DSP — 5817 ClinVar variants

Pathogenic 471

Showing the top 300 by review status; the full set is in the sitemap.

• p.Arg105Ter Multiple submitters arrhythmogenic right ventricular dysplasia 8
• p.Arg1113fs Multiple submitters arrhythmogenic right ventricular dysplasia 8
• p.Arg1173fs Multiple submitters Cardiovascular phenotype
• p.Arg1247Ter Multiple submitters arrhythmogenic right ventricular dysplasia 8
• p.Arg150Ter Multiple submitters cardiomyopathy
• p.Arg1738Ter Multiple submitters Cardiovascular phenotype
• p.Arg2394fs Multiple submitters arrhythmogenic right ventricular cardiomyopathy
• p.Arg2586Ter Multiple submitters arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Arg270Ter Multiple submitters Cardiovascular phenotype
• p.Arg451Gly Multiple submitters arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Arg84Ter Multiple submitters Cardiovascular phenotype
• p.Asn1234fs Multiple submitters Cardiovascular phenotype
• p.Asn1865fs Multiple submitters arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Asn2171fs Multiple submitters Cardiovascular phenotype
• p.Asn257fs Multiple submitters arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Asn274fs Multiple submitters arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Asn956_Ser957insTer Multiple submitters arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Asp1248fs Multiple submitters Cardiovascular phenotype
• p.Asp2117fs Multiple submitters Cardiovascular phenotype
• p.Asp2157fs Multiple submitters arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Cys191fs Multiple submitters arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Cys81_Arg84delinsTer Multiple submitters arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Gln1071Ter Multiple submitters Cardiovascular phenotype
• p.Gln113Ter Multiple submitters arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Gln1179Ter Multiple submitters Cardiovascular phenotype
• p.Gln1262Ter Multiple submitters arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Gln1286Ter Multiple submitters arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Gln1311fs Multiple submitters cardiomyopathy
• p.Gln1511Ter Multiple submitters Cardiovascular phenotype
• p.Gln1567Ter Multiple submitters arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Gln1608Ter Multiple submitters arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Gln1672Ter Multiple submitters Cardiovascular phenotype
• p.Gln1767Ter Multiple submitters cardiomyopathy
• p.Gln1810Ter Multiple submitters Cardiovascular phenotype
• p.Gln1925fs Multiple submitters arrhythmogenic right ventricular dysplasia 8
• p.Gln2085Ter Multiple submitters Cardiovascular phenotype
• p.Gln216fs Multiple submitters Cardiovascular phenotype
• p.Gln2185Ter Multiple submitters cardiomyopathy
• p.Gln250Ter Multiple submitters arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Gln2672fs Multiple submitters arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Gln2672Ter Multiple submitters arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Gln271Ter Multiple submitters Cardiovascular phenotype
• p.Gln309Ter Multiple submitters arrhythmogenic right ventricular dysplasia 8
• p.Gln331Ter Multiple submitters Cardiovascular phenotype
• p.Gln363Ter Multiple submitters Cardiovascular phenotype
• p.Gln412Ter Multiple submitters arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Gln51Ter Multiple submitters arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Gln528Ter Multiple submitters Cardiovascular phenotype
• p.Gln633Ter Multiple submitters arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Gln873fs Multiple submitters Cardiovascular phenotype
• p.Gln873Ter Multiple submitters Cardiovascular phenotype
• p.Gln884fs Multiple submitters Cardiovascular phenotype
• p.Gln909Ter Multiple submitters arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Gln948fs Multiple submitters arrhythmogenic right ventricular dysplasia 8
• p.Glu1159fs Multiple submitters Cardiovascular phenotype
• p.Glu1213fs Multiple submitters cardiomyopathy
• p.Glu1283_Ile1284insTer Multiple submitters arrhythmogenic right ventricular dysplasia 8
• p.Glu1304fs Multiple submitters arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Glu1876fs Multiple submitters arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Glu2403fs Multiple submitters arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Glu348Ter Multiple submitters Cardiovascular phenotype
• p.Glu374fs Multiple submitters arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Glu882Ter Multiple submitters arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.His586fs Multiple submitters arrhythmogenic right ventricular dysplasia 8
• p.Ile156fs Multiple submitters cardiomyopathy
• p.Ile428fs Multiple submitters Cardiovascular phenotype
• p.Leu1619fs Multiple submitters arrhythmogenic right ventricular dysplasia 8
• p.Leu2031fs Multiple submitters Cardiovascular phenotype
• p.Leu354fs Multiple submitters cardiomyopathy
• p.Leu411fs Multiple submitters arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Leu784Ter Multiple submitters Cardiovascular phenotype
• p.Leu902_Tyr903insTer Multiple submitters arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Leu975fs Multiple submitters Cardiovascular phenotype
• p.Lys1054fs Multiple submitters arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Lys1310Ter Multiple submitters arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Lys1916Ter Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia
• p.Lys2523fs Multiple submitters arrhythmogenic right ventricular dysplasia 8
• p.Lys2542fs Multiple submitters arrhythmogenic right ventricular dysplasia 8
• p.Lys2693fs Multiple submitters cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
• p.Lys308fs Multiple submitters Cardiovascular phenotype
• p.Met729fs Multiple submitters arrhythmogenic right ventricular dysplasia 8
• p.Phe2172fs Multiple submitters Cardiovascular phenotype
• p.Phe382fs Multiple submitters Cardiovascular phenotype
• p.Ser1303fs Multiple submitters arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Ser1814fs Multiple submitters Cardiovascular phenotype
• p.Ser1888fs Multiple submitters arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Thr2625fs Multiple submitters arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Thr388fs Multiple submitters arrhythmogenic right ventricular dysplasia 8
• p.Thr564Ile Multiple submitters arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Trp207Ter Multiple submitters arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Trp360Ter Multiple submitters arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Trp537fs Multiple submitters arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Trp879Ter Multiple submitters Cardiovascular phenotype
• p.Tyr1065Ter Multiple submitters Cardiovascular phenotype
• p.Tyr1139fs Multiple submitters arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Tyr2159fs Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia
• p.Tyr619Ter Multiple submitters Cardiovascular phenotype
• p.Val2107fs Multiple submitters Cardiovascular phenotype
• p.Val2134fs Multiple submitters arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• c.169_170+13del Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• c.2131_2132delAG Single submitter Cardiovascular phenotype
• c.5380-1G>A Single submitter arrhythmogenic right ventricular cardiomyopathy
• c.5671_*1792delinsAGAGAAGAACAGTCTT Single submitter arrhythmogenic right ventricular dysplasia 8
• c.6060_6061insALU Single submitter Cardiovascular phenotype
• c.939+1del Single submitter arrhythmogenic right ventricular dysplasia 8
• c.939+1G>T Single submitter arrhythmogenic right ventricular dysplasia 8
