meckel-Gruber syndrome(US);not specified(LB);not specified(LB);not provided(LB);not specified(LB);Joubert syndrome(B);Meckel-Gruber syndrome(B) 12/5/2017 -18 1.142857143 BLB 3 196478 Simple 34979623 A . CI 1 4 not specified(US);CHARGE association(LB);Hypogonadism with anosmia(LB);not specified(LB) 10/19/2016 -9.3 1 BLB 3 196493 Simple 139003032 T . CI 1 4 "not specified(US);not specified(LB);Neuronal ceroid lipofuscinosis(B);Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant(US);Ceroid lipofuscinosis neuronal 8(US)" 12/21/2017 -9.54 1 BLB 3 196565 Simple 140047528 G . CI 1 3 "not specified(B);Optic Atrophy, Recessive(US);not specified(B)" 2/16/2018 -11.7 1 BLB 3 196570 Simple 75295839 G . CI 1 5 not specified(US);not provided(B);not specified(LB);Bardet-Biedl syndrome(B);not specified(B) 6/7/2017 -20.07 1.4 BLB 3 196597 Simple 62272670 T . CI 1 4 "not specified(US);not provided(B);not specified(LB);Pena-Shokeir syndrome type I(B);Myasthenia, limb-girdle, familial(B)" 1/12/2018 -14.04 1.5 BLB 3 196611 Simple 148465219 T . CI 1 4 "not specified(LB);not specified(LB);not specified(LB);Epidermolysa bullosa simplex and limb girdle muscular dystrophy(LB);Epidermolysis bullosa simplex, Ogna type(LB);Epidermolysis bullosa simplex with pyloric atresia(LB);Limb-girdle muscular dystrophy, type 2Q(LB);Epidermolysis bullosa simplex with nail dystrophy(LB)" 11/14/2017 -11.7 0.75 BLB 3 196613 Simple 111294536 T . CI 1 4 not specified(LB);not specified(LB);Primary Microcephaly 2 With or Without Cortical Malformations(US);not specified(LB) 12/8/2017 -8.7 1.25 BLB 3 196660 Simple 147077184 T . CI 1 5 not specified(US);not specified(US);not specified(US);not specified(LB);Laminin alpha 2-related dystrophy(B) 11/28/2017 -9.81 1.2 BLB 3 196714 Simple 201838492 G . CI 1 8 Joubert syndrome(US);Meckel-Gruber syndrome(US);Bardet-Biedl syndrome(US);Renal dysplasia and retinal aplasia(US);Leber congenital amaurosis(US);not specified(LB);not specified(LB);Joubert syndrome(B);Meckel-Gruber syndrome(B);Nephronophthisis(B) 6/5/2017 -12.9 1.125 BLB 3 196716 Simple 193257576 T . CI 1 4 "not specified(B);not specified(US);not specified(LB);Epidermolysa bullosa simplex and limb girdle muscular dystrophy(LB);Epidermolysis bullosa simplex, Ogna type(LB);Epidermolysis bullosa simplex with pyloric atresia(LB);Limb-girdle muscular dystrophy, type 2Q(LB);Epidermolysis bullosa simplex with nail dystrophy(LB)" 1/30/2018 -10.44 1.75 BLB 3 196723 Simple 112188483 T . CI 1 4 not specified(US);Primary dilated cardiomyopathy(LP);not provided(LP);not provided(P) 3/2/2017 10.8 1.75 PLP 3 196732 Simple 551187778 A . CI 1 3 "not specified(US);Epidermolysa bullosa simplex and limb girdle muscular dystrophy(B);Epidermolysis bullosa simplex, Ogna type(B);Epidermolysis bullosa simplex with pyloric atresia(B);Limb-girdle muscular dystrophy, type 2Q(B);Epidermolysis bullosa simplex with nail dystrophy(B);not specified(LB)" 12/12/2017 -9.27 0.666666667 BLB 3 196750 Simple 144242254 A . CI 1 4 "not specified(US);not specified(LB);not specified(B);Epidermolysa bullosa simplex and limb girdle muscular dystrophy(B);Epidermolysis bullosa simplex, Ogna type(B);Epidermolysis bullosa simplex with pyloric atresia(B);Limb-girdle muscular dystrophy, type 2Q(B);Epidermolysis bullosa simplex with nail dystrophy(B)" 10/31/2017 -15.27 0.75 BLB 3 196756 Simple 563719398 A . CI 1 5 "not specified(US);not specified(B);not specified(LB);not specified(B);Epidermolysa bullosa simplex and limb girdle muscular dystrophy(B);Epidermolysis bullosa simplex, Ogna type(B);Epidermolysis bullosa simplex with pyloric atresia(B);Limb-girdle muscular dystrophy, type 2Q(B);Epidermolysis bullosa simplex with nail dystrophy(B)" 9/28/2017 -20.64 1.4 BLB 3 196764 Simple 542642242 A . CI 1 3 "not specified(US);not specified(LB);Epidermolysa bullosa simplex and limb girdle muscular dystrophy(B);Epidermolysis bullosa simplex, Ogna type(B);Epidermolysis bullosa simplex with pyloric atresia(B);Limb-girdle muscular dystrophy, type 2Q(B);Epidermolysis bullosa simplex with nail dystrophy(B)" 2/26/2018 -9.24 1 BLB 3 196778 Simple 150687987 A . CI 1 4 "not specified(US);Stickler Syndrome, Recessive(LB);Multiple Epiphyseal Dysplasia, Dominant(LB);not specified(LB)" 12/11/2017 -9.3 0.75 BLB 3 196781 Simple 377002313 A . CI 1 3 not specified(US);Congenital contractural arachnodactyly(B);not specified(LB) 12/5/2017 -8.64 1.666666667 BLB 3 196782 Simple 200754433 AA . CI 1 3 not specified(B);not specified(B);Kabuki syndrome(US) 6/14/2016 -9.3 2.666666667 BLB 3 196799 Simple 149109801 T . CI 1 6 "not specified(LB);Emery-Dreifuss muscular dystrophy(LB);Cerebellar ataxia(LB);not specified(LB);not specified(US);Spinocerebellar ataxia, autosomal recessive 8(LB);Emery-Dreifuss muscular dystrophy 4, autosomal dominant(LB)" 2/23/2018 -14.97 1 BLB 3 196816 Simple 200061415 C . CI 1 3 "not specified(US);not specified(LB);Epidermolysa bullosa simplex and limb girdle muscular dystrophy(B);Epidermolysis bullosa simplex, Ogna type(B);Epidermolysis bullosa simplex with pyloric atresia(B);Limb-girdle muscular dystrophy, type 2Q(B);Epidermolysis bullosa simplex with nail dystrophy(B)" 11/27/2017 -9 1 BLB 3 196823 Simple 188739870 T . CI 1 4 "not specified(LB);not specified(LB);Epidermolysa bullosa simplex and limb girdle muscular dystrophy(B);Epidermolysis bullosa simplex, Ogna type(B);Epidermolysis bullosa simplex with pyloric atresia(B);Limb-girdle muscular dystrophy, type 2Q(B);Epidermolysis bullosa simplex with nail dystrophy(B);not specified(LB)" 1/3/2018 -15 0.25 BLB 3 196852 Simple 111227648 A . CI 1 4 "not specified(US);not specified(LB);Epidermolysa bullosa simplex and limb girdle muscular dystrophy(B);Epidermolysis bullosa simplex, Ogna type(B);Epidermolysis bullosa simplex with pyloric atresia(B);Limb-girdle muscular dystrophy, type 2Q(B);Epidermolysis bullosa simplex with nail dystrophy(B);not specified(LB)" 9/1/2017 -12.27 0.5 BLB 3 196861 Simple 143166100 G . CI 1 5 "not specified(LB);not specified(LB);not specified(US);Early Infantile Epileptic Encephalopathy, Autosomal Dominant(US);Early infantile epileptic encephalopathy(LB)" 9/27/2017 -8.94 1.4 BLB 3 196865 Simple 149162847 A . CI 1 4 "not specified(B);Nemaline Myopathy, Recessive(US);Nemaline myopathy 2(B);not specified(B)" 12/4/2017 -17.1 1.25 BLB 3 196891 Simple 150069819 T . CI 1 5 not specified(US);not specified(B);not specified(LB);Cardiovascular phenotype(LB);Dilated cardiomyopathy 1JJ(B) 6/12/2017 -16.14 2.2 BLB 3 196922 Simple 143147192 C . CI 1 5 Joubert syndrome(US);not specified(B);Orofaciodigital syndrome 6(B);Joubert syndrome 17(B);Joubert syndrome 17(LB);not specified(B) 11/13/2017 -19.2 1.6 BLB 3 196949 Simple 146662894 A . CI 1 4 not specified(US);Collagen VI-related myopathy(LB);not specified(LB);Bethlem myopathy 1(LB) 11/22/2017 -9 1 BLB 3 196977 Simple 139260335 C . CI 1 3 Bethlem myopathy 1(P);not provided(LP);Bethlem myopathy 1(US) 1/8/2018 8.7 0.333333333 PLP 3 196994 Simple 751305758 T . CI 1 4 not specified(US);Hereditary cancer-predisposing syndrome(LB);not specified(LB);Tuberous sclerosis 2(LB) 2/19/2018 -8.94 1.25 BLB 3 197008 Simple 35654397 G . CI 1 4 "not specified(US);Nemaline Myopathy, Recessive(US);not specified(LB);Nemaline myopathy 2(B)" 12/20/2017 -9.54 1 BLB 3 197009 Simple 192656109 T . CI 1 3 not specified(US);not specified(B);FG syndrome(B) 12/13/2017 -11.04 2 BLB 3 197018 Simple 138617999 T . CI 1 5 "not specified(US);Emery-Dreifuss muscular dystrophy(LB);Cerebellar ataxia(LB);Spinocerebellar ataxia, autosomal recessive 8(US);Emery-Dreifuss muscular dystrophy 4, autosomal dominant(US);not specified(LB)" 12/19/2017 -9.6 0.6 BLB 3 197054 Simple 139070070 T . CI 1 4 "not specified(US);Ehlers-Danlos syndrome, type 7A(LB);not specified(LB);Ehlers-Danlos syndrome, classic type(B)" 12/22/2017 -12.24 1.25 BLB 3 197068 Simple 146024732 T . CI 1 5 "not specified(US);Cardiovascular phenotype(LB);Thoracic aortic aneurysm and aortic dissection(US);Lissencephaly, Recessive(US);Aortic aneurysm, familial thoracic 4(B)" 12/31/2017 -9.54 1.4 BLB 3 197085 Simple 117370446 A . CI 1 8 Bardet-Biedl syndrome(US);Leber congenital amaurosis(US);Renal dysplasia and retinal aplasia(US);Meckel-Gruber syndrome(US);Joubert syndrome(US);not specified(LB);Joubert syndrome(B);Meckel-Gruber syndrome(B);Nephronophthisis(B);not specified(B) 9/22/2017 -15.3 1.125 BLB 3 197087 Simple 149758808 A . CI 1 6 "not specified(B);Cerebellar ataxia(LB);Emery-Dreifuss muscular dystrophy(LB);not specified(LB);not specified(US);Spinocerebellar ataxia, autosomal recessive 8(LB);Emery-Dreifuss muscular dystrophy 4, autosomal dominant(LB)" 12/21/2017 -17.67 1 BLB 3 197098 Simple 73541957 G . CI 1 5 not specified(B);not specified(B);Citrullinemia type I(US);not provided(LB);Citrullinemia type I(B) 12/28/2017 -18.9 1.6 BLB 3 197135 Simple 191547933 C . CI 1 3 not specified(US);not specified(LB);Hyperkalemic Periodic Paralysis Type 1(B) 7/21/2017 -8.97 1.333333333 BLB 3 197136 Simple 143906738 T . CI 1 3 not specified(US);not specified(B);Amyloidogenic transthyretin amyloidosis(LB) 9/27/2017 -8.64 1.666666667 BLB 3 197158 Simple 192495718 G . CI 1 8 "Neuromuscular disease, congenital, with uniform type 1 fiber(LB);Central core disease(LB);Multiminicore Disease(LB);Malignant hyperthermia susceptibility(LB);not provided(US);not specified(US);RYR1-Related Disorders(B);not specified(US)" 1/15/2018 -18.84 1 BLB 3 197162 Simple 187733403 T . CI 1 5 not specified(US);not specified(US);Alternating hemiplegia of childhood(LB);Familial hemiplegic migraine(LB);Familial hemiplegic migraine(B) 12/6/2017 -12.51 1.4 BLB 3 197171 Simple 73765819 G . CI 1 3 not specified(B);Ciliary dyskinesia(US);Ciliary dyskinesia(B) 7/28/2017 -11.1 1.333333333 BLB 3 197179 Simple 117896500 A . CI 1 3 not specified(US);Joubert syndrome(B);Meckel-Gruber syndrome(B);not specified(B) 2/16/2018 -12.24 1 BLB 3 197224 Simple 149309844 A . CI 1 4 not specified(LB);Amish infantile epilepsy syndrome(US);Amish infantile epilepsy syndrome(B);not specified(LB) 12/7/2017 -11.7 1 BLB 3 197241 Simple 141818070 T . CI 1 4 "not specified(US);not specified(LB);not specified(US);Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6(B)" 1/3/2018 -9.51 1.25 BLB 3 197256 Simple 55980069 C . CI 1 5 "Congenital Myasthenic Syndrome, Recessive(US);not provided(LB);Pena-Shokeir syndrome type I(B);Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency(B);not specified(B);not specified(B)" 12/27/2017 -20.1 1.2 BLB 3 197317 Simple 117419007 T . CI 1 3 not specified(B);Ciliary dyskinesia(B);Ciliary dyskinesia(US) 12/27/2017 -11.1 1.333333333 BLB 3 197333 Simple 5743277 T . CI 1 4 not specified(LB);Crohn disease(LB);Blau syndrome(LB);Blau syndrome(LB);Inflammatory bowel disease 1(LB) 10/3/2017 -11.4 1.25 BLB 3 197356 Simple 142639587 T . CI 1 4 not specified(US);Cardiovascular phenotype(LB);not specified(LB);Arterial tortuosity syndrome(LB) 12/15/2017 -8.64 1.75 BLB 3 197374 Simple 904582 G . CI 1 4 "not specified(B);Charcot-Marie-Tooth, Type 4(US);not specified(B);Charcot-Marie-Tooth disease, type IV(B)" 11/27/2017 -17.1 1.25 BLB 3 197403 Simple 143777403 G . CI 1 4 "not specified(LB);not specified(LB);not specified(US);Gnathodiaphyseal dysplasia(LB);Limb-girdle muscular dystrophy, type 2L(LB)" 1/9/2018 -9 0.75 BLB 3 197404 Simple 202054108 A . CI 1 4 "not specified(B);not specified(LB);Ehlers-Danlos syndrome, classic type(US);Cardiovascular phenotype(LB)" 11/29/2017 -11.1 0.75 BLB 3 197439 Simple 79161241 A . CI 1 4 "not specified(US);not specified(B);not specified(LB);Lissencephaly 2(LB);Epilepsy, familial temporal lobe, 7(LB)" 11/2/2017 -11.64 1.5 BLB 3 197462 Simple 139030003 T . CI 1 3 "not specified(US);Myofibrillar myopathy, filamin C-related(B);Myopathy, distal, 4(B);Cardiomyopathy, familial hypertrophic, 26(B);Dilated Cardiomyopathy, Dominant(B);not specified(LB)" 2/8/2018 -9.24 1 BLB 3 197476 Simple 145608939 A . CI 1 4 not specified(US);not specified(B);Osteogenesis imperfecta type I(B);not specified(LB) 1/2/2018 -15.24 1.25 BLB 3 197477 Simple 149722210 A . CI 1 8 "not specified(LB);not specified(LB);Ehlers-Danlos syndrome, type 4(LB);not specified(B);Ehlers-Danlos syndrome, type 4(B);not specified(US);not provided(B);Cardiovascular phenotype(US)" 1/24/2018 -26.1 1.125 BLB 3 197480 Simple 45602336 T . CI 1 4 not specified(US);Cardiovascular phenotype(LB);Long QT syndrome(US);Long QT syndrome(B) 12/11/2017 -9.24 1.5 BLB 3 197505 Simple 56198613 A . CI 1 4 not specified(US);Long QT syndrome(B);Cardiovascular phenotype(LB);Long QT syndrome 11(LB) 11/15/2017 -11.94 1.25 BLB 3 197524 Simple 144180493 C . CI 1 5 "not specified(LB);not specified(LB);Nemaline Myopathy, Recessive(US);not specified(LB);Nemaline myopathy 2(B)" 2/16/2018 -15 0.8 BLB 3 197529 Simple 138453594 G . CI 1 4 not specified(B);Cohen syndrome(US);not specified(B);Cohen syndrome(B) 6/29/2017 -16.5 1.5 BLB 3 197535 Simple 113034899 T . CI 1 3 not specified(B);Autosomal recessive polycystic kidney disease(B);Autosomal recessive polycystic kidney disease(US) 10/12/2017 -11.1 1.333333333 BLB 3 197545 Simple 142531761 G . CI 1 3 not specified(US);Duchenne muscular dystrophy(B);not specified(LB) 5/31/2017 -9.27 1.333333333 BLB 3 197574 Simple 191613017 G . CI 1 4 not specified(B);not specified(US);not specified(LB);Joubert syndrome(LB);Meckel-Gruber syndrome(LB);Nephronophthisis(LB) 3/13/2018 -11.07 1.25 BLB 3 197576 Simple 183683592 C . CI 1 5 not specified(US);Cerebellar ataxia(LB);Emery-Dreifuss muscular dystrophy(LB);not specified(LB);not specified(US) 12/27/2016 -9.6 1 BLB 3 197609 Simple 142558977 G . CI 1 7 "Multiminicore Disease(LB);Neuromuscular disease, congenital, with uniform type 1 fiber(LB);Malignant hyperthermia susceptibility(LB);Central core disease(LB);not specified(LB);RYR1-Related Disorders(B);not specified(US)" 3/8/2018 -21.24 1 BLB 3 197633 Simple 138097673 T . CI 1 4 "not specified(B);not specified(US);not specified(LB);Glycogen storage disease, type II(B)" 1/3/2018 -13.41 2 BLB 3 197651 Simple 151084683 A . CI 1 3 "not specified(B);Niemann-Pick disease, type C(US);Niemann-Pick disease type C1(B)" 3/13/2017 -11.1 1.666666667 BLB 3 197787 Simple 141932061 T . CI 1 3 not specified(B);not specified(B);not specified(US) 8/1/2017 -9.9 2 BLB 3 197792 Simple 142143566 T . CI 1 3 not specified(US);not specified(B);Early infantile epileptic encephalopathy 12(B) 10/12/2017 -11.1 1.333333333 BLB 3 197795 Simple 140785104 T . CI 1 5 "not specified(B);Limb-Girdle Muscular Dystrophy, Recessive(US);not specified(LB);not specified(LB);Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2(B);Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2(B);Limb-girdle muscular dystrophy-dystroglycanopathy, type C2(B)" 1/3/2018 -17.1 1 BLB 3 197859 Simple 756502783 A . CI 1 4 not specified(US);not specified(LB);Familial cancer of breast(LB);Hereditary cancer-predisposing syndrome(LB) 4/11/2017 -8.94 1.75 BLB 3 197890 Simple 770187706 A . CI 1 3 not specified(US);not specified(LB);Early infantile epileptic encephalopathy(B) 12/18/2017 -9.3 0.333333333 BLB 3 197900 Simple 8030837 C . CI 1 4 "not specified(B);Acrocallosal syndrome, Schinzel type(US);not specified(LB);Acrocallosal syndrome, Schinzel type(B)" 5/5/2017 -14.7 1.25 BLB 3 197910 Simple 779774302 T . CI 1 5 "not specified(US);Cardiovascular phenotype(LB);not provided(US);not specified(LB);Ehlers-Danlos syndrome, type 4(LB)" 2/26/2018 -9.3 0.8 BLB 3 197911 Simple 150669855 A . CI 1 4 "not specified(US);Marshall syndrome(LB);Stickler Syndrome, Dominant(LB);Fibrochondrogenesis(LB)" 6/14/2016 -9.24 1.5 BLB 3 197929 Simple 113163375 A . CI 1 4 "not specified(US);not specified(LB);Spinocerebellar ataxia, autosomal recessive 8(LB);Emery-Dreifuss muscular dystrophy 4, autosomal dominant(LB);not specified(LB)" 2/1/2018 -9.24 1.25 BLB 3 197940 Simple 117480635 T . CI 1 6 "not specified(LB);Emery-Dreifuss muscular dystrophy(LB);Cerebellar ataxia(LB);not specified(LB);not specified(US);Spinocerebellar ataxia, autosomal recessive 8(LB);Emery-Dreifuss muscular dystrophy 4, autosomal dominant(LB)" 12/28/2017 -15.3 0.666666667 BLB 3 197946 Simple 147707463 T . CI 1 9 "not specified(US);Malignant hyperthermia, susceptibility to, 1(LB);Multiminicore Disease(LB);Neuromuscular disease, congenital, with uniform type 1 fiber(LB);Central core disease(LB);Malignant hyperthermia susceptibility(LB);not specified(US);not specified(US);RYR1-Related Disorders(LB)" 1/9/2018 -17.91 1.555555556 BLB 3 197964 Simple 151249006 T . CI 1 5 "not specified(US);Marshall syndrome(LB);Fibrochondrogenesis(LB);Stickler Syndrome, Dominant(LB);not specified(US)" 5/30/2017 -9.6 1 BLB 3 198013 Simple 149318176 A . CI 1 3 not specified(LB);Cohen syndrome(US);Cohen syndrome(B) 8/11/2017 -8.7 1.333333333 BLB 3 198028 Simple 3741050 A . CI 1 3 not specified(B);Deficiency of acetyl-CoA acetyltransferase(US);Deficiency of acetyl-CoA acetyltransferase(B) 9/15/2017 -11.1 1.333333333 BLB 3 198039 Simple 150638770 A . CI 1 5 "Congenital Myasthenic Syndrome, Dominant/Recessive(US);Multiple pterygium syndrome Escobar type(US);not specified(LB);Lethal multiple pterygium syndrome(B);not specified(US)" 1/3/2018 -9.84 1.2 BLB 3 198123 Simple 76048624 T . CI 1 4 not specified(US);not specified(LB);not specified(LB);Dilated cardiomyopathy 1DD(LB) 1/5/2018 -8.64 1.75 BLB 3 198145 Simple 76707931 T . CI 1 3 "not specified(B);Spinal muscular atrophy(US);Spinal muscular atrophy, distal, autosomal recessive, 1(B);Charcot-Marie-Tooth disease, axonal, type 2S(B)" 1/11/2018 -11.1 1.333333333 BLB 3 198166 Simple 116066149 A . CI 1 4 not specified(US);Collagen VI-related myopathy(LB);not specified(LB);Bethlem myopathy 1(LB) 11/23/2017 -9.3 0.5 BLB 3 198222 Simple 189274856 T . CI 1 5 "not specified(US);Congenital Muscular Dystrophy, alpha-dystroglycan related(US);Limb-Girdle Muscular Dystrophy, Recessive(US);not specified(B);Limb-girdle muscular dystrophy-dystroglycanopathy, type C3(LB);Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3(LB)" 12/14/2017 -9.3 0.8 BLB 3 198223 Simple 61978638 T . CI 1 5 not specified(US);not specified(LB);not provided(LB);not provided(LB);CHARGE association(B) 10/11/2017 -14.91 1.6 BLB 3 198230 Simple 148092033 T . CI 1 3 not specified(LB);Histiocytosis-lymphadenopathy plus syndrome(US);Histiocytosis-lymphadenopathy plus syndrome(B) 10/19/2017 -8.7 1.333333333 BLB 3 198246 Simple 371733585 T . CI 1 10 "Distal spinal muscular atrophy, congenital nonprogressive(LB);Charcot-Marie-Tooth, Type 2(LB);Scapuloperoneal spinal muscular atrophy(LB);Brachyolmia(LB);Metatrophic dysplasia(LB);Spondylometaphyseal dysplasia(LB);not specified(LB);Charcot-Marie-Tooth disease type 2C(B);not specified(LB);not specified(US)" 2/23/2018 -30.24 1 B 3 198248 Simple 142281464 A . CI 1 4 not specified(B);not specified(LB);Amish lethal microcephaly(US);not specified(LB) 12/27/2016 -10.8 1.75 BLB 3 198261 Simple 149430216 G . CI 1 4 not specified(US);not specified(LB);not specified(LB);Joubert syndrome(B);Meckel-Gruber syndrome(B) 9/22/2017 -11.94 1.25 BLB 3 198327 Simple 79374915 C . CI 1 3 "not specified(B);Congenital Muscular Dystrophy, LAMA2-related(US);Laminin alpha 2-related dystrophy(B)" 1/2/2018 -11.1 1.333333333 BLB 3 198328 Simple 61739911 T . CI 1 5 "not specified(US);Malignant hyperthermia susceptibility(LB);Central core disease(LB);Neuromuscular disease, congenital, with uniform type 1 fiber(LB);Multiminicore Disease(LB)" 6/14/2016 -12.27 1.2 BLB 3 198331 Simple 140830294 G . CI 1 4 not specified(B);Jeune thoracic dystrophy(US);Short Rib Polydactyly Syndrome(US);not specified(B) 4/11/2017 -11.4 1.5 BLB 3 198335 Simple 150170988 T . CI 1 5 "not specified(B);Emery-Dreifuss muscular dystrophy(LB);Cerebellar ataxia(LB);not specified(B);Spinocerebellar ataxia, autosomal recessive 8(LB);Emery-Dreifuss muscular dystrophy 4, autosomal dominant(LB)" 1/2/2018 -19.8 1.2 BLB 3 198336 Simple 140861713 G . CI 1 6 "not specified(B);Cerebellar ataxia(LB);Emery-Dreifuss muscular dystrophy(LB);not specified(LB);not specified(B);Spinocerebellar ataxia, autosomal recessive 8(B);Emery-Dreifuss muscular dystrophy 4, autosomal dominant(B)" 1/2/2018 -25.8 0.833333333 BLB 3 198337 Simple 145343609 T . CI 1 8 "not specified(US);not specified(US);Stickler Syndrome, Dominant(LB);Fibrochondrogenesis(LB);Nonsyndromic Hearing Loss, Dominant(LB);Otospondylomegaepiphyseal dysplasia(LB);Weissenbacher-Zweymuller syndrome(LB);not specified(US)" 3/20/2017 -15.84 1.25 BLB 3 198378 Simple 143070183 A . CI 1 5 "not specified(LB);Emery-Dreifuss muscular dystrophy(LB);Cerebellar ataxia(LB);not specified(LB);Spinocerebellar ataxia, autosomal recessive 8(B);Emery-Dreifuss muscular dystrophy 4, autosomal dominant(B)" 1/3/2018 -17.4 1 BLB 3 198429 Simple 774538869 AA . CI 1 9 not specified(B);Lynch syndrome(B);Hereditary nonpolyposis colorectal cancer type 4(US);not specified(B);Hereditary nonpolyposis colon cancer(B);Hereditary cancer-predisposing syndrome(B);Hereditary cancer-predisposing syndrome(LB);Hereditary nonpolyposis colorectal cancer type 4(LB);Hereditary nonpolyposis colorectal cancer type 4(B) 7/25/2017 -39.57 1.222222222 B 3 198442 Simple 149695930 A . CI 1 4 "not specified(US);Fanconi anemia(B);Fanconi Anemia, X-Linked(LB);VACTERL association with hydrocephalus(LB)" 6/26/2017 -12.24 1.25 BLB 3 198451 Simple 186264635 G . CI 1 3 not specified(LB);not provided(LB);not specified(LB) 11/2/2017 -8.4 1.333333333 BLB 3 198456 Simple 45520237 T . CI 1 4 "not specified(US);Renal cell carcinoma, papillary, 1(B);Hereditary cancer-predisposing syndrome(LB);not specified(LB)" 2/21/2018 -11.94 1.25 BLB 3 198468 Simple 199853721 A . CI 1 6 "not specified(B);not specified(US);not specified(B);Periventricular nodular heterotopia 1(B);Melnick-Needles syndrome(B);Oto-palato-digital syndrome, type II(B);Frontometaphyseal dysplasia(B);Cardiovascular phenotype(LB);not specified(B)" 12/28/2017 -25.44 1.833333333 BLB 3 198478 Simple 370741662 C . CI 1 3 "not specified(B);Congenital Muscular Dystrophy, ITGA7-related(US);Muscular dystrophy, congenital, due to integrin alpha-7 deficiency(B)" 11/16/2017 -11.1 1.333333333 BLB 3 198513 Simple 183171123 C . CI 1 3 not specified(US);not specified(B);not provided(LB) 9/25/2017 -9.24 1.333333333 BLB 3 198533 Simple 139616052 A . CI 1 6 not specified(US);Cardiovascular phenotype(LB);Thoracic aortic aneurysm and aortic dissection(US);Loeys-Dietz syndrome(US);not specified(LB);Thoracic aortic aneurysm and aortic dissection(LB) 12/18/2017 -8.64 1.833333333 BLB 3 198562 Simple 142719253 A . CI 1 4 "not specified(US);not specified(LB);not specified(LB);Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked(LB)" 9/8/2017 -9.24 1.25 BLB 3 198569 Simple 545088400 A . CI 1 3 not specified(US);not specified(LB);Adams-Oliver syndrome 5(B) 12/22/2017 -9.24 1 BLB 3 198573 Simple 143578698 G . CI 1 5 not specified(US);not specified(LB);Neuronal ceroid lipofuscinosis(B);not specified(US);Ceroid lipofuscinosis neuronal 6(US);Adult neuronal ceroid lipofuscinosis(US) 12/28/2017 -9.84 1 BLB 3 198593 Simple 144567556 T . CI 1 6 Joubert syndrome(US);Meckel-Gruber syndrome(US);not specified(LB);Joubert syndrome(B);Meckel-Gruber syndrome(B);not specified(LB);not specified(LB) 8/24/2017 -14.7 1.333333333 BLB 3 198602 Simple 149171782 T . CI 1 4 not specified(US);Hyperphosphatasia-intellectual disability syndrome(US);not specified(LB);Hyperphosphatasia with mental retardation syndrome 2(B) 1/2/2018 -9.54 1 BLB 3 198614 Simple 375448572 A . CI 1 4 "not specified(US);not specified(LB);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);not specified(LB)" 11/27/2017 -8.64 1.5 BLB 3 198619 Simple 28544073 T . CI 1 4 "not specified(LB);Neuronal Ceroid-Lipofuscinosis, Recessive(US);not specified(LB);Ceroid lipofuscinosis neuronal 7(LB)" 12/11/2017 -8.7 1.25 BLB 3 198631 Simple 180903875 G . CI 1 3 "not specified(LB);not specified(US);Epilepsy, progressive myoclonic 5(B)" 4/11/2017 -8.64 2.333333333 BLB 3 198635 Simple 138423466 A . CI 1 4 not specified(B);Brugada syndrome 4(B);Cardiovascular phenotype(LB);Brugada syndrome(US) 12/29/2017 -13.8 1.5 BLB 3 198667 Simple 141202420 A . CI 1 4 not specified(US);Emery-Dreifuss muscular dystrophy(LB);Cerebellar ataxia(LB);not specified(LB) 4/18/2017 -9.3 1 BLB 3 198671 Simple 41301343 A . CI 1 5 "not specified(LB);Cerebellar ataxia(LB);Emery-Dreifuss muscular dystrophy(LB);not specified(US);Spinocerebellar ataxia, autosomal recessive 8(US);Emery-Dreifuss muscular dystrophy 4, autosomal dominant(US)" 7/11/2017 -9.6 0.8 BLB 3 198673 Simple 111511993 A . CI 1 4 not specified(US);Cerebellar ataxia(LB);Emery-Dreifuss muscular dystrophy(LB);not specified(LB) 4/18/2017 -9.3 1 BLB 3 198675 Simple 140136749 A . CI 1 4 not specified(US);Emery-Dreifuss muscular dystrophy(LB);Cerebellar ataxia(LB);not specified(LB) 5/12/2017 -9.3 1 BLB 3 198680 Simple 112062179 T . CI 1 5 not specified(LB);Schwartz Jampel syndrome type 1(US);Dyssegmental Dysplasia(US);not specified(LB);not specified(LB) 5/4/2017 -9 1.4 BLB 3 198693 Simple 147405081 T . CI 1 5 not specified(US);Aortic valve disease 2(B);Holt-Oram syndrome(LB);not provided(LB);Cardiovascular phenotype(B) 4/17/2017 -17.64 1.6 BLB 3 198701 Simple 138703731 A . CI 1 3 not specified(LB);not specified(US);Monoamine oxidase A deficiency(B) 11/20/2017 -8.64 2 BLB 3 198703 Simple 143174377 T . CI 1 5 not specified(B);Joubert syndrome(US);Nephronophthisis(US);Renal dysplasia and retinal aplasia(US);Nephronophthisis(LB) 5/2/2017 -8.7 1.4 BLB 3 198758 Simple 142955097 G . CI 1 4 not specified(B);Short Rib Polydactyly Syndrome(US);Cranioectodermal dysplasia(US);Cranioectodermal dysplasia 2(LB);Short rib polydactyly syndrome 5(LB) 6/21/2017 -8.4 1.25 BLB 3 198766 Simple 185594460 T . CI 1 4 "not specified(LB);Congenital Muscular Dystrophy, alpha-dystroglycan related(US);Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7(LB);Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7(LB);not specified(LB)" 1/5/2018 -9.3 0.5 BLB 3 198777 Simple 144884147 G . CI 1 5 "not specified(US);Stickler Syndrome, Dominant(LB);Fibrochondrogenesis(LB);Marshall syndrome(LB);not specified(US)" 2/6/2017 -9.54 1.4 BLB 3 198778 Simple 148157556 T . CI 1 3 "not specified(B);Spinal muscular atrophy(US);Spinal muscular atrophy, distal, autosomal recessive, 1(B);Charcot-Marie-Tooth disease, axonal, type 2S(B)" 1/11/2018 -11.1 1.333333333 BLB 3 198796 Simple 146630369 C . CI 1 4 not specified(US);Vitreoretinopathy(LB);Wagner syndrome(LB);Wagner syndrome(LB) 6/14/2016 -9.24 1.5 BLB 3 198801 Simple 160278 G . CI 1 4 not specified(US);Wagner syndrome(LB);Wagner syndrome(LB);Vitreoretinopathy(LB) 6/14/2016 -9.24 1.5 BLB 3 198835 Simple 199946797 T . CI 1 6 Diabetes mellitus AND insipidus with optic atrophy AND deafness(LP);not specified(US);not provided(LP);Monogenic diabetes(US);Wolfram syndrome(LP);WFS1-Related Disorders(LP) 9/5/2017 9.6 1.833333333 PLP 3 198873 Simple 73945001 G . CI 1 4 not specified(US);Alstrom syndrome(B);Monogenic diabetes(LB);not specified(US) 5/23/2017 -9.24 1.75 BLB 3 198896 Simple 146651455 T . CI 1 4 "not specified(B);Distal spinal muscular atrophy(US);not specified(LB);Distal spinal muscular atrophy, autosomal recessive 4(B);Charcot-Marie-Tooth disease, recessive intermediate c(B)" 12/29/2017 -14.1 1 BLB 3 198967 Simple 138217960 T . CI 1 4 "not specified(B);Nemaline Myopathy, Recessive(US);not specified(LB);Nemaline myopathy 2(B)" 12/4/2017 -14.1 1.25 BLB 3 198987 Simple 146692150 G . CI 1 4 "not specified(US);not specified(LB);Menkes kinky-hair syndrome(B);Cutis laxa, X-linked(B);Distal spinal muscular atrophy, X-linked 3(B);not specified(LB)" 8/24/2017 -11.04 2 BLB 3 198991 Simple 61736827 T . CI 1 6 "not specified(US);not specified(B);Ehlers-Danlos syndrome, classic type(B);Ehlers-Danlos syndrome, type 7A(US);not specified(B);Cardiovascular phenotype(LB)" 10/14/2017 -20.04 1.666666667 BLB 3 199018 Simple 150677536 G . CI 1 5 not specified(B);not specified(B);Bifunctional peroxisomal enzyme deficiency(US);Perrault syndrome(US);not specified(LB) 10/10/2017 -13.2 1.6 BLB 3 199044 Simple 2230288 T . CI 1 3 "not specified(B);Gaucher's disease, type 1(B);not provided(LB)" 10/31/2017 -13.8 1.666666667 BLB 3 199083 Simple 794727970 A . CI 1 3 not specified(US);not provided(LP);Early infantile epileptic encephalopathy 4(P) 5/15/2017 8.46 2 PLP 3 199111 Simple 41314035 A . CI 1 19 "not specified(US);not specified(LB);Charcot-Marie-Tooth disease, type 2(LB);Congenital muscular dystrophy, LMNA-related(LB);Hutchinson-Gilford syndrome(LB);Familial partial lipodystrophy(LB);Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules(LB);Dilated Cardiomyopathy, Dominant(LB);Hutchinson-Gilford syndrome(LB);Limb-Girdle Muscular Dystrophy, Recessive(LB);Lethal tight skin contracture syndrome(LB);Charcot-Marie-Tooth, Type 2(LB);Mandibuloacral dysplasia(LB);Hutchinson-Gilford syndrome(LB);Emery-Dreifuss muscular dystrophy(LB);not specified(B);not specified(US);not provided(B);Cardiovascular phenotype(LB)" 1/5/2018 -56.25 1.368421053 B 3 199125 Simple 200161705 T . CI 1 4 "not specified(LB);Motor neuron disease(LP);not specified(LB);Short rib-polydactyly syndrome, Majewski type(B)" 3/1/2018 -8.4 1 BLB 3 199217 Simple 539194350 A . CI 1 7 "not specified(US);Neuromuscular disease, congenital, with uniform type 1 fiber(LB);Multiminicore Disease(LB);Central core disease(LB);Malignant hyperthermia susceptibility(LB);not specified(US);RYR1-Related Disorders(LB)" 12/5/2017 -15.54 1.142857143 BLB 3 199224 Simple 148095660 T . CI 1 4 "not specified(B);Nemaline Myopathy, Recessive(US);not specified(B);Nemaline myopathy 2(B)" 12/19/2017 -17.1 1.25 BLB 3 199241 Simple 374156904 T . CI 1 5 "not specified(LB);not specified(LB);not specified(LB);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Cardiovascular phenotype(US)" 12/29/2017 -13.98 2.2 BLB 3 199698 Simple 41263775 G . CI 1 5 "not specified(LB);Cardiovascular phenotype(US);Ehlers-Danlos syndrome, type 4(B);not specified(LB);not provided(B)" 12/29/2017 -18.24 1.2 BLB 3 199737 Simple 139619440 A . CI 1 5 "not specified(LB);Ehlers-Danlos syndrome, type 4(B);Ehlers-Danlos syndrome, type 4(LB);not specified(LB);Cardiovascular phenotype(US)" 3/20/2017 -15.27 1.2 BLB 3 199875 Simple 139799237 A . CI 1 8 "not specified(US);not specified(US);Cardiomyopathy, ARVC(LB);Skin fragility woolly hair syndrome(LB);Ectodermal dysplasia skin fragility syndrome(LB);Epidermolysis bullosa, lethal acantholytic(LB);Dilated cardiomyopathy with woolly hair and keratoderma(US);Arrhythmogenic right ventricular cardiomyopathy, type 8(US);Cardiovascular phenotype(US)" 12/19/2017 -13.11 1.125 BLB 3 199960 Simple 142888621 A . CI 1 11 not specified(US);Cardiovascular phenotype(US);MASS syndrome(LB);Ectopia lentis(LB);Acromicric dysplasia(LB);Geleophysic dysplasia(LB);Marfan syndrome(LB);Stiff skin syndrome(LB);Thoracic aortic aneurysm and aortic dissection(LB);Weill-Marchesani syndrome(LB);Marfan syndrome(US);Thoracic aortic aneurysm and aortic dissection(US) 11/15/2017 -24.9 0.909090909 BLB 3 200027 Simple 200342067 C . CI 1 12 not specified(US);Acromicric dysplasia(LB);Weill-Marchesani syndrome(LB);Stiff skin syndrome(LB);Geleophysic dysplasia(LB);Thoracic aortic aneurysm and aortic dissection(LB);Ectopia lentis(LB);Marfan syndrome(LB);MASS syndrome(LB);Marfan syndrome(B);Thoracic aortic aneurysm and aortic dissection(B);not provided(LB);Cardiovascular phenotype(US) 1/1/2018 -33.45 1.333333333 B 3 200063 Simple 761857514 T . CI 1 4 not provided(LP);Marfan syndrome(US);Thoracic aortic aneurysm and aortic dissection(US);Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections(LP);Cardiovascular phenotype(LP) 4/27/2017 8.4 1.25 PLP 3 200245 Simple 72549418 T . CI 1 4 not specified(B);Cardiovascular phenotype(LB);Long QT syndrome(US);Long QT syndrome(LB) 12/29/2017 -10.5 1.25 BLB 3 200272 Simple 144338227 C . CI 1 5 not specified(B);not specified(US);Long QT syndrome(US);Long QT syndrome(B);Cardiovascular phenotype(LB) 11/29/2017 -12.87 2 BLB 3 200600 Simple 551056698 - . CI 1 7 not specified(LB);Long QT syndrome 2(LB);Cardiovascular phenotype(B);not specified(US);Long QT syndrome(B);Long QT syndrome 1(LB);not provided(B) 1/11/2018 -26.97 1 B 3 200864 Simple 11601907 G . CI 1 6 not specified(US);Jervell and Lange-Nielsen syndrome(B);short QT syndrome(B);KCNQ1-Related Disorders(US);not specified(US);Long QT syndrome(US) 8/26/2017 -13.2 0.833333333 BLB 3 200920 Simple 768563000 A . CI 1 5 Familial hypercholesterolemia(LP);Familial hypercholesterolemia(LB);Familial hypercholesterolemia(P);not provided(P);Familial hypercholesterolemias(P) 3/30/2017 17.1 1.4 P 3 200921 Simple 730882109 T . CI 1 6 Familial hypercholesterolemia(LP);Familial hypercholesterolemia(LB);Familial hypercholesterolemia(P);Familial hypercholesterolemia(P);not provided(P);Familial hypercholesterolemia(P) 11/10/2017 21.9 1.5 P 3 201024 Simple 111936548 C . CI 1 5 "not specified(LB);Aortic aneurysm, familial thoracic 4(LB);Cardiovascular phenotype(US);Thoracic aortic aneurysm and aortic dissection(US);not provided(B)" 1/15/2018 -12 0.6 BLB 3 201026 Simple 112861184 G . CI 1 4 "not specified(B);Aortic aneurysm, familial thoracic 4(B);Cardiovascular phenotype(LB);Thoracic aortic aneurysm and aortic dissection(US)" 12/14/2017 -13.5 1.75 BLB 3 201029 Simple 794728662 C . CI 1 4 "Thoracic aortic aneurysm and aortic dissection(B);Aortic aneurysm, familial thoracic 4(US);Cardiovascular phenotype(US);not provided(B)" 7/5/2016 -11.25 2.75 BLB 3 201031 Simple 141159831 T . CI 1 5 "Cardiovascular phenotype(B);Thoracic aortic aneurysm and aortic dissection(US);Lissencephaly, Recessive(US);Aortic aneurysm, familial thoracic 4(B);not specified(B)" 12/12/2017 -16.2 1.6 BLB 3 201041 Simple 111588143 T . CI 1 3 "not specified(B);Aortic aneurysm, familial thoracic 4(B);Aortic aneurysm, familial thoracic 4(US)" 12/30/2017 -11.67 1.333333333 BLB 3 201044 Simple 113667224 A . CI 1 6 "not specified(LB);Aortic aneurysm, familial thoracic 6(LB);Cardiovascular phenotype(LB);Thoracic aortic aneurysm and aortic dissection(US);Aortic aneurysm, familial thoracic 4(LB);Aortic aneurysm, familial thoracic 4(LB)" 2/14/2018 -14.7 0.833333333 BLB 3 201046 Simple 61734199 T . CI 1 8 "Thoracic aortic aneurysm and aortic dissection(LB);Thoracic aortic aneurysm and aortic dissection(US);Aortic aneurysm, familial thoracic 4(B);not provided(B);not specified(B);Cardiovascular phenotype(LB);Aortic aneurysm, familial thoracic 4(LB);not specified(B)" 1/2/2018 -31.2 1.375 B 3 201068 Simple 7196804 T . CI 1 5 "not specified(LB);Cardiovascular phenotype(B);Lissencephaly, Recessive(US);Aortic aneurysm, familial thoracic 4(LB);not specified(LB)" 1/2/2018 -14.7 0.8 BLB 3 201158 Simple 145044872 A . CI 1 8 "not specified(LB);Malignant hypothermia(US);Central core disease(LB);Multiminicore Disease(LB);Neuromuscular disease, congenital, with uniform type 1 fiber(LB);Malignant hyperthermia susceptibility(LB);RYR1-Related Disorders(LB);not specified(US)" 1/12/2018 -18.57 0.875 BLB 3 201165 Simple 367992907 A . CI 1 5 "not specified(B);Cardiomyopathy, ARVC(US);Catecholaminergic polymorphic ventricular tachycardia(US);Catecholaminergic polymorphic ventricular tachycardia(LB);Cardiovascular phenotype(LB)" 1/2/2018 -11.4 1.2 BLB 3 201172 Simple 185237690 G . CI 1 4 not specified(LB);Catecholaminergic polymorphic ventricular tachycardia type 1(US);Catecholaminergic polymorphic ventricular tachycardia(LB);Cardiovascular phenotype(LB) 11/16/2017 -9.27 0.75 BLB 3 201176 Simple 371088367 A . CI 1 5 "not specified(B);Cardiovascular phenotype(LB);Cardiomyopathy, ARVC(US);Catecholaminergic polymorphic ventricular tachycardia(US);Catecholaminergic polymorphic ventricular tachycardia(B)" 10/3/2017 -14.1 1.4 BLB 3 201215 Simple 794728721 A . CI 1 2 not provided(P);Cardiovascular phenotype(P) 5/3/2017 12 1 PLP 3 201611 Simple 141025897 G . CI 1 6 "not specified(B);Hypertrichotic osteochondrodysplasia(US);Dilated Cardiomyopathy, Dominant(US);Familial atrial fibrillation(US);Dilated cardiomyopathy 1O(B);Cardiovascular phenotype(LB)" 11/28/2017 -14.7 1.166666667 BLB 3 201642 Simple 200631005 G . CI 1 3 not specified(LB);Dilated cardiomyopathy 1AA(B);Primary familial hypertrophic cardiomyopathy(B);Cardiovascular phenotype(LB) 2/13/2018 -11.7 0.666666667 BLB 3 201656 Simple 1064793018 - . CI 1 6 "Cardiomyopathy(B);Dilated Cardiomyopathy, Dominant(LB);Dilated Cardiomyopathy, Dominant(US);not specified(B);Total anomalous pulmonary venous return(B);Total anomalous pulmonary venous return(B)" 11/28/2016 -24.3 1.833333333 BLB 3 201675 Simple 147259596 A . CI 1 4 "not specified(B);Myofibrillar myopathy, BAG3-related(LB);Dilated cardiomyopathy 1HH(LB);Dilated Cardiomyopathy, Dominant(US);Myofibrillar Myopathy, Dominant(US)" 11/20/2017 -8.4 1.25 BLB 3 201731 Simple 371648742 C . CI 1 3 not specified(LB);not specified(US);Duchenne muscular dystrophy(B) 6/19/2017 -9 1 BLB 3 201740 Simple 138399787 T . CI 1 3 not specified(LB);not specified(US);Duchenne muscular dystrophy(B) 1/24/2017 -9.27 1.333333333 BLB 3 201788 Simple 114115159 G . CI 1 3 not specified(LB);not specified(LB);Primary familial hypertrophic cardiomyopathy(LB) 11/27/2017 -8.4 1 BLB 3 201796 Simple 554853074 C . CI 1 5 not specified(LB);not specified(US);Cardiovascular phenotype(B);Hypertrophic cardiomyopathy(B);not specified(LB) 11/9/2017 -17.67 1 BLB 3 201798 Simple 558770240 G . CI 1 6 not specified(B);Hypertrophic cardiomyopathy(B);not specified(B);Cardiovascular phenotype(B);not specified(B);Familial hypertrophic cardiomyopathy 17(US) 12/28/2017 -29.7 1 B 3 202084 Simple 190935424 C . CI 1 4 "not specified(B);not specified(US);Limb-girdle muscular dystrophy, type 2F(LB);Cardiovascular phenotype(LB)" 6/28/2016 -9.87 2.75 BLB 3 202283 Simple 367732133 G . CI 1 10 "not specified(B);not specified(LB);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Dilated Cardiomyopathy, Dominant(US);Distal myopathy Markesbery-Griggs