MYOM1 — 2112 ClinVar variants

All ClinVar germline MYOM1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 977 flagged for review →

44 Conflicting · 176 Benign · 38 Benign/Likely benign · 649 Likely benign · 1205 Uncertain significance

Full MYOM1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 977

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors agree, ClinVar conflicts 33

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

MYOM1 p.Ala1013Val Conflicting Single submitter
Cardiovascular phenotype
MYOM1 p.Ala198Thr Conflicting Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Ala229Thr Conflicting Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Ala37Val Conflicting Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Arg1103Gln Conflicting Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Arg1183Gln Conflicting Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Arg31Gln Conflicting Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Arg331Gln Conflicting Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Arg402Trp Conflicting Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Asn1004Asp Conflicting Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Asn1191Ser Conflicting Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Asp1180Gly Conflicting Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Asp536Asn Conflicting Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Glu81Ala Conflicting Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Gly1598Arg Conflicting Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Gly1635Ser Conflicting Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Gly543Arg Conflicting Single submitter
hypertrophic cardiomyopathy
MYOM1 p.His1064Tyr Conflicting Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Leu605Val Conflicting Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Lys1393Glu Conflicting Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Lys206Arg Conflicting Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Lys675Glu Conflicting Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Pro1165Ser Conflicting Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Pro910Leu Conflicting Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Ser1654Leu Conflicting Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Thr154Met Conflicting Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Thr466Met Conflicting Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Tyr46His Conflicting Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Val1063Ile Conflicting Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Val1334Ile Conflicting Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Val1661Ile Conflicting Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Val1663Met Conflicting Single submitter
non-immune hydrops fetalis
MYOM1 p.Val861Met Conflicting Single submitter
hypertrophic cardiomyopathy

Predictors lean, ClinVar uncertain 721

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 721

MYOM1 p.Ala1021Val Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Ala1024Thr Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Ala1037Thr Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Ala1082Gly Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Ala1093Val Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Ala1094Pro Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Ala1121Pro Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Ala1121Val Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Ala1135Val Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Ala1266Thr Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Ala1447Val Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Ala1498Ser Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Ala1498Thr Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Ala1639Thr Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Ala1674Thr Uncertain significance Multiple submitters
MYOM1 p.Ala167Thr Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Ala226Asp Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Ala229Asp Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Ala383Thr Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Ala383Val Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Ala385Ser Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Ala400Pro Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Ala534Pro Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Ala53Val Uncertain significance Multiple submitters
Cardiovascular phenotype
MYOM1 p.Ala649Ser Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Ala856Thr Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Ala87Pro Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Ala915Gly Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Ala963Thr Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Arg1067Gln Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Arg1088Gln Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Arg1116Pro Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Arg1138His Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Arg1231His Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Arg1349Gln Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Arg1396Lys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Arg1434Gln Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Arg1571Cys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Arg1573Pro Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Arg212Thr Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Arg23His Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Arg246Gln Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Arg251Cys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Arg284His Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Arg307Pro Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Arg31Gly Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Arg351Gln Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Arg351Trp Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Arg380Cys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Arg402Gln Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Arg464Gln Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Arg485Gln Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Arg500Gln Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Arg568Cys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Arg578His Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Arg616Cys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Arg62Cys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Arg651Trp Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Arg664Cys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Arg664His Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Arg685Gln Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Arg810Trp Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Arg84Gln Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Arg860His Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Arg860Ser Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Arg947His Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Asn1000Thr Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Asn1091Ser Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Asn1119His Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Asn1327His Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Asn1524Asp Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Asn170Tyr Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Asn356Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
MYOM1 p.Asn473Ser Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Asn522Ser Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Asn560Ser Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Asn789Lys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Asp100Gly Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Asp1180Ala Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Asp1211Ala Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Asp1211Asn Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Asp1312Gly Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Asp1394Gly Uncertain significance Multiple submitters
MYOM1-related non-immune fetal hydrops
MYOM1 p.Asp1445Asn Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Asp1525Asn Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Asp408Asn Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Asp408Gly Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Asp849Asn Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Asp930Asn Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Cys676Arg Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Cys844Phe Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Gln1563Glu Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Gln183Arg Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Gln30Leu Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Gln457Arg Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Gln624Arg Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Gln805Lys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Glu1168Lys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Glu1179Gly Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Glu1187Lys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Glu1473Lys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Glu1486Lys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Glu1553Lys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Glu156Asp Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Glu1610Lys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Glu1668Lys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Glu233Lys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Glu270Lys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Glu629Lys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Glu725Gln Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Glu863Gln Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Glu906Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
MYOM1 p.Glu993Ala Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Gly1066Arg Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Gly1474Asp Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Gly1527Val Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Gly1587Arg Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Gly1645Arg Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Gly42Val Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Gly537Arg Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Gly635Asp Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Gly668Asp Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Gly721Ser Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Gly837Arg Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Gly859Glu Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.His10Tyr Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.His1388Leu Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.His1404Arg Uncertain significance Multiple submitters
MYOM1 p.His1494Arg Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.His272Tyr Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Ile1389Asn Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Ile1398Leu Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Ile166Val Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Ile430Val Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Ile441Thr Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Ile482Val Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Ile746Leu Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Leu105Phe Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Leu1320Arg Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Leu1375Pro Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Leu1451Val Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Leu1461Phe Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Leu337Val Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Leu656Pro Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Leu847Pro Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Lys1030Arg Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Lys1142Glu Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Lys117Glu Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Lys1230Arg Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Lys1403Gln Uncertain significance Multiple submitters
hypertrophic cardiomyopathy

Predictors split 223

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 223

MYOM1 p.Ala775Glu Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Arg1067Trp Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Arg1116Gln Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Arg427Cys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Arg713His Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Arg973Cys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Arg973His Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Asn19Lys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Asn522Lys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Asp1053Ala Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Asp1204Tyr Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Asp1336Val Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Asp501Gly Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Asp554His Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Cys1028Tyr Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Cys1456Arg Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Gln1476His Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Gln189Leu Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Gln213His Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Glu1302Lys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Glu259Gly Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Glu305Val Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Glu440Gly Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Glu520Gly Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Glu600Val Benign Multiple submitters
Cardiovascular phenotype
MYOM1 p.Gly1335Glu Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Ile1294Thr Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Ile1383Thr Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Leu390Phe Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Leu514Ser Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Leu613Phe Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Leu690Pro Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Lys117Asn Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Lys373Glu Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Met1305Thr Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Met355Ile Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Phe1558Leu Likely benign Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Phe61Leu Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Phe869Leu Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Ser110Phe Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Ser1641Leu Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Ser48Cys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Ser579Phe Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Ser694Pro Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Ser80Cys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Ser94Cys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Thr1464Pro Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Thr185Met Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Thr197Met Benign/Likely benign Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Thr215Met Benign Multiple submitters
Cardiovascular phenotype
MYOM1 p.Thr727Ala Benign Multiple submitters
Cardiovascular phenotype
MYOM1 p.Thr727Met Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Trp1597Leu Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Trp1606Leu Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Trp303Gly Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Tyr489Cys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Tyr969Cys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Val1025Gly Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Val1252Ala Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Val1574Leu Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Val1574Met Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Val22Leu Benign Multiple submitters
Cardiovascular phenotype
MYOM1 p.Val755Ala Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYOM1 p.Ala1082Val Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Ala1273Gly Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Ala1472Gly Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Ala204Glu Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Ala348Ser Uncertain significance Single submitter
MYOM1 p.Ala726Gly Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Ala986Thr Uncertain significance Single submitter
MYOM1 p.Arg1051Ser Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Arg1103Pro Uncertain significance Single submitter
MYOM1 p.Arg1440Ser Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Arg1560Thr Uncertain significance Single submitter
MYOM1 p.Arg1627Ser Uncertain significance Single submitter
MYOM1 p.Arg23Pro Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Arg284Cys Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Arg284Gly Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Arg31Trp Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Arg331Leu Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Arg351Gly Uncertain significance Single submitter
MYOM1 p.Arg371Gly Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Arg380Pro Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Arg578Leu Conflicting Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Arg63Trp Uncertain significance Single submitter
MYOM1 p.Arg696His Conflicting Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Arg810Gln Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Arg84Pro Conflicting Single submitter
Cardiovascular phenotype
MYOM1 p.Asn1000Lys Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Asn1004Lys Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Asn1097Lys Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Asn1191Ile Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Asn560His Uncertain significance Single submitter
MYOM1 p.Asp1053Glu Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Asp1053Gly Uncertain significance Single submitter
MYOM1 p.Asp1161His Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Asp1199Val Uncertain significance Single submitter
MYOM1 p.Asp1204Asn Uncertain significance Single submitter
MYOM1 p.Asp1535Gly Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Asp153His Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Asp21Tyr Uncertain significance Single submitter
MYOM1 p.Asp21Val Uncertain significance Single submitter
MYOM1 p.Asp271Val Uncertain significance Single submitter
MYOM1 p.Asp346Asn Uncertain significance Single submitter
MYOM1 p.Asp408Tyr Uncertain significance Single submitter
MYOM1 p.Asp408Val Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Asp524Gly Uncertain significance Single submitter
MYOM1 p.Asp524Val Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Asp643His Uncertain significance Single submitter
MYOM1 p.Asp701Glu Uncertain significance Single submitter
MYOM1 p.Asp948Glu Uncertain significance Single submitter
MYOM1 p.Cys1160Tyr Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Cys1411Arg Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Cys714Ser Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Cys714Tyr Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Cys942Arg Uncertain significance Single submitter
MYOM1 p.Cys942Gly Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Cys942Tyr Uncertain significance Single submitter
MYOM1 p.Gln1356Arg Uncertain significance Single submitter
MYOM1 p.Gln1356Leu Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Gln201Pro Uncertain significance Single submitter
MYOM1 p.Gln207Arg Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Gln624His Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Glu1228Gly Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Glu278Asp Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Glu292Gly Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Glu378Gly Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Glu420Gly Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Glu475Ala Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Glu520Asp Likely benign Single submitter
MYOM1 p.Glu550Asp Uncertain significance Single submitter
MYOM1 p.Glu57Lys Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Glu944Gly Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Glu974Lys Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Gly1131Asp Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Gly1287Asp Uncertain significance Single submitter
MYOM1 p.Gly1508Arg Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Gly1511Arg Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Gly324Arg Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Gly341Val Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Gly374Arg Uncertain significance Single submitter
MYOM1 p.Gly374Glu Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Gly393Asp Uncertain significance Single submitter
MYOM1 p.Gly447Arg Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Gly665Asp Uncertain significance Single submitter
MYOM1 p.Gly793Val Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYOM1 p.His1359Gln Uncertain significance Single submitter
MYOM1 p.His1540Pro Uncertain significance Single submitter
MYOM1 p.His471Arg Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYOM1 p.Ile1095Thr Uncertain significance Single submitter
hypertrophic cardiomyopathy