• c.939+2T>C Single submitter arrhythmogenic right ventricular dysplasia 8
• p.? Single submitter
• p.Ala1077fs Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Ala114fs Single submitter Cardiovascular phenotype
• p.Ala1193_Lys1194insAlaGlyArgGlyGlySerArgLeuTer Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Ala1584fs Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Ala1688fs Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Ala1845fs Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Ala2088fs Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Ala311fs Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Arg1015fs Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Arg1042fs Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Arg1131fs Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Arg1207fs Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Arg129fs Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Arg1352Ter Single submitter
• p.Arg1411fs Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Arg1452fs Single submitter Cardiovascular phenotype
• p.Arg1464fs Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Arg1579_Leu1580insTer Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Arg1628fs Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Arg1797fs Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Arg1848fs Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Arg1943fs Single submitter Cardiovascular phenotype
• p.Arg1945fs Single submitter cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
• p.Arg2118fs Single submitter
• p.Arg2214fs Single submitter cardiomyopathy
• p.Arg2465fs Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Arg2548Ter Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Arg265fs Single submitter arrhythmogenic right ventricular cardiomyopathy
• p.Arg2725fs Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Arg2752fs Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Arg315fs Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Arg561fs Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Arg64fs Single submitter Cardiovascular phenotype
• p.Arg771fs Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Asn1237fs Single submitter Cardiovascular phenotype
• p.Asn1354_Tyr1355insTer Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Asn1518fs Single submitter cardiomyopathy
• p.Asn1526fs Single submitter Cardiovascular phenotype
• p.Asn1526Ter Single submitter cardiomyopathy
• p.Asn1712fs Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Asn2114fs Single submitter Cardiovascular phenotype
• p.Asn2419fs Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Asn440fs Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Asn488fs Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Asn543fs Single submitter Cardiovascular phenotype
• p.Asn690fs Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Asn928fs Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Asp1098Ter Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Asp1130fs Single submitter
• p.Asp1140fs Single submitter
• p.Asp1471fs Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Asp2097Ter Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Asp2167fs Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Asp2580fs Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Asp2681fs Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Asp2681Ter Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Asp480fs Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Asp54fs Single submitter Cardiovascular phenotype
• p.Asp604fs Single submitter Cardiovascular phenotype
• p.Asp648fs Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Asp728fs Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Asp865fs Single submitter Cardiovascular phenotype
• p.Cys110Ter Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Cys1148Ter Single submitter dilated cardiomyopathy
• p.Cys174Ter Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Cys2190fs Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Cys2442fs Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Cys367fs Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Cys405Ter Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Cys482fs Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Cys646Ter Single submitter Cardiovascular phenotype
• p.Gln100Ter Single submitter lethal acantholytic epidermolysis bullosa
• p.Gln1063fs Single submitter
• p.Gln1085Ter Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Gln1143fs Single submitter
• p.Gln1143Ter Single submitter Cardiovascular phenotype
• p.Gln1147Ter Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Gln1238Ter Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Gln1266Ter Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Gln1276Ter Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Gln1297Ter Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Gln1301Ter Single submitter
• p.Gln130Ter Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Gln1311Ter Single submitter Cardiovascular phenotype
• p.Gln1321Ter Single submitter
• p.Gln139fs Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Gln1418Ter Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Gln1442Ter Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Gln1446fs Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Gln1453Ter Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Gln1488Ter Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Gln1547fs Single submitter Cardiovascular phenotype
• p.Gln1560Ter Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Gln1618fs Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Gln1635fs Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Gln1651Ter Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Gln1677fs Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Gln1707fs Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Gln1830Ter Single submitter Cardiovascular phenotype
• p.Gln1851fs Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Gln1851Ter Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Gln1870Ter Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Gln1927Ter Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Gln1936Ter Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Gln1944Ter Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Gln2128Ter Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Gln2211Ter Single submitter Cardiovascular phenotype
• p.Gln234Ter Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Gln2457Ter Single submitter Cardiovascular phenotype
• p.Gln2531Ter Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Gln2556Ter Single submitter Cardiovascular phenotype
• p.Gln2654Ter Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Gln277Ter Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Gln309fs Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Gln335fs Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Gln396fs Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Gln412fs Single submitter Cardiovascular phenotype
• p.Gln417Ter Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Gln436fs Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Gln447Ter Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Gln471fs Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Gln473Ter Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Gln528fs Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Gln611Ter Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Gln616Ter Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Gln631fs Single submitter Cardiovascular phenotype
