VID CVVT RSID CVMA vcfmatch CVCS CVSZ CVNA CVDS CVLE CTRS CTAA CTPS CTRR 36641 Simple 141764279 T . US 3 8 Primary familial hypertrophic cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype 12/15/2016 -9.78 1.625 BLB 3 38183 Simple 81002812 A . US 3 7 "Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome" 4/15/2016 27.87 1.428571429 P 3 41593 Simple 142254875 T . US 3 5 Lynch syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 9/5/2013 -9.831 1 BLB 3 41646 Simple 41295288 G . US 3 4 "Lynch syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Colorectal cancer, non-polyposis;Hereditary nonpolyposis colon cancer" 9/5/2013 -14.031 1.75 BLB 3 41651 Simple 34136999 T . US 3 7 "Lynch syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Colorectal cancer, non-polyposis;Hereditary nonpolyposis colon cancer" 9/5/2013 -15.531 0.857142857 BLB 3 41701 Simple 63750685 C . US 3 6 Lynch syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 9/5/2013 -20.301 2.666666667 BLB 3 42900 Simple 376754645 T . US 3 15 "Familial hypertrophic cardiomyopathy 1;Myosin storage myopathy;Primary familial hypertrophic cardiomyopathy;Myopathy, distal, 1;not specified;Hypertrophic cardiomyopathy;Scapuloperoneal myopathy;Left ventricular noncompaction cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant" 12/15/2016 -23.58 1.333333333 BLB 3 42965 Simple 397516187 T . US 3 4 Primary dilated cardiomyopathy;Primary familial hypertrophic cardiomyopathy;not specified;not provided 12/15/2016 9.27 2.5 PLP 3 43082 Simple 187073962 G . US 3 11 "Myosin storage myopathy;Myopathy, distal, 1;not specified;Hypertrophic cardiomyopathy;Scapuloperoneal myopathy;Left ventricular noncompaction cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant" 12/15/2016 -22.02 1.545454545 BLB 3 89172 Simple 587779204 C . US 3 6 Lynch syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 9/5/2013 11.169 0.833333333 PLP 3 89180 Simple 34014629 T . US 3 5 Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 9/5/2013 -9.501 1.2 BLB 3 89216 Simple 63749893 T . US 3 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 9/5/2013 -8.931 1.75 BLB 3 89231 Simple 63749886 T . US 3 7 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 9/5/2013 -22.731 1.714285714 BLB 3 89263 Simple 63751305 T . US 3 6 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 9/5/2013 -15.831 2.333333333 BLB 3 89280 Simple 267608071 C . US 3 5 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 9/5/2013 -12.231 1.2 BLB 3 89357 Simple 63750617 T . US 3 6 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 9/5/2013 17.769 0.833333333 P 3 89395 Simple 398123231 T . US 3 4 Lynch syndrome;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 9/5/2013 -8.631 1.75 BLB 3 89402 Simple 63749834 C . US 3 5 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 9/5/2013 -13.731 2.2 BLB 3 89477 Simple 2229018 A . US 3 5 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 9/5/2013 -14.031 2 BLB 3 89499 Simple 587779302 AACTAAACTA . US 3 5 Lynch syndrome;Hereditary cancer-predisposing syndrome 9/5/2013 -10.731 2.4 BLB 3 89500 Simple 267608132 - . US 3 9 Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 9/5/2013 -25.341 2.111111111 B 3 89540 Simple 63750664 T . US 3 7 Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Colorectal / endometrial cancer;Hereditary nonpolyposis colon cancer 9/5/2013 -16.701 1.714285714 BLB 3 89552 Simple 41557217 C . US 3 6 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 9/5/2013 -20.031 1.5 BLB 3 89562 Simple 267608026 T . US 3 8 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 9/5/2013 -12.771 1.5 BLB 3 89589 Simple 587779001 A . US 3 3 Lynch syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 9/5/2013 11.769 2 PLP 3 89590 Simple 56198082 G . US 3 5 Lynch syndrome;not specified 9/5/2013 -12.801 1.6 BLB 3 89690 Simple 63750791 T . US 3 5 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 9/5/2013 -17.931 1.6 BLB 3 89705 Simple 63750527 C . US 3 7 Lynch syndrome II;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 9/5/2013 -10.101 1.142857143 BLB 3 89741 Simple 587778916 C . US 3 4 Lynch syndrome;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 9/5/2013 -8.631 1.75 BLB 3 89903 Simple 35001569 G . US 3 7 Lynch syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 9/5/2013 -21.831 2.142857143 BLB 3 90010 Simple 63749867 T . US 3 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 9/5/2013 -8.931 1.5 BLB 3 90082 Simple 566928243 A . US 3 7 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 9/5/2013 -10.401 1.285714286 BLB 3 90099 Simple 267607893 G . US 3 3 Lynch syndrome;not provided 9/5/2013 8.469 2.333333333 PLP 3 90126 Simple 41295282 G . US 3 5 Lynch syndrome II;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 9/5/2013 -12.501 1.6 BLB 3 90178 Simple 63750781 G . US 3 4 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 9/5/2013 11.769 1.75 PLP 3 90211 Simple 72481822 A . US 3 3 Lynch syndrome;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 9/5/2013 8.769 1.666666667 PLP 3 90303 Simple 4986984 T . US 3 5 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 9/5/2013 -14.631 1.2 BLB 3 90306 Simple 41295280 C . US 3 6 Lynch syndrome II;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 9/5/2013 -10.101 1.166666667 BLB 3 90418 Simple 267607804 - . US 3 6 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 9/5/2013 -23.331 2.666666667 BLB 3 90445 Simple 63749896 T . US 3 5 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 9/5/2013 -11.931 1.4 BLB 3 90589 Simple 63751650 G . US 3 6 Lynch syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 9/5/2013 -10.101 1.5 BLB 3 90698 Simple 63750330 C . US 3 7 Lynch syndrome I;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 9/5/2013 -21.531 2.142857143 BLB 3 90965 Simple 201298777 G . US 3 8 Lynch syndrome I;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 9/5/2013 -16.701 2 BLB 3 91028 Simple 63751469 T . US 3 3 Lynch syndrome I;not provided;Hereditary cancer-predisposing syndrome 10/28/2015 8.703 0.666666667 PLP 3 91030 Simple 63750084 - . US 3 4 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 10/28/2015 15.303 2 P 3 91033 Simple 63750808 T . US 3 3 Lynch syndrome I;not provided;Hereditary cancer-predisposing syndrome 10/28/2015 8.403 1.333333333 PLP 3 91045 Simple 551060742 T . US 3 8 Lynch syndrome I;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 10/28/2015 -10.767 0.875 BLB 3 91051 Simple 150259097 A . US 3 6 Lynch syndrome I;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 9/5/2013 -17.031 2 BLB 3 91097 Simple 63750124 G . US 3 7 "Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Colorectal cancer, non-polyposis;Hereditary nonpolyposis colon cancer" 9/5/2013 -10.431 1 BLB 3 91098 Simple 587779161 C . US 3 4 Lynch syndrome I;Lynch syndrome;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 9/5/2013 -8.931 2 BLB 3 91112 Simple 63750255 C . US 3 5 "Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Colorectal cancer, non-polyposis;Hereditary nonpolyposis colon cancer" 9/5/2013 -15.231 1 BLB 3 91200 Simple 587779180 C . US 3 5 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 9/5/2013 -11.931 1.6 BLB 3 91248 Simple 587779196 - . US 3 3 Lynch syndrome;not specified 9/5/2013 -8.931 2.333333333 BLB 3 91323 Simple 587779333 C . US 3 7 Lynch syndrome I;Hereditary nonpolyposis colorectal cancer type 4;Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 9/5/2013 32.769 0.714285714 P 3 91328 Simple 267608161 T . US 3 5 Lynch syndrome I;Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 9/5/2013 17.769 1 P 3 91330 Simple 587779335 - . US 3 5 Lynch syndrome I;Turcot syndrome;Lynch syndrome;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 11/24/2015 11.103 1.2 PLP 3 35616 Simple 137852676 T . PLP 2 2 Permanent neonatal diabetes mellitus;Persistent hyperinsulinemic hypoglycemia of infancy;Familial hyperinsulinism 6/7/2014 3.9 4.5 US 3