ALPK3 — 2979 ClinVar variants

Pathogenic 149

• p.Arg1059Ter Multiple submitters cardiomyopathy, familial hypertrophic 27
• p.Arg440fs Multiple submitters Cardiovascular phenotype
• p.Arg819Ter Multiple submitters cardiomyopathy, familial hypertrophic 27
• p.Asp1522fs Multiple submitters Cardiovascular phenotype
• p.Gln1475Ter Multiple submitters
• p.Gln231Ter Multiple submitters cardiomyopathy, familial hypertrophic 27
• p.Gln325Ter Multiple submitters Cardiovascular phenotype
• p.Gln358Ter Multiple submitters Cardiovascular phenotype
• p.Gln409Ter Multiple submitters Cardiovascular phenotype
• p.Gln543fs Multiple submitters cardiomyopathy, familial hypertrophic 27
• p.Gln70Ter Multiple submitters cardiomyopathy, familial hypertrophic 27
• p.Glu197Ter Multiple submitters cardiomyopathy, familial hypertrophic 27
• p.Glu203Ter Multiple submitters cardiomyopathy, familial hypertrophic 27
• p.Glu46fs Multiple submitters Cardiovascular phenotype
• p.Gly1368Ter Multiple submitters Cardiovascular phenotype
• p.Ile177fs Multiple submitters
• p.Pro1385fs Multiple submitters neurodevelopmental disorder
• p.Pro347fs Multiple submitters cardiomyopathy
• p.Ser1438Ter Multiple submitters ALPK3-related disorder
• p.Thr129fs Multiple submitters Cardiovascular phenotype
• p.Trp1295Ter Multiple submitters Cardiovascular phenotype
• p.Trp250Ter Multiple submitters Cardiovascular phenotype
• p.Tyr1430Ter Multiple submitters cardiomyopathy, familial hypertrophic 27
• c.(182+1_183-1 Single submitter Cardiovascular phenotype
• p.Ala1134Ter Single submitter
• p.Ala1147_Leu1148insTer Single submitter
• p.Ala1147fs Single submitter
• p.Ala189_Ala191delinsGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgGlyGlnXaaXaaXaaXaaLysLysLysLysLysLysLysLysLysLysLys Single submitter
• p.Ala190fs Single submitter
• p.Ala19fs Single submitter
• p.Ala230fs Single submitter
• p.Ala69fs Single submitter Cardiovascular phenotype
• p.Arg1052fs Single submitter
• p.Arg1167Ter Single submitter
• p.Arg1197fs Single submitter
• p.Arg1210fs Single submitter
• p.Arg141fs Single submitter
• p.Arg143fs Single submitter
• p.Arg220fs Single submitter
• p.Arg223Ter Single submitter
• p.Arg240fs Single submitter
• p.Arg482fs Single submitter cardiomyopathy, familial hypertrophic 27
• p.Arg86fs Single submitter
• p.Asp1045fs Single submitter
• p.Asp1080fs Single submitter
• p.Cys1341Ter Single submitter
• p.Cys297Ter Single submitter
• p.Cys355fs Single submitter
• p.Cys355Ter Single submitter
• p.Cys855Ter Single submitter
• p.Gln1107Ter Single submitter
• p.Gln1217fs Single submitter Cardiovascular phenotype
• p.Gln1275fs Single submitter Cardiovascular phenotype
• p.Gln155Ter Single submitter
• p.Gln1584Ter Single submitter
• p.Gln198Ter Single submitter
• p.Gln222Ter Single submitter
• p.Gln358fs Single submitter
• p.Gln435fs Single submitter Cardiovascular phenotype
• p.Gln519fs Single submitter
• p.Gln556Ter Single submitter Cardiovascular phenotype
• p.Gln602Ter Single submitter
• p.Gln617Ter Single submitter
• p.Gln631Ter Single submitter
• p.Gln640Ter Single submitter
• p.Gln646Ter Single submitter Cardiovascular phenotype
• p.Gln652fs Single submitter
• p.Gln664fs Single submitter
• p.Gln670Ter Single submitter
• p.Gln699Ter Single submitter
• p.Gln812Ter Single submitter Cardiovascular phenotype
• p.Gln822fs Single submitter
• p.Gln837Ter Single submitter
• p.Gln862Ter Single submitter
• p.Gln921fs Single submitter
• p.Gln921Ter Single submitter
• p.Glu1117fs Single submitter
• p.Glu1146fs Single submitter
• p.Glu1488fs Single submitter
• p.Glu197fs Single submitter
• p.Glu241fs Single submitter
• p.Glu254fs Single submitter
• p.Glu273Ter Single submitter
• p.Glu283fs Single submitter
• p.Glu594fs Single submitter
• p.Glu754Ter Single submitter cardiomyopathy, familial hypertrophic 27
• p.Glu807Ter Single submitter Cardiovascular phenotype
• p.Gly1203fs Single submitter
• p.Gly1239fs Single submitter
• p.Gly1414fs Single submitter
• p.Gly326fs Single submitter
• p.Gly746fs Single submitter
• p.Gly796fs Single submitter
• p.Gly846Ter Single submitter
• p.Gly948fs Single submitter cardiomyopathy, familial hypertrophic 27
• p.Gly980Ter Single submitter
• p.Ile1469fs Single submitter
• p.Leu1030fs Single submitter
• p.Leu415fs Single submitter Cardiovascular phenotype
• p.Leu540Ter Single submitter Cardiovascular phenotype
• p.Lys1220fs Single submitter
• p.Lys192fs Single submitter
• p.Lys224fs Single submitter
• p.Lys309Ter Single submitter
• p.Lys708fs Single submitter
• p.Lys740Ter Single submitter
• p.Lys767Ter Single submitter
• p.Phe1298fs Single submitter
• p.Phe1299fs Single submitter
• p.Phe1452fs Single submitter
• p.Pro1097_Glu1098delinsLeuTer Single submitter Cardiovascular phenotype
• p.Pro1137fs Single submitter cardiomyopathy, familial hypertrophic 27
• p.Pro1338_Val1339insTer Single submitter
• p.Pro1499fs Single submitter
• p.Pro352_Asp353insTer Single submitter Cardiovascular phenotype
• p.Pro378fs Single submitter
• p.Pro446fs Single submitter cardiomyopathy, familial hypertrophic 27
• p.Pro549fs Single submitter cardiomyopathy
• p.Pro747fs Single submitter
• p.Pro871fs Single submitter
• p.Pro910fs Single submitter
• p.Ser1085Ter Single submitter
• p.Ser1096fs Single submitter
• p.Ser1129fs Single submitter cardiomyopathy, familial hypertrophic 27
• p.Ser1138fs Single submitter
• p.Ser1241fs Single submitter Cardiovascular phenotype
• p.Ser228fs Single submitter Cardiovascular phenotype
• p.Ser500fs Single submitter
• p.Ser783fs Single submitter
• p.Ser824fs Single submitter cardiomyopathy, familial hypertrophic 27
• p.Ser931fs Single submitter
• p.Ser951fs Single submitter Cardiovascular phenotype
• p.Ser976fs Single submitter
• p.Thr1182fs Single submitter Cardiovascular phenotype
• p.Thr710fs Single submitter
• p.Thr920fs Single submitter
• p.Trp1062Ter Single submitter cardiomyopathy, familial hypertrophic 27
• p.Trp110Ter Single submitter
• p.Trp1398Ter Single submitter
• p.Tyr140fs Single submitter Cardiovascular phenotype
• p.Tyr1505Ter Single submitter
• p.Tyr175Ter Single submitter
• p.Tyr295Ter Single submitter
• p.Tyr39Ter Single submitter Cardiovascular phenotype
• p.Val166fs Single submitter
• p.Val29fs Single submitter
• p.Val411fs Single submitter
• p.Val813fs Single submitter
• p.Val827fs Single submitter

Pathogenic/Likely pathogenic 41

• c.3818-1G>C Multiple submitters Cardiovascular phenotype
• c.423del Multiple submitters cardiomyopathy
• p.Ala749fs Multiple submitters Cardiovascular phenotype
• p.Arg1114Ter Multiple submitters ALPK3-related disorder
• p.Arg1194fs Multiple submitters Cardiovascular phenotype
• p.Arg1405Ter Multiple submitters ALPK3-related disorder
• p.Arg1412Ter Multiple submitters Cardiovascular phenotype
• p.Arg143Ter Multiple submitters ALPK3-related disorder
• p.Arg226Ter Multiple submitters Cardiovascular phenotype
• p.Arg37fs Multiple submitters Cardiovascular phenotype
• p.Arg480fs Multiple submitters cardiomyopathy, familial hypertrophic 27
• p.Asn1464fs Multiple submitters cardiomyopathy, familial hypertrophic 27
• p.Asp1077fs Multiple submitters ALPK3-related disorder
• p.Asp1312fs Multiple submitters cardiomyopathy, familial hypertrophic 27
• p.Gln1258Ter Multiple submitters cardiomyopathy, familial hypertrophic 27
• p.Gln138Ter Multiple submitters Cardiovascular phenotype
• p.Gln231fs Multiple submitters Cardiovascular phenotype
• p.Gln305Ter Multiple submitters ALPK3-related disorder
• p.Gln365Ter Multiple submitters cardiomyopathy, familial hypertrophic 27
• p.Gln473fs Multiple submitters Cardiovascular phenotype
• p.Gln681_Glu682delinsHisTer Multiple submitters ALPK3-related disorder
• p.Gln711Ter Multiple submitters Cardiovascular phenotype
• p.Gln803Ter Multiple submitters
• p.Gln890Ter Multiple submitters cardiomyopathy, familial hypertrophic 27
• p.Glu1098Ter Multiple submitters cardiomyopathy, familial hypertrophic 27
• p.Glu1179fs Multiple submitters cardiomyopathy, familial hypertrophic 27
• p.Glu1480Ter Multiple submitters hypertrophic cardiomyopathy
• p.Glu195fs Multiple submitters Cardiovascular phenotype
• p.Glu279Ter Multiple submitters Cardiovascular phenotype
• p.Gly21fs Multiple submitters Cardiovascular phenotype
• p.Gly882fs Multiple submitters Cardiovascular phenotype
• p.Ile99fs Multiple submitters Cardiovascular phenotype
• p.Leu227Ter Multiple submitters Cardiovascular phenotype
• p.Lys1243fs Multiple submitters cardiomyopathy, familial hypertrophic 27
• p.Phe221fs Multiple submitters cardiomyopathy
• p.Pro1215fs Multiple submitters ALPK3-related disorder
• p.Ser1007fs Multiple submitters
• p.Ser236fs Multiple submitters ALPK3-related disorder
• p.Ser653Ter Multiple submitters
• p.Ser878fs Multiple submitters cardiomyopathy, familial hypertrophic 27
• p.Thr212fs Multiple submitters Cardiovascular phenotype