• p.Gln647Ter Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Gln66Ter Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Gln696fs Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Gln696Ter Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Gln717fs Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Gln72Ter Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Gln743Ter Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Gln775Ter Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Gln833Ter Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Gln837Ter Single submitter cardiomyopathy
• p.Gln841Ter Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Gln844Ter Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Gln845Ter Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Gln862fs Single submitter
• p.Gln868Ter Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Gln884Ter Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Gln964Ter Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Glu1068fs Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Glu1166fs Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Glu1168fs Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Glu1181Ter Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Glu1229fs Single submitter Cardiovascular phenotype
• p.Glu1304Ter Single submitter Cardiovascular phenotype
• p.Glu1314Ter Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Glu1401Ter Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Glu1407Ter Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Glu1484fs Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Glu1493fs Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Glu1493Ter Single submitter dilated cardiomyopathy
• p.Glu1671fs Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Glu1716fs Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Glu1716Ter Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Glu1785fs Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Glu1811Ter Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Glu1886fs Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Glu1891fs Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Glu1911Ter Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Glu1952fs Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Glu1982Ter Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Glu2109Ter Single submitter Cardiovascular phenotype
• p.Glu2188fs Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Glu2314Ter Single submitter
• p.Glu2324Ter Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Glu244fs Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Glu2500fs Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Glu2626fs Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Glu2715fs Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Glu2728fs Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Glu29Ter Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Glu325fs Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Glu420Ter Single submitter Cardiovascular phenotype
• p.Glu426Ter Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Glu430_Tyr431insTer Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Glu430fs Single submitter Cardiovascular phenotype
• p.Glu481Ter Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Glu584Ter Single submitter Cardiovascular phenotype
• p.Glu671Ter Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Glu680fs Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Glu721Ter Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Glu945fs Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Glu952Ter Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Glu973Ter Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Gly1600fs Single submitter cardiomyopathy
• p.Gly1737fs Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Gly2057fs Single submitter Cardiovascular phenotype
• p.Gly208fs Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Pathogenic/Likely pathogenic 115

• c.2130+1G>A Multiple submitters DSP-related disorder
• c.2131_2132del Multiple submitters cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
• c.2298-2A>C Multiple submitters arrhythmogenic right ventricular dysplasia 8
• c.273+1G>A Multiple submitters cardiomyopathy
• c.423-1G>T Multiple submitters arrhythmogenic right ventricular dysplasia 8
• c.5671_*835+957del4738insAGAACAGTCTT Multiple submitters arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• c.939+1G>A Multiple submitters Cardiovascular phenotype
• p.Ala2092fs Multiple submitters Cardiovascular phenotype
• p.Arg1045Ter Multiple submitters cardiac rhythm disease
• p.Arg1113Ter Multiple submitters Cardiovascular phenotype
• p.Arg1267Ter Multiple submitters Cardiovascular phenotype
• p.Arg1269Ter Multiple submitters cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
• p.Arg1400Ter Multiple submitters Cardiovascular phenotype
• p.Arg1458Ter Multiple submitters myocarditis
• p.Arg1506fs Multiple submitters arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Arg160Ter Multiple submitters Cardiovascular phenotype
• p.Arg1777fs Multiple submitters cardiomyopathy
• p.Arg1934Ter Multiple submitters lethal acantholytic epidermolysis bullosa
• p.Arg1951Ter Multiple submitters Cardiovascular phenotype
• p.Arg2151fs Multiple submitters arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Arg2156fs Multiple submitters arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Arg2160Ter Multiple submitters arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Arg2166Ter Multiple submitters Cardiovascular phenotype
• p.Arg2284Ter Multiple submitters Cardiovascular phenotype
• p.Arg2334Ter Multiple submitters arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Arg2366Cys Multiple submitters arrhythmogenic right ventricular dysplasia 8
• p.Arg2366His Multiple submitters Palmoplantar keratodermas
• p.Arg425Ter Multiple submitters Cardiovascular phenotype
• p.Arg941Ter Multiple submitters Cardiovascular phenotype
• p.Asn1346fs Multiple submitters arrhythmogenic right ventricular dysplasia 8
• p.Asn1526_Lys1527insTer Multiple submitters arrhythmogenic right ventricular dysplasia 8
• p.Asp1120fs Multiple submitters arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Asp2521fs Multiple submitters arrhythmogenic right ventricular dysplasia 8
• p.Asp352fs Multiple submitters Cardiovascular phenotype
• p.Cys2497_Glu2498delinsTer Multiple submitters Cardiovascular phenotype
• p.Cys2656fs Multiple submitters arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Cys289Ter Multiple submitters arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Gln1156Ter Multiple submitters Cardiovascular phenotype
• p.Gln1277Ter Multiple submitters arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Gln1289Ter Multiple submitters Cardiovascular phenotype
• p.Gln1335Ter Multiple submitters Cardiovascular phenotype
• p.Gln1394Ter Multiple submitters Cardiovascular phenotype
• p.Gln1433Ter Multiple submitters arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Gln1467fs Multiple submitters Cardiovascular phenotype
• p.Gln1667Ter Multiple submitters DSP-related disorder
• p.Gln1707Ter Multiple submitters DSP-related disorder
• p.Gln1757Ter Multiple submitters arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Gln175Ter Multiple submitters dilated cardiomyopathy
• p.Gln1925Ter Multiple submitters arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Gln2352Ter Multiple submitters arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Gln2724Ter Multiple submitters Cardiovascular phenotype
• p.Gln2730fs Multiple submitters Cardiovascular phenotype
• p.Gln307Ter Multiple submitters arrhythmogenic right ventricular cardiomyopathy
• p.Gln588Ter Multiple submitters DSP-related disorder
• p.Gln595Ter Multiple submitters Global developmental delay
• p.Gln609Ter Multiple submitters arrhythmogenic right ventricular dysplasia 8
