MYPN — 1893 ClinVar variants

All ClinVar germline MYPN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 881 flagged for review →

47 Pathogenic · 4 Pathogenic/Likely pathogenic · 24 Likely pathogenic · 102 Conflicting · 125 Benign · 41 Benign/Likely benign · 606 Likely benign · 944 Uncertain significance

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

⚑ Evidence disagreements 881

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 70

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

MYPN p.Ala1022Gly Conflicting Single submitter
MYPN-related myopathy
MYPN p.Ala1117Val Conflicting Single submitter
Cardiovascular phenotype
MYPN p.Ala135Gly Conflicting Single submitter
dilated cardiomyopathy 1KK
MYPN p.Ala217Val Conflicting Single submitter
MYPN-related myopathy
MYPN p.Ala242Val Conflicting Single submitter
dilated cardiomyopathy 1KK
MYPN p.Ala839Thr Conflicting Single submitter
Cardiovascular phenotype
MYPN p.Ala861Val Conflicting Single submitter
Cardiovascular phenotype
MYPN p.Ala91Thr Conflicting Single submitter
Cardiovascular phenotype
MYPN p.Arg1057Gln Conflicting Single submitter
MYPN-related myopathy
MYPN p.Arg1139His Conflicting Single submitter
dilated cardiomyopathy 1KK
MYPN p.Arg1278Gln Conflicting Single submitter
MYPN-related myopathy
MYPN p.Arg1278Trp Conflicting Single submitter
dilated cardiomyopathy 1KK
MYPN p.Arg1312Gln Conflicting Single submitter
Cardiovascular phenotype
MYPN p.Arg1312Trp Conflicting Single submitter
Cardiovascular phenotype
MYPN p.Arg137Thr Conflicting Single submitter
dilated cardiomyopathy 1KK
MYPN p.Arg27Pro Conflicting Single submitter
Cardiovascular phenotype
MYPN p.Arg377Gln Conflicting Single submitter
Cardiovascular phenotype
MYPN p.Arg489Gln Conflicting Single submitter
dilated cardiomyopathy 1KK
MYPN p.Arg597His Conflicting Single submitter
Cardiovascular phenotype
MYPN p.Arg722Gln Conflicting Single submitter
MYPN-related myopathy
MYPN p.Arg810His Conflicting Single submitter
Cardiovascular phenotype
MYPN p.Arg955Gln Conflicting Single submitter
MYPN-related myopathy
MYPN p.Asn84Ser Conflicting Single submitter
dilated cardiomyopathy 1KK
MYPN p.Asn881Ile Conflicting Single submitter
dilated cardiomyopathy 1KK
MYPN p.Asp120Glu Conflicting Single submitter
Cardiovascular phenotype
MYPN p.Asp221Val Conflicting Single submitter
Cardiovascular phenotype
MYPN p.Asp626Asn Conflicting Single submitter
dilated cardiomyopathy
MYPN p.Gln193Arg Conflicting Single submitter
Cardiovascular phenotype
MYPN p.Gln771Arg Conflicting Single submitter
dilated cardiomyopathy 1KK
MYPN p.Glu114Asp Conflicting Single submitter
Cardiovascular phenotype
MYPN p.Glu204Gly Conflicting Single submitter
Cardiovascular phenotype
MYPN p.Gly253Arg Conflicting Single submitter
Cardiovascular phenotype
MYPN p.His564Asp Conflicting Single submitter
Cardiovascular phenotype
MYPN p.His934Gln Conflicting Single submitter
dilated cardiomyopathy 1KK
MYPN p.His991Arg Conflicting Single submitter
dilated cardiomyopathy 1KK
MYPN p.Ile1041Asn Conflicting Single submitter
Cardiovascular phenotype
MYPN p.Ile754Leu Conflicting Single submitter
Cardiovascular phenotype
MYPN p.Lys153Arg Conflicting Single submitter
dilated cardiomyopathy 1KK
MYPN p.Met1035Val Conflicting Single submitter
Cardiovascular phenotype
MYPN p.Met1305Val Conflicting Single submitter
Cardiovascular phenotype
MYPN p.Phe797Leu Conflicting Single submitter
Cardiovascular phenotype
MYPN p.Pro109Ser Conflicting Single submitter
Cardiovascular phenotype
MYPN p.Pro1101Thr Conflicting Single submitter
Cardiovascular phenotype
MYPN p.Pro1102Leu Conflicting Single submitter
Cardiovascular phenotype
MYPN p.Pro1112Leu Conflicting Single submitter
hypertrophic cardiomyopathy
MYPN p.Pro1273Leu Conflicting Single submitter
MYPN-related myopathy
MYPN p.Pro132Leu Conflicting Single submitter
dilated cardiomyopathy 1KK
MYPN p.Pro268Ser Conflicting Single submitter
dilated cardiomyopathy 1KK
MYPN p.Pro47Leu Conflicting Single submitter
arrhythmogenic right ventricular cardiomyopathy
MYPN p.Pro563Leu Conflicting Single submitter
Cardiovascular phenotype
MYPN p.Pro651Gln Conflicting Single submitter
dilated cardiomyopathy 1KK
MYPN p.Pro728Leu Conflicting Single submitter
dilated cardiomyopathy 1KK
MYPN p.Pro784Arg Conflicting Single submitter
Cardiovascular phenotype
MYPN p.Pro795Arg Conflicting Single submitter
Cardiovascular phenotype
MYPN p.Ser1296Thr Conflicting Single submitter
Cardiovascular phenotype
MYPN p.Ser131Ile Conflicting Single submitter
Cardiovascular phenotype
MYPN p.Ser312Phe Conflicting Single submitter
hypertrophic cardiomyopathy
MYPN p.Ser366Pro Conflicting Single submitter
Cardiovascular phenotype
MYPN p.Ser38Thr Conflicting Single submitter
MYPN-related myopathy
MYPN p.Ser749Asn Conflicting Single submitter
dilated cardiomyopathy 1KK
MYPN p.Ser854Thr Conflicting Single submitter
Cardiovascular phenotype
MYPN p.Ser857Thr Conflicting Single submitter
Cardiovascular phenotype
MYPN p.Thr620Ala Conflicting Single submitter
dilated cardiomyopathy 1KK
MYPN p.Thr705Ile Conflicting Single submitter
Cardiovascular phenotype
MYPN p.Thr717Met Conflicting Single submitter
Cardiovascular phenotype
MYPN p.Thr790Ala Conflicting Single submitter
Cardiovascular phenotype
MYPN p.Thr94Ser Conflicting Single submitter
long QT syndrome
MYPN p.Val1195Met Conflicting Single submitter
MYPN-related myopathy
MYPN p.Val1255Met Conflicting Single submitter
Cardiovascular phenotype
MYPN p.Val318Ile Conflicting Single submitter
Cardiovascular phenotype