type(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Hypertrophic cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Cardiovascular phenotype(LB)" 10/17/2017 -18 1.3 BLB 3 202368 Simple 749705939 T . CI 1 3 "not provided(P);not specified(US);Dilated cardiomyopathy 1G(P);Limb-girdle muscular dystrophy, type 2J(P)" 9/18/2017 11.7 0.333333333 PLP 3 202509 Simple 768431507 A . CI 1 2 not provided(P);Dilated cardiomyopathy 1G(LP) 8/7/2017 9 0.5 PLP 3 202742 Simple 563969986 C . CI 1 5 "not specified(LB);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(US);not specified(B);Cardiovascular phenotype(B)" 12/27/2017 -21.27 1 BLB 3 202874 Simple 369707906 T . CI 1 10 "not specified(B);not specified(LB);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(LB);Myopathy, early-onset, with fatal cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Distal myopathy Markesbery-Griggs type(US);Hereditary myopathy with early respiratory failure(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Hypertrophic cardiomyopathy(US)" 1/11/2018 -18.9 1.2 BLB 3 202942 Simple 72648228 C . CI 1 4 "not specified(LB);Cardiovascular phenotype(LB);not specified(US);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB)" 12/28/2017 -9.3 0.5 BLB 3 202990 Simple 186234393 C . CI 1 10 "not specified(LB);Cardiovascular phenotype(LB);not specified(LB);Hereditary myopathy with early respiratory failure(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Hypertrophic cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Distal myopathy Markesbery-Griggs type(US);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB)" 2/20/2018 -13.2 1.1 BLB 3 203270 Simple 370812788 C . CI 1 5 "not specified(LB);not specified(LB);Cardiovascular phenotype(US);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(US)" 11/20/2017 -11.88 2 BLB 3 203271 Simple 117551279 T . CI 1 3 "not specified(LB);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(US)" 8/3/2017 -9.3 0.666666667 BLB 3 203281 Simple 747240394 T . CI 1 4 "not specified(US);not specified(LB);not specified(LB);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB)" 11/27/2017 -8.7 1.25 BLB 3 203302 Simple 375627540 T . CI 1 10 "not specified(B);not specified(LB);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(LB);Dilated Cardiomyopathy, Dominant(US);Hereditary myopathy with early respiratory failure(US);Hypertrophic cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Distal myopathy Markesbery-Griggs type(US)" 1/11/2018 -18.9 1.2 BLB 3 203540 Simple 201375579 G . CI 1 3 not provided(P);Medium-chain acyl-coenzyme A dehydrogenase deficiency(P);Medium-chain acyl-coenzyme A dehydrogenase deficiency(US) 9/5/2017 10.5 1.333333333 PLP 3 203644 Simple 138779023 C . CI 1 4 "not specified(B);Congenital hyperammonemia, type I(US);Congenital hyperammonemia, type I(LB);Congenital hyperammonemia, type I(B)" 1/2/2018 -14.1 1 BLB 3 203749 Simple 72851534 T . CI 1 3 not specified(B);Mitochondrial trifunctional protein deficiency(US);Trifunctional protein deficiency with myopathy and neuropathy(B) 12/14/2017 -11.1 1.333333333 BLB 3 203750 Simple 57969630 G . CI 1 3 not specified(B);Mitochondrial trifunctional protein deficiency(US);Trifunctional protein deficiency with myopathy and neuropathy(B) 12/14/2017 -12.3 0.666666667 BLB 3 203751 Simple 56902571 T . CI 1 3 not specified(B);Mitochondrial trifunctional protein deficiency(US);Trifunctional protein deficiency with myopathy and neuropathy(B) 12/14/2017 -11.1 1.333333333 BLB 3 203805 Simple 150591260 A . CI 1 2 not provided(P);3-methylcrotonyl CoA carboxylase 2 deficiency(P) 10/31/2017 12 1 PLP 3 203840 Simple 139206262 A . CI 1 3 "not specified(B);Disorders of Intracellular Cobalamin Metabolism(US);Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type(B)" 12/22/2017 -11.1 1.333333333 BLB 3 203843 Simple 138085432 C . CI 1 3 not specified(B);Methylmalonic acidemia(US);not specified(B) 1/31/2017 -11.1 1.666666667 BLB 3 204016 Simple 115014558 A . CI 1 2 not specified(B);not specified(B) 3/28/2016 -10.8 2 BLB 3 204020 Simple 34885252 G . CI 1 2 not specified(B);Primary hyperoxaluria(LB) 6/22/2016 -9 1 BLB 3 204056 Simple 13408961 A . CI 1 2 Primary hyperoxaluria(LB);not provided(B) 9/1/2016 -9 1 BLB 3 204220 Simple 2736664 T . CI 1 3 Primary hyperoxaluria(B);not specified(B);not specified(B) 10/27/2016 -17.4 1.333333333 BLB 3 204264 Simple 12261752 A . CI 1 2 Primary hyperoxaluria(B);not specified(B) 6/14/2016 -11.4 1.5 BLB 3 204939 Simple 200662010 C . CI 1 7 "not specified(US);not specified(US);not specified(LB);Juvenile myoclonic epilepsy(LB);Episodic ataxia(LB);Idiopathic generalized epilepsy(LB);Epilepsy, idiopathic generalized 9(US);Episodic ataxia, type 5(US)" 1/8/2018 -12.51 1.428571429 BLB 3 205123 Simple 202118652 C . CI 1 5 "not specified(LB);Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive(US);not provided(LB);Neuronal ceroid lipofuscinosis(B);not specified(B)" 10/19/2017 -18.3 0.6 BLB 3 205125 Simple 146993892 T . CI 1 4 "not specified(LB);Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive(US);not specified(US);Neuronal ceroid lipofuscinosis(B)" 2/23/2018 -9.6 0.5 BLB 3 205216 Simple 770951811 A . CI 1 6 not specified(B);not specified(US);Pitt-Hopkins-like syndrome(US);Cortical dysplasia-focal epilepsy syndrome(US);Cortical dysplasia-focal epilepsy syndrome(LB);not specified(US) 1/23/2017 -8.97 1.5 BLB 3 205383 Simple 139197513 T . CI 1 3 not specified(US);Epilepsy juvenile absence(B);Juvenile myoclonic epilepsy(B);not specified(LB) 10/27/2017 -8.97 1.333333333 BLB 3 205384 Simple 79761183 A . CI 1 5 not specified(B);not provided(LB);Epilepsy juvenile absence(B);Juvenile myoclonic epilepsy(B);not specified(US);not specified(LB) 12/20/2017 -17.67 1.2 BLB 3 205400 Simple 149055334 A . CI 1 5 not specified(B);not provided(LB);Epilepsy juvenile absence(B);Juvenile myoclonic epilepsy(B);not specified(US);not specified(LB) 12/20/2017 -17.67 1.2 BLB 3 205613 Simple 148564534 A . CI 1 3 not specified(LB);not provided(US);Arginine:glycine amidinotransferase deficiency(B) 12/27/2017 -9.3 0.333333333 BLB 3 205627 Simple 113817924 A . CI 1 4 not specified(B);not specified(B);Progressive myoclonic epilepsy(US);Progressive myoclonic epilepsy(LB) 10/12/2017 -14.1 1.25 BLB 3 205629 Simple 143754727 T . CI 1 3 not specified(LB);Progressive myoclonic epilepsy(US);Progressive myoclonic epilepsy(B) 11/13/2017 -9.3 0.333333333 BLB 3 205679 Simple 145063086 C . CI 1 7 "not specified(LB);not specified(US);not specified(US);Epilepsy, focal, with speech disorder and with or without mental retardation(LB);Focal epilepsy(US);not provided(LB);Epilepsy, focal, with speech disorder and with or without mental retardation(LB)" 12/18/2017 -12.87 0.857142857 BLB 3 205683 Simple 77029288 C . CI 1 9 "not specified(B);not specified(US);Epilepsy, focal, with speech disorder and with or without mental retardation(LB);not specified(US);not specified(LB);Epilepsy, focal, with speech disorder and with or without mental retardation(LB);Inborn genetic diseases(LB);Epilepsy, focal, with speech disorder and with or without mental retardation(LB);Epilepsy, focal, with speech disorder and with or without mental retardation(LB)" 11/18/2017 -23.94 1.222222222 BLB 3 205703 Simple 141886903 A . CI 1 3 "not specified(B);Intellectual Disability, Dominant(US);Mental retardation, autosomal dominant 6(B);Epileptic encephalopathy, early infantile, 27(B)" 11/19/2017 -11.1 1.333333333 BLB 3 205720 Simple 138771137 A . CI 1 3 "not specified(LB);Mental retardation, autosomal dominant 6(B);Epileptic encephalopathy, early infantile, 27(B);not specified(US)" 5/23/2017 -9.27 1.333333333 BLB 3 205770 Simple 149566146 A . CI 1 4 not specified(LB);Intellectual disability syndrome(LB);not specified(LB);Koolen-de Vries syndrome(US) 1/12/2018 -9.3 0.5 BLB 3 205867 Simple 796052621 T . CI 1 2 not provided(P);Inborn genetic diseases(P) 9/30/2016 11.4 1.5 PLP 3 205988 Simple 150821246 T . CI 1 5 not specified(LB);Benign Neonatal Epilepsy(LB);Benign familial neonatal seizures(LB);Benign familial neonatal seizures(US);not specified(LB) 11/2/2017 -12.3 0.8 BLB 3 205990 Simple 201328910 T . CI 1 5 not specified(US);not specified(US);Benign Neonatal Epilepsy(LB);Benign familial neonatal seizures(LB);Benign familial neonatal seizures(LB) 12/13/2017 -9.54 1.2 BLB 3 206053 Simple 370173652 C . CI 1 5 "not specified(B);Mental retardation, autosomal dominant 1(B);not specified(LB);Intellectual Disability, Dominant(US);not specified(B)" 10/3/2017 -19.8 1.4 BLB 3 206068 Simple 536900412 G . CI 1 4 "not specified(B);Intellectual Disability, Dominant(US);Mental retardation, autosomal dominant 1(B);not specified(LB)" 2/16/2017 -15.3 1 BLB 3 206095 Simple 145475623 T . CI 1 5 "not specified(LB);not specified(US);MBD5 associated neurodevelopmental disorder(LP);not specified(LB);Mental retardation, autosomal dominant 1(B)" 1/4/2018 -10.2 1.8 BLB 3 206206 Simple 200182626 A . CI 1 3 not specified(B);not specified(US);Pitt-Hopkins-like syndrome 2(B) 11/17/2017 -11.04 2 BLB 3 206207 Simple 201886024 G . CI 1 4 not specified(B);Pitt-Hopkins-like syndrome(US);Pitt-Hopkins-like syndrome 2(LB);not specified(LB) 12/5/2016 -10.8 1.75 BLB 3 206401 Simple 199919568 G . CI 1 5 not provided(LP);Early infantile epileptic encephalopathy 10(LP);Early infantile epileptic encephalopathy 12(US);Early infantile epileptic encephalopathy 10(P);Early infantile epileptic encephalopathy 10(P) 10/11/2017 17.4 0.8 P 3 206570 Simple 369544574 A . CI 1 4 not specified(LB);not specified(US);not specified(LB);Progressive sclerosing poliodystrophy(B) 2/12/2018 -11.94 1.25 BLB 3 206687 Simple 745594874 C . CI 1 3 not specified(LB);not specified(US);Dystonia 10(B) 12/5/2017 -9.27 0.666666667 BLB 3 206845 Simple 368834365 T . CI 1 3 not specified(US);Early infantile epileptic encephalopathy(LB);not specified(B) 7/25/2017 -9.3 0.666666667 BLB 3 206985 Simple 571408286 T . CI 1 5 "not specified(B);not specified(US);Benign familial neonatal-infantile seizures(LB);Early Infantile Epileptic Encephalopathy, Autosomal Dominant(LB);Benign familial neonatal-infantile seizures(B);Early infantile epileptic encephalopathy 11(B)" 11/12/2017 -17.64 1.4 BLB 3 207034 Simple 144814658 A . CI 1 7 "not specified(LB);not specified(US);not specified(US);Benign familial neonatal-infantile seizures(LB);Early Infantile Epileptic Encephalopathy, Autosomal Dominant(LB);Benign familial neonatal-infantile seizures(LB);Early infantile epileptic encephalopathy 11(LB);not specified(LB)" 12/28/2017 -15.54 1 BLB 3 207119 Simple 796053216 A . CI 1 5 not provided(P);Epileptic encephalopathy(LP);Early infantile epileptic encephalopathy(US);Early infantile epileptic encephalopathy 13(LP);Seizure Disorders(LP) 11/6/2017 14.4 1 PLP 3 207189 Simple 577667739 T . CI 1 4 "not specified(LB);Glucose transporter type 1 deficiency syndrome(LB);Dystonia(LB);GLUT1 deficiency syndrome 1, autosomal recessive(US)" 7/11/2017 -9.3 0.75 BLB 3 207408 Simple 561329680 T . CI 1 3 "not specified(B);Early infantile epileptic encephalopathy(B);Early Infantile Epileptic Encephalopathy, Autosomal Dominant(US)" 4/22/2017 -11.1 1.666666667 BLB 3 207459 Simple 145911562 C . CI 1 3 "not specified(LB);not specified(US);Epilepsy, X-linked, with variable learning disabilities and behavior disorders(B)" 5/15/2017 -8.64 2.333333333 BLB 3 207487 Simple 188739853 A . CI 1 4 "not specified(LB);not specified(LB);Myoclonic epilepsy, familial infantile(US);Epileptic encephalopathy, early infantile, 1(LB);Deafness, autosomal dominant 65(LB);Caused by mutation in the TBC1 domain family, member 24(LB)" 2/27/2018 -9 0.75 BLB 3 207488 Simple 766745103 T . CI 1 4 "not specified(B);not specified(LB);Myoclonic epilepsy, familial infantile(US);Epileptic encephalopathy, early infantile, 1(LB);Deafness, autosomal dominant 65(LB);Caused by mutation in the TBC1 domain family, member 24(LB)" 12/18/2017 -11.1 1 BLB 3 207600 Simple 200138397 A . CI 1 4 "not specified(LB);not specified(US);Neuronal Ceroid-Lipofuscinosis, Recessive(US);Neuronal ceroid lipofuscinosis(B)" 12/26/2017 -9.57 0.75 BLB 3 207615 Simple 118203660 C . CI 1 4 not specified(LB);Tuberous sclerosis 1(B);Focal cortical dysplasia type II(US);Tuberous sclerosis syndrome(US) 1/8/2018 -9.6 0.75 BLB 3 207620 Simple 753374839 C . CI 1 4 not specified(LB);Tuberous sclerosis 1(B);Focal cortical dysplasia type II(US);Tuberous sclerosis syndrome(US) 12/1/2017 -9.6 0.75 BLB 3 207673 Simple 137920189 G . CI 1 4 not specified(LB);Tuberous sclerosis 2(US);Tuberous sclerosis 2(B);Hereditary cancer-predisposing syndrome(US) 12/28/2017 -9.57 0.5 BLB 3 207680 Simple 377123510 T . CI 1 3 not specified(LB);Tuberous sclerosis 2(B);Hereditary cancer-predisposing syndrome(US) 2/12/2018 -9.3 0 BLB 3 207703 Simple 148325559 G . CI 1 3 not specified(LB);Tuberous sclerosis 2(B);Hereditary cancer-predisposing syndrome(US) 8/15/2017 -9.3 0.666666667 BLB 3 207708 Simple 202187148 T . CI 1 5 not specified(LB);Tuberous sclerosis 2(B);Tuberous sclerosis syndrome(US);not specified(LB);Hereditary cancer-predisposing syndrome(LB) 12/13/2017 -15.3 0.6 BLB 3 207728 Simple 562945619 G . CI 1 4 not specified(B);Tuberous sclerosis 2(B);Tuberous sclerosis syndrome(LB);Hereditary cancer-predisposing syndrome(US) 2/26/2018 -15.3 0.5 BLB 3 207764 Simple 770117004 G . CI 1 3 not specified(LB);Tuberous sclerosis 2(B);Tuberous sclerosis syndrome(US) 10/9/2017 -9.3 0.666666667 BLB 3 207787 Simple 574779350 T . CI 1 4 not specified(US);Tuberous sclerosis syndrome(LB);Tuberous sclerosis 2(B);Hereditary cancer-predisposing syndrome(US) 1/3/2018 -9.51 1.5 BLB 3 208413 Simple 141399869 A . CI 1 5 "not specified(US);not specified(US);Epileptic encephalopathy, early infantile, 1(LB);Deafness, autosomal dominant 65(LB);Caused by mutation in the TBC1 domain family, member 24(LB);not specified(US);not specified(B)" 10/19/2017 -8.64 1.4 BLB 3 208541 Simple 117209107 A . CI 1 3 "not specified(B);not specified(B);Limb-girdle muscular dystrophy-dystroglycanopathy, type C9(B);Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9(B)" 9/1/2017 -17.4 1 BLB 3 208612 Simple 138977195 A . CI 1 4 Familial hypokalemia-hypomagnesemia(US);not provided(P);Familial hypokalemia-hypomagnesemia(P);Muscle weakness(P);Hypokalemia(P);Hypermagnesemia(P);Myalgia(P) 1/1/2017 17.76 1.5 P 3 208643 Simple 797044849 G . CI 1 3 "Inborn genetic diseases(P);not provided(P);Mental retardation, autosomal dominant 6(US);Epileptic encephalopathy, early infantile, 27(US)" 8/8/2017 10.5 1.333333333 PLP 3 210024 Simple 76947760 T . CI 1 3 not provided(B);Brown-Vialetto-Van Laere syndrome 1(B);not specified(B) 12/29/2017 -18 0.333333333 BLB 3 210066 Simple 145136257 T . CI 1 4 "not specified(US);Transient Neonatal Diabetes, Dominant(LB);Hyperinsulinism, Dominant/Recessive(LB);Permanent neonatal diabetes mellitus(LB)" 6/14/2016 -9.27 1.25 BLB 3 210068 Simple 117874766 C . CI 1 4 "not specified(US);Transient Neonatal Diabetes, Dominant(LB);Permanent neonatal diabetes mellitus(LB);Hyperinsulinism, Dominant/Recessive(LB)" 6/14/2016 -9.27 1.25 BLB 3 210070 Simple 147623093 A . CI 1 4 "not specified(US);Hyperinsulinism, Dominant/Recessive(LB);Transient Neonatal Diabetes, Dominant(LB);Permanent neonatal diabetes mellitus(LB)" 6/14/2016 -9.27 1.25 BLB 3 210188 Simple 144420604 A . CI 1 4 not specified(LB);not specified(B);Hermansky-Pudlak syndrome(US);Hermansky Pudlak syndrome 2(B) 11/27/2017 -12.6 2 BLB 3 210189 Simple 139344924 T . CI 1 4 not specified(LB);Hermansky-Pudlak syndrome(US);Hermansky Pudlak syndrome 2(B);not specified(B) 12/14/2017 -12.6 2 BLB 3 210384 Simple 138886791 T . CI 1 4 not specified(US);not specified(LB);not specified(LB);not specified(B) 11/28/2017 -11.94 1.5 BLB 3 210393 Simple 143907597 G . CI 1 3 "not specified(US);not specified(B);Menkes kinky-hair syndrome(B);Cutis laxa, X-linked(B);Distal spinal muscular atrophy, X-linked 3(B)" 10/22/2017 -11.58 2.333333333 BLB 3 210557 Simple 764972478 GGT . CI 1 4 "not specified(US);not specified(B);not provided(LB);Episodic ataxia type 2(B);Epileptic encephalopathy, early infantile, 42(B)" 8/7/2017 -15.24 1.25 BLB 3 210615 Simple 143790434 T . CI 1 3 not specified(US);not specified(B);not provided(LB) 11/11/2016 -8.64 2 BLB 3 210717 Simple 202141372 C . CI 1 4 not specified(US);not specified(LB);CHARGE association(LB);not provided(B) 2/10/2017 -11.34 2 BLB 3 210860 Simple 199679500 A . CI 1 3 "not specified(US);Charcot-Marie-Tooth disease, axonal, type 2O(B);not specified(LB)" 12/26/2017 -9.24 1 BLB 3 210866 Simple 150286673 T . CI 1 4 "not specified(US);Charcot-Marie-Tooth disease, axonal, type 2O(B);not specified(LB);not specified(LB)" 2/15/2018 -12.24 1 BLB 3 210868 Simple 199763298 T . CI 1 5 "not specified(LB);Charcot-Marie-Tooth disease, axonal, type 2O(B);Charcot-Marie-Tooth, Type 2(US);Spinocerebellar Ataxia, Dominant(US);Intellectual Disability, Dominant(US)" 12/22/2017 -9.6 1 BLB 3 210870 Simple 186932188 A . CI 1 6 "not specified(US);Charcot-Marie-Tooth, Type 2(US);Spinocerebellar Ataxia, Dominant(US);Intellectual Disability, Dominant(US);not specified(B);Charcot-Marie-Tooth disease, axonal, type 2O(B)" 2/28/2017 -12.54 1.5 BLB 3 210871 Simple 149395439 T . CI 1 5 "not specified(B);Charcot-Marie-Tooth disease, axonal, type 2O(B);Intellectual Disability, Dominant(US);Spinocerebellar Ataxia, Dominant(US);Charcot-Marie-Tooth, Type 2(US)" 1/3/2018 -12.3 1 BLB 3 210875 Simple 150888094 C . CI 1 7 "not specified(LB);not specified(LB);Spinocerebellar Ataxia, Dominant(US);Intellectual Disability, Dominant(US);Charcot-Marie-Tooth, Type 2(US);not specified(LB);Charcot-Marie-Tooth disease, axonal, type 2O(B)" 12/20/2017 -15.3 1 BLB 3 210878 Simple 17541165 T . CI 1 6 "not specified(B);Charcot-Marie-Tooth disease, axonal, type 2O(B);Spinocerebellar Ataxia, Dominant(US);Charcot-Marie-Tooth, Type 2(US);Intellectual Disability, Dominant(US);not specified(B)" 12/29/2017 -17.7 1.166666667 BLB 3 210880 Simple 145487328 T . CI 1 3 "not specified(US);not specified(LB);Charcot-Marie-Tooth disease, axonal, type 2O(B)" 1/12/2018 -9.24 1 BLB 3 210887 Simple 34338935 T . CI 1 5 "not specified(US);Charcot-Marie-Tooth disease, axonal, type 2O(B);not specified(B);not specified(LB);not specified(B)" 6/2/2017 -21.24 1.2 BLB 3 210930 Simple 565065320 G . CI 1 4 not specified(US);not specified(US);Chromosome 9q deletion syndrome(LB);Chromosome 9q deletion syndrome(B) 10/12/2017 -9.51 1.5 BLB 3 210996 Simple 78727187 T . CI 1 6 Cardiovascular phenotype(LB);Congenital contractural arachnodactyly(LB);Congenital contractural arachnodactyly(B);not specified(LB);not specified(US);not specified(B) 12/27/2017 -21.21 1.166666667 BLB 3 210998 Simple 149071226 A . CI 1 5 not specified(US);not specified(US);Congenital contractural arachnodactyly(LB);Congenital contractural arachnodactyly(B);Cardiovascular phenotype(LB) 9/4/2017 -12.27 1.2 BLB 3 210999 Simple 28763926 G . CI 1 6 not specified(LB);not specified(US);Congenital contractural arachnodactyly(LB);Cardiovascular phenotype(LB);Congenital contractural arachnodactyly(LB);not provided(LB) 12/21/2017 -14.7 1 BLB 3 211002 Simple 116413101 C . CI 1 4 not specified(US);not specified(B);Congenital contractural arachnodactyly(B);Cardiovascular phenotype(LB) 12/28/2017 -13.74 2 BLB 3 211014 Simple 188212919 A . CI 1 3 "not specified(US);Periventricular nodular heterotopia 1(B);Melnick-Needles syndrome(B);Oto-palato-digital syndrome, type II(B);Frontometaphyseal dysplasia(B);not specified(B)" 4/26/2017 -12.24 1.666666667 BLB 3 211026 Simple 200502811 C . CI 1 4 "not specified(LB);not specified(LB);Myofibrillar myopathy, filamin C-related(B);Myopathy, distal, 4(B);Cardiomyopathy, familial hypertrophic, 26(B);Dilated Cardiomyopathy, Dominant(B);not specified(US)" 1/2/2018 -11.7 1.25 BLB 3 211112 Simple 141473515 C . CI 1 3 "not specified(US);not specified(B);Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant(B)" 8/11/2017 -12.24 1.333333333 BLB 3 211121 Simple 147373250 A . CI 1 4 "not specified(US);not specified(B);Mental retardation, autosomal dominant 6(B);Epileptic encephalopathy, early infantile, 27(B);Mental retardation, autosomal dominant 6(LB)" 8/25/2017 -14.64 1.25 BLB 3 211134 Simple 376049260 A . CI 1 4 "not specified(US);not specified(LB);not specified(LB);Mental retardation 3, X-linked(B)" 12/7/2017 -12.24 1.25 BLB 3 211153 Simple 149830675 C . CI 1 5 Hermansky-Pudlak syndrome(US);not specified(B);not specified(LB);Hermansky-Pudlak syndrome 4(LB);not specified(US) 6/22/2017 -12.54 1.2 BLB 3 211187 Simple 56066516 A . CI 1 5 not specified(LB);not specified(US);Insulin-resistant diabetes mellitus AND acanthosis nigricans(LB);Leprechaunism syndrome(LB);Pineal hyperplasia AND diabetes mellitus syndrome(LB) 8/9/2016 -12.27 1.2 BLB 3 211190 Simple 143523271 A . CI 1 5 not specified(US);not specified(US);Insulin-resistant diabetes mellitus AND acanthosis nigricans(LB);Leprechaunism syndrome(LB);Pineal hyperplasia AND diabetes mellitus syndrome(LB) 6/14/2016 -9.54 1.4 BLB 3 211195 Simple 146588336 C . CI 1 6 not specified(US);not specified(US);Insulin-resistant diabetes mellitus AND acanthosis nigricans(LB);Pineal hyperplasia AND diabetes mellitus syndrome(LB);Leprechaunism syndrome(LB);Monogenic diabetes(LB) 6/14/2016 -12.24 1.5 BLB 3 211211 Simple 113651939 C . CI 1 5 "not specified(B);Congenital Muscular Dystrophy, ITGA7-related(US);not provided(LB);Muscular dystrophy, congenital, due to integrin alpha-7 deficiency(B);not specified(LB)" 11/28/2017 -17.1 1.2 BLB 3 211212 Simple 144699549 A . CI 1 5 "not specified(B);Congenital Muscular Dystrophy, ITGA7-related(US);not specified(LB);Muscular dystrophy, congenital, due to integrin alpha-7 deficiency(B);not specified(LB)" 11/28/2017 -17.1 1.4 BLB 3 211244 Simple 138282349 A . CI 1 4 "not specified(US);not specified(LB);not specified(LB);Early infantile epileptic encephalopathy 14(LB);Epilepsy, nocturnal frontal lobe, 5(LB)" 2/5/2018 -8.94 1.25 BLB 3 211278 Simple 199996308 A . CI 1 7 "not specified(US);not specified(B);Intellectual Disability, Dominant(LB);Hereditary sensory and autonomic neuropathy type II(LB);Spastic Paraplegia, Recessive(LB);Spastic paraplegia 30, autosomal recessive(B);Hereditary sensory and autonomic neuropathy type IIC(B);Mental retardation, autosomal dominant 9(B);not specified(B)" 10/17/2017 -26.67 1.142857143 BLB 3 211280 Simple 140783695 C . CI 1 6 "not specified(US);Spastic Paraplegia, Recessive(US);Intellectual Disability, Dominant(US);Hereditary sensory and autonomic neuropathy type II(US);not specified(LB);Spastic paraplegia 30, autosomal recessive(B);Hereditary sensory and autonomic neuropathy type IIC(B);Mental retardation, autosomal dominant 9(B)" 12/5/2017 -10.14 1 BLB 3 211281 Simple 186881889 G . CI 1 4 "not specified(US);not specified(B);not specified(LB);Spastic paraplegia 30, autosomal recessive(B);Hereditary sensory and autonomic neuropathy type IIC(B);Mental retardation, autosomal dominant 9(B)" 12/29/2017 -14.04 1.75 BLB 3 211284 Simple 370286749 C . CI 1 5 "not specified(US);not specified(B);not specified(LB);Spastic paraplegia 30, autosomal recessive(B);Hereditary sensory and autonomic neuropathy type IIC(B);Mental retardation, autosomal dominant 9(B);not specified(US)" 11/4/2017 -14.34 1.6 BLB 3 211350 Simple 41285286 G . CI 1 5 "not specified(LB);Congenital Muscular Dystrophy, LAMA2-related(US);not specified(LB);not specified(LB);Laminin alpha 2-related dystrophy(LB)" 1/22/2018 -12 0.8 BLB 3 211375 Simple 3093764 G . CI 1 5 not specified(LB);Lig4 syndrome(US);Severe combined immunodeficiency with sensitivity to ionizing radiation(US);not specified(LB);Lig4 syndrome(B) 11/22/2017 -11.7 1.4 BLB 3 211430 Simple 186504463 G . CI 1 3 "not specified(LB);Intellectual Disability, Recessive(US);Mental retardation, autosomal recessive 15(B)" 8/14/2017 -9 1 BLB 3 211459 Simple 140191561 C . CI 1 3 not specified(US);not specified(LB);Severe neonatal-onset encephalopathy with microcephaly(B) 10/24/2017 -9.18 2 BLB 3 211469 Simple 138984044 A . CI 1 4 not specified(US);not specified(LB);FG syndrome(B);Cardiovascular phenotype(B) 8/9/2017 -14.34 1.75 BLB 3 211502 Simple 111315726 T . CI 1 4 not specified(LB);Joubert syndrome(B);Meckel-Gruber syndrome(B);not provided(US);not specified(LB) 9/20/2017 -11.97 1.25 BLB 3 211587 Simple 146616621 C . CI 1 4 not specified(US);not specified(LB);Nemaline myopathy 2(LB);not specified(B) 1/4/2018 -12.21 1.25 BLB 3 211590 Simple 34532796 G . CI 1 3 not specified(US);not specified(B);Nemaline myopathy 2(B) 1/23/2018 -12.24 1 BLB 3 211669 Simple 151314714 T . CI 1 4 not specified(US);not specified(LB);Atrial septal defect 7 with or without atrioventricular conduction defects(B);Cardiovascular phenotype(LB) 1/25/2018 -11.94 1.25 BLB 3 211683 Simple 55724504 A . CI 1 4 Niemann-Pick disease type C1(B);not specified(LB);Niemann-Pick disease type C1(LB);not specified(US) 9/1/2017 -12.24 1 BLB 3 211715 Simple 199639292 A . CI 1 4 not specified(US);Weaver syndrome(LB);Sotos Syndrome(LB);not specified(B) 6/14/2016 -11.61 2 BLB 3 211944 Simple 202095070 G . CI 1 5 "not specified(LB);Limb-Girdle Muscular Dystrophy, Recessive(US);not specified(LB);Limb-girdle muscular dystrophy-dystroglycanopathy, type C1(LB);Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1(LB);Walker-Warburg congenital muscular dystrophy(LB);not specified(US)" 8/11/2017 -9.24 1.2 BLB 3 211949 Simple 117173425 C . CI 1 4 "not specified(US);not specified(LB);not specified(B);Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2(B);Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2(B);Limb-girdle muscular dystrophy-dystroglycanopathy, type C2(B)" 12/14/2017 -14.94 1.5 BLB 3 211978 Simple 150478342 T . CI 1 5 not specified(LB);not provided(LB);Warburg micro syndrome(US);not specified(LB);not specified(LB) 10/24/2017 -12 1 BLB 3 211989 Simple 59190330 C . CI 1 5 not specified(US);not specified(B);not specified(LB);not specified(LB);Martsolf syndrome(LB);Warburg micro syndrome 2(LB) 2/28/2018 -14.34 1.4 BLB 3 212034 Simple 113242008 C . CI 1 3 "not specified(US);not specified(LB);Lissencephaly 2(B);Epilepsy, familial temporal lobe, 7(B)" 8/31/2017 -8.97 1.333333333 BLB 3 212043 Simple 79610081 A . CI 1 4 "not specified(B);Lissencephaly, Recessive(US);not specified(LB);Lissencephaly 2(B);Epilepsy, familial temporal lobe, 7(B)" 11/6/2017 -15.3 0.75 BLB 3 212046 Simple 114647348 C . CI 1 5 "not specified(B);Lissencephaly, Recessive(US);not specified(US);Lissencephaly 2(B);Epilepsy, familial temporal lobe, 7(B);not specified(B)" 12/28/2017 -18 1 BLB 3 212092 Simple 61739895 T . CI 1 7 "Central core disease(LB);Multiminicore Disease(LB);Malignant hyperthermia susceptibility(LB);Neuromuscular disease, congenital, with uniform type 1 fiber(LB);RYR1-Related Disorders(B);not specified(B);not specified(US)" 1/22/2018 -24.24 1 BLB 3 212100 Simple 370634440 A . CI 1 6 "Myopathy(LP);Neuromuscular disease, congenital, with uniform type 1 fiber(LB);Malignant hyperthermia susceptibility(LB);Multiminicore Disease(LB);Central core disease(LB);RYR1-Related Disorders(US)" 1/5/2018 -9.6 1 BLB 3 212113 Simple 797045938 AG . CI 1 3 not specified(US);not specified(B);not specified(LB) 7/17/2017 -8.64 1.666666667 BLB 3 212114 Simple 147099630 C . CI 1 3 not specified(US);Spastic paraplegia(B);not specified(B) 12/20/2017 -12.24 1.333333333 BLB 3 212130 Simple 200603552 C . CI 1 5 "not specified(US);Benign familial neonatal-infantile seizures(US);Early Infantile Epileptic Encephalopathy, Autosomal Dominant(US);not specified(B);Benign familial neonatal-infantile seizures(LB);Early infantile epileptic encephalopathy 11(LB)" 10/19/2017 -9.27 1.2 BLB 3 212132 Simple 185590667 C . CI 1 5 "not specified(US);Benign familial neonatal-infantile seizures(LB);Early Infantile Epileptic Encephalopathy, Autosomal Dominant(LB);not specified(LB);Benign familial neonatal-infantile seizures(B);Early infantile epileptic encephalopathy 11(B)" 10/16/2017 -15.24 1.2 BLB 3 212146 Simple 148071754 G . CI 1 4 not specified(B);SEPN1-Related Disorders(US);not specified(B);Eichsfeld type congenital muscular dystrophy(B) 1/11/2018 -17.7 1 BLB 3 212220 Simple 7196345 A . CI 1 4 not specified(LB);Fanconi anemia(US);not provided(LB);Fanconi anemia(B) 12/18/2017 -11.7 1.25 BLB 3 212221 Simple 143818824 A . CI 1 4 not specified(LB);Fanconi anemia(B);Fanconi anemia(US);not provided(B) 12/22/2017 -15 1 BLB 3 212237 Simple 141806282 G . CI 1 5 not specified(US);Rhabdoid tumor predisposition syndrome 2(LB);Coffin-Siris syndrome(LB);not specified(LB);Hereditary cancer-predisposing syndrome(LB) 1/10/2018 -11.94 1.2 BLB 3 212242 Simple 372410282 T . CI 1 4 not specified(US);Rhabdoid tumor predisposition syndrome 2(LB);not specified(LB);Hereditary cancer-predisposing syndrome(LB) 10/27/2017 -8.94 1.5 BLB 3 212247 Simple 149874634 T . CI 1 3 not specified(US);Rhabdoid tumor predisposition syndrome 2(B);Hereditary cancer-predisposing syndrome(LB) 12/18/2017 -9.24 1 BLB 3 212254 Simple 144803359 T . CI 1 4 not specified(US);Rhabdoid tumor predisposition syndrome 2(LB);Coffin-Siris syndrome(LB);Hereditary cancer-predisposing syndrome(LB) 12/9/2017 -8.97 1.25 BLB 3 212255 Simple 372620534 A . CI 1 4 not specified(US);Rhabdoid tumor predisposition syndrome 2(B);Coffin-Siris syndrome(LB);Hereditary cancer-predisposing syndrome(LB) 7/8/2017 -11.97 1.25 BLB 3 212398 Simple 377639087 - . CI 1 8 "not specified(LB);not specified(US);Idiopathic fibrosing alveolitis, chronic form(LB);Dyskeratosis congenita, autosomal dominant, 2(LB);Aplastic anemia(LB);Dyskeratosis Congenita, Recessive(LB);Idiopathic fibrosing alveolitis, chronic form(LB);not specified(LB);not specified(US)" 1/24/2018 -18 1 BLB 3 212404 Simple 149888762 T . CI 1 3 "not specified(US);not specified(B);Joubert syndrome 20(B);Meckel syndrome, type 11(B)" 12/29/2017 -12.24 1 BLB 3 212405 Simple 149240122 C . CI 1 4 not specified(US);not specified(LB);Joubert syndrome 14(B);Joubert syndrome 14(US) 12/18/2017 -9.24 1.5 BLB 3 212502 Simple 149903666 T . CI 1 4 "not specified(US);Leukodystrophy, hypomyelinating, 6(LB);Dystonia(LB);Leukodystrophy, hypomyelinating, 6(B)" 12/15/2017 -12.24 1.25 BLB 3 212546 Simple 143538947 T . CI 1 4 "not specified(US);Non-syndromic X-linked intellectual disability(LB);Mental retardation, syndromic 14, X-linked(B);not specified(B)" 1/30/2018 -15.27 0.75 BLB 3 212615 Simple 56035336 T . CI 1 6 "not specified(US);WFS1-Related Spectrum Disorders(US);Nonsyndromic Hearing Loss, Dominant(US);not specified(B);not specified(US);not specified(LB)" 4/20/2017 -8.97 1.5 BLB 3 212617 Simple 79771882 A . CI 1 3 "not specified(US);Epileptic encephalopathy, early infantile, 1(B);Spinocerebellar ataxia, autosomal recessive 12(B);not specified(B)" 12/28/2017 -12.24 1.333333333 BLB 3 212640 Simple 35018134 A . CI 1 4 "not specified(US);Spastic paraplegia(B);Spastic Paraplegia, Recessive(US);not specified(LB)" 12/17/2017 -9.54 1.25 BLB 3 212842 Simple 775992753 A . CI 1 3 not provided(P);Homocystinuria(US);Homocystinuria due to CBS deficiency(P) 12/8/2016 9.9 2 PLP 3 212883 Simple 192232907 A . CI 1 3 not specified(US);Homocystinuria due to CBS deficiency(LB);Cardiovascular phenotype(B) 5/26/2017 -9.3 1 BLB 3 212915 Simple 149369116 T . CI 1 5 "not specified(B);Ehlers-Danlos syndrome, classic type(B);Cardiovascular phenotype(LB);Ehlers-Danlos syndrome, type 7A(US);not specified(B)" 11/28/2017 -18.9 1.8 BLB 3 212929 Simple 576332528 T . CI 1 4 "not specified(B);Ehlers-Danlos syndrome, classic type(LB);Cardiovascular phenotype(LB);Ehlers-Danlos syndrome, type 7A(US)" 3/2/2017 -10.8 1.75 BLB 3 213040 Simple 142313124 T . CI 1 4 "not specified(LB);Ehlers-Danlos syndrome, type 7A(LB);Ehlers-Danlos syndrome, classic type(US);Cardiovascular phenotype(LB)" 12/28/2017 -9.3 0.25 BLB 3 213084 Simple 148590409 C . CI 1 4 "not specified(B);Cardiovascular phenotype(LB);Ehlers-Danlos syndrome, type 7A(US);Ehlers-Danlos syndrome, classic type(B)" 1/2/2018 -13.8 1.5 BLB 3 213090 Simple 549894501 C . CI 1 5 "not specified(US);Ehlers-Danlos syndrome, type 7A(US);Ehlers-Danlos syndrome, classic type(LB);Cardiovascular phenotype(LB);not specified(B)" 7/14/2017 -11.4 1.2 BLB 3 213106 Simple 150260969 C . CI 1 4 "not specified(US);Cardiovascular phenotype(B);Ehlers-Danlos syndrome, type 7A(LB);Ehlers-Danlos syndrome, classic type(LB)" 12/9/2017 -12.3 0.75 BLB 3 213156 Simple 146789395 A . CI 1 4 "not specified(US);Ehlers-Danlos syndrome, type 7A(LB);Ehlers-Danlos syndrome, classic type(B);Cardiovascular phenotype(US)" 1/22/2018 -9.6 0.5 BLB 3 213212 Simple 863223538 T . CI 1 4 not specified(US);Osler hemorrhagic telangiectasia syndrome(LP);Osler hemorrhagic telangiectasia syndrome(LP);not specified(P) 7/27/2017 11.7 0.5 PLP 3 213224 Simple 371502563 G . CI 1 4 not specified(B);Congenital contractural arachnodactyly(US);Congenital contractural arachnodactyly(LB);Cardiovascular phenotype(LB) 11/18/2016 -10.8 1.75 BLB 3 213230 Simple 139052603 C . CI 1 4 not specified(LB);Cardiovascular phenotype(B);Congenital contractural arachnodactyly(US);Congenital contractural arachnodactyly(LB) 8/17/2017 -11.1 1 BLB 3 213259 Simple 146849637 T . CI 1 7 Cardiovascular phenotype(LB);Congenital contractural arachnodactyly(LB);not specified(LB);not specified(B);not provided(LB);not specified(LB);Congenital contractural arachnodactyly(LB) 12/8/2017 -23.7 0.571428571 BLB 3 213283 Simple 548605398 T . CI 1 4 not specified(B);Congenital contractural arachnodactyly(B);Cardiovascular phenotype(US);Congenital contractural arachnodactyly(LB) 1/23/2018 -14.64 1.5 BLB 3 213286 Simple 145259927 T . CI 1 6 not specified(LB);Cardiovascular phenotype(LB);not specified(LB);Congenital contractural arachnodactyly(LB);Congenital contractural arachnodactyly(LB);not provided(LB) 2/5/2018 -17.7 0.5 BLB 3 213328 Simple 199665922 C . CI 1 4 not specified(LB);Cardiovascular phenotype(US);Congenital contractural arachnodactyly(LB);Congenital contractural arachnodactyly(B) 1/5/2018 -12.3 0.5 BLB 3 213371 Simple 371715068 G . CI 1 4 not specified(US);Cardiovascular phenotype(B);Congenital contractural arachnodactyly(LB);Congenital contractural arachnodactyly(B) 4/14/2017 -14.58 2.25 BLB 3 213460 Simple 200048692 A . CI 1 4 "not specified(B);not specified(US);Periventricular nodular heterotopia 1(B);Melnick-Needles syndrome(B);Oto-palato-digital syndrome, type II(B);Frontometaphyseal dysplasia(B);Cardiovascular phenotype(LB)" 8/25/2017 -14.07 1.5 BLB 3 213500 Simple 201093148 T . CI 1 4 "not specified(US);Periventricular nodular heterotopia 1(LB);Melnick-Needles syndrome(LB);Oto-palato-digital syndrome, type II(LB);Frontometaphyseal dysplasia(LB);not provided(LB);not specified(B)" 6/20/2017 -12.24 1.25 BLB 3 213692 Simple 141862996 T . CI 1 5 not specified(LB);Shprintzen-Goldberg syndrome(LB);not provided(LB);Shprintzen-Goldberg syndrome(US);Cardiovascular phenotype(US) 3/1/2018 -9.6 0.4 BLB 3 213717 Simple 142106322 T . CI 1 4 not specified(B);Cardiovascular phenotype(LB);Arterial tortuosity syndrome(US);Arterial tortuosity syndrome(LB) 5/12/2017 -10.5 2 BLB 3 213835 Simple 10482721 A . CI 1 5 not specified(B);Holt-Oram syndrome(B);Loeys-Dietz syndrome(LB);not provided(B);Cardiovascular phenotype(LB) 1/5/2018 -24 0.6 BLB 3 213840 Simple 149533093 T . CI 1 5 not specified(LB);Loeys-Dietz syndrome(LB);Loeys-Dietz syndrome 4(US);Holt-Oram syndrome(LB);Cardiovascular phenotype(US) 1/5/2018 -9.57 0.8 BLB 3 213934 Simple 863223852 T . CI 1 4 not specified(US);Thoracic aortic aneurysm and aortic dissection(P);Loeys-Dietz syndrome 2(P);Thoracic aortic aneurysm and aortic dissection(P) 11/20/2017 16.5 1.25 P 3 213939 Simple 768385200 T . CI 1 7 not specified(US);Thoracic aortic aneurysm and aortic dissection(US);Loeys-Dietz syndrome(LB);Marfan syndrome(LB);Thoracic aortic aneurysm and aortic dissection(LB);not specified(US);Thoracic aortic aneurysm and aortic dissection(US) 10/30/2017 -10.17 1 BLB 3 214144 Simple 181327211 T . CI 1 4 not specified(B);not specified(B);3-Methylglutaconic aciduria(US);not provided(LB) 9/1/2016 -13.5 1.75 BLB 3 214177 Simple 116046810 G . CI 1 5 not specified(US);Ataxia Neuropathy Spectrum Disorders(LB);Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions(LB);Autosomal recessive cerebellar ataxia(LB);Mitochondrial DNA depletion syndrome(LB) 6/14/2016 -12.3 1 BLB 3 214283 Simple 145252858 G . CI 1 3 not specified(B);Mitochondrial DNA depletion syndrome(US);not specified(B) 1/27/2017 -11.1 1.666666667 BLB 3 214547 Simple 61736946 C . CI 1 3 not specified(US);not specified(B);not specified(B) 3/8/2017 -11.1 1.666666667 BLB 3 214636 Simple 138724074 T . CI 1 4 "not specified(B);Charcot-Marie-Tooth disease, type 2(B);Hereditary motor and sensory neuropathy(US);Charcot-Marie-Tooth, Type 2(US)" 12/17/2017 -11.4 1.25 BLB 3 215324 Simple 201685922 - . CI 1 6 "not specified(B);not specified(US);not provided(B);Mitochondrial DNA depletion syndrome 1 (MNGIE type)(LB);Fatal Infantile Cardioencephalomyopathy(LB);Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency(LB)" 6/14/2016 -18.87 1.833333333 BLB 3 215361 Simple 71539657 A . CI 1 4 not specified(US);not specified(US);Monogenic diabetes(LB);not specified(B) 5/2/2017 -9.57 1.25 BLB 3 215375 Simple 200135768 T . CI 1 4 not specified(LB);not specified(B);not specified(LB);Monogenic diabetes(US) 2/16/2018 -11.97 1 BLB 3 215417 Simple 149447502 T . CI 1 4 not specified(B);Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis(US);Mitochondrial myopathy and sideroblastic anemia(US);not provided(LB) 9/18/2017 -9 1 BLB 3 215435 Simple 767648965 C . CI 1 3 "Hereditary breast and ovarian cancer syndrome(B);Breast-ovarian cancer, familial 2(US);Hereditary cancer-predisposing syndrome(LB)" 11/26/2017 -9.27 1 BLB 3 215441 Simple 144926928 A . CI 1 4 Long QT syndrome(B);Cardiovascular phenotype(LB);Long QT syndrome(US);not specified(US) 1/2/2018 -9.3 1 BLB 3 215481 Simple 139468837 A . CI 1 4 Nephronophthisis(B);not specified(B);Renal dysplasia and retinal aplasia(US);not