• p.Gln625Ter Multiple submitters Cardiovascular phenotype
• p.Gln631Ter Multiple submitters arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Gln68Ter Multiple submitters arrhythmogenic right ventricular dysplasia 8
• p.Gln76Ter Multiple submitters dilated cardiomyopathy
• p.Gln90Ter Multiple submitters Cardiovascular phenotype
• p.Gln994fs Multiple submitters Cardiovascular phenotype
• p.Glu1081Ter Multiple submitters keratosis palmoplantaris striata 2
• p.Glu1106Ter Multiple submitters cardiomyopathy
• p.Glu1191Ter Multiple submitters cardiomyopathy
• p.Glu1245fs Multiple submitters arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Glu1265Ter Multiple submitters arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Glu1337fs Multiple submitters Cardiovascular phenotype
• p.Glu1385fs Multiple submitters Cardiovascular phenotype
• p.Glu1461_Ser1462insTer Multiple submitters Cardiovascular phenotype
• p.Glu1597Ter Multiple submitters Cardiovascular phenotype
• p.Glu1652fs Multiple submitters cardiomyopathy
• p.Glu1776fs Multiple submitters arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Glu1813fs Multiple submitters arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Glu2431fs Multiple submitters arrhythmogenic right ventricular dysplasia 8
• p.Glu310fs Multiple submitters Cardiovascular phenotype
• p.Glu430Ter Multiple submitters arrhythmogenic right ventricular dysplasia 8
• p.Glu584fs Multiple submitters Cardiovascular phenotype
• p.Glu660fs Multiple submitters cardiomyopathy
• p.Glu92fs Multiple submitters dilated cardiomyopathy
• p.Gly2133fs Multiple submitters arrhythmogenic right ventricular dysplasia 8
• p.Gly2319fs Multiple submitters Cardiovascular phenotype
• p.Ile2359fs Multiple submitters arrhythmogenic right ventricular dysplasia 8
• p.Ile238fs Multiple submitters Cardiovascular phenotype
• p.Ile2641fs Multiple submitters cardiomyopathy
• p.Ile950fs Multiple submitters arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Leu1563fs Multiple submitters Cardiovascular phenotype
• p.Leu1709fs Multiple submitters arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Leu2153fs Multiple submitters arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Leu2405fs Multiple submitters cardiomyopathy
• p.Lys1410fs Multiple submitters arrhythmogenic right ventricular dysplasia 8
• p.Lys1593fs Multiple submitters cardiomyopathy
• p.Lys1626fs Multiple submitters arrhythmogenic right ventricular dysplasia 8
• p.Lys1996fs Multiple submitters arrhythmogenic right ventricular dysplasia 8
• p.Lys2356Ter Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia
• p.Lys2393fs Multiple submitters Cardiovascular phenotype
• p.Lys2458fs Multiple submitters cardiac rhythm disease
• p.Phe2416fs Multiple submitters arrhythmogenic right ventricular dysplasia 8
• p.Ser1894fs Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia
• p.Ser2406Ter Multiple submitters arrhythmogenic right ventricular dysplasia 8
• p.Ser2591fs Multiple submitters arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Thr1475fs Multiple submitters Cardiovascular phenotype
• p.Thr2104fs Multiple submitters cardiomyopathy
• p.Thr2524fs Multiple submitters cardiomyopathy
• p.Thr2634fs Multiple submitters arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Trp2717fs Multiple submitters Cardiovascular phenotype
• p.Tyr1210Ter Multiple submitters Cardiovascular phenotype
• p.Tyr1465Ter Multiple submitters arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Tyr1981fs Multiple submitters cardiomyopathy
• p.Tyr2490fs Multiple submitters cardiomyopathy
• p.Tyr2547Ter Multiple submitters arrhythmogenic right ventricular dysplasia 8
• p.Tyr41Ter Multiple submitters Cardiovascular phenotype
• p.Val1176fs Multiple submitters Cardiovascular phenotype
• p.Arg1537fs No assertion criteria
• p.Ile557fs No assertion criteria

Likely pathogenic 187

• c.1141-2A>G Multiple submitters arrhythmogenic right ventricular dysplasia 9
• c.1141-2A>T Multiple submitters arrhythmogenic right ventricular cardiomyopathy
• c.1266+2T>C Multiple submitters arrhythmogenic right ventricular dysplasia 8
• c.1574+1G>A Multiple submitters arrhythmogenic right ventricular dysplasia 8
• c.170+1G>A Multiple submitters Cardiovascular phenotype
• c.2131-3_2131del Multiple submitters cardiomyopathy
• c.2297+1G>A Multiple submitters arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• c.2298-1G>C Multiple submitters arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• c.2437-1G>C Multiple submitters Cardiovascular phenotype
• c.2793+1_2793+5delinsAACAAAAAG Multiple submitters cardiomyopathy
• c.2793+1G>T Multiple submitters arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• c.2877+2T>C Multiple submitters arrhythmogenic right ventricular dysplasia 8
• c.422+1G>A Multiple submitters arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• c.778-2A>G Multiple submitters Cardiovascular phenotype
• p.Gln2371Ter Multiple submitters cardiomyopathy
• p.Gln2480Ter Multiple submitters cardiomyopathy
• p.Gln380Ter Multiple submitters cardiomyopathy
• p.Glu1931_Arg1932insSerTer Multiple submitters cardiomyopathy
• p.Gly2375Arg Multiple submitters skin fragility-woolly hair-palmoplantar keratoderma syndrome
• p.Lys2180fs Multiple submitters cardiomyopathy
• p.Phe2623fs Multiple submitters cardiomyopathy
• p.Ser2168fs Multiple submitters cardiomyopathy
• p.Ser597Leu Multiple submitters arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Thr1264fs Multiple submitters arrhythmogenic right ventricular cardiomyopathy
• p.Tyr1169Ter Multiple submitters arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• c.1045-1G>C Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• c.1141-1G>A Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• c.1419+2T>G Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• c.1420-1G>A Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• c.1420-1G>T Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• c.1420-2A>G Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• c.1574+1G>C Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• c.170+1dup Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• c.170+5G>A Single submitter arrhythmogenic right ventricular dysplasia 8
• c.1701+2T>A Single submitter arrhythmogenic right ventricular dysplasia 8
• c.1701+2T>C Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• c.1702-1G>T Single submitter arrhythmogenic right ventricular dysplasia 8
• c.1903+1G>C Single submitter
• c.1903+1G>T Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• c.1904-2A>G Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• c.2131-2A>G Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• c.2297+2T>C Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• c.2436+1G>A Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• c.250_273+1del Single submitter Cardiovascular phenotype
• c.2630+1del Single submitter Cardiovascular phenotype
• c.274-2A>G Single submitter arrhythmogenic right ventricular dysplasia 8
• c.2794-1G>A Single submitter arrhythmogenic right ventricular dysplasia 8
• c.2794-2A>G Single submitter arrhythmogenic right ventricular dysplasia 8
• c.2877+1G>A Single submitter arrhythmogenic right ventricular dysplasia 8
• c.2986-3_2995delinsT Single submitter
• c.3085-1G>A Single submitter
• c.3564_3565insALU Single submitter Cardiovascular phenotype
• c.3582+1242dup Single submitter dilated cardiomyopathy
• c.422+2T>G Single submitter arrhythmogenic right ventricular dysplasia 8
• c.423-2A>G Single submitter arrhythmogenic right ventricular dysplasia 8
• c.597+1G>A Single submitter arrhythmogenic right ventricular dysplasia 8