Predictors lean, ClinVar uncertain 688

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 688

MYPN p.Ala1148Ser Uncertain significance Multiple submitters
dilated cardiomyopathy 1KK
MYPN p.Ala1148Thr Uncertain significance Multiple submitters
dilated cardiomyopathy 1KK
MYPN p.Ala1265Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Ala1265Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Ala238Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Ala238Val Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Ala246Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Ala329Val Uncertain significance Multiple submitters
dilated cardiomyopathy 1KK
MYPN p.Ala35Ser Uncertain significance Multiple submitters
dilated cardiomyopathy 1KK
MYPN p.Ala411Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Ala492Val Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Ala517Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Ala51Thr Uncertain significance Multiple submitters
dilated cardiomyopathy 1KK
MYPN p.Ala65Val Uncertain significance Multiple submitters
MYPN-related myopathy
MYPN p.Ala699Thr Uncertain significance Multiple submitters
dilated cardiomyopathy 1KK
MYPN p.Ala702Val Uncertain significance Multiple submitters
dilated cardiomyopathy 1KK
MYPN p.Ala712Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Ala712Ser Uncertain significance Multiple submitters
dilated cardiomyopathy 1KK
MYPN p.Ala734Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Ala882Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Ala882Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Ala8Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Arg1042His Uncertain significance Multiple submitters
dilated cardiomyopathy 1KK
MYPN p.Arg1044Gln Uncertain significance Multiple submitters
MYPN-related myopathy
MYPN p.Arg1069Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Arg1069His Uncertain significance Multiple submitters
MYPN-related myopathy
MYPN p.Arg1072Gln Uncertain significance Multiple submitters
dilated cardiomyopathy 1KK
MYPN p.Arg1091Trp Uncertain significance Multiple submitters
dilated cardiomyopathy 1KK
MYPN p.Arg1190Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Arg1190Thr Uncertain significance Multiple submitters
dilated cardiomyopathy 1KK
MYPN p.Arg1194Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Arg1283His Uncertain significance Multiple submitters
dilated cardiomyopathy 1KK
MYPN p.Arg137Ser Uncertain significance Multiple submitters
dilated cardiomyopathy 1KK
MYPN p.Arg205Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Arg206Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Arg270Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Arg276Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Arg276Gly Uncertain significance Multiple submitters
dilated cardiomyopathy 1KK
MYPN p.Arg338His Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Arg34Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Arg409Cys Uncertain significance Multiple submitters
dilated cardiomyopathy 1KK
MYPN p.Arg482Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Arg631Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Arg810Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Arg810Pro Uncertain significance Multiple submitters
dilated cardiomyopathy 1KK
MYPN p.Arg822Gln Uncertain significance Multiple submitters
dilated cardiomyopathy 1KK
MYPN p.Arg822Trp Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Arg877His Uncertain significance Multiple submitters
dilated cardiomyopathy 1KK
MYPN p.Arg877Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Arg885Gln Uncertain significance Multiple submitters
dilated cardiomyopathy 1KK
MYPN p.Arg922His Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Asn121Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Asn40Ile Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Asn519Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Asn552Ser Uncertain significance Multiple submitters
dilated cardiomyopathy 1KK
MYPN p.Asn584Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Asn586Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Asn899His Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Asp103Val Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Asp201Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Asp201Asn Uncertain significance Multiple submitters
dilated cardiomyopathy 1KK
MYPN p.Asp221Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Asp249Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Asp289Tyr Uncertain significance Multiple submitters
MYPN-related myopathy
MYPN p.Asp365Asn Uncertain significance Multiple submitters
dilated cardiomyopathy 1KK
MYPN p.Asp369Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Asp537Tyr Uncertain significance Multiple submitters
dilated cardiomyopathy 1KK
MYPN p.Asp59Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Asp73Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Asp73His Uncertain significance Multiple submitters
MYPN-related myopathy
MYPN p.Asp86Tyr Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Cys141Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Cys992Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Gln1037Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Gln119Arg Uncertain significance Multiple submitters
dilated cardiomyopathy 1KK
MYPN p.Gln1270Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Gln145Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Gln240Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Gln287Lys Uncertain significance Multiple submitters
dilated cardiomyopathy 1KK
MYPN p.Gln299Lys Uncertain significance Multiple submitters
dilated cardiomyopathy 1KK
MYPN p.Gln442Pro Uncertain significance Multiple submitters
MYPN p.Gln529Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Gln559Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Gln572Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Gln572His Uncertain significance Multiple submitters
dilated cardiomyopathy 1KK
MYPN p.Gln665His Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Gln858Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Glu1185Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Glu23Asp Uncertain significance Multiple submitters
dilated cardiomyopathy 1KK
MYPN p.Glu262Gly Uncertain significance Multiple submitters
dilated cardiomyopathy 1KK
MYPN p.Glu36Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Glu566Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Glu610Asp Uncertain significance Multiple submitters
dilated cardiomyopathy 1KK
MYPN p.Glu630Lys Uncertain significance Multiple submitters
MYPN-related myopathy
MYPN p.Glu74Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Glu7Asp Uncertain significance Multiple submitters
dilated cardiomyopathy 1KK
MYPN p.Glu958Gly Uncertain significance Multiple submitters
dilated cardiomyopathy 1KK
MYPN p.Gly1049Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Gly1054Arg Uncertain significance Multiple submitters
MYPN-related myopathy
MYPN p.Gly1127Arg Uncertain significance Multiple submitters
dilated cardiomyopathy 1KK
MYPN p.Gly1127Val Uncertain significance Multiple submitters
MYPN-related myopathy
MYPN p.Gly1182Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Gly1253Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Gly1285Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Gly368Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Gly449Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Gly45Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Gly45Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Gly522Ser Uncertain significance Multiple submitters
dilated cardiomyopathy 1KK
MYPN p.Gly53Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Gly54Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Gly616Val Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Gly888Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Gly959Asp Uncertain significance Multiple submitters
dilated cardiomyopathy 1KK
MYPN p.His1129Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.His1269Asp Uncertain significance Multiple submitters
dilated cardiomyopathy 1KK
MYPN p.His1269Tyr Uncertain significance Multiple submitters
dilated cardiomyopathy 1KK
MYPN p.His168Tyr Uncertain significance Multiple submitters
dilated cardiomyopathy 1KK
MYPN p.His43Arg Uncertain significance Multiple submitters
dilated cardiomyopathy 1KK
MYPN p.His667Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.His953Tyr Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Ile1006Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Ile1006Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Ile1147Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Ile1147Thr Uncertain significance Multiple submitters
dilated cardiomyopathy 1KK
MYPN p.Ile1196Val Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Ile1263Met Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Ile12Val Uncertain significance Multiple submitters
dilated cardiomyopathy 1KK
MYPN p.Ile173Asn Uncertain significance Multiple submitters
MYPN-related disorder
MYPN p.Ile173Met Uncertain significance Multiple submitters
dilated cardiomyopathy 1KK
MYPN p.Ile475Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Ile594Thr Uncertain significance Multiple submitters
dilated cardiomyopathy 1KK
MYPN p.Ile6Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Ile754Val Uncertain significance Multiple submitters
MYPN p.Ile815Val Uncertain significance Multiple submitters
dilated cardiomyopathy 1KK
MYPN p.Ile943Met Uncertain significance Multiple submitters
dilated cardiomyopathy 1KK
MYPN p.Leu100Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Leu1066Pro Uncertain significance Multiple submitters
dilated cardiomyopathy 1KK
MYPN p.Leu1132Phe Uncertain significance Multiple submitters
dilated cardiomyopathy 1KK
MYPN p.Leu1159Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Leu1175Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Leu1320Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Leu228Pro Uncertain significance Multiple submitters
dilated cardiomyopathy 1KK
MYPN p.Leu265Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Leu484Phe Uncertain significance Multiple submitters
MYPN-related myopathy
MYPN p.Leu785His Uncertain significance Multiple submitters
dilated cardiomyopathy 1KK
MYPN p.Leu785Phe Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Lys1145Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Lys575Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Lys657Arg Uncertain significance Multiple submitters
Cardiovascular phenotype

Predictors split 123

The independent predictors disagree with each other — read with care.