specified(LB) 6/30/2016 -14.1 1.5 BLB 3 215482 Simple 61737514 A . CI 1 4 Jeune thoracic dystrophy(B);Jeune thoracic dystrophy(US);Short Rib Polydactyly Syndrome(US);not specified(B) 3/29/2017 -12.6 1 BLB 3 215483 Simple 180787556 C . CI 1 4 Jeune thoracic dystrophy(B);not specified(B);Short Rib Polydactyly Syndrome(US);Jeune thoracic dystrophy(US) 6/14/2016 -11.4 1.5 BLB 3 215488 Simple 150878494 A . CI 1 4 Long QT syndrome(B);Cardiovascular phenotype(LB);Long QT syndrome(US);not specified(LB) 1/30/2018 -12 0.75 BLB 3 215497 Simple 187509039 T . CI 1 3 "Charcot-Marie-Tooth disease, type 2(B);Charcot-Marie-Tooth, Type 2(LB);not specified(B)" 12/17/2017 -15 0.666666667 BLB 3 215513 Simple 139770404 T . CI 1 4 Long QT syndrome(B);Cardiovascular phenotype(LB);Long QT syndrome(US);Romano-Ward syndrome(US) 11/17/2017 -9.3 1 BLB 3 215516 Simple 147066476 T . CI 1 5 "Charcot-Marie-Tooth disease, type 2(B);not specified(B);Neuroblastoma(US);Charcot-Marie-Tooth, Type 2(US);Pheochromocytoma(US)" 11/28/2017 -12.3 1 BLB 3 215520 Simple 201771769 G . CI 1 3 "Spastic paraplegia(B);Spastic Paraplegia, Recessive(US);not specified(B)" 12/17/2017 -12.3 0.666666667 BLB 3 215529 Simple 58665245 AA . CI 1 3 Jeune thoracic dystrophy(B);Jeune thoracic dystrophy(US);not specified(B) 10/26/2017 -12.3 0.666666667 BLB 3 215655 Simple 545552712 C . CI 1 4 Hereditary nonpolyposis colon cancer(LB);Lynch syndrome(US);Hereditary cancer-predisposing syndrome(LB);Hereditary cancer-predisposing syndrome(LB) 12/18/2017 -8.7 1.25 BLB 3 215822 Simple 369408590 G . CI 1 4 "Microcephaly, normal intelligence and immunodeficiency(LB);Microcephaly, normal intelligence and immunodeficiency(US);not specified(B);Hereditary cancer-predisposing syndrome(LB)" 12/18/2017 -11.4 1.25 BLB 3 215831 Simple 201223411 A . CI 1 4 Hereditary diffuse gastric cancer(LB);Hereditary diffuse gastric cancer(US);not specified(LB);Hereditary cancer-predisposing syndrome(LB) 12/7/2016 -8.67 1.75 BLB 3 215877 Simple 757442952 C . CI 1 6 "Hereditary breast and ovarian cancer syndrome(LB);Breast-ovarian cancer, familial 1(US);not specified(LB);not specified(LB);Hereditary cancer-predisposing syndrome(LB);not provided(US)" 10/27/2017 -12.6 0.5 BLB 3 215896 Simple 146986015 T . CI 1 4 "Mast syndrome(LB);Spastic Paraplegia, Recessive(US);not specified(LB);not specified(LB)" 12/27/2017 -9.3 0.75 BLB 3 215914 Simple 145798106 A . CI 1 7 "Renal adysplasia(US);Hirschsprung Disease, Dominant(US);Multiple endocrine neoplasia(US);Pheochromocytoma(US);Hereditary cancer-predisposing syndrome(LB);not specified(LB);Multiple endocrine neoplasia, type 2(LB)" 9/25/2017 -9.6 1.142857143 BLB 3 215921 Simple 56217500 C . CI 1 10 "Charcot-Marie-Tooth disease type 2C(LB);Charcot-Marie-Tooth, Type 2(LB);Scapuloperoneal spinal muscular atrophy(LB);Spondylometaphyseal dysplasia(LB);Brachyolmia(LB);Distal spinal muscular atrophy, congenital nonprogressive(LB);Metatrophic dysplasia(LB);not specified(LB);not specified(US);not specified(B)" 10/27/2017 -30.3 0.8 B 3 215924 Simple 375970910 T . CI 1 5 "Charcot-Marie-Tooth disease, type IV(LB);Charcot-Marie-Tooth, Type 4(US);Mononeuropathy of the Median Nerve(US);not specified(LB);not specified(LB)" 12/26/2017 -9.6 0.6 BLB 3 215934 Simple 769414858 - . CI 1 6 Familial cancer of breast(B);Familial cancer of breast(US);not specified(B);not specified(LB);Hereditary cancer-predisposing syndrome(LB);not provided(US) 1/5/2018 -17.34 1.5 BLB 3 215968 Simple 139357821 T . CI 1 4 "Charcot-Marie-Tooth disease, type IV(LB);not specified(LB);Charcot-Marie-Tooth, Type 4(US);not specified(LB)" 12/22/2017 -9 0.75 BLB 3 215970 Simple 115660279 C . CI 1 6 Meckel-Gruber syndrome(US);Joubert syndrome(US);Nephronophthisis(US);not specified(LB);not specified(LB);Joubert syndrome(B);Meckel-Gruber syndrome(B) 5/7/2017 -12.9 1 BLB 3 216305 Simple 63751127 A . CI 1 4 Hereditary nonpolyposis colon cancer(US);Hereditary nonpolyposis colorectal cancer type 5(LB);Hereditary cancer-predisposing syndrome(LB);not specified(LB) 12/11/2017 -9 0.75 BLB 3 216549 Simple 141840552 A . CI 1 3 "Charcot-Marie-Tooth disease, type 2(LB);Charcot-Marie-Tooth, Type 2(LB);not specified(LB)" 11/28/2017 -9 0.333333333 BLB 3 216688 Simple 146398746 A . CI 1 4 Troyer syndrome(LB);Troyer syndrome(US);not specified(LB);not specified(LB) 11/7/2017 -9.3 0.75 BLB 3 216771 Simple 200573434 T . CI 1 3 "Spastic paraplegia 11, autosomal recessive(B);Spastic Paraplegia, Recessive(US);not specified(LB)" 1/4/2018 -9.3 0.666666667 BLB 3 216834 Simple 147587689 T . CI 1 4 "Charcot-Marie-Tooth disease, type IV(LB);not specified(LB);not specified(US);not specified(LB)" 12/27/2017 -9.27 0.75 BLB 3 216972 Simple 201680145 A . CI 1 4 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy(P);not specified(US);not specified(US);Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy(P) 12/3/2017 9.6 1.25 PLP 3 217127 Simple 137985549 A . CI 1 5 "Primary hyperparathyroidism(US);Multiple endocrine neoplasia, type 4(LB);Multiple endocrine neoplasia(LB);not specified(LB);Hereditary cancer-predisposing syndrome(US)" 1/12/2018 -9.54 1.2 BLB 3 217607 Simple 201502401 T . CI 1 6 Joubert syndrome 9(P);not provided(P);Meckel-Gruber syndrome(US);Joubert syndrome(P);Joubert syndrome(P);Meckel-Gruber syndrome(P);Joubert syndrome(P) 11/14/2016 27.9 1.5 P 3 218258 Simple 118169528 T . CI 1 5 Propionyl-CoA carboxylase deficiency(P);Propionyl-CoA carboxylase deficiency(US);Propionyl-CoA carboxylase deficiency(LB);Propionyl-CoA carboxylase deficiency(B);not specified(B) 5/12/2017 -12.27 2.2 BLB 3 218329 Simple 52820871 G . CI 1 4 Obesity(LB);not provided(LB);Monogenic diabetes(US);not specified(LB) 5/12/2017 -9.27 1.25 BLB 3 218424 Simple 72667032 C . CI 1 5 not specified(B);not provided(LB);not specified(B);Osteogenesis imperfecta(US);Osteogenesis imperfecta type I(B) 12/24/2017 -19.77 1.6 BLB 3 218442 Simple 12714192 T . CI 1 7 "Familial hypercholesterolemia(LB);Familial hypobetalipoproteinemia(LB);Familial hypercholesterolemia(LB);Familial hypercholesterolemia(US);Hypercholesterolemia, autosomal dominant, type B(B);Hypobetalipoproteinemia, familial, 1(B);Familial hypercholesterolemia(B);not specified(B)" 1/26/2018 -26.67 1.142857143 BLB 3 218443 Simple 12713844 G . CI 1 9 "Familial hypercholesterolemia(B);Familial hypercholesterolemia(LB);not specified(B);Familial hypercholesterolemia(B);Familial hypercholesterolemia(US);Hypercholesterolemia, autosomal dominant, type B(B);Hypobetalipoproteinemia, familial, 1(B);Familial hypercholesterolemia(LB);not specified(B);Familial hypercholesterolemia(B)" 1/23/2018 -39.84 1.333333333 B 3 218444 Simple 61736761 T . CI 1 7 "Familial hypercholesterolemia(LB);Familial hypobetalipoproteinemia(LB);Familial hypercholesterolemia(LB);Hypercholesterolemia, autosomal dominant, type B(B);Hypobetalipoproteinemia, familial, 1(B);Familial hypercholesterolemia(US);Familial hypercholesterolemia(B);not specified(B)" 1/26/2018 -26.67 1 BLB 3 218450 Simple 2163204 G . CI 1 5 "Familial hypercholesterolemia(B);Familial hypobetalipoproteinemia(LB);Familial hypercholesterolemia(LB);Hypercholesterolemia, autosomal dominant, type B(B);Hypobetalipoproteinemia, familial, 1(B);Familial hypercholesterolemia(B)" 1/15/2018 -22.8 1 BLB 3 218451 Simple 72653095 A . CI 1 6 "Familial hypercholesterolemia(LB);not specified(B);Familial hypercholesterolemia(LB);not specified(LB);Familial hypercholesterolemia(US);Hypercholesterolemia, autosomal dominant, type B(B);Hypobetalipoproteinemia, familial, 1(B)" 12/20/2017 -20.64 1 BLB 3 218452 Simple 12720854 C . CI 1 8 "Familial hypercholesterolemia(US);Familial hypercholesterolemia(LB);not specified(B);Familial hypercholesterolemia(US);Familial hypercholesterolemia(LB);not specified(LB);Familial hypercholesterolemia(US);Hypercholesterolemia, autosomal dominant, type B(B);Hypobetalipoproteinemia, familial, 1(B)" 2/12/2018 -21.21 1.125 BLB 3 218461 Simple 60794673 - . CI 1 7 Lynch syndrome(B);Lynch syndrome(B);Hereditary nonpolyposis colorectal cancer type 4(US);not specified(B);Hereditary cancer-predisposing syndrome(B);Hereditary cancer-predisposing syndrome(B);Hereditary nonpolyposis colorectal cancer type 4(B) 7/6/2017 -33.87 1.428571429 B 3 218467 Simple 201679831 A . CI 1 7 "Neuromuscular disease, congenital, with uniform type 1 fiber(LB);Malignant hyperthermia susceptibility(LB);Multiminicore Disease(LB);Central core disease(LB);not specified(LB);RYR1-Related Disorders(LB);Malignant hypothermia(US)" 1/8/2018 -18.24 1 BLB 3 218542 Simple 140666848 C . CI 1 3 "not specified(B);not specified(LB);Common variable immunodeficiency 8, with autoimmunity(B)" 12/29/2017 -14.1 1.333333333 BLB 3 218583 Simple 72655967 A . CI 1 4 not specified(US);not specified(B);Ciliary dyskinesia(B);not provided(LB) 9/29/2017 -12.87 2 BLB 3 218630 Simple 144051775 T . CI 1 4 not specified(US);not specified(B);not specified(LB);Bethlem myopathy 1(LB) 10/24/2017 -11.67 1.25 BLB 3 218680 Simple 202220778 G . CI 1 9 "not specified(LB);Colorectal cancer(LB);Colorectal cancer, susceptibility to, 12(B);Colorectal cancer, susceptibility to, 12(LB);not provided(US);not specified(LB);not specified(LB);Hereditary cancer-predisposing syndrome(B);not provided(LB)" 1/9/2018 -29.1 1 B 3 218707 Simple 142967124 A . CI 1 4 not specified(LB);Spastic paraplegia(B);not specified(LB);not specified(US) 12/20/2017 -12 1 BLB 3 218713 Simple 193922695 GGAGGA . CI 1 9 Cardiomyopathy(US);not specified(B);Alstrom syndrome(B);not specified(LB);Alstrom syndrome(US);Alstrom syndrome(US);Alstrom syndrome(US);Alstrom syndrome(US);Alstrom syndrome(US) 8/19/2016 -15.45 1.777777778 BLB 3 218723 Simple 138607412 C . CI 1 4 not specified(LB);Methylmalonic acidemia(US);Disorders of Intracellular Cobalamin Metabolism(US);not specified(B) 2/28/2017 -9 1.5 BLB 3 218824 Simple 4019784 T . CI 1 3 not specified(LB);Fanconi anemia(US);not specified(B) 8/8/2016 -9 1.333333333 BLB 3 218873 Simple 151094543 G . CI 1 4 "not specified(B);Hyper-IgE syndrome(US);not specified(LB);Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive(B)" 10/22/2017 -14.7 1 BLB 3 218940 Simple 2234675 T . CI 1 6 Congenital diaphragmatic hernia(US);not specified(B);Waardenburg syndrome(LB);Craniofacial deafness hand syndrome(LB);Waardenburg syndrome type 1(LB);not specified(B) 9/8/2017 -20.04 1.5 BLB 3 219427 Simple 34263845 C . CI 1 4 "Dilated cardiomyopathy 1AA(B);Primary familial hypertrophic cardiomyopathy(B);Dilated Cardiomyopathy, Dominant(US);Hypertrophic cardiomyopathy(US);not specified(LB)" 9/13/2017 -9.6 0.5 BLB 3 219448 Simple 864622094 C . CI 1 3 Spastic paraplegia 7(US);not provided(LP);not provided(P) 7/31/2017 8.73 1 PLP 3 219609 Simple 79708848 C . CI 1 5 "Spastic paraplegia 11, autosomal recessive(B);Spastic Paraplegia, Recessive(US);not specified(B);not specified(B);Spastic paraplegia 11, autosomal recessive(B)" 8/8/2017 -23.1 1 BLB 3 219615 Simple 768572372 A . CI 1 3 Long QT syndrome(B);Long QT syndrome(US);Cardiovascular phenotype(LB) 11/14/2017 -9.3 0.333333333 BLB 3 219711 Simple 150737854 T . CI 1 3 Ciliary dyskinesia(B);Ciliary dyskinesia(US);not specified(LB) 11/2/2017 -8.7 1.333333333 BLB 3 219968 Simple 140985600 A . CI 1 5 "Charcot-Marie-Tooth disease, type IV(LB);Charcot-Marie-Tooth, Type 4(US);Mononeuropathy of the Median Nerve(US);not specified(LB);not specified(B)" 12/5/2017 -12.6 0.6 BLB 3 220050 Simple 745522483 AAAACAAAAC . CI 1 9 not specified(US);Meckel-Gruber syndrome(US);Bardet-Biedl syndrome(US);Joubert syndrome(US);Renal dysplasia and retinal aplasia(US);Leber congenital amaurosis(US);not provided(LB);not specified(US);Joubert syndrome(B);Meckel-Gruber syndrome(B);Nephronophthisis(B) 6/13/2017 -11.04 1.111111111 BLB 3 220067 Simple 145183886 T . CI 1 7 Familial cancer of breast(LB);Hereditary cancer-predisposing syndrome(LB);Colorectal cancer(US);Neoplasm of the breast(US);Familial cancer of breast(LB);not specified(LB);Hereditary cancer-predisposing syndrome(LB) 1/4/2018 -15 1 BLB 3 220186 Simple 377279035 G . CI 1 5 Hereditary nonpolyposis colon cancer(LB);not specified(LB);not specified(US);Hereditary cancer-predisposing syndrome(LB);Hereditary cancer-predisposing syndrome(LB) 9/20/2017 -9.9 2.4 BLB 3 220416 Simple 557364463 . . CI 1 2 not specified(B);not specified(B) 2/16/2018 -12 0.5 BLB 3 220501 Simple 147494754 G . CI 1 5 Long QT syndrome(B);Cardiovascular phenotype(LB);Long QT syndrome(US);Romano-Ward syndrome(US);Long QT syndrome 11(LB) 12/12/2017 -12.6 0.6 BLB 3 220611 Simple 749306433 G . CI 1 5 Hereditary diffuse gastric cancer(LB);not specified(LB);not specified(LB);Hereditary cancer-predisposing syndrome(US);Hereditary cancer-predisposing syndrome(LB) 2/19/2018 -12.3 0.4 BLB 3 220622 Simple 147423696 A . CI 1 3 Long QT syndrome(B);Cardiovascular phenotype(LB);Long QT syndrome(US) 12/29/2017 -9 1 BLB 3 220718 Simple 62447794 T . CI 1 3 Ciliary dyskinesia(B);Ciliary dyskinesia(US);not specified(LB) 12/29/2017 -9.3 0.333333333 BLB 3 220739 Simple 372169366 A . CI 1 4 "Colorectal cancer, susceptibility to, 12(B);not specified(LB);Hereditary cancer-predisposing syndrome(LB);not specified(US)" 2/8/2018 -12.3 0.5 BLB 3 220759 Simple 139801716 C . CI 1 3 Fanconi anemia(B);Fanconi anemia(US);not specified(LB) 10/18/2017 -9.3 0.666666667 BLB 3 220799 Simple 150924100 A . CI 1 4 "Aortic aneurysm, familial thoracic 4(LB);Cardiovascular phenotype(LB);Thoracic aortic aneurysm and aortic dissection(US);Aortic aneurysm, familial thoracic 4(LB)" 12/19/2017 -8.7 1 BLB 3 220800 Simple 149482336 T . CI 1 4 "Aortic aneurysm, familial thoracic 7(LB);Thoracic aortic aneurysm and aortic dissection(US);not specified(LB);not specified(LB)" 9/10/2017 -9.3 0.75 BLB 3 220876 Simple 587780560 TT . CI 1 3 Hereditary breast and ovarian cancer syndrome(B);not specified(B);Hereditary cancer-predisposing syndrome(LB) 4/18/2017 -12.6 2.666666667 BLB 3 220930 Simple 147319762 C . CI 1 4 "Charcot-Marie-Tooth disease, type 2(LB);Charcot-Marie-Tooth, Type 2(LB);not provided(LB);not specified(LB)" 1/4/2018 -12 0.5 BLB 3 220958 Simple 35938843 T . CI 1 4 Long QT syndrome(B);Cardiovascular phenotype(B);Romano-Ward syndrome(US);Long QT syndrome(US) 7/10/2017 -12 1 BLB 3 220970 Simple 199993010 C . CI 1 4 Colorectal cancer 10(LB);not specified(US);not specified(LB);Hereditary cancer-predisposing syndrome(LB) 1/5/2018 -9 1 BLB 3 221002 Simple 115195341 A . CI 1 3 "Fanconi anemia, complementation group E(B);Fanconi anemia(US);not specified(LB)" 12/1/2017 -9.3 0.666666667 BLB 3 221006 Simple 201207627 C . CI 1 3 Ciliary dyskinesia(B);Ciliary dyskinesia(US);not specified(B) 12/8/2017 -12.3 0.666666667 BLB 3 221032 Simple 764244718 A . CI 1 4 Hereditary cutaneous melanoma(LB);Melanoma-pancreatic cancer syndrome(US);not specified(LB);Hereditary cancer-predisposing syndrome(B) 11/29/2017 -12 1 BLB 3 221038 Simple 145473716 A . CI 1 7 Colorectal cancer 10(B);Hereditary cancer-predisposing syndrome(LB);not specified(LB);Colorectal cancer 10(US);not specified(LB);not specified(LB);Hereditary cancer-predisposing syndrome(LB) 1/12/2018 -21 0.857142857 BLB 3 221085 Simple 61732929 T . CI 1 7 "Colorectal cancer, susceptibility to, 12(B);Colorectal cancer, susceptibility to, 12(LB);not provided(LB);not specified(LB);not specified(US);not specified(LB);Hereditary cancer-predisposing syndrome(LB)" 1/12/2018 -21 0.857142857 BLB 3 221139 Simple 772468675 G . CI 1 4 Colorectal cancer 10(B);not specified(LB);not specified(US);Hereditary cancer-predisposing syndrome(LB) 1/24/2018 -12 0.75 BLB 3 221193 Simple 79955190 T . CI 1 3 Ciliary dyskinesia(B);Ciliary dyskinesia(US);not specified(B) 11/13/2017 -9.9 2 BLB 3 221194 Simple 148429731 G . CI 1 4 Ciliary dyskinesia(B);not specified(B);Ciliary dyskinesia(US);not provided(LB) 12/13/2017 -12.9 1.75 BLB 3 224343 Simple 772465423 - . CI 1 2 not specified(B);Townes-Brocks syndrome 1(LB) 8/30/2016 -9 1 BLB 3 224380 Simple 144157950 T . CI 1 9 "Malignant hyperthermia, susceptibility to, 1(LB);Malignant hypothermia(US);not specified(LB);Neuromuscular disease, congenital, with uniform type 1 fiber(LB);Multiminicore Disease(LB);Central core disease(LB);Malignant hyperthermia susceptibility(LB);not specified(LB);RYR1-Related Disorders(B)" 12/26/2017 -26.07 1.333333333 BLB 3 224382 Simple 192863857 T . CI 1 6 "Malignant hyperthermia susceptibility(LB);Multiminicore Disease(LB);Neuromuscular disease, congenital, with uniform type 1 fiber(LB);Central core disease(LB);not specified(US);Malignant hyperthermia, susceptibility to, 1(US)" 10/23/2017 -12.51 1.333333333 BLB 3 224402 Simple 151119428 A . CI 1 6 "Malignant hyperthermia, susceptibility to, 1(US);Central core disease(LB);Multiminicore Disease(LB);Neuromuscular disease, congenital, with uniform type 1 fiber(LB);Malignant hyperthermia susceptibility(LB);not specified(US)" 6/5/2017 -12.51 1.333333333 BLB 3 224619 Simple 116405216 A . CI 1 7 Familial hypercholesterolemia(US);Familial hypercholesterolemia(LB);Familial hypercholesterolemia(LB);Familial hypercholesterolemia(B);Familial hypercholesterolemia(LP);Familial hypercholesterolemia(US);Familial hypercholesterolemia(B) 1/12/2018 -14.97 1.142857143 BLB 3 224620 Simple 13306498 T . CI 1 5 Familial hypercholesterolemia(LB);Familial hypercholesterolemia(B);Familial hypercholesterolemia(B);Familial hypercholesterolemia(LP);Familial hypercholesterolemia(B) 1/2/2018 -17.4 0.8 BLB 3 224705 Simple 878854398 - . CI 1 4 not specified(US);not provided(LP);Bethlem myopathy 1(P);Ullrich congenital muscular dystrophy 1(P) 12/23/2015 13.23 2 PLP 3 225029 Simple 144860976 G . CI 1 3 Inborn genetic diseases(US);not provided(LB);Vici syndrome(B) 1/5/2018 -9.21 1.666666667 BLB 3 225097 Simple 769446356 T . CI 1 5 Familial hypercholesterolemia(US);Familial hypercholesterolemia(LP);Inborn genetic diseases(US);not provided(LP);Familial hypercholesterolemia(P) 10/23/2017 11.19 1.4 PLP 3 225282 Simple 116347156 T . CI 1 5 Malignant hyperthermia susceptibility(US);Malignant hyperthermia susceptibility(LB);Hypokalemic periodic paralysis(LB);not specified(US);Hypokalemic periodic paralysis 1(B);Malignant hyperthermia susceptibility type 5(B) 9/6/2017 -12.57 1 BLB 3 225318 Simple 141430703 A . CI 1 8 "Deafness, autosomal recessive 53(US);Deafness, autosomal dominant 13(US);not specified(B);not specified(B);Nonsyndromic Hearing Loss, Dominant(LB);Weissenbacher-Zweymuller syndrome(LB);Stickler Syndrome, Dominant(LB);Otospondylomegaepiphyseal dysplasia(LB);Fibrochondrogenesis(LB)" 8/3/2016 -26.07 1.375 BLB 3 225327 Simple 114052315 A . CI 1 4 "Leber congenital amaurosis 8(US);Leber congenital amaurosis(LB);Retinitis Pigmentosa, Recessive(LB);Pigmented paravenous chorioretinal atrophy(LB)" 6/14/2016 -9.27 1.25 BLB 3 225346 Simple 2070591 T . CI 1 5 "Hirschsprung disease 2(US);not specified(B);Hirschsprung Disease, Recessive(LB);Waardenburg syndrome(LB);not specified(LB)" 1/3/2018 -14.07 1.4 BLB 3 225368 Simple 138577661 G . CI 1 4 Galactosylceramide beta-galactosidase deficiency(LP);Galactosylceramide beta-galactosidase deficiency(US);Galactosylceramide beta-galactosidase deficiency(LP);Galactosylceramide beta-galactosidase deficiency(P) 12/12/2016 11.4 1.25 PLP 3 225378 Simple 144090917 T . CI 1 3 Non-ketotic hyperglycinemia(US);Non-ketotic hyperglycinemia(LB);Non-ketotic hyperglycinemia(B) 1/4/2018 -9.27 1 BLB 3 225404 Simple 202207965 AA . CI 1 4 "Donnai Barrow syndrome(US);Disorders of Intracellular Cobalamin Metabolism(LB);METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE(B);not specified(B)" 12/8/2017 -15.27 0.75 BLB 3 225411 Simple 33932559 C . CI 1 3 Cutaneous malignant melanoma 5(US);Malignant Melanoma Susceptibility(LB);Cutaneous malignant melanoma 5(B) 10/14/2017 -9.27 1 BLB 3 225437 Simple 147859619 C . CI 1 4 Familial X-linked hypophosphatemic vitamin D refractory rickets(US);Familial X-linked hypophosphatemic vitamin D refractory rickets(LB);not specified(LB);not specified(B) 2/21/2017 -12.27 1.25 BLB 3 226082 Simple 2229249 G . CI 1 4 Medium-chain acyl-coenzyme A dehydrogenase deficiency(B);Medium-chain acyl-coenzyme A dehydrogenase deficiency(US);not specified(B);Medium-chain acyl-coenzyme A dehydrogenase deficiency(B) 5/12/2017 -16.5 1.75 BLB 3 226304 Simple 2228671 G . CI 1 7 Familial hypercholesterolemia(LP);Familial hypercholesterolemia(LB);Familial hypercholesterolemia(LP);Familial hypercholesterolemia(P);Familial hypercholesterolemia(LP);Familial hypercholesterolemia(LP);Familial hypercholesterolemias(P) 3/30/2017 20.1 1.428571429 P 3 226332 Simple 577934998 C . CI 1 3 Familial hypercholesterolemia(LP);Familial hypercholesterolemia(US);Familial hypercholesterolemia(P) 3/30/2017 8.4 1.333333333 PLP 3 226365 Simple 397509365 C . CI 1 6 Familial hypercholesterolemia(US);Familial hypercholesterolemia(P);Familial hypercholesterolemia(LP);Familial hypercholesterolemia(P);Familial hypercholesterolemia(P);Familial hypercholesterolemia(P) 12/16/2016 24.33 1.833333333 P 3 226368 Simple 17248882 A . CI 1 13 Familial hypercholesterolemia(LB);Familial hypercholesterolemia(US);Familial hypercholesterolemia(LB);Familial hypercholesterolemia(B);not specified(LB);Familial hypercholesterolemia(B);Familial hypercholesterolemia(US);Familial hypercholesterolemia(LB);Familial hypercholesterolemia(LB);Familial hypercholesterolemia(LB);Familial hypercholesterolemia(LB);not specified(B);Familial hypercholesterolemia(LB) 12/27/2017 -41.07 1.230769231 B 3 226380 Simple 754536745 A . CI 1 4 Familial hypercholesterolemia(LP);Familial hypercholesterolemia(LP);Familial hypercholesterolemia(P);Familial hypercholesterolemia(US) 3/30/2017 11.13 1.75 PLP 3 226393 Simple 750518671 A . CI 1 12 Familial hypercholesterolemia(LP);Familial hypercholesterolemia(US);Familial hypercholesterolemia(LP);Familial hypercholesterolemia(LP);Familial hypercholesterolemia(P);Familial hypercholesterolemia(LP);not provided(P);Familial hypercholesterolemia(US);Familial hypercholesterolemia(P);Familial hypercholesterolemias(P);Familial hypercholesterolemia(P);Familial hypercholesterolemia(US) 9/27/2017 40.59 1.166666667 P 3 226489 Simple 61739354 T . CI 1 3 not specified(B);Ciliary dyskinesia(B);Ciliary dyskinesia(US) 1/3/2018 -9.9 2 BLB 3 226559 Simple 121913002 T . CI 1 4 "not specified(B);Cardiovascular phenotype(LB);not specified(US);Myofibrillar myopathy 1(B);Muscular dystrophy, limb-girdle, type 2r(B)" 1/19/2018 -14.67 1.25 BLB 3 226574 Simple 149158199 A . CI 1 3 not specified(B);Ciliary dyskinesia(US);Ciliary dyskinesia(B) 8/12/2017 -11.7 1 BLB 3 226577 Simple 116185352 T . CI 1 4 not specified(B);not specified(B);Ciliary dyskinesia(US);Ciliary dyskinesia(B) 12/7/2017 -15.3 2 BLB 3 226579 Simple 182389910 A . CI 1 4 not specified(B);Ciliary dyskinesia(B);Ciliary dyskinesia(US);not provided(LB) 11/6/2017 -14.7 1 BLB 3 226583 Simple 72655983 C . CI 1 4 not specified(B);Ciliary dyskinesia(B);not specified(B);Ciliary dyskinesia(US) 1/8/2018 -15.3 2 BLB 3 226586 Simple 137855415 G . CI 1 3 not specified(B);Ciliary dyskinesia(US);Ciliary dyskinesia(B) 11/29/2017 -11.7 1 BLB 3 226590 Simple 72657379 A . CI 1 3 not specified(B);Ciliary dyskinesia(B);Ciliary dyskinesia(US) 1/2/2018 -9.9 2 BLB 3 226597 Simple 34076967 T . CI 1 3 not specified(B);Ciliary dyskinesia(B);Ciliary dyskinesia(US) 9/22/2017 -9.9 2 BLB 3 226600 Simple 35963491 G . CI 1 3 not specified(B);Ciliary dyskinesia(US);Ciliary dyskinesia(B) 12/4/2017 -9.9 2 BLB 3 226601 Simple 6880264 A . CI 1 3 not specified(B);Ciliary dyskinesia(B);Ciliary dyskinesia(US) 1/3/2018 -9.9 2 BLB 3 226604 Simple 141389162 C . CI 1 3 not specified(B);Ciliary dyskinesia(US);Ciliary dyskinesia(B) 12/4/2017 -9.9 2 BLB 3 226608 Simple 77344166 G . CI 1 3 not specified(B);Ciliary dyskinesia(B);Ciliary dyskinesia(US) 11/6/2017 -9.9 2 BLB 3 226609 Simple 78865254 A . CI 1 3 not specified(B);Ciliary dyskinesia(B);Ciliary dyskinesia(US) 11/6/2017 -9.9 2 BLB 3 226710 Simple 2738442 C . CI 1 6 Familial hypercholesterolemia(US);Familial hypercholesterolemia(LB);not specified(B);Familial hypercholesterolemia(US);not specified(B);Familial hypercholesterolemia(B) 6/22/2017 -20.94 1.333333333 BLB 3 226744 Simple 574893374 A . CI 1 4 "not specified(B);Thoracic aortic aneurysm and aortic dissection(US);not specified(B);Aortic aneurysm, familial thoracic 4(B)" 11/30/2017 -17.7 0.75 BLB 3 226748 Simple 193283041 C . CI 1 3 not specified(B);Familial hypertrophic cardiomyopathy 14(US);Cardiovascular phenotype(B) 10/31/2017 -11.1 1.333333333 BLB 3 226762 Simple 199789942 T . CI 1 3 not specified(B);Thoracic aortic aneurysm and aortic dissection(US);not specified(B) 7/10/2017 -11.7 1 BLB 3 226763 Simple 147735490 A . CI 1 4 "not specified(B);Thoracic aortic aneurysm and aortic dissection(US);Aortic aneurysm, familial thoracic 7(B);not specified(B)" 8/21/2017 -17.7 0.75 BLB 3 226781 Simple 372125621 C . CI 1 4 "not specified(B);not specified(B);Nonsyndromic Hearing Loss, Recessive(US);not specified(B)" 10/5/2017 -16.5 1.5 BLB 3 226787 Simple 114328138 T . CI 1 3 "not specified(B);Nonsyndromic Hearing Loss, Recessive(US);not specified(B)" 10/5/2017 -9.3 2.333333333 BLB 3 226812 Simple 73373171 A . CI 1 3 not specified(B);Hypertrophic cardiomyopathy(B);Cardiovascular phenotype(LB) 1/5/2018 -13.2 2.333333333 BLB 3 226843 Simple 73967567 C . CI 1 3 "not specified(B);Nemaline Myopathy, Recessive(US);Nemaline myopathy 2(B)" 8/15/2017 -11.1 1.333333333 BLB 3 227010 Simple 545191822 TGTTTGTT . CI 1 3 not specified(B);not specified(B);not specified(US) 3/29/2017 -10.5 2 BLB 3 227141 Simple 12615797 G . CI 1 10 "not specified(B);Distal myopathy Markesbery-Griggs type(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);Dilated Cardiomyopathy, Dominant(US);Hypertrophic cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);not specified(LB);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Cardiovascular phenotype(B)" 9/25/2017 -21.6 1 BLB 3 227186 Simple 775151738 G . CI 1 6 "not specified(LB);Dilated Cardiomyopathy, Dominant(US);Myofibrillar Myopathy, Dominant(US);not specified(US);not specified(LB);Myofibrillar myopathy, BAG3-related(LB);Dilated cardiomyopathy 1HH(LB)" 1/2/2018 -9.6 0.833333333 BLB 3 227333 Simple 148118523 A . CI 1 4 not specified(LB);Congenital disorder of glycosylation(US);not specified(LB);Congenital disorder of glycosylation type 1M(LB) 12/21/2017 -8.7 1 BLB 3 227337 Simple 374810953 A . CI 1 5 "not specified(LB);not specified(LB);Arrhythmogenic right ventricular cardiomyopathy, type 11(LB);Arrhythmogenic right ventricular cardiomyopathy, type 11(US);Arrhythmogenic right ventricular cardiomyopathy, type 11(LB)" 8/1/2017 -11.7 0.8 BLB 3 227342 Simple 372440854 T . CI 1 8 "Cardiovascular phenotype(LB);Cardiomyopathy, ARVC(US);Ectodermal dysplasia skin fragility syndrome(US);Epidermolysis bullosa, lethal acantholytic(US);Skin fragility woolly hair syndrome(US);Dilated cardiomyopathy with woolly hair and keratoderma(LB);Arrhythmogenic right ventricular cardiomyopathy, type 8(LB);not provided(B);not specified(LB)" 10/17/2017 -15.3 1.25 BLB 3 227446 Simple 371988639 A . CI 1 5 "not specified(LB);Cardiomyopathy, ARVC(US);Naxos disease(US);Naxos disease(LB);Arrhythmogenic right ventricular cardiomyopathy, type 12(LB);not specified(LB)" 1/15/2018 -9 1 BLB 3 227451 Simple 202038498 T . CI 1 6 "not specified(LB);Naxos disease(B);Arrhythmogenic right ventricular cardiomyopathy, type 12(B);Cardiovascular phenotype(LB);Naxos disease(US);Cardiomyopathy, ARVC(US);not specified(LB)" 12/21/2017 -15 1 BLB 3 227471 Simple 370920665 C . CI 1 6 not specified(LB);Cardio-facio-cutaneous syndrome(US);Noonan syndrome(US);not specified(LB);not provided(B);not specified(LB) 8/10/2017 -15 1.166666667 BLB 3 227502 Simple 371635492 T . CI 1 3 "not specified(LB);not specified(LB);Charcot-Marie-Tooth disease, type 2(LB)" 12/14/2017 -8.7 0.666666667 BLB 3 227503 Simple 762836610 A . CI 1 4 "not specified(LB);not specified(US);not specified(LB);Charcot-Marie-Tooth disease, type 2(B)" 11/27/2017 -11.37 1.75 BLB 3 227584 Simple 61742472 A . CI 1 6 "not specified(LB);Cardiovascular phenotype(LB);Atrial septal defect(US);Dilated Cardiomyopathy, Dominant(US);Hypertrophic cardiomyopathy(US);not specified(LB)" 1/16/2018 -9 1.333333333 BLB 3 227592 Simple 150450178 T . CI 1 7 "not specified(LB);Dilated Cardiomyopathy, Dominant(US);Hypertrophic cardiomyopathy(US);Atrial septal defect(US);Familial hypertrophic cardiomyopathy 14(LB);not specified(LB);Cardiovascular phenotype(LB)" 3/6/2018 -12.6 1 BLB 3 227624 Simple 185681684 A . CI 1 5 "not specified(LB);Aortic aneurysm, familial thoracic 7(LB);Thoracic aortic aneurysm and aortic dissection(US);not specified(LB);not specified(LB)" 12/29/2017 -12 0.8 BLB 3 227625 Simple 113607507 A . CI 1 4 "not specified(LB);Thoracic aortic aneurysm and aortic dissection(US);not specified(LB);Aortic aneurysm, familial thoracic 7(B)" 12/13/2017 -12 0.75 BLB 3 227722 Simple 143574079 G . CI 1 4 not specified(LB);Dilated cardiomyopathy 1KK(LB);Cardiovascular phenotype(US);not specified(LB) 8/24/2017 -9 1 BLB 3 227849 Simple 376613662 T . CI 1 4 "not specified(LB);Cardiomyopathy, ARVC(US);not specified(LB);Arrhythmogenic right ventricular cardiomyopathy, type 9(B)" 8/17/2017 -11.7 1 BLB 3 227926 Simple 200868190 A . CI 1 4 not specified(LB);not specified(US);Brugada syndrome(LB);not specified(LB) 6/20/2017 -8.97 1.25 BLB 3 227933 Simple 560476223 A . CI 1 10 "not specified(LB);Dilated Cardiomyopathy, Dominant(US);Sick sinus syndrome(US);Paroxysmal familial ventricular fibrillation(US);Brugada syndrome(US);Long QT syndrome(US);Progressive familial heart block(US);Romano-Ward syndrome(US);not specified(B);Brugada syndrome(B)" 6/18/2016 -16.2 1.2 BLB 3 227978 Simple 779963634 T . CI 1 4 "not specified(LB);Myoclonic epilepsy, familial infantile(US);not specified(LB);Epileptic encephalopathy, early infantile, 1(LB);Deafness, autosomal dominant 65(LB);Caused by mutation in the TBC1 domain family, member 24(LB)" 8/22/2016 -8.4 1.75 BLB 3 228063 Simple 751902051 A . CI 1 4 "not specified(LB);not specified(US);not specified(LB);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB)" 10/31/2017 -8.97 1 BLB 3 228526 Simple 201399429 A . CI 1 6 "not specified(US);Weissenbacher-Zweymuller syndrome(LB);Fibrochondrogenesis(LB);Nonsyndromic Hearing Loss, Dominant(LB);Otospondylomegaepiphyseal dysplasia(LB);Stickler Syndrome, Dominant(LB)" 6/14/2016 -15.27 1.166666667 BLB 3 228592 Simple 140913030 G . CI 1 3 not specified(US);Duchenne muscular dystrophy(LB);not specified(B) 11/28/2017 -8.64 1.666666667 BLB 3 228628 Simple 876657791 - . CI 1 6 "not specified(US);Dilated Cardiomyopathy, Dominant(US);Cardiomyopathy, ARVC(US);not specified(LB);not provided(LB);Arrhythmogenic right ventricular cardiomyopathy, type 10(LB)" 12/23/2017 -9.84 1.166666667 BLB 3 228630 Simple 780469370 G . CI 1 4 "not specified(US);not specified(LB);not provided(LB);Arrhythmogenic right ventricular cardiomyopathy, type 10(LB)" 12/23/2017 -9.24 1.25 BLB 3 228633 Simple 201845396 T . CI 1 4 "not specified(US);not specified(LB);Cardiovascular phenotype(LB);Arrhythmogenic right ventricular cardiomyopathy, type 10(LB)" 12/7/2017 -9.24 0.75 BLB 3 228678 Simple 139717960 A . CI 1 5 not specified(US);Otofaciocervical syndrome 1(LB);Branchiootorenal Spectrum Disorders(LB);not provided(LB);not specified(LB) 12/5/2017 -12.3 0.6 BLB 3 228686 Simple 200841830 T . CI 1 10 not specified(US);Acromicric dysplasia(LB);Geleophysic dysplasia(LB);Marfan syndrome(LB);MASS syndrome(LB);Ectopia lentis(LB);Weill-Marchesani syndrome(LB);Stiff skin syndrome(LB);Thoracic aortic aneurysm and aortic dissection(LB);not specified(B) 6/14/2016 -29.07 1.3 B 3 228691 Simple 767671406 - . CI 1 5 not specified(US);Hereditary cancer-predisposing syndrome(P);Multiple fibrofolliculomas(US);not provided(P);Multiple fibrofolliculomas(P) 11/16/2017 17.43 0.8 P 3 229141 Simple 199979457 C . CI 1 3 not specified(US);not specified(LB);Primary dilated cardiomyopathy(B);Hypertrophic cardiomyopathy(B) 12/7/2017 -9.27 1 BLB 3 229239 Simple 140927806 T . CI 1 4 "not specified(US);Pseudohypoaldosteronism, Type I, Recessive(LB);Pseudoprimary hyperaldosteronism(LB);Bronchiectasis with or without elevated sweat chloride 1(LB)" 3/20/2017 -9.3 1 BLB 3 230075 Simple 769849072 T . CI 1 4 Hereditary cancer-predisposing syndrome(LB);not specified(B);Familial cancer of breast(US);Hereditary cancer-predisposing syndrome(LB) 7/5/2017 -11.1 1.5 BLB 3 230091 Simple 199715101 A . CI 1 4 Hereditary cancer-predisposing syndrome(LB);not specified(LB);Familial cancer of breast(US);Hereditary cancer-predisposing syndrome(LB) 10/2/2017 -8.7 1 BLB 3 230446 Simple 749156425 T . CI 1 6 Hereditary cancer-predisposing syndrome(LB);Colorectal cancer(US);Neoplasm of the breast(US);not specified(LB);Familial cancer of breast(LB);Hereditary cancer-predisposing syndrome(LB) 12/29/2017 -12 1 BLB 3 230618 Simple 759520915 T . CI 1 5 Hereditary cancer-predisposing syndrome(LB);Juvenile Polyposis(US);not specified(LB);Juvenile polyposis syndrome(LB);Hereditary cancer-predisposing syndrome(LB) 11/2/2017 -11.4 1.4 BLB 3 231225 Simple 143097772 T . CI 1 4 Hereditary cancer-predisposing syndrome(LB);not specified(B);Ataxia-telangiectasia syndrome(US);Hereditary cancer-predisposing syndrome(LB) 11/22/2017 -11.1 1.25 BLB 3 231250 Simple 8176154 C . CI 1 4 Hereditary cancer-predisposing syndrome(LB);not specified(LB);Hereditary breast and ovarian cancer syndrome(US);Hereditary cancer-predisposing syndrome(LB) 3/8/2018 -8.7 1 BLB 3 231928 Simple 201222237 A . CI 1 4 Hereditary cancer-predisposing syndrome(US);not specified(B);Ataxia-telangiectasia syndrome(LB);not provided(US) 12/5/2017 -8.4 1.25 BLB 3 232743 Simple 200917541 A . CI 1 6 Hereditary cancer-predisposing syndrome(LB);Colorectal cancer(US);Neoplasm of the breast(US);not specified(LB);Hereditary cancer-predisposing syndrome(LB);Familial cancer of breast(LB) 12/15/2017 -12 1.166666667 BLB 3 233424 Simple 756363734 A . CI 1 4 "Hereditary cancer-predisposing syndrome(LP);Microcephaly, normal intelligence and immunodeficiency(LP);Microcephaly, normal intelligence and immunodeficiency(LP);not specified(US)" 12/14/2016 8.4 1.25 PLP 3 233868 Simple 876660695 A . CI 1 4 "Hereditary cancer-predisposing syndrome(LB);Fanconi anemia, complementation group O(US);Hereditary cancer-predisposing syndrome(LB);not specified(LB)" 12/26/2017 -9 1 BLB 3 234290 Simple 147946775 G . CI 1 7 "not specified(LB);Familial amyloid nephropathy with urticaria AND deafness(LB);Familial cold autoinflammatory syndrome(LB);Chronic infantile neurological, cutaneous and articular syndrome(LB);not specified(US);Cryopyrin associated periodic syndrome(US);Familial cold urticaria(US)" 11/29/2017 -12.87 1 BLB 3 234293 Simple 139814109 T . CI 1 4 "not specified(US);Chronic infantile neurological, cutaneous and articular syndrome(LB);Familial cold autoinflammatory syndrome(LB);Familial amyloid nephropathy with urticaria AND deafness(LB)" 11/3/2016 -9.3 1 BLB 3 234315 Simple 35193202 T . CI 1 4 "not specified(LB);Spinal muscular atrophy(US);Spinal muscular atrophy, distal, autosomal recessive, 1(B);Charcot-Marie-Tooth disease, axonal, type 2S(B);not specified(US)" 1/18/2018 -9.6 0.5 BLB 3 234339 Simple 150022314 G . CI 1 6 not specified(LB);Majeed syndrome(US);not specified(US);Majeed syndrome(B);Majeed syndrome(LB);Majeed syndrome(LB) 11/19/2017 -15 1 BLB 3 234820 Simple 79805025 T . CI 1 11 "not specified(US);Congenital Indifference to Pain(LB);Generalized epilepsy with febrile seizures plus(LB);Inherited Erythromelalgia(LB);Small fiber neuropathy(LB);Familial Febrile Seizures(LB);Severe myoclonic epilepsy in infancy(LB);Paroxysmal extreme pain disorder(LB);not specified(US);not provided(LB);Hereditary sensory and autonomic neuropathy type IIA(B);Generalized epilepsy with febrile seizures plus, type 7(B)" 3/29/2017 -30.57 1.090909091 B 3 234924 Simple 200440467 T . CI 1 4 "not provided(P);Spastic paraplegia 52, autosomal recessive(LP);not specified(US);Spastic paraplegia(P)" 11/9/2017 14.73 0.75 P 3 235232 Simple 76253513 A . CI 1 3 not provided(LB);Congenital disorder of glycosylation(US);not specified(B) 6/14/2016 -8.4 1.666666667 BLB 3 235235 Simple 61754130 C . CI 1 5 "not provided(LB);not specified(LB);Hereditary spastic paraplegia(US);not specified(B);Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant(B)" 1/10/2018 -18 0.8 BLB 3 235239 Simple 115330112 C . CI 1 5 not specified(US);Ch??diak-Higashi syndrome(LB);Ch??diak-Higashi syndrome(LB);Ch??diak-Higashi syndrome(LB);not provided(LB) 12/21/2017 -11.4 1.4 BLB 3 235367 Simple 72761794 T . CI 1 5 not provided(LB);Ch??diak-Higashi syndrome(US);Ch??diak-Higashi syndrome(B);Ch??diak-Higashi syndrome(LB);Ch??diak-Higashi syndrome(B) 12/22/2017 -17.4 1.4 BLB 3 235385 Simple 75820839 C . CI 1 3 not provided(US);not specified(B);Early infantile epileptic encephalopathy 12(LB) 12/18/2017 -9.27 1 BLB 3 235392 Simple 41312254 A . CI 1 3 not provided(LB);Gamma-aminobutyric acid transaminase deficiency(US);Gamma-aminobutyric acid transaminase deficiency(B) 1/2/2018 -9 1 BLB 3 235404 Simple 147543583 T . CI 1 3 not provided(B);not specified(B);Three M syndrome(US) 6/14/2016 -11.1 1.666666667 BLB 3 235431 Simple 151268759 T . CI 1 4 Non-ketotic hyperglycinemia(LP);Non-ketotic hyperglycinemia(B);not provided(LB);not provided(LB) 1/17/2018 -9 1 BLB 3 235607 Simple 35799469 C . CI 1 4 not provided(LB);Spastic paraplegia(B);Spastic ataxia Charlevoix-Saguenay type(US);not specified(B) 6/16/2017 -14.1 1.5 BLB 3 235608 Simple 144971200 C . CI 1 3 not provided(LB);Non-ketotic hyperglycinemia(US);Non-ketotic hyperglycinemia(B) 8/22/2017 -9 1 BLB 3 235634 Simple 145178162 A . CI 1 5 "not provided(LB);Spastic paraplegia 39(B);not specified(B);Spastic Paraplegia, Recessive(US);not specified(LB)" 10/13/2017 -17.4 1.2 BLB 3 235658 Simple 141246107 T . CI 1 3 not provided(LB);not specified(US);Non-ketotic hyperglycinemia(B) 10/19/2017 -8.97 1.333333333 BLB 3 235661 Simple 760502262 T . CI 1 3 not provided(US);not