Likely pathogenic 85

• c.143+1G>A Multiple submitters Cardiovascular phenotype
• c.4093+1G>A Multiple submitters ALPK3-related disorder
• c.4094-1G>C Multiple submitters
• c.4130-1G>A Multiple submitters Cardiovascular phenotype
• c.423-2A>G Multiple submitters ALPK3-related disorder
• c.4499+1G>A Multiple submitters Cardiovascular phenotype
• c.4724-1G>A Multiple submitters cardiomyopathy, familial hypertrophic 27
• p.Gln251Ter Multiple submitters Cardiovascular phenotype
• p.Gln337Ter Multiple submitters Cardiovascular phenotype
• p.Glu974Ter Multiple submitters Cardiovascular phenotype
• p.Thr368fs Multiple submitters ALPK3-related disorder
• c.1178_1179insALU Single submitter Cardiovascular phenotype
• c.1653+1G>T Single submitter
• c.1654-2A>C Single submitter
• c.1654-2A>G Single submitter cardiomyopathy, familial hypertrophic 27
• c.182+1G>T Single submitter cardiomyopathy, familial hypertrophic 27
• c.183-1G>A Single submitter
• c.(304+1_305-1 Single submitter Cardiovascular phenotype
• c.304+2T>A Single submitter
• c.305-1G>A Single submitter
• c.3817+1G>A Single submitter
• c.3818-1del Single submitter Cardiovascular phenotype
• c.3965+2T>G Single submitter cardiomyopathy, familial hypertrophic 27
• c.3966-2A>T Single submitter
• c.4093+2T>C Single submitter
• c.4129+2T>C Single submitter
• c.422+1G>A Single submitter
• c.423-18_444del Single submitter Cardiovascular phenotype
• c.423-1G>A Single submitter
• c.4410+1G>A Single submitter
• c.4410+1G>C Single submitter
• c.4410+2T>A Single submitter
• c.4499+5G>C Single submitter
• c.4500-1G>C Single submitter
• c.4500-2A>T Single submitter ALPK3-related disorder
• c.4724-2A>G Single submitter
• c.(788+1_789-1 Single submitter Cardiovascular phenotype
• c.-25dup Single submitter Cardiovascular phenotype
• p.Ala1105fs Single submitter Cardiovascular phenotype
• p.Ala402fs Single submitter hypertrophic cardiomyopathy
• p.Arg1212fs Single submitter cardiomyopathy, familial hypertrophic 27
• p.Arg597Ter Single submitter
• p.Asn267fs Single submitter Cardiovascular phenotype
• p.Asn479fs Single submitter ALPK3-related disorder
• p.Asp1400fs Single submitter cardiomyopathy, familial hypertrophic 27
• p.Asp146fs Single submitter cardiomyopathy, familial hypertrophic 27
• p.Asp219_Arg220insTer Single submitter cardiomyopathy, familial hypertrophic 27
• p.Asp26fs Single submitter cardiomyopathy, familial hypertrophic 27
• p.Gln1562Ter Single submitter cardiomyopathy, familial hypertrophic 27
• p.Gln222fs Single submitter ALPK3-related disorder
• p.Gln259Ter Single submitter cardiomyopathy, familial hypertrophic 27
• p.Gln652Ter Single submitter cardiomyopathy, familial hypertrophic 27
• p.Gln758Ter Single submitter ALPK3-related disorder
• p.Gln822Ter Single submitter Cardiovascular phenotype
• p.Gln938Ter Single submitter ALPK3-related disorder
• p.Glu1078Ter Single submitter ALPK3-related disorder
• p.Glu1231Ter Single submitter cardiomyopathy, familial hypertrophic 27
• p.Glu1382Ter Single submitter cardiomyopathy, familial hypertrophic 27
• p.Glu1528Ter Single submitter Cardiovascular phenotype
• p.Glu1548Ter Single submitter Cardiovascular phenotype
• p.Glu682Ter Single submitter cardiomyopathy, familial hypertrophic 27
• p.Gly229delinsAspTer Single submitter Cardiovascular phenotype
• p.Gly980fs Single submitter cardiomyopathy, familial hypertrophic 27
• p.Leu870fs Single submitter cardiomyopathy, familial hypertrophic 27
• p.Lys1257Ter Single submitter ALPK3-related disorder
• p.Lys1279fs Single submitter ALPK3-related disorder
• p.Lys309fs Single submitter cardiomyopathy, familial hypertrophic 27
• p.Phe269fs Single submitter ALPK3-related disorder
• p.Pro1240fs Single submitter
• p.Pro304fs Single submitter cardiomyopathy, familial hypertrophic 27
• p.Pro804fs Single submitter
• p.Ser1204fs Single submitter cardiomyopathy, familial hypertrophic 27
• p.Ser1222fs Single submitter Cardiovascular phenotype
• p.Ser469fs Single submitter cardiomyopathy, familial hypertrophic 27
• p.Ser501fs Single submitter cardiomyopathy, familial hypertrophic 27
• p.Ser715fs Single submitter cardiomyopathy, familial hypertrophic 27
• p.Ser795fs Single submitter ALPK3-related disorder
• p.Thr1441fs Single submitter ALPK3-related disorder
• p.Trp1563Ter Single submitter cardiomyopathy, familial hypertrophic 27
• p.Trp200Ter Single submitter ALPK3-related disorder
• p.Tyr1530Ter Single submitter ALPK3-related disorder
• p.Val1226fs Single submitter ALPK3-related disorder
• p.Val1319fs Single submitter Cardiovascular phenotype
• c.5019del No assertion criteria cardiomyopathy, familial hypertrophic 27
• p.Ser1106fs No assertion criteria hypertrophic cardiomyopathy 12