• c.597+2T>C Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• c.777+2T>C Single submitter arrhythmogenic right ventricular dysplasia 8
• c.778-7T>A Single submitter Cardiovascular phenotype
• c.940-2del Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Ala1145fs Single submitter dilated cardiomyopathy
• p.Ala164fs Single submitter dilated cardiomyopathy
• p.Ala1794fs Single submitter dilated cardiomyopathy
• p.Ala2694_Phe2695insTer Single submitter cardiomyopathy
• p.Arg1084fs Single submitter
• p.Arg1123fs Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Arg1184fs Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Arg1411_Leu1412insTer Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Arg1509fs Single submitter dilated cardiomyopathy
• p.Arg2687fs Single submitter
• p.Arg2744fs Single submitter
• p.Arg281fs Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Arg734fs Single submitter myocarditis
• p.Asn1055fs Single submitter familial isolated arrhythmogenic right ventricular dysplasia
• p.Asn1364fs Single submitter cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
• p.Asp116fs Single submitter
• p.Asp1251fs Single submitter
• p.Asp1305fs Single submitter dilated cardiomyopathy
• p.Asp1470fs Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Asp1541_Tyr1542insTer Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Asp2155fs Single submitter cardiomyopathy
• p.Asp2303His Single submitter
• p.Asp230fs Single submitter DSP-related disorder
• p.Asp2624Ter Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Cys1499fs Single submitter dilated cardiomyopathy 1G
• p.Cys57Ter Single submitter cardiomyopathy
• p.Cys81_Leu82insTer Single submitter DSP-related disorder
• p.Gln1227Ter Single submitter arrhythmogenic right ventricular cardiomyopathy
• p.Gln1445fs Single submitter cardiomyopathy
• p.Gln1508Ter Single submitter
• p.Gln1569Ter Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Gln1571Ter Single submitter
• p.Gln1774fs Single submitter cardiomyopathy
• p.Gln2085fs Single submitter
• p.Gln2185_Leu2186insTer Single submitter
• p.Gln2270Ter Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Gln2452fs Single submitter
• p.Gln2677Ter Single submitter cardiomyopathy
• p.Gln2692fs Single submitter cardiomyopathy
• p.Gln335Ter Single submitter DSP-related disorder
• p.Gln355Ter Single submitter cardiomyopathy
• p.Gln539Ter Single submitter dilated cardiomyopathy
• p.Glu106Ter Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Glu1087Ter Single submitter dilated cardiomyopathy
• p.Glu1151Ter Single submitter cardiomyopathy
• p.Glu1347_Leu1348insTer Single submitter cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
• p.Glu1778fs Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Glu1833Ter Single submitter
• p.Glu1889Ter Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Glu2313fs Single submitter cardiomyopathy
• p.Glu2422fs Single submitter cardiomyopathy
• p.Glu2476fs Single submitter Cardiovascular phenotype
• p.Glu929fs Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Gly15fs Single submitter DSP-related disorder
• p.Gly179fs Single submitter dilated cardiomyopathy
• p.Gly2256Asp Single submitter
• p.His1309fs Single submitter
• p.His1684Arg Single submitter progressive familial heart block ⚠
• p.His618fs Single submitter Cardiovascular phenotype
• p.His618Pro Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.His934fs Single submitter
• p.Ile1004fs Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Ile1320fs Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Ile1906fs Single submitter
• p.Ile2372fs Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Ile2596fs Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Ile462del Single submitter cardiomyopathy
• p.Ile565fs Single submitter
• p.Ile71fs Single submitter arrhythmogenic right ventricular cardiomyopathy
• p.Leu1017fs Single submitter
• p.Leu1486Ter Single submitter
• p.Leu1750fs Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Leu2124fs Single submitter cardiomyopathy
• p.Leu2350fs Single submitter
• p.Leu2368fs Single submitter Cardiovascular phenotype
• p.Leu2386Ter Single submitter
• p.Leu319del Single submitter cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
• p.Leu764fs Single submitter cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
• p.Lys1165fs Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Lys140Ter Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Lys1676fs Single submitter cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
• p.Lys2271fs Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Lys2328fs Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Lys2449fs Single submitter Cardiovascular phenotype
• p.Phe2493delinsArgArgProThrArgArgAlaTer Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Phe2544fs Single submitter cardiomyopathy
• p.Phe747fs Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Ser1243Ter Single submitter
• p.Ser176fs Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Ser189fs Single submitter
• p.Ser2594fs Single submitter Cardiovascular phenotype
• p.Ser2610Ter Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Ser313fs Single submitter
• p.Ser507Phe Single submitter cardiomyopathy
• p.Ser970fs Single submitter cardiomyopathy
• p.Thr1319fs Single submitter non-compaction cardiomyopathy
• p.Thr2287fs Single submitter
• p.Thr638Ile Single submitter arrhythmogenic right ventricular dysplasia 8 ⚠
• p.Thr974fs Single submitter arrhythmogenic right ventricular cardiomyopathy
• p.Trp1342Ter Single submitter
• p.Trp285Arg Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Trp550Ter Single submitter arrhythmogenic right ventricular cardiomyopathy
• p.Tyr2528Ter Single submitter cardiomyopathy
• p.Tyr2731fs Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Tyr2731Ter Single submitter familial isolated arrhythmogenic right ventricular dysplasia
• p.Tyr42Ter Single submitter Cardiovascular phenotype
• p.Tyr529Ter Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Tyr787fs Single submitter lethal acantholytic epidermolysis bullosa
• p.Tyr968fs Single submitter
• p.Val2581_Phe2582insTer Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Val505Phe Single submitter
• c.170+2T>G No assertion criteria arrhythmogenic right ventricular cardiomyopathy
• p.Asn1205_Leu1206insTer No assertion criteria dilated cardiomyopathy
• p.Asp871fs No assertion criteria arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Gln1446Ter No assertion criteria arrhythmogenic right ventricular dysplasia 8
• p.Gln1810fs No assertion criteria cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
• p.Glu2588Ter No assertion criteria arrhythmogenic right ventricular dysplasia 8
• p.Glu2638Ter No assertion criteria arrhythmogenic right ventricular dysplasia 8
• p.Gly1948fs No assertion criteria arrhythmogenic right ventricular dysplasia 8
• p.Leu1469fs No assertion criteria arrhythmogenic right ventricular dysplasia 8
• p.Lys1185fs No assertion criteria DSP-related disorder
• p.Lys1826Ter No assertion criteria DSP-related disorder
• p.Lys872Ter No assertion criteria dilated cardiomyopathy
• p.Met1601Ile No assertion criteria arrhythmogenic right ventricular cardiomyopathy ⚠
• p.Met40fs No assertion criteria
• p.Ser594Arg No assertion criteria keratosis palmoplantaris striata 2
• p.Ser987Pro No assertion criteria arrhythmogenic right ventricular cardiomyopathy

Conflicting classifications of pathogenicity 731

Showing the top 300 by review status; the full set is in the sitemap.

• c.1045-3C>T Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• c.1141-3_1141-2del Single submitter cardiomyopathy ⚠
• c.1266+6G>A Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• c.1267-14A>T Single submitter cardiomyopathy
• c.1267-2A>G Single submitter Cardiovascular phenotype ⚠