All MYOM1 variants

Conflicting classifications of pathogenicity 44

c.2384+4A>T Single submitter Cardiovascular phenotype
p.Ala1013Val Single submitter Cardiovascular phenotype ⚠
p.Ala198Thr Single submitter hypertrophic cardiomyopathy ⚠
p.Ala229Thr Single submitter hypertrophic cardiomyopathy ⚠
p.Ala37Val Single submitter hypertrophic cardiomyopathy ⚠
p.Arg1103Gln Single submitter hypertrophic cardiomyopathy ⚠
p.Arg1138Cys Single submitter hypertrophic cardiomyopathy
p.Arg1183Gln Single submitter hypertrophic cardiomyopathy ⚠
p.Arg31Gln Single submitter hypertrophic cardiomyopathy ⚠
p.Arg331Gln Single submitter hypertrophic cardiomyopathy ⚠
p.Arg402Trp Single submitter hypertrophic cardiomyopathy ⚠
p.Arg578Leu Single submitter hypertrophic cardiomyopathy ⚠
p.Arg696His Single submitter hypertrophic cardiomyopathy ⚠
p.Arg84Pro Single submitter Cardiovascular phenotype ⚠
p.Asn1004Asp Single submitter hypertrophic cardiomyopathy ⚠
p.Asn1191Ser Single submitter hypertrophic cardiomyopathy ⚠
p.Asp1180Gly Single submitter hypertrophic cardiomyopathy ⚠
p.Asp536Asn Single submitter hypertrophic cardiomyopathy ⚠
p.Glu81Ala Single submitter hypertrophic cardiomyopathy ⚠
p.Gly1598Arg Single submitter hypertrophic cardiomyopathy ⚠
p.Gly1635Ser Single submitter hypertrophic cardiomyopathy ⚠
p.Gly543Arg Single submitter hypertrophic cardiomyopathy ⚠
p.His1064Tyr Single submitter hypertrophic cardiomyopathy ⚠
p.Ile328del Single submitter hypertrophic cardiomyopathy
p.Leu605Val Single submitter hypertrophic cardiomyopathy ⚠
p.Lys1393Glu Single submitter hypertrophic cardiomyopathy ⚠
p.Lys206Arg Single submitter hypertrophic cardiomyopathy ⚠
p.Lys675Glu Single submitter hypertrophic cardiomyopathy ⚠
p.Pro1165Ser Single submitter hypertrophic cardiomyopathy ⚠
p.Pro910Leu Single submitter hypertrophic cardiomyopathy ⚠
p.Ser1654Leu Single submitter hypertrophic cardiomyopathy ⚠
p.Ser1662= Single submitter hypertrophic cardiomyopathy
p.Thr154Met Single submitter hypertrophic cardiomyopathy ⚠
p.Thr209Met Single submitter hypertrophic cardiomyopathy ⚠
p.Thr466Met Single submitter hypertrophic cardiomyopathy ⚠
p.Tyr1222Cys Single submitter hypertrophic cardiomyopathy
p.Tyr332Cys Single submitter hypertrophic cardiomyopathy ⚠
p.Tyr46His Single submitter hypertrophic cardiomyopathy ⚠
p.Val1063Ile Single submitter hypertrophic cardiomyopathy ⚠
p.Val1334Ile Single submitter hypertrophic cardiomyopathy ⚠
p.Val1661Ile Single submitter hypertrophic cardiomyopathy ⚠
p.Val1663Met Single submitter non-immune hydrops fetalis ⚠
p.Val861Met Single submitter hypertrophic cardiomyopathy ⚠
p.Val899= Single submitter hypertrophic cardiomyopathy