MYPN p.Ala1141Thr Benign/Likely benign Multiple submitters
Cardiovascular phenotype
MYPN p.Arg1216Gly Uncertain significance Multiple submitters
dilated cardiomyopathy 1KK
MYPN p.Arg1218Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Arg722Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Arg919Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Asn601Lys Uncertain significance Multiple submitters
dilated cardiomyopathy 1KK
MYPN p.Asn668Ile Uncertain significance Multiple submitters
dilated cardiomyopathy 1KK
MYPN p.Asp1093Asn Uncertain significance Multiple submitters
dilated cardiomyopathy 1KK
MYPN p.Asp1140Asn Uncertain significance Multiple submitters
dilated cardiomyopathy 1KK
MYPN p.Asp1208Gly Uncertain significance Multiple submitters
MYPN-related myopathy
MYPN p.Asp62Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Cys1193Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Cys811Trp Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Glu282Lys Uncertain significance Multiple submitters
MYPN-related myopathy
MYPN p.Glu504Asp Uncertain significance Multiple submitters
MYPN-related myopathy
MYPN p.Glu71Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Glu909Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Gly847Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Ile1294Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Ile12Thr Uncertain significance Multiple submitters
MYPN-related myopathy
MYPN p.Leu16Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Leu672Pro Uncertain significance Multiple submitters
dilated cardiomyopathy 1KK
MYPN p.Lys234Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Met1198Thr Uncertain significance Multiple submitters
dilated cardiomyopathy 1KK
MYPN p.Met1221Ile Uncertain significance Multiple submitters
dilated cardiomyopathy 1KK
MYPN p.Met994Thr Uncertain significance Multiple submitters
dilated cardiomyopathy 1KK
MYPN p.Phe807Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Pro1235Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Pro649Ala Uncertain significance Multiple submitters
dilated cardiomyopathy 1KK
MYPN p.Pro723Leu Uncertain significance Multiple submitters
dilated cardiomyopathy 1KK
MYPN p.Ser1282Arg Benign/Likely benign Multiple submitters
Cardiovascular phenotype
MYPN p.Ser1299Phe Uncertain significance Multiple submitters
dilated cardiomyopathy 1KK
MYPN p.Ser1300Phe Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Ser1308Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Ser363Phe Uncertain significance Multiple submitters
Cardiovascular phenotype
MYPN p.Ser803Arg Benign Multiple submitters
Cardiovascular phenotype
MYPN p.Val1173Ala Uncertain significance Multiple submitters
dilated cardiomyopathy 1KK
MYPN p.Ala1241Asp Uncertain significance Single submitter
dilated cardiomyopathy 1KK
MYPN p.Ala845Asp Uncertain significance Single submitter
Cardiovascular phenotype
MYPN p.Arg1042Cys Conflicting Single submitter
Cardiovascular phenotype
MYPN p.Arg1055Ser Uncertain significance Single submitter
Cardiovascular phenotype
MYPN p.Arg1069Ser Conflicting Single submitter
Cardiovascular phenotype
MYPN p.Arg278Gly Uncertain significance Single submitter
Cardiovascular phenotype
MYPN p.Arg589Trp Uncertain significance Single submitter
Cardiovascular phenotype
MYPN p.Arg911Gly Uncertain significance Single submitter
Cardiovascular phenotype
MYPN p.Arg911Ser Uncertain significance Single submitter
dilated cardiomyopathy 1KK
MYPN p.Arg919Cys Uncertain significance Single submitter
dilated cardiomyopathy 1KK
MYPN p.Arg950Ser Uncertain significance Single submitter
dilated cardiomyopathy 1KK
MYPN p.Arg955Gly Uncertain significance Single submitter
MYPN p.Asn1109Ser Uncertain significance Single submitter
Cardiovascular phenotype
MYPN p.Asn1180Thr Uncertain significance Single submitter
Cardiovascular phenotype
MYPN p.Asp1240Asn Uncertain significance Single submitter
dilated cardiomyopathy 1KK
MYPN p.Asp1240Glu Uncertain significance Single submitter
Cardiovascular phenotype
MYPN p.Asp335Asn Uncertain significance Single submitter
MYPN p.Asp427Glu Uncertain significance Single submitter
Cardiovascular phenotype
MYPN p.Asp427Gly Uncertain significance Single submitter
dilated cardiomyopathy 1KK
MYPN p.Cys1094Tyr Uncertain significance Single submitter
Cardiovascular phenotype
MYPN p.Cys1181Arg Uncertain significance Single submitter
Cardiovascular phenotype
MYPN p.Gln450His Uncertain significance Single submitter
Cardiovascular phenotype
MYPN p.Glu1125Lys Uncertain significance Single submitter
MYPN p.Glu1192Asp Uncertain significance Single submitter
Cardiovascular phenotype
MYPN p.Glu1302Lys Uncertain significance Single submitter
dilated cardiomyopathy 1KK
MYPN p.Glu23Lys Uncertain significance Single submitter
Cardiovascular phenotype
MYPN p.Glu282Gly Conflicting Single submitter
MYPN-related myopathy
MYPN p.Glu909Gly Uncertain significance Single submitter
dilated cardiomyopathy 1KK
MYPN p.Glu917Asp Uncertain significance Single submitter
MYPN p.Gly1032Val Uncertain significance Single submitter
Cardiovascular phenotype
MYPN p.Gly1110Asp Uncertain significance Single submitter
Cardiovascular phenotype
MYPN p.Gly1291Arg Uncertain significance Single submitter
dilated cardiomyopathy 1KK
MYPN p.Gly360Arg Uncertain significance Single submitter
dilated cardiomyopathy 1KK
MYPN p.His168Asp Uncertain significance Single submitter
dilated cardiomyopathy 1KK
MYPN p.Ile431Thr Uncertain significance Single submitter
dilated cardiomyopathy 1KK
MYPN p.Ile840Thr Uncertain significance Single submitter
dilated cardiomyopathy 1KK
MYPN p.Leu1039Trp Uncertain significance Single submitter
dilated cardiomyopathy 1KK
MYPN p.Leu1161Ile Conflicting Single submitter
heart failure
MYPN p.Leu1246Phe Uncertain significance Single submitter
Cardiovascular phenotype
MYPN p.Leu658Pro Uncertain significance Single submitter
Cardiovascular phenotype
MYPN p.Leu81Pro Uncertain significance Single submitter
dilated cardiomyopathy 1KK
MYPN p.Leu848Pro Uncertain significance Single submitter
Cardiovascular phenotype
MYPN p.Leu920Phe Uncertain significance Single submitter
Cardiovascular phenotype
MYPN p.Lys1169Asn Uncertain significance Single submitter
MYPN p.Lys153Asn Uncertain significance Single submitter
dilated cardiomyopathy 1KK
MYPN p.Lys190Asn Conflicting Single submitter
Cardiovascular phenotype
MYPN p.Lys975Asn Uncertain significance Single submitter
dilated cardiomyopathy 1KK
MYPN p.Met1198Arg Uncertain significance Single submitter
Cardiovascular phenotype
MYPN p.Met1305Ile Conflicting Single submitter
dilated cardiomyopathy 1KK
MYPN p.Met192Ile Uncertain significance Single submitter
Cardiovascular phenotype
MYPN p.Met440Ile Uncertain significance Single submitter
Cardiovascular phenotype
MYPN p.Met846Ile Uncertain significance Single submitter
Cardiovascular phenotype
MYPN p.Met913Ile Uncertain significance Single submitter
Cardiovascular phenotype
MYPN p.Phe1203Leu Uncertain significance Single submitter
dilated cardiomyopathy 1KK
MYPN p.Phe1295Cys Uncertain significance Single submitter
Cardiovascular phenotype
MYPN p.Phe44Leu Uncertain significance Single submitter
dilated cardiomyopathy 1KK
MYPN p.Phe454Leu Uncertain significance Single submitter
dilated cardiomyopathy 1KK
MYPN p.Phe506Leu Uncertain significance Single submitter
Cardiovascular phenotype
MYPN p.Phe600Leu Uncertain significance Single submitter
MYPN p.Phe727Cys Uncertain significance Single submitter
Cardiovascular phenotype
MYPN p.Phe799Leu Uncertain significance Single submitter
Cardiovascular phenotype
MYPN p.Pro1184Ser Uncertain significance Single submitter
MYPN p.Ser1031Cys Uncertain significance Single submitter
Cardiovascular phenotype
MYPN p.Ser1162Pro Uncertain significance Single submitter
dilated cardiomyopathy 1KK
MYPN p.Ser1313Arg Uncertain significance Single submitter
dilated cardiomyopathy 1KK
MYPN p.Ser163Pro Uncertain significance Single submitter
Cardiovascular phenotype
MYPN p.Ser167Phe Uncertain significance Single submitter
Cardiovascular phenotype
MYPN p.Ser549Cys Uncertain significance Single submitter
MYPN p.Ser5Arg Uncertain significance Single submitter
dilated cardiomyopathy 1KK
MYPN p.Ser68Arg Uncertain significance Single submitter
dilated cardiomyopathy 1KK
MYPN p.Ser813Phe Uncertain significance Single submitter
Cardiovascular phenotype
MYPN p.Ser832Phe Uncertain significance Single submitter
dilated cardiomyopathy 1KK
MYPN p.Thr1215Ile Uncertain significance Single submitter
dilated cardiomyopathy 1KK
MYPN p.Thr499Ala Uncertain significance Single submitter
Cardiovascular phenotype
MYPN p.Thr499Ile Uncertain significance Single submitter
dilated cardiomyopathy 1KK
MYPN p.Trp1267Arg Uncertain significance Single submitter
Cardiovascular phenotype
MYPN p.Val1036Ile Uncertain significance Single submitter
MYPN p.Val1183Ala Uncertain significance Single submitter
dilated cardiomyopathy 1KK
MYPN p.Val1189Ala Uncertain significance Single submitter
Cardiovascular phenotype
MYPN p.Val280Leu Uncertain significance Single submitter
Cardiovascular phenotype
MYPN p.Val598Ala Uncertain significance Single submitter
Cardiovascular phenotype
MYPN p.Val670Ala Uncertain significance Single submitter
dilated cardiomyopathy 1KK
MYPN p.Glu909Ala Uncertain significance No assertion criteria
dilated cardiomyopathy 1KK
MYPN p.Ile823Thr Uncertain significance No assertion criteria
MYPN p.Phe954Leu Uncertain significance No assertion criteria
dilated cardiomyopathy 1KK
MYPN p.Tyr339Phe Uncertain significance No assertion criteria
dilated cardiomyopathy 1KK

All MYPN variants

Pathogenic 47

p.Arg1072Ter Multiple submitters Cardiovascular phenotype
p.Arg489Ter Multiple submitters Cardiovascular phenotype
c.3158+1G>A Single submitter nemaline myopathy
p.Ala392fs Single submitter dilated cardiomyopathy 1KK
p.Ala699fs Single submitter dilated cardiomyopathy 1KK
p.Arg377Ter Single submitter Cardiovascular phenotype
p.Arg589fs Single submitter dilated cardiomyopathy 1KK
p.Arg897Ter Single submitter dilated cardiomyopathy 1KK
p.Asn1109fs Single submitter dilated cardiomyopathy 1KK
p.Asp369fs Single submitter Cardiovascular phenotype
p.Cys1002Ter Single submitter dilated cardiomyopathy 1KK
p.Gln402Ter Single submitter dilated cardiomyopathy 1KK
p.Gln572fs Single submitter dilated cardiomyopathy 1KK
p.Gln664Ter Single submitter dilated cardiomyopathy 1KK
p.Gln824Ter Single submitter dilated cardiomyopathy 1KK
p.Glu504fs Single submitter Cardiovascular phenotype
p.Glu610fs Single submitter dilated cardiomyopathy 1KK
p.Glu71Ter Single submitter dilated cardiomyopathy 1KK
p.Glu927Ter Single submitter Cardiovascular phenotype
p.His1033fs Single submitter dilated cardiomyopathy 1KK
p.Ile891fs Single submitter dilated cardiomyopathy 1KK
p.Ile968fs Single submitter MYPN-related myopathy
p.Leu1246Ter Single submitter dilated cardiomyopathy 1KK
p.Lys1095Ter Single submitter dilated cardiomyopathy 1KK
p.Lys575fs Single submitter dilated cardiomyopathy 1KK
p.Lys890_Ile891insTer Single submitter dilated cardiomyopathy 1KK
p.Met1082fs Single submitter dilated cardiomyopathy 1KK
p.Pro1135fs Single submitter dilated cardiomyopathy 1KK
p.Pro650fs Single submitter Cardiovascular phenotype
p.Pro816fs Single submitter Cardiovascular phenotype
p.Ser203Ter Single submitter dilated cardiomyopathy 1KK
p.Ser546Ter Single submitter dilated cardiomyopathy 1KK
p.Ser707fs Single submitter Cardiovascular phenotype
p.Ser769fs Single submitter
p.Ser851fs Single submitter dilated cardiomyopathy 1KK
p.Thr1137fs Single submitter dilated cardiomyopathy 1KK
p.Thr639fs Single submitter dilated cardiomyopathy 1KK
p.Trp468Ter Single submitter MYPN-related myopathy
p.Tyr261fs Single submitter dilated cardiomyopathy 1KK
p.Tyr469Ter Single submitter Cardiovascular phenotype
p.Tyr903Ter Single submitter Cardiovascular phenotype
p.Val694_Leu695insTer Single submitter dilated cardiomyopathy 1KK
c.1973+1G>C No assertion criteria MYPN-related myopathy
c.1974-2A>C No assertion criteria MYPN-related myopathy
c.3076-2A>C No assertion criteria MYPN-related myopathy
p.Asn668fs No assertion criteria MYPN-related myopathy
p.Gln529Ter No assertion criteria Cardiomyopathy, familial restrictive, 4

Pathogenic/Likely pathogenic 4

p.Arg1072fs Multiple submitters dilated cardiomyopathy 1KK
p.Arg996Ter Multiple submitters Cardiovascular phenotype
p.Ser1043fs Multiple submitters dilated cardiomyopathy 1KK
p.Val149fs Multiple submitters MYPN-related disorder