specified(LB);Spastic paraplegia(B) 1/23/2018 -9.27 1 BLB 3 235677 Simple 139658279 T . CI 1 4 not provided(LB);not specified(US);Bardet-Biedl syndrome(LB);Bardet-Biedl syndrome(LB) 5/31/2017 -8.67 1.75 BLB 3 235708 Simple 147936946 T . CI 1 3 not provided(US);Osteogenesis imperfecta type I(B);not specified(LB) 8/27/2017 -9.27 1 BLB 3 235716 Simple 782168634 A . CI 1 4 "not provided(LB);Cardiovascular phenotype(US);not specified(US);Periventricular nodular heterotopia 1(B);Melnick-Needles syndrome(B);Oto-palato-digital syndrome, type II(B);Frontometaphyseal dysplasia(B)" 10/12/2017 -9.27 1 BLB 3 235766 Simple 41280892 C . CI 1 4 Bardet-Biedl syndrome(B);not specified(B);Bardet-Biedl syndrome(LB);not provided(US) 5/7/2017 -14.67 1.75 BLB 3 236058 Simple 140236996 T . CI 1 6 "Deafness, autosomal dominant 12(P);Nonsyndromic Hearing Loss, Recessive(US);Nonsyndromic Hearing Loss, Dominant(P);not provided(P);Deafness, autosomal recessive 21(P);Inborn genetic diseases(LP)" 2/27/2017 25.2 1.5 P 3 236075 Simple 201150919 A . CI 1 5 "Stargardt disease 1(US);Retinitis Pigmentosa, Recessive(LB);Cone-Rod Dystrophy, Recessive(LB);Stargardt Disease, Recessive(LB);Macular degeneration(LB)" 6/14/2016 -12.27 1.2 BLB 3 236083 Simple 201602424 A . CI 1 5 "Stargardt disease 1(US);Cone-Rod Dystrophy, Recessive(LB);Retinitis Pigmentosa, Recessive(LB);Stargardt Disease, Recessive(LB);Macular degeneration(LB)" 6/14/2016 -12.27 1.2 BLB 3 236787 Simple 566485657 C . CI 1 5 Ataxia-telangiectasia syndrome(LB);Ataxia-telangiectasia syndrome(US);not specified(LB);Hereditary cancer-predisposing syndrome(LB);Hereditary cancer-predisposing syndrome(LB) 12/19/2017 -11.4 1.2 BLB 3 236807 Simple 200850440 G . CI 1 3 Bloom syndrome(B);not specified(US);Hereditary cancer-predisposing syndrome(LB) 9/13/2017 -9.27 1 BLB 3 236819 Simple 28377085 G . CI 1 3 Bloom syndrome(B);Bloom syndrome(US);Hereditary cancer-predisposing syndrome(LB) 1/4/2018 -9.3 0.666666667 BLB 3 236846 Simple 773097109 G . CI 1 6 Hereditary breast and ovarian cancer syndrome(LB);Fanconi anemia(US);Hereditary breast and ovarian cancer syndrome(US);Hereditary cancer-predisposing syndrome(LB);not provided(US);not specified(B) 12/16/2017 -12 1 BLB 3 236967 Simple 878853639 - . CI 1 3 Beckwith-Wiedemann syndrome(B);not specified(US);Beckwith-Wiedemann syndrome(LB) 1/11/2018 -9.27 0.666666667 BLB 3 237013 Simple 139983160 T . CI 1 3 "Emery-Dreifuss muscular dystrophy 1, X-linked(B);not specified(US);not specified(LB)" 11/3/2017 -9.27 0.666666667 BLB 3 237090 Simple 145040593 A . CI 1 4 Marfan syndrome(B);Thoracic aortic aneurysm and aortic dissection(B);not specified(US);not specified(LB);Cardiovascular phenotype(LB) 3/8/2017 -11.37 1.75 BLB 3 237106 Simple 187553035 T . CI 1 11 Marfan syndrome(US);Thoracic aortic aneurysm and aortic dissection(US);Ectopia lentis(LB);Acromicric dysplasia(LB);MASS syndrome(LB);Thoracic aortic aneurysm and aortic dissection(LB);Stiff skin syndrome(LB);Weill-Marchesani syndrome(LB);Marfan syndrome(LB);Geleophysic dysplasia(LB);not specified(LB);not provided(LB) 9/7/2016 -30.27 1.090909091 B 3 237128 Simple 1042819 T . CI 1 4 Hereditary nonpolyposis colon cancer(LB);Lynch syndrome(US);Hereditary cancer-predisposing syndrome(LB);Hereditary cancer-predisposing syndrome(LB) 12/26/2017 -8.4 1.5 BLB 3 237226 Simple 112113213 T . CI 1 8 Long QT syndrome(LB);Cardiovascular phenotype(LB);not specified(US);short QT syndrome(LB);Jervell and Lange-Nielsen syndrome(LB);Long QT syndrome(LB);Romano-Ward syndrome(LB);Familial atrial fibrillation(LB) 1/15/2018 -20.97 1.125 BLB 3 237628 Simple 143581690 T . CI 1 3 "Polycystic kidney disease, autosomal dominant(B);Polycystic kidney disease, autosomal dominant(US);not specified(B)" 12/29/2016 -11.7 1.333333333 BLB 3 237660 Simple 4151534 A . CI 1 3 Retinoblastoma(B);Retinoblastoma(LB);Hereditary cancer-predisposing syndrome(US) 12/27/2017 -9.3 0.333333333 BLB 3 237735 Simple 61744153 A . CI 1 9 "Hypercholesterolemia, autosomal dominant, type B(B);Hypobetalipoproteinemia, familial, 1(B);Familial hypercholesterolemia(B);Familial hypercholesterolemia(US);Familial hypercholesterolemia(US);Familial hypobetalipoproteinemia(US);not specified(LB);not specified(B);Familial hypercholesterolemia(LP);Familial hypercholesterolemia(LB)" 3/8/2018 -20.97 1.111111111 BLB 3 237739 Simple 72654423 C . CI 1 7 "Hypercholesterolemia, autosomal dominant, type B(B);Hypobetalipoproteinemia, familial, 1(B);Familial hypercholesterolemia(B);Familial hypercholesterolemia(US);Familial hypercholesterolemia(US);Familial hypercholesterolemia(LB);not specified(B);not specified(LB)" 1/3/2018 -23.94 1 BLB 3 237751 Simple 6413458 A . CI 1 6 "Hypercholesterolemia, autosomal dominant, type B(B);Hypobetalipoproteinemia, familial, 1(B);Familial hypercholesterolemia(LB);Familial hypobetalipoproteinemia(LB);not specified(B);Familial hypercholesterolemia(US);Familial hypercholesterolemia(B)" 8/15/2017 -24.27 0.833333333 BLB 3 237758 Simple 115230894 A . CI 1 7 "Hypocalcemia(LB);Familial hypocalciuric hypercalcemia(LB);Neonatal severe hyperparathyroidism(LB);Hypoparathyroidism familial isolated(LB);not specified(US);not specified(US);Hypocalciuric hypercalcemia, familial, type 1(LB);Hypocalcemia, autosomal dominant 1(LB)" 1/2/2018 -15.6 0.857142857 BLB 3 237762 Simple 150869744 T . CI 1 6 "Hypocalciuric hypercalcemia, familial, type 1(LB);Hypocalcemia, autosomal dominant 1(LB);not specified(US);Hypocalcemia(LB);Neonatal severe hyperparathyroidism(LB);Familial hypocalciuric hypercalcemia(LB);Hypoparathyroidism familial isolated(LB)" 10/11/2017 -15.27 1 BLB 3 237786 Simple 376069854 T . CI 1 4 Peutz-Jeghers syndrome(LB);Hereditary cancer-predisposing syndrome(US);Hereditary cancer-predisposing syndrome(LB);not specified(LB) 11/14/2017 -9.3 0.25 BLB 3 237787 Simple 755746417 A . CI 1 5 Peutz-Jeghers syndrome(US);not specified(LB);not specified(LB);Hereditary cancer-predisposing syndrome(US);Hereditary cancer-predisposing syndrome(LB) 2/14/2018 -9.6 0 BLB 3 237855 Simple 371315549 C . CI 1 5 not specified(US);not specified(LB);not specified(LB);not provided(LB);Cystic fibrosis(LB) 11/4/2017 -11.97 1.2 BLB 3 237869 Simple 5926 T . CI 1 7 Familial hypercholesterolemia(B);Familial hypercholesterolemia(B);Familial hypercholesterolemia(US);not specified(B);Familial hypercholesterolemia(LB);Familial hypercholesterolemia(US);Familial hypercholesterolemia(B) 1/12/2018 -26.94 1.142857143 B 3 237877 Simple 533551639 T . CI 1 4 Hereditary nonpolyposis colon cancer(LB);not specified(LB);not specified(US);Hereditary cancer-predisposing syndrome(LB) 1/10/2018 -9 0.75 BLB 3 237931 Simple 753803330 T . CI 1 4 Hereditary nonpolyposis colon cancer(LB);not specified(LB);Hereditary cancer-predisposing syndrome(US);Hereditary cancer-predisposing syndrome(LB) 2/16/2018 -9 0.5 BLB 3 237956 Simple 730882008 T . CI 1 5 Li-Fraumeni syndrome(P);not specified(US);Hereditary cancer-predisposing syndrome(P);not specified(LP);Li-Fraumeni syndrome(LP) 1/9/2018 17.7 0.6 P 3 237974 Simple 137854168 A . CI 1 3 Tuberous sclerosis 2(B);not specified(LB);Hereditary cancer-predisposing syndrome(US) 12/28/2017 -9 1 BLB 3 237987 Simple 150672640 A . CI 1 4 Tuberous sclerosis 2(B);Tuberous sclerosis syndrome(US);not specified(LB);Hereditary cancer-predisposing syndrome(LB) 12/21/2017 -12.3 0.75 BLB 3 238031 Simple 62642481 A . CI 1 5 Tuberous sclerosis 2(B);Tuberous sclerosis syndrome(US);Hereditary cancer-predisposing syndrome(US);not specified(US);not specified(LB) 11/14/2017 -9.9 0.4 BLB 3 238219 Simple 201118405 T . CI 1 5 "Spastic paraplegia 43, autosomal recessive(B);not specified(B);Neurodegeneration with brain iron accumulation 4(US);not specified(LB);Neurodegeneration with brain iron accumulation 4(LB)" 3/12/2018 -18.3 0.4 BLB 3 238220 Simple 202054484 T . CI 1 3 "Spastic paraplegia 43, autosomal recessive(B);Neurodegeneration with brain iron accumulation 4(US);not specified(LB)" 6/14/2016 -8.4 1.666666667 BLB 3 238279 Simple 117667651 A . CI 1 4 Joubert syndrome(LB);Meckel-Gruber syndrome(LB);not specified(B);Joubert syndrome(US);Meckel-Gruber syndrome(US) 1/19/2018 -9 1 BLB 3 238281 Simple 186486235 T . CI 1 5 Joubert syndrome(LB);Meckel-Gruber syndrome(LB);not specified(LB);Joubert syndrome(US);Meckel-Gruber syndrome(US);not specified(LB) 3/7/2018 -9.3 0.8 BLB 3 238312 Simple 139814895 G . CI 1 3 Fanconi anemia(B);Fanconi anemia(US);not provided(LB) 1/2/2018 -9.3 0.666666667 BLB 3 238317 Simple 118031800 C . CI 1 3 Fanconi anemia(B);Fanconi anemia(US);not provided(LB) 1/2/2018 -9.3 0.666666667 BLB 3 238319 Simple 79685648 C . CI 1 3 Fanconi anemia(B);Fanconi anemia(US);not provided(LB) 7/13/2017 -9.3 0.666666667 BLB 3 238320 Simple 138675752 T . CI 1 3 Fanconi anemia(B);Fanconi anemia(US);not specified(LB) 12/21/2017 -9.3 0.666666667 BLB 3 238361 Simple 372379166 T . CI 1 4 Rhabdoid tumor predisposition syndrome 2(B);Coffin-Siris syndrome(US);not specified(LB);Hereditary cancer-predisposing syndrome(LB) 12/18/2017 -12 0.75 BLB 3 238476 Simple 372931195 A . CI 1 3 Rhabdoid tumor predisposition syndrome 2(B);Coffin-Siris syndrome(US);Hereditary cancer-predisposing syndrome(LB) 12/23/2017 -9 1 BLB 3 238566 Simple 142908806 A . CI 1 6 "Long QT syndrome(B);Long QT syndrome(US);not specified(B);Cardiovascular phenotype(LB);Cardiac arrhythmia, ankyrin B-related(B);Cardiac arrhythmia, ankyrin B-related(LB)" 11/28/2017 -24 0.833333333 BLB 3 238570 Simple 142159132 G . CI 1 6 "Long QT syndrome(B);Long QT syndrome(US);not provided(B);Cardiovascular phenotype(B);Cardiac arrhythmia, ankyrin B-related(B);Cardiac arrhythmia, ankyrin B-related(LB)" 12/27/2017 -26.7 0.833333333 B 3 238571 Simple 141965666 T . CI 1 4 "Long QT syndrome(B);Long QT syndrome(US);not provided(B);Cardiac arrhythmia, ankyrin B-related(LB)" 12/20/2017 -15.3 0.25 BLB 3 238580 Simple 116128106 C . CI 1 4 Long QT syndrome(B);Long QT syndrome(US);not provided(B);Cardiovascular phenotype(LB) 12/21/2016 -14.7 1.25 BLB 3 238585 Simple 140926982 G . CI 1 4 Long QT syndrome(B);Cardiovascular phenotype(LB);Long QT syndrome(US);not provided(B) 12/28/2017 -15.3 0.5 BLB 3 238589 Simple 143161930 G . CI 1 3 Long QT syndrome(B);Long QT syndrome(US);not specified(LB) 6/1/2017 -8.7 1.333333333 BLB 3 238594 Simple 148851013 G . CI 1 3 Long QT syndrome(B);Long QT syndrome(US);Cardiovascular phenotype(LB) 8/24/2017 -9.3 0.333333333 BLB 3 238596 Simple 750774547 T . CI 1 4 Long QT syndrome(LB);Cardiovascular phenotype(US);not provided(LB);not specified(LB) 4/4/2017 -9 1.25 BLB 3 238684 Simple 150362958 A . CI 1 3 Ciliary dyskinesia(B);Ciliary dyskinesia(US);not specified(B) 11/27/2017 -11.7 1 BLB 3 238929 Simple 140048925 A . CI 1 4 Ciliary dyskinesia(B);Ciliary dyskinesia(US);not specified(LB);not provided(LB) 11/13/2017 -11.7 1.25 BLB 3 238937 Simple 72657371 A . CI 1 3 Ciliary dyskinesia(B);Ciliary dyskinesia(US);not provided(LB) 10/24/2017 -9.3 0.666666667 BLB 3 238951 Simple 878854453 - . CI 1 3 Dyskeratosis congenita(B);not specified(LB);not specified(US) 4/24/2017 -8.97 1.666666667 BLB 3 238995 Simple 138571942 A . CI 1 5 "Charcot-Marie-Tooth disease, axonal, type 2O(B);Charcot-Marie-Tooth, Type 2(US);Intellectual Disability, Dominant(US);Spinocerebellar Ataxia, Dominant(US);not specified(LB)" 12/8/2017 -9.9 0.8 BLB 3 239082 Simple 78484531 A . CI 1 4 Congenital contractural arachnodactyly(B);Cardiovascular phenotype(LB);not specified(US);not specified(B) 5/30/2017 -14.7 1.25 BLB 3 239309 Simple 368965066 T . CI 1 3 Colorectal cancer 10(B);not specified(LB);Hereditary cancer-predisposing syndrome(US) 1/11/2018 -9.3 0 BLB 3 239356 Simple 144656348 G . CI 1 4 Colorectal cancer 10(LB);not specified(LB);Hereditary cancer-predisposing syndrome(US);not specified(LB) 1/9/2018 -9.27 0.75 BLB 3 239382 Simple 200069356 A . CI 1 5 "Carney complex, type 1(LB);Carney complex(LB);Acrodysostosis(LB);Hereditary cancer-predisposing syndrome(US);not provided(LB)" 12/22/2017 -12.3 0.6 BLB 3 239398 Simple 762247126 A . CI 1 4 "Breast-ovarian cancer, familial 4(LB);Breast and Ovarian Cancer Susceptibility(US);not specified(LB);Hereditary cancer-predisposing syndrome(LB)" 12/23/2017 -9 1 BLB 3 239509 Simple 146099322 A . CI 1 4 Dystonia(LB);not specified(B);not provided(LB);not specified(LB) 2/28/2018 -14.4 0.75 BLB 3 239522 Simple 45477900 T . CI 1 4 "Loeys-Dietz syndrome 4(B);Cardiovascular phenotype(LB);Cardiomyopathy, ARVC(US);not specified(LB)" 2/12/2018 -12 0.75 BLB 3 239604 Simple 199643655 T . CI 1 5 Duchenne muscular dystrophy(B);not specified(US);Dilated cardiomyopathy 3B(US);not specified(LB);Cardiovascular phenotype(LB) 9/12/2017 -11.97 1.4 BLB 3 239614 Simple 370724251 T . CI 1 4 Duchenne muscular dystrophy(B);Cardiovascular phenotype(LB);Dilated cardiomyopathy 3B(US);not specified(LB) 10/27/2017 -12 0.75 BLB 3 239904 Simple 750722169 C . CI 1 5 Hereditary diffuse gastric cancer(LB);Hereditary diffuse gastric cancer(LB);Hereditary cancer-predisposing syndrome(US);Hereditary cancer-predisposing syndrome(LB);not specified(LB) 7/20/2017 -12.3 0.8 BLB 3 239945 Simple 138450923 A . CI 1 2 Wilms tumor 1(B);not specified(LB) 12/30/2017 -9 0.5 BLB 3 240047 Simple 150524807 A . CI 1 5 Tumor susceptibility linked to germline BAP1 mutations(LB);Tumor susceptibility linked to germline BAP1 mutations(US);Hereditary cancer-predisposing syndrome(LB);Hereditary cancer-predisposing syndrome(LB);not specified(LB) 11/8/2017 -11.7 1.2 BLB 3 240058 Simple 369277958 T . CI 1 4 Tumor susceptibility linked to germline BAP1 mutations(LB);Hereditary cancer-predisposing syndrome(US);Hereditary cancer-predisposing syndrome(LB);not specified(LB) 1/10/2018 -9.3 0.25 BLB 3 240146 Simple 756795016 G . CI 1 7 Juvenile polyposis syndrome(LB);Juvenile Polyposis(US);Myhre syndrome(US);Osler hemorrhagic telangiectasia syndrome(US);Hereditary cancer-predisposing syndrome(LB);Hereditary cancer-predisposing syndrome(LB);not specified(B) 12/21/2017 -15 1.142857143 BLB 3 240165 Simple 140354126 A . CI 1 4 Brugada syndrome 8(LB);not specified(US);not specified(LB);Cardiovascular phenotype(LB) 2/20/2018 -9.3 0.25 BLB 3 240266 Simple 146710448 G . CI 1 4 Long QT syndrome(B);Romano-Ward syndrome(US);Long QT syndrome(US);Cardiovascular phenotype(B) 12/26/2017 -12 1 BLB 3 240273 Simple 150994304 A . CI 1 5 Loeys-Dietz syndrome(US);Thoracic aortic aneurysm and aortic dissection(US);not specified(LB);Cardiovascular phenotype(LB);Thoracic aortic aneurysm and aortic dissection(LB) 1/8/2018 -9.3 0.8 BLB 3 240386 Simple 140566004 T . CI 1 4 "Colorectal cancer, susceptibility to, 12(LB);not specified(LB);not specified(LB);Hereditary cancer-predisposing syndrome(US)" 2/1/2018 -9.3 0.5 BLB 3 240480 Simple 149462407 T . CI 1 5 "Colorectal cancer, susceptibility to, 12(LB);not specified(US);not specified(LB);Hereditary cancer-predisposing syndrome(US);not specified(LB)" 1/12/2018 -9.57 0.8 BLB 3 240505 Simple 5744933 C . CI 1 3 "Colorectal cancer, susceptibility to, 12(B);not specified(LB);not specified(US)" 3/13/2018 -8.7 1 BLB 3 240525 Simple 142508245 T . CI 1 6 "Colorectal cancer, susceptibility to, 12(LB);not specified(US);not specified(LB);not specified(US);Hereditary cancer-predisposing syndrome(US);not provided(B)" 1/16/2018 -12.87 0.833333333 BLB 3 240537 Simple 5744948 G . CI 1 3 "Colorectal cancer, susceptibility to, 12(LB);not specified(US);not specified(B)" 12/17/2017 -9.3 0.666666667 BLB 3 240573 Simple 375198950 A . CI 1 3 "Colorectal cancer, susceptibility to, 12(LB);not specified(LB);Hereditary cancer-predisposing syndrome(LB)" 12/27/2017 -8.7 0.666666667 BLB 3 240699 Simple 112133109 A . CI 1 4 "Spastic paraplegia 39(B);Spastic Paraplegia, Recessive(US);not specified(B);not specified(B)" 7/16/2017 -17.7 1 BLB 3 240890 Simple 137856939 C . CI 1 4 Spastic paraplegia(B);Spastic ataxia Charlevoix-Saguenay type(US);not specified(LB);not specified(LB) 6/12/2017 -12.3 0.75 BLB 3 240893 Simple 116791509 T . CI 1 3 Spastic paraplegia(B);Spastic ataxia Charlevoix-Saguenay type(US);not specified(B) 9/9/2016 -12.3 1 BLB 3 240894 Simple 112630127 C . CI 1 3 Spastic paraplegia(B);Spastic ataxia Charlevoix-Saguenay type(US);not specified(B) 9/9/2016 -12.3 1 BLB 3 240898 Simple 148878361 C . CI 1 5 Spastic paraplegia(B);not specified(LB);Spastic ataxia Charlevoix-Saguenay type(US);not specified(LB);Spastic ataxia Charlevoix-Saguenay type(LB) 7/14/2017 -14.7 1.2 BLB 3 240901 Simple 146722795 T . CI 1 5 Spastic paraplegia(B);Spastic ataxia Charlevoix-Saguenay type(US);not specified(LB);Spastic ataxia Charlevoix-Saguenay type(LB);Spastic ataxia Charlevoix-Saguenay type(B) 12/18/2017 -17.7 1.2 BLB 3 240950 Simple 878854991 A . CI 1 5 "Spastic paraplegia 4, autosomal dominant(P);not specified(US);Spastic paraplegia 4, autosomal dominant(P);Inborn genetic diseases(LP);Spastic paraplegia 4, autosomal dominant(P)" 11/10/2017 19.83 1.2 P 3 241000 Simple 188807564 T . CI 1 5 Alstrom syndrome(LB);not specified(LB);Monogenic diabetes(US);not specified(LB);not specified(LB) 11/19/2017 -11.67 1.2 BLB 3 241053 Simple 34852231 G . CI 1 3 "Spastic paraplegia(B);Spastic Paraplegia, Recessive(US);not specified(B)" 10/17/2017 -12.3 0.333333333 BLB 3 241058 Simple 76728509 A . CI 1 3 "Spastic paraplegia(B);Spastic Paraplegia, Recessive(US);not specified(B)" 10/17/2017 -12.3 0.333333333 BLB 3 241060 Simple 147494935 A . CI 1 3 "Spastic paraplegia(B);Spastic Paraplegia, Recessive(US);not specified(LB)" 11/8/2017 -9.3 0.333333333 BLB 3 241080 Simple 141950577 C . CI 1 3 Gorlin syndrome(B);Medulloblastoma(B);Medulloblastoma(US);Hereditary cancer-predisposing syndrome(B) 12/27/2017 -12.3 0.666666667 BLB 3 241081 Simple 189234140 A . CI 1 3 Gorlin syndrome(B);Medulloblastoma(B);Medulloblastoma(US);Hereditary cancer-predisposing syndrome(LB) 12/27/2017 -9.3 0.666666667 BLB 3 241086 Simple 35166585 C . CI 1 3 Gorlin syndrome(B);Medulloblastoma(B);Medulloblastoma(US);Hereditary cancer-predisposing syndrome(B) 12/27/2017 -12.3 0.666666667 BLB 3 241106 Simple 186745328 T . CI 1 3 "Epileptic encephalopathy, early infantile, 1(B);Spinocerebellar ataxia, autosomal recessive 12(B);not provided(US);not specified(LB)" 1/4/2018 -9.3 0.333333333 BLB 3 241173 Simple 56118173 G . CI 1 4 Progressive familial heart block type 1B(B);Progressive familial heart block(US);not specified(LB);Cardiovascular phenotype(LB) 9/28/2017 -12 1 BLB 3 241175 Simple 878855029 . . CI 1 3 Progressive familial heart block type 1B(B);Brugada syndrome(US);Cardiovascular phenotype(B) 12/28/2017 -12.3 0.666666667 BLB 3 241176 Simple 71352737 A . CI 1 3 Progressive familial heart block type 1B(B);Sudden cardiac death(LP);not specified(B) 8/25/2017 -9 0.666666667 BLB 3 241319 Simple 77532752 T . CI 1 3 Fanconi anemia(B);Fanconi anemia(US);not specified(LB) 11/28/2017 -9.3 0.666666667 BLB 3 241337 Simple 377130948 T . CI 1 4 "Multiple endocrine neoplasia, type 2(LB);Multiple endocrine neoplasia, type 2b(LB);Multiple endocrine neoplasia, type 2a(LB);not specified(US)" 1/25/2017 -9 1.25 BLB 3 241343 Simple 145122337 A . CI 1 7 "Multiple endocrine neoplasia, type 2(B);Pheochromocytoma(US);Hirschsprung Disease, Dominant(US);Renal adysplasia(US);Multiple endocrine neoplasia(US);Hereditary cancer-predisposing syndrome(LB);not specified(LB)" 1/9/2018 -13.2 0.571428571 BLB 3 241385 Simple 541606391 - . CI 1 3 Charcot-Marie-Tooth disease type 2C(B);not specified(LB);not specified(US) 1/19/2018 -8.7 1 BLB 3 241440 Simple 45556032 A . CI 1 3 Fanconi anemia(B);Fanconi anemia(US);not specified(LB) 12/31/2017 -9.3 0.666666667 BLB 3 241441 Simple 201215734 A . CI 1 3 Fanconi anemia(B);Fanconi anemia(US);not specified(LB) 7/11/2017 -9 1 BLB 3 241461 Simple 147632811 T . CI 1 4 Spastic paraplegia(B);not specified(US);not provided(LB);not specified(US) 5/11/2017 -9 1.25 BLB 3 241500 Simple 138411915 A . CI 1 5 "Charcot-Marie-Tooth disease, type IV(B);not specified(LB);Mononeuropathy of the Median Nerve(US);Charcot-Marie-Tooth, Type 4(US);not specified(B)" 8/2/2017 -14.7 1.2 BLB 3 241503 Simple 17795193 A . CI 1 5 "Charcot-Marie-Tooth disease, type IV(B);Mononeuropathy of the Median Nerve(US);Charcot-Marie-Tooth, Type 4(US);not specified(B);not specified(B)" 12/14/2017 -18 1 BLB 3 241575 Simple 145436538 C . CI 1 4 Jeune thoracic dystrophy(B);Nephronophthisis(B);Jeune thoracic dystrophy(US);Joubert syndrome(US);not specified(LB) 11/29/2017 -9 1 BLB 3 241577 Simple 62624978 G . CI 1 3 "Dyskeratosis congenita(B);Dyskeratosis Congenita, Recessive(US);not specified(B)" 7/19/2017 -12.3 0.666666667 BLB 3 241581 Simple 200643329 C . CI 1 3 "Dyskeratosis congenita(B);Dyskeratosis Congenita, Recessive(US);not specified(LB)" 11/22/2017 -9.3 0.666666667 BLB 3 241596 Simple 116807842 G . CI 1 4 "Spastic paraplegia 11, autosomal recessive(B);Spastic Paraplegia, Recessive(US);not specified(LB);not specified(B)" 1/3/2018 -15.3 0.5 BLB 3 241605 Simple 142431229 T . CI 1 3 Arterial tortuosity syndrome(B);Arterial tortuosity syndrome(US);not specified(LB) 9/5/2017 -9.3 0.666666667 BLB 3 241609 Simple 140730386 A . CI 1 3 "Charcot-Marie-Tooth disease, type IV(B);Charcot-Marie-Tooth, Type 4(US);not specified(LB)" 12/19/2017 -9.3 0.666666667 BLB 3 241670 Simple 143279888 C . CI 1 3 Fanconi anemia(B);Fanconi anemia(US);not specified(LB) 12/20/2017 -9 1 BLB 3 241676 Simple 117707719 A . CI 1 3 Fanconi anemia(B);Fanconi anemia(US);not specified(LB) 10/9/2017 -9 1 BLB 3 241747 Simple 148846096 A . CI 1 5 Long QT syndrome(B);Cardiovascular phenotype(LB);not specified(US);not specified(LB);not specified(LB) 3/3/2017 -14.4 1.6 BLB 3 241753 Simple 147008323 T . CI 1 3 "Aortic aneurysm, familial thoracic 7(B);Thoracic aortic aneurysm and aortic dissection(US);Cardiovascular phenotype(B)" 2/16/2017 -11.7 1.333333333 BLB 3 241793 Simple 374749001 T . CI 1 4 "Multiple endocrine neoplasia, type 1(B);not specified(US);not specified(LB);not specified(LB)" 9/27/2017 -11.7 1 BLB 3 241843 Simple 139815340 A . CI 1 3 Autosomal recessive polycystic kidney disease(B);not specified(B);Autosomal recessive polycystic kidney disease(US) 11/18/2016 -11.7 1.333333333 BLB 3 242027 Simple 28362270 G . CI 1 3 "Hypercholesterolemia, autosomal dominant, 3(B);Hypercholesterolemia, autosomal dominant, 3(LB);Familial hypercholesterolemia(US)" 1/8/2018 -8.97 1.333333333 BLB 3 242028 Simple 41297883 T . CI 1 7 "Hypercholesterolemia, autosomal dominant, 3(B);Familial hypercholesterolemia(US);Familial hypobetalipoproteinemia(LB);Familial hypercholesterolemia(LB);Familial hypercholesterolemia(LB);not specified(B);Familial hypercholesterolemia(US)" 1/22/2018 -21.54 1 BLB 3 242053 Simple 112284114 C . CI 1 3 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome(B);Hereditary cancer-predisposing syndrome(US);not specified(LB) 12/29/2017 -9.3 0.333333333 BLB 3 242184 Simple 142743305 - . CI 1 3 "Charcot-Marie-Tooth disease, type IV(B);not specified(US);not specified(B)" 10/5/2017 -11.7 1 BLB 3 242203 Simple 370114378 A . CI 1 10 "Brugada syndrome(LB);Cardiovascular phenotype(LB);Brugada syndrome(US);Dilated Cardiomyopathy, Dominant(US);Progressive familial heart block(US);Paroxysmal familial ventricular fibrillation(US);Romano-Ward syndrome(US);Sick sinus syndrome(US);Long QT syndrome(US);not specified(B)" 12/15/2017 -13.2 1.1 BLB 3 242230 Simple 34528119 A . CI 1 5 "Dyskeratosis Congenita, Recessive(LB);Aplastic anemia(LB);Idiopathic fibrosing alveolitis, chronic form(LB);not specified(US);Idiopathic fibrosing alveolitis, chronic form(B);Dyskeratosis congenita, autosomal dominant, 2(B)" 1/5/2018 -15.27 1 BLB 3 242252 Simple 74555599 T . CI 1 2 "Dystonia(B);Segawa syndrome, autosomal recessive(B)" 12/4/2017 -11.4 1 BLB 3 242255 Simple 11564716 T . CI 1 5 "Dystonia(B);not specified(B);Segawa syndrome, autosomal recessive(US);not specified(LB);Segawa syndrome, autosomal recessive(LB)" 1/8/2018 -17.4 1 BLB 3 242263 Simple 76956014 A . CI 1 4 Brugada syndrome 4(B);Cardiovascular phenotype(B);Brugada syndrome(US);not provided(B) 1/5/2018 -17.7 1 BLB 3 242305 Simple 200771233 G . CI 1 3 "not specified(US);Pyogenic arthritis, pyoderma gangrenosum and acne(LB);Pyogenic arthritis, pyoderma gangrenosum and acne(B)" 7/7/2017 -9.3 0.666666667 BLB 3 242878 Simple 373175587 T . CI 1 2 not specified(B);Inborn genetic diseases(B) 3/29/2016 -10.8 2 BLB 3 245621 Simple 145005918 T . CI 1 3 "not specified(B);Intellectual Disability, Dominant(US);Mental retardation, autosomal dominant 6(B);Epileptic encephalopathy, early infantile, 27(B)" 1/19/2017 -12.3 1 BLB 3 245622 Simple 146792012 A . CI 1 3 "not specified(B);Intellectual Disability, Dominant(US);Mental retardation, autosomal dominant 6(B);Epileptic encephalopathy, early infantile, 27(B)" 9/12/2017 -11.1 1.333333333 BLB 3 245634 Simple 10979599 T . CI 1 6 not specified(LB);Familial dysautonomia(US);not provided(LB);Familial dysautonomia(B);not specified(LB);Familial dysautonomia(LB) 1/15/2018 -18.3 0.5 BLB 3 245637 Simple 183359489 T . CI 1 6 "not specified(LB);Spastic Paraplegia, Recessive(US);Intellectual Disability, Dominant(US);Hereditary sensory and autonomic neuropathy type II(US);not provided(B);Spastic paraplegia 30, autosomal recessive(LB);Hereditary sensory and autonomic neuropathy type IIC(LB);Mental retardation, autosomal dominant 9(LB)" 1/15/2018 -12.9 0.666666667 BLB 3 245659 Simple 111400494 A . CI 1 4 "not specified(B);not specified(B);Distal spinal muscular atrophy(US);Distal spinal muscular atrophy, autosomal recessive 4(LB);Charcot-Marie-Tooth disease, recessive intermediate c(LB)" 12/27/2017 -14.7 0.75 BLB 3 245663 Simple 148939995 T . CI 1 4 "not specified(LB);not specified(LB);Charcot-Marie-Tooth disease, type IV(LB);not specified(US)" 12/23/2017 -9 0.75 BLB 3 245685 Simple 200887429 A . CI 1 5 "not specified(US);Charcot-Marie-Tooth, Type 2(LB);Distal spinal muscular atrophy(LB);Peripheral axonal neuropathy(LB);Charcot-Marie-Tooth disease, type 2(US)" 7/14/2017 -9.6 0.8 BLB 3 245777 Simple 879253942 G . CI 1 3 not provided(P);Li-Fraumeni syndrome(US);Hereditary cancer-predisposing syndrome(P) 5/11/2017 9.9 2 PLP 3 245862 Simple 150066950 T . CI 1 4 Colorectal cancer 10(B);not specified(US);Hereditary cancer-predisposing syndrome(B);not specified(LB) 1/11/2018 -14.7 0.75 BLB 3 246185 Simple 143793213 A . CI 1 3 "not specified(US);Charcot-Marie-Tooth, Type 1(LB);Charcot-Marie-Tooth disease, type I(B)" 9/9/2017 -9.27 1 BLB 3 246197 Simple 552452448 A . CI 1 3 "not specified(US);Colorectal cancer, susceptibility to, 12(LB);not provided(B)" 12/25/2017 -9.3 0.333333333 BLB 3 246556 Simple 201241092 T . CI 1 8 "not specified(US);Scapuloperoneal spinal muscular atrophy(LB);Brachyolmia(LB);Distal spinal muscular atrophy, congenital nonprogressive(LB);Charcot-Marie-Tooth, Type 2(LB);Metatrophic dysplasia(LB);Spondylometaphyseal dysplasia(LB);Charcot-Marie-Tooth disease type 2C(B)" 11/13/2017 -24.27 1 BLB 3 246572 Simple 202176679 G . CI 1 7 "not specified(US);Congenital hypomyelinating neuropathy(LB);Congenital hypomyelinating neuropathy(LB);Roussy-L??vy syndrome(LB);Charcot-Marie-Tooth, Intermediate(LB);Charcot-Marie-Tooth, Type 1(LB);Charcot-Marie-Tooth disease, type I(LB)" 11/9/2017 -18.3 0.857142857 BLB 3 246675 Simple 144275591 T . CI 1 7 "Dilated cardiomyopathy with woolly hair and keratoderma(B);Arrhythmogenic right ventricular cardiomyopathy, type 8(B);Cardiovascular phenotype(LB);Skin fragility woolly hair syndrome(US);Ectodermal dysplasia skin fragility syndrome(US);Cardiomyopathy, ARVC(US);Epidermolysis bullosa, lethal acantholytic(US);not specified(LB)" 10/23/2017 -12.9 0.857142857 BLB 3 250933 Simple . . . CI 1 4 Familial hypercholesterolemia(P);Familial hypercholesterolemia(P);Familial hypercholesterolemia(P);Familial hypercholesterolemia(US) 3/25/2016 15.93 2 P 3 251012 Simple 72658855 T . CI 1 6 Familial hypercholesterolemia(B);Familial hypercholesterolemia(US);Familial hypercholesterolemia(LB);not specified(B);Familial hypercholesterolemia(B);Familial hypercholesterolemia(B) 1/26/2018 -26.67 1 BLB 3 251105 Simple 749038326 A . CI 1 5 Familial hypercholesterolemia(LP);Familial hypercholesterolemia(LB);not provided(P);Familial hypercholesterolemia(P);Familial hypercholesterolemia(LP) 5/3/2017 14.4 1.4 PLP 3 251112 Simple 879254456 G . CI 1 3 Familial hypercholesterolemia(LP);Familial hypercholesterolemia(US);Familial hypercholesterolemia(P) 8/4/2017 8.43 1.333333333 PLP 3 251162 Simple 774723292 T . CI 1 3 Familial hypercholesterolemia(LP);Familial hypercholesterolemia(US);Familial hypercholesterolemia(P) 3/30/2017 8.4 1.333333333 PLP 3 251406 Simple 199540175 T . CI 1 4 Familial hypercholesterolemia(LB);Familial hypercholesterolemia(B);Familial hypercholesterolemia(US);not specified(LB) 1/14/2018 -11.97 1.25 BLB 3 251510 Simple 767618089 G . CI 1 3 Familial hypercholesterolemia(US);Familial hypercholesterolemia(P);Familial hypercholesterolemia(LP) 3/30/2017 8.43 1.666666667 PLP 3 251519 Simple 879254717 C . CI 1 3 Familial hypercholesterolemia(US);Familial hypercholesterolemia(LP);Familial hypercholesterolemia(P) 3/30/2017 8.73 1.333333333 PLP 3 251525 Simple 879254719 A . CI 1 4 Familial hypercholesterolemia(LP);Familial hypercholesterolemia(LP);Familial hypercholesterolemia(LP);Familial hypercholesterolemia(US) 12/16/2016 8.43 1.5 PLP 3 251548 Simple 55792959 T . CI 1 6 Familial hypercholesterolemia(LB);Familial hypercholesterolemia(B);Familial hypercholesterolemia(US);Familial hypercholesterolemia(US);not specified(LB);Familial hypercholesterolemia(US) 1/19/2018 -12.51 1.333333333 BLB 3 251552 Simple 879254734 A . CI 1 4 Familial hypercholesterolemia(LP);Familial hypercholesterolemia(P);Familial hypercholesterolemia(LP);Familial hypercholesterolemia(LP) 12/16/2016 14.1 1.75 PLP 3 251611 Simple 748300548 T . CI 1 3 Familial hypercholesterolemia(P);Familial hypercholesterolemia(P);Familial hypercholesterolemia(US) 12/16/2016 11.13 1.666666667 PLP 3 251665 Simple 768430352 A . CI 1 6 Familial hypercholesterolemia(LP);Familial hypercholesterolemia(LP);Familial hypercholesterolemia(P);Familial hypercholesterolemia(US);Familial hypercholesterolemia(US);Familial hypercholesterolemia(US) 3/30/2017 10.89 1.666666667 PLP 3 251774 Simple 745343524 G . CI 1 4 Familial hypercholesterolemia(US);Familial hypercholesterolemia(LP);Familial hypercholesterolemia(P);Familial hypercholesterolemia(LP) 3/30/2017 11.43 1.5 PLP 3 251790 Simple 879254866 C . CI 1 4 Familial hypercholesterolemia(LP);Familial hypercholesterolemia(LP);Familial hypercholesterolemia(P);Familial hypercholesterolemia(US) 3/30/2017 11.43 1.5 PLP 3 251926 Simple 746939188 A . CI 1 3 Familial hypercholesterolemia(P);Familial hypercholesterolemia(US);Familial hypercholesterolemia(P) 12/16/2016 11.13 1.666666667 PLP 3 252035 Simple 879255025 C . CI 1 4 Familial hypercholesterolemia(US);Familial hypercholesterolemia(LP);Familial hypercholesterolemia(P);Familial hypercholesterolemia(LP) 3/30/2017 11.43 1.5 PLP 3 252077 Simple . . . CI 1 5 Familial hypercholesterolemia(P);Familial hypercholesterolemia(P);Familial hypercholesterolemia(US);Familial hypercholesterolemia(US);Familial hypercholesterolemia(US) 3/25/2016 9.99 2 PLP 3 252096 Simple 555292896 G . CI 1 4 Familial hypercholesterolemia(LB);not specified(LB);Familial hypercholesterolemia(LB);Familial hypercholesterolemia(LB) 1/8/2018 -11.4 1 BLB 3 252219 Simple 201573863 T . CI 1 8 Familial hypercholesterolemia(LP);Familial hypercholesterolemia(LP);Familial hypercholesterolemia(LP);Familial hypercholesterolemia(LP);Familial hypercholesterolemia(P);Familial hypercholesterolemia(US);Familial hypercholesterolemia(US);Familial hypercholesterolemias(P) 10/9/2017 22.56 1.375 P 3 252258 Simple 370018159 T . CI 1 3 Familial hypercholesterolemia(P);Familial hypercholesterolemia(US);Familial hypercholesterolemia(P) 7/19/2017 11.1 1 PLP 3 252298 Simple 750518671 T . CI 1 3 Familial hypercholesterolemia(LP);Familial hypercholesterolemia(US);Familial hypercholesterolemia(P) 3/30/2017 8.43 1.666666667 PLP 3 252330 Simple 773618064 GG . CI 1 8 Familial hypercholesterolemia(P);Familial hypercholesterolemia(P);Familial hypercholesterolemia(US);Familial hypercholesterolemia(P);not provided(P);Familial hypercholesterolemia(P);Familial hypercholesterolemia(P);Familial hypercholesterolemia(P) 3/30/2017 39.3 1.5 P 3 252466 Simple 148095899 A . CI 1 4 not specified(US);Cockayne syndrome(LB);Cerebrooculofacioskeletal Syndrome(LB);Macular degeneration(LB) 6/14/2016 -9.27 1.25 BLB 3 252485 Simple 12713681 G . CI 1 7 "not specified(LB);Familial hypercholesterolemia(LB);Familial hypobetalipoproteinemia(LB);not specified(B);Hypercholesterolemia, autosomal dominant, type B(B);Hypobetalipoproteinemia, familial, 1(B);Familial hypercholesterolemia(US);not specified(B)" 1/26/2018 -26.97 1 B 3 252685 Simple 147441359 T . CI 1 2 not specified(B);Immunodeficiency-centromeric instability-facial anomalies syndrome 2(B) 12/22/2017 -11.4 1 BLB 3 252720 Simple 143351214 A . CI 1 3 not specified(US);not specified(B);not specified(LB) 6/9/2017 -9.27 1 BLB 3 252721 Simple 145613857 T . CI 1 4 not specified(LB);Congenital disorder of glycosylation(US);Congenital disorder of glycosylation type 2C(LB);not specified(LB) 8/9/2017 -9 0.75 BLB 3 252762 Simple 137876961 G . CI 1 3 "not specified(LB);not specified(B);Cone-Rod Dystrophy, Recessive(US)" 6/30/2017 -8.4 1.666666667 BLB 3 252780 Simple 572667303 T . CI 1 2 not specified(LB);not provided(B) 5/15/2017 -8.7 1.5 BLB 3 254095 Simple 41268671 T . CI 1 9 "Hereditary sensory and autonomic neuropathy type IIA(US);Generalized epilepsy with febrile seizures plus, type 7(US);Severe myoclonic epilepsy in infancy(LB);Generalized epilepsy with febrile seizures plus(LB);Small fiber neuropathy(LB);Familial Febrile Seizures(LB);Paroxysmal extreme pain disorder(LB);Congenital Indifference to Pain(LB);Inherited Erythromelalgia(LB);not specified(US)" 7/21/2017 -21.6 0.888888889 BLB 3 254698 Simple 79125791 A . CI 1 3 Very long chain acyl-CoA dehydrogenase deficiency(US);not specified(LB);Very long chain acyl-CoA dehydrogenase deficiency(B) 12/19/2017 -9.3 0.666666667 BLB 3 254893 Simple 151193377 A . CI 1 3 "not specified(B);Congenital Myasthenic Syndrome, Dominant/Recessive(US);Myasthenic syndrome, congenital, 4a, slow-channel(B)" 1/26/2017 -11.7 1.333333333 BLB 3 254931 Simple 147756847 G . CI 1 3 Ch??diak-Higashi syndrome(US);Ch??diak-Higashi syndrome(LB);Ch??diak-Higashi syndrome(B) 1/5/2018 -9 1 BLB 3 254939 Simple 140434436 C . CI 1 4 Ch??diak-Higashi syndrome(US);not specified(LB);Ch??diak-Higashi syndrome(LB);Ch??diak-Higashi syndrome(LB) 12/18/2017 -9.3 0.5 BLB 3 254942 Simple 33998267 A . CI 1 3 Ch??diak-Higashi syndrome(US);not specified(B);Ch??diak-Higashi syndrome(B) 8/7/2017 -11.7 1 BLB 3 255044 Simple 34761049 C . CI 1 3 Alport syndrome(US);not specified(B);not specified(LB) 12/15/2017 -9.3 0.666666667 BLB 3 255361 Simple 377286472 C . CI 1 4 "not specified(B);Glycogen storage disease, type II(US);not specified(B);Glycogen storage disease, type II(B)" 1/11/2018 -17.7 1 BLB 3 255780 Simple 61731628 C . CI 1 3 Glycogen phosphorylase kinase deficiency(US);not specified(LB);Glycogen storage disease IXc(B) 12/8/2017 -9.3 0.333333333 BLB 3 255801 Simple 138490756 T . CI 1 5 "Cardiovascular phenotype(B);Ehlers-Danlos syndrome, hydroxylysine-deficient(US);not specified(LB);Ehlers-Danlos syndrome, hydroxylysine-deficient(LB);not specified(LB)" 12/19/2017 -14.1 1 BLB 3 255842 Simple 200770684 T . CI 1 8 "Congenital Myasthenic Syndrome, Recessive(LB);Hyperkalemic Periodic Paralysis(LB);Hypokalemic periodic paralysis(LB);Paramyotonia congenita of von Eulenburg(LB);Potassium aggravated myotonia(LB);not specified(LB);Hyperkalemic Periodic Paralysis Type 1(B);Potassium aggravated myotonia(B);Paramyotonia congenita of von Eulenburg(B);Hypokalemic periodic paralysis, type 2(B);Hyperkalemic Periodic Paralysis Type 1(B);Congenital myasthenic syndrome, acetazolamide-responsive(B)" 10/12/2017 -30 0.75 B 3 255852 Simple 148028364 G . CI 1 7 "Potassium aggravated myotonia(LB);Hypokalemic periodic paralysis(LB);Hyperkalemic Periodic Paralysis(LB);Paramyotonia congenita of von Eulenburg(LB);Congenital Myasthenic Syndrome, Recessive(LB);Hyperkalemic Periodic Paralysis Type 1(B);not specified(LB)" 6/20/2017 -24 0.857142857 BLB 3 255928 Simple 200091822 A . CI 1 4 "Permanent neonatal diabetes mellitus(LB);Transient Neonatal Diabetes, Dominant(LB);Hyperinsulinism, Dominant/Recessive(LB);not specified(US)" 6/14/2016 -9.27 1.25 BLB 3 255945 Simple 373465241 A . CI 1 3 not specified(US);not specified(B);Tuberous sclerosis 1(B) 12/27/2017 -11.67 1.333333333 BLB 3 255976 Simple 61743299 T . CI 1 5 "Familial hypercholesterolemia(LB);not provided(B);Hypercholesterolemia, autosomal dominant, type B(B);Hypobetalipoproteinemia, familial, 1(B);Familial hypercholesterolemia(US);not specified(B)" 1/22/2018 -21.27 0.8 BLB 3 255977 Simple 1801702 G . CI 1 7 "Familial hypercholesterolemia(B);Familial hypobetalipoproteinemia(LB);Familial hypercholesterolemia(LB);not specified(B);Hypercholesterolemia, autosomal dominant, type B(B);Hypobetalipoproteinemia, familial, 1(B);Familial hypercholesterolemia(B);Familial hypercholesterolemia(B)" 8/22/2017 -34.8 1 B 3 255978 Simple 12713450 A . CI 1 7 "Familial hypercholesterolemia(US);Familial hypercholesterolemia(LB);Familial hypobetalipoproteinemia(LB);not specified(B);Hypercholesterolemia, autosomal dominant, type B(B);Hypobetalipoproteinemia, familial, 1(B);Familial hypercholesterolemia(US);Familial hypercholesterolemia(B)" 8/21/2017 -24.54 1 BLB 3 255979 Simple 13306194 A . CI 1 5 "Familial hypobetalipoproteinemia(LB);Familial hypercholesterolemia(LB);Familial hypercholesterolemia(US);Hypercholesterolemia, autosomal dominant, type B(B);Hypobetalipoproteinemia, familial, 1(B);Familial hypercholesterolemia(B)" 7/15/2017 -18.27 0.8 BLB 3 255981 Simple 1801700 A . CI 1 6 "Familial hypercholesterolemia(US);Familial hypobetalipoproteinemia(LB);Familial hypercholesterolemia(LB);not specified(B);Hypercholesterolemia, autosomal dominant, type