Benign 176

c.1022+23G>A Multiple submitters
c.1111+54C>A Multiple submitters
c.1112-11T>C Multiple submitters hypertrophic cardiomyopathy
c.1112-20G>A Multiple submitters hypertrophic cardiomyopathy
c.1112-58G>T Multiple submitters
c.1174+120G>A Multiple submitters
c.1174+63C>T Multiple submitters
c.1339+74G>A Multiple submitters
c.1502-12C>T Multiple submitters hypertrophic cardiomyopathy
c.1843+10T>G Multiple submitters hypertrophic cardiomyopathy
c.1900+3A>C Multiple submitters Cardiovascular phenotype
c.2210-185G>A Multiple submitters
c.2210-274A>G Multiple submitters
c.2210-4T>G Multiple submitters Cardiovascular phenotype
c.2384+38T>C Multiple submitters
c.2384+93A>T Multiple submitters
c.2507-18G>A Multiple submitters hypertrophic cardiomyopathy
c.2507-22TGT[2] Multiple submitters hypertrophic cardiomyopathy
c.2794+99A>G Multiple submitters
c.2795-78G>T Multiple submitters
c.290+14C>G Multiple submitters hypertrophic cardiomyopathy
c.2991+67G>A Multiple submitters
c.2992-67C>T Multiple submitters
c.3119-169C>T Multiple submitters
c.3304-158G>T Multiple submitters
c.3304-211C>T Multiple submitters
c.3418+176A>G Multiple submitters
c.3418+200C>A Multiple submitters
c.3418+200C>T Multiple submitters
c.3418+247T>G Multiple submitters
c.3418+44G>T Multiple submitters
c.3418+65C>G Multiple submitters
c.3576-5C>T Multiple submitters Cardiovascular phenotype
c.3864+37T>C Multiple submitters
c.4010-17T>C Multiple submitters hypertrophic cardiomyopathy
c.4069+13C>A Multiple submitters hypertrophic cardiomyopathy
c.4069+4A>C Multiple submitters hypertrophic cardiomyopathy
c.431+136A>G Multiple submitters
c.432-84A>G Multiple submitters
c.432-85G>T Multiple submitters
c.4339+61A>T Multiple submitters
c.4340-127G>A Multiple submitters
c.4649-113G>C Multiple submitters
c.4649-19T>G Multiple submitters hypertrophic cardiomyopathy
c.4685+11G>T Multiple submitters hypertrophic cardiomyopathy
c.4686-80A>G Multiple submitters
c.4708+140G>C Multiple submitters
c.4765-180C>G Multiple submitters
c.4765-200G>A Multiple submitters
c.4765-46T>C Multiple submitters
c.771+104T>C Multiple submitters
c.771+133A>G Multiple submitters
c.771+31A>G Multiple submitters
c.929+55T>C Multiple submitters
c.-9G>A Multiple submitters
c.*199T>G Multiple submitters
p.Ala1554= Multiple submitters Cardiovascular phenotype
p.Arg1573Gln Multiple submitters Cardiovascular phenotype
p.Asp1408Asn Multiple submitters Cardiovascular phenotype
p.Glu600Val Multiple submitters Cardiovascular phenotype ⚠
p.Gly1680= Multiple submitters hypertrophic cardiomyopathy
p.Gly341Ala Multiple submitters hypertrophic cardiomyopathy
p.Gly97Val Multiple submitters hypertrophic cardiomyopathy
p.Ile960Thr Multiple submitters hypertrophic cardiomyopathy
p.Leu891= Multiple submitters Cardiovascular phenotype
p.Met1453Thr Multiple submitters Cardiovascular phenotype
p.Ser181Pro Multiple submitters hypertrophic cardiomyopathy
p.Thr180Ile Multiple submitters Cardiovascular phenotype
p.Thr215Met Multiple submitters Cardiovascular phenotype ⚠
p.Thr387Ile Multiple submitters hypertrophic cardiomyopathy
p.Thr727= Multiple submitters hypertrophic cardiomyopathy
p.Thr727Ala Multiple submitters Cardiovascular phenotype ⚠
p.Val22= Multiple submitters Cardiovascular phenotype
p.Val22Leu Multiple submitters Cardiovascular phenotype ⚠
c.1022+200A>G Single submitter
c.1023-288dup Single submitter
c.1111+30GT[7] Single submitter
c.1111+33_1111+34insTA Single submitter
c.1174+192G>A Single submitter
c.1174+221C>T Single submitter
c.1175-144C>T Single submitter
c.1175-147G>A Single submitter
c.1339+178T>C Single submitter
c.1339+199T>C Single submitter
c.1339+286A>G Single submitter
c.1340-222C>T Single submitter
c.1340-233G>A Single submitter
c.1501+147T>C Single submitter
c.1501+241dup Single submitter
c.1501+250dup Single submitter
c.1501+273C>T Single submitter
c.1502-326A>G Single submitter
c.1643+270A>T Single submitter
c.1643+297G>A Single submitter
c.1643+297GT[14] Single submitter
c.1843+156C>T Single submitter
c.1843+191TATTT[4] Single submitter
c.1843+191TATTT[7] Single submitter
c.1901-4del Single submitter hypertrophic cardiomyopathy
c.2025+17A>G Single submitter hypertrophic cardiomyopathy
c.2025+248C>T Single submitter
c.2025+318G>A Single submitter
c.2026-186A>G Single submitter
c.2210-142_2210-140dup Single submitter
c.2210-142_2210-141dup Single submitter
c.2384+151G>C Single submitter
c.2384+167A>G Single submitter
c.2384+244del Single submitter
c.2384+248_2384+252del Single submitter
c.2385-100del Single submitter
c.2506+300G>C Single submitter
c.2795-140C>A Single submitter
c.290+18C>T Single submitter hypertrophic cardiomyopathy
c.290+264C>T Single submitter
c.2991+123T>C Single submitter
c.2992-184A>G Single submitter
c.2992-55dup Single submitter
c.3575+178C>T Single submitter
c.3575+215G>C Single submitter
c.3575+311C>T Single submitter
c.3727+106A>G Single submitter
c.3727+169C>A Single submitter
c.3727+193C>G Single submitter
c.3728-12T>G Single submitter hypertrophic cardiomyopathy
c.3728-74del Single submitter
c.3728-89del Single submitter
c.3865-230A>G Single submitter
c.4069+18A>G Single submitter hypertrophic cardiomyopathy
c.4137+269A>G Single submitter
c.4137+44_4137+48del Single submitter
c.4138-234dup Single submitter
c.4252-62del Single submitter
c.4252-72_4252-71dup Single submitter
c.4252-72dup Single submitter
c.432-10_432-8del Single submitter hypertrophic cardiomyopathy
c.432-253A>T Single submitter
c.432-289dup Single submitter
c.4339+274A>G Single submitter
c.4340-228G>T Single submitter
c.4484+188_4484+193del Single submitter
c.4484+189_4484+193del Single submitter
c.4484+190_4484+193del Single submitter
c.4484+191_4484+193del Single submitter
c.4484+192_4484+193del Single submitter
c.4484+206A>C Single submitter
c.4484+212A>G Single submitter
c.4485-100del Single submitter
c.4648+184_4648+185dup Single submitter
c.4648+184dup Single submitter
c.4648+9A>T Single submitter hypertrophic cardiomyopathy
c.4649-10del Single submitter hypertrophic cardiomyopathy
c.4649-242A>G Single submitter
c.4649-6T>C Single submitter hypertrophic cardiomyopathy
c.4685+12G>A Single submitter hypertrophic cardiomyopathy
c.4685+17A>G Single submitter hypertrophic cardiomyopathy
c.4686-30_4686-29insTTT Single submitter
c.4708+195C>T Single submitter
c.4708+19dup Single submitter hypertrophic cardiomyopathy
c.4708+243A>G Single submitter
c.4709-166del Single submitter
c.4709-179dup Single submitter
c.4709-266C>T Single submitter
c.4709-289C>T Single submitter
c.4764+10A>G Single submitter hypertrophic cardiomyopathy
c.771+115del Single submitter
c.771+205G>A Single submitter
c.771+242C>T Single submitter
c.771+263A>G Single submitter
c.771+53_771+54dup Single submitter
c.771+56GT[10] Single submitter
c.771+56GT[12] Single submitter
c.771+56GT[14] Single submitter
c.772-225A>G Single submitter
c.930-245C>T Single submitter
c.930-67_930-66insTA Single submitter
p.Glu1281Lys Single submitter hypertrophic cardiomyopathy

Benign/Likely benign 38

c.1023-14G>A Multiple submitters hypertrophic cardiomyopathy
c.1340-14del Multiple submitters hypertrophic cardiomyopathy
c.1901-14T>C Multiple submitters hypertrophic cardiomyopathy
c.2385-13G>A Multiple submitters hypertrophic cardiomyopathy
c.2991+8C>A Multiple submitters hypertrophic cardiomyopathy
p.Ala1273= Multiple submitters hypertrophic cardiomyopathy
p.Ala1673= Multiple submitters hypertrophic cardiomyopathy
p.Ala64= Multiple submitters hypertrophic cardiomyopathy
p.Arg31= Multiple submitters hypertrophic cardiomyopathy
p.Arg464= Multiple submitters hypertrophic cardiomyopathy
p.Arg485= Multiple submitters hypertrophic cardiomyopathy
p.Asn446= Multiple submitters hypertrophic cardiomyopathy
p.Asp1151Glu Multiple submitters hypertrophic cardiomyopathy
p.Glu247Lys Multiple submitters Cardiovascular phenotype
p.Glu630= Multiple submitters hypertrophic cardiomyopathy
p.Glu704Lys Multiple submitters Cardiovascular phenotype
p.Glu905= Multiple submitters hypertrophic cardiomyopathy
p.Gly333= Multiple submitters hypertrophic cardiomyopathy
p.His382= Multiple submitters hypertrophic cardiomyopathy
p.Ile626= Multiple submitters hypertrophic cardiomyopathy
p.Leu15= Multiple submitters hypertrophic cardiomyopathy
p.Leu1592= Multiple submitters hypertrophic cardiomyopathy
p.Leu875= Multiple submitters hypertrophic cardiomyopathy
p.Pro1069= Multiple submitters hypertrophic cardiomyopathy
p.Pro660Ala Multiple submitters hypertrophic cardiomyopathy
p.Pro909= Multiple submitters hypertrophic cardiomyopathy
p.Pro934= Multiple submitters hypertrophic cardiomyopathy
p.Ser1167= Multiple submitters hypertrophic cardiomyopathy
p.Ser220= Multiple submitters hypertrophic cardiomyopathy
p.Ser228= Multiple submitters hypertrophic cardiomyopathy
p.Ser47Gly Multiple submitters Cardiovascular phenotype
p.Ser823= Multiple submitters hypertrophic cardiomyopathy
p.Thr1213= Multiple submitters Cardiovascular phenotype
p.Thr1315= Multiple submitters hypertrophic cardiomyopathy
p.Thr197Met Multiple submitters hypertrophic cardiomyopathy ⚠
p.Thr688Ser Multiple submitters hypertrophic cardiomyopathy
p.Tyr39= Multiple submitters hypertrophic cardiomyopathy
p.Val308= Multiple submitters hypertrophic cardiomyopathy