Conflicting classifications of pathogenicity 200

• c.135_143+12del Single submitter cardiomyopathy, familial hypertrophic 27
• c.182+1G>A Single submitter Cardiovascular phenotype
• c.183-5C>T Single submitter Cardiovascular phenotype
• c.3965+2T>C Single submitter Cardiovascular phenotype
• c.436_440dup5 Single submitter Cardiovascular phenotype
• c.4410+6A>G Single submitter
• c.4499+2dup Single submitter cardiomyopathy, familial hypertrophic 27
• c.4723+4C>T Single submitter
• c.-176C>T Single submitter Cardiovascular phenotype ⚠
• c.-18G>C Single submitter Cardiovascular phenotype ⚠
• c.-56_-55delinsCT Single submitter Cardiovascular phenotype
• c.-66del Single submitter ALPK3-related disorder
• c.-83C>G Single submitter Cardiovascular phenotype ⚠
• p.Ala1118Thr Single submitter Cardiovascular phenotype ⚠
• p.Ala1123Thr Single submitter ⚠
• p.Ala1134Val Single submitter Cardiovascular phenotype ⚠
• p.Ala1221Val Single submitter Cardiovascular phenotype ⚠
• p.Ala1234Val Single submitter Cardiovascular phenotype ⚠
• p.Ala1235Val Single submitter Cardiovascular phenotype ⚠
• p.Ala1288Val Single submitter Cardiovascular phenotype ⚠
• p.Ala1329Val Single submitter Cardiovascular phenotype ⚠
• p.Ala1355Thr Single submitter cardiomyopathy, familial hypertrophic 27 ⚠
• p.Ala1423Ser Single submitter Cardiovascular phenotype ⚠
• p.Ala1492Val Single submitter Cardiovascular phenotype ⚠
• p.Ala1630Val Single submitter Cardiovascular phenotype ⚠
• p.Ala1676Gly Single submitter Cardiovascular phenotype ⚠
• p.Ala232Val Single submitter Cardiovascular phenotype ⚠
• p.Ala299Thr Single submitter Cardiovascular phenotype ⚠
• p.Ala314Thr Single submitter Cardiovascular phenotype ⚠
• p.Ala390Thr Single submitter Cardiovascular phenotype ⚠
• p.Ala441Val Single submitter ⚠
• p.Ala560Thr Single submitter Cardiovascular phenotype ⚠
• p.Ala572Val Single submitter Cardiovascular phenotype ⚠
• p.Ala643Val Single submitter Cardiovascular phenotype ⚠
• p.Ala716Thr Single submitter Cardiovascular phenotype ⚠
• p.Ala745Val Single submitter Cardiovascular phenotype ⚠
• p.Ala782Thr Single submitter Cardiovascular phenotype ⚠
• p.Ala881Val Single submitter Cardiovascular phenotype ⚠
• p.Ala929Thr Single submitter Cardiovascular phenotype ⚠
• p.Arg1009Gln Single submitter Cardiovascular phenotype ⚠
• p.Arg1013Cys Single submitter Cardiovascular phenotype ⚠
• p.Arg1017His Single submitter Cardiovascular phenotype ⚠
• p.Arg1046Cys Single submitter Cardiovascular phenotype ⚠
• p.Arg1046His Single submitter Cardiovascular phenotype ⚠
• p.Arg1059Gln Single submitter Cardiovascular phenotype ⚠
• p.Arg1114Pro Single submitter Cardiovascular phenotype ⚠
• p.Arg1186_Glu1187dup Single submitter
• p.Arg1210Gln Single submitter Cardiovascular phenotype ⚠
• p.Arg1228Gln Single submitter Cardiovascular phenotype ⚠
• p.Arg1228Gly Single submitter cardiomyopathy, familial hypertrophic 27 ⚠
• p.Arg1228Trp Single submitter Cardiovascular phenotype ⚠
• p.Arg1278Trp Single submitter Cardiovascular phenotype ⚠
• p.Arg1314Cys Single submitter Cardiovascular phenotype ⚠
• p.Arg1314His Single submitter Cardiovascular phenotype ⚠
• p.Arg1412Gln Single submitter Cardiovascular phenotype ⚠
• p.Arg143Gln Single submitter Cardiovascular phenotype ⚠
• p.Arg1463Gly Single submitter Cardiovascular phenotype ⚠
• p.Arg1490Gln Single submitter Cardiovascular phenotype ⚠
• p.Arg1490Trp Single submitter Cardiovascular phenotype ⚠
• p.Arg1509Gln Single submitter Cardiovascular phenotype
• p.Arg1590Ter Single submitter Cardiovascular phenotype
• p.Arg1606Trp Single submitter Cardiovascular phenotype ⚠
• p.Arg1705Gln Single submitter Cardiovascular phenotype ⚠
• p.Arg223= Single submitter Cardiovascular phenotype
• p.Arg328Gln Single submitter Cardiovascular phenotype ⚠
• p.Arg339Cys Single submitter cardiomyopathy, familial hypertrophic 27 ⚠
• p.Arg440Gln Single submitter Cardiovascular phenotype ⚠
• p.Arg530Gln Single submitter Cardiovascular phenotype ⚠
• p.Arg531Trp Single submitter Cardiovascular phenotype ⚠
• p.Arg536Trp Single submitter ⚠
• p.Arg634Cys Single submitter cardiomyopathy, familial hypertrophic 27 ⚠
• p.Arg748Gly Single submitter Cardiovascular phenotype ⚠
• p.Arg819Gln Single submitter Cardiovascular phenotype ⚠
• p.Arg843Gln Single submitter Cardiovascular phenotype ⚠
• p.Arg843Trp Single submitter Cardiovascular phenotype ⚠
• p.Arg945Gln Single submitter Cardiovascular phenotype ⚠
• p.Arg945Trp Single submitter Cardiovascular phenotype ⚠
• p.Arg950Gln Single submitter Cardiovascular phenotype ⚠
• p.Asp1177Glu Single submitter Cardiovascular phenotype ⚠
• p.Asp1248Asn Single submitter Cardiovascular phenotype ⚠
• p.Asp1358Asn Single submitter Cardiovascular phenotype ⚠
• p.Asp1400Glu Single submitter cardiomyopathy, familial hypertrophic 27
• p.Asp219Asn Single submitter Cardiovascular phenotype ⚠
• p.Asp298Gly Single submitter Cardiovascular phenotype ⚠
• p.Asp654Val Single submitter Cardiovascular phenotype ⚠
• p.Asp833Gly Single submitter Cardiovascular phenotype ⚠
• p.Asp93Gly Single submitter
• p.Cys555Ser Single submitter Cardiovascular phenotype ⚠
• p.Cys838Phe Single submitter Cardiovascular phenotype ⚠
• p.Gln1107Glu Single submitter Cardiovascular phenotype ⚠
• p.Gln409Arg Single submitter Cardiovascular phenotype ⚠
• p.Gln435Arg Single submitter Cardiovascular phenotype ⚠
• p.Gln903Lys Single submitter Cardiovascular phenotype ⚠
• p.Glu1184Asp Single submitter Cardiovascular phenotype ⚠
• p.Glu1364Asp Single submitter Cardiovascular phenotype ⚠
• p.Glu1437Lys Single submitter Cardiovascular phenotype
• p.Glu1534Lys Single submitter Cardiovascular phenotype ⚠
• p.Glu321Gly Single submitter Cardiovascular phenotype ⚠
• p.Glu491Asp Single submitter Cardiovascular phenotype ⚠
• p.Glu727Asp Single submitter cardiomyopathy, familial hypertrophic 27 ⚠
• p.Glu811Gly Single submitter Cardiovascular phenotype ⚠
• p.Glu828Lys Single submitter Cardiovascular phenotype ⚠
• p.Glu901Gly Single submitter Cardiovascular phenotype ⚠
• p.Glu901Lys Single submitter Cardiovascular phenotype ⚠
• p.Glu90Lys Single submitter Cardiovascular phenotype
• p.Gly1042Ser Single submitter Cardiovascular phenotype ⚠
• p.Gly1101Asp Single submitter Cardiovascular phenotype ⚠
• p.Gly122Asp Single submitter
• p.Gly1245Ser Single submitter Cardiovascular phenotype ⚠
• p.Gly1246Ser Single submitter Cardiovascular phenotype ⚠
• p.Gly1317= Single submitter Cardiovascular phenotype
• p.Gly1575= Single submitter cardiomyopathy, familial hypertrophic 27
• p.Gly21Val Single submitter cardiomyopathy ⚠
• p.Gly313Glu Single submitter Cardiovascular phenotype ⚠
• p.Gly534Ser Single submitter Cardiovascular phenotype ⚠
• p.Gly545Ser Single submitter Cardiovascular phenotype ⚠
• p.Gly580Arg Single submitter Cardiovascular phenotype ⚠
• p.Gly892Arg Single submitter Cardiovascular phenotype ⚠
• p.Gly944Glu Single submitter Cardiovascular phenotype ⚠
• p.Gly980Ala Single submitter Cardiovascular phenotype ⚠
• p.Gly985Glu Single submitter Cardiovascular phenotype ⚠
• p.Gly989Arg Single submitter Cardiovascular phenotype ⚠
• p.His56= Single submitter Cardiovascular phenotype
• p.His786Arg Single submitter Cardiovascular phenotype ⚠
• p.His913Pro Single submitter Cardiovascular phenotype ⚠
• p.Ile1469Thr Single submitter Cardiovascular phenotype ⚠
• p.Ile584Val Single submitter Cardiovascular phenotype ⚠
• p.Ile616Met Single submitter Cardiovascular phenotype ⚠
• p.Leu1115Pro Single submitter ⚠
• p.Leu1366Met Single submitter Cardiovascular phenotype ⚠
• p.Leu1589Phe Single submitter Cardiovascular phenotype
• p.Leu1689Val Single submitter Cardiovascular phenotype ⚠
• p.Leu429Pro Single submitter Cardiovascular phenotype ⚠
• p.Leu916Pro Single submitter Cardiovascular phenotype ⚠
• p.Lys1483Arg Single submitter Cardiovascular phenotype ⚠
• p.Lys329Asn Single submitter Cardiovascular phenotype ⚠
• p.Lys767Glu Single submitter Cardiovascular phenotype ⚠
• p.Met1386Val Single submitter Cardiovascular phenotype ⚠
• p.Met1550Val Single submitter Cardiovascular phenotype ⚠
• p.Met172Arg Single submitter cardiomyopathy, familial hypertrophic 27
• p.Met418Ile Single submitter Cardiovascular phenotype
• p.Met563Arg Single submitter Cardiovascular phenotype ⚠
• p.Met661Lys Single submitter cardiomyopathy, familial hypertrophic 27 ⚠
• p.Met662Ile Single submitter Cardiovascular phenotype ⚠
• p.Met906Leu Single submitter Cardiovascular phenotype ⚠
• p.Phe478Tyr Single submitter Cardiovascular phenotype ⚠
• p.Pro1541Leu Single submitter Cardiovascular phenotype ⚠
• p.Pro1628Leu Single submitter cardiomyopathy, familial hypertrophic 27 ⚠
• p.Pro233Leu Single submitter Cardiovascular phenotype ⚠
• p.Pro238Ser Single submitter Cardiovascular phenotype ⚠
• p.Pro517Ala Single submitter Cardiovascular phenotype ⚠
• p.Pro561Ser Single submitter Cardiovascular phenotype ⚠
• p.Pro804Leu Single submitter Cardiovascular phenotype ⚠
• p.Pro826Leu Single submitter Cardiovascular phenotype ⚠
• p.Pro835Leu Single submitter Cardiovascular phenotype ⚠
• p.Pro844Leu Single submitter Cardiovascular phenotype ⚠
• p.Pro848Leu Single submitter Cardiovascular phenotype ⚠
• p.Pro865Thr Single submitter Cardiovascular phenotype ⚠
• p.Pro883Leu Single submitter Cardiovascular phenotype ⚠
• p.Pro887Leu Single submitter Cardiovascular phenotype ⚠
• p.Pro887Ser Single submitter Cardiovascular phenotype ⚠
• p.Ser1199Asn Single submitter Cardiovascular phenotype ⚠
• p.Ser1322= Single submitter Cardiovascular phenotype
• p.Ser1354Leu Single submitter Cardiovascular phenotype ⚠
• p.Ser1395Cys Single submitter cardiomyopathy, familial hypertrophic 27 ⚠
• p.Ser1408= Single submitter Cardiovascular phenotype
• p.Ser1455Arg Single submitter Cardiovascular phenotype
• p.Ser1546Thr Single submitter Cardiovascular phenotype ⚠
• p.Ser1650Pro Single submitter Cardiovascular phenotype ⚠
• p.Ser199Gly Single submitter Cardiovascular phenotype ⚠
• p.Ser348Asn Single submitter Cardiovascular phenotype ⚠
• p.Ser456Arg Single submitter Cardiovascular phenotype ⚠
• p.Ser564Leu Single submitter Cardiovascular phenotype ⚠
• p.Ser59Pro Single submitter cardiomyopathy, familial hypertrophic 27 ⚠
• p.Ser62= Single submitter Cardiovascular phenotype
• p.Ser656Asn Single submitter Cardiovascular phenotype ⚠
• p.Ser885Gly Single submitter Cardiovascular phenotype ⚠
• p.Thr101Ala Single submitter cardiomyopathy, familial hypertrophic 27 ⚠
• p.Thr1029Asn Single submitter Cardiovascular phenotype ⚠
• p.Thr1149Ile Single submitter Cardiovascular phenotype ⚠
• p.Thr115Met Single submitter Cardiovascular phenotype ⚠
• p.Thr1190Ala Single submitter Cardiovascular phenotype ⚠
• p.Thr1190Met Single submitter Cardiovascular phenotype ⚠
• p.Thr1347Ile Single submitter Cardiovascular phenotype ⚠
• p.Thr1677Ile Single submitter ⚠
• p.Thr239Ile Single submitter Cardiovascular phenotype ⚠
• p.Thr471Ile Single submitter Cardiovascular phenotype ⚠
• p.Thr539Met Single submitter Cardiovascular phenotype ⚠
• p.Thr578Ser Single submitter Cardiovascular phenotype ⚠
• p.Thr639Met Single submitter Cardiovascular phenotype ⚠
• p.Thr744Ala Single submitter Cardiovascular phenotype ⚠
• p.Thr81Ile Single submitter Cardiovascular phenotype ⚠
• p.Thr82Met Single submitter Cardiovascular phenotype
• p.Thr886Ile Single submitter Cardiovascular phenotype ⚠
• p.Thr918Ile Single submitter Cardiovascular phenotype ⚠
• p.Val1251Ala Single submitter Cardiovascular phenotype ⚠
• p.Val1461Leu Single submitter Cardiovascular phenotype ⚠
• p.Val361Met Single submitter Cardiovascular phenotype ⚠
• p.Val610Met Single submitter Cardiovascular phenotype ⚠
• p.Val779Ala Single submitter Cardiovascular phenotype ⚠