B(B);Hypobetalipoproteinemia, familial, 1(B);Familial hypercholesterolemia(B)" 8/21/2017 -24.27 0.833333333 BLB 3 255982 Simple 72653071 T . CI 1 5 "Familial hypobetalipoproteinemia(US);Familial hypercholesterolemia(US);Familial hypercholesterolemia(LB);not specified(LB);Hypercholesterolemia, autosomal dominant, type B(B);Hypobetalipoproteinemia, familial, 1(B)" 2/22/2018 -12.6 0.4 BLB 3 255987 Simple 12713675 T . CI 1 5 "Familial hypercholesterolemia(LB);not provided(B);Hypercholesterolemia, autosomal dominant, type B(B);Hypobetalipoproteinemia, familial, 1(B);Familial hypercholesterolemia(US);not specified(B)" 1/22/2018 -21.27 0.8 BLB 3 255988 Simple 72653093 A . CI 1 4 "Familial hypercholesterolemia(US);Familial hypobetalipoproteinemia(US);Hypercholesterolemia, autosomal dominant, type B(B);Hypobetalipoproteinemia, familial, 1(B);Familial hypercholesterolemia(LB)" 1/5/2018 -9.6 0.5 BLB 3 255990 Simple 12720855 G . CI 1 5 "Familial hypercholesterolemia(LB);not provided(B);Hypercholesterolemia, autosomal dominant, type B(B);Hypobetalipoproteinemia, familial, 1(B);Familial hypercholesterolemia(US);not specified(B)" 1/22/2018 -21.27 0.8 BLB 3 256052 Simple 111695726 G . CI 1 4 "Congenital Muscular Dystrophy, LAMA2-related(US);not specified(B);not specified(B);Laminin alpha 2-related dystrophy(B)" 11/27/2017 -18.3 0.75 BLB 3 256069 Simple 149347601 A . CI 1 4 "Congenital Muscular Dystrophy, LAMA2-related(US);not specified(LB);Laminin alpha 2-related dystrophy(B);not specified(LB)" 12/18/2017 -12.3 0.5 BLB 3 256072 Simple 35579821 A . CI 1 5 "not specified(B);Congenital Muscular Dystrophy, LAMA2-related(US);not specified(LB);not specified(LB);Laminin alpha 2-related dystrophy(B)" 1/18/2018 -17.7 0.8 BLB 3 256114 Simple 36113295 C . CI 1 3 "Chronic granulomatous disease(US);not specified(LB);Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2(B)" 8/7/2017 -9.3 0.666666667 BLB 3 256135 Simple 78926093 A . CI 1 2 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy(LB);not specified(B) 7/25/2017 -9 0.5 BLB 3 256159 Simple 8187798 G . CI 1 4 not specified(B);Progressive intrahepatic cholestasis(US);Familial Intrahepatic Cholestasis(US);not specified(LB) 4/12/2017 -9.6 1 BLB 3 256250 Simple 145877746 C . CI 1 3 not specified(US);not specified(B);Cystic fibrosis(LB) 8/31/2017 -9.3 0.666666667 BLB 3 256386 Simple 200355885 A . CI 1 6 "Central core disease(LB);Neuromuscular disease, congenital, with uniform type 1 fiber(LB);Multiminicore Disease(LB);Malignant hyperthermia susceptibility(LB);not specified(LB);not specified(LB)" 1/17/2018 -17.7 1 BLB 3 256488 Simple 145434723 T . CI 1 7 "not specified(US);Malignant hyperthermia susceptibility(LB);Neuromuscular disease, congenital, with uniform type 1 fiber(LB);Multiminicore Disease(LB);Central core disease(LB);RYR1-Related Disorders(B);not specified(LB)" 1/12/2018 -21.27 0.857142857 BLB 3 256491 Simple 200780880 T . CI 1 6 "not specified(US);Central core disease(LB);Multiminicore Disease(LB);Malignant hyperthermia susceptibility(LB);Neuromuscular disease, congenital, with uniform type 1 fiber(LB);RYR1-Related Disorders(US)" 7/25/2017 -12.57 1 BLB 3 256727 Simple 150441555 T . CI 1 2 not specified(B);Glycogen storage disease type III(B) 3/2/2018 -12 0 BLB 3 257453 Simple 202004658 T . CI 1 4 "Nemaline Myopathy, Dominant(US);not specified(LB);not specified(LB);Nemaline myopathy 6(B)" 10/12/2017 -12.3 0.5 BLB 3 257770 Simple 140688592 A . CI 1 3 "Nemaline Myopathy, Recessive(US);not specified(B);Nemaline myopathy 2(B)" 1/15/2018 -11.7 1 BLB 3 257773 Simple 147305883 C . CI 1 3 "Nemaline Myopathy, Recessive(US);not specified(LB);Nemaline myopathy 2(B)" 1/26/2018 -9.3 0.333333333 BLB 3 257814 Simple 201169452 T . CI 1 4 not specified(B);not provided(US);Nemaline myopathy 2(LB);not specified(LB) 12/13/2017 -11.7 0.75 BLB 3 257815 Simple 74482326 T . CI 1 4 not specified(B);not provided(US);Nemaline myopathy 2(LB);not specified(LB) 12/13/2017 -11.7 0.75 BLB 3 257833 Simple 114853127 C . CI 1 4 "Nemaline Myopathy, Recessive(US);not specified(B);not specified(LB);Nemaline myopathy 2(B)" 1/4/2018 -15.3 0.75 BLB 3 257857 Simple 187489343 A . CI 1 3 not specified(LB);Ciliary dyskinesia(US);Ciliary dyskinesia(B) 5/7/2017 -9 1.333333333 BLB 3 257867 Simple 113653972 A . CI 1 3 not specified(B);Ciliary dyskinesia(US);Ciliary dyskinesia(LB) 10/12/2017 -8.7 1 BLB 3 258016 Simple 144236383 G . CI 1 3 Ciliary dyskinesia(US);Ciliary dyskinesia(B);not provided(LB) 6/7/2017 -9.3 0.666666667 BLB 3 258166 Simple 201769668 T . CI 1 5 "Charcot-Marie-Tooth, Type 2(US);Distal hereditary motor neuronopathy(US);not specified(LB);Charcot-Marie-Tooth disease type 2F(LB);not specified(LB)" 12/5/2017 -9.6 0.8 BLB 3 258480 Simple 41272669 T . CI 1 3 "Congenital hyperammonemia, type I(US);not specified(LB);Congenital hyperammonemia, type I(B)" 10/27/2017 -9.3 0.333333333 BLB 3 258557 Simple 117061430 G . CI 1 5 "not specified(B);Spinal muscular atrophy(US);not specified(B);Spinal muscular atrophy, distal, autosomal recessive, 1(B);Charcot-Marie-Tooth disease, axonal, type 2S(B);Spinal muscular atrophy, distal, autosomal recessive, 1(LB)" 1/3/2018 -19.8 1.4 BLB 3 258562 Simple 34617762 T . CI 1 3 "Spinal muscular atrophy(US);not specified(LB);Spinal muscular atrophy, distal, autosomal recessive, 1(B);Charcot-Marie-Tooth disease, axonal, type 2S(B)" 1/10/2018 -9 1 BLB 3 258583 Simple 61733050 A . CI 1 4 "Congenital Muscular Dystrophy, ITGA7-related(US);not specified(B);not provided(LB);Muscular dystrophy, congenital, due to integrin alpha-7 deficiency(B)" 12/15/2017 -15.3 0.5 BLB 3 258589 Simple 148190047 T . CI 1 5 "not specified(LB);Congenital Muscular Dystrophy, ITGA7-related(US);not specified(LB);not specified(LB);Muscular dystrophy, congenital, due to integrin alpha-7 deficiency(B)" 12/15/2017 -15 0.8 BLB 3 258877 Simple 779674923 GCCGCC . CI 1 3 not specified(B);Townes-Brocks syndrome 1(US);Townes syndrome(LB) 2/28/2017 -8.7 1.333333333 BLB 3 258938 Simple 34973695 A . CI 1 4 "Hereditary pyropoikilocytosis(LB);Spherocytosis, Recessive(LB);Elliptocytosis(LB);not specified(US)" 4/18/2017 -9.3 1 BLB 3 258943 Simple 857725 G . CI 1 4 "Elliptocytosis(LB);Hereditary pyropoikilocytosis(LB);Spherocytosis, Recessive(LB);not specified(US)" 11/3/2016 -9.3 1 BLB 3 258980 Simple 777499631 A . CI 1 3 not specified(US);not specified(B);Early infantile epileptic encephalopathy(LB) 12/19/2017 -8.67 1.333333333 BLB 3 259071 Simple 191337920 A . CI 1 4 not specified(US);not specified(LB);not specified(LB);Dysferlinopathy(LB) 3/15/2018 -8.97 1.25 BLB 3 259074 Simple 116733194 A . CI 1 3 not specified(US);Dysferlinopathy(B);not specified(LB) 12/7/2017 -9.3 0.333333333 BLB 3 259302 Simple 148970984 T . CI 1 4 not specified(US);Collagen VI-related myopathy(LB);not specified(LB);Bethlem myopathy 1(LB) 3/7/2018 -9.3 0.5 BLB 3 259386 Simple 34192549 T . CI 1 2 "Age-related cortical cataract(B);Cataract 6, multiple types(B)" 5/15/2017 -12 1 BLB 3 259561 Simple 35829419 A . CI 1 6 "Familial cold autoinflammatory syndrome(B);Chronic infantile neurological, cutaneous and articular syndrome(B);Familial amyloid nephropathy with urticaria AND deafness(B);not specified(B);not specified(B);Cryopyrin associated periodic syndrome(B)" 10/31/2017 -34.8 1.166666667 B 3 259628 Simple 56245238 A . CI 1 6 "Pena-Shokeir syndrome type I(US);Congenital Myasthenic Syndrome, Recessive(US);not specified(LB);not specified(LB);Pena-Shokeir syndrome type I(LB);Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency(LB);not specified(US)" 6/6/2017 -9.9 0.833333333 BLB 3 259661 Simple 149858290 G . CI 1 3 "Congenital Muscular Dystrophy, CHKB-related(US);not specified(LB);Muscular dystrophy, congenital, megaconial type(B)" 10/17/2017 -9.3 0.333333333 BLB 3 259799 Simple 79843573 C . CI 1 3 "Congenital Myasthenic Syndrome, Recessive(US);not specified(B);Pena-Shokeir syndrome type I(B);Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency(B)" 3/13/2018 -12.3 0.333333333 BLB 3 259805 Simple 41279055 C . CI 1 6 "not specified(LB);Congenital Myasthenic Syndrome, Recessive(US);not specified(LB);not specified(US);not provided(LB);Pena-Shokeir syndrome type I(LB);Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency(LB)" 12/4/2017 -12.3 1 BLB 3 259812 Simple 56044404 C . CI 1 4 "not specified(LB);Congenital Myasthenic Syndrome, Recessive(US);Pena-Shokeir syndrome type I(B);Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency(B);not specified(LB)" 1/4/2018 -12 0.75 BLB 3 259815 Simple 34315917 C . CI 1 3 not specified(LB);Familial Intrahepatic Cholestasis(US);not specified(B) 6/14/2016 -8.4 1.666666667 BLB 3 259829 Simple 368602234 GG . CI 1 4 "Glycogen storage disease, type V(US);not specified(B);not specified(US);Glycogen storage disease, type V(B)" 10/23/2017 -11.4 1.25 BLB 3 260011 Simple 145877279 A . CI 1 4 Renal dysplasia and retinal aplasia(US);Bardet-Biedl syndrome(US);not specified(LB);Senior-Loken syndrome 7(B);Bardet-Biedl syndrome 16(B) 4/17/2017 -9.6 1 BLB 3 260036 Simple 199789331 C . CI 1 3 not specified(US);not specified(B);Myotilinopathy(LB) 10/10/2017 -9.3 0.666666667 BLB 3 260216 Simple 3747834 G . CI 1 4 "Limb-Girdle Muscular Dystrophy, Recessive(US);Bardet-Biedl syndrome(US);Bardet-Biedl syndrome(B);not specified(B)" 5/23/2017 -12.6 1 BLB 3 260375 Simple 73122634 T . CI 1 3 "not provided(LB);Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10(B);not specified(B)" 1/3/2018 -15 0.666666667 BLB 3 260448 Simple 142482745 G . CI 1 3 "not specified(US);not specified(B);Charcot-Marie-Tooth disease, type IV(LB)" 12/8/2017 -8.67 1.333333333 BLB 3 260676 Simple 7212549 G . CI 1 3 Meckel-Gruber syndrome(US);not specified(B);Joubert syndrome(B);Meckel-Gruber syndrome(B) 6/16/2017 -11.7 1 BLB 3 260979 Simple 201042940 C . CI 1 3 Ciliary dyskinesia(US);Ciliary dyskinesia(B);not specified(B) 12/19/2017 -12.3 0.666666667 BLB 3 261278 Simple 147131452 A . CI 1 4 SEPN1-Related Disorders(US);not specified(LB);not specified(LB);Eichsfeld type congenital muscular dystrophy(B) 12/15/2017 -12.3 0.5 BLB 3 261284 Simple 139020143 A . CI 1 4 not specified(US);SEPN1-Related Disorders(US);not specified(LB);Eichsfeld type congenital muscular dystrophy(B) 3/13/2018 -9.57 0.75 BLB 3 261567 Simple 116621885 C . CI 1 3 Welander distal myopathy(US);not specified(B);Welander distal myopathy(B) 1/2/2018 -12.3 0.666666667 BLB 3 261691 Simple 201454433 T . CI 1 3 not specified(US);not specified(LB);Walker-Warburg congenital muscular dystrophy(B) 2/22/2018 -9.3 0.333333333 BLB 3 261758 Simple 139053702 G . CI 1 3 Bardet-Biedl syndrome(US);not specified(B);Bardet-Biedl syndrome(B) 8/24/2017 -12.3 0.666666667 BLB 3 261781 Simple 115504901 C . CI 1 5 not specified(B);Joubert syndrome(US);Jeune thoracic dystrophy(US);Jeune thoracic dystrophy(B);Nephronophthisis(B);not specified(LB) 11/2/2017 -15 0.8 BLB 3 261849 Simple 11104729 C . CI 1 9 not specified(B);Leber congenital amaurosis(US);Renal dysplasia and retinal aplasia(US);Bardet-Biedl syndrome(US);Joubert syndrome(US);Meckel-Gruber syndrome(US);not specified(LB);not provided(LB);Joubert syndrome(B);Meckel-Gruber syndrome(B);Nephronophthisis(B) 6/30/2017 -18.9 1 BLB 3 262059 Simple 78847357 A . CI 1 3 "Myopathy, areflexia, respiratory distress, and dysphagia, early-onset(US);not specified(LB);Myopathy, areflexia, respiratory distress, and dysphagia, early-onset(B)" 12/11/2017 -9.3 0.333333333 BLB 3 262072 Simple 35591368 T . CI 1 3 "Myopathy, areflexia, respiratory distress, and dysphagia, early-onset(US);not specified(B);Myopathy, areflexia, respiratory distress, and dysphagia, early-onset(B)" 8/7/2017 -11.7 1 BLB 3 262078 Simple 113794264 T . CI 1 3 "Myopathy, areflexia, respiratory distress, and dysphagia, early-onset(US);not specified(B);Myopathy, areflexia, respiratory distress, and dysphagia, early-onset(B)" 1/11/2018 -11.7 1 BLB 3 262096 Simple 41274877 G . CI 1 4 Hyperphosphatasia-intellectual disability syndrome(US);not specified(LB);Hyperphosphatasia with mental retardation syndrome 2(B);not specified(B) 3/8/2018 -15.3 0.5 BLB 3 262099 Simple 142562923 T . CI 1 4 Hyperphosphatasia-intellectual disability syndrome(US);not specified(B);not provided(LB);Hyperphosphatasia with mental retardation syndrome 2(B) 1/5/2018 -15.3 0.25 BLB 3 262298 Simple 13319347 T . CI 1 4 "Cardiovascular phenotype(LB);Thoracic aortic aneurysm and aortic dissection(US);not specified(LB);Aortic aneurysm, familial thoracic 7(LB)" 2/20/2018 -9 0.75 BLB 3 262313 Simple 139229738 C . CI 1 3 "not specified(US);Ehlers-Danlos syndrome, musculocontractural type(B);not specified(LB)" 11/16/2017 -9.27 0.666666667 BLB 3 262619 Simple 74930168 C . CI 1 3 Ellis-van Creveld Syndrome(US);not specified(LB);Chondroectodermal dysplasia(B);Curry-Hall syndrome(B) 9/22/2017 -9.3 0.333333333 BLB 3 262659 Simple 114120664 C . CI 1 3 Cohen syndrome(US);not specified(B);Cohen syndrome(B) 11/22/2017 -12.3 0.666666667 BLB 3 262701 Simple 112300370 C . CI 1 3 not specified(US);Nephronophthisis(B);not specified(LB) 7/17/2017 -9.27 1 BLB 3 262703 Simple 112386774 C . CI 1 3 not specified(US);Nephronophthisis(B);not specified(LB) 7/19/2017 -9.27 1 BLB 3 262706 Simple 112749193 A . CI 1 3 not specified(US);Nephronophthisis(B);not specified(LB) 7/19/2017 -9.27 1 BLB 3 262707 Simple 112144165 A . CI 1 3 not specified(US);Nephronophthisis(B);not specified(LB) 7/19/2017 -9.27 1 BLB 3 262899 Simple 509504 G . CI 1 5 Familial hypercholesterolemia(US);Familial hypobetalipoproteinemia(LB);Familial hypercholesterolemia(LB);not specified(B);Familial hypercholesterolemia(B) 6/2/2017 -18.27 1 BLB 3 262900 Simple 28362263 A . CI 1 6 "Familial hypobetalipoproteinemia(LB);Familial hypercholesterolemia(LB);Hypercholesterolemia, autosomal dominant, 3(LB);Hypercholesterolemia, autosomal dominant, 3(B);Familial hypercholesterolemia(US);not specified(LB)" 3/12/2018 -18.27 0.833333333 BLB 3 262902 Simple 28385701 T . CI 1 7 "Familial hypercholesterolemia(US);Familial hypobetalipoproteinemia(LB);Familial hypercholesterolemia(LB);Hypercholesterolemia, autosomal dominant, 3(B);Familial hypercholesterolemia(B);not specified(B);Familial hypercholesterolemia(US)" 8/14/2017 -24.54 1 BLB 3 262906 Simple 11800243 A . CI 1 6 "Familial hypercholesterolemia(US);Familial hypercholesterolemia(LB);Familial hypobetalipoproteinemia(LB);Hypercholesterolemia, autosomal dominant, 3(B);Familial hypercholesterolemia(B);not specified(B)" 8/18/2017 -24.27 0.833333333 BLB 3 262907 Simple 28385710 T . CI 1 5 "Familial hypercholesterolemia(US);Familial hypobetalipoproteinemia(LB);Familial hypercholesterolemia(LB);Hypercholesterolemia, autosomal dominant, 3(B);Familial hypercholesterolemia(B)" 12/29/2017 -18.27 0.8 BLB 3 263120 Simple 34218557 A . CI 1 4 Bardet-Biedl syndrome(US);Bardet-Biedl syndrome(B);Bardet-Biedl syndrome(B);Bardet-Biedl syndrome(B) 9/20/2017 -17.1 1.25 BLB 3 263144 Simple 145049849 C . CI 1 3 "Acrocallosal syndrome, Schinzel type(US);Acrocallosal syndrome, Schinzel type(B);not specified(LB)" 11/2/2017 -9.3 0.333333333 BLB 3 263341 Simple 140267000 A . CI 1 4 "Cardiovascular phenotype(LB);Thoracic aortic aneurysm and aortic dissection(US);Aortic aneurysm, familial thoracic 4(B);not specified(LB)" 11/21/2017 -12 0.75 BLB 3 263431 Simple 149697299 A . CI 1 12 Cardiovascular phenotype(LB);MASS syndrome(US);Thoracic aortic aneurysm and aortic dissection(US);Geleophysic dysplasia(US);Acromicric dysplasia(US);Ectopia lentis(US);Weill-Marchesani syndrome(US);Stiff skin syndrome(US);Marfan syndrome(US);not specified(LB);Marfan syndrome(LB);Thoracic aortic aneurysm and aortic dissection(LB);not provided(LB) 1/4/2018 -14.4 0.833333333 BLB 3 263476 Simple 572545726 A . CI 1 6 Cardiovascular phenotype(LB);Long QT syndrome(LB);not specified(B);Long QT syndrome(LB);not specified(US);Long QT syndrome 12(LB) 1/30/2018 -17.1 0.833333333 BLB 3 263526 Simple 113577450 A . CI 1 4 "Cardiovascular phenotype(LB);Thoracic aortic aneurysm and aortic dissection(US);not specified(LB);Aortic aneurysm, familial thoracic 4(LB)" 3/13/2018 -9.3 0.25 BLB 3 263614 Simple 200628845 G . CI 1 4 Cardiovascular phenotype(LB);Long QT syndrome(US);Long QT syndrome(LB);not specified(LB) 11/28/2017 -9.3 0.75 BLB 3 263632 Simple 375996640 C . CI 1 10 Cardiovascular phenotype(US);Acromicric dysplasia(LB);Geleophysic dysplasia(LB);Ectopia lentis(LB);Thoracic aortic aneurysm and aortic dissection(LB);MASS syndrome(LB);Stiff skin syndrome(LB);Marfan syndrome(LB);Weill-Marchesani syndrome(LB);not specified(LB) 5/26/2017 -27.18 1.4 B 3 263699 Simple 138621371 A . CI 1 4 Cardiovascular phenotype(LB);not specified(US);not specified(B);Marfan syndrome(B);Thoracic aortic aneurysm and aortic dissection(B) 1/24/2018 -13.77 2 BLB 3 263758 Simple 200410212 T . CI 1 9 "Cardiovascular phenotype(LB);Limb-Girdle Muscular Dystrophy, Recessive(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Hypertrophic cardiomyopathy(US);Distal myopathy Markesbery-Griggs type(US);Hereditary myopathy with early respiratory failure(US);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);not specified(LB)" 12/5/2017 -9.9 1.222222222 BLB 3 263781 Simple 147793030 A . CI 1 3 Cardiovascular phenotype(LB);not specified(US);Alagille syndrome 1(B) 4/14/2017 -9 1.333333333 BLB 3 263900 Simple 149280976 A . CI 1 4 Cardiovascular phenotype(LB);Homocystinuria(US);not specified(LB);Homocystinuria due to CBS deficiency(LB) 3/12/2018 -8.7 1 BLB 3 263905 Simple 1801167 A . CI 1 4 Cardiovascular phenotype(LB);Congenital contractural arachnodactyly(US);Congenital contractural arachnodactyly(B);not specified(B) 8/17/2017 -14.7 1 BLB 3 263911 Simple 140148380 A . CI 1 8 "Cardiovascular phenotype(LB);Thoracic aortic aneurysm and aortic dissection(US);not specified(LB);Aortic aneurysm, familial thoracic 7(B);not specified(B);Familial thoracic aortic aneurysm(LB);not specified(LB);not specified(LB)" 2/1/2018 -27.3 0.5 B 3 263976 Simple 78118111 C . CI 1 3 "Cardiovascular phenotype(LB);Thoracic aortic aneurysm and aortic dissection(US);Aortic aneurysm, familial thoracic 7(B)" 12/6/2017 -8.7 1.333333333 BLB 3 264026 Simple 754765424 C . CI 1 5 Cardiovascular phenotype(US);not specified(LB);not specified(LB);Duchenne muscular dystrophy(B);not specified(LB) 1/8/2018 -14.94 1.2 BLB 3 264051 Simple 775954427 C . CI 1 4 "Cardiovascular phenotype(LB);not specified(US);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);not specified(LB)" 1/25/2018 -8.67 1.25 BLB 3 264069 Simple 796219248 T . CI 1 4 Cardiovascular phenotype(LB);Hypertrophic cardiomyopathy(US);Familial hypertrophic cardiomyopathy 17(LB);Familial hypertrophic cardiomyopathy 17(LB) 11/9/2017 -8.4 1.5 BLB 3 264146 Simple 200800133 T . CI 1 3 Cardiovascular phenotype(LB);not specified(US);Long QT syndrome(B) 11/15/2017 -9 1 BLB 3 264229 Simple 150959827 C . CI 1 3 Cardiovascular phenotype(US);Duchenne muscular dystrophy(B);not specified(LB) 1/2/2018 -9.27 1 BLB 3 264284 Simple 140758113 T . CI 1 4 "Cardiovascular phenotype(LB);Ehlers-Danlos syndrome, hydroxylysine-deficient(US);Ehlers-Danlos syndrome, hydroxylysine-deficient(LB);not specified(LB)" 12/20/2017 -9 0.75 BLB 3 264299 Simple 142604625 A . CI 1 6 "Cardiovascular phenotype(LB);not specified(US);Dilated Cardiomyopathy, Recessive(US);Fukuyama congenital muscular dystrophy(US);not specified(B);Walker-Warburg congenital muscular dystrophy(LB)" 1/3/2018 -12 1.166666667 BLB 3 264300 Simple 151199943 C . CI 1 4 Cardiovascular phenotype(LB);Brugada syndrome(US);not specified(LB);not provided(B) 10/14/2016 -11.4 1.5 BLB 3 264328 Simple 554167951 T . CI 1 4 "Cardiovascular phenotype(LB);Dilated Cardiomyopathy, Dominant(US);not specified(LB);Dilated cardiomyopathy 1DD(LB)" 12/21/2017 -9 0.75 BLB 3 264449 Simple 192335285 T . CI 1 3 Cardiovascular phenotype(US);not specified(LB);Holt-Oram syndrome(B) 12/4/2017 -9 1 BLB 3 264488 Simple 201024064 T . CI 1 4 Cardiovascular phenotype(LB);Long QT syndrome(US);not specified(B);Long QT syndrome(LB) 12/12/2017 -10.8 1.5 BLB 3 264534 Simple 200615848 C . CI 1 3 "Cardiovascular phenotype(LB);not specified(LB);Periventricular nodular heterotopia 1(B);Melnick-Needles syndrome(B);Oto-palato-digital syndrome, type II(B);Frontometaphyseal dysplasia(B)" 7/31/2017 -12 0.666666667 BLB 3 265027 Simple 72547561 T . CI 1 3 not provided(P);Sj??gren-Larsson syndrome(P);Sj??gren-Larsson syndrome(US) 8/30/2017 11.1 1 PLP 3 265136 Simple 139235751 G . CI 1 5 not specified(US);not specified(LB);Fanconi anemia(B);not specified(US);not specified(US) 1/5/2018 -9.9 0.8 BLB 3 265349 Simple 183105855 C . CI 1 3 not provided(P);not specified(P);Galactosylceramide beta-galactosidase deficiency(P) 7/10/2017 18 0.666666667 P 3 265506 Simple 747900252 A . CI 1 10 not provided(P);Myosclerosis(LB);Collagen VI-related myopathy(LB);not provided(LP);not provided(P);Bethlem myopathy 1(LP);Ullrich congenital muscular dystrophy 1(P);Bethlem myopathy 1(P);Collagen VI-related myopathy(P);Muscle weakness(P);Difficulty walking(P);Falls(P);Hip flexor weakness(P);Dysplasia of acetabulum(P) 11/15/2017 35.4 1 P 3 265876 Simple 72653061 C . CI 1 3 Familial hypercholesterolemia(US);not specified(LB);Familial hypercholesterolemia(B) 1/4/2018 -9.27 0.666666667 BLB 3 265880 Simple 76202659 A . CI 1 4 Familial hypercholesterolemia(US);Familial hypercholesterolemia(LB);Familial hypobetalipoproteinemia(LB);not specified(LB) 3/12/2018 -9.27 1 BLB 3 265886 Simple 61741164 C . CI 1 3 "Familial hypercholesterolemia(B);not specified(US);Hypercholesterolemia, autosomal dominant, type B(LB);Hypobetalipoproteinemia, familial, 1(LB)" 9/1/2017 -8.7 0.666666667 BLB 3 265890 Simple 1799812 T . CI 1 5 "Familial hypercholesterolemia(US);not specified(B);Hypercholesterolemia, autosomal dominant, type B(B);Hypobetalipoproteinemia, familial, 1(B);Familial hypercholesterolemia(US);Familial hypercholesterolemia(B)" 1/12/2018 -18.54 1 BLB 3 265893 Simple 12713558 T . CI 1 6 "Familial hypercholesterolemia(US);Familial hypobetalipoproteinemia(LB);Familial hypercholesterolemia(LB);Hypercholesterolemia, autosomal dominant, type B(B);Hypobetalipoproteinemia, familial, 1(B);Familial hypercholesterolemia(B);not specified(B)" 1/26/2018 -24.27 0.666666667 BLB 3 265916 Simple 35574083 GCTGCTGCTGCT . CI 1 5 "Familial hypercholesterolemia(US);Hypercholesterolemia, autosomal dominant, 3(LB);not specified(LB);Familial hypercholesterolemia(LB);not provided(B)" 2/5/2018 -15.27 0.6 BLB 3 265932 Simple 7552471 T . CI 1 6 "Familial hypercholesterolemia(US);Familial hypobetalipoproteinemia(LB);Familial hypercholesterolemia(LB);Hypercholesterolemia, autosomal dominant, 3(B);Familial hypercholesterolemia(B);not specified(B)" 1/23/2018 -24.27 0.666666667 BLB 3 266049 Simple 199827465 T . CI 1 3 Motor neuron disease(LB);not specified(US);not specified(B) 12/13/2016 -8.7 1.333333333 BLB 3 266051 Simple 34324114 C . CI 1 4 "Motor neuron disease(LP);not specified(LB);not specified(B);Short rib-polydactyly syndrome, Majewski type(B)" 4/11/2017 -11.1 1.5 BLB 3 267221 Simple 886040864 T . CI 1 4 "Hereditary breast and ovarian cancer syndrome(LP);Breast-ovarian cancer, familial 1(P);Hereditary breast and ovarian cancer syndrome(LP);Hereditary breast and ovarian cancer syndrome(US)" 1/23/2017 9.3 2.5 PLP 3 267712 Simple 886040949 G . CI 1 5 "Breast-ovarian cancer, familial 2(P);Hereditary breast and ovarian cancer syndrome(US);Hereditary breast and ovarian cancer syndrome(P);Hereditary cancer-predisposing syndrome(LP);Hereditary breast and ovarian cancer syndrome(LP)" 2/22/2017 14.1 2.2 PLP 3 279754 Simple 201479289 A . CI 1 3 "not provided(P);not specified(US);Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency(LP)" 6/27/2017 8.43 1.333333333 PLP 3 279982 Simple 769827124 A . CI 1 3 not provided(P);Progressive sclerosing poliodystrophy(US);Cerebellar ataxia infantile with progressive external ophthalmoplegia(P) 12/18/2017 11.7 0.333333333 PLP 3 280584 Simple 886041761 T . CI 1 2 not provided(P);Inborn genetic diseases(LP) 2/14/2017 8.4 1.5 PLP 3 281057 Simple 17102066 T . CI 1 6 "not specified(B);Congenital Muscular Dystrophy, alpha-dystroglycan related(US);Limb-Girdle Muscular Dystrophy, Recessive(US);not specified(LB);not specified(US);Limb-girdle muscular dystrophy-dystroglycanopathy, type C3(B);Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3(B)" 11/28/2017 -15.27 1 BLB 3 281142 Simple 12713843 T . CI 1 7 "not specified(US);not specified(LB);Hypercholesterolemia, autosomal dominant, type B(B);Hypobetalipoproteinemia, familial, 1(B);Hypercholesterolemia, autosomal dominant, type B(US);Hypobetalipoproteinemia, familial, 1(US);Familial hypercholesterolemia(LB);not specified(LB)" 1/25/2018 -15.57 0.571428571 BLB 3 281243 Simple 114684479 T . CI 1 5 "not specified(LB);not specified(LB);not specified(LB);not specified(US);Lissencephaly 2(LB);Epilepsy, familial temporal lobe, 7(LB)" 11/8/2017 -11.7 0.8 BLB 3 281281 Simple 199509259 T . CI 1 3 "not specified(US);Epidermolysa bullosa simplex and limb girdle muscular dystrophy(B);Epidermolysis bullosa simplex, Ogna type(B);Epidermolysis bullosa simplex with pyloric atresia(B);Limb-girdle muscular dystrophy, type 2Q(B);Epidermolysis bullosa simplex with nail dystrophy(B);not specified(LB)" 12/18/2017 -9.27 0.666666667 BLB 3 281283 Simple 202121299 T . CI 1 4 "not specified(US);not specified(LB);not specified(LB);Limb-girdle muscular dystrophy-dystroglycanopathy, type C1(B);Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1(B);Walker-Warburg congenital muscular dystrophy(B)" 1/19/2018 -11.97 1 BLB 3 281297 Simple 201799566 A . CI 1 5 "not specified(US);Cerebellar ataxia(LB);Emery-Dreifuss muscular dystrophy(LB);not specified(LB);Spinocerebellar ataxia, autosomal recessive 8(LB);Emery-Dreifuss muscular dystrophy 4, autosomal dominant(LB)" 8/10/2017 -12.3 0.8 BLB 3 281375 Simple 146157131 A . CI 1 3 not specified(US);Fanconi anemia(B);not provided(LB) 7/5/2017 -9.27 1 BLB 3 281390 Simple 199695976 A . CI 1 3 not specified(US);not specified(LB);Nemaline myopathy 2(B) 8/2/2017 -8.97 1.333333333 BLB 3 281468 Simple 199921300 G . CI 1 3 not specified(B);Cryptophthalmos syndrome(US);not specified(LB) 1/5/2017 -8.7 1.333333333 BLB 3 281479 Simple 536304635 T . CI 1 6 "not specified(US);Malignant hyperthermia susceptibility(LB);Central core disease(LB);Multiminicore Disease(LB);Neuromuscular disease, congenital, with uniform type 1 fiber(LB);not specified(US)" 6/14/2016 -12.54 1.333333333 BLB 3 281616 Simple 148927511 T . CI 1 3 not specified(US);not specified(LB);not specified(B) 1/22/2018 -9.27 0.666666667 BLB 3 281623 Simple 201599540 A . CI 1 4 not specified(US);Tuberous sclerosis 2(B);Hereditary cancer-predisposing syndrome(LB);not specified(LB) 12/18/2017 -12.27 0.5 BLB 3 281691 Simple 144566713 T . CI 1 6 "not specified(B);Emery-Dreifuss muscular dystrophy(LB);Cerebellar ataxia(LB);not specified(US);not specified(LB);Spinocerebellar ataxia, autosomal recessive 8(B);Emery-Dreifuss muscular dystrophy 4, autosomal dominant(B)" 1/11/2018 -21.3 0.666666667 BLB 3 281692 Simple 147947903 C . CI 1 6 "not specified(B);Emery-Dreifuss muscular dystrophy(LB);Cerebellar ataxia(LB);not specified(US);not specified(LB);Spinocerebellar ataxia, autosomal recessive 8(B);Emery-Dreifuss muscular dystrophy 4, autosomal dominant(B)" 1/11/2018 -21.3 0.666666667 BLB 3 281702 Simple 116514447 A . CI 1 3 not specified(B);Ellis-van Creveld Syndrome(US);not specified(LB) 8/15/2016 -8.7 1.333333333 BLB 3 281703 Simple 73198154 A . CI 1 3 not specified(B);Ellis-van Creveld Syndrome(US);not specified(LB) 8/15/2016 -8.7 1.333333333 BLB 3 281726 Simple 139904931 C . CI 1 3 "not specified(B);Distal spinal muscular atrophy(US);Distal spinal muscular atrophy, autosomal recessive 4(B);Charcot-Marie-Tooth disease, recessive intermediate c(B)" 12/26/2017 -11.7 1 BLB 3 281739 Simple 142244640 C . CI 1 4 "not specified(US);Pigmentary retinal dystrophy(LB);Retinitis Pigmentosa, Recessive(LB);Newfoundland rod-cone dystrophy(LB)" 6/14/2016 -9.27 1.25 BLB 3 281778 Simple 1800219 A . CI 1 6 "not specified(B);Ehlers-Danlos syndrome, type 7A(US);Osteogenesis Imperfecta, Dominant(US);Infantile cortical hyperostosis(US);not specified(B);Osteogenesis imperfecta type I(B)" 9/20/2017 -18.3 1 BLB 3 281798 Simple 34813662 A . CI 1 3 not specified(LB);Gamma-aminobutyric acid transaminase deficiency(US);Gamma-aminobutyric acid transaminase deficiency(B) 11/14/2017 -9 1 BLB 3 282000 Simple 11256354 C . CI 1 3 "not specified(B);Interleukin 2 receptor, alpha, deficiency of(US);Interleukin 2 receptor, alpha, deficiency of(B)" 12/9/2017 -11.7 1 BLB 3 282017 Simple 373434281 G . CI 1 4 not specified(US);Pitt-Hopkins syndrome(LB);not specified(B);Pitt-Hopkins syndrome(LB) 1/8/2018 -11.07 1.5 BLB 3 282033 Simple 141133579 C . CI 1 3 not specified(B);Zellweger syndrome(US);not provided(LB) 5/12/2017 -8.7 1.333333333 BLB 3 282036 Simple 144169073 G . CI 1 4 "not specified(US);not provided(P);not provided(LP);Myasthenic syndrome, congenital, 4a, slow-channel(US)" 11/10/2017 8.43 1 PLP 3 282129 Simple 35686213 A . CI 1 6 "not specified(US);Emery-Dreifuss muscular dystrophy(LB);Cerebellar ataxia(LB);not specified(LB);not specified(LB);Spinocerebellar ataxia, autosomal recessive 8(LB);Emery-Dreifuss muscular dystrophy 4, autosomal dominant(LB)" 10/24/2017 -15 0.833333333 BLB 3 282184 Simple 200710788 A . CI 1 5 not specified(US);Myosclerosis(LB);Collagen VI-related myopathy(LB);not specified(US);Bethlem myopathy 1(LB) 12/12/2017 -9.6 0.8 BLB 3 282364 Simple 78315399 G . CI 1 3 "not specified(B);Primary Microcephaly, Recessive(US);not specified(LB)" 3/18/2017 -8.7 1.333333333 BLB 3 282375 Simple 375004542 C . CI 1 3 "not specified(US);not specified(LB);Mental retardation, CASK-related, X-linked(B)" 7/28/2017 -9.27 1 BLB 3 282403 Simple 139834542 G . CI 1 5 "not specified(US);Emery-Dreifuss muscular dystrophy(LB);Cerebellar ataxia(LB);not specified(LB);Spinocerebellar ataxia, autosomal recessive 8(US);Emery-Dreifuss muscular dystrophy 4, autosomal dominant(US)" 12/26/2017 -9.6 0.6 BLB 3 282500 Simple 762141482 G . CI 1 3 "not specified(US);not specified(B);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB)" 6/9/2017 -8.67 1.333333333 BLB 3 282531 Simple 142388112 T . CI 1 4 "not specified(LB);Emery-Dreifuss muscular dystrophy(LB);Cerebellar ataxia(LB);Spinocerebellar ataxia, autosomal recessive 8(US);Emery-Dreifuss muscular dystrophy 4, autosomal dominant(US)" 10/16/2017 -9.3 0.75 BLB 3 282546 Simple 201025841 A . CI 1 6 "not specified(US);Inclusion Body Myopathy, Recessive(LB);Sialuria(LB);Nonaka myopathy(LB);Inclusion body myopathy 2(US);Sialuria(US);not specified(LB)" 1/2/2018 -12.6 0.833333333 BLB 3 282606 Simple 61757691 C . CI 1 4 "not specified(LB);Amyotrophic Lateral Sclerosis, Recessive(US);ALS2-Related Spectrum Disorders(US);Infantile-onset ascending hereditary spastic paralysis(B)" 11/27/2017 -9.3 1 BLB 3 282646 Simple 528417986 T . CI 1 3 "Limb-girdle muscular dystrophy, type 2A(P);not provided(P);Limb-girdle muscular dystrophy, type 2A(US)" 7/10/2017 11.7 0.666666667 PLP 3 282655 Simple 370375696 A . CI 1 9 "not specified(B);Dilated Cardiomyopathy, Dominant(US);Hereditary myopathy with early respiratory failure(US);Distal myopathy Markesbery-Griggs type(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Hypertrophic cardiomyopathy(US);Myopathy, early-onset, with fatal cardiomyopathy(US);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B)" 7/6/2017 -18.6 1.111111111 BLB 3 282699 Simple 544993852 T . CI 1 4 "not specified(B);Miyoshi myopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Dysferlinopathy(B)" 11/10/2017 -12 1 BLB 3 282719 Simple 187977513 C . CI 1 4 not specified(US);not specified(B);Catecholaminergic polymorphic ventricular tachycardia(LB);Abnormal heart morphology(US);Sinus bradycardia(US);Ventricular hypertrophy(US);Prolonged QTc interval(US);Left ventricular noncompaction cardiomyopathy(US);Abnormality of the trabecular meshwork(US) 12/29/2017 -8.97 1.25 BLB 3 282763 Simple 145255635 A . CI 1 4 not specified(B);Renal dysplasia and retinal aplasia(US);Nephronophthisis(US);Nephronophthisis(B) 12/10/2017 -12 1 BLB 3 282775 Simple 149901087 C . CI 1 5 not specified(LB);Emery-Dreifuss muscular dystrophy(LB);Cerebellar ataxia(LB);not specified(US);not specified(US) 4/28/2017 -9.6 1 BLB 3 282798 Simple 77539990 T . CI 1 3 not specified(B);Mitochondrial complex I deficiency(US);not specified(B) 6/14/2016 -11.1 1.666666667 BLB 3 282832 Simple 189256993 A . CI 1 4 "not specified(US);not specified(LB);not specified(LB);Epidermolysa bullosa simplex and limb girdle muscular dystrophy(LB);Epidermolysis bullosa simplex, Ogna type(LB);Epidermolysis bullosa simplex with pyloric atresia(LB);Limb-girdle muscular dystrophy, type 2Q(LB);Epidermolysis bullosa simplex with nail dystrophy(LB)" 12/4/2017 -9.27 0.75 BLB 3 282888 Simple 148240825 T . CI 1 5 "not specified(US);Emery-Dreifuss muscular dystrophy(LB);Cerebellar ataxia(LB);not specified(LB);Spinocerebellar ataxia, autosomal recessive 8(LB);Emery-Dreifuss muscular dystrophy 4, autosomal dominant(LB)" 10/26/2017 -12.3 0.8 BLB 3 282891 Simple 148183839 G . CI 1 4 not specified(LB);Collagen VI-related myopathy(LB);not provided(US);not specified(LB) 9/7/2017 -9 1 BLB 3 282920 Simple 142421934 T . CI 1 4 not specified(B);Biotinidase deficiency(US);not specified(LB);Biotinidase deficiency(B) 8/1/2017 -14.4 1.25 BLB 3 282926 Simple 143982014 T . CI 1 4 not specified(US);Congenital disorder of glycosylation(US);not specified(B);Congenital disorder of glycosylation type 1B(LB) 12/26/2017 -9.57 0.75 BLB 3 282934 Simple 114015043 T . CI 1 4 not specified(LB);Schwartz Jampel syndrome type 1(US);Dyssegmental Dysplasia(US);not specified(B) 4/10/2017 -9.3 1.25 BLB 3 282949 Simple 201815805 A . CI 1 10 "not specified(US);Charcot-Marie-Tooth, Type 2(LB);Spondylometaphyseal dysplasia(LB);Scapuloperoneal spinal muscular atrophy(LB);Brachyolmia(LB);Distal spinal muscular atrophy, congenital nonprogressive(LB);Metatrophic dysplasia(LB);not specified(LB);Charcot-Marie-Tooth disease type 2C(LB);not specified(B)" 2/7/2018 -30.27 0.9 B 3 282968 Simple 200766991 T . CI 1 4 not specified(B);Familial Mediterranean fever(US);Familial Mediterranean fever(B);not provided(US) 4/17/2017 -12 1.25 BLB 3 283025 Simple 183401234 A . CI 1 3 "not specified(US);not specified(LB);Epidermolysa bullosa simplex and limb girdle muscular dystrophy(B);Epidermolysis bullosa simplex, Ogna type(B);Epidermolysis bullosa simplex with pyloric atresia(B);Limb-girdle muscular dystrophy, type 2Q(B);Epidermolysis bullosa simplex with nail dystrophy(B)" 11/18/2017 -9.27 0.666666667 BLB 3 283030 Simple 147508177 G . CI 1 5 "not specified(US);Cerebellar ataxia(LB);Emery-Dreifuss muscular dystrophy(LB);not specified(LB);Spinocerebellar ataxia, autosomal recessive 8(LB);Emery-Dreifuss muscular dystrophy 4, autosomal dominant(LB)" 10/19/2017 -12.27 0.8 BLB 3 283034 Simple 372840016 A . CI 1 4 "not specified(US);not specified(LB);not specified(LB);Epidermolysa bullosa simplex and limb girdle muscular dystrophy(LB);Epidermolysis bullosa simplex, Ogna type(LB);Epidermolysis bullosa simplex with pyloric atresia(LB);Limb-girdle muscular dystrophy, type 2Q(LB);Epidermolysis bullosa simplex with nail dystrophy(LB)" 9/14/2017 -9.27 1 BLB 3 283043 Simple 200761715 A . CI 1 6 "not specified(B);Beta-sarcoglycanopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);not specified(LB);Limb-girdle muscular dystrophy, type 2E(B);not specified(B)" 12/19/2017 -21 1 BLB 3 283080 Simple 2066520 T . CI 1 3 not specified(LB);Schimke immunoosseous dysplasia(US);Schimke immunoosseous dysplasia(B) 9/25/2017 -9 1 BLB 3 283127 Simple 142352627 T . CI 1 3 "not specified(US);not specified(LB);Ehlers-Danlos syndrome, classic type(B);Osteogenesis imperfecta type I(B)" 8/15/2017 -9.27 0.666666667 BLB 3 283130 Simple 199875457 C . CI 1 5 not specified(US);Pallister-Hall syndrome(LB);Polydactyly(LB);Greig cephalopolysyndactyly syndrome(LB);Greig cephalopolysyndactyly syndrome(LB);Pallister-Hall syndrome(LB) 12/6/2017 -12.27 1 BLB 3 283170 Simple 771623461 C . CI 1 3 not specified(US);not specified(LB);not provided(B) 7/18/2017 -9.27 1 BLB 3 283174 Simple 369033909 T . CI 1 3 "not specified(US);not specified(LB);Episodic ataxia type 2(B);Epileptic encephalopathy, early infantile, 42(B)" 12/4/2017 -9.27 0.666666667 BLB 3 283176 Simple 201200430 A . CI 1 4 "not specified(US);not specified(LB);not specified(B);Episodic ataxia type 2(B);Epileptic encephalopathy, early infantile, 42(B)" 12/4/2017 -15.27 0.75 BLB 3 283209 Simple 186429469 G . CI 1 3 "not specified(LB);Early Infantile Epileptic Encephalopathy, Autosomal Recessive(US);Early infantile epileptic encephalopathy 12(B)" 9/30/2017 -9 1 BLB 3 283235 Simple 138514054 C . CI 1 4 "not specified(US);Emery-Dreifuss muscular dystrophy(LB);not specified(LB);Emery-Dreifuss muscular dystrophy 5, autosomal dominant(LB)" 12/12/2017 -9.27 1 BLB 3 283239 Simple 36020669 A . CI 1 4 not specified(US);Collagen VI-related myopathy(LB);Bethlem myopathy 1(LB);not specified(LB) 11/6/2017 -9.3 0.5 BLB 3 283337 Simple 185022156 A . CI 1 4 "not specified(US);not specified(LB);not specified(LB);Epidermolysa bullosa simplex and limb girdle muscular dystrophy(LB);Epidermolysis bullosa simplex, Ogna type(LB);Epidermolysis bullosa simplex with pyloric atresia(LB);Limb-girdle muscular dystrophy, type 2Q(LB);Epidermolysis bullosa simplex with nail dystrophy(LB)" 10/31/2017 -9.3 0.25 BLB 3 283383 Simple 141176394 A . CI 1 8 "not specified(US);Axenfeld-Rieger Syndrome(LB);Irido-corneo-trabecular dysgenesis(LB);Iridogoniodysgenesis, dominant type(LB);Anterior segment mesenchymal dysgenesis(LB);PITX2-Related Eye Abnormalities(LB);Ring dermoid of cornea(LB);Cataract(LB)" 6/14/2016 -21.27 1.125 BLB 3 283387 Simple 140482171 T . CI 1 5 "not specified(US);Retinitis Pigmentosa, Recessive(LB);Cone-Rod Dystrophy, Recessive(LB);Macular degeneration(LB);Stargardt Disease, Recessive(LB)" 4/30/2017 -12.3 