Likely benign 649

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

c.1023-32C>T Multiple submitters
c.1174+124T>C Multiple submitters
c.1340-4C>A Multiple submitters hypertrophic cardiomyopathy
c.1643+156T>C Multiple submitters
c.1900+6_1900+8del Multiple submitters hypertrophic cardiomyopathy
c.3683-9C>T Multiple submitters hypertrophic cardiomyopathy
c.4137+16A>T Multiple submitters hypertrophic cardiomyopathy
c.4138-13G>T Multiple submitters hypertrophic cardiomyopathy
c.4648+7A>G Multiple submitters hypertrophic cardiomyopathy
p.Ala1021= Multiple submitters hypertrophic cardiomyopathy
p.Ala1037= Multiple submitters hypertrophic cardiomyopathy
p.Ala1093= Multiple submitters hypertrophic cardiomyopathy
p.Ala1121= Multiple submitters hypertrophic cardiomyopathy
p.Ala1219= Multiple submitters hypertrophic cardiomyopathy
p.Ala1472= Multiple submitters hypertrophic cardiomyopathy
p.Ala1567= Multiple submitters hypertrophic cardiomyopathy
p.Ala163= Multiple submitters hypertrophic cardiomyopathy
p.Ala1670= Multiple submitters hypertrophic cardiomyopathy
p.Ala173= Multiple submitters hypertrophic cardiomyopathy
p.Ala192= Multiple submitters hypertrophic cardiomyopathy
p.Ala216= Multiple submitters hypertrophic cardiomyopathy
p.Ala354= Multiple submitters hypertrophic cardiomyopathy
p.Ala363= Multiple submitters hypertrophic cardiomyopathy
p.Ala400= Multiple submitters hypertrophic cardiomyopathy
p.Ala504= Multiple submitters hypertrophic cardiomyopathy
p.Ala521= Multiple submitters hypertrophic cardiomyopathy
p.Ala60= Multiple submitters hypertrophic cardiomyopathy
p.Ala703= Multiple submitters hypertrophic cardiomyopathy
p.Ala765= Multiple submitters hypertrophic cardiomyopathy
p.Ala856= Multiple submitters hypertrophic cardiomyopathy
p.Ala914= Multiple submitters hypertrophic cardiomyopathy
p.Arg1138= Multiple submitters hypertrophic cardiomyopathy
p.Arg218= Multiple submitters hypertrophic cardiomyopathy
p.Arg241= Multiple submitters hypertrophic cardiomyopathy
p.Arg597= Multiple submitters hypertrophic cardiomyopathy
p.Arg651Gln Multiple submitters hypertrophic cardiomyopathy
p.Arg711= Multiple submitters hypertrophic cardiomyopathy
p.Arg84= Multiple submitters hypertrophic cardiomyopathy
p.Arg860= Multiple submitters hypertrophic cardiomyopathy
p.Arg973= Multiple submitters hypertrophic cardiomyopathy
p.Asn1097= Multiple submitters hypertrophic cardiomyopathy
p.Asn1147= Multiple submitters
p.Asn1297= Multiple submitters hypertrophic cardiomyopathy
p.Asn1491= Multiple submitters hypertrophic cardiomyopathy
p.Asn1519= Multiple submitters hypertrophic cardiomyopathy
p.Asn1609= Multiple submitters hypertrophic cardiomyopathy
p.Asn1634= Multiple submitters hypertrophic cardiomyopathy
p.Asn19= Multiple submitters hypertrophic cardiomyopathy
p.Asp1437= Multiple submitters hypertrophic cardiomyopathy
p.Asp1503= Multiple submitters hypertrophic cardiomyopathy
p.Asp1580= Multiple submitters hypertrophic cardiomyopathy
p.Asp1616= Multiple submitters hypertrophic cardiomyopathy
p.Asp1658= Multiple submitters hypertrophic cardiomyopathy
p.Cys1210= Multiple submitters hypertrophic cardiomyopathy
p.Gln1086= Multiple submitters hypertrophic cardiomyopathy
p.Glu1107= Multiple submitters hypertrophic cardiomyopathy
p.Glu1143= Multiple submitters hypertrophic cardiomyopathy
p.Glu1351= Multiple submitters hypertrophic cardiomyopathy
p.Glu1667= Multiple submitters hypertrophic cardiomyopathy
p.Glu375= Multiple submitters hypertrophic cardiomyopathy
p.Glu440= Multiple submitters hypertrophic cardiomyopathy
p.Glu463= Multiple submitters hypertrophic cardiomyopathy
p.Glu57= Multiple submitters hypertrophic cardiomyopathy
p.Glu689= Multiple submitters hypertrophic cardiomyopathy
p.Glu784Lys Multiple submitters hypertrophic cardiomyopathy
p.Glu850= Multiple submitters hypertrophic cardiomyopathy
p.Gly1018= Multiple submitters hypertrophic cardiomyopathy
p.Gly1496= Multiple submitters hypertrophic cardiomyopathy
p.Gly1508= Multiple submitters hypertrophic cardiomyopathy
p.Gly1626= Multiple submitters hypertrophic cardiomyopathy
p.Gly1635= Multiple submitters hypertrophic cardiomyopathy
p.Gly324= Multiple submitters hypertrophic cardiomyopathy
p.Gly538= Multiple submitters hypertrophic cardiomyopathy
p.Gly635= Multiple submitters hypertrophic cardiomyopathy
p.Gly639= Multiple submitters hypertrophic cardiomyopathy
p.Gly668= Multiple submitters hypertrophic cardiomyopathy
p.Gly793= Multiple submitters hypertrophic cardiomyopathy
p.His1043= Multiple submitters hypertrophic cardiomyopathy
p.Ile1036= Multiple submitters hypertrophic cardiomyopathy
p.Ile1301= Multiple submitters hypertrophic cardiomyopathy
p.Ile1459Lys Multiple submitters hypertrophic cardiomyopathy
p.Ile1468= Multiple submitters hypertrophic cardiomyopathy
p.Ile1665= Multiple submitters hypertrophic cardiomyopathy
p.Ile280= Multiple submitters hypertrophic cardiomyopathy
p.Ile328= Multiple submitters hypertrophic cardiomyopathy
p.Ile405= Multiple submitters hypertrophic cardiomyopathy
p.Ile575= Multiple submitters hypertrophic cardiomyopathy
p.Leu1055= Multiple submitters hypertrophic cardiomyopathy
p.Leu1077= Multiple submitters hypertrophic cardiomyopathy
p.Leu112= Multiple submitters hypertrophic cardiomyopathy
p.Leu1184= Multiple submitters hypertrophic cardiomyopathy
p.Leu124= Multiple submitters hypertrophic cardiomyopathy
p.Leu1250= Multiple submitters hypertrophic cardiomyopathy
p.Leu1621= Multiple submitters hypertrophic cardiomyopathy
p.Leu274= Multiple submitters hypertrophic cardiomyopathy
p.Leu3= Multiple submitters hypertrophic cardiomyopathy
p.Lys1046= Multiple submitters hypertrophic cardiomyopathy
p.Lys1230= Multiple submitters hypertrophic cardiomyopathy
p.Lys1282= Multiple submitters hypertrophic cardiomyopathy
p.Lys129= Multiple submitters hypertrophic cardiomyopathy
p.Lys146= Multiple submitters hypertrophic cardiomyopathy
p.Lys1643= Multiple submitters hypertrophic cardiomyopathy
p.Lys1683fs Multiple submitters hypertrophic cardiomyopathy
p.Lys20= Multiple submitters hypertrophic cardiomyopathy
p.Lys239= Multiple submitters hypertrophic cardiomyopathy
p.Lys34= Multiple submitters hypertrophic cardiomyopathy
p.Lys659= Multiple submitters hypertrophic cardiomyopathy
p.Lys881= Multiple submitters hypertrophic cardiomyopathy
p.Lys959= Multiple submitters hypertrophic cardiomyopathy
p.Lys982= Multiple submitters hypertrophic cardiomyopathy
p.Phe1074= Multiple submitters hypertrophic cardiomyopathy
p.Phe1558Leu Multiple submitters hypertrophic cardiomyopathy ⚠
p.Phe1623= Multiple submitters hypertrophic cardiomyopathy
p.Pro1061= Multiple submitters hypertrophic cardiomyopathy
p.Pro1126= Multiple submitters hypertrophic cardiomyopathy
p.Pro1523= Multiple submitters hypertrophic cardiomyopathy
p.Pro1600= Multiple submitters hypertrophic cardiomyopathy
p.Pro1602= Multiple submitters hypertrophic cardiomyopathy
p.Pro396= Multiple submitters hypertrophic cardiomyopathy
p.Pro601= Multiple submitters hypertrophic cardiomyopathy
p.Pro607= Multiple submitters hypertrophic cardiomyopathy
p.Pro617= Multiple submitters hypertrophic cardiomyopathy
p.Pro640= Multiple submitters hypertrophic cardiomyopathy
p.Pro641= Multiple submitters hypertrophic cardiomyopathy
p.Ser1023= Multiple submitters hypertrophic cardiomyopathy
p.Ser1048= Multiple submitters hypertrophic cardiomyopathy
p.Ser1065= Multiple submitters hypertrophic cardiomyopathy
p.Ser1181= Multiple submitters hypertrophic cardiomyopathy
p.Ser1497= Multiple submitters hypertrophic cardiomyopathy
p.Ser1605= Multiple submitters hypertrophic cardiomyopathy
p.Ser1641= Multiple submitters hypertrophic cardiomyopathy
p.Ser1654= Multiple submitters hypertrophic cardiomyopathy
p.Ser1657= Multiple submitters hypertrophic cardiomyopathy
p.Ser196= Multiple submitters hypertrophic cardiomyopathy
p.Ser353= Multiple submitters hypertrophic cardiomyopathy
p.Ser362= Multiple submitters hypertrophic cardiomyopathy
p.Ser529= Multiple submitters hypertrophic cardiomyopathy
p.Ser58= Multiple submitters hypertrophic cardiomyopathy
p.Ser657= Multiple submitters hypertrophic cardiomyopathy
p.Ser724= Multiple submitters hypertrophic cardiomyopathy
p.Ser758= Multiple submitters hypertrophic cardiomyopathy
p.Ser776= Multiple submitters hypertrophic cardiomyopathy
p.Ser886Gly Multiple submitters hypertrophic cardiomyopathy
p.Thr1193= Multiple submitters hypertrophic cardiomyopathy
p.Thr1482= Multiple submitters hypertrophic cardiomyopathy
p.Thr1507= Multiple submitters hypertrophic cardiomyopathy
p.Thr152= Multiple submitters hypertrophic cardiomyopathy
p.Thr154= Multiple submitters hypertrophic cardiomyopathy