• c.1420-9G>C Single submitter arrhythmogenic right ventricular dysplasia 8
• c.1574+14G>T Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• c.1575-15C>G Single submitter cardiomyopathy
• c.1575-5C>T Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• c.170+11G>T Single submitter arrhythmogenic right ventricular dysplasia 8
• c.1903+3C>T Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• c.1903+3del Single submitter Cardiovascular phenotype
• c.1903+4G>A Single submitter lethal acantholytic epidermolysis bullosa
• c.1903+5G>T Single submitter arrhythmogenic right ventricular dysplasia 8
• c.2131-10T>C Single submitter arrhythmogenic right ventricular dysplasia 8
• c.2131-5G>C Single submitter Cardiovascular phenotype
• c.2436+2T>C Single submitter Cardiovascular phenotype ⚠
• c.2631-14C>G Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• c.2631-3C>T Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• c.2631-5C>T Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• c.273+3A>G Single submitter Cardiovascular phenotype
• c.273+5G>A Single submitter Cardiovascular phenotype
• c.2794-4dup Single submitter Cardiovascular phenotype
• c.2878-3C>T Single submitter Cardiovascular phenotype
• c.2878-4G>A Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• c.5380-1G>C Single submitter arrhythmogenic right ventricular dysplasia 8 ⚠
• c.5380-20_5380-13del Single submitter cardiomyopathy
• c.598-4G>A Single submitter Cardiovascular phenotype
• c.727-10T>G Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• c.727-11T>C Single submitter arrhythmogenic right ventricular dysplasia 8
• c.940-5C>T Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Ala1074Val Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Ala1077Val Single submitter cardiomyopathy ⚠
• p.Ala114Thr Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Ala1279Ser Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Ala1279Val Single submitter cardiomyopathy
• p.Ala1307Thr Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Ala1435Pro Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Ala1505Val Single submitter Cardiovascular phenotype ⚠
• p.Ala1521Val Single submitter Cardiovascular phenotype ⚠
• p.Ala1584Ser Single submitter arrhythmogenic right ventricular dysplasia 8 ⚠
• p.Ala1609Val Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma ⚠
• p.Ala1688Thr Single submitter Cardiovascular phenotype ⚠
• p.Ala1688Val Single submitter Cardiovascular phenotype ⚠
• p.Ala1741Thr Single submitter arrhythmogenic right ventricular dysplasia 8 ⚠
• p.Ala1741Val Single submitter Cardiovascular phenotype ⚠
• p.Ala1904Val Single submitter cardiomyopathy ⚠
• p.Ala200= Single submitter Cardiovascular phenotype
• p.Ala2005Val Single submitter arrhythmogenic right ventricular dysplasia 8 ⚠
• p.Ala2019Ser Single submitter Cardiovascular phenotype ⚠
• p.Ala2019Thr Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Ala2021Gly Single submitter Cardiovascular phenotype ⚠
• p.Ala2023Gly Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma ⚠
• p.Ala2034Thr Single submitter arrhythmogenic right ventricular dysplasia 8 ⚠
• p.Ala2088Ser Single submitter arrhythmogenic right ventricular dysplasia 8 ⚠
• p.Ala212Thr Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma ⚠
• p.Ala2148Thr Single submitter Cardiovascular phenotype ⚠
• p.Ala2294Gly Single submitter Cardiovascular phenotype ⚠
• p.Ala2296Val Single submitter Cardiovascular phenotype
• p.Ala2373Thr Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma ⚠
• p.Ala261Val Single submitter Cardiovascular phenotype ⚠
• p.Ala2655Gly Single submitter Cardiovascular phenotype ⚠
• p.Ala2674Gly Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma ⚠
• p.Ala2685Ser Single submitter cardiomyopathy ⚠
• p.Ala2760Thr Single submitter lethal acantholytic epidermolysis bullosa ⚠
• p.Ala2760Val Single submitter arrhythmogenic right ventricular dysplasia 8 ⚠
• p.Ala2761Thr Single submitter cardiomyopathy
• p.Ala2805Val Single submitter Cardiovascular phenotype
• p.Ala306Thr Single submitter Cardiovascular phenotype ⚠
• p.Ala566Thr Single submitter Cardiovascular phenotype ⚠
• p.Ala581= Single submitter Cardiovascular phenotype
• p.Ala720Gly Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma ⚠
• p.Ala897Pro Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma ⚠
• p.Ala955Thr Single submitter Cardiovascular phenotype ⚠
• p.Arg1002Gln Single submitter Cardiovascular phenotype ⚠
• p.Arg1002Pro Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Arg1002Trp Single submitter Cardiovascular phenotype
• p.Arg103Gln Single submitter arrhythmogenic right ventricular dysplasia 8 ⚠
• p.Arg103Trp Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma ⚠
• p.Arg1045Gln Single submitter Cardiovascular phenotype
• p.Arg105Gln Single submitter Cardiovascular phenotype ⚠
• p.Arg1113Gln Single submitter cardiomyopathy
• p.Arg1131= Single submitter Cardiovascular phenotype
• p.Arg1184Gln Single submitter keratosis palmoplantaris striata 2
• p.Arg1184Trp Single submitter arrhythmogenic right ventricular dysplasia 8 ⚠
• p.Arg1236Gly Single submitter cardiomyopathy
• p.Arg1247Gln Single submitter Cardiovascular phenotype
• p.Arg1255Lys Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Arg1267Gln Single submitter Cardiovascular phenotype
• p.Arg1269Gln Single submitter Cardiovascular phenotype
• p.Arg129Gln Single submitter Cardiovascular phenotype
• p.Arg129Trp Single submitter cardiomyopathy
• p.Arg1302Cys Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Arg1302His Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Arg1308Trp Single submitter keratosis palmoplantaris striata 2
• p.Arg1340Cys Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Arg1340Gly Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Arg1340His Single submitter cardiomyopathy
• p.Arg1341Cys Single submitter Cardiovascular phenotype
• p.Arg1341His Single submitter Cardiovascular phenotype
• p.Arg1392Gln Single submitter Cardiovascular phenotype
• p.Arg1392Trp Single submitter cardiomyopathy
• p.Arg1400Gln Single submitter Cardiovascular phenotype
• p.Arg1425Lys Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Arg1425Ser Single submitter Cardiovascular phenotype
• p.Arg1458Gln Single submitter Cardiovascular phenotype ⚠
• p.Arg1458Leu Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Arg1497Gln Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma ⚠
• p.Arg1497Trp Single submitter Cardiovascular phenotype
• p.Arg1509Lys Single submitter Cardiovascular phenotype ⚠
• p.Arg150Gln Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma ⚠
• p.Arg1537His Single submitter Cardiovascular phenotype ⚠
• p.Arg1544Ser Single submitter Cardiovascular phenotype ⚠
• p.Arg1558Gln Single submitter Cardiovascular phenotype ⚠
• p.Arg1579Gln Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma ⚠
• p.Arg1579Trp Single submitter arrhythmogenic right ventricular dysplasia 8 ⚠
• p.Arg1603Lys Single submitter Cardiovascular phenotype ⚠
• p.Arg160Gln Single submitter ventricular tachycardia
• p.Arg162Cys Single submitter Cardiovascular phenotype
• p.Arg162Gly Single submitter cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
• p.Arg162His Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Arg162Leu Single submitter cardiomyopathy
• p.Arg1634Gln Single submitter Cardiovascular phenotype ⚠
• p.Arg1634Leu Single submitter Cardiovascular phenotype ⚠
• p.Arg1665Thr Single submitter Cardiovascular phenotype ⚠
• p.Arg1666Gln Single submitter Cardiovascular phenotype ⚠
• p.Arg1666Trp Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Arg16Cys Single submitter Cardiovascular phenotype
• p.Arg16His Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Arg16Pro Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Arg16Ser Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Arg1705Ser Single submitter Cardiovascular phenotype