Likely pathogenic 24

c.1317+1G>A Multiple submitters dilated cardiomyopathy 1KK
c.1078+1G>A Single submitter dilated cardiomyopathy 1KK
c.1079-2A>G Single submitter dilated cardiomyopathy 1KK
c.1246-2A>G Single submitter dilated cardiomyopathy 1KK
c.1973+1G>A Single submitter dilated cardiomyopathy 1KK
c.1974-1G>A Single submitter dilated cardiomyopathy 1KK
c.2565-2A>G Single submitter dilated cardiomyopathy 1KK
c.2598_2703+9delinsCAACAATC Single submitter dilated cardiomyopathy 1KK
c.2704-1G>A Single submitter dilated cardiomyopathy 1KK
c.3660-1G>A Single submitter dilated cardiomyopathy 1KK
c.3660-2A>C Single submitter dilated cardiomyopathy 1KK
p.Asp1081fs Single submitter
p.Asp926fs Single submitter dilated cardiomyopathy 1KK
p.Gln230Ter Single submitter dilated cardiomyopathy 1KK
p.Gln442Ter Single submitter MYPN-related disorder
p.Gln635Ter Single submitter MYPN-related myopathy
p.Gln662Ter Single submitter
p.Gln716Ter Single submitter MYPN-related disorder
p.Glu18Ter Single submitter MYPN-related disorder
p.Leu1089fs Single submitter dilated cardiomyopathy 1KK
p.Pro868fs Single submitter MYPN-related myopathy
p.Ser198fs Single submitter dilated cardiomyopathy 1KK
p.Ser19fs Single submitter MYPN-related myopathy
p.Thr336fs Single submitter

Conflicting classifications of pathogenicity 102

c.1483+1G>A Single submitter Cardiovascular phenotype
c.1483+6G>C Single submitter dilated cardiomyopathy 1KK
c.1973+17A>G Single submitter dilated cardiomyopathy 1KK
c.2565-17G>A Single submitter MYPN-related myopathy
c.3493+6G>A Single submitter dilated cardiomyopathy 1KK
c.3793+4A>G Single submitter Cardiovascular phenotype
p.Ala1022Gly Single submitter MYPN-related myopathy ⚠
p.Ala1117Val Single submitter Cardiovascular phenotype ⚠
p.Ala135Gly Single submitter dilated cardiomyopathy 1KK ⚠
p.Ala217= Single submitter dilated cardiomyopathy 1KK
p.Ala217Val Single submitter MYPN-related myopathy ⚠
p.Ala22Gly Single submitter Cardiovascular phenotype
p.Ala242Val Single submitter dilated cardiomyopathy 1KK ⚠
p.Ala329= Single submitter dilated cardiomyopathy 1KK
p.Ala839Thr Single submitter Cardiovascular phenotype ⚠
p.Ala861Val Single submitter Cardiovascular phenotype ⚠
p.Ala91Thr Single submitter Cardiovascular phenotype ⚠
p.Arg1042Cys Single submitter Cardiovascular phenotype ⚠
p.Arg1057Gln Single submitter MYPN-related myopathy ⚠
p.Arg1069Ser Single submitter Cardiovascular phenotype ⚠
p.Arg1139His Single submitter dilated cardiomyopathy 1KK ⚠
p.Arg123Ter Single submitter dilated cardiomyopathy 1KK
p.Arg1278Gln Single submitter MYPN-related myopathy ⚠
p.Arg1278Trp Single submitter dilated cardiomyopathy 1KK ⚠
p.Arg1312Gln Single submitter Cardiovascular phenotype ⚠
p.Arg1312Trp Single submitter Cardiovascular phenotype ⚠
p.Arg137Thr Single submitter dilated cardiomyopathy 1KK ⚠
p.Arg27Pro Single submitter Cardiovascular phenotype ⚠
p.Arg32fs Single submitter dilated cardiomyopathy 1KK
p.Arg377Gln Single submitter Cardiovascular phenotype ⚠
p.Arg482Lys Single submitter dilated cardiomyopathy 1KK
p.Arg489Gln Single submitter dilated cardiomyopathy 1KK ⚠
p.Arg597His Single submitter Cardiovascular phenotype ⚠
p.Arg722Gln Single submitter MYPN-related myopathy ⚠
p.Arg810His Single submitter Cardiovascular phenotype ⚠
p.Arg885Ter Single submitter Cardiovascular phenotype
p.Arg955Gln Single submitter MYPN-related myopathy ⚠
p.Arg955Trp Single submitter MYPN-related myopathy
p.Arg99Ter Single submitter MYPN-related myopathy
p.Asn84Ser Single submitter dilated cardiomyopathy 1KK ⚠
p.Asn881Ile Single submitter dilated cardiomyopathy 1KK ⚠
p.Asp120Glu Single submitter Cardiovascular phenotype ⚠
p.Asp221Val Single submitter Cardiovascular phenotype ⚠
p.Asp626Asn Single submitter dilated cardiomyopathy ⚠
p.Gln193Arg Single submitter Cardiovascular phenotype ⚠
p.Gln622Ter Single submitter dilated cardiomyopathy 1KK
p.Gln69= Single submitter Cardiovascular phenotype
p.Gln771Arg Single submitter dilated cardiomyopathy 1KK ⚠
p.Glu114Asp Single submitter Cardiovascular phenotype ⚠
p.Glu204Gly Single submitter Cardiovascular phenotype ⚠
p.Glu282Gly Single submitter MYPN-related myopathy ⚠
p.Glu990Ter Single submitter dilated cardiomyopathy 1KK
p.Gly253Arg Single submitter Cardiovascular phenotype ⚠
p.Gly425Ter Single submitter dilated cardiomyopathy 1KK
p.Gly847Val Single submitter dilated cardiomyopathy 1KK
p.His1052= Single submitter dilated cardiomyopathy 1KK
p.His564Asp Single submitter Cardiovascular phenotype ⚠
p.His934Gln Single submitter dilated cardiomyopathy 1KK ⚠
p.His991Arg Single submitter dilated cardiomyopathy 1KK ⚠
p.Ile1041Asn Single submitter Cardiovascular phenotype ⚠
p.Ile754Leu Single submitter Cardiovascular phenotype ⚠
p.Leu1161Ile Single submitter heart failure ⚠
p.Lys153Arg Single submitter dilated cardiomyopathy 1KK ⚠
p.Lys190Asn Single submitter Cardiovascular phenotype ⚠
p.Met1035Val Single submitter Cardiovascular phenotype ⚠
p.Met1305Ile Single submitter dilated cardiomyopathy 1KK ⚠
p.Met1305Val Single submitter Cardiovascular phenotype ⚠
p.Phe797Leu Single submitter Cardiovascular phenotype ⚠
p.Pro109Ser Single submitter Cardiovascular phenotype ⚠
p.Pro1101Thr Single submitter Cardiovascular phenotype ⚠
p.Pro1102= Single submitter dilated cardiomyopathy 1KK
p.Pro1102Leu Single submitter Cardiovascular phenotype ⚠
p.Pro1112Leu Single submitter hypertrophic cardiomyopathy ⚠
p.Pro1273Leu Single submitter MYPN-related myopathy ⚠
p.Pro1279= Single submitter dilated cardiomyopathy 1KK
p.Pro132Leu Single submitter dilated cardiomyopathy 1KK ⚠
p.Pro268Ser Single submitter dilated cardiomyopathy 1KK ⚠
p.Pro47Leu Single submitter arrhythmogenic right ventricular cardiomyopathy ⚠
p.Pro563Leu Single submitter Cardiovascular phenotype ⚠
p.Pro651Gln Single submitter dilated cardiomyopathy 1KK ⚠
p.Pro728Leu Single submitter dilated cardiomyopathy 1KK ⚠
p.Pro784Arg Single submitter Cardiovascular phenotype ⚠
p.Pro795Arg Single submitter Cardiovascular phenotype ⚠
p.Ser1296Thr Single submitter Cardiovascular phenotype ⚠
p.Ser131Ile Single submitter Cardiovascular phenotype ⚠
p.Ser312Phe Single submitter hypertrophic cardiomyopathy ⚠
p.Ser366Pro Single submitter Cardiovascular phenotype ⚠
p.Ser38Thr Single submitter MYPN-related myopathy ⚠
p.Ser749Asn Single submitter dilated cardiomyopathy 1KK ⚠
p.Ser854Thr Single submitter Cardiovascular phenotype ⚠
p.Ser857Thr Single submitter Cardiovascular phenotype ⚠
p.Thr620Ala Single submitter dilated cardiomyopathy 1KK ⚠
p.Thr705Ile Single submitter Cardiovascular phenotype ⚠
p.Thr717Met Single submitter Cardiovascular phenotype ⚠
p.Thr790Ala Single submitter Cardiovascular phenotype ⚠
p.Thr939= Single submitter dilated cardiomyopathy 1KK
p.Thr94Ser Single submitter long QT syndrome ⚠
p.Tyr20Cys Single submitter Cardiovascular phenotype
p.Val1195Met Single submitter MYPN-related myopathy ⚠
p.Val1255Met Single submitter Cardiovascular phenotype ⚠
p.Val318Ile Single submitter Cardiovascular phenotype ⚠
p.Val384= Single submitter Cardiovascular phenotype