1 BLB 3 283421 Simple 200663056 G . CI 1 4 "not specified(US);Cutis laxa, autosomal dominant(LB);Supravalvar aortic stenosis(LB);not specified(LB)" 12/27/2017 -9.27 1 BLB 3 283439 Simple 141858284 A . CI 1 6 "not specified(LB);Cerebellar ataxia(LB);Emery-Dreifuss muscular dystrophy(LB);not specified(LB);not specified(US);Spinocerebellar ataxia, autosomal recessive 8(LB);Emery-Dreifuss muscular dystrophy 4, autosomal dominant(LB)" 11/10/2017 -15.3 0.666666667 BLB 3 283467 Simple 578191306 T . CI 1 7 "not specified(US);Myofibrillar myopathy 1(LB);Scapuloperoneal weakness(LB);Dilated Cardiomyopathy, Dominant(LB);Myofibrillar Myopathy, Dominant(LB);not specified(LB);Myofibrillar myopathy 1(B);Muscular dystrophy, limb-girdle, type 2r(B)" 1/11/2018 -20.97 1.142857143 BLB 3 283470 Simple 576688705 A . CI 1 4 "not specified(US);not specified(LB);not specified(LB);Epidermolysa bullosa simplex and limb girdle muscular dystrophy(LB);Epidermolysis bullosa simplex, Ogna type(LB);Epidermolysis bullosa simplex with pyloric atresia(LB);Limb-girdle muscular dystrophy, type 2Q(LB);Epidermolysis bullosa simplex with nail dystrophy(LB)" 6/27/2017 -8.97 1.25 BLB 3 283488 Simple 373526624 T . CI 1 9 "not specified(LB);Dilated Cardiomyopathy, Dominant(US);Hypertrophic cardiomyopathy(US);Distal myopathy Markesbery-Griggs type(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Hereditary myopathy with early respiratory failure(US);not specified(B);Cardiovascular phenotype(LB)" 6/2/2017 -13.2 1.111111111 BLB 3 283514 Simple 184723350 T . CI 1 4 "not specified(US);not specified(LB);not specified(B);Episodic ataxia type 2(B);Epileptic encephalopathy, early infantile, 42(B)" 11/6/2017 -15.3 0.25 BLB 3 283522 Simple 113593896 C . CI 1 2 not specified(B);Osteogenesis imperfecta type 8(B) 11/8/2017 -11.4 1 BLB 3 283674 Simple 146424389 T . CI 1 6 "not specified(US);Emery-Dreifuss muscular dystrophy(LB);Cerebellar ataxia(LB);not specified(LB);not specified(LB);Spinocerebellar ataxia, autosomal recessive 8(LB);Emery-Dreifuss muscular dystrophy 4, autosomal dominant(LB)" 8/17/2017 -15.3 0.833333333 BLB 3 283676 Simple 139070088 C . CI 1 4 not specified(US);Emery-Dreifuss muscular dystrophy(LB);Cerebellar ataxia(LB);not specified(LB) 10/31/2017 -9.27 1 BLB 3 283693 Simple 149260051 C . CI 1 5 "not specified(US);Cerebellar ataxia(LB);Emery-Dreifuss muscular dystrophy(LB);not specified(LB);Spinocerebellar ataxia, autosomal recessive 8(B);Emery-Dreifuss muscular dystrophy 4, autosomal dominant(B)" 6/28/2017 -15.3 0.8 BLB 3 283698 Simple 151081036 T . CI 1 5 "not specified(US);Emery-Dreifuss muscular dystrophy(LB);Cerebellar ataxia(LB);Spinocerebellar ataxia, autosomal recessive 8(LB);Emery-Dreifuss muscular dystrophy 4, autosomal dominant(LB);not specified(LB)" 7/31/2017 -12.3 0.6 BLB 3 283754 Simple 185829704 A . CI 1 4 not specified(US);Cerebellar ataxia(LB);Emery-Dreifuss muscular dystrophy(LB);not specified(LB) 3/28/2017 -9.27 1.25 BLB 3 283787 Simple 141439475 A . CI 1 4 not specified(US);not specified(B);Cortical dysplasia-focal epilepsy syndrome(LB);not specified(LB) 11/20/2017 -10.77 1.75 BLB 3 284004 Simple 150583010 T . CI 1 4 "not specified(B);Congenital Muscular Dystrophy, ITGA7-related(US);not specified(LB);Muscular dystrophy, congenital, due to integrin alpha-7 deficiency(B)" 11/28/2017 -14.7 1 BLB 3 284072 Simple 115784602 A . CI 1 5 not specified(LB);Succinate-semialdehyde dehydrogenase deficiency(US);not provided(US);not specified(US);Succinate-semialdehyde dehydrogenase deficiency(B) 12/12/2017 -9.6 0.8 BLB 3 284084 Simple 149248727 T . CI 1 4 not specified(US);Pallister-Hall syndrome(LB);Polydactyly(LB);Greig cephalopolysyndactyly syndrome(LB) 6/14/2016 -9.27 1.25 BLB 3 284098 Simple 202200861 G . CI 1 3 "not specified(US);not specified(B);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB)" 11/1/2017 -8.67 1.333333333 BLB 3 284137 Simple 148008634 T . CI 1 4 not specified(US);Emery-Dreifuss muscular dystrophy(LB);Cerebellar ataxia(LB);not specified(LB) 11/27/2017 -9.3 0.75 BLB 3 284179 Simple 45586138 A . CI 1 3 not specified(B);Generalized epilepsy and paroxysmal dyskinesia(US);Generalized epilepsy and paroxysmal dyskinesia(B) 1/11/2018 -11.7 1 BLB 3 284180 Simple 138313759 C . CI 1 4 "not specified(B);Temporal epilepsy, familial(US);not specified(B);Febrile seizures, familial, 11(B)" 12/24/2017 -17.7 0.75 BLB 3 284209 Simple 201912204 A . CI 1 5 not specified(US);Thoracic aortic aneurysm and aortic dissection(US);Loeys-Dietz syndrome(US);not specified(B);Thoracic aortic aneurysm and aortic dissection(LB) 6/27/2017 -9.27 1.2 BLB 3 284280 Simple 150304757 T . CI 1 5 "not specified(B);Cerebellar ataxia(LB);Emery-Dreifuss muscular dystrophy(LB);not specified(LB);Spinocerebellar ataxia, autosomal recessive 8(B);Emery-Dreifuss muscular dystrophy 4, autosomal dominant(B)" 10/24/2017 -20.4 0.8 BLB 3 284296 Simple 141352486 G . CI 1 3 not specified(US);not specified(LB);Bardet-Biedl syndrome(B) 7/27/2017 -9.3 0.666666667 BLB 3 284376 Simple 34351171 G . CI 1 3 not specified(B);not specified(US);not specified(LB) 1/30/2018 -8.7 1 BLB 3 284439 Simple 140916001 G . CI 1 4 not specified(B);Andermann syndrome(US);not provided(LB);not specified(B) 9/29/2016 -14.4 1.5 BLB 3 284451 Simple 35638832 C . CI 1 5 "not specified(US);Inclusion Body Myopathy, Recessive(LB);Nonaka myopathy(LB);Sialuria(LB);Inclusion body myopathy 2(US);Sialuria(US)" 2/28/2017 -9.6 1 BLB 3 284467 Simple 374790646 A . CI 1 3 "not specified(US);not specified(LB);Epidermolysa bullosa simplex and limb girdle muscular dystrophy(B);Epidermolysis bullosa simplex, Ogna type(B);Epidermolysis bullosa simplex with pyloric atresia(B);Limb-girdle muscular dystrophy, type 2Q(B);Epidermolysis bullosa simplex with nail dystrophy(B)" 9/18/2017 -9.3 0.666666667 BLB 3 284511 Simple 148697028 T . CI 1 4 "not specified(LB);Miyoshi myopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Dysferlinopathy(B)" 11/8/2017 -9.3 1 BLB 3 284525 Simple 148043302 G . CI 1 4 not specified(US);Polydactyly(LB);Greig cephalopolysyndactyly syndrome(LB);Pallister-Hall syndrome(LB) 6/14/2016 -9.27 1.25 BLB 3 284530 Simple 41311989 T . CI 1 4 not specified(B);Schwartz Jampel syndrome type 1(US);Dyssegmental Dysplasia(US);not specified(LB) 11/4/2016 -9 1.25 BLB 3 284555 Simple 75581470 A . CI 1 5 not specified(LB);Myosclerosis(LB);Collagen VI-related myopathy(LB);not specified(US);Bethlem myopathy 1(LB) 1/4/2018 -12 1 BLB 3 284594 Simple 187029707 T . CI 1 3 not specified(B);Primary Microcephaly 2 With or Without Cortical Malformations(US);not specified(B) 6/14/2016 -11.1 1.666666667 BLB 3 284601 Simple 139480065 T . CI 1 4 not specified(US);Emery-Dreifuss muscular dystrophy(LB);Cerebellar ataxia(LB);not specified(LB) 11/21/2017 -9.27 1 BLB 3 284648 Simple 201656051 A . CI 1 3 "not specified(B);Distal spinal muscular atrophy(US);Distal spinal muscular atrophy, autosomal recessive 4(B);Charcot-Marie-Tooth disease, recessive intermediate c(B)" 5/1/2017 -11.7 1.333333333 BLB 3 284681 Simple 144105769 G . CI 1 6 "not specified(US);Emery-Dreifuss muscular dystrophy(LB);Cerebellar ataxia(LB);not specified(LB);not specified(LB);Spinocerebellar ataxia, autosomal recessive 8(LB);Emery-Dreifuss muscular dystrophy 4, autosomal dominant(LB)" 11/6/2017 -15.3 0.833333333 BLB 3 284712 Simple 771392678 T . CI 1 3 not specified(US);Duchenne muscular dystrophy(B);not specified(LB) 2/9/2018 -9.27 0.666666667 BLB 3 284732 Simple 141151675 T . CI 1 3 not specified(US);not specified(LB);Duchenne muscular dystrophy(B) 8/29/2017 -9.27 0.666666667 BLB 3 284750 Simple 202065765 A . CI 1 4 "not specified(US);Marshall syndrome(LB);Stickler Syndrome, Dominant(LB);Fibrochondrogenesis(LB)" 6/14/2016 -9.27 1.25 BLB 3 284760 Simple 201272488 G . CI 1 4 "not specified(US);Charcot-Marie-Tooth, Intermediate(LB);not specified(LB);Charcot-Marie-Tooth disease, dominant intermediate C(LB)" 9/22/2017 -9.27 0.75 BLB 3 284815 Simple 148249892 A . CI 1 4 not specified(US);Myosclerosis(LB);Collagen VI-related myopathy(LB);Bethlem myopathy 1(LB) 5/1/2017 -9.3 1 BLB 3 284816 Simple 114986640 C . CI 1 6 "not specified(LB);Miyoshi myopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);not specified(LB);not specified(US);Dysferlinopathy(LB)" 4/5/2017 -9.9 1 BLB 3 284852 Simple 144730069 A . CI 1 4 not specified(LB);Ellis-van Creveld Syndrome(US);not specified(LB);Chondroectodermal dysplasia(B);Curry-Hall syndrome(B) 8/22/2017 -12 0.75 BLB 3 284855 Simple 188321058 T . CI 1 3 not specified(LB);Jeune thoracic dystrophy(US);Jeune thoracic dystrophy(B) 11/18/2017 -9 1 BLB 3 284895 Simple 61731477 T . CI 1 5 "not specified(B);not specified(US);Epileptic encephalopathy, early infantile, 1(LB);Deafness, autosomal dominant 65(LB);Caused by mutation in the TBC1 domain family, member 24(LB);not specified(US);not specified(B)" 12/26/2017 -14.4 1.2 BLB 3 284911 Simple 149119710 T . CI 1 4 "not specified(LB);Osteogenesis Imperfecta, Recessive(US);Osteogenesis imperfecta type 7(B);not specified(LB)" 12/30/2017 -12 0.75 BLB 3 284947 Simple 112516305 A . CI 1 5 not specified(US);not specified(LB);Duchenne muscular dystrophy(B);not specified(LB);Cardiovascular phenotype(LB) 11/7/2016 -14.97 1.4 BLB 3 284990 Simple 72466494 T . CI 1 4 not specified(B);Distal hereditary motor neuronopathy(LB);Perry syndrome(LB);Amyotrophic lateral sclerosis type 1(B);Perry syndrome(B);Distal hereditary motor neuronopathy type 7B(B) 1/2/2018 -17.4 1 BLB 3 285038 Simple 145896974 T . CI 1 4 "not specified(B);Cone-Rod Dystrophy, Recessive(US);Leber congenital amaurosis(US);Cone-rod dystrophy 13(B);Leber congenital amaurosis 6(B)" 8/24/2017 -12 1 BLB 3 285055 Simple 146869947 A . CI 1 4 "not specified(B);Limb-Girdle Muscular Dystrophy, Recessive(US);not specified(LB);Limb-girdle muscular dystrophy-dystroglycanopathy, type C1(B);Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1(B);Walker-Warburg congenital muscular dystrophy(B)" 1/16/2017 -14.7 1.25 BLB 3 285057 Simple 137919524 T . CI 1 6 "not specified(US);Cerebellar ataxia(LB);Emery-Dreifuss muscular dystrophy(LB);not specified(LB);not specified(LB);Spinocerebellar ataxia, autosomal recessive 8(B);Emery-Dreifuss muscular dystrophy 4, autosomal dominant(B)" 2/16/2018 -18.3 0.833333333 BLB 3 285109 Simple 557830930 G . CI 1 4 not specified(US);Curry-Hall syndrome(LB);Ellis-van Creveld Syndrome(LB);Chondroectodermal dysplasia(LB);Curry-Hall syndrome(LB) 8/2/2017 -9.27 1 BLB 3 285219 Simple 192176661 T . CI 1 4 not specified(B);Dilated cardiomyopathy 3B(US);Duchenne muscular dystrophy(B);not specified(B) 4/17/2017 -17.7 1.25 BLB 3 285274 Simple 11765434 C . CI 1 3 not specified(B);Joubert syndrome(US);Joubert syndrome 15(B) 12/19/2017 -11.7 1 BLB 3 285366 Simple 148578399 A . CI 1 4 "not specified(US);Glycogen storage disease, type II(US);not specified(LB);Glycogen storage disease, type II(B)" 1/19/2018 -9.57 0.75 BLB 3 285485 Simple 144424662 C . CI 1 4 not specified(US);not specified(B);Early infantile epileptic encephalopathy(B);not specified(LB) 7/19/2017 -14.37 1.5 BLB 3 285635 Simple 144376043 T . CI 1 5 "not specified(US);Emery-Dreifuss muscular dystrophy(LB);Cerebellar ataxia(LB);not specified(LB);Spinocerebellar ataxia, autosomal recessive 8(LB);Emery-Dreifuss muscular dystrophy 4, autosomal dominant(LB)" 8/17/2017 -12.3 0.6 BLB 3 285676 Simple 201183207 A . CI 1 4 "not specified(LB);Glycogen storage disease, type II(US);not specified(LB);Glycogen storage disease, type II(B)" 12/22/2017 -12 0.75 BLB 3 285688 Simple 149272010 A . CI 1 5 "not specified(US);Cerebellar ataxia(LB);Emery-Dreifuss muscular dystrophy(LB);not specified(US);Spinocerebellar ataxia, autosomal recessive 8(B);Emery-Dreifuss muscular dystrophy 4, autosomal dominant(B)" 9/26/2017 -12.6 0.6 BLB 3 285696 Simple 146546544 A . CI 1 5 not specified(LB);Collagen VI-related myopathy(LB);Congenital contracture(US);Bethlem myopathy 1(B);not specified(LB) 12/27/2017 -14.94 1.2 BLB 3 285815 Simple 199762799 T . CI 1 4 not specified(US);Emery-Dreifuss muscular dystrophy(LB);Cerebellar ataxia(LB);not specified(LB) 2/28/2018 -9.27 1 BLB 3 285883 Simple 116587608 A . CI 1 3 not specified(US);not specified(LB);Wilson disease(B) 1/8/2018 -9.27 0.666666667 BLB 3 285912 Simple 542134887 - . CI 1 4 "not specified(LB);Ehlers-Danlos syndrome, type 7A(LB);not specified(LB);Ehlers-Danlos syndrome, classic type(US)" 4/20/2017 -9 1.25 BLB 3 285987 Simple 117345850 A . CI 1 4 not specified(US);Collagen VI-related myopathy(LB);not specified(LB);Bethlem myopathy 1(B) 1/24/2017 -12.27 1.25 BLB 3 286016 Simple 150427959 A . CI 1 3 "not specified(US);Epidermolysa bullosa simplex and limb girdle muscular dystrophy(B);Epidermolysis bullosa simplex, Ogna type(B);Epidermolysis bullosa simplex with pyloric atresia(B);Limb-girdle muscular dystrophy, type 2Q(B);Epidermolysis bullosa simplex with nail dystrophy(B);not specified(LB)" 12/28/2017 -9.3 0.666666667 BLB 3 286037 Simple 372799330 T . CI 1 3 "not specified(US);Epidermolysa bullosa simplex and limb girdle muscular dystrophy(B);Epidermolysis bullosa simplex, Ogna type(B);Epidermolysis bullosa simplex with pyloric atresia(B);Limb-girdle muscular dystrophy, type 2Q(B);Epidermolysis bullosa simplex with nail dystrophy(B);not specified(LB)" 6/6/2017 -9.27 1 BLB 3 286046 Simple 140929054 T . CI 1 5 not specified(US);Myosclerosis(LB);Collagen VI-related myopathy(LB);not specified(LB);Bethlem myopathy 1(B) 2/7/2017 -15.27 1.2 BLB 3 286073 Simple 200312379 T . CI 1 3 "not specified(LB);Congenital Myasthenic Syndrome, Recessive(US);Pena-Shokeir syndrome type I(B);Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency(B)" 12/6/2017 -9 1 BLB 3 286194 Simple 140678912 G . CI 1 3 not specified(US);not specified(LB);not specified(B) 6/26/2017 -9.3 0.666666667 BLB 3 286251 Simple 142327194 C . CI 1 4 not specified(US);Emery-Dreifuss muscular dystrophy(LB);Cerebellar ataxia(LB);not specified(LB) 11/15/2016 -9.27 1.25 BLB 3 286256 Simple 187410988 C . CI 1 4 "not specified(US);Emery-Dreifuss muscular dystrophy(LB);Cerebellar ataxia(LB);Spinocerebellar ataxia, autosomal recessive 8(LB);Emery-Dreifuss muscular dystrophy 4, autosomal dominant(LB)" 12/1/2017 -9.27 1 BLB 3 286328 Simple 545666726 GG . CI 1 6 not specified(B);Hyperparathyroidism 2(US);Isolated Hyperparathyroidism(US);Parathyroid carcinoma(US);not specified(LB);not provided(B) 9/6/2016 -14.7 1.333333333 BLB 3 286384 Simple 139206060 A . CI 1 3 not specified(US);Chromosome 9q deletion syndrome(LB);Chromosome 9q deletion syndrome(B) 5/16/2017 -9.27 1.333333333 BLB 3 286450 Simple 375014127 T . CI 1 4 not specified(US);Myopathy(LP);not provided(LP);Elevated serum creatine phosphokinase(P);Distal muscle weakness(P);Fatty replacement of skeletal muscle(P) 2/2/2017 10.8 1.75 PLP 3 286518 Simple 199653503 A . CI 1 4 "not specified(US);not specified(LB);Hereditary sensory and autonomic neuropathy type IIA(B);Generalized epilepsy with febrile seizures plus, type 7(B);not specified(LB)" 8/28/2017 -12.27 0.75 BLB 3 286612 Simple 148453034 A . CI 1 4 not specified(US);not specified(B);Brugada syndrome 8(B);Cardiovascular phenotype(LB) 9/11/2017 -14.07 1.5 BLB 3 286685 Simple 72647541 A . CI 1 4 "not specified(US);Pseudohypoaldosteronism, Type I, Recessive(LB);Pseudoprimary hyperaldosteronism(LB);not specified(LB)" 7/28/2016 -9.27 1.25 BLB 3 286710 Simple 886043455 A . CI 1 3 "not specified(US);not provided(LP);Early infantile epileptic encephalopathy 14(P);Epilepsy, nocturnal frontal lobe, 5(P)" 10/31/2017 8.43 1.333333333 PLP 3 286712 Simple 77853132 C . CI 1 5 not specified(LB);Emery-Dreifuss muscular dystrophy(LB);Cerebellar ataxia(LB);not specified(US);not specified(LB) 10/5/2017 -12.3 0.8 BLB 3 286822 Simple 150098077 T . CI 1 5 not specified(US);Collagen VI-related myopathy(LB);Myosclerosis(LB);not specified(US);Bethlem myopathy 1(LB) 10/30/2017 -9.57 1 BLB 3 286884 Simple 201619500 T . CI 1 7 not specified(LB);Meckel-Gruber syndrome(US);Bardet-Biedl syndrome(US);not specified(LB);not specified(US);not provided(LB);Joubert syndrome(B);Meckel-Gruber syndrome(B) 11/3/2017 -15.6 0.857142857 BLB 3 287025 Simple 139365076 G . CI 1 3 not specified(US);not specified(LB);Duchenne muscular dystrophy(B) 10/24/2017 -8.97 1.333333333 BLB 3 287090 Simple 144177566 A . CI 1 4 not specified(LB);not provided(LB);not specified(US);Succinate-semialdehyde dehydrogenase deficiency(B) 12/10/2017 -12 0.75 BLB 3 287104 Simple 138203039 T . CI 1 4 not specified(LB);Glycogen storage disease type III(US);Glycogen storage disease type III(B);not specified(LB) 9/8/2017 -12 0.75 BLB 3 287116 Simple 143518519 A . CI 1 3 not specified(US);not specified(B);Progressive myoclonic epilepsy(LB) 8/24/2017 -8.67 1.333333333 BLB 3 287150 Simple 116355217 C . CI 1 3 "not specified(LB);not specified(US);Common variable immunodeficiency 8, with autoimmunity(B)" 1/5/2018 -9 1 BLB 3 287155 Simple 148291843 G . CI 1 3 "not specified(B);not provided(LB);Spondylocheirodysplasia, Ehlers-Danlos syndrome-like(LB)" 12/27/2017 -11.4 0.666666667 BLB 3 287210 Simple 35079638 A . CI 1 5 "not specified(LB);Spinocerebellar Ataxia, Dominant(US);Intellectual Disability, Dominant(US);Charcot-Marie-Tooth, Type 2(US);Charcot-Marie-Tooth disease, axonal, type 2O(B)" 11/22/2017 -9.6 1 BLB 3 287215 Simple 184018403 G . CI 1 4 "not specified(US);not specified(B);not specified(B);Myofibrillar myopathy, filamin C-related(LB);Myopathy, distal, 4(LB);Cardiomyopathy, familial hypertrophic, 26(LB);Dilated Cardiomyopathy, Dominant(LB)" 1/2/2018 -15.27 0.75 BLB 3 287219 Simple 55698015 A . CI 1 5 not specified(US);Macular degeneration(LB);Cerebrooculofacioskeletal Syndrome(LB);Cockayne syndrome(LB);not specified(US) 6/13/2017 -9.57 1 BLB 3 287306 Simple 112507765 T . CI 1 4 "not specified(B);Charcot-Marie-Tooth, Type 4(US);Mononeuropathy of the Median Nerve(US);Charcot-Marie-Tooth disease, type IV(LB)" 9/26/2017 -9 1 BLB 3 287318 Simple 181679318 C . CI 1 5 not specified(LB);Arthrogryposis multiplex congenita distal(US);Arthrogryposis multiplex congenita(US);not specified(LB);not specified(LB) 1/19/2017 -9.3 1.2 BLB 3 287352 Simple 146063718 G . CI 1 3 "not specified(US);Myofibrillar myopathy, filamin C-related(B);Myopathy, distal, 4(B);Cardiomyopathy, familial hypertrophic, 26(B);Dilated Cardiomyopathy, Dominant(B);not specified(LB)" 12/29/2017 -9.27 0.666666667 BLB 3 287379 Simple 145709687 A . CI 1 3 "not specified(LB);not specified(US);Common variable immunodeficiency 8, with autoimmunity(B)" 12/24/2017 -9.3 0.666666667 BLB 3 287402 Simple 115806540 A . CI 1 4 "not specified(B);not specified(LB);not specified(US);Lissencephaly 2(B);Epilepsy, familial temporal lobe, 7(B)" 10/17/2017 -14.7 1 BLB 3 287435 Simple 143316414 G . CI 1 3 "not specified(B);Nonsyndromic Hearing Loss, Recessive(US);not specified(B)" 6/14/2016 -8.7 3 BLB 3 287443 Simple 61735833 T . CI 1 3 not specified(US);Bethlem myopathy 1(B);not specified(LB) 9/6/2017 -9.27 0.666666667 BLB 3 287539 Simple 142228240 C . CI 1 6 "not specified(US);Nonsyndromic Hearing Loss, Mixed(US);Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome(US);Pendred's syndrome(US);not specified(B);not specified(LB)" 12/18/2016 -9 1.333333333 BLB 3 287562 Simple 374307014 T . CI 1 4 "not specified(US);not specified(LB);not specified(B);Episodic ataxia type 2(LB);Epileptic encephalopathy, early infantile, 42(LB)" 6/20/2017 -12.3 0.75 BLB 3 287588 Simple 143691289 G . CI 1 3 not specified(B);Fucosidosis(US);Fucosidosis(LB) 12/4/2017 -8.7 1 BLB 3 287619 Simple 3731753 A . CI 1 10 "not specified(B);Dilated Cardiomyopathy, Dominant(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);Distal myopathy Markesbery-Griggs type(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Hypertrophic cardiomyopathy(US);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);Cardiovascular phenotype(B)" 12/27/2017 -25.2 1 BLB 3 287675 Simple 199867946 G . CI 1 4 not specified(US);Hereditary sensory and autonomic neuropathy type IC(LB);not specified(LB);Hereditary sensory and autonomic neuropathy type IC(LB) 12/13/2017 -9.27 1 BLB 3 287823 Simple 71329437 GGCGGC . CI 1 4 not specified(LB);Congenital cerebellar hypoplasia(US);Congenital cerebellar hypoplasia(B);not specified(US) 6/14/2016 -9.27 1.5 BLB 3 287865 Simple 139001173 A . CI 1 4 not specified(LB);Schwartz Jampel syndrome type 1(US);Dyssegmental Dysplasia(US);not specified(B) 1/20/2017 -9.3 1.25 BLB 3 288048 Simple 141542834 T . CI 1 3 "not specified(B);Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia(US);Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia(LB)" 6/28/2017 -9.3 0.666666667 BLB 3 288081 Simple 143749884 A . CI 1 4 not specified(US);Myosclerosis(LB);Collagen VI-related myopathy(LB);Bethlem myopathy 1(B) 10/26/2017 -12.27 1 BLB 3 288181 Simple 140149764 A . CI 1 3 "not specified(US);Myopathy with postural muscle atrophy, X-linked(B);not specified(LB)" 2/7/2018 -9.27 0.666666667 BLB 3 288192 Simple 148777544 T . CI 1 4 not specified(B);Cohen syndrome(US);not specified(US);Cohen syndrome(LB) 11/1/2017 -9.57 1 BLB 3 288253 Simple 61742258 T . CI 1 3 "not specified(B);Morquio syndrome(US);Mucopolysaccharidosis, MPS-IV-A(B)" 9/1/2017 -11.7 1 BLB 3 288268 Simple 752453368 C . CI 1 3 "not specified(US);Early infantile epileptic encephalopathy 14(B);Epilepsy, nocturnal frontal lobe, 5(B);not specified(LB)" 10/25/2017 -9.3 0.333333333 BLB 3 288302 Simple 142422990 T . CI 1 5 not specified(LB);Cerebellar ataxia(LB);Emery-Dreifuss muscular dystrophy(LB);not specified(LB);not specified(US) 10/21/2016 -12.3 1 BLB 3 288456 Simple 141620200 A . CI 1 3 not specified(B);not specified(US);Alpha-1-antitrypsin deficiency(LB) 12/12/2017 -9.3 0.666666667 BLB 3 288516 Simple 140441798 G . CI 1 4 not specified(US);Collagen VI-related myopathy(LB);not specified(LB);Bethlem myopathy 1(LB) 9/12/2017 -9.3 0.5 BLB 3 288636 Simple 199779021 T . CI 1 4 not specified(US);Cerebellar ataxia(LB);Emery-Dreifuss muscular dystrophy(LB);not specified(LB) 12/5/2017 -9.3 0.75 BLB 3 288752 Simple 200363918 A . CI 1 4 not specified(US);not specified(LB);not specified(LB);not specified(LB) 12/18/2017 -9 1 BLB 3 288817 Simple 183141256 A . CI 1 3 "not specified(LB);Congenital Muscular Dystrophy, alpha-dystroglycan related(US);Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7(B);Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7(B)" 1/2/2018 -9.3 0.666666667 BLB 3 288920 Simple 61747283 A . CI 1 3 "not specified(B);Nonsyndromic Hearing Loss, Recessive(US);not specified(LB)" 10/19/2017 -9.3 0.666666667 BLB 3 288967 Simple 61760166 C . CI 1 5 not specified(US);Macular degeneration(LB);Cerebrooculofacioskeletal Syndrome(LB);Cockayne syndrome(LB);not specified(US) 5/31/2017 -9.6 1 BLB 3 289068 Simple 147114700 A . CI 1 4 not specified(LB);Dyssegmental Dysplasia(US);Schwartz Jampel syndrome type 1(US);not specified(B) 7/20/2016 -9 1.25 BLB 3 289071 Simple 148226583 T . CI 1 5 not specified(US);Greig cephalopolysyndactyly syndrome(LB);Pallister-Hall syndrome(LB);Polydactyly(LB);Greig cephalopolysyndactyly syndrome(LB);Pallister-Hall syndrome(LB) 9/5/2017 -12.3 0.8 BLB 3 289185 Simple 202063628 A . CI 1 4 not specified(US);Isolated Nonsyndromic Congenital Heart Disease(LB);Arteriohepatic dysplasia(LB);not specified(LB) 2/1/2018 -9.3 0.75 BLB 3 289382 Simple 79392371 C . CI 1 3 "not specified(US);not specified(LB);Common variable immunodeficiency 8, with autoimmunity(B)" 12/22/2017 -9.3 0.666666667 BLB 3 289403 Simple 145343957 A . CI 1 3 "not specified(B);not specified(US);Polycystic kidney disease, autosomal dominant(B)" 10/12/2017 -12.3 0.666666667 BLB 3 289453 Simple 143981992 G . CI 1 4 "not specified(B);Spastic Paraplegia, Recessive(US);not specified(B);Spastic paraplegia(B)" 11/1/2017 -18.3 0.75 BLB 3 289458 Simple 139372534 A . CI 1 4 "Spastic paraplegia 6(US);Spastic Paraplegia, Dominant(LB);Spastic paraplegia 6(B);not specified(LB)" 2/13/2017 -11.7 1.25 BLB 3 289491 Simple 114610092 T . CI 1 3 "not specified(LB);not specified(US);Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative(B)" 12/4/2017 -9.3 0.666666667 BLB 3 289536 Simple 200648035 G . CI 1 4 not specified(B);Isolated Nonsyndromic Congenital Heart Disease(US);Arteriohepatic dysplasia(US);Alagille syndrome 1(LB) 5/10/2017 -9.6 1 BLB 3 289555 Simple 116174472 A . CI 1 5 not specified(LB);Nephronophthisis(US);Renal-hepatic-pancreatic dysplasia(US);Meckel-Gruber syndrome(US);Nephronophthisis(B) 12/11/2017 -9.9 0.8 BLB 3 289603 Simple 45617636 A . CI 1 6 not specified(LB);Generalized epilepsy and paroxysmal dyskinesia(US);not specified(B);Generalized epilepsy and paroxysmal dyskinesia(B);Generalized epilepsy and paroxysmal dyskinesia(LB);Generalized epilepsy and paroxysmal dyskinesia(LB) 8/2/2017 -21.3 0.833333333 BLB 3 289607 Simple 370196495 T . CI 1 3 "not specified(US);not specified(LB);Periventricular nodular heterotopia 1(B);Melnick-Needles syndrome(B);Oto-palato-digital syndrome, type II(B);Frontometaphyseal dysplasia(B)" 12/19/2017 -9.3 0.333333333 BLB 3 289637 Simple 376218204 A . CI 1 6 "not specified(US);Emery-Dreifuss muscular dystrophy(LB);Cerebellar ataxia(LB);not specified(US);Spinocerebellar ataxia, autosomal recessive 8(LB);Emery-Dreifuss muscular dystrophy 4, autosomal dominant(LB);not specified(LB)" 6/14/2017 -12.6 0.833333333 BLB 3 289661 Simple 143651470 T . CI 1 5 "not specified(US);Marshall syndrome(LB);Fibrochondrogenesis(LB);Stickler Syndrome, Dominant(LB);not specified(LB)" 1/30/2018 -12.3 0.8 BLB 3 289673 Simple 150811468 A . CI 1 4 not specified(US);Emery-Dreifuss muscular dystrophy(LB);Cerebellar ataxia(LB);not specified(LB) 9/26/2017 -9.3 0.75 BLB 3 289720 Simple 202133782 A . CI 1 4 not specified(US);not specified(LB);Adams-Oliver syndrome 5(B);Cardiovascular phenotype(LB) 11/27/2017 -12.3 0.75 BLB 3 289744 Simple 151331381 C . CI 1 4 "not specified(US);Pseudohypoaldosteronism, type 2(LB);Hereditary sensory and autonomic neuropathy type II(LB);Hereditary sensory and autonomic neuropathy type IIA(LB);Pseudohypoaldosteronism type 2C(LB)" 12/21/2017 -9.3 0.75 BLB 3 289745 Simple 72648621 T . CI 1 4 "Hereditary sensory and autonomic neuropathy type IIA(US);Hereditary sensory and autonomic neuropathy type II(LB);Pseudohypoaldosteronism, type 2(LB);Hereditary sensory and autonomic neuropathy type IIA(LB);Pseudohypoaldosteronism type 2C(LB)" 12/21/2017 -9.3 0.75 BLB 3 289756 Simple 143034104 T . CI 1 5 "not specified(LB);Emery-Dreifuss muscular dystrophy(LB);Cerebellar ataxia(LB);not specified(LB);Spinocerebellar ataxia, autosomal recessive 8(US);Emery-Dreifuss muscular dystrophy 4, autosomal dominant(US)" 12/27/2017 -12.3 0.4 BLB 3 289926 Simple 76414035 A . CI 1 3 not specified(US);Arthrogryposis multiplex congenita distal type 1(B);not specified(LB) 2/15/2018 -9.3 0.333333333 BLB 3 289997 Simple 144436610 G . CI 1 4 "not specified(US);Leber congenital amaurosis(LB);Pigmented paravenous chorioretinal atrophy(LB);Retinitis Pigmentosa, Recessive(LB)" 10/31/2017 -9.3 1 BLB 3 290046 Simple 201218801 T . CI 1 5 Joubert syndrome 5(LP);not specified(US);Leber congenital amaurosis 10(LP);Meckel syndrome type 4(LP);Senior-Loken syndrome 6(LP) 6/28/2017 11.4 1 PLP 3 290049 Simple 143477661 G . CI 1 8 "not specified(US);Anophthalmia(LB);Irido-corneo-trabecular dysgenesis(LB);Keratitis, hereditary(LB);Foveal hypoplasia and presenile cataract syndrome(LB);Aniridia, Cerebellar Ataxia, And Intellectual Disability(LB);Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome(LB);Congenital aniridia(LB)" 9/15/2016 -21.3 1 BLB 3 290063 Simple 202132383 T . CI 1 4 "not specified(US);MYH9-related disorder(LB);Nonsyndromic Hearing Loss, Dominant(LB);not specified(LB)" 5/1/2017 -9.3 1 BLB 3 290411 Simple 150727562 A . CI 1 4 "not specified(US);not specified(LB);Epilepsy, childhood absence 2(LB);Familial febrile seizures 8(LB);not specified(LB)" 5/4/2017 -9.3 1 BLB 3 290414 Simple 138363524 C . CI 1 5 "not specified(US);Thiamine Metabolism Dysfunction Syndrome(US);not specified(LB);not specified(LB);Basal ganglia disease, biotin-responsive(LB)" 1/5/2018 -9.6 0.4 BLB 3 290493 Simple 369552432 - . CI 1 4 not specified(B);Congenital cerebellar hypoplasia(B);Congenital cerebellar hypoplasia(US);not specified(B) 3/18/2018 -18.3 0.75 BLB 3 290551 Simple 150905950 T . CI 1 4 "not specified(US);Emery-Dreifuss muscular dystrophy(LB);Cerebellar ataxia(LB);Spinocerebellar ataxia, autosomal recessive 8(LB);Emery-Dreifuss muscular dystrophy 4, autosomal dominant(LB)" 12/4/2017 -9.3 0.75 BLB 3 290788 Simple 201653177 T . CI 1 5 not specified(LB);Hypogonadism with anosmia(US);CHARGE association(US);not specified(LB);CHARGE association(B) 11/18/2017 -12.6 0.8 BLB 3 290925 Simple 180719577 A . CI 1 3 not specified(US);not specified(LB);Duchenne muscular dystrophy(B) 11/29/2017 -9.3 0.666666667 BLB 3 290989 Simple 61737042 A . CI 1 3 not specified(US);not specified(LB);Autosomal dominant nocturnal frontal lobe epilepsy(B) 2/20/2018 -9.3 0.333333333 BLB 3 290991 Simple 189308547 T . CI 1 3 not specified(US);Neuronal ceroid lipofuscinosis(B);not specified(LB) 10/11/2017 -9.3 0.333333333 BLB 3 291084 Simple 137883250 T . CI 1 3 not specified(LB);not specified(LB);not specified(B) 8/11/2017 -12 0.333333333 BLB 3 291185 Simple 200682458 A . CI 1 10 "not specified(US);Familial Febrile Seizures(US);Generalized epilepsy with febrile seizures plus(US);Severe myoclonic epilepsy in infancy(US);Inherited Erythromelalgia(US);Small fiber neuropathy(US);Paroxysmal extreme pain disorder(US);Congenital Indifference to Pain(US);not specified(LB);Hereditary sensory and autonomic neuropathy type IIA(LB);Generalized epilepsy with febrile seizures plus, type 7(LB)" 12/30/2017 -8.4 0.9 BLB 3 291211 Simple 189772397 A . CI 1 4 not specified(US);Collagen VI-related myopathy(LB);not specified(LB);Bethlem myopathy 1(LB) 11/27/2017 -9 1 BLB 3 291232 Simple 34063250 A . CI 1 3 "not specified(B);Osteogenesis Imperfecta, Recessive(US);not specified(LB)" 10/30/2017 -9.3 0.666666667 BLB 3 291535 Simple 149558726 T . CI 1 4 "Marshall syndrome(LB);Fibrochondrogenesis(LB);Stickler Syndrome, Dominant(LB);not specified(US)" 5/4/2017 -9.3 1 BLB 3 291548 Simple 141978499 G . CI 1 5 "Stickler Syndrome, Dominant(LB);Fibrochondrogenesis(LB);Marshall syndrome(LB);not specified(US);not provided(LB)" 10/18/2017 -12.3 0.6 BLB 3 291991 Simple 11466111 T . CI 1 3 Congenital sensory neuropathy with selective loss of small myelinated fibers(US);Congenital sensory neuropathy with selective loss of small myelinated fibers(B);Congenital sensory neuropathy with selective loss of small myelinated fibers(LB) 8/9/2017 -9 1 BLB 3 292295 Simple 139869965 A . CI 1 4 "Ehlers-Danlos syndrome, hydroxylysine-deficient(US);Ehlers-Danlos syndrome, hydroxylysine-deficient(LB);not specified(LB);Cardiovascular phenotype(LB)" 12/27/2017 -9 0.75 BLB 3 292304 Simple 149124387 T . CI 1 3 "Ehlers-Danlos syndrome, hydroxylysine-deficient(US);Ehlers-Danlos syndrome, hydroxylysine-deficient(LB);Cardiovascular phenotype(B)" 10/23/2017 -9.3 0.666666667 BLB 3 292333 Simple 142637231 T . CI 1 3 mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency(US);not specified(LB);mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency(B) 12/27/2017 -9.3 0.333333333 BLB 3 292334 Simple 1992376 A . CI 1 3 mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency(US);mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency(B);not specified(B) 9/18/2017 -12.3 0.666666667 BLB 3 292373 Simple 11554508 T . CI 1 4 "Hereditary motor and sensory neuropathy(US);Charcot-Marie-Tooth, Type 2(US);not specified(B);Charcot-Marie-Tooth disease, type 2(B)" 11/17/2017 -12 1 BLB 3 292704 Simple 142150013 T . CI 1 3 "Severe congenital neutropenia(US);not specified(LB);Severe congenital neutropenia 3, autosomal recessive(B)" 11/27/2017 -9.3 0.666666667 BLB 3 292872 Simple 183517027 T . CI 1 3 Hereditary insensitivity to pain with anhidrosis(US);not specified(B);Hereditary insensitivity to pain with anhidrosis(B) 11/13/2017 -11.1 1.333333333 BLB 3 293126 Simple 148929192 T . CI 1 4 Alternating hemiplegia of childhood(US);Familial hemiplegic migraine(US);not specified(B);not specified(B) 2/24/2017 -12 1.25 BLB 3 293134 Simple 374749325 T . CI 1 5 Alternating hemiplegia of childhood(US);Familial hemiplegic migraine(US);not specified(LB);not specified(B);Familial hemiplegic migraine(LB) 10/31/2017 -12.6 0.6 BLB 3 294076 Simple 55761650 A . CI 1 3 "Chronic granulomatous disease(US);Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2(B);not specified(LB)" 12/19/2017 -9.3 0.666666667 BLB 3 294720 Simple 79011683 C . CI 1 3 Hypokalemic periodic paralysis(B);Malignant hyperthermia susceptibility(B);Malignant hyperthermia susceptibility type 5(US) 6/14/2016 -12.27 1.333333333 BLB 3 294780 Simple 148680317 G . CI 1 4 Hypokalemic periodic paralysis(US);Malignant hyperthermia susceptibility(US);not specified(LB);Hypokalemic periodic paralysis 1(B);Malignant hyperthermia susceptibility type 5(B) 1/9/2018 -9.6 0.5 BLB 3 295721 Simple 114223739 T . CI 1 4 Schwartz Jampel syndrome type 1(US);Dyssegmental Dysplasia(US);not specified(B);not specified(B) 11/22/2016 -12.6 1 BLB 3 295825 Simple 62642521 T . CI 1 4 Dyssegmental Dysplasia(US);Schwartz Jampel syndrome type 1(US);not specified(LB);not specified(B) 5/19/2017 -9.6 1 BLB 3 296015 Simple 145034527 T . CI 1 5 "Autosomal recessive cerebellar ataxia(US);Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type(LP);not provided(LP);Coenzyme Q10 deficiency, primary, 4(LP);not specified(US)" 10/5/2016 8.4 1 PLP 3 296350 Simple 41308172 A . CI 1 4 Ch??diak-Higashi syndrome(US);not specified(LB);Ch??diak-Higashi syndrome(B);Ch??diak-Higashi syndrome(LB) 12/7/2017 -11.4 1.5 BLB 3 296501 Simple 148646265 T . CI 1 4 "Dilated Cardiomyopathy, Dominant(US);Hypertrophic cardiomyopathy(US);Dilated cardiomyopathy 1AA(B);Primary familial hypertrophic cardiomyopathy(B);not specified(LB)" 11/20/2017 -9.6 0.5 BLB 3 296510 Simple 147245615 T . CI 1 6 "Dilated Cardiomyopathy, Dominant(US);Hypertrophic cardiomyopathy(US);not specified(LB);Dilated cardiomyopathy 1AA(LB);Primary familial hypertrophic cardiomyopathy(LB);not specified(LB);Cardiovascular phenotype(LB)" 10/23/2017 -12.6 0.5 BLB 3 296557 Simple 145006491 A . CI 1 3 "Disorders of Intracellular Cobalamin Metabolism(US);not specified(LB);METHYLCOBALAMIN DEFICIENCY, cblG TYPE(B)" 11/22/2017 -9.3 0.666666667 BLB 3 296558 Simple 115186224 T . CI 1 3 "Disorders of Intracellular Cobalamin Metabolism(US);not specified(LB);METHYLCOBALAMIN DEFICIENCY, cblG TYPE(B)" 2/28/2018 -9.3 0.333333333 BLB 3 296564 Simple 115424814 T . CI 1 3 "Disorders of Intracellular Cobalamin Metabolism(US);not specified(B);METHYLCOBALAMIN DEFICIENCY, cblG TYPE(B)" 12/11/2017 -11.7 1 BLB 3 296705 Simple 180711819 G . CI 1 5 "Cardiomyopathy, ARVC(US);Catecholaminergic polymorphic ventricular tachycardia(US);not specified(LB);Catecholaminergic polymorphic ventricular tachycardia(B);Cardiovascular phenotype(LB)" 7/14/2017 -12.6 0.6 BLB 3 296716 Simple 780664060 A . CI 1 5 "Catecholaminergic polymorphic ventricular tachycardia(US);Cardiomyopathy, ARVC(US);not specified(LB);Catecholaminergic polymorphic ventricular tachycardia(LB);Cardiovascular phenotype(LB)" 8/1/2017 -9.6 0.8 BLB 3 296722 Simple 755391572 A . CI 1 5 "Cardiomyopathy, ARVC(US);Catecholaminergic polymorphic ventricular tachycardia(US);Catecholaminergic polymorphic ventricular tachycardia(LB);not specified(LB);Cardiovascular phenotype(LB)" 1/4/2018 -9.6 0.6 BLB 3 296725 Simple 368826662 C . CI 1 4 "Catecholaminergic polymorphic ventricular tachycardia(US);Cardiomyopathy, ARVC(US);Catecholaminergic polymorphic ventricular tachycardia(B);Cardiovascular phenotype(LB)" 10/27/2017 -9.6 0.75 BLB 3 296740 Simple 774657844 C . CI 1 4 "Catecholaminergic polymorphic ventricular tachycardia(US);Cardiomyopathy, ARVC(US);not specified(B);Catecholaminergic polymorphic ventricular tachycardia(LB)" 4/14/2017 -9 1.25 BLB 3 296876 Simple 200542051 G . CI 1 6 Multiple Cutaneous and Uterine Leiomyomas(US);Fumarase deficiency(US);Multiple cutaneous leiomyomas(US);Fumarase deficiency(LB);Hereditary cancer-predisposing syndrome(LB);not specified(LB) 1/19/2018 -9.6 0.833333333 BLB 3 296877 Simple 201277370 C . CI 1 6 Fumarase deficiency(US);Multiple cutaneous leiomyomas(US);Multiple Cutaneous and Uterine Leiomyomas(US);Fumarase deficiency(LB);Hereditary cancer-predisposing syndrome(LB);not specified(LB) 3/8/2018 -9.9 0.666666667 BLB 3 296985 Simple 41291054 T . CI 1 4 "Familial hypercholesterolemia(US);not specified(LB);Hypercholesterolemia, autosomal recessive(LB);not provided(B)" 2/27/2018 -12.3 0.25 BLB 3 296986 Simple 41291058 T . CI 1 6 "Familial hypercholesterolemia(LB);not specified(B);not specified(B);Hypercholesterolemia, autosomal recessive(B);Hypercholesterolemia, autosomal recessive(US);not provided(B)" 8/4/2017 -26.7 0.666666667 B 3 297603 Simple 140853350 C . CI 1 3 Carnitine palmitoyltransferase II deficiency(US);not specified(LB);Carnitine palmitoyltransferase II deficiency(B) 3/26/2017 -9.3 1 BLB 3 297699 Simple 28362261 G . CI 1 8 "Familial hypobetalipoproteinemia(LB);Familial hypercholesterolemia(LB);Hypercholesterolemia, autosomal dominant, 3(US);not specified(B);Hypercholesterolemia, autosomal dominant, 3(B);Familial hypercholesterolemia(US);not provided(LB);not specified(LB)" 1/17/2018 -23.67 1.125 BLB 3 297962 Simple 111624565 A . CI 1 4 "Distal spinal muscular atrophy(US);not specified(B);not specified(B);Distal spinal muscular atrophy, autosomal recessive 4(LB);Charcot-Marie-Tooth disease, recessive intermediate c(LB)" 12/20/2017 -14.7 1 BLB 3 297971 Simple 143484278 T . CI 1 3 "Distal spinal muscular atrophy(US);not specified(LB);Distal spinal muscular atrophy, autosomal recessive 4(B);Charcot-Marie-Tooth disease, recessive intermediate c(B)" 1/30/2018 -9.3 0.333333333 BLB 3 298232 Simple 114518437 A . CI 1 5 "Retinitis Pigmentosa, Recessive(LB);Stargardt Disease, Recessive(LB);Cone-Rod