p.Thr1628= Multiple submitters hypertrophic cardiomyopathy
p.Thr1638= Multiple submitters hypertrophic cardiomyopathy
p.Thr1660= Multiple submitters hypertrophic cardiomyopathy
p.Thr185= Multiple submitters hypertrophic cardiomyopathy
p.Thr203= Multiple submitters hypertrophic cardiomyopathy
p.Thr209= Multiple submitters hypertrophic cardiomyopathy
p.Thr215= Multiple submitters hypertrophic cardiomyopathy
p.Thr261= Multiple submitters hypertrophic cardiomyopathy
p.Thr40= Multiple submitters hypertrophic cardiomyopathy
p.Thr44= Multiple submitters hypertrophic cardiomyopathy
p.Thr458= Multiple submitters hypertrophic cardiomyopathy
p.Thr466= Multiple submitters hypertrophic cardiomyopathy
p.Thr468= Multiple submitters hypertrophic cardiomyopathy
p.Thr650= Multiple submitters hypertrophic cardiomyopathy
p.Thr688= Multiple submitters hypertrophic cardiomyopathy
p.Tyr1007= Multiple submitters hypertrophic cardiomyopathy
p.Tyr1111= Multiple submitters hypertrophic cardiomyopathy
p.Tyr1175= Multiple submitters hypertrophic cardiomyopathy
p.Tyr1316= Multiple submitters hypertrophic cardiomyopathy
p.Tyr1644= Multiple submitters hypertrophic cardiomyopathy
p.Tyr1652= Multiple submitters hypertrophic cardiomyopathy
p.Tyr264= Multiple submitters hypertrophic cardiomyopathy
p.Tyr544= Multiple submitters hypertrophic cardiomyopathy
p.Tyr996= Multiple submitters hypertrophic cardiomyopathy
p.Val1063= Multiple submitters hypertrophic cardiomyopathy
p.Val1148= Multiple submitters hypertrophic cardiomyopathy
p.Val1186= Multiple submitters hypertrophic cardiomyopathy
p.Val1212= Multiple submitters hypertrophic cardiomyopathy
p.Val1581= Multiple submitters hypertrophic cardiomyopathy
p.Val1582= Multiple submitters hypertrophic cardiomyopathy
p.Val222= Multiple submitters hypertrophic cardiomyopathy
p.Val368= Multiple submitters hypertrophic cardiomyopathy
p.Val686= Multiple submitters hypertrophic cardiomyopathy
p.Val769= Multiple submitters hypertrophic cardiomyopathy
c.1022+11A>G Single submitter hypertrophic cardiomyopathy
c.1022+16T>C Single submitter hypertrophic cardiomyopathy
c.1022+18T>A Single submitter hypertrophic cardiomyopathy
c.1023-11T>C Single submitter hypertrophic cardiomyopathy
c.1023-14G>T Single submitter hypertrophic cardiomyopathy
c.1023-15C>T Single submitter hypertrophic cardiomyopathy
c.1023-20A>G Single submitter hypertrophic cardiomyopathy
c.1023-280_1023-279dup Single submitter
c.1023-6T>C Single submitter hypertrophic cardiomyopathy
c.1023-8T>C Single submitter hypertrophic cardiomyopathy
c.1112-14G>T Single submitter hypertrophic cardiomyopathy
c.1112-4C>T Single submitter hypertrophic cardiomyopathy
c.1112-6C>T Single submitter hypertrophic cardiomyopathy
c.1174+15A>G Single submitter hypertrophic cardiomyopathy
c.1174+16C>T Single submitter hypertrophic cardiomyopathy
c.1174+17A>G Single submitter hypertrophic cardiomyopathy
c.1175-14A>G Single submitter hypertrophic cardiomyopathy
c.1175-2A>T Single submitter hypertrophic cardiomyopathy
c.1175-4C>A Single submitter hypertrophic cardiomyopathy
c.1175-8G>T Single submitter hypertrophic cardiomyopathy
c.1340-17T>C Single submitter hypertrophic cardiomyopathy
c.1340-18C>T Single submitter hypertrophic cardiomyopathy
c.1502-113G>A Single submitter
c.1643+11A>T Single submitter hypertrophic cardiomyopathy
c.1644-11C>T Single submitter hypertrophic cardiomyopathy
c.1644-14G>A Single submitter hypertrophic cardiomyopathy
c.1644-15C>T Single submitter hypertrophic cardiomyopathy
c.1644-16A>G Single submitter hypertrophic cardiomyopathy
c.1843+10T>C Single submitter hypertrophic cardiomyopathy
c.1843+11T>A Single submitter hypertrophic cardiomyopathy
c.1843+11T>G Single submitter hypertrophic cardiomyopathy
c.1843+12T>G Single submitter hypertrophic cardiomyopathy
c.1844-14T>C Single submitter hypertrophic cardiomyopathy
c.1844-17T>C Single submitter hypertrophic cardiomyopathy
c.1844-18A>T Single submitter hypertrophic cardiomyopathy
c.1901-11T>C Single submitter hypertrophic cardiomyopathy
c.1901-12G>A Single submitter hypertrophic cardiomyopathy
c.1901-13T>C Single submitter hypertrophic cardiomyopathy
c.1901-4T>G Single submitter hypertrophic cardiomyopathy
c.1901-7T>C Single submitter hypertrophic cardiomyopathy
c.1901-9_1901-7del Single submitter hypertrophic cardiomyopathy
c.2025+10T>C Single submitter hypertrophic cardiomyopathy
c.2025+10T>G Single submitter hypertrophic cardiomyopathy
c.2025+20A>G Single submitter hypertrophic cardiomyopathy
c.2026-12T>C Single submitter hypertrophic cardiomyopathy
c.2026-16C>T Single submitter hypertrophic cardiomyopathy
c.2026-5T>C Single submitter hypertrophic cardiomyopathy
c.2026-7G>T Single submitter hypertrophic cardiomyopathy
c.2209+19C>A Single submitter hypertrophic cardiomyopathy
c.2209+9C>A Single submitter hypertrophic cardiomyopathy
c.2210-11C>T Single submitter hypertrophic cardiomyopathy
c.2384+10T>C Single submitter hypertrophic cardiomyopathy
c.2384+14G>T Single submitter hypertrophic cardiomyopathy
c.2385-13G>C Single submitter hypertrophic cardiomyopathy
c.2385-14T>G Single submitter hypertrophic cardiomyopathy
c.2385-19A>G Single submitter hypertrophic cardiomyopathy
c.2385-20A>G Single submitter hypertrophic cardiomyopathy
c.2385-20A>T Single submitter hypertrophic cardiomyopathy
c.2385-9T>C Single submitter hypertrophic cardiomyopathy
c.2506+15C>G Single submitter
c.2506+16A>G Single submitter hypertrophic cardiomyopathy
c.2506+20C>T Single submitter hypertrophic cardiomyopathy
c.2506+7T>C Single submitter hypertrophic cardiomyopathy
c.2507-13C>T Single submitter hypertrophic cardiomyopathy
c.2507-15G>A Single submitter hypertrophic cardiomyopathy
c.2507-20T>C Single submitter hypertrophic cardiomyopathy
c.2507-4_2507-3del Single submitter hypertrophic cardiomyopathy
c.2794+15A>G Single submitter hypertrophic cardiomyopathy
c.2794+7G>A Single submitter hypertrophic cardiomyopathy
c.290+10A>T Single submitter hypertrophic cardiomyopathy
c.290+13C>T Single submitter hypertrophic cardiomyopathy
c.290+17C>T Single submitter hypertrophic cardiomyopathy
c.290+20C>T Single submitter hypertrophic cardiomyopathy
c.290+7C>G Single submitter hypertrophic cardiomyopathy
c.290+8G>A Single submitter hypertrophic cardiomyopathy
c.290+9G>C Single submitter hypertrophic cardiomyopathy
c.291-15G>A Single submitter hypertrophic cardiomyopathy
c.2991+12A>C Single submitter hypertrophic cardiomyopathy
c.2991+12A>T Single submitter hypertrophic cardiomyopathy
c.2991+18T>C Single submitter hypertrophic cardiomyopathy
c.2991+8C>T Single submitter hypertrophic cardiomyopathy
c.2991+9G>A Single submitter hypertrophic cardiomyopathy
c.2992-12T>C Single submitter hypertrophic cardiomyopathy
c.2992-45del Single submitter
c.3119-11C>T Single submitter hypertrophic cardiomyopathy
c.3119-12T>A Single submitter hypertrophic cardiomyopathy
c.3119-13C>T Single submitter hypertrophic cardiomyopathy
c.3119-14TC[5] Single submitter hypertrophic cardiomyopathy
c.3119-14TC[7] Single submitter hypertrophic cardiomyopathy
c.3303+11G>T Single submitter hypertrophic cardiomyopathy
c.3303+8G>A Single submitter hypertrophic cardiomyopathy
c.3303+8G>T Single submitter hypertrophic cardiomyopathy
c.3304-15_3304-4del Single submitter hypertrophic cardiomyopathy
c.3418+12C>T Single submitter hypertrophic cardiomyopathy
c.3418+9T>C Single submitter hypertrophic cardiomyopathy
c.3419-263C>G Single submitter
c.3419-4G>C Single submitter hypertrophic cardiomyopathy
c.3575+10A>C Single submitter hypertrophic cardiomyopathy
c.3575+16A>G Single submitter hypertrophic cardiomyopathy
c.3575+20C>G Single submitter hypertrophic cardiomyopathy
c.3576-11T>C Single submitter hypertrophic cardiomyopathy
c.3576-16A>G Single submitter hypertrophic cardiomyopathy
c.3576-20A>G Single submitter hypertrophic cardiomyopathy
c.3576-47C>T Single submitter
c.3576-4G>A Single submitter hypertrophic cardiomyopathy
c.3682+14C>G Single submitter hypertrophic cardiomyopathy
c.3682+19C>T Single submitter hypertrophic cardiomyopathy
c.3727+10C>T Single submitter hypertrophic cardiomyopathy
c.3727+10del Single submitter hypertrophic cardiomyopathy
c.3727+17C>T Single submitter hypertrophic cardiomyopathy
c.3727+8T>G Single submitter hypertrophic cardiomyopathy
c.3728-10_3728-9del Single submitter hypertrophic cardiomyopathy
c.3728-8T>C Single submitter hypertrophic cardiomyopathy
c.3864+12A>G Single submitter hypertrophic cardiomyopathy
c.3864+18T>C Single submitter hypertrophic cardiomyopathy
c.3865-7A>C Single submitter hypertrophic cardiomyopathy
c.4009+12G>A Single submitter hypertrophic cardiomyopathy
c.4009+16A>C Single submitter hypertrophic cardiomyopathy