Benign 125

c.1078+47T>C Multiple submitters
c.1079-131A>G Multiple submitters
c.1079-39T>A Multiple submitters
c.1130+132C>T Multiple submitters
c.1130+17G>A Multiple submitters dilated cardiomyopathy 1KK
c.1131-47A>T Multiple submitters
c.1245+17G>A Multiple submitters dilated cardiomyopathy 1KK
c.1246-41T>C Multiple submitters
c.1317+135T>A Multiple submitters
c.1317+31G>A Multiple submitters
c.1318-318T>C Multiple submitters
c.1318-322C>T Multiple submitters
c.1460-151T>A Multiple submitters
c.1483+224T>A Multiple submitters
c.1484-283T>C Multiple submitters
c.1484-336C>T Multiple submitters
c.1601-118T>C Multiple submitters
c.2564+122G>A Multiple submitters
c.2564+54A>G Multiple submitters
c.2565-182A>T Multiple submitters
c.2565-21A>G Multiple submitters dilated cardiomyopathy 1KK
c.2703+17T>C Multiple submitters MYPN-related myopathy
c.2925+9G>C Multiple submitters dilated cardiomyopathy 1KK
c.2926-178G>A Multiple submitters
c.2926-191A>G Multiple submitters
c.3076-67T>A Multiple submitters
c.3159-110C>A Multiple submitters
c.3285+105G>A Multiple submitters
c.3285+115G>A Multiple submitters
c.3285+140C>T Multiple submitters
c.3286-150G>T Multiple submitters
c.3286-192C>A Multiple submitters
c.3286-28G>T Multiple submitters dilated cardiomyopathy 1KK
c.3493+128T>C Multiple submitters
c.3493+15_3493+20del Multiple submitters dilated cardiomyopathy 1KK
c.3493+235C>A Multiple submitters
c.3493+65G>A Multiple submitters
c.3494-116A>G Multiple submitters
c.3494-85A>G Multiple submitters
c.3659+87G>A Multiple submitters
c.3660-135T>G Multiple submitters
c.3794-57C>T Multiple submitters
c.903-148T>C Multiple submitters
c.903-6294C>T Multiple submitters
c.903-6355C>T Multiple submitters
c.903-6361G>A Multiple submitters
c.-1-44C>T Multiple submitters
c.-1-92A>T Multiple submitters
c.-2+9C>T Multiple submitters MYPN-related myopathy
p.Ala721= Multiple submitters Cardiovascular phenotype
p.Asp1093= Multiple submitters Cardiovascular phenotype
p.Gln417= Multiple submitters Cardiovascular phenotype
p.Glu467Lys Multiple submitters Cardiovascular phenotype
p.Pro281= Multiple submitters MYPN-related myopathy
p.Pro625= Multiple submitters Cardiovascular phenotype
p.Ser549= Multiple submitters MYPN-related myopathy
p.Ser803Arg Multiple submitters Cardiovascular phenotype ⚠
p.Thr623= Multiple submitters Cardiovascular phenotype
p.Val393Ala Multiple submitters Cardiovascular phenotype
p.Val962= Multiple submitters dilated cardiomyopathy 1KK
c.1078+126G>A Single submitter
c.1079-215G>T Single submitter
c.1079-296T>C Single submitter
c.1131-127A>G Single submitter
c.1131-220G>C Single submitter
c.1246-235C>T Single submitter
c.1246-284C>T Single submitter
c.1459+206T>C Single submitter
c.1459+218A>G Single submitter
c.1459+291_1459+292del Single submitter
c.1459+292del Single submitter
c.1459+60_1459+63del Single submitter
c.1460-198dup Single submitter
c.1600+214C>T Single submitter
c.1600+223C>T Single submitter
c.1973+170C>T Single submitter
c.1973+171G>T Single submitter
c.1973+187A>C Single submitter
c.1973+264G>A Single submitter
c.1974-218_1974-217insG Single submitter
c.1974-218T>G Single submitter
c.1974-219G>T Single submitter
c.1974-220del Single submitter
c.2564+203G>T Single submitter
c.2565-182del Single submitter
c.2703+178G>T Single submitter
c.2704-17G>A Single submitter dilated cardiomyopathy 1KK
c.2704-336T>C Single submitter
c.2886T>C Single submitter Cardiovascular phenotype
c.2925+174T>G Single submitter
c.2926-303T>C Single submitter
c.3075+182A>G Single submitter
c.3158+258del Single submitter
c.3159-111_3159-110insA Single submitter
c.3159-197A>G Single submitter
c.3159-225G>C Single submitter
c.3159-261T>C Single submitter
c.3159-98dup Single submitter
c.3159-99_3159-98dup Single submitter
c.3285+319C>T Single submitter
c.3493+14del Single submitter cardiomyopathy
c.3493+292A>G Single submitter
c.3494-178C>T Single submitter
c.3494-181A>G Single submitter
c.3494-218T>G Single submitter
c.3494-219A>T Single submitter
c.3494-232A>G Single submitter
c.3494-233del Single submitter
c.3494-316C>T Single submitter
c.3659+113T>G Single submitter
c.3659+238G>A Single submitter
c.3659+268C>T Single submitter
c.3659+311T>C Single submitter
c.3660-276G>A Single submitter
c.3793+241G>C Single submitter
c.903-102T>C Single submitter
c.903-59_903-56del Single submitter
c.903-6665_903-6661del Single submitter
c.903-6891G>A Single submitter
c.903-7427G>A Single submitter
c.903-7477A>G Single submitter
c.-1-113C>T Single submitter
c.-1-150A>T Single submitter
c.-2+4356G>A Single submitter
c.-2+4638dup Single submitter

Benign/Likely benign 41

c.1079-18T>C Multiple submitters dilated cardiomyopathy 1KK
c.1245+16C>T Multiple submitters dilated cardiomyopathy 1KK
c.1245+20A>G Multiple submitters MYPN-related myopathy
c.1246-19G>A Multiple submitters dilated cardiomyopathy 1KK
c.1460-14T>A Multiple submitters dilated cardiomyopathy 1KK
c.1600+21G>C Multiple submitters dilated cardiomyopathy 1KK
c.2703+13G>A Multiple submitters dilated cardiomyopathy 1KK
c.2703+17_2703+19del Multiple submitters dilated cardiomyopathy 1KK
c.2703+20A>C Multiple submitters dilated cardiomyopathy 1KK
c.2704-13G>A Multiple submitters dilated cardiomyopathy 1KK
c.2925+20A>C Multiple submitters dilated cardiomyopathy 1KK
c.3075+5_3075+13del Multiple submitters dilated cardiomyopathy 1KK
c.3493+11C>T Multiple submitters dilated cardiomyopathy 1KK
c.3660-14C>T Multiple submitters dilated cardiomyopathy 1KK
c.903-6270A>G Multiple submitters
p.Ala1141Thr Multiple submitters Cardiovascular phenotype ⚠
p.Arg1139= Multiple submitters Cardiovascular phenotype
p.Arg220= Multiple submitters dilated cardiomyopathy 1KK
p.Arg631= Multiple submitters dilated cardiomyopathy 1KK
p.Glu374= Multiple submitters dilated cardiomyopathy 1KK
p.Glu648= Multiple submitters dilated cardiomyopathy 1KK
p.Gly1026= Multiple submitters Cardiovascular phenotype
p.Gly368= Multiple submitters Cardiovascular phenotype
p.Gly804Arg Multiple submitters Cardiovascular phenotype
p.Ile378= Multiple submitters Cardiovascular phenotype
p.Ile431= Multiple submitters Cardiovascular phenotype
p.Phe628Leu Multiple submitters MYPN-related myopathy
p.Pro1135Thr Multiple submitters MYPN-related myopathy
p.Pro645= Multiple submitters Cardiovascular phenotype
p.Pro816Leu Multiple submitters Cardiovascular phenotype
p.Ser1256= Multiple submitters Cardiovascular phenotype
p.Ser1282Arg Multiple submitters Cardiovascular phenotype ⚠
p.Ser691Asn Multiple submitters MYPN-related myopathy
p.Ser707Asn Multiple submitters MYPN-related myopathy
p.Ser960= Multiple submitters Cardiovascular phenotype
p.Thr1152= Multiple submitters dilated cardiomyopathy 1KK
p.Thr412= Multiple submitters Cardiovascular phenotype
p.Thr746Ala Multiple submitters Cardiovascular phenotype
p.Tyr1264= Multiple submitters Cardiovascular phenotype
p.Tyr521= Multiple submitters Cardiovascular phenotype
c.3493+6G>T No assertion criteria