Dystrophy, Recessive(LB);Macular degeneration(LB);not specified(US)" 2/2/2017 -12.3 1 BLB 3 298572 Simple 150569584 T . CI 1 3 Medulloblastoma(US);Gorlin syndrome(B);Medulloblastoma(B);Hereditary cancer-predisposing syndrome(LB) 11/30/2017 -9.3 0.666666667 BLB 3 300034 Simple 201813523 T . CI 1 4 Macular degeneration(LB);Cockayne syndrome(LB);Cerebrooculofacioskeletal Syndrome(LB);not specified(US) 3/16/2017 -9.3 1 BLB 3 300368 Simple 144665176 G . CI 1 4 Histiocytosis-lymphadenopathy plus syndrome(US);Histiocytosis-lymphadenopathy plus syndrome(B);Histiocytosis-lymphadenopathy plus syndrome(LB);Histiocytosis-lymphadenopathy plus syndrome(LB) 9/4/2017 -12.3 0.5 BLB 3 300394 Simple 71012280 AGGCGAGGCG . CI 1 6 "Nonsyndromic Hearing Loss, Recessive(US);Retinitis pigmentosa-deafness syndrome(US);CDH23-Related Disorders(LB);Nonsyndromic Hearing Loss, Recessive(LB);Retinitis pigmentosa-deafness syndrome(LB);not specified(LB)" 6/14/2016 -12.3 1.166666667 BLB 3 300473 Simple 368441850 T . CI 1 7 "CDH23-Related Disorders(US);Nonsyndromic Hearing Loss, Recessive(US);Retinitis pigmentosa-deafness syndrome(US);Metachromatic leukodystrophy(LB);Atypical Gaucher Disease(LB);Combined saposin deficiency(LB);Galactosylceramide beta-galactosidase deficiency(LB)" 6/14/2016 -12.9 1 BLB 3 300475 Simple 200638595 A . CI 1 7 "Retinitis pigmentosa-deafness syndrome(US);Nonsyndromic Hearing Loss, Recessive(US);CDH23-Related Disorders(US);Atypical Gaucher Disease(LB);Galactosylceramide beta-galactosidase deficiency(LB);Combined saposin deficiency(LB);Metachromatic leukodystrophy(LB)" 6/14/2016 -12.9 1 BLB 3 300476 Simple 201727938 T . CI 1 7 "Nonsyndromic Hearing Loss, Recessive(US);Retinitis pigmentosa-deafness syndrome(US);CDH23-Related Disorders(US);Galactosylceramide beta-galactosidase deficiency(LB);Metachromatic leukodystrophy(LB);Combined saposin deficiency(LB);Atypical Gaucher Disease(LB)" 6/14/2016 -12.9 1 BLB 3 300477 Simple 562590210 A . CI 1 8 "CDH23-Related Disorders(US);Nonsyndromic Hearing Loss, Recessive(US);Retinitis pigmentosa-deafness syndrome(US);Galactosylceramide beta-galactosidase deficiency(LB);Atypical Gaucher Disease(LB);Metachromatic leukodystrophy(LB);Combined saposin deficiency(LB);not specified(US)" 6/26/2017 -13.2 0.875 BLB 3 300478 Simple 376804660 A . CI 1 8 "Nonsyndromic Hearing Loss, Recessive(US);CDH23-Related Disorders(US);Retinitis pigmentosa-deafness syndrome(US);Combined saposin deficiency(LB);Atypical Gaucher Disease(LB);Galactosylceramide beta-galactosidase deficiency(LB);Metachromatic leukodystrophy(LB);not specified(LB)" 10/31/2017 -15.9 0.875 BLB 3 300482 Simple 527311705 C . CI 1 7 "Nonsyndromic Hearing Loss, Recessive(US);CDH23-Related Disorders(US);Retinitis pigmentosa-deafness syndrome(US);Atypical Gaucher Disease(LB);Galactosylceramide beta-galactosidase deficiency(LB);Combined saposin deficiency(LB);Metachromatic leukodystrophy(LB)" 6/14/2016 -12.9 1 BLB 3 300485 Simple 377312107 C . CI 1 6 "Nonsyndromic Hearing Loss, Recessive(US);Retinitis pigmentosa-deafness syndrome(US);Combined saposin deficiency(LB);Galactosylceramide beta-galactosidase deficiency(LB);Metachromatic leukodystrophy(LB);Atypical Gaucher Disease(LB)" 6/14/2016 -12.6 1 BLB 3 300487 Simple 535544696 A . CI 1 7 "CDH23-Related Disorders(US);Nonsyndromic Hearing Loss, Recessive(US);Retinitis pigmentosa-deafness syndrome(US);Metachromatic leukodystrophy(LB);Galactosylceramide beta-galactosidase deficiency(LB);Atypical Gaucher Disease(LB);Combined saposin deficiency(LB)" 6/14/2016 -12.9 1 BLB 3 300490 Simple 115033851 A . CI 1 6 "Retinitis pigmentosa-deafness syndrome(US);Nonsyndromic Hearing Loss, Recessive(US);Atypical Gaucher Disease(LB);Galactosylceramide beta-galactosidase deficiency(LB);Metachromatic leukodystrophy(LB);Combined saposin deficiency(LB)" 6/14/2016 -12.6 1 BLB 3 300491 Simple 562268606 T . CI 1 7 "Retinitis pigmentosa-deafness syndrome(US);Nonsyndromic Hearing Loss, Recessive(US);CDH23-Related Disorders(US);Galactosylceramide beta-galactosidase deficiency(LB);Atypical Gaucher Disease(LB);Combined saposin deficiency(LB);Metachromatic leukodystrophy(LB)" 6/14/2016 -12.9 1 BLB 3 300492 Simple 529522213 A . CI 1 6 "Nonsyndromic Hearing Loss, Recessive(US);Retinitis pigmentosa-deafness syndrome(US);Combined saposin deficiency(LB);Metachromatic leukodystrophy(LB);Galactosylceramide beta-galactosidase deficiency(LB);Atypical Gaucher Disease(LB)" 6/14/2016 -12.6 1 BLB 3 300494 Simple 16929375 A . CI 1 6 "Retinitis pigmentosa-deafness syndrome(US);Nonsyndromic Hearing Loss, Recessive(US);Metachromatic leukodystrophy(LB);Galactosylceramide beta-galactosidase deficiency(LB);Atypical Gaucher Disease(LB);Combined saposin deficiency(LB)" 6/14/2016 -12.6 1 BLB 3 300495 Simple 148667421 - . CI 1 7 "Nonsyndromic Hearing Loss, Recessive(US);Retinitis pigmentosa-deafness syndrome(US);CDH23-Related Disorders(US);Galactosylceramide beta-galactosidase deficiency(LB);Combined saposin deficiency(LB);Metachromatic leukodystrophy(LB);Atypical Gaucher Disease(LB)" 6/14/2016 -12.9 1 BLB 3 301351 Simple 367550999 G . CI 1 3 Juvenile Polyposis(US);not specified(B);Hereditary cancer-predisposing syndrome(LB) 6/14/2016 -8.4 1.666666667 BLB 3 301509 Simple 141933412 G . CI 1 6 "Moyamoya disease(US);Thoracic aortic aneurysm and aortic dissection(US);Multisystemic smooth muscle dysfunction syndrome(US);not specified(B);not provided(LB);Aortic aneurysm, familial thoracic 6(LB)" 11/30/2017 -12.3 1 BLB 3 301605 Simple 72003210 . . CI 1 4 "Dilated Cardiomyopathy, Dominant(US);Dilated Cardiomyopathy, Dominant(US);not specified(B);Total anomalous pulmonary venous return(B)" 9/6/2016 -12 1.25 BLB 3 301756 Simple 149309642 A . CI 1 4 "Cutis laxa, recessive(US);not specified(LB);Cutis laxa-corneal clouding-oligophrenia syndrome(B);Spastic paraplegia 9(B);Cutis laxa, autosomal dominant 3(B);Cutis laxa-corneal clouding-oligophrenia syndrome(LB)" 1/10/2018 -11.7 1 BLB 3 301768 Simple 144816455 T . CI 1 3 "Cutis laxa, recessive(US);not specified(LB);Cutis laxa-corneal clouding-oligophrenia syndrome(B);Spastic paraplegia 9(B);Cutis laxa, autosomal dominant 3(B)" 2/1/2018 -9.3 0.333333333 BLB 3 301872 Simple 148187321 G . CI 1 3 "Charcot-Marie-Tooth, Type 4(US);not specified(B);Charcot-Marie-Tooth disease, type IV(B)" 12/28/2017 -11.1 1.333333333 BLB 3 301996 Simple 112718117 C . CI 1 4 Short Rib Polydactyly Syndrome(US);Jeune thoracic dystrophy(US);not specified(B);Jeune thoracic dystrophy(B) 6/21/2017 -12.6 0.75 BLB 3 302024 Simple 202082545 C . CI 1 4 Jeune thoracic dystrophy(US);Short Rib Polydactyly Syndrome(US);Jeune thoracic dystrophy(B);not specified(B) 11/27/2017 -12.6 0.75 BLB 3 302028 Simple 118191062 C . CI 1 4 Short Rib Polydactyly Syndrome(US);Jeune thoracic dystrophy(US);not specified(B);Jeune thoracic dystrophy(B) 7/14/2017 -12 1 BLB 3 302108 Simple 78599571 T . CI 1 4 Jeune thoracic dystrophy(US);Short Rib Polydactyly Syndrome(US);Jeune thoracic dystrophy(B);not specified(B) 11/6/2017 -12.6 0.5 BLB 3 302131 Simple 144717489 C . CI 1 4 Short Rib Polydactyly Syndrome(US);Jeune thoracic dystrophy(US);not specified(B);Jeune thoracic dystrophy(B) 7/28/2017 -12.6 0.75 BLB 3 302544 Simple 4252303 A . CI 1 4 "Inflammatory bowel disease(US);Inflammatory bowel disease 28, autosomal recessive(B);Inflammatory bowel disease 28, autosomal recessive(B);Inflammatory bowel disease 28, autosomal recessive(LB)" 12/7/2017 -14.1 1.25 BLB 3 303740 Simple 539975714 A . CI 1 6 "Maturity onset diabetes mellitus in young(US);Transient Neonatal Diabetes, Dominant(US);Hyperinsulinism, Dominant/Recessive(US);Transient Neonatal Diabetes, Dominant(LB);Permanent neonatal diabetes mellitus(LB);Hyperinsulinism, Dominant/Recessive(LB)" 6/14/2016 -9.9 1 BLB 3 303742 Simple 529946415 G . CI 1 6 "Maturity onset diabetes mellitus in young(US);Transient Neonatal Diabetes, Dominant(US);Hyperinsulinism, Dominant/Recessive(US);Permanent neonatal diabetes mellitus(LB);Transient Neonatal Diabetes, Dominant(LB);Hyperinsulinism, Dominant/Recessive(LB)" 6/14/2016 -9.9 1 BLB 3 303745 Simple 547932593 G . CI 1 6 "Maturity onset diabetes mellitus in young(US);Hyperinsulinism, Dominant/Recessive(US);Transient Neonatal Diabetes, Dominant(US);Permanent neonatal diabetes mellitus(LB);Hyperinsulinism, Dominant/Recessive(LB);Transient Neonatal Diabetes, Dominant(LB)" 6/14/2016 -9.9 1 BLB 3 303778 Simple 201419039 A . CI 1 4 "Transient Neonatal Diabetes, Dominant(LB);Hyperinsulinism, Dominant/Recessive(LB);Permanent neonatal diabetes mellitus(LB);not specified(US)" 8/30/2016 -9.3 1 BLB 3 303791 Simple 541244107 T . CI 1 4 "Transient Neonatal Diabetes, Dominant(LB);Permanent neonatal diabetes mellitus(LB);Hyperinsulinism, Dominant/Recessive(LB);not specified(US)" 6/14/2016 -9.27 1.25 BLB 3 303833 Simple 557342549 A . CI 1 3 "Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive(US);not specified(LB);Neuronal ceroid lipofuscinosis(B)" 6/19/2017 -9.3 0.666666667 BLB 3 303913 Simple 61752915 A . CI 1 3 Glycogen storage disease XI(US);not specified(B);Lactate dehydrogenase deficiency type A(B) 11/28/2017 -12.3 0.666666667 BLB 3 304739 Simple 141379070 T . CI 1 3 Congenital disorder of glycosylation(US);not specified(LB);Congenital disorder of glycosylation type 2C(B) 11/6/2017 -9.3 0.333333333 BLB 3 305361 Simple 147021687 C . CI 1 3 Aicardi Goutieres syndrome(US);Aicardi Goutieres syndrome 3(B);Aicardi Goutieres syndrome 3(LB) 7/31/2017 -9.3 0.333333333 BLB 3 305377 Simple 2234473 A . CI 1 5 "Cutis laxa, recessive(US);Autosomal recessive cutis laxa type 1B(B);not provided(B);not specified(LB);Autosomal recessive cutis laxa type 1B(LB)" 1/11/2018 -18.3 0.2 BLB 3 305472 Simple 150553044 G . CI 1 3 Bardet-Biedl syndrome(US);Bardet-Biedl syndrome(B);Bardet-Biedl syndrome(LB) 9/22/2017 -9.3 0.333333333 BLB 3 305509 Simple 141482368 G . CI 1 3 "Neuronal Ceroid-Lipofuscinosis, Recessive(US);not specified(LB);Neuronal ceroid lipofuscinosis(B)" 11/27/2017 -9.3 0.666666667 BLB 3 305832 Simple 144401213 T . CI 1 3 "Spinal muscular atrophy(US);not specified(B);Spinal muscular atrophy, distal, autosomal recessive, 1(B);Charcot-Marie-Tooth disease, axonal, type 2S(B)" 9/26/2017 -11.7 1 BLB 3 305837 Simple 76690064 G . CI 1 3 "Spinal muscular atrophy(US);not specified(B);Spinal muscular atrophy, distal, autosomal recessive, 1(B);Charcot-Marie-Tooth disease, axonal, type 2S(B)" 9/26/2017 -11.7 1 BLB 3 305957 Simple 74909468 A . CI 1 3 Smith-Lemli-Opitz syndrome(US);not specified(B);Smith-Lemli-Opitz syndrome(B) 11/8/2017 -11.7 1 BLB 3 306539 Simple 112327353 A . CI 1 4 "Charcot-Marie-Tooth, Type 4(US);not specified(LB);Charcot-Marie-Tooth disease, type IV(B);not specified(LB)" 7/14/2017 -12 1 BLB 3 306547 Simple 141498429 - . CI 1 4 "Charcot-Marie-Tooth, Type 4(US);Charcot-Marie-Tooth disease, type IV(LB);not specified(LB);not specified(LB)" 12/4/2017 -9.3 0.5 BLB 3 307550 Simple 139927033 G . CI 1 4 Joubert syndrome(US);Meckel-Gruber syndrome(US);not specified(LB);Joubert syndrome(B);Meckel-Gruber syndrome(B) 6/26/2017 -9.6 0.75 BLB 3 307588 Simple 80355657 T . CI 1 4 "Cutis laxa, recessive(US);not specified(LB);not specified(B);ALG9 congenital disorder of glycosylation(B)" 1/31/2017 -15.3 1 BLB 3 308156 Simple 369267978 A . CI 1 4 Brugada syndrome(US);Timothy syndrome(US);not specified(B);Long QT syndrome(B) 9/1/2017 -11.4 1.25 BLB 3 308289 Simple 34555341 A . CI 1 3 "Charcot-Marie-Tooth, Type 4(US);Charcot-Marie-Tooth disease, type IV(B);not specified(B)" 2/2/2018 -12.3 0.666666667 BLB 3 309795 Simple 113343213 A . CI 1 3 "Congenital Muscular Dystrophy, ITGA7-related(US);Muscular dystrophy, congenital, due to integrin alpha-7 deficiency(B);not specified(B)" 12/15/2017 -12.3 0.666666667 BLB 3 310896 Simple 41281644 G . CI 1 4 "Spinocerebellar Ataxia, Dominant(US);not specified(B);Spinocerebellar ataxia 27(LB);Spinocerebellar ataxia 27(LB)" 6/28/2017 -11.7 1.25 BLB 3 310987 Simple 2232639 G . CI 1 4 Severe combined immunodeficiency with sensitivity to ionizing radiation(US);Lig4 syndrome(US);not specified(B);Lig4 syndrome(B) 12/4/2017 -12 1 BLB 3 310994 Simple 2232637 A . CI 1 4 Lig4 syndrome(US);Severe combined immunodeficiency with sensitivity to ionizing radiation(US);not specified(LB);Lig4 syndrome(B) 12/6/2017 -9.3 1 BLB 3 311023 Simple 199586038 A . CI 1 4 "Porencephalic cyst(LB);Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps(LB);Brain small vessel disease with hemorrhage(LB);not specified(US)" 6/14/2016 -9.27 1.25 BLB 3 311065 Simple 75711155 C . CI 1 4 "Porencephalic cyst(LB);Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps(LB);Brain small vessel disease with hemorrhage(LB);not specified(US)" 6/14/2016 -9.27 1.25 BLB 3 311508 Simple 35256065 C . CI 1 3 Spastic ataxia Charlevoix-Saguenay type(US);not specified(B);Spastic paraplegia(B) 1/23/2018 -12.3 0.333333333 BLB 3 312428 Simple 751496223 T . CI 1 3 "Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive(US);not specified(B);Neuronal ceroid lipofuscinosis(LB)" 9/18/2017 -8.7 1 BLB 3 312617 Simple 202110844 G . CI 1 5 "Charcot-Marie-Tooth, Type 2(US);Spinocerebellar Ataxia, Dominant(US);Intellectual Disability, Dominant(US);not specified(LB);Charcot-Marie-Tooth disease, axonal, type 2O(B)" 11/24/2017 -9.9 0.6 BLB 3 312625 Simple 114021657 C . CI 1 5 "Charcot-Marie-Tooth, Type 2(US);Intellectual Disability, Dominant(US);Spinocerebellar Ataxia, Dominant(US);Charcot-Marie-Tooth disease, axonal, type 2O(B);not specified(LB)" 1/31/2018 -9.9 0.6 BLB 3 312626 Simple 144359313 C . CI 1 5 "Charcot-Marie-Tooth, Type 2(US);Spinocerebellar Ataxia, Dominant(US);Intellectual Disability, Dominant(US);not specified(LB);Charcot-Marie-Tooth disease, axonal, type 2O(B)" 12/14/2017 -9.9 0.8 BLB 3 312628 Simple 75094258 C . CI 1 5 "Spinocerebellar Ataxia, Dominant(US);Charcot-Marie-Tooth, Type 2(US);Intellectual Disability, Dominant(US);not specified(B);Charcot-Marie-Tooth disease, axonal, type 2O(B)" 11/21/2017 -12.3 1 BLB 3 312631 Simple 139919955 G . CI 1 6 "Spinocerebellar Ataxia, Dominant(US);Charcot-Marie-Tooth, Type 2(US);Intellectual Disability, Dominant(US);not specified(LB);not specified(LB);Charcot-Marie-Tooth disease, axonal, type 2O(B)" 4/22/2017 -12.3 1.333333333 BLB 3 312641 Simple 77113510 A . CI 1 5 "Spinocerebellar Ataxia, Dominant(US);Intellectual Disability, Dominant(US);Charcot-Marie-Tooth, Type 2(US);not specified(B);Charcot-Marie-Tooth disease, axonal, type 2O(B)" 1/3/2018 -12.3 1 BLB 3 312655 Simple 141242095 T . CI 1 5 "Charcot-Marie-Tooth, Type 2(US);Spinocerebellar Ataxia, Dominant(US);Intellectual Disability, Dominant(US);Charcot-Marie-Tooth disease, axonal, type 2O(B);not specified(LB)" 12/20/2017 -9.9 0.6 BLB 3 312663 Simple 17541650 T . CI 1 6 "Charcot-Marie-Tooth, Type 2(US);Intellectual Disability, Dominant(US);Spinocerebellar Ataxia, Dominant(US);not specified(LB);Charcot-Marie-Tooth disease, axonal, type 2O(B);not specified(B)" 11/15/2017 -15.3 0.833333333 BLB 3 312821 Simple 151261004 G . CI 1 3 Lysinuric protein intolerance(US);not specified(LB);Lysinuric protein intolerance(B) 8/1/2017 -9.3 0.333333333 BLB 3 312839 Simple 200662317 A . CI 1 7 "Atrial septal defect(US);Hypertrophic cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);not specified(LB);Familial hypertrophic cardiomyopathy 14(B);not specified(US);Cardiovascular phenotype(LB)" 9/11/2017 -12.9 0.857142857 BLB 3 313193 Simple 77374493 T . CI 1 3 Fanconi anemia(US);Fanconi anemia(B);not specified(LB) 10/19/2017 -9 1 BLB 3 313877 Simple 144007962 T . CI 1 3 "Spastic Paraplegia, Recessive(US);Spastic paraplegia(B);not specified(B)" 11/9/2017 -12.3 0.333333333 BLB 3 313900 Simple 149276487 C . CI 1 3 "Spastic Paraplegia, Recessive(US);Spastic paraplegia(B);not specified(LB)" 11/15/2016 -9.3 1 BLB 3 314944 Simple 117748213 A . CI 1 3 Achondrogenesis(US);not specified(LB);not specified(B) 4/27/2017 -9.3 1 BLB 3 315122 Simple 191021502 C . CI 1 3 Pontoneocerebellar hypoplasia(US);not specified(B);Pontocerebellar hypoplasia type 1A(B) 12/22/2017 -12.3 0.666666667 BLB 3 315708 Simple 572654192 - . CI 1 11 "Atrial septal defect(LB);Left ventricular noncompaction cardiomyopathy(LB);Hypertrophic cardiomyopathy(LB);Dilated Cardiomyopathy, Dominant(LB);Familial restrictive cardiomyopathy(LB);Atrial septal defect(US);Dilated Cardiomyopathy, Dominant(US);Left ventricular noncompaction cardiomyopathy(US);Hypertrophic cardiomyopathy(US);Familial restrictive cardiomyopathy(US);not specified(B)" 3/16/2018 -22.5 0.909090909 BLB 3 316095 Simple 141177255 A . CI 1 3 "Spastic Paraplegia, Recessive(US);not specified(LB);Spastic paraplegia 11, autosomal recessive(B)" 8/25/2017 -9.3 0.666666667 BLB 3 316364 Simple 199522781 T . CI 1 11 Acromicric dysplasia(LB);Thoracic aortic aneurysm and aortic dissection(LB);Marfan syndrome(LB);Weill-Marchesani syndrome(LB);Ectopia lentis(LB);MASS syndrome(LB);Stiff skin syndrome(LB);Geleophysic dysplasia(LB);not specified(US);not specified(US);Marfan syndrome(LB);Thoracic aortic aneurysm and aortic dissection(LB) 12/22/2017 -27.57 1 B 3 316746 Simple 568675071 C . CI 1 3 "Nemaline Myopathy, Dominant(LB);not specified(US);Nemaline myopathy 6(B)" 1/4/2018 -9.3 0.333333333 BLB 3 317206 Simple 34749737 G . CI 1 3 Hypertyrosinemia(US);Tyrosinemia type I(B);not specified(B) 11/15/2017 -12.3 0.666666667 BLB 3 317276 Simple 34405660 A . CI 1 3 Fanconi anemia(US);Fanconi anemia(B);not specified(LB) 12/5/2017 -9 1 BLB 3 317326 Simple 555280530 G . CI 1 3 POLG-Related Spectrum Disorders(US);not specified(LB);Progressive sclerosing poliodystrophy(B) 7/6/2017 -8.7 1 BLB 3 318101 Simple 144421849 G . CI 1 4 "Lissencephaly, Recessive(US);Aortic aneurysm, familial thoracic 4(LB);not specified(LB);Cardiovascular phenotype(LB)" 3/1/2018 -9.3 0.25 BLB 3 318162 Simple 138977949 T . CI 1 4 "Thoracic aortic aneurysm and aortic dissection(US);not specified(LB);Aortic aneurysm, familial thoracic 4(LB);Cardiovascular phenotype(LB)" 12/18/2017 -9.3 0.5 BLB 3 318306 Simple 199991910 T . CI 1 4 Tuberous sclerosis syndrome(US);not specified(LB);Tuberous sclerosis 2(B);Hereditary cancer-predisposing syndrome(LB) 12/21/2017 -12 0.75 BLB 3 318936 Simple 138416154 T . CI 1 3 Glycogen phosphorylase kinase deficiency(US);not specified(LB);Glycogen storage disease IXc(B) 11/28/2017 -9.3 0.333333333 BLB 3 319336 Simple 151155518 G . CI 1 4 Glycogen phosphorylase kinase deficiency(US);not provided(LB);not specified(B);Glycogen storage disease IXb(B) 1/9/2018 -14.7 1 BLB 3 319356 Simple 187940556 G . CI 1 3 Glycogen phosphorylase kinase deficiency(US);Glycogen storage disease IXb(B);not specified(LB) 3/2/2018 -9.3 0.333333333 BLB 3 319357 Simple 9934849 T . CI 1 3 Glycogen phosphorylase kinase deficiency(US);not specified(LB);Glycogen storage disease IXb(B) 7/26/2017 -9.3 0.333333333 BLB 3 319360 Simple 12918964 T . CI 1 3 Glycogen phosphorylase kinase deficiency(US);not specified(B);Glycogen storage disease IXb(LB) 12/26/2017 -9.3 0.666666667 BLB 3 319399 Simple 138409264 T . CI 1 3 Kohlschutter's syndrome(US);not provided(LB);Kohlschutter's syndrome(B) 12/13/2017 -9.3 0.666666667 BLB 3 321215 Simple 2304472 T . CI 1 3 Congenital disorder of glycosylation(US);Carbohydrate-deficient glycoprotein syndrome type I(B);not specified(B) 1/31/2018 -12.3 0.666666667 BLB 3 321360 Simple 34159559 A . CI 1 4 Fanconi anemia(US);Fanconi anemia(B);not specified(LB);not provided(LB) 6/16/2017 -12 1 BLB 3 322029 Simple 72553875 TT . CI 1 3 "Common Variable Immune Deficiency, Dominant(US);not provided(P);Common variable immunodeficiency 2(P)" 12/14/2017 11.7 0.333333333 PLP 3 322064 Simple 372207262 C . CI 1 5 Spontaneous pneumothorax(US);Multiple fibrofolliculomas(US);Multiple fibrofolliculomas(B);Hereditary cancer-predisposing syndrome(LB);not specified(LB) 3/8/2018 -12 1 BLB 3 322065 Simple 138031155 A . CI 1 6 Multiple fibrofolliculomas(US);Spontaneous pneumothorax(US);Multiple fibrofolliculomas(US);Hereditary cancer-predisposing syndrome(LB);not provided(LB);not specified(LB) 1/18/2018 -9.9 0.5 BLB 3 323823 Simple 200210055 A . CI 1 3 Progressive myoclonic epilepsy(US);not specified(B);Progressive myoclonic epilepsy(LB) 11/27/2017 -8.7 1 BLB 3 324088 Simple 564411753 TTTT . CI 1 6 "Infantile cortical hyperostosis(LB);Osteogenesis Imperfecta, Dominant(LB);Ehlers-Danlos syndrome, type 7A(LB);Osteogenesis Imperfecta, Dominant(US);Infantile cortical hyperostosis(US);Ehlers-Danlos syndrome, type 7A(US)" 6/14/2016 -9.9 1 BLB 3 324101 Simple 370865189 T . CI 1 5 "Ehlers-Danlos syndrome, type 7A(US);Infantile cortical hyperostosis(US);Osteogenesis Imperfecta, Dominant(US);not specified(LB);Osteogenesis imperfecta type I(B)" 9/21/2017 -9.9 0.6 BLB 3 324105 Simple 201682029 G . CI 1 5 "Infantile cortical hyperostosis(US);Ehlers-Danlos syndrome, type 7A(US);Osteogenesis Imperfecta, Dominant(US);not specified(B);Osteogenesis imperfecta type I(LB)" 12/28/2017 -9.9 0.8 BLB 3 324117 Simple 201136122 A . CI 1 6 "Ehlers-Danlos syndrome, type 7A(US);Infantile cortical hyperostosis(US);Osteogenesis Imperfecta, Dominant(US);Osteogenesis imperfecta type I(B);not specified(US);not specified(LB)" 8/21/2017 -10.2 0.666666667 BLB 3 324350 Simple 767164240 T . CI 1 5 "Neoplasm of the breast(US);Fanconi anemia(US);Hereditary cancer-predisposing syndrome(LB);not specified(LB);Familial cancer of breast(LB);Fanconi anemia, complementation group J(LB)" 11/28/2017 -9.6 0.8 BLB 3 324524 Simple 759982229 A . CI 1 7 "Paramyotonia congenita of von Eulenburg(LB);Potassium aggravated myotonia(LB);Hypokalemic periodic paralysis(LB);Congenital Myasthenic Syndrome, Recessive(LB);Hyperkalemic Periodic Paralysis(LB);not specified(US);not specified(LB)" 3/6/2017 -18.3 1 BLB 3 324528 Simple 199827271 T . CI 1 7 "Paramyotonia congenita of von Eulenburg(LB);Congenital Myasthenic Syndrome, Recessive(LB);Hyperkalemic Periodic Paralysis(LB);Hypokalemic periodic paralysis(LB);Potassium aggravated myotonia(LB);not specified(LB);Hyperkalemic Periodic Paralysis Type 1(LB)" 1/9/2018 -21 0.857142857 BLB 3 324537 Simple 187401185 C . CI 1 8 "Paramyotonia congenita of von Eulenburg(LB);Congenital Myasthenic Syndrome, Recessive(LB);Hyperkalemic Periodic Paralysis(LB);Potassium aggravated myotonia(LB);Hypokalemic periodic paralysis(LB);not specified(LB);Hyperkalemic Periodic Paralysis Type 1(LB);Potassium aggravated myotonia(B);Paramyotonia congenita of von Eulenburg(B);Hypokalemic periodic paralysis, type 2(B);Hyperkalemic Periodic Paralysis Type 1(B);Congenital myasthenic syndrome, acetazolamide-responsive(B)" 12/28/2017 -27 0.75 B 3 324540 Simple 185941768 T . CI 1 8 "Paramyotonia congenita of von Eulenburg(LB);Potassium aggravated myotonia(LB);Hypokalemic periodic paralysis(LB);Congenital Myasthenic Syndrome, Recessive(LB);Hyperkalemic Periodic Paralysis(LB);not specified(US);not specified(B);Hyperkalemic Periodic Paralysis Type 1(LB)" 12/19/2017 -24.3 0.75 BLB 3 324552 Simple 41280110 T . CI 1 8 "Congenital Myasthenic Syndrome, Recessive(LB);Potassium aggravated myotonia(LB);Hyperkalemic Periodic Paralysis(LB);Hypokalemic periodic paralysis(LB);Paramyotonia congenita of von Eulenburg(LB);not specified(LB);Hyperkalemic Periodic Paralysis Type 1(LB);Potassium aggravated myotonia(B);Paramyotonia congenita of von Eulenburg(B);Hypokalemic periodic paralysis, type 2(B);Hyperkalemic Periodic Paralysis Type 1(B);Congenital myasthenic syndrome, acetazolamide-responsive(B)" 9/23/2017 -27 0.875 B 3 324988 Simple 76547988 T . CI 1 3 Very long chain acyl-CoA dehydrogenase deficiency(US);not specified(B);Very long chain acyl-CoA dehydrogenase deficiency(B) 12/19/2017 -12.3 0.666666667 BLB 3 325835 Simple 766938111 T . CI 1 3 "Sanfilippo syndrome(US);not provided(LP);Mucopolysaccharidosis, MPS-III-A(P)" 4/26/2017 8.4 1.333333333 PLP 3 326079 Simple 78320653 T . CI 1 3 "Dyskeratosis Congenita, Recessive(US);not specified(LB);Dyskeratosis congenita(B)" 11/6/2017 -9 1 BLB 3 326393 Simple 755276378 T . CI 1 4 "Cardiomyopathy, ARVC(US);Arrhythmogenic right ventricular cardiomyopathy, type 11(LB);not specified(LB);Cardiovascular phenotype(LB)" 6/11/2017 -9.3 0.75 BLB 3 326643 Simple 746626720 - . CI 1 4 Majeed syndrome(US);not specified(LB);Majeed syndrome(LB);Majeed syndrome(B) 11/17/2017 -11.7 1.25 BLB 3 327110 Simple 752243771 C . CI 1 6 Juvenile Polyposis(US);Myhre syndrome(US);Osler hemorrhagic telangiectasia syndrome(US);Juvenile polyposis syndrome(LB);not specified(LB);Juvenile polyposis syndrome(LB) 8/7/2017 -9.9 0.833333333 BLB 3 327959 Simple 55988893 T . CI 1 3 "Familial Atypical Mycobacteriosis, Autosomal Recessive(US);not specified(LB);Tyrosine kinase 2 deficiency(B)" 8/10/2017 -9.3 0.666666667 BLB 3 327976 Simple 200191870 T . CI 1 6 "Centronuclear Myopathy, Dominant(US);Charcot-Marie-Tooth, Intermediate(US);not specified(LB);not specified(LB);not specified(LB);DNM2-related intermediate Charcot-Marie-Tooth neuropathy(LB)" 9/13/2017 -12.3 1 BLB 3 327980 Simple 201575500 G . CI 1 5 "Charcot-Marie-Tooth, Intermediate(LB);Centronuclear Myopathy, Dominant(LB);DNM2-related intermediate Charcot-Marie-Tooth neuropathy(US);not specified(US);not specified(LB)" 12/7/2017 -9.6 0.8 BLB 3 328051 Simple 17242906 T . CI 1 3 Familial hypercholesterolemia(LB);Familial hypercholesterolemia(US);Familial hypercholesterolemia(B) 1/12/2018 -9.27 1 BLB 3 328228 Simple 774072752 T . CI 1 5 Peutz-Jeghers syndrome(US);not specified(B);Hereditary cancer-predisposing syndrome(US);not specified(US);not provided(B) 9/1/2017 -12.3 1 BLB 3 328591 Simple 79972275 A . CI 1 4 "Familial Atypical Mycobacteriosis, Autosomal Recessive(US);Immunodeficiency 30(B);Disseminated atypical mycobacterial infection(LB);Disseminated atypical mycobacterial infection(B)" 1/4/2018 -15 0.75 BLB 3 329032 Simple 754476250 T . CI 1 5 "Neuromuscular disease, congenital, with uniform type 1 fiber(LB);Multiminicore Disease(LB);Malignant hyperthermia susceptibility(LB);Central core disease(LB);RYR1-Related Disorders(US)" 2/1/2017 -12.3 1 BLB 3 329041 Simple 886054392 - . CI 1 7 "Malignant hyperthermia susceptibility(LB);Neuromuscular disease, congenital, with uniform type 1 fiber(LB);Central core disease(LB);Multiminicore Disease(LB);not specified(LB);not specified(US);RYR1-Related Disorders(LB)" 11/16/2017 -18.3 0.857142857 BLB 3 329090 Simple 199738299 G . CI 1 6 "Multiminicore Disease(LB);Neuromuscular disease, congenital, with uniform type 1 fiber(LB);Malignant hyperthermia susceptibility(LB);Central core disease(LB);not specified(US);RYR1-Related Disorders(US)" 8/21/2017 -12.6 0.833333333 BLB 3 329250 Simple 76088917 G . CI 1 3 "Charcot-Marie-Tooth, Type 4(US);not specified(B);Charcot-Marie-Tooth disease, type IV(B)" 12/28/2017 -12.3 0.666666667 BLB 3 329253 Simple 143289108 T . CI 1 4 "Charcot-Marie-Tooth, Type 4(US);not specified(B);Charcot-Marie-Tooth disease, type IV(B);not specified(LB)" 11/28/2017 -15.3 0.75 BLB 3 329262 Simple 201792838 A . CI 1 3 "Charcot-Marie-Tooth, Type 4(US);Charcot-Marie-Tooth disease, type IV(B);not specified(LB)" 2/27/2018 -9.3 0.333333333 BLB 3 329277 Simple 76960467 A . CI 1 3 "Charcot-Marie-Tooth, Type 4(US);Charcot-Marie-Tooth disease, type IV(B);not specified(B)" 12/28/2017 -12.3 0.666666667 BLB 3 329598 Simple 139897733 TTATTTAT . CI 1 4 "Optic Atrophy, Dominant(B);3-Methylglutaconic aciduria type 3(B);3-Methylglutaconic aciduria type 3(US);Optic Atrophy, Dominant(US)" 6/14/2016 -12.6 1 BLB 3 329805 Simple 5452 A . CI 1 4 "Glycogen storage disease 0, muscle(US);Hyperferritinemia cataract syndrome(LB);Neuroferritinopathy(LB);not specified(LB)" 7/7/2017 -9.3 0.75 BLB 3 329809 Simple 145789213 A . CI 1 4 "Glycogen storage disease 0, muscle(US);Neuroferritinopathy(LB);Hyperferritinemia cataract syndrome(LB);not specified(LB)" 6/5/2017 -9.3 0.75 BLB 3 330217 Simple 559008223 A . CI 1 5 "Ciliary dyskinesia(US);Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome(LB);Hypertrophic cardiomyopathy(LB);Dilated Cardiomyopathy, Recessive(LB);Familial restrictive cardiomyopathy(LB)" 6/14/2016 -12.3 1 BLB 3 331055 Simple 61748158 T . CI 1 3 Autosomal recessive centronuclear myopathy(US);Autosomal recessive centronuclear myopathy(B);not specified(LB) 11/13/2017 -9.3 0.666666667 BLB 3 331383 Simple 61750442 G . CI 1 5 Methylmalonic acidemia(US);Disorders of Intracellular Cobalamin Metabolism(US);not provided(LB);not specified(B);Methylmalonic acidemia with homocystinuria cblD(B) 7/26/2017 -15 1 BLB 3 331432 Simple 762865768 AAAA . CI 1 3 "not specified(LB);not specified(B);Nemaline Myopathy, Recessive(US)" 6/14/2016 -8.4 1.666666667 BLB 3 331478 Simple 199789085 T . CI 1 4 "Nemaline Myopathy, Recessive(US);not specified(LB);not specified(LB);Nemaline myopathy 2(LB)" 11/21/2017 -9.3 0.5 BLB 3 331500 Simple 146310692 T . CI 1 3 "Nemaline Myopathy, Recessive(US);not specified(LB);Nemaline myopathy 2(B)" 12/6/2017 -9.3 0.666666667 BLB 3 331508 Simple 142074817 A . CI 1 4 "Nemaline Myopathy, Recessive(US);not specified(LB);Nemaline myopathy 2(B);not specified(B)" 12/6/2017 -15.3 0.5 BLB 3 331514 Simple 34234609 T . CI 1 4 "Nemaline Myopathy, Recessive(US);not provided(LB);Nemaline myopathy 2(B);not specified(LB)" 2/16/2018 -12.3 0.25 BLB 3 331517 Simple 144376972 A . CI 1 4 "Nemaline Myopathy, Recessive(US);not specified(LB);Nemaline myopathy 2(B);not specified(B)" 12/6/2017 -15.3 0.5 BLB 3 331530 Simple 146460133 A . CI 1 3 "Nemaline Myopathy, Recessive(US);not specified(LB);Nemaline myopathy 2(B)" 4/26/2017 -9.3 1 BLB 3 331737 Simple 199698414 C . CI 1 5 "Benign familial neonatal-infantile seizures(US);Early Infantile Epileptic Encephalopathy, Autosomal Dominant(US);not specified(LB);not specified(LB);Benign familial neonatal-infantile seizures(LB);Early infantile epileptic encephalopathy 11(LB)" 2/21/2018 -9.6 0.6 BLB 3 331831 Simple 77106136 C . CI 1 5 Joubert syndrome(US);Jeune thoracic dystrophy(US);not specified(LB);not specified(B);Jeune thoracic dystrophy(B);Nephronophthisis(B) 12/7/2017 -15.6 0.8 BLB 3 331974 Simple 188145203 T . CI 1 8 Inherited Erythromelalgia(LB);Familial Febrile Seizures(LB);Generalized epilepsy with febrile seizures plus(LB);Small fiber neuropathy(LB);Paroxysmal extreme pain disorder(LB);Severe myoclonic epilepsy in infancy(LB);Congenital Indifference to Pain(LB);not specified(US) 6/20/2016 -21.3 1 BLB 3 331988 Simple 199748300 T . CI 1 8 Generalized epilepsy with febrile seizures plus(LB);Paroxysmal extreme pain disorder(LB);Small fiber neuropathy(LB);Inherited Erythromelalgia(LB);Familial Febrile Seizures(LB);Severe myoclonic epilepsy in infancy(LB);Congenital Indifference to Pain(LB);not specified(US) 5/17/2017 -21.3 1 BLB 3 332440 Simple 61737716 A . CI 1 4 "Congenital Myasthenic Syndrome, Dominant/Recessive(US);Multiple pterygium syndrome Escobar type(US);not specified(LB);Lethal multiple pterygium syndrome(B)" 12/19/2017 -9.6 0.75 BLB 3 332743 Simple 760858743 T . CI 1 10 "Hypertrophic cardiomyopathy(US);Distal myopathy Markesbery-Griggs type(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Hereditary myopathy with early respiratory failure(US);Dilated Cardiomyopathy, Dominant(US);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(LB);Cardiovascular phenotype(LB)" 12/21/2017 -19.2 1 BLB 3 332788 Simple 368692510 G . CI 1 8 "Hypertrophic cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);Distal myopathy Markesbery-Griggs type(US);Dilated Cardiomyopathy, Dominant(US);not specified(B);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB)" 11/26/2016 -10.2 1.125 BLB 3 332857 Simple 190058852 C . CI 1 8 "Limb-Girdle Muscular Dystrophy, Recessive(US);Hereditary myopathy with early respiratory failure(US);Hypertrophic cardiomyopathy(US);Distal myopathy Markesbery-Griggs type(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);not specified(B);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B)" 11/10/2017 -13.8 0.875 BLB 3 332876 Simple 373511249 C . CI 1 8 "Myopathy, early-onset, with fatal cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Dilated Cardiomyopathy, Dominant(US);Hypertrophic cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);Distal myopathy Markesbery-Griggs type(US);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(LB)" 9/29/2017 -10.8 0.875 BLB 3 332883 Simple 147418835 C . CI 1 8 "Dilated Cardiomyopathy, Dominant(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Distal myopathy Markesbery-Griggs type(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Hypertrophic cardiomyopathy(US);Hereditary myopathy with early respiratory failure(US);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB);not specified(B)" 5/23/2017 -10.8 1 BLB 3 332887 Simple 181395238 G . CI 1 8 "Distal myopathy Markesbery-Griggs type(US);Dilated Cardiomyopathy, Dominant(US);Hereditary myopathy with early respiratory failure(US);Hypertrophic cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Dilated cardiomyopathy 1G(B);Limb-girdle muscular dystrophy, type 2J(B);not specified(B)" 12/18/2017 -13.8 0.875 BLB 3 332956 Simple 145709534 T . CI 1 8 "Distal myopathy Markesbery-Griggs type(US);Hypertrophic cardiomyopathy(US);Limb-Girdle Muscular Dystrophy, Recessive(US);Myopathy, early-onset, with fatal cardiomyopathy(US);Dilated Cardiomyopathy, Dominant(US);Hereditary myopathy with early respiratory failure(US);not specified(B);Dilated cardiomyopathy 1G(LB);Limb-girdle muscular dystrophy, type 2J(LB)" 7/27/2017 -10.2 1 BLB 3 333140 Simple 370774253 A . CI 1 4 "Ehlers-Danlos syndrome, type 7A(US);not specified(LB);Ehlers-Danlos syndrome, classic type(LB);Cardiovascular phenotype(LB)" 9/23/2017 -9.3 0.5 BLB 3 333144 Simple 191193125 G . CI 1 3 "Ehlers-Danlos syndrome, type 7A(US);Ehlers-Danlos syndrome, classic type(LB);not specified(B)" 3/16/2017 -9.3 1 BLB 3 333441 Simple 148939095 T . CI 1 3 "Autoimmune lymphoproliferative syndrome(LB);not specified(US);Autoimmune lymphoproliferative syndrome, type 2A(B);Autoimmune lymphoproliferative syndrome type 2(B)" 11/22/2017 -9.3 0.666666667 BLB 3 333732 Simple 140049646 G . CI 1 3 "Common Variable Immune Deficiency, Recessive(US);not specified(B);Common variable immunodeficiency 1(B)" 10/19/2017 -11.7 1 BLB 3 333874 Simple 202233735 C . CI 1 2 Cataract(LB);Aculeiform cataract(B) 11/6/2017 -9 0.5 BLB 3 334030 Simple 577707531 - . CI 1 4 "Congenital hyperammonemia, type I(US);not specified(LB);not provided(LB);not provided(B)" 10/24/2017 -12.3 0.75 BLB 3 334031 Simple 368909569 A . CI 1 3 "Congenital hyperammonemia, type I(US);Congenital hyperammonemia, type I(B);not specified(B)" 6/20/2017 -12.3 0.666666667 BLB 3 334091 Simple 1801698 C . CI 1 4 "Familial hypobetalipoproteinemia(US);Familial hypercholesterolemia(US);Hypercholesterolemia, autosomal dominant, type B(B);Hypobetalipoproteinemia, familial, 1(B);not specified(LB)" 1/8/2018 -9.6 0.5 BLB 3 334125 Simple 148170480 T . CI 1 7 "Familial hypobetalipoproteinemia(US);Familial hypercholesterolemia(US);Hypercholesterolemia, autosomal dominant, type B(B);Hypobetalipoproteinemia, familial, 1(B);Hypercholesterolemia, autosomal dominant, type B(US);Hypobetalipoproteinemia, familial, 1(US);Familial hypercholesterolemia(LB);not specified(LB)" 2/23/2018 -13.2 0.285714286 BLB 3 334149 Simple 72653079 A . CI 1 4 "Familial hypercholesterolemia(US);Familial hypobetalipoproteinemia(US);Hypercholesterolemia, autosomal dominant, type B(B);Hypobetalipoproteinemia, familial, 1(B);not specified(B)" 12/3/2017 -12.6 0.5 BLB 3 334155 Simple 142448733 T . CI 1 5 "Familial hypercholesterolemia(US);Familial hypobetalipoproteinemia(US);Hypercholesterolemia, autosomal dominant, type B(B);Hypobetalipoproteinemia, familial, 1(B);Familial hypercholesterolemia(LB);not specified(LB)" 1/4/2018 -12.6 0.6 BLB 3 334158 Simple 72653073 G . CI 1 5 "Familial hypercholesterolemia(US);Familial hypobetalipoproteinemia(US);Hypercholesterolemia, autosomal dominant, type B(B);Hypobetalipoproteinemia, familial, 1(B);Familial hypercholesterolemia(LB);not specified(LB)" 1/15/2018 -12.6 0.4 BLB 3 334160 Simple 575505383 T . CI 1 3 "Familial hypercholesterolemia(US);Familial hypercholesterolemia(LB);Hypercholesterolemia, autosomal dominant, type B(B);Hypobetalipoproteinemia, familial, 1(B)" 12/29/2017 -9.3 0.333333333 BLB 3 334173 Simple 12714225 G . CI 1 6 "Familial hypobetalipoproteinemia(LB);Familial hypercholesterolemia(LB);not specified(B);Familial hypercholesterolemia(US);Hypercholesterolemia, autosomal dominant, type B(B);Hypobetalipoproteinemia, familial, 1(B);not specified(LB)" 12/5/2017 -20.67 1.166666667 BLB 3 334184 Simple 6752026 A . CI 1 6 "Familial hypobetalipoproteinemia(LB);Familial hypercholesterolemia(LB);Hypercholesterolemia, autosomal dominant, type B(B);Hypobetalipoproteinemia, familial, 1(B);Familial hypercholesterolemia(US);Familial hypercholesterolemia(B);not specified(B)" 7/24/2017 -24.27 0.833333333 BLB 3 334187 Simple 186544754 A . CI 1 5 "Familial hypercholesterolemia(US);Familial hypobetalipoproteinemia(US);not specified(US);Hypercholesterolemia, autosomal dominant, type B(B);Hypobetalipoproteinemia, familial, 1(B);Familial hypercholesterolemia(LB)" 10/6/2017 -9.9 0.6 BLB 3 334399 Simple 77583146 A . CI 1 5 "Odontoonychodermal dysplasia(LB);Selective tooth agenesis(LB);Schopf-Schulz-Passarge syndrome(LB);not specified(US);Odontoonychodermal dysplasia(B);Tooth agenesis, selective, 4(B)" 12/18/2017 -15.3 0.6 BLB 3 334721 Simple 56247709 A . CI 1 3 Alport syndrome(US);not specified(B);not specified(LB) 11/3/2017 -9.3 0.666666667 BLB 3 334883 Simple 17853011 C . CI 1 3 "Thiamine Metabolism Dysfunction Syndrome(US);not specified(LB);Basal ganglia disease, biotin-responsive(B)" 6/20/2017 -9.3 0.666666667 BLB 3 335256 Simple 191428830 T . CI 1 5 "Intellectual Disability, Dominant(LB);Spastic Paraplegia, Recessive(LB);Hereditary sensory and autonomic neuropathy type II(LB);not specified(US);Spastic paraplegia 30, autosomal recessive(B);Hereditary sensory and autonomic neuropathy type IIC(B);Mental retardation, autosomal dominant 9(B)" 10/10/2017 -15.3 0.8 BLB 3 335266 Simple 144520412 A . CI 1 6 "Spastic