Benign 44

• c.1654-81C>T Multiple submitters
• c.183-118C>G Multiple submitters
• c.305-18C>A Multiple submitters
• c.3818-43G>A Multiple submitters
• c.3965+174A>G Multiple submitters
• c.3966-95T>C Multiple submitters
• c.4129+37C>T Multiple submitters
• c.4411-289A>C Multiple submitters
• c.4500-109A>C Multiple submitters
• c.-74A>C Multiple submitters
• c.*254A>G Multiple submitters
• c.*5C>T Multiple submitters
• p.Asp1237= Multiple submitters Cardiovascular phenotype
• p.Gln726Arg Multiple submitters cardiomyopathy, familial hypertrophic 27
• p.Glu1318= Multiple submitters Cardiovascular phenotype
• p.Glu811Lys Multiple submitters cardiomyopathy, familial hypertrophic 27
• p.Gly1150= Multiple submitters Cardiovascular phenotype
• p.Pro1097Leu Multiple submitters Cardiovascular phenotype
• p.Pro844Ser Multiple submitters cardiomyopathy, familial hypertrophic 27
• p.Thr559Met Multiple submitters cardiomyopathy, familial hypertrophic 27
• c.143+18dup Single submitter
• c.143+216T>G Single submitter
• c.1653+268A>G Single submitter
• c.1654-174T>C Single submitter
• c.175C>G Single submitter
• c.183-7C>T Single submitter
• c.194A>G Single submitter
• c.24T>C Single submitter
• c.305-276C>T Single submitter
• c.305-341_305-340insAT Single submitter
• c.305-341_305-340insATTAT Single submitter
• c.305-341_305-340insATTATTAT Single submitter
• c.305-341_305-340insATTATTATTAT Single submitter
• c.305-341del Single submitter
• c.3818-235C>T Single submitter
• c.4129+14dup Single submitter
• c.4129+193G>A Single submitter
• c.4130-210G>C Single submitter
• c.4130-230A>T Single submitter
• c.436_440dup Single submitter
• c.4500-201A>G Single submitter
• c.4772+308C>T Single submitter
• c.4773-293G>A Single submitter
• p.Thr357Ile Single submitter

Benign/Likely benign 43

• c.182+9A>G Multiple submitters
• c.3965+11G>A Multiple submitters
• c.3966-14T>C Multiple submitters
• c.4093+15C>T Multiple submitters
• c.423-19del Multiple submitters cardiomyopathy, familial hypertrophic 27
• p.Ala1118Val Multiple submitters Cardiovascular phenotype
• p.Ala1221= Multiple submitters Cardiovascular phenotype
• p.Ala1355Asp Multiple submitters cardiomyopathy, familial hypertrophic 27
• p.Ala1486= Multiple submitters Cardiovascular phenotype
• p.Ala1492Thr Multiple submitters cardiomyopathy, familial hypertrophic 27
• p.Ala1671Val Multiple submitters Cardiovascular phenotype
• p.Ala35Val Multiple submitters cardiomyopathy, familial hypertrophic 27
• p.Ala937= Multiple submitters cardiomyopathy, familial hypertrophic 27
• p.Arg1210Trp Multiple submitters cardiomyopathy, familial hypertrophic 27
• p.Arg134His Multiple submitters cardiomyopathy, familial hypertrophic 27
• p.Arg53Gln Multiple submitters Cardiovascular phenotype
• p.Asp1077= Multiple submitters Cardiovascular phenotype
• p.Asp570= Multiple submitters Cardiovascular phenotype
• p.Asp93= Multiple submitters Cardiovascular phenotype
• p.Cys1341= Multiple submitters Cardiovascular phenotype
• p.Cys508Gly Multiple submitters cardiomyopathy, familial hypertrophic 27
• p.Gln1121Arg Multiple submitters cardiomyopathy, familial hypertrophic 27
• p.Gln400Arg Multiple submitters cardiomyopathy, familial hypertrophic 27
• p.Glu1697= Multiple submitters Cardiovascular phenotype
• p.Glu241= Multiple submitters
• p.Glu754= Multiple submitters Cardiovascular phenotype
• p.Gly377Glu Multiple submitters Cardiovascular phenotype
• p.Gly461Asp Multiple submitters Cardiovascular phenotype
• p.Leu1420Pro Multiple submitters Cardiovascular phenotype ⚠
• p.Leu41= Multiple submitters Cardiovascular phenotype
• p.Lys188= Multiple submitters Cardiovascular phenotype
• p.Pro1208= Multiple submitters Cardiovascular phenotype
• p.Pro446Thr Multiple submitters Cardiovascular phenotype
• p.Pro865= Multiple submitters Cardiovascular phenotype
• p.Ser1289= Multiple submitters Cardiovascular phenotype
• p.Ser579= Multiple submitters Cardiovascular phenotype
• p.Ser823= Multiple submitters Cardiovascular phenotype
• p.Thr136Ile Multiple submitters Cardiovascular phenotype
• p.Thr212Ser Multiple submitters Cardiovascular phenotype
• p.Thr294= Multiple submitters Cardiovascular phenotype
• p.Thr789= Multiple submitters Cardiovascular phenotype
• p.Thr866Met Multiple submitters cardiomyopathy, familial hypertrophic 27
• p.Tyr295Cys Multiple submitters cardiomyopathy, familial hypertrophic 27