Likely benign 606

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

c.1079-74C>A Multiple submitters
c.1245+19A>G Multiple submitters dilated cardiomyopathy 1KK
c.1246-16G>T Multiple submitters dilated cardiomyopathy 1KK
c.1317+13T>C Multiple submitters dilated cardiomyopathy 1KK
c.1317+17T>C Multiple submitters dilated cardiomyopathy 1KK
c.1317+7A>C Multiple submitters dilated cardiomyopathy 1KK
c.1459+19T>C Multiple submitters dilated cardiomyopathy 1KK
c.1460-13T>C Multiple submitters dilated cardiomyopathy 1KK
c.1483+11T>C Multiple submitters dilated cardiomyopathy 1KK
c.1600+14A>C Multiple submitters dilated cardiomyopathy 1KK
c.2565-7C>T Multiple submitters MYPN-related myopathy
c.2703+17_2703+18delinsCG Multiple submitters dilated cardiomyopathy 1KK
c.2704-17G>C Multiple submitters dilated cardiomyopathy 1KK
c.2925+18C>T Multiple submitters dilated cardiomyopathy 1KK
c.2926-128T>A Multiple submitters
c.2926-30A>G Multiple submitters
c.3159-19A>C Multiple submitters MYPN-related myopathy
c.3285+15C>T Multiple submitters dilated cardiomyopathy 1KK
c.3285+17A>G Multiple submitters dilated cardiomyopathy 1KK
c.3493+118C>T Multiple submitters
c.3494-6G>C Multiple submitters dilated cardiomyopathy 1KK
c.3659+14C>T Multiple submitters dilated cardiomyopathy 1KK
c.3659+54G>A Multiple submitters
c.3660-208G>C Multiple submitters
c.3794-18A>G Multiple submitters dilated cardiomyopathy 1KK
c.3794-56G>A Multiple submitters
c.902+50A>G Multiple submitters
c.903-4G>T Multiple submitters Cardiovascular phenotype
p.Ala1141= Multiple submitters Cardiovascular phenotype
p.Ala155= Multiple submitters Cardiovascular phenotype
p.Ala242= Multiple submitters Cardiovascular phenotype
p.Ala245Gly Multiple submitters dilated cardiomyopathy 1KK
p.Ala50= Multiple submitters Cardiovascular phenotype
p.Ala528= Multiple submitters dilated cardiomyopathy 1KK
p.Ala702= Multiple submitters Cardiovascular phenotype
p.Ala828= Multiple submitters dilated cardiomyopathy 1KK
p.Arg1190= Multiple submitters dilated cardiomyopathy 1KK
p.Arg1194= Multiple submitters Cardiovascular phenotype
p.Arg1312= Multiple submitters dilated cardiomyopathy 1KK
p.Arg176= Multiple submitters Cardiovascular phenotype
p.Arg206= Multiple submitters Cardiovascular phenotype
p.Arg236= Multiple submitters dilated cardiomyopathy 1KK
p.Arg27= Multiple submitters dilated cardiomyopathy 1KK
p.Arg593= Multiple submitters Cardiovascular phenotype
p.Arg621= Multiple submitters Cardiovascular phenotype
p.Arg822= Multiple submitters Cardiovascular phenotype
p.Arg850= Multiple submitters dilated cardiomyopathy 1KK
p.Arg911= Multiple submitters Cardiovascular phenotype
p.Asn541= Multiple submitters Cardiovascular phenotype
p.Asn548= Multiple submitters Cardiovascular phenotype
p.Asn633= Multiple submitters Cardiovascular phenotype
p.Asn698Ser Multiple submitters Cardiovascular phenotype
p.Asn881= Multiple submitters Cardiovascular phenotype
p.Asn914= Multiple submitters Cardiovascular phenotype
p.Asp1062= Multiple submitters dilated cardiomyopathy 1KK
p.Asp1140= Multiple submitters dilated cardiomyopathy 1KK
p.Asp1240= Multiple submitters Cardiovascular phenotype
p.Asp477= Multiple submitters Cardiovascular phenotype
p.Asp480= Multiple submitters Cardiovascular phenotype
p.Asp537= Multiple submitters dilated cardiomyopathy 1KK
p.Asp659= Multiple submitters Cardiovascular phenotype
p.Asp73= Multiple submitters Cardiovascular phenotype
p.Cys1002= Multiple submitters dilated cardiomyopathy 1KK
p.Cys1146= Multiple submitters Cardiovascular phenotype
p.Cys512= Multiple submitters dilated cardiomyopathy 1KK
p.Cys992= Multiple submitters dilated cardiomyopathy 1KK
p.Gln104= Multiple submitters Cardiovascular phenotype
p.Gln1138= Multiple submitters Cardiovascular phenotype
p.Gln14= Multiple submitters Cardiovascular phenotype
p.Gln400= Multiple submitters dilated cardiomyopathy 1KK
p.Gln629= Multiple submitters Cardiovascular phenotype
p.Gln676= Multiple submitters Cardiovascular phenotype
p.Glu1007= Multiple submitters Cardiovascular phenotype
p.Glu1192= Multiple submitters Cardiovascular phenotype
p.Glu579= Multiple submitters Cardiovascular phenotype
p.Glu614Lys Multiple submitters Cardiovascular phenotype
p.Glu630= Multiple submitters dilated cardiomyopathy 1KK
p.Glu7= Multiple submitters Cardiovascular phenotype
p.Gly1000= Multiple submitters Cardiovascular phenotype
p.Gly1087= Multiple submitters Cardiovascular phenotype
p.Gly1197= Multiple submitters Cardiovascular phenotype
p.Gly248= Multiple submitters dilated cardiomyopathy 1KK
p.Gly28= Multiple submitters Cardiovascular phenotype
p.Gly472= Multiple submitters Cardiovascular phenotype
p.Gly634Arg Multiple submitters dilated cardiomyopathy 1KK
p.Gly959= Multiple submitters dilated cardiomyopathy 1KK
p.His1119= Multiple submitters Cardiovascular phenotype
p.His226= Multiple submitters dilated cardiomyopathy 1KK
p.His316= Multiple submitters Cardiovascular phenotype
p.His531= Multiple submitters dilated cardiomyopathy 1KK
p.His599= Multiple submitters dilated cardiomyopathy 1KK
p.Ile1254= Multiple submitters Cardiovascular phenotype
p.Ile1271= Multiple submitters dilated cardiomyopathy 1KK
p.Ile317= Multiple submitters Cardiovascular phenotype
p.Ile328= Multiple submitters Cardiovascular phenotype
p.Leu1287= Multiple submitters Cardiovascular phenotype
p.Leu451= Multiple submitters dilated cardiomyopathy 1KK
p.Leu530= Multiple submitters dilated cardiomyopathy 1KK
p.Leu578= Multiple submitters Cardiovascular phenotype
p.Leu912= Multiple submitters dilated cardiomyopathy 1KK
p.Lys1237= Multiple submitters Cardiovascular phenotype
p.Lys520= Multiple submitters dilated cardiomyopathy 1KK
p.Lys575= Multiple submitters Cardiovascular phenotype
p.Lys711= Multiple submitters dilated cardiomyopathy 1KK
p.Lys949= Multiple submitters dilated cardiomyopathy 1KK
p.Lys983= Multiple submitters Cardiovascular phenotype
p.Phe113= Multiple submitters dilated cardiomyopathy 1KK
p.Phe1157= Multiple submitters dilated cardiomyopathy 1KK
p.Phe157= Multiple submitters dilated cardiomyopathy 1KK
p.Phe199= Multiple submitters dilated cardiomyopathy 1KK
p.Phe342= Multiple submitters dilated cardiomyopathy 1KK
p.Pro1100= Multiple submitters Cardiovascular phenotype
p.Pro1184= Multiple submitters dilated cardiomyopathy 1KK
p.Pro1188= Multiple submitters Cardiovascular phenotype
p.Pro1273= Multiple submitters Cardiovascular phenotype
p.Pro214= Multiple submitters dilated cardiomyopathy 1KK
p.Pro370= Multiple submitters Cardiovascular phenotype
p.Pro396= Multiple submitters Cardiovascular phenotype
p.Pro560= Multiple submitters Cardiovascular phenotype
p.Pro573= Multiple submitters Cardiovascular phenotype
p.Pro723= Multiple submitters dilated cardiomyopathy 1KK
p.Pro743= Multiple submitters Cardiovascular phenotype
p.Pro743Leu Multiple submitters Cardiovascular phenotype
p.Pro795= Multiple submitters Cardiovascular phenotype
p.Ser1056Phe Multiple submitters Cardiovascular phenotype
p.Ser112= Multiple submitters Cardiovascular phenotype
p.Ser1308= Multiple submitters Cardiovascular phenotype
p.Ser1313= Multiple submitters Cardiovascular phenotype
p.Ser163= Multiple submitters dilated cardiomyopathy 1KK
p.Ser197= Multiple submitters Cardiovascular phenotype
p.Ser255= Multiple submitters dilated cardiomyopathy 1KK
p.Ser325= Multiple submitters Cardiovascular phenotype
p.Ser340= Multiple submitters dilated cardiomyopathy 1KK
p.Ser363= Multiple submitters Cardiovascular phenotype
p.Ser48= Multiple submitters Cardiovascular phenotype
p.Ser613= Multiple submitters Cardiovascular phenotype
p.Ser644= Multiple submitters Cardiovascular phenotype
p.Ser719= Multiple submitters dilated cardiomyopathy 1KK
p.Ser774= Multiple submitters Cardiovascular phenotype
p.Ser803= Multiple submitters Cardiovascular phenotype
p.Ser818= Multiple submitters dilated cardiomyopathy 1KK
p.Ser821= Multiple submitters Cardiovascular phenotype
p.Ter1321= Multiple submitters dilated cardiomyopathy 1KK
p.Thr1001= Multiple submitters Cardiovascular phenotype