Paraplegia, Recessive(US);Hereditary sensory and autonomic neuropathy type II(US);Intellectual Disability, Dominant(US);not specified(B);not specified(US);Spastic paraplegia 30, autosomal recessive(B);Hereditary sensory and autonomic neuropathy type IIC(B);Mental retardation, autosomal dominant 9(B)" 12/23/2017 -13.2 0.833333333 BLB 3 335281 Simple 565992344 A . CI 1 5 "Spastic Paraplegia, Recessive(US);Hereditary sensory and autonomic neuropathy type II(US);Intellectual Disability, Dominant(US);not specified(LB);Spastic paraplegia 30, autosomal recessive(B);Hereditary sensory and autonomic neuropathy type IIC(B);Mental retardation, autosomal dominant 9(B)" 6/19/2017 -9.9 0.8 BLB 3 335282 Simple 141052770 A . CI 1 6 "Spastic Paraplegia, Recessive(US);Hereditary sensory and autonomic neuropathy type II(US);Intellectual Disability, Dominant(US);not specified(LB);not specified(LB);Spastic paraplegia 30, autosomal recessive(B);Hereditary sensory and autonomic neuropathy type IIC(B);Mental retardation, autosomal dominant 9(B)" 12/29/2017 -12.9 0.833333333 BLB 3 335285 Simple 74469870 A . CI 1 5 "Spastic Paraplegia, Recessive(US);Hereditary sensory and autonomic neuropathy type II(US);Intellectual Disability, Dominant(US);not specified(LB);Spastic paraplegia 30, autosomal recessive(B);Hereditary sensory and autonomic neuropathy type IIC(B);Mental retardation, autosomal dominant 9(B)" 12/28/2017 -9.9 0.6 BLB 3 335389 Simple 144414842 C . CI 1 4 LCHAD Deficiency(US);Mitochondrial trifunctional protein deficiency(US);not specified(LB);Trifunctional protein deficiency with myopathy and neuropathy(B);Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency(B) 3/5/2018 -9.6 0.5 BLB 3 335692 Simple 144437923 T . CI 1 4 Neuroblastoma Susceptibility(US);Neuroblastoma 3(LB);Hereditary cancer-predisposing syndrome(LB);Neuroblastoma 3(LB) 12/18/2017 -9.3 0.5 BLB 3 336439 Simple 886056141 T . CI 1 5 Lynch syndrome(US);Hereditary nonpolyposis colon cancer(LB);Hereditary cancer-predisposing syndrome(LB);Hereditary cancer-predisposing syndrome(LB);not provided(US) 8/27/2017 -9.3 1 BLB 3 336969 Simple 145401010 G . CI 1 5 "Limb-Girdle Muscular Dystrophy, Recessive(US);Miyoshi myopathy(US);not specified(LB);not specified(LB);Dysferlinopathy(B)" 2/2/2018 -12.6 0.6 BLB 3 337114 Simple 369653963 C . CI 1 3 Congenital disorder of glycosylation(US);not specified(LB);Congenital disorder of glycosylation type 2B(B) 12/9/2017 -9.3 0.333333333 BLB 3 338163 Simple 143462810 G . CI 1 2 "Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency(LB);Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency(B)" 12/27/2017 -9 0.5 BLB 3 338216 Simple 143309917 A . CI 1 5 Romano-Ward syndrome(US);Long QT syndrome(US);not specified(LB);Cardiovascular phenotype(LB);Long QT syndrome(B) 12/29/2017 -12.3 0.8 BLB 3 338505 Simple 116962828 G . CI 1 3 Severe combined immunodeficiency due to ADA deficiency(US);Severe combined immunodeficiency due to ADA deficiency(B);not specified(LB) 11/7/2017 -9.3 0.333333333 BLB 3 338510 Simple 45557242 T . CI 1 4 Severe combined immunodeficiency due to ADA deficiency(US);Severe combined immunodeficiency due to ADA deficiency(B);Severe combined immunodeficiency due to ADA deficiency(LB);Severe combined immunodeficiency due to ADA deficiency(LB) 11/22/2017 -12 0.75 BLB 3 338591 Simple 199848479 T . CI 1 4 Arterial tortuosity syndrome(US);not specified(LB);Cardiovascular phenotype(LB);Arterial tortuosity syndrome(LB) 6/28/2017 -9 1 BLB 3 338756 Simple 16995639 G . CI 1 3 Congenital disorder of glycosylation(US);not specified(LB);Congenital disorder of glycosylation type 1E(B) 12/19/2017 -9.3 0.333333333 BLB 3 339966 Simple 149291867 T . CI 1 4 Holocarboxylase synthetase deficiency(US);not specified(LB);not specified(US);Holocarboxylase synthetase deficiency(B) 10/3/2017 -9.27 1.25 BLB 3 340183 Simple 5030667 A . CI 1 3 Leukocyte adhesion deficiency(US);not specified(B);Leukocyte adhesion deficiency type 1(B) 8/21/2017 -11.7 1 BLB 3 340368 Simple 144334894 A . CI 1 4 Myosclerosis(LB);Collagen VI-related myopathy(LB);not specified(US);Bethlem myopathy 1(LB) 8/3/2017 -9.3 0.75 BLB 3 341191 Simple 35915865 C . CI 1 3 Transcobalamin II deficiency(US);not specified(B);Transcobalamin II deficiency(B) 7/21/2017 -12.3 0.666666667 BLB 3 341312 Simple 61752254 T . CI 1 4 "Parkinson Disease, Recessive(US);Parkinson disease 15(B);not specified(LB);Parkinson disease 15(LB)" 12/11/2017 -12.3 0.5 BLB 3 341438 Simple 34642406 C . CI 1 5 "Congenital Muscular Dystrophy, alpha-dystroglycan related(US);Walker-Warburg Syndrome(US);not specified(LB);not specified(LB);Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6(B)" 12/26/2017 -12.6 0.6 BLB 3 341877 Simple 150374940 T . CI 1 6 "Common Variable Immune Deficiency, Recessive(US);not specified(LB);Common variable immunodeficiency 4(LB);not specified(LB);Common variable immunodeficiency 4(LB);Common variable immunodeficiency 4(LB)" 1/17/2018 -15 0.5 BLB 3 342176 Simple 180979987 A . CI 1 3 "Congenital Muscular Dystrophy, CHKB-related(US);not specified(LB);Muscular dystrophy, congenital, megaconial type(B)" 11/10/2017 -9.3 0.333333333 BLB 3 342177 Simple 138205828 C . CI 1 3 "Congenital Muscular Dystrophy, CHKB-related(US);not specified(B);Muscular dystrophy, congenital, megaconial type(B)" 10/17/2017 -12.3 0.333333333 BLB 3 342802 Simple 200620134 T . CI 1 5 "Familial hypocalciuric hypercalcemia(LB);Hypocalcemia(LB);Neonatal severe hyperparathyroidism(LB);Hypoparathyroidism familial isolated(LB);Hypocalciuric hypercalcemia, familial, type 1(US);Hypocalcemia, autosomal dominant 1(US)" 12/11/2017 -12.3 0.8 BLB 3 342866 Simple 56262958 A . CI 1 4 "Thoracic aortic aneurysm and aortic dissection(US);not specified(LB);Aortic aneurysm, familial thoracic 7(B);not specified(B)" 12/5/2017 -15.3 0.75 BLB 3 342867 Simple 142220417 A . CI 1 3 "Thoracic aortic aneurysm and aortic dissection(US);Aortic aneurysm, familial thoracic 7(B);Cardiovascular phenotype(B)" 9/2/2016 -11.7 1.333333333 BLB 3 342871 Simple 187964526 C . CI 1 3 "Thoracic aortic aneurysm and aortic dissection(US);Aortic aneurysm, familial thoracic 7(B);not specified(LB)" 12/9/2017 -9.3 0.333333333 BLB 3 342891 Simple 138777049 A . CI 1 4 "Thoracic aortic aneurysm and aortic dissection(US);not specified(LB);Aortic aneurysm, familial thoracic 7(LB);Cardiovascular phenotype(LB)" 3/5/2018 -9 0.75 BLB 3 343504 Simple 149883381 T . CI 1 5 "Cardiomyopathy, ARVC(US);not specified(LB);not specified(LB);Arrhythmogenic right ventricular cardiomyopathy, type 5(B);Cardiovascular phenotype(LB)" 11/14/2017 -15.3 0.6 BLB 3 343507 Simple 143958148 T . CI 1 3 "Cardiomyopathy, ARVC(US);Arrhythmogenic right ventricular cardiomyopathy, type 5(B);Cardiovascular phenotype(LB)" 12/21/2017 -9.3 0.666666667 BLB 3 344910 Simple 550890395 T . CI 1 5 Lynch syndrome(US);not specified(LB);Hereditary nonpolyposis colon cancer(LB);Hereditary cancer-predisposing syndrome(LB);Hereditary cancer-predisposing syndrome(LB) 10/16/2017 -12 1 BLB 3 345118 Simple 41310769 G . CI 1 9 "Paroxysmal familial ventricular fibrillation(US);Dilated Cardiomyopathy, Dominant(US);Long QT syndrome(US);Brugada syndrome(US);Romano-Ward syndrome(US);Progressive familial heart block(US);Sick sinus syndrome(US);Brugada syndrome(B);not specified(B)" 11/6/2017 -14.1 0.777777778 BLB 3 345125 Simple 191840835 T . CI 1 9 "Long QT syndrome(US);Progressive familial heart block(US);Brugada syndrome(US);Dilated Cardiomyopathy, Dominant(US);Romano-Ward syndrome(US);Sick sinus syndrome(US);Paroxysmal familial ventricular fibrillation(US);not specified(B);Brugada syndrome(LB)" 11/27/2017 -9.9 1.111111111 BLB 3 346117 Simple 777417522 A . CI 1 5 Tumor susceptibility linked to germline BAP1 mutations(US);Tumor susceptibility linked to germline BAP1 mutations(LB);Hereditary cancer-predisposing syndrome(LB);Hereditary cancer-predisposing syndrome(LB);not specified(LB) 1/10/2018 -12.3 0.8 BLB 3 347302 Simple 146964054 T . CI 1 3 Long QT syndrome(US);not specified(B);Long QT syndrome(B) 4/10/2017 -11.7 1.333333333 BLB 3 347344 Simple 148462839 T . CI 1 4 Long QT syndrome(US);not specified(LB);Long QT syndrome(LB);Cardiovascular phenotype(LB) 12/21/2017 -9.3 0.25 BLB 3 347498 Simple 78457123 A . CI 1 3 Bardet-Biedl syndrome(US);not provided(LB);Bardet-Biedl syndrome(B) 2/3/2017 -9.3 1 BLB 3 348984 Simple 201800139 T . CI 1 6 Ellis-van Creveld Syndrome(US);not specified(LB);not specified(LB);Chondroectodermal dysplasia(B);Curry-Hall syndrome(B);not specified(B);not specified(LB) 8/24/2017 -21 1 BLB 3 348989 Simple 73074138 C . CI 1 4 Ellis-van Creveld Syndrome(US);not provided(LB);not specified(B);Chondroectodermal dysplasia(B);Curry-Hall syndrome(B) 12/10/2017 -15.3 0.5 BLB 3 348998 Simple 186058156 G . CI 1 3 Ellis-van Creveld Syndrome(US);not specified(B);Chondroectodermal dysplasia(B);Curry-Hall syndrome(B) 4/19/2017 -12.3 1 BLB 3 349008 Simple 61733673 G . CI 1 4 Congenital disorder of glycosylation(US);not specified(B);not provided(LB);Congenital disorder of glycosylation type 1Q(B) 11/8/2017 -14.7 1 BLB 3 349080 Simple 113869406 G . CI 1 4 Ellis-van Creveld Syndrome(US);not provided(LB);not specified(B);Chondroectodermal dysplasia(B);Curry-Hall syndrome(B) 9/20/2017 -15.3 0.5 BLB 3 349081 Simple 565481824 AAAA . CI 1 4 not specified(US);Ellis-van Creveld Syndrome(US);not provided(LB);Chondroectodermal dysplasia(B);Curry-Hall syndrome(B) 7/28/2017 -9.54 1.25 BLB 3 349089 Simple 138972736 C . CI 1 4 Ellis-van Creveld Syndrome(US);not specified(B);not specified(B);Chondroectodermal dysplasia(B);Curry-Hall syndrome(B) 11/14/2017 -18.3 0.5 BLB 3 350418 Simple 765332758 T . CI 1 4 APC-Associated Polyposis Disorders(US);not specified(LB);Hereditary cancer-predisposing syndrome(LB);Familial adenomatous polyposis 1(LB) 1/4/2018 -8.7 1.25 BLB 3 350421 Simple 769603145 A . CI 1 5 APC-Associated Polyposis Disorders(US);not specified(LB);Hereditary cancer-predisposing syndrome(LB);Familial adenomatous polyposis 1(LB);Hereditary cancer-predisposing syndrome(LB) 12/27/2017 -11.7 1.2 BLB 3 350422 Simple 543396310 G . CI 1 4 APC-Associated Polyposis Disorders(LB);Familial adenomatous polyposis 1(B);not specified(LB);Hereditary cancer-predisposing syndrome(US) 1/2/2018 -12.3 0.5 BLB 3 350638 Simple 34649270 T . CI 1 3 "Myopathy, areflexia, respiratory distress, and dysphagia, early-onset(US);not specified(B);Myopathy, areflexia, respiratory distress, and dysphagia, early-onset(B)" 1/4/2018 -12.3 0.333333333 BLB 3 350644 Simple 142947482 T . CI 1 4 "Myopathy, areflexia, respiratory distress, and dysphagia, early-onset(US);not specified(LB);not specified(B);Myopathy, areflexia, respiratory distress, and dysphagia, early-onset(B)" 11/15/2017 -15.3 0.5 BLB 3 350651 Simple 140563851 A . CI 1 3 "Myopathy, areflexia, respiratory distress, and dysphagia, early-onset(US);Myopathy, areflexia, respiratory distress, and dysphagia, early-onset(B);not specified(LB)" 12/29/2017 -9.3 0.333333333 BLB 3 350652 Simple 114704569 T . CI 1 3 "Myopathy, areflexia, respiratory distress, and dysphagia, early-onset(US);Myopathy, areflexia, respiratory distress, and dysphagia, early-onset(B);not specified(LB)" 1/16/2018 -9.3 0.333333333 BLB 3 350664 Simple 139929890 T . CI 1 3 "Myopathy, areflexia, respiratory distress, and dysphagia, early-onset(US);not specified(LB);Myopathy, areflexia, respiratory distress, and dysphagia, early-onset(B)" 12/29/2017 -9.3 0.333333333 BLB 3 350665 Simple 116500162 A . CI 1 3 "Myopathy, areflexia, respiratory distress, and dysphagia, early-onset(US);not specified(LB);Myopathy, areflexia, respiratory distress, and dysphagia, early-onset(B)" 12/26/2017 -9.3 0.666666667 BLB 3 350669 Simple 185480820 T . CI 1 4 "Myopathy, areflexia, respiratory distress, and dysphagia, early-onset(US);not specified(LB);not specified(LB);Myopathy, areflexia, respiratory distress, and dysphagia, early-onset(B)" 11/27/2017 -12.3 0.5 BLB 3 351200 Simple 201639682 - . CI 1 3 Ciliary dyskinesia(US);not specified(B);Ciliary dyskinesia(B) 12/29/2016 -11.7 1.333333333 BLB 3 351294 Simple 760344729 - . CI 1 3 "Nonsyndromic Hearing Loss, Mixed(US);Deafness, autosomal dominant 1(B);Seizures, cortical blindness, and microcephaly syndrome(B);not specified(B)" 12/13/2017 -12.3 0.333333333 BLB 3 351296 Simple 193036129 T . CI 1 4 "Nonsyndromic Hearing Loss, Mixed(LB);not provided(US);Deafness, autosomal dominant 1(LB);Seizures, cortical blindness, and microcephaly syndrome(LB);not specified(B)" 1/10/2018 -12.3 0.5 BLB 3 351519 Simple 142558269 T . CI 1 5 Netherton syndrome(US);not provided(LB);Netherton syndrome(B);Netherton syndrome(B);Netherton syndrome(LB) 1/5/2018 -17.1 0.8 BLB 3 351896 Simple 144873879 G . CI 1 6 "Charcot-Marie-Tooth, Type 4(US);Mononeuropathy of the Median Nerve(US);not specified(B);not specified(LB);Charcot-Marie-Tooth disease, type IV(B);not specified(US)" 12/19/2017 -14.7 1.166666667 BLB 3 351900 Simple 193067884 A . CI 1 4 "Charcot-Marie-Tooth, Type 4(US);Mononeuropathy of the Median Nerve(US);not specified(B);Charcot-Marie-Tooth disease, type IV(B)" 11/9/2017 -12.6 0.75 BLB 3 351903 Simple 76488338 T . CI 1 4 "Charcot-Marie-Tooth, Type 4(US);Mononeuropathy of the Median Nerve(US);Charcot-Marie-Tooth disease, type IV(B);not specified(B)" 12/19/2017 -12 1 BLB 3 351917 Simple 141289653 A . CI 1 4 "Mononeuropathy of the Median Nerve(US);Charcot-Marie-Tooth, Type 4(US);not specified(LB);Charcot-Marie-Tooth disease, type IV(B)" 9/14/2017 -9.6 0.75 BLB 3 353099 Simple 112155474 T . CI 1 4 "Ehlers-Danlos syndrome, type vii, autosomal recessive(US);not specified(LB);Ehlers-Danlos syndrome, type vii, autosomal recessive(B);not specified(US)" 1/31/2018 -9.6 0.5 BLB 3 353113 Simple 149391669 A . CI 1 3 "Ehlers-Danlos syndrome, type vii, autosomal recessive(US);not specified(LB);Ehlers-Danlos syndrome, type vii, autosomal recessive(B)" 11/6/2017 -9.3 0.666666667 BLB 3 353120 Simple 61731454 C . CI 1 3 "Ehlers-Danlos syndrome, type vii, autosomal recessive(US);not specified(LB);Ehlers-Danlos syndrome, type vii, autosomal recessive(B)" 1/2/2018 -9.3 0.333333333 BLB 3 353121 Simple 61757478 A . CI 1 3 "Ehlers-Danlos syndrome, type vii, autosomal recessive(US);not specified(LB);Ehlers-Danlos syndrome, type vii, autosomal recessive(B)" 1/8/2018 -9.3 0.333333333 BLB 3 353123 Simple 41285549 T . CI 1 4 "Ehlers-Danlos syndrome, type vii, autosomal recessive(US);not specified(LB);Ehlers-Danlos syndrome, type vii, autosomal recessive(B);not specified(B)" 12/21/2017 -15.3 0.5 BLB 3 353148 Simple 752142266 - . CI 1 3 "Ehlers-Danlos syndrome, type vii, autosomal recessive(LB);not specified(B);Ehlers-Danlos syndrome, type vii, autosomal recessive(US)" 7/18/2017 -9.3 0.666666667 BLB 3 353203 Simple 146653693 T . CI 1 6 Mitochondrial complex II deficiency(US);Leigh syndrome(US);Pheochromocytoma(US);not specified(LB);Mitochondrial complex II deficiency(LB);Paragangliomas 5(LB);Hereditary cancer-predisposing syndrome(LB) 1/4/2018 -9.9 0.666666667 BLB 3 353439 Simple 141575785 C . CI 1 3 Joubert syndrome(US);not specified(LB);Orofaciodigital syndrome 6(B);Joubert syndrome 17(B) 2/22/2017 -9.3 1 BLB 3 354344 Simple 41282641 G . CI 1 3 "Disorders of Intracellular Cobalamin Metabolism(US);not specified(LB);Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type(B)" 2/15/2018 -9.3 0.333333333 BLB 3 355292 Simple 56209257 T . CI 1 3 "Congenital Muscular Dystrophy, LAMA2-related(US);not specified(LB);Laminin alpha 2-related dystrophy(B)" 9/29/2017 -9.3 0.666666667 BLB 3 356285 Simple 150920440 T . CI 1 4 Macular degeneration(LB);Atypical hemolytic uremic syndrome(LB);Macular degeneration(LB);Complement component 2 deficiency(LB) 2/28/2017 -12 1 BLB 3 356383 Simple 141254777 A . CI 1 7 "Stickler Syndrome, Dominant(LB);Weissenbacher-Zweymuller syndrome(LB);Otospondylomegaepiphyseal dysplasia(LB);Fibrochondrogenesis(LB);Nonsyndromic Hearing Loss, Dominant(LB);not specified(US);not specified(US)" 5/31/2017 -15.6 1 BLB 3 356407 Simple 201179101 A . CI 1 6 "Otospondylomegaepiphyseal dysplasia(LB);Nonsyndromic Hearing Loss, Dominant(LB);Weissenbacher-Zweymuller syndrome(LB);Stickler Syndrome, Dominant(LB);Fibrochondrogenesis(LB);not specified(US)" 10/17/2016 -15.3 1 BLB 3 357561 Simple 141573097 G . CI 1 3 "Neuropathy, hereditary sensory and autonomic, type VI(US);not provided(LB);Neuropathy, hereditary sensory and autonomic, type VI(B);Epidermolysis bullosa simplex, autosomal recessive 2(B)" 12/18/2017 -9.3 0.333333333 BLB 3 357617 Simple 113432929 A . CI 1 3 "Neuropathy, hereditary sensory and autonomic, type VI(US);Neuropathy, hereditary sensory and autonomic, type VI(B);Epidermolysis bullosa simplex, autosomal recessive 2(B);Neuropathy, hereditary sensory and autonomic, type VI(LB)" 12/21/2017 -9.3 0.333333333 BLB 3 357644 Simple 45479896 C . CI 1 3 Carpenter syndrome(US);not provided(LB);Carpenter syndrome 1(B) 10/30/2017 -9.3 0.666666667 BLB 3 357958 Simple 376186141 C . CI 1 6 "Epidermolysis bullosa, lethal acantholytic(US);Cardiomyopathy, ARVC(US);Skin fragility woolly hair syndrome(US);Ectodermal dysplasia skin fragility syndrome(US);not specified(LB);Dilated cardiomyopathy with woolly hair and keratoderma(B);Arrhythmogenic right ventricular cardiomyopathy, type 8(B)" 11/17/2017 -10.2 0.833333333 BLB 3 357959 Simple 562015789 T . CI 1 6 "Cardiomyopathy, ARVC(LB);Epidermolysis bullosa, lethal acantholytic(LB);Ectodermal dysplasia skin fragility syndrome(LB);Skin fragility woolly hair syndrome(LB);Dilated cardiomyopathy with woolly hair and keratoderma(LB);Arrhythmogenic right ventricular cardiomyopathy, type 8(LB);not specified(US)" 5/1/2017 -15.27 1.166666667 BLB 3 357961 Simple 557263443 A . CI 1 5 "Ectodermal dysplasia skin fragility syndrome(LB);Skin fragility woolly hair syndrome(LB);Epidermolysis bullosa, lethal acantholytic(LB);Cardiomyopathy, ARVC(LB);Dilated cardiomyopathy with woolly hair and keratoderma(US);Arrhythmogenic right ventricular cardiomyopathy, type 8(US)" 6/14/2016 -12.27 1.2 BLB 3 357965 Simple 147484870 C . CI 1 6 "Epidermolysis bullosa, lethal acantholytic(LB);Ectodermal dysplasia skin fragility syndrome(LB);Skin fragility woolly hair syndrome(LB);Cardiomyopathy, ARVC(LB);not specified(US);Dilated cardiomyopathy with woolly hair and keratoderma(LB);Arrhythmogenic right ventricular cardiomyopathy, type 8(LB)" 1/23/2018 -15.3 0.666666667 BLB 3 358171 Simple 138670449 T . CI 1 3 Maple syrup urine disease(US);Maple syrup urine disease(B);not specified(LB) 3/9/2018 -9.3 0.333333333 BLB 3 358381 Simple 74513461 G . CI 1 3 "Lissencephaly, Recessive(US);Lissencephaly 2(B);Epilepsy, familial temporal lobe, 7(B);not specified(B)" 12/8/2017 -12.3 0.333333333 BLB 3 358390 Simple 115379833 A . CI 1 3 "Lissencephaly, Recessive(US);not specified(LB);Lissencephaly 2(B);Epilepsy, familial temporal lobe, 7(B)" 12/13/2017 -9.3 0.333333333 BLB 3 358394 Simple 753376558 G . CI 1 4 "Lissencephaly, Recessive(US);not specified(LB);not specified(LB);Lissencephaly 2(LB);Epilepsy, familial temporal lobe, 7(LB)" 10/27/2017 -9.3 0.5 BLB 3 358407 Simple 145484343 T . CI 1 3 "Lissencephaly, Recessive(US);Lissencephaly 2(B);Epilepsy, familial temporal lobe, 7(B);not specified(LB)" 9/14/2017 -9.3 0.666666667 BLB 3 358409 Simple 115886170 A . CI 1 3 "Lissencephaly, Recessive(US);Lissencephaly 2(B);Epilepsy, familial temporal lobe, 7(B);not specified(LB)" 10/3/2017 -9.3 0.666666667 BLB 3 358417 Simple 114627891 A . CI 1 3 "Lissencephaly, Recessive(US);not specified(B);Lissencephaly 2(B);Epilepsy, familial temporal lobe, 7(B)" 12/4/2017 -12.3 0.666666667 BLB 3 358462 Simple 74443110 C . CI 1 3 Congenital disorder of glycosylation(US);not specified(B);Congenital disorder of glycosylation type 2i(B) 8/1/2016 -11.7 1.333333333 BLB 3 358465 Simple 74522314 C . CI 1 3 Congenital disorder of glycosylation(US);not specified(B);Congenital disorder of glycosylation type 2i(B) 12/6/2017 -12.3 0.666666667 BLB 3 359048 Simple 201481342 C . CI 1 4 Noonan syndrome with multiple lentigines(LB);Noonan syndrome(LB);Cardio-facio-cutaneous syndrome(LB);not specified(US) 5/1/2017 -9.3 1 BLB 3 359114 Simple 140205115 C . CI 1 4 "Myotonia congenita(LB);not specified(US);not specified(LB);Congenital myotonia, autosomal recessive form(LB);Congenital myotonia, autosomal dominant form(LB)" 12/4/2017 -9.3 0.5 BLB 3 359121 Simple 149316679 A . CI 1 4 "Myotonia congenita(LB);not specified(US);not specified(LB);Congenital myotonia, autosomal recessive form(LB);Congenital myotonia, autosomal dominant form(LB)" 9/5/2017 -9.3 0.5 BLB 3 359123 Simple 201855153 A . CI 1 3 "Myotonia congenita(LB);Congenital myotonia, autosomal recessive form(LB);Congenital myotonia, autosomal dominant form(LB);not specified(LB)" 10/7/2017 -9 0.333333333 BLB 3 359309 Simple 41307292 A . CI 1 4 Long QT syndrome(US);not specified(LB);not provided(B);not specified(US) 10/31/2016 -9.3 1.25 BLB 3 359592 Simple 61744487 A . CI 1 3 "Congenital Muscular Dystrophy, alpha-dystroglycan related(US);not specified(LB);Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7(B);Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7(B)" 1/3/2018 -9.3 0.666666667 BLB 3 360008 Simple 199741850 G . CI 1 4 "Peripheral axonal neuropathy(LB);Charcot-Marie-Tooth, Type 2(LB);Distal spinal muscular atrophy(LB);not specified(US)" 1/16/2017 -9.3 1 BLB 3 360011 Simple 192443850 G . CI 1 5 "Peripheral axonal neuropathy(LB);Charcot-Marie-Tooth, Type 2(LB);Distal spinal muscular atrophy(LB);not specified(US);Charcot-Marie-Tooth disease, type 2(US)" 12/11/2017 -9.6 0.80 BLB 3 360308 Simple 115454162 A . CI 1 3 "Spastic Paraplegia, Recessive(US);not specified(B);Spastic paraplegia 48, autosomal recessive(B)" 9/15/2017 -12.3 0.666666667 BLB 3 360961 Simple 189374343 G . CI 1 4 "Osteogenesis Imperfecta, Dominant(LB);Ehlers-Danlos syndrome, procollagen proteinase deficient(LB);Ehlers-Danlos syndrome, classic type(US);Osteogenesis imperfecta type I(US);not specified(LB)" 12/13/2017 -9.3 0.5 BLB 3 361049 Simple 138661755 G . CI 1 4 Cohen syndrome(US);not specified(LB);not specified(LB);Cohen syndrome(B) 11/18/2017 -12.3 0.75 BLB 3 363152 Simple 148632988 C . CI 1 3 "Sanfilippo syndrome(US);not specified(LB);Mucopolysaccharidosis, MPS-III-C(B);Retinitis pigmentosa 73(B)" 12/26/2017 -9 1 BLB 3 363480 Simple 202020722 G . CI 1 4 CHARGE association(US);Hypogonadism with anosmia(US);CHARGE association(B);not specified(LB) 9/26/2017 -9.6 0.5 BLB 3 363603 Simple 143536122 T . CI 1 3 "Temporal epilepsy, familial(US);Febrile seizures, familial, 11(B);not specified(B)" 10/3/2017 -12.3 0.666666667 BLB 3 363914 Simple 886063169 T . CI 1 4 "Microcephaly, normal intelligence and immunodeficiency(US);not specified(LB);Microcephaly, normal intelligence and immunodeficiency(LB);Hereditary cancer-predisposing syndrome(LB)" 12/21/2017 -8.7 1.25 BLB 3 364551 Simple 61749202 C . CI 1 3 Familial dysautonomia(US);Familial dysautonomia(B);not provided(B) 8/22/2017 -12.3 0.333333333 BLB 3 364572 Simple 35054425 C . CI 1 3 Familial dysautonomia(US);Familial dysautonomia(B);not provided(B) 8/22/2017 -12.3 0.333333333 BLB 3 364581 Simple 111936933 T . CI 1 3 Familial dysautonomia(US);not specified(LB);Familial dysautonomia(B) 10/23/2017 -9.3 0.666666667 BLB 3 364614 Simple 199832657 T . CI 1 3 "Congenital Myasthenic Syndrome, Recessive(US);not specified(B);Pena-Shokeir syndrome type I(B);Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency(B)" 12/11/2017 -12.3 0.666666667 BLB 3 365018 Simple 367823841 G . CI 1 3 "Charcot-Marie-Tooth, Type 2(US);Charcot-Marie-Tooth disease type 2P(B);not specified(LB)" 6/1/2017 -9.3 1 BLB 3 365032 Simple 147734401 T . CI 1 3 "Charcot-Marie-Tooth, Type 2(US);not specified(LB);Charcot-Marie-Tooth disease type 2P(B)" 9/23/2017 -9.3 0.333333333 BLB 3 365052 Simple 370249358 T . CI 1 5 "Early Infantile Epileptic Encephalopathy, Autosomal Dominant(US);not specified(B);not specified(US);not specified(LB);Early infantile epileptic encephalopathy(LB)" 12/20/2017 -12.6 0.6 BLB 3 365196 Simple 28365522 T . CI 1 3 Congenital disorder of glycosylation(US);not specified(LB);Congenital disorder of glycosylation type 1M(B) 7/19/2017 -9.3 0.666666667 BLB 3 365260 Simple 199751308 G . CI 1 4 Citrullinemia type I(US);not provided(LP);not specified(LP);Citrullinemia type I(LP) 12/28/2017 8.7 0.75 PLP 3 365342 Simple 34000644 A . CI 1 4 "Ataxia with Oculomotor Apraxia(LB);Amyotrophic Lateral Sclerosis, Dominant(LB);not specified(US);Amyotrophic lateral sclerosis type 4(B);Spinocerebellar ataxia autosomal recessive 1(B)" 5/8/2017 -12.3 1 BLB 3 365376 Simple 145438764 C . CI 1 6 "Ataxia with Oculomotor Apraxia(LB);Amyotrophic Lateral Sclerosis, Dominant(LB);not specified(US);not specified(US);not specified(LB);Amyotrophic lateral sclerosis type 4(LB);Spinocerebellar ataxia autosomal recessive 1(LB)" 12/17/2017 -12.57 1 BLB 3 365514 Simple 5901000 AAAAAA . CI 1 4 Focal cortical dysplasia type II(US);Tuberous sclerosis syndrome(US);Tuberous sclerosis 1(B);not provided(B) 7/17/2017 -12 1 BLB 3 365719 Simple 376248130 G . CI 1 4 "Ehlers-Danlos syndrome, type 7A(US);not specified(B);Cardiovascular phenotype(LB);Ehlers-Danlos syndrome, classic type(LB)" 10/1/2017 -11.7 1 BLB 3 366732 Simple 45537335 G . CI 1 5 "Fanconi anemia(US);Amyotrophic Lateral Sclerosis, Dominant(LB);Inclusion Body Myopathy, Dominant(LB);not specified(LB);Fanconi anemia(B)" 12/2/2016 -15 1.2 BLB 3 366760 Simple 148186264 A . CI 1 3 Hyperphosphatasia-intellectual disability syndrome(US);not specified(LB);Hyperphosphatasia with mental retardation syndrome 2(B) 12/22/2017 -9.3 0.333333333 BLB 3 366995 Simple 75411647 G . CI 1 3 "Hyper-IgE syndrome(US);not specified(LB);Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive(B)" 8/11/2017 -9.3 0.666666667 BLB 3 367094 Simple 145573166 G . CI 1 3 "Hyper-IgE syndrome(US);not specified(LB);Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive(B)" 11/12/2017 -9.3 0.333333333 BLB 3 367173 Simple 73639325 C . CI 1 4 Non-ketotic hyperglycinemia(US);not provided(LB);not specified(B);Non-ketotic hyperglycinemia(B) 12/11/2017 -15.3 0.5 BLB 3 367788 Simple 752321157 A . CI 1 4 Danon disease(US);Hypertrophic cardiomyopathy(US);not specified(LB);Danon disease(B) 9/22/2017 -9.6 0.75 BLB 3 371439 Simple 80338671 C . CI 1 4 "Glycogen storage disease, type IV(LP);not specified(US);Glycogen storage disease, type IV(P);Glycogen storage disease, type IV(LP);Glycogen storage disease IV, classic hepatic(LP)" 6/29/2017 11.1 0.75 PLP 3 373258 Simple 58806616 G . CI 1 3 not specified(US);Alstrom syndrome(LB);not specified(B) 11/6/2017 -9.3 0.666666667 BLB 3 374451 Simple 564626031 - . CI 1 2 "Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss(B);not specified(LB)" 1/18/2018 -9 0.5 BLB 3 374493 Simple 199599204 A . CI 1 2 not provided(LB);not specified(B) 2/12/2018 -9 0.5 BLB 3 374508 Simple 201446579 G . CI 1 2 not specified(LB);Alstrom syndrome(B) 11/27/2017 -9 0 BLB 3 374522 Simple 75288466 A . CI 1 2 not specified(B);not specified(LB) 12/26/2017 -9 0.5 BLB 3 374538 Simple 56398830 A . CI 1 2 not specified(LB);not specified(B) 2/10/2017 -8.7 1.5 BLB 3 374622 Simple 141674976 A . CI 1 3 not specified(B);Mowat-Wilson syndrome(LB);not specified(US) 5/23/2017 -8.7 1.333333333 BLB 3 374635 Simple 79901179 G . CI 1 3 not specified(LB);not provided(LB);Giant axonal neuropathy(B) 12/22/2017 -12 0 BLB 3 374666 Simple 117914586 G . CI 1 2 "not specified(LB);Interstitial lung and liver disease(B);Charcot-Marie-Tooth disease, axonal, type 2u(B)" 2/16/2018 -9 0 BLB 3 374733 Simple 2276263 A . CI 1 2 ALG9 congenital disorder of glycosylation(B);not specified(B) 4/25/2017 -12 1 BLB 3 374745 Simple 769406687 T . CI 1 2 "not specified(LB);Early infantile epileptic encephalopathy 14(B);Epilepsy, nocturnal frontal lobe, 5(B)" 5/1/2017 -9 1 BLB 3 375846 Simple 72646509 A . CI 1 3 "Hypercholesterolemia, autosomal dominant, 3(US);Hypercholesterolemia, autosomal dominant, 3(LB);not provided(B)" 1/17/2018 -9.3 0.666666667 BLB 3 375852 Simple 28362277 C . CI 1 4 "Hypercholesterolemia, autosomal dominant, 3(LB);Familial hypercholesterolemia(US);Hypercholesterolemia, autosomal dominant, 3(B);not provided(B)" 10/9/2017 -14.67 1.25 BLB 3 375881 Simple 147001633 T . CI 1 3 not provided(P);Tatton-Brown-rahman syndrome(US);Inborn genetic diseases(P) 10/19/2017 11.7 0 PLP 3 377573 Simple 750905289 C . CI 1 4 not specified(LB);Hereditary breast and ovarian cancer syndrome(LB);Hereditary cancer-predisposing syndrome(LB);not provided(US) 11/28/2017 -9.3 0.75 BLB 3 377641 Simple 202115589 C . CI 1 4 not specified(LB);Hereditary diffuse gastric cancer(US);Hereditary cancer-predisposing syndrome(LB);Hereditary cancer-predisposing syndrome(LB) 11/16/2017 -9 1 BLB 3 377718 Simple 199727625 G . CI 1 4 "not specified(B);Ehlers-Danlos syndrome, type 4(US);not provided(US);Cardiovascular phenotype(LB)" 8/8/2017 -9.6 0.75 BLB 3 378095 Simple 150806357 A . CI 1 3 not specified(LB);not specified(US);Majeed syndrome(B) 12/27/2017 -9.3 0.333333333 BLB 3 378115 Simple 147455836 G . CI 1 2 "not specified(LB);Mental retardation, autosomal dominant 1(B)" 2/5/2018 -9 0 BLB 3 378378 Simple 77134982 A . CI 1 2 "not specified(LB);Distal spinal muscular atrophy, autosomal recessive 4(B);Charcot-Marie-Tooth disease, recessive intermediate c(B)" 12/22/2017 -9 0 BLB 3 378735 Simple 200900510 T . CI 1 2 not specified(LB);TNF receptor-associated periodic fever syndrome (TRAPS)(B) 8/28/2017 -9 0 BLB 3 379629 Simple 144158934 G . CI 1 4 not specified(B);Long QT syndrome(B);Cardiovascular phenotype(LB);Long QT syndrome(US) 11/2/2017 -15.3 0.25 BLB 3 379658 Simple 189557655 T . CI 1 4 "not specified(US);not specified(LB);Ehlers-Danlos syndrome, classic type(B);Osteogenesis imperfecta type I(B);not specified(US)" 9/8/2017 -9.6 0.75 BLB 3 380142 Simple 45516107 A . CI 1 4 not specified(LB);not provided(US);ALG9 congenital disorder of glycosylation(B);not specified(B) 12/8/2017 -15.3 0.5 BLB 3 380323 Simple 754270436 T . CI 1 3 not specified(B);Hereditary cancer-predisposing syndrome(US);Hereditary cancer-predisposing syndrome(LB) 4/11/2017 -8.4 1.666666667 BLB 3 380553 Simple 113808165 A . CI 1 2 "not specified(LB);Interstitial lung and liver disease(B);Charcot-Marie-Tooth disease, axonal, type 2u(B)" 2/1/2018 -9 0 BLB 3 380569 Simple 140280672 T . CI 1 2 "not specified(LB);Encephalopathy, acute, infection-induced, 3, suceptibility to(B)" 8/26/2017 -8.7 1 BLB 3 381211 Simple 147438064 A . CI 1 2 "not specified(LB);Ehlers-Danlos syndrome, type vii, autosomal recessive(B)" 1/26/2018 -9 0 BLB 3 381364 Simple 139949679 T . CI 1 4 not specified(LB);not specified(US);Colorectal cancer 10(LB);Hereditary cancer-predisposing syndrome(LB) 1/12/2018 -9 0.75 BLB 3 381583 Simple 199886234 T . CI 1 4 "not specified(LB);not specified(US);not specified(B);Episodic ataxia type 2(B);Epileptic encephalopathy, early infantile, 42(B)" 12/11/2017 -15.3 0.5 BLB 3 382040 Simple 138321172 G . CI 1 2 "not specified(LB);Charcot-Marie-Tooth disease, X-linked dominant, 6(B)" 12/11/2017 -8.7 1 BLB 3 382306 Simple 876660891 G . CI 1 5 "not specified(LB);Familial cancer of breast(LB);Fanconi anemia, complementation group J(LB);not specified(US);Hereditary cancer-predisposing syndrome(LB);Hereditary cancer-predisposing syndrome(LB)" 8/8/2017 -11.7 1.2 BLB 3 382924 Simple 142190930 C . CI 1 3 "not specified(LB);not specified(US);Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8(B)" 11/28/2017 -9.3 0.333333333 BLB 3 383199 Simple 372365378 G . CI 1 4 not specified(LB);Familial adenomatous polyposis 1(US);Hereditary cancer-predisposing syndrome(LB);Hereditary cancer-predisposing syndrome(LB) 9/6/2017 -8.4 1.25 BLB 3 383215 Simple 149403824 G . CI 1 3 "not specified(LB);not specified(US);Muscular dystrophy, congenital, due to integrin alpha-7 deficiency(B)" 12/12/2017 -9.3 0.666666667 BLB 3 383934 Simple 745838504 G . CI 1 4 "not specified(LB);Colorectal cancer, susceptibility to, 12(LB);not specified(US);Hereditary cancer-predisposing syndrome(LB)" 12/3/2017 -9 0.75 BLB 3 384812 Simple 1801703 T . CI 1 5 "not specified(B);Hypercholesterolemia, autosomal dominant, type B(B);Hypobetalipoproteinemia, familial, 1(B);Familial hypercholesterolemia(US);Familial hypercholesterolemia(US);Familial hypercholesterolemia(LB)" 1/12/2018 -15.54 1 BLB 3 385077 Simple 200279483 G . CI 1 3 "not specified(LB);not specified(B);Charcot-Marie-Tooth disease, type 2(LB)" 9/28/2017 -12 0.666666667 BLB 3 385198 Simple 776167760 C . CI 1 4 not specified(LB);Colorectal cancer 10(LB);not specified(US);Hereditary cancer-predisposing syndrome(LB) 11/15/2017 -8.7 1 BLB 3 386386 Simple 75914945 T . CI 1 3 "not specified(LB);not specified(B);Epilepsy, childhood absence 1(LB);Epilepsy, childhood absence 5(LB)" 8/22/2017 -12 0.333333333 BLB 3 387376 Simple 773490152 A . CI 1 4 not specified(LB);Hereditary cutaneous melanoma(LB);not specified(US);Hereditary cancer-predisposing syndrome(LB) 1/17/2017 -9 1.25 BLB 3 387904 Simple 114044880 A . CI 1 3 not specified(US);Osteogenesis imperfecta type 8(B);not specified(B) 8/10/2017 -12.3 0 BLB 3 388555 Simple 990650403 G . CI 1 4 not specified(LB);Hereditary nonpolyposis colon cancer(US);Hereditary cancer-predisposing syndrome(LB);Hereditary cancer-predisposing syndrome(LB) 10/13/2017 -8.7 1 BLB 3 389495 Simple 369562243 T . CI 1 3 "not specified(LB);Early infantile epileptic encephalopathy 14(US);Epilepsy, nocturnal frontal lobe, 5(US);not specified(B)" 11/16/2017 -9.3 0.333333333 BLB 3 389984 Simple 200943828 A . CI 1 3 not specified(LB);Tuberous sclerosis 2(B);Hereditary cancer-predisposing syndrome(US) 11/16/2017 -9.3 0.333333333 BLB 3 391015 Simple 759019419 T . CI 1 4 not specified(LB);Colorectal cancer 10(B);not specified(US);Hereditary cancer-predisposing syndrome(LB) 11/6/2017 -12 0.75 BLB 3 391473 Simple 370462886 G . CI 1 4 not specified(LB);Hereditary nonpolyposis colon cancer(US);Hereditary cancer-predisposing syndrome(LB);Hereditary cancer-predisposing syndrome(LB) 10/26/2017 -9 0.75 BLB 3 402379 Simple 72654409 T . CI 1 4 "not specified(US);Familial hypercholesterolemia(US);Hypercholesterolemia, autosomal dominant, type B(B);Hypobetalipoproteinemia, familial, 1(B);not specified(B)" 12/3/2017 -12.57 0.75 BLB 3 406663 Simple 1060501244 A . CI 1 3 Hereditary diffuse gastric cancer(US);Hereditary cancer-predisposing syndrome(P);Hereditary cancer-predisposing syndrome(LP) 9/19/2017 8.7 0.333333333 PLP 3 409695 Simple 199988497 T . CI 1 4 "Aortic aneurysm, familial thoracic 7(B);not specified(LB);not specified(US);Cardiovascular phenotype(LB)" 6/8/2017 -12.3 0.75 BLB 3 411210 Simple 770653972 A . CI 1 3 Tuberous sclerosis 1(B);Hereditary cancer-predisposing syndrome(US);not specified(LB) 3/8/2018 -9.3 0.333333333 BLB 3 413425 Simple 79129097 C . CI 1 3 "Aortic aneurysm, familial thoracic 4(B);not specified(US);not specified(LB)" 8/15/2017 -9.3 0.666666667 BLB 3 413910 Simple 144158469 T . CI 1 3 Gorlin syndrome(B);Medulloblastoma(B);not specified(US);Hereditary cancer-predisposing syndrome(LB) 9/28/2017 -9.3 0.666666667 BLB 3 414028 Simple 786202546 G . CI 1 4 Li-Fraumeni syndrome(LB);not specified(US);Hereditary cancer-predisposing syndrome(LB);Hereditary cancer-predisposing syndrome(LB) 10/12/2017 -9 1 BLB 3 414709 Simple 150547487 C . CI 1 4 Fanconi anemia(B);not specified(US);not specified(LB);not specified(US) 11/1/2017 -9.3 1 BLB 3 415571 Simple 1060504568 C . CI 1 4 Hereditary breast and ovarian cancer syndrome(LB);not specified(US);Hereditary cancer-predisposing syndrome(LB);not specified(LB) 6/2/2017 -9.3 0.75 BLB 3 424982 Simple 2234462 T . CI 1 4 Autosomal recessive cutis laxa type 1B(B);not provided(B);not specified(LB);Autosomal recessive cutis laxa type 1B(LB) 12/20/2017 -18 0.25 BLB 3 425022 Simple 147806951 A . CI 1 3 "Colorectal cancer, susceptibility to, 12(LB);Hereditary cancer-predisposing syndrome(LB);not specified(LB)" 2/15/2018 -8.7 0.666666667 BLB 3 425119 Simple 146872023 C . CI 1 2 "Ataxia, spastic, 2, autosomal recessive(B);not specified(LB)" 2/13/2018 -9 0.5 BLB 3 426983 Simple 746882521 C . CI 1 3 not provided(P);Multiple congenital anomalies-hypotonia-seizures syndrome 1(US);Inborn genetic diseases(LP) 12/6/2017 8.7 0.333333333 PLP 3 431884 Simple 140526335 G . CI 1 3 not specified(US);not specified(LB);not specified(B) 6/9/2017 -9.3 0.333333333 BLB 3 431946 Simple 61738394 T . CI 1 3 not specified(US);Tyrosinase-positive oculocutaneous albinism(LP);Tyrosinase-positive oculocutaneous albinism(P) 6/20/2017 8.7 0.666666667 PLP 3 431981 Simple 528897827 . . CI 1 4 not specified(US);not provided(LB);Treacher Collins syndrome 1(LB);not specified(LB) 6/15/2017 -9.3 0.75 BLB 3 440168 Simple 147980436 T . CI 1 4 "not specified(LB);Ehlers-Danlos syndrome, hydroxylysine-deficient(US);not specified(LB);Cardiovascular phenotype(LB)" 1/22/2018 -9 0.75 BLB 3 444765 Simple 188154081 T . CI 1 2 "Epidermolysa bullosa simplex and limb girdle muscular dystrophy(B);Epidermolysis bullosa simplex, Ogna type(B);Epidermolysis bullosa simplex with pyloric atresia(B);Limb-girdle muscular dystrophy, type 2Q(B);Epidermolysis bullosa simplex with nail dystrophy(B);not specified(LB)" 12/26/2017 -9 0.5 BLB 3 445377 Simple 192489748 A . CI 1 3 "not provided(US);Ataxia, spastic, 2, autosomal recessive(B);not specified(LB)" 11/17/2017 -9.3 0 BLB 3 447626 Simple 200532657 T . CI 1 3 not specified(B);not specified(US);Spinocerebellar ataxia 19(B) 12/21/2017 -12.3 0.333333333 BLB 3 449103 Simple 181639116 G . CI 1 4 not specified(US);Netherton syndrome(B);Netherton syndrome(LB);Netherton syndrome(LB) 12/29/2017 -11.7 1 BLB 3 470120 Simple . A . CI 1 4 Familial adenomatous polyposis 1(LB);Hereditary cancer-predisposing syndrome(US);Hereditary cancer-predisposing syndrome(LB);not specified(LB) 12/29/2017 -9.3 0.25 BLB 3 475112 Simple 116916706 A . CI 1 3 "Melanoma, cutaneous malignant, susceptibility to, 10(B);Hereditary cancer-predisposing syndrome(US);not specified(LB)" 1/19/2018 -9.3 0.333333333 BLB 3