Likely benign 804

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

• c.144-16T>C Multiple submitters
• c.182+23T>G Multiple submitters
• c.183-17C>T Multiple submitters
• c.3817+124C>T Multiple submitters
• c.3817+15G>A Multiple submitters cardiomyopathy, familial hypertrophic 27
• c.3965+101C>T Multiple submitters
• c.4093+16G>A Multiple submitters
• c.4093+37C>T Multiple submitters
• c.4094-6A>G Multiple submitters
• c.4129+97A>G Multiple submitters
• c.422+18G>A Multiple submitters
• c.4499+14G>A Multiple submitters cardiomyopathy, familial hypertrophic 27
• c.4499+20G>A Multiple submitters
• c.4499+9G>A Multiple submitters
• c.4500-11A>T Multiple submitters
• c.4500-9T>C Multiple submitters
• c.4723+16G>A Multiple submitters
• c.4723+23G>A Multiple submitters
• c.4723+8G>C Multiple submitters
• c.9G>A Multiple submitters
• c.-10G>A Multiple submitters Cardiovascular phenotype
• c.-13G>C Multiple submitters Cardiovascular phenotype
• c.-22G>A Multiple submitters Cardiovascular phenotype
• c.-28G>C Multiple submitters Cardiovascular phenotype
• c.-43G>A Multiple submitters Cardiovascular phenotype
• c.-64C>G Multiple submitters Cardiovascular phenotype
• c.-85G>A Multiple submitters Cardiovascular phenotype
• c.*49G>A Multiple submitters
• p.Ala1118= Multiple submitters Cardiovascular phenotype
• p.Ala1229= Multiple submitters Cardiovascular phenotype
• p.Ala1234= Multiple submitters Cardiovascular phenotype
• p.Ala1244= Multiple submitters Cardiovascular phenotype
• p.Ala1252= Multiple submitters Cardiovascular phenotype
• p.Ala1262= Multiple submitters Cardiovascular phenotype
• p.Ala1288= Multiple submitters Cardiovascular phenotype
• p.Ala1329= Multiple submitters Cardiovascular phenotype
• p.Ala1389= Multiple submitters Cardiovascular phenotype
• p.Ala1491= Multiple submitters Cardiovascular phenotype
• p.Ala1492= Multiple submitters Cardiovascular phenotype
• p.Ala1602= Multiple submitters Cardiovascular phenotype
• p.Ala1630= Multiple submitters Cardiovascular phenotype
• p.Ala1701= Multiple submitters
• p.Ala183= Multiple submitters Cardiovascular phenotype
• p.Ala19= Multiple submitters Cardiovascular phenotype
• p.Ala190= Multiple submitters Cardiovascular phenotype
• p.Ala230= Multiple submitters Cardiovascular phenotype
• p.Ala248= Multiple submitters Cardiovascular phenotype
• p.Ala281= Multiple submitters Cardiovascular phenotype
• p.Ala375= Multiple submitters Cardiovascular phenotype
• p.Ala510= Multiple submitters Cardiovascular phenotype
• p.Ala560= Multiple submitters Cardiovascular phenotype
• p.Ala612= Multiple submitters Cardiovascular phenotype
• p.Ala716= Multiple submitters Cardiovascular phenotype
• p.Ala719= Multiple submitters
• p.Ala745= Multiple submitters Cardiovascular phenotype
• p.Ala778= Multiple submitters Cardiovascular phenotype
• p.Ala782= Multiple submitters Cardiovascular phenotype
• p.Ala881= Multiple submitters Cardiovascular phenotype
• p.Ala909= Multiple submitters Cardiovascular phenotype
• p.Ala978= Multiple submitters Cardiovascular phenotype
• p.Arg1164= Multiple submitters Cardiovascular phenotype
• p.Arg1321= Multiple submitters Cardiovascular phenotype
• p.Arg1509= Multiple submitters Cardiovascular phenotype
• p.Arg1533= Multiple submitters Cardiovascular phenotype
• p.Arg225= Multiple submitters Cardiovascular phenotype
• p.Arg536= Multiple submitters Cardiovascular phenotype
• p.Arg623= Multiple submitters Cardiovascular phenotype
• p.Arg817= Multiple submitters Cardiovascular phenotype
• p.Arg843= Multiple submitters Cardiovascular phenotype
• p.Arg9= Multiple submitters Cardiovascular phenotype
• p.Asn1476= Multiple submitters Cardiovascular phenotype
• p.Asn277= Multiple submitters Cardiovascular phenotype
• p.Asn284= Multiple submitters Cardiovascular phenotype
• p.Asn422= Multiple submitters Cardiovascular phenotype
• p.Asn479= Multiple submitters Cardiovascular phenotype
• p.Asp1177= Multiple submitters Cardiovascular phenotype
• p.Asp146= Multiple submitters Cardiovascular phenotype
• p.Asp1466= Multiple submitters Cardiovascular phenotype
• p.Asp1522= Multiple submitters Cardiovascular phenotype
• p.Asp25= Multiple submitters Cardiovascular phenotype
• p.Asp287= Multiple submitters Cardiovascular phenotype
• p.Asp298= Multiple submitters
• p.Cys1397= Multiple submitters Cardiovascular phenotype
• p.Cys555= Multiple submitters Cardiovascular phenotype
• p.Cys936= Multiple submitters Cardiovascular phenotype
• p.Gln151= Multiple submitters Cardiovascular phenotype
• p.Gln1562= Multiple submitters Cardiovascular phenotype
• p.Gln1634= Multiple submitters Cardiovascular phenotype
• p.Gln1691= Multiple submitters
• p.Gln664= Multiple submitters Cardiovascular phenotype
• p.Gln852= Multiple submitters Cardiovascular phenotype
• p.Glu105= Multiple submitters
• p.Glu1410= Multiple submitters Cardiovascular phenotype
• p.Glu1437= Multiple submitters Cardiovascular phenotype
• p.Glu1528= Multiple submitters Cardiovascular phenotype
• p.Glu197= Multiple submitters Cardiovascular phenotype
• p.Glu203= Multiple submitters Cardiovascular phenotype
• p.Glu351= Multiple submitters Cardiovascular phenotype
• p.Glu364= Multiple submitters Cardiovascular phenotype
• p.Glu491= Multiple submitters Cardiovascular phenotype
• p.Glu777= Multiple submitters cardiomyopathy, familial hypertrophic 27
• p.Glu807= Multiple submitters
• p.Gly1127= Multiple submitters Cardiovascular phenotype
• p.Gly1195= Multiple submitters Cardiovascular phenotype
• p.Gly12= Multiple submitters Cardiovascular phenotype
• p.Gly1245= Multiple submitters Cardiovascular phenotype
• p.Gly1391= Multiple submitters Cardiovascular phenotype
• p.Gly1396= Multiple submitters Cardiovascular phenotype
• p.Gly1399= Multiple submitters Cardiovascular phenotype
• p.Gly1417= Multiple submitters Cardiovascular phenotype
• p.Gly1419= Multiple submitters Cardiovascular phenotype
• p.Gly1431= Multiple submitters Cardiovascular phenotype
• p.Gly159= Multiple submitters Cardiovascular phenotype
• p.Gly1666= Multiple submitters Cardiovascular phenotype
• p.Gly170= Multiple submitters Cardiovascular phenotype
• p.Gly2= Multiple submitters Cardiovascular phenotype
• p.Gly208= Multiple submitters Cardiovascular phenotype
• p.Gly234= Multiple submitters Cardiovascular phenotype
• p.Gly377= Multiple submitters
• p.Gly458= Multiple submitters Cardiovascular phenotype
• p.Gly461= Multiple submitters Cardiovascular phenotype
• p.Gly596= Multiple submitters Cardiovascular phenotype
• p.Gly746= Multiple submitters Cardiovascular phenotype
• p.Gly792= Multiple submitters
• p.Gly892= Multiple submitters Cardiovascular phenotype
• p.Gly980= Multiple submitters Cardiovascular phenotype
• p.His1352= Multiple submitters Cardiovascular phenotype
• p.His1558= Multiple submitters Cardiovascular phenotype
• p.His1611= Multiple submitters Cardiovascular phenotype
• p.His891= Multiple submitters Cardiovascular phenotype
• p.Ile1333= Multiple submitters Cardiovascular phenotype
• p.Ile31= Multiple submitters Cardiovascular phenotype
• p.Ile585= Multiple submitters Cardiovascular phenotype
• p.Leu1015= Multiple submitters Cardiovascular phenotype
• p.Leu1031= Multiple submitters Cardiovascular phenotype
• p.Leu1115= Multiple submitters Cardiovascular phenotype
• p.Leu1238= Multiple submitters Cardiovascular phenotype
• p.Leu1253= Multiple submitters Cardiovascular phenotype
• p.Leu1361= Multiple submitters Cardiovascular phenotype
• p.Leu1449= Multiple submitters Cardiovascular phenotype
• p.Leu1652= Multiple submitters Cardiovascular phenotype
• p.Leu1688= Multiple submitters Cardiovascular phenotype
• p.Leu185= Multiple submitters Cardiovascular phenotype
• p.Leu227= Multiple submitters Cardiovascular phenotype
• p.Leu265= Multiple submitters Cardiovascular phenotype
• p.Leu470= Multiple submitters Cardiovascular phenotype