p.Thr1126= Multiple submitters Cardiovascular phenotype
p.Thr1137= Multiple submitters Cardiovascular phenotype
p.Thr1245= Multiple submitters Cardiovascular phenotype
p.Thr1304= Multiple submitters dilated cardiomyopathy 1KK
p.Thr336= Multiple submitters Cardiovascular phenotype
p.Thr349Lys Multiple submitters Cardiovascular phenotype
p.Thr550= Multiple submitters Cardiovascular phenotype
p.Thr551= Multiple submitters dilated cardiomyopathy 1KK
p.Thr717= Multiple submitters Cardiovascular phenotype
p.Thr733= Multiple submitters Cardiovascular phenotype
p.Thr736= Multiple submitters Cardiovascular phenotype
p.Thr790= Multiple submitters Cardiovascular phenotype
p.Thr820= Multiple submitters dilated cardiomyopathy 1KK
p.Thr94= Multiple submitters Cardiovascular phenotype
p.Thr957= Multiple submitters Cardiovascular phenotype
p.Tyr1284= Multiple submitters Cardiovascular phenotype
p.Tyr140= Multiple submitters Cardiovascular phenotype
p.Tyr261= Multiple submitters Cardiovascular phenotype
p.Tyr357= Multiple submitters dilated cardiomyopathy 1KK
p.Tyr903= Multiple submitters Cardiovascular phenotype
p.Val1168= Multiple submitters dilated cardiomyopathy 1KK
p.Val1189= Multiple submitters dilated cardiomyopathy 1KK
p.Val1195= Multiple submitters dilated cardiomyopathy 1KK
p.Val1277= Multiple submitters dilated cardiomyopathy 1KK
p.Val149= Multiple submitters Cardiovascular phenotype
p.Val286= Multiple submitters Cardiovascular phenotype
p.Val410Ala Multiple submitters Cardiovascular phenotype
p.Val583= Multiple submitters Cardiovascular phenotype
p.Val617= Multiple submitters Cardiovascular phenotype
p.Val646= Multiple submitters Cardiovascular phenotype
c.1078+12T>C Single submitter dilated cardiomyopathy 1KK
c.1078+14C>T Single submitter dilated cardiomyopathy 1KK
c.1078+17T>G Single submitter dilated cardiomyopathy 1KK
c.1078+69A>T Single submitter
c.1079-17T>C Single submitter dilated cardiomyopathy 1KK
c.1079-8T>C Single submitter dilated cardiomyopathy 1KK
c.1130+166A>G Single submitter
c.1130+8T>C Single submitter dilated cardiomyopathy 1KK
c.1131-147C>T Single submitter
c.1131-170A>G Single submitter
c.1131-19T>C Single submitter dilated cardiomyopathy 1KK
c.1131-20A>G Single submitter dilated cardiomyopathy 1KK
c.1131-221C>T Single submitter
c.1131-308C>A Single submitter
c.1245+12C>T Single submitter dilated cardiomyopathy 1KK
c.1245+149G>A Single submitter
c.1246-5del Single submitter dilated cardiomyopathy 1KK
c.1246-6T>C Single submitter dilated cardiomyopathy 1KK
c.1317+17T>A Single submitter dilated cardiomyopathy 1KK
c.1317+20T>C Single submitter dilated cardiomyopathy 1KK
c.1317+263C>A Single submitter
c.1318-12T>A Single submitter dilated cardiomyopathy 1KK
c.1318-12T>C Single submitter dilated cardiomyopathy 1KK
c.1318-13_1318-11del Single submitter dilated cardiomyopathy 1KK
c.1318-20C>T Single submitter dilated cardiomyopathy 1KK
c.1318-6T>C Single submitter dilated cardiomyopathy 1KK
c.1318-8_1318-6del Single submitter dilated cardiomyopathy 1KK
c.1459+10T>C Single submitter dilated cardiomyopathy 1KK
c.1459+8_1459+11del Single submitter dilated cardiomyopathy 1KK
c.1483+22_1483+26del Single submitter dilated cardiomyopathy 1KK
c.1483+9G>A Single submitter dilated cardiomyopathy 1KK
c.1600+12_1600+13del Single submitter dilated cardiomyopathy 1KK
c.1600+12T>A Single submitter dilated cardiomyopathy 1KK
c.1600+18C>T Single submitter dilated cardiomyopathy 1KK
c.1600+20A>G Single submitter dilated cardiomyopathy 1KK
c.1600+36T>G Single submitter
c.1601-17T>C Single submitter dilated cardiomyopathy 1KK
c.1601-50A>G Single submitter
c.1601-97A>T Single submitter
c.1973+10A>T Single submitter dilated cardiomyopathy 1KK
c.1973+11A>G Single submitter
c.1973+13T>C Single submitter
c.1973+14A>G Single submitter dilated cardiomyopathy 1KK
c.1973+15G>C Single submitter dilated cardiomyopathy 1KK
c.1973+16G>A Single submitter dilated cardiomyopathy 1KK
c.1974-10T>C Single submitter
c.1974-13G>C Single submitter dilated cardiomyopathy 1KK
c.1974-20C>T Single submitter dilated cardiomyopathy 1KK
c.1974-217_1974-216insGT Single submitter
c.1974-260G>A Single submitter
c.2564+15G>A Single submitter dilated cardiomyopathy 1KK
c.2564+15G>T Single submitter dilated cardiomyopathy 1KK
c.2564+16G>T Single submitter dilated cardiomyopathy 1KK
c.2565-14G>T Single submitter dilated cardiomyopathy 1KK
c.2565-155C>T Single submitter
c.2565-19G>C Single submitter dilated cardiomyopathy 1KK
c.2703+10_2703+12del Single submitter dilated cardiomyopathy 1KK
c.2703+12G>A Single submitter dilated cardiomyopathy 1KK
c.2703+172C>A Single submitter
c.2703+20_2703+22del Single submitter
c.2704-14T>G Single submitter dilated cardiomyopathy 1KK
c.2704-18C>T Single submitter dilated cardiomyopathy 1KK
c.2704-5G>C Single submitter
c.2704-7T>G Single submitter dilated cardiomyopathy 1KK
c.2925+11T>C Single submitter dilated cardiomyopathy 1KK
c.2925+11T>G Single submitter dilated cardiomyopathy 1KK
c.2925+121A>G Single submitter
c.2925+18C>A Single submitter
c.2925+9G>A Single submitter dilated cardiomyopathy 1KK
c.2926-17A>T Single submitter dilated cardiomyopathy 1KK
c.2926-199del Single submitter
c.2926-21C>A Single submitter
c.2926-291C>T Single submitter
c.3076-17C>G Single submitter dilated cardiomyopathy 1KK
c.3076-17C>T Single submitter dilated cardiomyopathy 1KK
c.3076-4T>A Single submitter dilated cardiomyopathy 1KK
c.3076-9G>C Single submitter dilated cardiomyopathy 1KK
c.3158+11_3158+14del Single submitter dilated cardiomyopathy 1KK
c.3158+17T>A Single submitter dilated cardiomyopathy 1KK
c.3158+18_3158+19del Single submitter dilated cardiomyopathy 1KK
c.3158+290A>T Single submitter
c.3158+9A>T Single submitter dilated cardiomyopathy 1KK
c.3159-18A>G Single submitter dilated cardiomyopathy 1KK
c.3159-5T>C Single submitter dilated cardiomyopathy 1KK
c.3285+18T>C Single submitter dilated cardiomyopathy 1KK
c.3285+20C>A Single submitter dilated cardiomyopathy 1KK
c.3286-10T>C Single submitter dilated cardiomyopathy 1KK
c.3286-16T>C Single submitter dilated cardiomyopathy 1KK
c.3286-17G>A Single submitter dilated cardiomyopathy 1KK
c.3286-18T>C Single submitter dilated cardiomyopathy 1KK
c.3286-20G>T Single submitter dilated cardiomyopathy 1KK
c.3286-271T>G Single submitter
c.3493+10G>T Single submitter dilated cardiomyopathy 1KK
c.3493+255A>G Single submitter
c.3493+6G>C Single submitter
c.3493+9T>C Single submitter dilated cardiomyopathy 1KK
c.3493+9T>G Single submitter dilated cardiomyopathy 1KK
c.3494-14C>T Single submitter dilated cardiomyopathy 1KK
c.3494-14del Single submitter dilated cardiomyopathy 1KK
c.3494-15C>G Single submitter dilated cardiomyopathy 1KK
c.3494-15C>T Single submitter dilated cardiomyopathy 1KK
c.3494-17A>T Single submitter dilated cardiomyopathy 1KK
c.3494-292C>T Single submitter
c.3494-6G>A Single submitter dilated cardiomyopathy 1KK
c.3494-6G>T Single submitter dilated cardiomyopathy 1KK
c.3494-9C>T Single submitter dilated cardiomyopathy 1KK
c.3659+13C>T Single submitter dilated cardiomyopathy 1KK
c.3659+19C>A Single submitter dilated cardiomyopathy 1KK
c.3659+220C>T Single submitter
c.3659+234C>G Single submitter
c.3660-12_3660-9del Single submitter dilated cardiomyopathy 1KK
c.3660-6C>G Single submitter dilated cardiomyopathy 1KK
c.3793+13C>T Single submitter dilated cardiomyopathy 1KK
c.3793+17T>C Single submitter dilated cardiomyopathy 1KK
c.3793+8T>C Single submitter dilated cardiomyopathy 1KK
c.3794-13G>A Single submitter dilated cardiomyopathy 1KK
c.3794-16T>C Single submitter dilated cardiomyopathy 1KK
c.3794-19T>C Single submitter dilated cardiomyopathy 1KK
c.3794-19T>G Single submitter dilated cardiomyopathy 1KK
c.3794-8T>C Single submitter dilated cardiomyopathy 1KK
c.3794-9A>C Single submitter dilated cardiomyopathy 1KK
c.3794-9A>T Single submitter dilated cardiomyopathy 1KK
c.902+12_902+26del Single submitter dilated cardiomyopathy 1KK
c.902+12C>T Single submitter dilated cardiomyopathy 1KK
c.902+13C>T Single submitter dilated cardiomyopathy 1KK
c.902+15T>C Single submitter