• p.Arg1725Trp Single submitter Cardiovascular phenotype
• p.Arg1762Gln Single submitter Cardiovascular phenotype ⚠
• p.Arg1775Ile Single submitter Cardiovascular phenotype
• p.Arg1777Gly Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Arg1797= Single submitter Cardiovascular phenotype
• p.Arg1838His Single submitter cardiomyopathy ⚠
• p.Arg1848= Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Arg1852Cys Single submitter cardiomyopathy
• p.Arg1873Cys Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma ⚠
• p.Arg1873His Single submitter Cardiovascular phenotype ⚠
• p.Arg1890Gly Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Arg1912Ser Single submitter Cardiovascular phenotype
• p.Arg1915His Single submitter Cardiovascular phenotype ⚠
• p.Arg1915Ser Single submitter cardiomyopathy ⚠
• p.Arg1932Cys Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Arg1932His Single submitter keratosis palmoplantaris striata 2 ⚠
• p.Arg1945His Single submitter cardiomyopathy ⚠
• p.Arg1951Gln Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma ⚠
• p.Arg199Lys Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma ⚠
• p.Arg19Cys Single submitter cardiomyopathy
• p.Arg19Ser Single submitter Cardiovascular phenotype
• p.Arg2013Gln Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma ⚠
• p.Arg2013Trp Single submitter Cardiovascular phenotype ⚠
• p.Arg2063Gln Single submitter Cardiovascular phenotype
• p.Arg2063Gly Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Arg2063Trp Single submitter Cardiovascular phenotype
• p.Arg2075Gln Single submitter cardiomyopathy
• p.Arg2075Trp Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Arg2083Cys Single submitter Cardiovascular phenotype
• p.Arg2083His Single submitter Cardiovascular phenotype
• p.Arg2123Cys Single submitter Cardiovascular phenotype ⚠
• p.Arg2123His Single submitter cardiomyopathy ⚠
• p.Arg2123Ser Single submitter Cardiovascular phenotype ⚠
• p.Arg2151Gln Single submitter Cardiovascular phenotype
• p.Arg2151Trp Single submitter Cardiovascular phenotype ⚠
• p.Arg2160Gln Single submitter arrhythmogenic right ventricular dysplasia 8 ⚠
• p.Arg2160Pro Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Arg2166Gln Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma ⚠
• p.Arg2189Gln Single submitter Cardiovascular phenotype ⚠
• p.Arg2189Gly Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma ⚠
• p.Arg2189Trp Single submitter cardiomyopathy
• p.Arg2191Lys Single submitter Cardiovascular phenotype ⚠
• p.Arg222Gln Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Arg222Pro Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Arg222Trp Single submitter arrhythmogenic right ventricular dysplasia 8 ⚠
• p.Arg2284Gln Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Arg232Cys Single submitter cardiomyopathy
• p.Arg2385His Single submitter Cardiovascular phenotype ⚠
• p.Arg2432Ile Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma ⚠
• p.Arg2516= Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Arg2541Lys Single submitter Cardiovascular phenotype
• p.Arg2548Gln Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Arg2639Gln Single submitter Cardiovascular phenotype
• p.Arg2639Trp Single submitter cardiomyopathy ⚠
• p.Arg265Lys Single submitter Cardiovascular phenotype ⚠
• p.Arg270Gln Single submitter Cardiovascular phenotype
• p.Arg2725Cys Single submitter Cardiovascular phenotype ⚠
• p.Arg2725His Single submitter arrhythmogenic right ventricular dysplasia 8 ⚠
• p.Arg2752Gln Single submitter Cardiovascular phenotype
• p.Arg2752Trp Single submitter Cardiovascular phenotype
• p.Arg2791His Single submitter Cardiovascular phenotype
• p.Arg27Cys Single submitter Cardiovascular phenotype
• p.Arg2801Gly Single submitter Cardiovascular phenotype
• p.Arg2801His Single submitter Cardiovascular phenotype ⚠
• p.Arg2826Cys Single submitter lethal acantholytic epidermolysis bullosa
• p.Arg2826His Single submitter Cardiovascular phenotype
• p.Arg2834Cys Single submitter Cardiovascular phenotype
• p.Arg2834His Single submitter cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
• p.Arg2838Cys Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Arg2842Cys Single submitter Brugada syndrome 1
• p.Arg2846Gln Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Arg2846Gly Single submitter Cardiovascular phenotype
• p.Arg315Cys Single submitter Cardiovascular phenotype ⚠
• p.Arg315His Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Arg315Leu Single submitter Cardiovascular phenotype ⚠
• p.Arg39Ser Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma ⚠
• p.Arg425Gln Single submitter Cardiovascular phenotype
• p.Arg433His Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Arg44Trp Single submitter cardiomyopathy
• p.Arg451His Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma ⚠
• p.Arg490Cys Single submitter Cardiovascular phenotype ⚠
• p.Arg490His Single submitter cardiomyopathy
• p.Arg572Gln Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Arg572Trp Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Arg606Gln Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma ⚠
• p.Arg606Trp Single submitter Cardiovascular phenotype
• p.Arg676Cys Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Arg676His Single submitter Cardiovascular phenotype
• p.Arg677Lys Single submitter cardiomyopathy ⚠
• p.Arg790Lys Single submitter Cardiovascular phenotype ⚠
• p.Arg808Cys Single submitter Cardiovascular phenotype
• p.Arg808His Single submitter cardiomyopathy ⚠
• p.Arg84Gln Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma ⚠
• p.Arg866Cys Single submitter Cardiovascular phenotype
• p.Arg866His Single submitter Cardiovascular phenotype
• p.Arg866Leu Single submitter arrhythmogenic right ventricular dysplasia 8 ⚠
• p.Arg889Lys Single submitter Cardiovascular phenotype ⚠
• p.Arg892His Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma ⚠
• p.Arg907Cys Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma ⚠
• p.Arg907His Single submitter Cardiovascular phenotype ⚠
• p.Arg908His Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma ⚠
• p.Arg908Leu Single submitter arrhythmogenic right ventricular dysplasia 8 ⚠
• p.Arg925Gln Single submitter Cardiovascular phenotype ⚠
• p.Arg925Trp Single submitter lethal acantholytic epidermolysis bullosa ⚠
• p.Arg941Gln Single submitter Cardiovascular phenotype ⚠
• p.Asn1108Ser Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma ⚠
• p.Asn1152Lys Single submitter cardiomyopathy ⚠
• p.Asn115Ser Single submitter Cardiovascular phenotype ⚠
• p.Asn12= Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Asn1200Lys Single submitter Cardiovascular phenotype
• p.Asn1234Ser Single submitter Cardiovascular phenotype ⚠
• p.Asn1324Ile Single submitter Cardiovascular phenotype
• p.Asn1354Ser Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Asn1614Ser Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma ⚠
• p.Asn1726Lys Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma ⚠
• p.Asn1865Ser Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma ⚠
• p.Asn1865Tyr Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma ⚠
• p.Asn2114Asp Single submitter cardiomyopathy ⚠
• p.Asn2139Ser Single submitter arrhythmogenic right ventricular dysplasia 8 ⚠
• p.Asn2171Asp Single submitter arrhythmogenic right ventricular dysplasia 8 ⚠
• p.Asn2234Ser Single submitter arrhythmogenic right ventricular cardiomyopathy ⚠
• p.Asn339Ser Single submitter arrhythmogenic right ventricular dysplasia 8 ⚠
• p.Asn408Asp Single submitter Cardiovascular phenotype ⚠
• p.Asn408His Single submitter Cardiovascular phenotype
• p.Asn650Ser Single submitter Cardiovascular phenotype ⚠