• p.Leu71= Multiple submitters Cardiovascular phenotype
• p.Leu741= Multiple submitters Cardiovascular phenotype
• p.Leu751= Multiple submitters Cardiovascular phenotype
• p.Leu794= Multiple submitters Cardiovascular phenotype
• p.Leu798= Multiple submitters Cardiovascular phenotype
• p.Leu800= Multiple submitters Cardiovascular phenotype
• p.Leu83= Multiple submitters Cardiovascular phenotype
• p.Leu898= Multiple submitters Cardiovascular phenotype
• p.Leu916= Multiple submitters Cardiovascular phenotype
• p.Lys1658= Multiple submitters Cardiovascular phenotype
• p.Lys184= Multiple submitters
• p.Lys316= Multiple submitters Cardiovascular phenotype
• p.Lys615= Multiple submitters Cardiovascular phenotype
• p.Lys740= Multiple submitters Cardiovascular phenotype
• p.Lys880= Multiple submitters Cardiovascular phenotype
• p.Phe1436= Multiple submitters Cardiovascular phenotype
• p.Phe1485= Multiple submitters Cardiovascular phenotype
• p.Phe1607= Multiple submitters Cardiovascular phenotype
• p.Pro1008= Multiple submitters Cardiovascular phenotype
• p.Pro1152= Multiple submitters Cardiovascular phenotype
• p.Pro1240= Multiple submitters Cardiovascular phenotype
• p.Pro1328= Multiple submitters Cardiovascular phenotype
• p.Pro1338= Multiple submitters Cardiovascular phenotype
• p.Pro1363= Multiple submitters Cardiovascular phenotype
• p.Pro1503= Multiple submitters Cardiovascular phenotype
• p.Pro1526= Multiple submitters
• p.Pro1541= Multiple submitters Cardiovascular phenotype
• p.Pro1628= Multiple submitters Cardiovascular phenotype
• p.Pro1633= Multiple submitters Cardiovascular phenotype
• p.Pro218= Multiple submitters Cardiovascular phenotype
• p.Pro233= Multiple submitters Cardiovascular phenotype
• p.Pro235= Multiple submitters Cardiovascular phenotype
• p.Pro242= Multiple submitters Cardiovascular phenotype
• p.Pro32= Multiple submitters
• p.Pro45= Multiple submitters Cardiovascular phenotype
• p.Pro472= Multiple submitters
• p.Pro474= Multiple submitters Cardiovascular phenotype
• p.Pro528= Multiple submitters Cardiovascular phenotype
• p.Pro7= Multiple submitters
• p.Pro735= Multiple submitters cardiomyopathy, familial hypertrophic 27
• p.Pro750= Multiple submitters Cardiovascular phenotype
• p.Pro766= Multiple submitters Cardiovascular phenotype
• p.Pro77= Multiple submitters Cardiovascular phenotype
• p.Pro793= Multiple submitters Cardiovascular phenotype
• p.Pro804= Multiple submitters Cardiovascular phenotype
• p.Pro835= Multiple submitters Cardiovascular phenotype
• p.Pro848= Multiple submitters Cardiovascular phenotype
• p.Pro856= Multiple submitters Cardiovascular phenotype
• p.Pro879= Multiple submitters Cardiovascular phenotype
• p.Pro883= Multiple submitters Cardiovascular phenotype
• p.Pro887= Multiple submitters Cardiovascular phenotype
• p.Ser1011= Multiple submitters Cardiovascular phenotype
• p.Ser1067= Multiple submitters Cardiovascular phenotype
• p.Ser1068= Multiple submitters Cardiovascular phenotype
• p.Ser1199= Multiple submitters Cardiovascular phenotype
• p.Ser1214= Multiple submitters Cardiovascular phenotype
• p.Ser1356= Multiple submitters Cardiovascular phenotype
• p.Ser1438= Multiple submitters Cardiovascular phenotype
• p.Ser199= Multiple submitters Cardiovascular phenotype
• p.Ser228= Multiple submitters Cardiovascular phenotype
• p.Ser236= Multiple submitters Cardiovascular phenotype
• p.Ser341= Multiple submitters Cardiovascular phenotype
• p.Ser36= Multiple submitters Cardiovascular phenotype
• p.Ser469= Multiple submitters Cardiovascular phenotype
• p.Ser50= Multiple submitters Cardiovascular phenotype
• p.Ser521= Multiple submitters Cardiovascular phenotype
• p.Ser55= Multiple submitters Cardiovascular phenotype
• p.Ser564= Multiple submitters Cardiovascular phenotype
• p.Ser715= Multiple submitters Cardiovascular phenotype
• p.Ser724= Multiple submitters Cardiovascular phenotype
• p.Ser795= Multiple submitters Cardiovascular phenotype
• p.Ser8= Multiple submitters Cardiovascular phenotype
• p.Ser89= Multiple submitters Cardiovascular phenotype
• p.Ser92= Multiple submitters Cardiovascular phenotype
• p.Thr1010= Multiple submitters Cardiovascular phenotype
• p.Thr1041= Multiple submitters Cardiovascular phenotype
• p.Thr115= Multiple submitters Cardiovascular phenotype
• p.Thr1190= Multiple submitters Cardiovascular phenotype
• p.Thr1216= Multiple submitters Cardiovascular phenotype
• p.Thr1260= Multiple submitters Cardiovascular phenotype
• p.Thr129= Multiple submitters Cardiovascular phenotype
• p.Thr1308= Multiple submitters
• p.Thr1347= Multiple submitters cardiomyopathy, familial hypertrophic 27
• p.Thr1357= Multiple submitters Cardiovascular phenotype
• p.Thr1384= Multiple submitters Cardiovascular phenotype
• p.Thr1441= Multiple submitters Cardiovascular phenotype
• p.Thr1667= Multiple submitters Cardiovascular phenotype
• p.Thr1677= Multiple submitters Cardiovascular phenotype
• p.Thr1694= Multiple submitters Cardiovascular phenotype
• p.Thr275= Multiple submitters Cardiovascular phenotype
• p.Thr368= Multiple submitters Cardiovascular phenotype
• p.Thr386= Multiple submitters Cardiovascular phenotype
• p.Thr526= Multiple submitters Cardiovascular phenotype
• p.Thr539= Multiple submitters Cardiovascular phenotype
• p.Thr559= Multiple submitters Cardiovascular phenotype
• p.Thr562= Multiple submitters Cardiovascular phenotype
• p.Thr622= Multiple submitters Cardiovascular phenotype
• p.Thr639= Multiple submitters Cardiovascular phenotype
• p.Thr674= Multiple submitters Cardiovascular phenotype
• p.Thr710= Multiple submitters Cardiovascular phenotype
• p.Thr730= Multiple submitters Cardiovascular phenotype
• p.Thr738= Multiple submitters Cardiovascular phenotype
• p.Thr82= Multiple submitters Cardiovascular phenotype
• p.Thr866= Multiple submitters Cardiovascular phenotype
• p.Thr896= Multiple submitters Cardiovascular phenotype
• p.Thr918= Multiple submitters Cardiovascular phenotype
• p.Thr975= Multiple submitters Cardiovascular phenotype
• p.Thr988= Multiple submitters Cardiovascular phenotype
• p.Tyr126= Multiple submitters Cardiovascular phenotype
• p.Tyr1430= Multiple submitters Cardiovascular phenotype
• p.Tyr1465= Multiple submitters Cardiovascular phenotype
• p.Val1191= Multiple submitters Cardiovascular phenotype
• p.Val161= Multiple submitters Cardiovascular phenotype
• p.Val166= Multiple submitters Cardiovascular phenotype
• p.Val1684= Multiple submitters Cardiovascular phenotype
• p.Val210= Multiple submitters Cardiovascular phenotype
• p.Val610= Multiple submitters Cardiovascular phenotype
• p.Val790= Multiple submitters Cardiovascular phenotype
• p.Val939= Multiple submitters Cardiovascular phenotype
• c.116C>T Single submitter Cardiovascular phenotype
• c.143+11C>G Single submitter
• c.143+12C>A Single submitter
• c.143+18G>A Single submitter
• c.143+6_143+42dup Single submitter
• c.143+8G>C Single submitter
• c.144-14C>T Single submitter
• c.144-15G>A Single submitter
• c.144-15G>T Single submitter
• c.144-19A>C Single submitter
• c.144-20C>T Single submitter
• c.144-28A>G Single submitter
• c.144-4T>G Single submitter
• c.144-5C>T Single submitter
• c.144-83G>A Single submitter
• c.144-8T>C Single submitter
• c.1653+10G>A Single submitter
• c.1653+17G>A Single submitter
• c.182+7G>A Single submitter
• c.183-10C>T Single submitter
• c.183-128C>T Single submitter
• c.183-16_183-15delinsAT Single submitter
• c.183-172C>T Single submitter
• c.183-17C>G Single submitter
• c.183-242C>T Single submitter
• c.183-248C>G Single submitter
• c.183-7C>G Single submitter
• c.183-8T>C Single submitter
• c.183-9C>A Single submitter
• c.198G>A Single submitter Cardiovascular phenotype
• c.243G>A Single submitter Cardiovascular phenotype
• c.245A>C Single submitter Cardiovascular phenotype
• c.304+12G>A Single submitter
• c.304+12G>C Single submitter
• c.304+155C>G Single submitter