Uncertain significance 1205

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

c.1111+4G>T Multiple submitters hypertrophic cardiomyopathy
p.Ala1021Val Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ala1024Thr Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ala1037Thr Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ala1082Gly Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ala1093Val Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ala1094Pro Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ala1121Pro Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ala1121Val Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ala1135Val Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ala1266Thr Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ala1447Val Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ala1498Ser Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ala1498Thr Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ala1639Thr Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ala1674Thr Multiple submitters ⚠
p.Ala167Thr Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ala226Asp Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ala229Asp Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ala383Thr Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ala383Val Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ala385Ser Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ala400Pro Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ala534Pro Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ala53Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala649Ser Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ala775Glu Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ala856Thr Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ala87Pro Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ala915Gly Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ala963Thr Multiple submitters hypertrophic cardiomyopathy ⚠
p.Arg1067Gln Multiple submitters hypertrophic cardiomyopathy ⚠
p.Arg1067Trp Multiple submitters hypertrophic cardiomyopathy ⚠
p.Arg1088Gln Multiple submitters hypertrophic cardiomyopathy ⚠
p.Arg1114Cys Multiple submitters hypertrophic cardiomyopathy
p.Arg1114His Multiple submitters hypertrophic cardiomyopathy
p.Arg1116Gln Multiple submitters hypertrophic cardiomyopathy ⚠
p.Arg1116Pro Multiple submitters hypertrophic cardiomyopathy ⚠
p.Arg1138His Multiple submitters hypertrophic cardiomyopathy ⚠
p.Arg1231Cys Multiple submitters hypertrophic cardiomyopathy
p.Arg1231His Multiple submitters hypertrophic cardiomyopathy ⚠
p.Arg1261Gln Multiple submitters hypertrophic cardiomyopathy
p.Arg1349Gln Multiple submitters hypertrophic cardiomyopathy ⚠
p.Arg1349Trp Multiple submitters hypertrophic cardiomyopathy
p.Arg1396Lys Multiple submitters hypertrophic cardiomyopathy ⚠
p.Arg1434Gln Multiple submitters hypertrophic cardiomyopathy ⚠
p.Arg1571Cys Multiple submitters hypertrophic cardiomyopathy ⚠
p.Arg1571His Multiple submitters hypertrophic cardiomyopathy
p.Arg1573Pro Multiple submitters hypertrophic cardiomyopathy ⚠
p.Arg1573Trp Multiple submitters hypertrophic cardiomyopathy
p.Arg212Thr Multiple submitters hypertrophic cardiomyopathy ⚠
p.Arg23His Multiple submitters hypertrophic cardiomyopathy ⚠
p.Arg246Gln Multiple submitters hypertrophic cardiomyopathy ⚠
p.Arg251Cys Multiple submitters hypertrophic cardiomyopathy ⚠
p.Arg284His Multiple submitters hypertrophic cardiomyopathy ⚠
p.Arg307Cys Multiple submitters hypertrophic cardiomyopathy
p.Arg307Pro Multiple submitters hypertrophic cardiomyopathy ⚠
p.Arg31Gly Multiple submitters hypertrophic cardiomyopathy ⚠
p.Arg351Gln Multiple submitters hypertrophic cardiomyopathy ⚠
p.Arg351Trp Multiple submitters hypertrophic cardiomyopathy ⚠
p.Arg380Cys Multiple submitters hypertrophic cardiomyopathy ⚠
p.Arg402Gln Multiple submitters hypertrophic cardiomyopathy ⚠
p.Arg427Cys Multiple submitters hypertrophic cardiomyopathy ⚠
p.Arg464Gln Multiple submitters hypertrophic cardiomyopathy ⚠
p.Arg485Gln Multiple submitters hypertrophic cardiomyopathy ⚠
p.Arg485Trp Multiple submitters hypertrophic cardiomyopathy
p.Arg500Gln Multiple submitters hypertrophic cardiomyopathy ⚠
p.Arg568Cys Multiple submitters hypertrophic cardiomyopathy ⚠
p.Arg578Cys Multiple submitters hypertrophic cardiomyopathy
p.Arg578His Multiple submitters hypertrophic cardiomyopathy ⚠
p.Arg585Gln Multiple submitters hypertrophic cardiomyopathy
p.Arg616Cys Multiple submitters hypertrophic cardiomyopathy ⚠
p.Arg62Cys Multiple submitters hypertrophic cardiomyopathy ⚠
p.Arg651Trp Multiple submitters hypertrophic cardiomyopathy ⚠
p.Arg664Cys Multiple submitters hypertrophic cardiomyopathy ⚠
p.Arg664His Multiple submitters hypertrophic cardiomyopathy ⚠
p.Arg685Gln Multiple submitters hypertrophic cardiomyopathy ⚠
p.Arg696Cys Multiple submitters hypertrophic cardiomyopathy
p.Arg713Cys Multiple submitters hypertrophic cardiomyopathy
p.Arg713His Multiple submitters hypertrophic cardiomyopathy ⚠
p.Arg795Gly Multiple submitters hypertrophic cardiomyopathy
p.Arg810Trp Multiple submitters hypertrophic cardiomyopathy ⚠
p.Arg84Gln Multiple submitters hypertrophic cardiomyopathy ⚠
p.Arg860His Multiple submitters hypertrophic cardiomyopathy ⚠
p.Arg860Ser Multiple submitters hypertrophic cardiomyopathy ⚠
p.Arg947Cys Multiple submitters hypertrophic cardiomyopathy
p.Arg947His Multiple submitters hypertrophic cardiomyopathy ⚠
p.Arg973Cys Multiple submitters hypertrophic cardiomyopathy ⚠
p.Arg973His Multiple submitters hypertrophic cardiomyopathy ⚠
p.Asn1000Thr Multiple submitters hypertrophic cardiomyopathy ⚠
p.Asn1091Ser Multiple submitters hypertrophic cardiomyopathy ⚠
p.Asn1119His Multiple submitters hypertrophic cardiomyopathy ⚠
p.Asn1327His Multiple submitters hypertrophic cardiomyopathy ⚠
p.Asn1382Asp Multiple submitters hypertrophic cardiomyopathy
p.Asn1524Asp Multiple submitters hypertrophic cardiomyopathy ⚠
p.Asn170Tyr Multiple submitters hypertrophic cardiomyopathy ⚠
p.Asn19Lys Multiple submitters hypertrophic cardiomyopathy ⚠
p.Asn356Ser Multiple submitters Cardiovascular phenotype ⚠
p.Asn473Ser Multiple submitters hypertrophic cardiomyopathy ⚠