• p.Asn658Ser Single submitter cardiomyopathy ⚠
• p.Asn732Asp Single submitter Cardiovascular phenotype
• p.Asn757Ser Single submitter cardiomyopathy
• p.Asn956Tyr Single submitter Cardiovascular phenotype ⚠
• p.Asp1098Glu Single submitter Cardiovascular phenotype
• p.Asp1130Asn Single submitter Cardiovascular phenotype
• p.Asp1240His Single submitter Cardiovascular phenotype
• p.Asp1248Ala Single submitter Cardiovascular phenotype
• p.Asp1258Glu Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Asp1478Gly Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Asp1491Asn Single submitter Cardiovascular phenotype ⚠
• p.Asp1496Val Single submitter Cardiovascular phenotype ⚠
• p.Asp1541Asn Single submitter arrhythmogenic right ventricular dysplasia 8 ⚠
• p.Asp1553Asn Single submitter Cardiovascular phenotype ⚠
• p.Asp1732Asn Single submitter Cardiovascular phenotype
• p.Asp1733Asn Single submitter arrhythmogenic right ventricular dysplasia 8 ⚠
• p.Asp1742Gly Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Asp1772= Single submitter cardiomyopathy
• p.Asp1940= Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Asp1940Val Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma ⚠
• p.Asp1987Asn Single submitter cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
• p.Asp1992Glu Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma ⚠
• p.Asp203Asn Single submitter Cardiovascular phenotype
• p.Asp2070Asn Single submitter Cardiovascular phenotype
• p.Asp2081Asn Single submitter Cardiovascular phenotype
• p.Asp2155Gly Single submitter cardiomyopathy ⚠
• p.Asp230Asn Single submitter Cardiovascular phenotype
• p.Asp236His Single submitter Cardiovascular phenotype ⚠
• p.Asp241Asn Single submitter cardiomyopathy
• p.Asp2489Asn Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Asp2521Gly Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma ⚠
• p.Asp2540Asn Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma ⚠
• p.Asp2579Asn Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma ⚠
• p.Asp2580Tyr Single submitter arrhythmogenic right ventricular dysplasia 8 ⚠
• p.Asp2673= Single submitter Cardiovascular phenotype
• p.Asp2681Ala Single submitter cardiomyopathy ⚠
• p.Asp2851= Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Asp297Asn Single submitter lethal acantholytic epidermolysis bullosa ⚠
• p.Asp345Gly Single submitter cardiomyopathy ⚠
• p.Asp521Ala Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Asp521Glu Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma ⚠
• p.Asp582Asn Single submitter arrhythmogenic right ventricular dysplasia 8 ⚠
• p.Asp614Asn Single submitter cardiomyopathy ⚠

Benign 112

• c.1141-44C>T Multiple submitters cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
• c.1702-18C>T Multiple submitters arrhythmogenic right ventricular dysplasia 8
• c.1903+7T>C Multiple submitters arrhythmogenic right ventricular dysplasia 8
• c.1904-49T>A Multiple submitters cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
• c.274-31T>C Multiple submitters
• c.3084+24T>G Multiple submitters cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
• c.3084+28G>A Multiple submitters cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
• c.*197C>T Multiple submitters woolly hair-skin fragility syndrome
• c.*39T>C Multiple submitters arrhythmogenic right ventricular dysplasia 8
• p.Arg1738Gln Multiple submitters Cardiovascular phenotype
• p.Arg2725= Multiple submitters Cardiovascular phenotype
• p.Asn1526Lys Multiple submitters Cardiovascular phenotype
• p.Cys954= Multiple submitters Cardiovascular phenotype
• p.Gly697= Multiple submitters arrhythmogenic right ventricular dysplasia 8
• p.Thr2374= Multiple submitters cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
• p.Tyr1512Cys Multiple submitters Cardiovascular phenotype
• p.Tyr42= Multiple submitters Cardiovascular phenotype
• c.1044+42dup Single submitter
• c.1266+167C>T Single submitter
• c.1266+215G>T Single submitter
• c.1420-93C>T Single submitter
• c.170+163C>T Single submitter
• c.170+195del Single submitter
• c.170+300C>A Single submitter
• c.1701+167A>G Single submitter
• c.1701+186C>G Single submitter
• c.1702-189del Single submitter
• c.1702-189dup Single submitter
• c.1702-289G>T Single submitter
• c.171-285A>G Single submitter
• c.171-315_171-314insTATT Single submitter
• c.171-97G>C Single submitter
• c.1903+57G>A Single submitter
• c.2297+51T>C Single submitter
• c.2298-38T>C Single submitter
• c.2298-85C>T Single submitter
• c.2437-11dup Single submitter cardiomyopathy
• c.2631-159G>A Single submitter
• c.273+180G>T Single submitter
• c.273+191A>G Single submitter
• c.274-285dup Single submitter
• c.274-309A>G Single submitter
• c.2794-113G>A Single submitter
• c.2877+280TGTT[5] Single submitter
• c.2877+79C>A Single submitter
• c.2878-268A>G Single submitter
• c.2985+224G>C Single submitter
• c.2985+274GA[2] Single submitter
• c.2985+70G>A Single submitter
• c.3084+175C>T Single submitter
• c.3085-114A>G Single submitter
• c.3085-115_3085-114del Single submitter
• c.3085-115C>T Single submitter
• c.3085-145A>T Single submitter
• c.3085-197G>T Single submitter
• c.3085-72G>A Single submitter
• c.3085-96A>G Single submitter
• c.422+145A>G Single submitter
• c.422+223C>G Single submitter
• c.422+275G>A Single submitter
• c.422+32C>G Single submitter
• c.422+81A>G Single submitter
• c.422+84G>T Single submitter
• c.423-130dup Single submitter
• c.423-23T>A Single submitter
• c.423-95A>G Single submitter
• c.423-9dup Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• c.5380-235A>G Single submitter
• c.598-266_598-265dup Single submitter
• c.598-279G>T Single submitter
• c.726+219T>G Single submitter chronic obstructive pulmonary disease
• c.727-14_727-13del Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• c.727-206C>T Single submitter
• c.727-213G>A Single submitter
• c.777+104G>A Single submitter
• c.777+120C>G Single submitter
• c.777+94C>G Single submitter
• c.778-216C>T Single submitter
• c.778-92dup Single submitter
• c.939+132G>A Single submitter
• c.939+195G>A Single submitter
• c.939+299C>T Single submitter
• c.940-195T>C Single submitter
• c.940-224T>C Single submitter
• c.-34C>T Single submitter
• c.-538G>C Single submitter
• c.-566G>A Single submitter
• p.Ala2023= Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Arg2687= Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Arg877= Single submitter
• p.Asp1138= Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Asp2070= Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Asp2098= Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Asp800= Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Cys78= Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Gln434= Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Glu29= Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Glu680= Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Gly1948= Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Gly479= Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Leu295= Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Lys1185= Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Lys1410= Single submitter
• p.Lys1715= Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Lys485= Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Lys916= Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Pro2216= Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Pro2342= Single submitter arrhythmogenic right ventricular dysplasia 8
• p.Ser2861= Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Thr31= Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Thr666= Single submitter arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• p.Tyr95Cys Single submitter arrhythmogenic right ventricular dysplasia 8