Uncertain significance 1613

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

• c.3818-3C>T Multiple submitters Cardiovascular phenotype
• c.393dupG Multiple submitters Cardiovascular phenotype
• c.399dupC Multiple submitters Cardiovascular phenotype
• c.4093+4A>C Multiple submitters Cardiovascular phenotype
• c.4093+5G>C Multiple submitters Cardiovascular phenotype
• c.4129+4T>C Multiple submitters Cardiovascular phenotype
• c.4411-3C>T Multiple submitters Cardiovascular phenotype
• c.4723+5G>A Multiple submitters Cardiovascular phenotype
• c.-14G>A Multiple submitters Cardiovascular phenotype ⚠
• c.-23C>T Multiple submitters Cardiovascular phenotype ⚠
• c.-27G>C Multiple submitters Cardiovascular phenotype ⚠
• c.-36G>A Multiple submitters Cardiovascular phenotype ⚠
• c.-43G>T Multiple submitters Cardiovascular phenotype ⚠
• c.-57T>C Multiple submitters Cardiovascular phenotype ⚠
• c.-63G>C Multiple submitters Cardiovascular phenotype ⚠
• c.-66G>A Multiple submitters Cardiovascular phenotype ⚠
• c.-69G>A Multiple submitters Cardiovascular phenotype ⚠
• c.-74G>T Multiple submitters Cardiovascular phenotype ⚠
• c.-76G>C Multiple submitters Cardiovascular phenotype ⚠
• c.-77G>A Multiple submitters Cardiovascular phenotype ⚠
• c.-83C>T Multiple submitters Cardiovascular phenotype ⚠
• c.-84G>A Multiple submitters Cardiovascular phenotype ⚠
• c.-89C>T Multiple submitters Cardiovascular phenotype ⚠
• c.-90G>A Multiple submitters Cardiovascular phenotype ⚠
• p.403PG[4] Multiple submitters
• p.698MQGEKG[1] Multiple submitters Cardiovascular phenotype
• p.Ala1054Gly Multiple submitters Cardiovascular phenotype ⚠
• p.Ala1057Thr Multiple submitters Cardiovascular phenotype ⚠
• p.Ala1058Thr Multiple submitters Cardiovascular phenotype ⚠
• p.Ala1088Val Multiple submitters Cardiovascular phenotype ⚠
• p.Ala1134Thr Multiple submitters Cardiovascular phenotype ⚠
• p.Ala1163Thr Multiple submitters Cardiovascular phenotype
• p.Ala1163Val Multiple submitters Cardiovascular phenotype
• p.Ala1174Glu Multiple submitters Cardiovascular phenotype ⚠
• p.Ala1175Gly Multiple submitters Cardiovascular phenotype ⚠
• p.Ala1175Thr Multiple submitters Cardiovascular phenotype ⚠
• p.Ala1389Thr Multiple submitters Cardiovascular phenotype ⚠
• p.Ala1423Pro Multiple submitters Cardiovascular phenotype
• p.Ala1486Pro Multiple submitters Cardiovascular phenotype ⚠
• p.Ala1486Thr Multiple submitters Cardiovascular phenotype
• p.Ala1489Val Multiple submitters Cardiovascular phenotype
• p.Ala148Thr Multiple submitters Cardiovascular phenotype ⚠
• p.Ala1517Pro Multiple submitters Cardiovascular phenotype
• p.Ala154Val Multiple submitters Cardiovascular phenotype ⚠
• p.Ala1608Thr Multiple submitters Cardiovascular phenotype ⚠
• p.Ala1637Gly Multiple submitters Cardiovascular phenotype ⚠
• p.Ala1676Val Multiple submitters Cardiovascular phenotype ⚠
• p.Ala299Asp Multiple submitters Cardiovascular phenotype
• p.Ala307Pro Multiple submitters Cardiovascular phenotype ⚠
• p.Ala335Ser Multiple submitters ⚠
• p.Ala392Val Multiple submitters Cardiovascular phenotype ⚠
• p.Ala450Thr Multiple submitters Cardiovascular phenotype ⚠
• p.Ala462Thr Multiple submitters Cardiovascular phenotype ⚠
• p.Ala510Ser Multiple submitters Cardiovascular phenotype ⚠
• p.Ala529Val Multiple submitters Cardiovascular phenotype ⚠
• p.Ala572Thr Multiple submitters Cardiovascular phenotype ⚠
• p.Ala69Val Multiple submitters Cardiovascular phenotype ⚠
• p.Ala6Pro Multiple submitters Cardiovascular phenotype ⚠
• p.Ala716Val Multiple submitters Cardiovascular phenotype ⚠
• p.Ala729Thr Multiple submitters Cardiovascular phenotype ⚠
• p.Ala782Ile Multiple submitters Cardiovascular phenotype
• p.Ala782Val Multiple submitters Cardiovascular phenotype ⚠
• p.Ala935Pro Multiple submitters Cardiovascular phenotype ⚠
• p.Ala935Ser Multiple submitters ⚠
• p.Ala937Thr Multiple submitters Cardiovascular phenotype ⚠
• p.Ala937Val Multiple submitters Cardiovascular phenotype ⚠
• p.Arg1009Pro Multiple submitters Cardiovascular phenotype
• p.Arg1009Trp Multiple submitters Cardiovascular phenotype
• p.Arg1013His Multiple submitters cardiomyopathy, familial hypertrophic 27 ⚠
• p.Arg1017Cys Multiple submitters Cardiovascular phenotype ⚠
• p.Arg1038Cys Multiple submitters Cardiovascular phenotype
• p.Arg1038His Multiple submitters Cardiovascular phenotype
• p.Arg1039Cys Multiple submitters Cardiovascular phenotype
• p.Arg1039His Multiple submitters Cardiovascular phenotype
• p.Arg1052Cys Multiple submitters Cardiovascular phenotype ⚠
• p.Arg1052His Multiple submitters Cardiovascular phenotype ⚠
• p.Arg1164Gln Multiple submitters cardiomyopathy, familial hypertrophic 27
• p.Arg1164Trp Multiple submitters Cardiovascular phenotype
• p.Arg1194Gln Multiple submitters Cardiovascular phenotype ⚠
• p.Arg1194Trp Multiple submitters Cardiovascular phenotype ⚠
• p.Arg119Cys Multiple submitters Cardiovascular phenotype
• p.Arg1213Cys Multiple submitters Cardiovascular phenotype ⚠
• p.Arg1213His Multiple submitters Cardiovascular phenotype ⚠
• p.Arg1265Lys Multiple submitters Cardiovascular phenotype ⚠
• p.Arg1281Gln Multiple submitters
• p.Arg1281Trp Multiple submitters Cardiovascular phenotype ⚠
• p.Arg1345Gln Multiple submitters Cardiovascular phenotype ⚠
• p.Arg1345Trp Multiple submitters Cardiovascular phenotype ⚠
• p.Arg134Cys Multiple submitters Cardiovascular phenotype ⚠
• p.Arg1405Gln Multiple submitters Cardiovascular phenotype
• p.Arg1405Leu Multiple submitters Cardiovascular phenotype ⚠
• p.Arg1412Leu Multiple submitters Cardiovascular phenotype ⚠
• p.Arg1421Gln Multiple submitters Cardiovascular phenotype ⚠
• p.Arg1421Trp Multiple submitters Cardiovascular phenotype ⚠
• p.Arg1440Cys Multiple submitters Cardiovascular phenotype ⚠
• p.Arg1440His Multiple submitters Cardiovascular phenotype ⚠
• p.Arg1479Gln Multiple submitters Cardiovascular phenotype
• p.Arg1479Trp Multiple submitters Cardiovascular phenotype
• p.Arg1509Trp Multiple submitters Cardiovascular phenotype ⚠
• p.Arg1533Gln Multiple submitters Cardiovascular phenotype ⚠
• p.Arg1533Leu Multiple submitters Cardiovascular phenotype ⚠
• p.Arg1533Trp Multiple submitters Cardiovascular phenotype ⚠
• p.Arg1590Gln Multiple submitters Cardiovascular phenotype ⚠
• p.Arg1647Lys Multiple submitters Cardiovascular phenotype ⚠
• p.Arg1647Trp Multiple submitters Cardiovascular phenotype
• p.Arg1668Gln Multiple submitters Cardiovascular phenotype
• p.Arg1668Trp Multiple submitters Cardiovascular phenotype
• p.Arg16Pro Multiple submitters Cardiovascular phenotype ⚠
• p.Arg1705Trp Multiple submitters Cardiovascular phenotype ⚠
• p.Arg187Leu Multiple submitters Cardiovascular phenotype ⚠
• p.Arg214Leu Multiple submitters Cardiovascular phenotype
• p.Arg220Cys Multiple submitters Cardiovascular phenotype
• p.Arg226Gln Multiple submitters Cardiovascular phenotype
• p.Arg371Thr Multiple submitters Cardiovascular phenotype ⚠
• p.Arg376Gln Multiple submitters Cardiovascular phenotype ⚠
• p.Arg376Gly Multiple submitters Cardiovascular phenotype ⚠
• p.Arg37Trp Multiple submitters Cardiovascular phenotype
• p.Arg427Trp Multiple submitters Cardiovascular phenotype ⚠
• p.Arg440Trp Multiple submitters Cardiovascular phenotype ⚠
• p.Arg4Leu Multiple submitters Cardiovascular phenotype
• p.Arg530Leu Multiple submitters Cardiovascular phenotype
• p.Arg530Trp Multiple submitters ALPK3-associated recessive cardiomyopathy ⚠
• p.Arg531Gly Multiple submitters Cardiovascular phenotype ⚠
• p.Arg532Gly Multiple submitters Cardiovascular phenotype ⚠
• p.Arg536Gln Multiple submitters Cardiovascular phenotype ⚠
• p.Arg53Trp Multiple submitters Cardiovascular phenotype ⚠
• p.Arg634His Multiple submitters Cardiovascular phenotype ⚠
• p.Arg86Gln Multiple submitters Cardiovascular phenotype ⚠
• p.Arg86Trp Multiple submitters ALPK3-related disorder ⚠
• p.Arg950Trp Multiple submitters Cardiovascular phenotype ⚠
• p.Arg9Gln Multiple submitters Cardiovascular phenotype ⚠
• p.Asn1021Thr Multiple submitters Cardiovascular phenotype
• p.Asn1300Ser Multiple submitters Cardiovascular phenotype ⚠
• p.Asn1350Ser Multiple submitters Cardiovascular phenotype
• p.Asn1565Asp Multiple submitters ⚠
• p.Asn479Ser Multiple submitters Cardiovascular phenotype ⚠
• p.Asn52Thr Multiple submitters ⚠
• p.Asn797Lys Multiple submitters cardiomyopathy, familial hypertrophic 27 ⚠
• p.Asn962Ser Multiple submitters cardiomyopathy, familial hypertrophic 27
• p.Asp1248His Multiple submitters ⚠
• p.Asp1312Asn Multiple submitters Cardiovascular phenotype
• p.Asp1325Val Multiple submitters Cardiovascular phenotype
• p.Asp1358Glu Multiple submitters Cardiovascular phenotype ⚠
• p.Asp1466Asn Multiple submitters Cardiovascular phenotype
• p.Asp1466del Multiple submitters Cardiovascular phenotype
• p.Asp1577Tyr Multiple submitters Cardiovascular phenotype
• p.Asp1582Asn Multiple submitters Cardiovascular phenotype ⚠
• p.Asp570Val Multiple submitters Cardiovascular phenotype ⚠
• p.Asp589Asn Multiple submitters cardiomyopathy, familial hypertrophic 27 ⚠
• p.Asp595Val Multiple submitters Cardiovascular phenotype ⚠