p.Asn522Lys Multiple submitters hypertrophic cardiomyopathy ⚠
p.Asn522Ser Multiple submitters hypertrophic cardiomyopathy ⚠
p.Asn560Ser Multiple submitters hypertrophic cardiomyopathy ⚠
p.Asn789Lys Multiple submitters hypertrophic cardiomyopathy ⚠
p.Asp100Gly Multiple submitters hypertrophic cardiomyopathy ⚠
p.Asp1053Ala Multiple submitters hypertrophic cardiomyopathy ⚠
p.Asp1180Ala Multiple submitters hypertrophic cardiomyopathy ⚠
p.Asp1204Tyr Multiple submitters hypertrophic cardiomyopathy ⚠
p.Asp1211Ala Multiple submitters hypertrophic cardiomyopathy ⚠
p.Asp1211Asn Multiple submitters hypertrophic cardiomyopathy ⚠
p.Asp1312Gly Multiple submitters hypertrophic cardiomyopathy ⚠
p.Asp1336Val Multiple submitters hypertrophic cardiomyopathy ⚠
p.Asp1394Gly Multiple submitters MYOM1-related non-immune fetal hydrops ⚠
p.Asp1445Asn Multiple submitters hypertrophic cardiomyopathy ⚠
p.Asp1525Asn Multiple submitters hypertrophic cardiomyopathy ⚠
p.Asp271Gly Multiple submitters hypertrophic cardiomyopathy
p.Asp408Asn Multiple submitters hypertrophic cardiomyopathy ⚠
p.Asp408Gly Multiple submitters hypertrophic cardiomyopathy ⚠
p.Asp501Gly Multiple submitters hypertrophic cardiomyopathy ⚠
p.Asp554His Multiple submitters hypertrophic cardiomyopathy ⚠
p.Asp849Asn Multiple submitters hypertrophic cardiomyopathy ⚠
p.Asp930Asn Multiple submitters hypertrophic cardiomyopathy ⚠
p.Cys1028Tyr Multiple submitters hypertrophic cardiomyopathy ⚠
p.Cys1372Gly Multiple submitters hypertrophic cardiomyopathy
p.Cys1456Arg Multiple submitters hypertrophic cardiomyopathy ⚠
p.Cys676Arg Multiple submitters hypertrophic cardiomyopathy ⚠
p.Cys844Phe Multiple submitters hypertrophic cardiomyopathy ⚠
p.Gln1476His Multiple submitters hypertrophic cardiomyopathy ⚠
p.Gln1563Glu Multiple submitters hypertrophic cardiomyopathy ⚠
p.Gln183Arg Multiple submitters hypertrophic cardiomyopathy ⚠
p.Gln189Leu Multiple submitters hypertrophic cardiomyopathy ⚠
p.Gln213His Multiple submitters hypertrophic cardiomyopathy ⚠
p.Gln30Leu Multiple submitters hypertrophic cardiomyopathy ⚠
p.Gln349Leu Multiple submitters hypertrophic cardiomyopathy
p.Gln457Arg Multiple submitters hypertrophic cardiomyopathy ⚠
p.Gln624Arg Multiple submitters hypertrophic cardiomyopathy ⚠
p.Gln805Lys Multiple submitters hypertrophic cardiomyopathy ⚠
p.Glu1033Lys Multiple submitters hypertrophic cardiomyopathy
p.Glu1143Ala Multiple submitters hypertrophic cardiomyopathy
p.Glu1168Lys Multiple submitters hypertrophic cardiomyopathy ⚠
p.Glu1179Gly Multiple submitters hypertrophic cardiomyopathy ⚠
p.Glu1187Lys Multiple submitters hypertrophic cardiomyopathy ⚠
p.Glu1302Lys Multiple submitters hypertrophic cardiomyopathy ⚠
p.Glu1473Lys Multiple submitters hypertrophic cardiomyopathy ⚠
p.Glu1486Lys Multiple submitters hypertrophic cardiomyopathy ⚠
p.Glu1520Lys Multiple submitters hypertrophic cardiomyopathy
p.Glu1553Lys Multiple submitters hypertrophic cardiomyopathy ⚠
p.Glu1568Lys Multiple submitters hypertrophic cardiomyopathy
p.Glu156Asp Multiple submitters hypertrophic cardiomyopathy ⚠
p.Glu1603Lys Multiple submitters hypertrophic cardiomyopathy
p.Glu1610Lys Multiple submitters hypertrophic cardiomyopathy ⚠
p.Glu161Lys Multiple submitters hypertrophic cardiomyopathy
p.Glu1668Lys Multiple submitters hypertrophic cardiomyopathy ⚠
p.Glu233Lys Multiple submitters hypertrophic cardiomyopathy ⚠
p.Glu259Gly Multiple submitters hypertrophic cardiomyopathy ⚠
p.Glu270Lys Multiple submitters hypertrophic cardiomyopathy ⚠
p.Glu305Val Multiple submitters hypertrophic cardiomyopathy ⚠
p.Glu418Gln Multiple submitters hypertrophic cardiomyopathy
p.Glu440Gly Multiple submitters hypertrophic cardiomyopathy ⚠
p.Glu520Gly Multiple submitters hypertrophic cardiomyopathy ⚠
p.Glu600Lys Multiple submitters hypertrophic cardiomyopathy
p.Glu629Lys Multiple submitters hypertrophic cardiomyopathy ⚠
p.Glu725Gln Multiple submitters hypertrophic cardiomyopathy ⚠
p.Glu863Gln Multiple submitters hypertrophic cardiomyopathy ⚠
p.Glu906Ala Multiple submitters Cardiovascular phenotype ⚠
p.Glu993Ala Multiple submitters hypertrophic cardiomyopathy ⚠
p.Gly1066Arg Multiple submitters hypertrophic cardiomyopathy ⚠
p.Gly1140Glu Multiple submitters hypertrophic cardiomyopathy
p.Gly1258Ser Multiple submitters hypertrophic cardiomyopathy
p.Gly1335Glu Multiple submitters hypertrophic cardiomyopathy ⚠
p.Gly1474Asp Multiple submitters hypertrophic cardiomyopathy ⚠
p.Gly1527Val Multiple submitters hypertrophic cardiomyopathy ⚠
p.Gly1587Arg Multiple submitters hypertrophic cardiomyopathy ⚠
p.Gly1645Arg Multiple submitters hypertrophic cardiomyopathy ⚠
p.Gly42Val Multiple submitters hypertrophic cardiomyopathy ⚠
p.Gly508Glu Multiple submitters hypertrophic cardiomyopathy
p.Gly537Arg Multiple submitters hypertrophic cardiomyopathy ⚠
p.Gly538Arg Multiple submitters hypertrophic cardiomyopathy
p.Gly635Asp Multiple submitters hypertrophic cardiomyopathy ⚠
p.Gly639Val Multiple submitters hypertrophic cardiomyopathy
p.Gly668Asp Multiple submitters hypertrophic cardiomyopathy ⚠
p.Gly721Ser Multiple submitters hypertrophic cardiomyopathy ⚠
p.Gly837Arg Multiple submitters hypertrophic cardiomyopathy ⚠
p.Gly859Glu Multiple submitters hypertrophic cardiomyopathy ⚠
p.His10Tyr Multiple submitters hypertrophic cardiomyopathy ⚠
p.His1388Leu Multiple submitters hypertrophic cardiomyopathy ⚠
p.His1404Arg Multiple submitters ⚠
p.His1494Arg Multiple submitters hypertrophic cardiomyopathy ⚠
p.His272Tyr Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ile1294Thr Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ile1383Thr Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ile1389Asn Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ile1398Leu Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ile1415Val Multiple submitters hypertrophic cardiomyopathy
p.Ile166Val Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ile430Val Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ile441Thr Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ile482Val Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ile746Leu Multiple submitters hypertrophic cardiomyopathy ⚠
p.Leu105Phe Multiple submitters hypertrophic cardiomyopathy ⚠
p.Leu1320Arg Multiple submitters hypertrophic cardiomyopathy ⚠
p.Leu1375Pro Multiple submitters hypertrophic cardiomyopathy ⚠
p.Leu1451Val Multiple submitters hypertrophic cardiomyopathy ⚠
p.Leu1461Phe Multiple submitters hypertrophic cardiomyopathy ⚠
p.Leu337Val Multiple submitters hypertrophic cardiomyopathy ⚠
p.Leu390Phe Multiple submitters hypertrophic cardiomyopathy ⚠
p.Leu514Ser Multiple submitters hypertrophic cardiomyopathy ⚠
p.Leu613Phe Multiple submitters hypertrophic cardiomyopathy ⚠
p.Leu656Pro Multiple submitters hypertrophic cardiomyopathy ⚠
p.Leu690Pro Multiple submitters hypertrophic cardiomyopathy ⚠
p.Leu847Pro Multiple submitters hypertrophic cardiomyopathy ⚠
p.Lys1030Arg Multiple submitters hypertrophic cardiomyopathy ⚠
p.Lys1142Glu Multiple submitters hypertrophic cardiomyopathy ⚠
p.Lys117Asn Multiple submitters hypertrophic cardiomyopathy ⚠
p.Lys117Glu Multiple submitters hypertrophic cardiomyopathy ⚠
p.Lys1230Arg Multiple submitters hypertrophic cardiomyopathy ⚠
p.Lys1403Gln Multiple submitters hypertrophic cardiomyopathy ⚠
p.Lys1407Glu Multiple submitters hypertrophic cardiomyopathy ⚠
p.Lys373Glu Multiple submitters hypertrophic cardiomyopathy ⚠
p.Lys435Arg Multiple submitters hypertrophic cardiomyopathy ⚠
p.Lys523Arg Multiple submitters hypertrophic cardiomyopathy ⚠
p.Met1005Lys Multiple submitters hypertrophic cardiomyopathy ⚠
p.Met1305Thr Multiple submitters hypertrophic cardiomyopathy ⚠
p.Met137Leu Multiple submitters hypertrophic cardiomyopathy ⚠
p.Met1453Leu Multiple submitters hypertrophic cardiomyopathy ⚠
p.Met355Ile Multiple submitters hypertrophic cardiomyopathy ⚠
p.Met422Val Multiple submitters hypertrophic cardiomyopathy ⚠
p.Met950Val Multiple submitters cardiomyopathy ⚠
p.Phe279Leu Multiple submitters hypertrophic cardiomyopathy ⚠
p.Phe61Leu Multiple submitters hypertrophic cardiomyopathy ⚠
p.Phe710Cys Multiple submitters hypertrophic cardiomyopathy ⚠
p.Phe710Leu Multiple submitters hypertrophic cardiomyopathy ⚠
p.Phe869Leu Multiple submitters hypertrophic cardiomyopathy ⚠
p.Pro1042Leu Multiple submitters hypertrophic cardiomyopathy ⚠
p.Pro1061Leu Multiple submitters hypertrophic cardiomyopathy
p.Pro1069Leu Multiple submitters hypertrophic cardiomyopathy ⚠
p.Pro116Ala Multiple submitters hypertrophic cardiomyopathy ⚠
p.Pro1288Leu Multiple submitters hypertrophic cardiomyopathy ⚠
p.Pro1600Leu Multiple submitters hypertrophic cardiomyopathy ⚠
p.Pro439Ser Multiple submitters hypertrophic cardiomyopathy ⚠
p.Pro617Ala Multiple submitters hypertrophic cardiomyopathy ⚠
p.Pro641Leu Multiple submitters hypertrophic cardiomyopathy ⚠
p.Pro845Leu Multiple submitters hypertrophic cardiomyopathy ⚠
p.Pro851Leu Multiple submitters hypertrophic cardiomyopathy ⚠
p.Pro885Ala Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ser1023Pro Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ser110Phe Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ser134Gly Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ser1637Cys Multiple submitters hypertrophic cardiomyopathy
p.Ser1641Leu Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ser353Leu Multiple submitters hypertrophic cardiomyopathy
p.Ser362Leu Multiple submitters hypertrophic cardiomyopathy
p.Ser453Leu Multiple submitters MYOM1-related non-immune fetal hydrops ⚠
p.Ser48Cys Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ser557Leu Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ser579Phe Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ser596Phe Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ser652Asn Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ser68Tyr Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ser694Pro Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ser707Pro Multiple submitters hypertrophic cardiomyopathy
p.Ser758Leu Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ser80Cys Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ser877Thr Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ser88Leu Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ser897Asn Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ser94Cys Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ser992Ile Multiple submitters hypertrophic cardiomyopathy ⚠
p.Thr1137Ser Multiple submitters hypertrophic cardiomyopathy ⚠
p.Thr1193Met Multiple submitters hypertrophic cardiomyopathy
p.Thr1215Ala Multiple submitters hypertrophic cardiomyopathy ⚠
p.Thr1315Arg Multiple submitters hypertrophic cardiomyopathy
p.Thr1315Met Multiple submitters hypertrophic cardiomyopathy ⚠
p.Thr1464Pro Multiple submitters hypertrophic cardiomyopathy ⚠
p.Thr1507Ala Multiple submitters hypertrophic cardiomyopathy ⚠
p.Thr1628Ile Multiple submitters hypertrophic cardiomyopathy ⚠
p.Thr1656Ile Multiple submitters hypertrophic cardiomyopathy ⚠
p.Thr185Met Multiple submitters hypertrophic cardiomyopathy ⚠
p.Thr203Ala Multiple submitters hypertrophic cardiomyopathy ⚠
p.Thr25Asn Multiple submitters hypertrophic cardiomyopathy ⚠
p.Thr309Met Multiple submitters hypertrophic cardiomyopathy ⚠
p.Thr387Ala Multiple submitters hypertrophic cardiomyopathy ⚠
p.Thr395Asn Multiple submitters hypertrophic cardiomyopathy ⚠
p.Thr40Ala Multiple submitters hypertrophic cardiomyopathy ⚠
p.Thr431Ile Multiple submitters hypertrophic cardiomyopathy ⚠
p.Thr466Pro Multiple submitters hypertrophic cardiomyopathy ⚠
p.Thr481Arg Multiple submitters hypertrophic cardiomyopathy ⚠
p.Thr572Ala Multiple submitters hypertrophic cardiomyopathy ⚠
p.Thr628Ala Multiple submitters hypertrophic cardiomyopathy ⚠
p.Thr688Met Multiple submitters hypertrophic cardiomyopathy ⚠
p.Thr727Met Multiple submitters hypertrophic cardiomyopathy ⚠
p.Thr797Ser Multiple submitters hypertrophic cardiomyopathy ⚠
p.Trp1597Leu Multiple submitters hypertrophic cardiomyopathy ⚠
p.Trp1606Leu Multiple submitters hypertrophic cardiomyopathy ⚠
p.Trp303Gly Multiple submitters hypertrophic cardiomyopathy ⚠
p.Trp556fs Multiple submitters hypertrophic cardiomyopathy
p.Tyr1099His Multiple submitters hypertrophic cardiomyopathy ⚠
p.Tyr1175Asp Multiple submitters hypertrophic cardiomyopathy
p.Tyr1529Cys Multiple submitters hypertrophic cardiomyopathy ⚠
p.Tyr326Cys Multiple submitters hypertrophic cardiomyopathy ⚠
p.Tyr480His Multiple submitters hypertrophic cardiomyopathy ⚠