• p.Asp619Val Multiple submitters Cardiovascular phenotype ⚠
• p.Asp636Asn Multiple submitters Cardiovascular phenotype ⚠
• p.Asp642Gly Multiple submitters Cardiovascular phenotype ⚠
• p.Asp689Tyr Multiple submitters Cardiovascular phenotype ⚠
• p.Asp833Tyr Multiple submitters Cardiovascular phenotype ⚠
• p.Asp91Tyr Multiple submitters Cardiovascular phenotype
• p.Asp93Asn Multiple submitters Cardiovascular phenotype ⚠
• p.Asp941His Multiple submitters Cardiovascular phenotype ⚠
• p.Asp953Val Multiple submitters Cardiovascular phenotype
• p.Cys1035Tyr Multiple submitters cardiomyopathy, familial hypertrophic 27 ⚠
• p.Cys1341Arg Multiple submitters Cardiovascular phenotype
• p.Cys1346Tyr Multiple submitters cardiomyopathy, familial hypertrophic 27 ⚠
• p.Cys1418Arg Multiple submitters Cardiovascular phenotype ⚠
• p.Cys1418Tyr Multiple submitters Cardiovascular phenotype ⚠
• p.Cys142Phe Multiple submitters Cardiovascular phenotype
• p.Cys1472Ser Multiple submitters Cardiovascular phenotype
• p.Cys1472Tyr Multiple submitters Cardiovascular phenotype
• p.Cys764Tyr Multiple submitters Cardiovascular phenotype ⚠
• p.Cys855Tyr Multiple submitters Cardiovascular phenotype ⚠
• p.Cys936Tyr Multiple submitters Cardiovascular phenotype ⚠
• p.Gln1126Leu Multiple submitters Cardiovascular phenotype ⚠
• p.Gln1217Glu Multiple submitters Cardiovascular phenotype ⚠
• p.Gln1275Arg Multiple submitters Cardiovascular phenotype
• p.Gln1313His Multiple submitters Cardiovascular phenotype ⚠
• p.Gln1557Arg Multiple submitters Cardiovascular phenotype
• p.Gln155Lys Multiple submitters Cardiovascular phenotype ⚠
• p.Gln1634Glu Multiple submitters Cardiovascular phenotype ⚠
• p.Gln1679Arg Multiple submitters ⚠
• p.Gln1679Ter Multiple submitters cardiomyopathy, familial hypertrophic 27
• p.Gln1687Pro Multiple submitters Cardiovascular phenotype ⚠
• p.Gln1702Ter Multiple submitters Cardiovascular phenotype
• p.Gln259His Multiple submitters Cardiovascular phenotype ⚠
• p.Gln365Lys Multiple submitters Cardiovascular phenotype ⚠
• p.Gln435Lys Multiple submitters Cardiovascular phenotype ⚠
• p.Gln465Lys Multiple submitters Cardiovascular phenotype ⚠
• p.Gln523Arg Multiple submitters Cardiovascular phenotype ⚠
• p.Gln543Lys Multiple submitters Cardiovascular phenotype ⚠
• p.Gln788Arg Multiple submitters Cardiovascular phenotype ⚠
• p.Gln812Arg Multiple submitters Cardiovascular phenotype ⚠
• p.Gln812Lys Multiple submitters Cardiovascular phenotype ⚠
• p.Gln822Arg Multiple submitters Cardiovascular phenotype ⚠
• p.Gln837Leu Multiple submitters Cardiovascular phenotype ⚠
• p.Glu1092Lys Multiple submitters Cardiovascular phenotype ⚠
• p.Glu1094Gly Multiple submitters Cardiovascular phenotype ⚠
• p.Glu1136Lys Multiple submitters Cardiovascular phenotype ⚠
• p.Glu1140Lys Multiple submitters Cardiovascular phenotype ⚠
• p.Glu1140Val Multiple submitters Cardiovascular phenotype ⚠
• p.Glu1141Asp Multiple submitters Cardiovascular phenotype ⚠
• p.Glu1158Lys Multiple submitters Cardiovascular phenotype
• p.Glu1179Lys Multiple submitters Cardiovascular phenotype ⚠
• p.Glu1211Gly Multiple submitters Cardiovascular phenotype ⚠
• p.Glu1225Ala Multiple submitters Cardiovascular phenotype ⚠
• p.Glu1232del Multiple submitters Cardiovascular phenotype
• p.Glu1318Lys Multiple submitters Cardiovascular phenotype ⚠
• p.Glu1376Lys Multiple submitters Cardiovascular phenotype ⚠
• p.Glu1497Lys Multiple submitters Cardiovascular phenotype ⚠
• p.Glu1500Gln Multiple submitters Cardiovascular phenotype
• p.Glu1697Lys Multiple submitters Cardiovascular phenotype ⚠
• p.Glu195Lys Multiple submitters Cardiovascular phenotype
• p.Glu197Gln Multiple submitters Cardiovascular phenotype ⚠
• p.Glu209Val Multiple submitters Cardiovascular phenotype
• p.Glu241Ala Multiple submitters Cardiovascular phenotype ⚠
• p.Glu252Val Multiple submitters Cardiovascular phenotype ⚠
• p.Glu322Val Multiple submitters Cardiovascular phenotype ⚠
• p.Glu331Lys Multiple submitters Cardiovascular phenotype ⚠
• p.Glu333Lys Multiple submitters Cardiovascular phenotype ⚠
• p.Glu351Gln Multiple submitters Cardiovascular phenotype ⚠
• p.Glu351Lys Multiple submitters ⚠
• p.Glu457Lys Multiple submitters Cardiovascular phenotype ⚠
• p.Glu46Gly Multiple submitters Cardiovascular phenotype
• p.Glu46Val Multiple submitters Cardiovascular phenotype ⚠
• p.Glu586Lys Multiple submitters Cardiovascular phenotype ⚠
• p.Glu647Val Multiple submitters ⚠
• p.Glu678Gly Multiple submitters Cardiovascular phenotype ⚠
• p.Glu74Ala Multiple submitters Cardiovascular phenotype
• p.Glu74Lys Multiple submitters Cardiovascular phenotype
• p.Glu816Asp Multiple submitters Cardiovascular phenotype ⚠
• p.Glu90Gln Multiple submitters Cardiovascular phenotype
• p.Glu933Val Multiple submitters Cardiovascular phenotype ⚠
• p.Glu943Asp Multiple submitters Cardiovascular phenotype ⚠
• p.Gly102Arg Multiple submitters Cardiovascular phenotype ⚠
• p.Gly1065Ser Multiple submitters Cardiovascular phenotype ⚠
• p.Gly1087Val Multiple submitters Cardiovascular phenotype ⚠
• p.Gly1091Asp Multiple submitters
• p.Gly1091Val Multiple submitters Cardiovascular phenotype
• p.Gly1093Arg Multiple submitters ⚠
• p.Gly1113Val Multiple submitters Cardiovascular phenotype ⚠
• p.Gly1116Glu Multiple submitters Cardiovascular phenotype ⚠
• p.Gly1125Glu Multiple submitters Cardiovascular phenotype ⚠
• p.Gly1127Glu Multiple submitters Cardiovascular phenotype ⚠
• p.Gly1162Ala Multiple submitters cardiomyopathy, familial hypertrophic 27
• p.Gly1178Arg Multiple submitters Cardiovascular phenotype ⚠
• p.Gly1195Glu Multiple submitters Cardiovascular phenotype ⚠
• p.Gly1239Asp Multiple submitters Cardiovascular phenotype ⚠
• p.Gly1246Asp Multiple submitters Cardiovascular phenotype ⚠
• p.Gly1290Ser Multiple submitters Cardiovascular phenotype
• p.Gly12Ala Multiple submitters Cardiovascular phenotype ⚠
• p.Gly1317Asp Multiple submitters cardiomyopathy, familial hypertrophic 27
• p.Gly1324Arg Multiple submitters Cardiovascular phenotype
• p.Gly1327Val Multiple submitters Cardiovascular phenotype ⚠
• p.Gly1342Ser Multiple submitters Cardiovascular phenotype
• p.Gly1353Arg Multiple submitters cardiomyopathy, familial hypertrophic 27 ⚠
• p.Gly1353Ser Multiple submitters Cardiovascular phenotype
• p.Gly1414Asp Multiple submitters Cardiovascular phenotype ⚠
• p.Gly1431Arg Multiple submitters cardiomyopathy, familial hypertrophic 27
• p.Gly1462Ser Multiple submitters Cardiovascular phenotype ⚠
• p.Gly14Cys Multiple submitters Cardiovascular phenotype ⚠
• p.Gly1524Cys Multiple submitters Cardiovascular phenotype
• p.Gly1594Asp Multiple submitters Cardiovascular phenotype
• p.Gly1627Val Multiple submitters Cardiovascular phenotype ⚠
• p.Gly1703Asp Multiple submitters Cardiovascular phenotype ⚠
• p.Gly20Arg Multiple submitters Cardiovascular phenotype ⚠
• p.Gly20Glu Multiple submitters Cardiovascular phenotype ⚠
• p.Gly245Glu Multiple submitters Cardiovascular phenotype ⚠
• p.Gly264Val Multiple submitters Cardiovascular phenotype ⚠
• p.Gly278Arg Multiple submitters Cardiovascular phenotype ⚠
• p.Gly430Ala Multiple submitters Cardiovascular phenotype ⚠
• p.Gly430Trp Multiple submitters Cardiovascular phenotype ⚠
• p.Gly448Arg Multiple submitters ⚠
• p.Gly458Glu Multiple submitters Cardiovascular phenotype ⚠
• p.Gly509Arg Multiple submitters Cardiovascular phenotype ⚠
• p.Gly509Trp Multiple submitters Cardiovascular phenotype ⚠
• p.Gly624Glu Multiple submitters ⚠
• p.Gly709_Thr710insMetGlnGlyGluLysGly Multiple submitters Cardiovascular phenotype
• p.Gly733Cys Multiple submitters Cardiovascular phenotype ⚠
• p.Gly733Ser Multiple submitters ⚠
• p.Gly762Arg Multiple submitters Cardiovascular phenotype ⚠
• p.Gly762Val Multiple submitters Cardiovascular phenotype ⚠
• p.Gly815Glu Multiple submitters Cardiovascular phenotype ⚠
• p.Gly846Arg Multiple submitters Cardiovascular phenotype ⚠
• p.Gly859Ser Multiple submitters Cardiovascular phenotype ⚠
• p.Gly872Ala Multiple submitters Cardiovascular phenotype ⚠
• p.Gly948Asp Multiple submitters Cardiovascular phenotype ⚠
• p.Gly948Cys Multiple submitters Cardiovascular phenotype ⚠
• p.Gly948Ser Multiple submitters Cardiovascular phenotype ⚠
• p.Gly955Asp Multiple submitters Cardiovascular phenotype ⚠
• p.Gly977Arg Multiple submitters Cardiovascular phenotype ⚠
• p.Gly979Glu Multiple submitters Cardiovascular phenotype ⚠
• p.His135Arg Multiple submitters Cardiovascular phenotype
• p.His1632Gln Multiple submitters Cardiovascular phenotype ⚠
• p.His178Tyr Multiple submitters Cardiovascular phenotype
• p.His202Arg Multiple submitters Cardiovascular phenotype ⚠
• p.His202Pro Multiple submitters Cardiovascular phenotype ⚠
• p.His290Pro Multiple submitters Cardiovascular phenotype ⚠
• p.His533Arg Multiple submitters Cardiovascular phenotype ⚠
• p.His533Leu Multiple submitters Cardiovascular phenotype ⚠
• p.His786Gln Multiple submitters Cardiovascular phenotype ⚠
• p.His913Tyr Multiple submitters Cardiovascular phenotype ⚠
• p.Ile1014Thr Multiple submitters Cardiovascular phenotype ⚠
• p.Ile1133Thr Multiple submitters Cardiovascular phenotype ⚠