Uncertain significance 944

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

c.1130+3A>C Multiple submitters MYPN-related myopathy
c.1974-3C>T Multiple submitters dilated cardiomyopathy 1KK
c.3158+6G>T Multiple submitters dilated cardiomyopathy 1KK
c.3159-3T>C Multiple submitters Cardiovascular phenotype
p.Ala1148Ser Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Ala1148Thr Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Ala1241Thr Multiple submitters Cardiovascular phenotype
p.Ala1265Ser Multiple submitters Cardiovascular phenotype ⚠
p.Ala1265Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala238Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala238Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala245_Ala246insGluGlnAlaAlaSerGluAla Multiple submitters Cardiovascular phenotype
p.Ala246Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala329Val Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Ala35Ser Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Ala411Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala492Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala517Glu Multiple submitters Cardiovascular phenotype ⚠
p.Ala51Thr Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Ala65Asp Multiple submitters dilated cardiomyopathy 1KK
p.Ala65Val Multiple submitters MYPN-related myopathy ⚠
p.Ala699Thr Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Ala702Val Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Ala712Pro Multiple submitters Cardiovascular phenotype ⚠
p.Ala712Ser Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Ala734Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala882Ser Multiple submitters Cardiovascular phenotype ⚠
p.Ala882Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala8Pro Multiple submitters Cardiovascular phenotype ⚠
p.Arg1042His Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Arg1044Gln Multiple submitters MYPN-related myopathy ⚠
p.Arg1044Leu Multiple submitters Cardiovascular phenotype
p.Arg1044Trp Multiple submitters dilated cardiomyopathy 1KK
p.Arg1053Trp Multiple submitters Cardiovascular phenotype
p.Arg1057Ter Multiple submitters Cardiovascular phenotype
p.Arg1069Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg1069His Multiple submitters MYPN-related myopathy ⚠
p.Arg1072Gln Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Arg1088Cys Multiple submitters dilated cardiomyopathy 1KK
p.Arg1091Gln Multiple submitters MYPN-related myopathy
p.Arg1091Trp Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Arg1139Cys Multiple submitters MYPN-related myopathy
p.Arg1190Ser Multiple submitters Cardiovascular phenotype ⚠
p.Arg1190Thr Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Arg1194Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg1216Gly Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Arg1218Lys Multiple submitters Cardiovascular phenotype
p.Arg1218Ser Multiple submitters Cardiovascular phenotype ⚠
p.Arg1283Cys Multiple submitters dilated cardiomyopathy 1KK
p.Arg1283His Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Arg137Ser Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Arg205Lys Multiple submitters Cardiovascular phenotype ⚠
p.Arg206Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg270Leu Multiple submitters Cardiovascular phenotype ⚠
p.Arg276Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg276Gly Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Arg338Cys Multiple submitters Cardiovascular phenotype
p.Arg338His Multiple submitters Cardiovascular phenotype ⚠
p.Arg34Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg409Cys Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Arg482Ser Multiple submitters Cardiovascular phenotype ⚠
p.Arg597Cys Multiple submitters dilated cardiomyopathy 1KK
p.Arg631Lys Multiple submitters Cardiovascular phenotype ⚠
p.Arg722Gly Multiple submitters Cardiovascular phenotype ⚠
p.Arg810Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg810Pro Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Arg822Gln Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Arg822Trp Multiple submitters Cardiovascular phenotype ⚠
p.Arg877Cys Multiple submitters dilated cardiomyopathy 1KK
p.Arg877His Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Arg877Leu Multiple submitters Cardiovascular phenotype ⚠
p.Arg885Gln Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Arg919His Multiple submitters Cardiovascular phenotype
p.Arg919Leu Multiple submitters Cardiovascular phenotype ⚠
p.Arg922Cys Multiple submitters Cardiovascular phenotype
p.Arg922His Multiple submitters Cardiovascular phenotype ⚠
p.Asn121Lys Multiple submitters Cardiovascular phenotype ⚠
p.Asn40Ile Multiple submitters Cardiovascular phenotype ⚠
p.Asn519Asp Multiple submitters Cardiovascular phenotype ⚠
p.Asn552Ser Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Asn584Ser Multiple submitters Cardiovascular phenotype ⚠
p.Asn586Ser Multiple submitters Cardiovascular phenotype ⚠
p.Asn601Lys Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Asn668Ile Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Asn899His Multiple submitters Cardiovascular phenotype ⚠
p.Asp103Val Multiple submitters Cardiovascular phenotype ⚠
p.Asp1093Asn Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Asp1140Asn Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Asp1208Asn Multiple submitters dilated cardiomyopathy 1KK
p.Asp1208Gly Multiple submitters MYPN-related myopathy ⚠
p.Asp201Ala Multiple submitters Cardiovascular phenotype ⚠
p.Asp201Asn Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Asp221Gly Multiple submitters Cardiovascular phenotype ⚠
p.Asp249Gly Multiple submitters Cardiovascular phenotype ⚠
p.Asp289Tyr Multiple submitters MYPN-related myopathy ⚠
p.Asp365Asn Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Asp369Asn Multiple submitters Cardiovascular phenotype ⚠
p.Asp537Tyr Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Asp59Glu Multiple submitters Cardiovascular phenotype ⚠
p.Asp62Ala Multiple submitters Cardiovascular phenotype ⚠
p.Asp73Glu Multiple submitters Cardiovascular phenotype ⚠
p.Asp73His Multiple submitters MYPN-related myopathy ⚠
p.Asp86Tyr Multiple submitters Cardiovascular phenotype ⚠
p.Asp873Tyr Multiple submitters dilated cardiomyopathy 1KK
p.Cys1193Ser Multiple submitters Cardiovascular phenotype ⚠
p.Cys141Arg Multiple submitters Cardiovascular phenotype ⚠
p.Cys811Trp Multiple submitters Cardiovascular phenotype ⚠
p.Cys992Gly Multiple submitters Cardiovascular phenotype ⚠
p.Gln1037Arg Multiple submitters Cardiovascular phenotype ⚠
p.Gln119Arg Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Gln1270Glu Multiple submitters Cardiovascular phenotype ⚠
p.Gln145Arg Multiple submitters Cardiovascular phenotype ⚠
p.Gln240Glu Multiple submitters Cardiovascular phenotype ⚠
p.Gln287Lys Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Gln299Lys Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Gln442Pro Multiple submitters ⚠
p.Gln529Pro Multiple submitters Cardiovascular phenotype ⚠
p.Gln559Pro Multiple submitters Cardiovascular phenotype ⚠
p.Gln572Glu Multiple submitters Cardiovascular phenotype ⚠
p.Gln572His Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Gln665His Multiple submitters Cardiovascular phenotype ⚠
p.Gln858Arg Multiple submitters Cardiovascular phenotype ⚠
p.Glu1185Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu1210Lys Multiple submitters dilated cardiomyopathy 1KK
p.Glu18Asp Multiple submitters MYPN-related myopathy
p.Glu23Asp Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Glu262Gly Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Glu282Lys Multiple submitters MYPN-related myopathy ⚠
p.Glu36Gln Multiple submitters Cardiovascular phenotype ⚠
p.Glu471Lys Multiple submitters Cardiovascular phenotype
p.Glu504Asp Multiple submitters MYPN-related myopathy ⚠
p.Glu566Gln Multiple submitters Cardiovascular phenotype ⚠
p.Glu610Asp Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Glu630Lys Multiple submitters MYPN-related myopathy ⚠
p.Glu71Gly Multiple submitters Cardiovascular phenotype ⚠
p.Glu74Asp Multiple submitters Cardiovascular phenotype ⚠
p.Glu7Asp Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Glu909Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu958Gly Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Gly1049Asp Multiple submitters Cardiovascular phenotype ⚠
p.Gly1054Arg Multiple submitters MYPN-related myopathy ⚠
p.Gly1127Arg Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Gly1127Val Multiple submitters MYPN-related myopathy ⚠
p.Gly1182Ser Multiple submitters Cardiovascular phenotype ⚠
p.Gly1253fs Multiple submitters MYPN-related myopathy
p.Gly1253Ser Multiple submitters Cardiovascular phenotype ⚠
p.Gly1285Arg Multiple submitters Cardiovascular phenotype ⚠
p.Gly1291Ala Multiple submitters dilated cardiomyopathy 1KK
p.Gly306Asp Multiple submitters Cardiovascular phenotype
p.Gly368Asp Multiple submitters Cardiovascular phenotype ⚠
p.Gly449Cys Multiple submitters Cardiovascular phenotype ⚠
p.Gly45Arg Multiple submitters Cardiovascular phenotype ⚠
p.Gly45Ser Multiple submitters Cardiovascular phenotype ⚠
p.Gly522Ser Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Gly53Glu Multiple submitters Cardiovascular phenotype ⚠
p.Gly54Ala Multiple submitters Cardiovascular phenotype ⚠
p.Gly616Val Multiple submitters Cardiovascular phenotype ⚠
p.Gly847Glu Multiple submitters Cardiovascular phenotype ⚠
p.Gly888Arg Multiple submitters Cardiovascular phenotype ⚠
p.Gly959Asp Multiple submitters dilated cardiomyopathy 1KK ⚠
p.His1033Gln Multiple submitters Cardiovascular phenotype
p.His1129Arg Multiple submitters Cardiovascular phenotype ⚠
p.His1269Asp Multiple submitters dilated cardiomyopathy 1KK ⚠
p.His1269Tyr Multiple submitters dilated cardiomyopathy 1KK ⚠
p.His168Tyr Multiple submitters dilated cardiomyopathy 1KK ⚠
p.His43Arg Multiple submitters dilated cardiomyopathy 1KK ⚠
p.His667Arg Multiple submitters Cardiovascular phenotype ⚠
p.His953Tyr Multiple submitters Cardiovascular phenotype ⚠
p.Ile1006Ser Multiple submitters Cardiovascular phenotype ⚠
p.Ile1006Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ile1147Asn Multiple submitters Cardiovascular phenotype ⚠
p.Ile1147Thr Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Ile1196Val Multiple submitters Cardiovascular phenotype ⚠
p.Ile1263Met Multiple submitters Cardiovascular phenotype ⚠
p.Ile1294Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ile12Thr Multiple submitters MYPN-related myopathy ⚠
p.Ile12Val Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Ile173Asn Multiple submitters MYPN-related disorder ⚠
p.Ile173Met Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Ile475Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ile594Thr Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Ile6Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ile754Val Multiple submitters ⚠
p.Ile815Val Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Ile943Met Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Leu100Pro Multiple submitters Cardiovascular phenotype ⚠
p.Leu1066Pro Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Leu1108Arg Multiple submitters Cardiovascular phenotype
p.Leu1132Phe Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Leu1159Gln Multiple submitters Cardiovascular phenotype ⚠
p.Leu1175Pro Multiple submitters Cardiovascular phenotype ⚠
p.Leu1320Pro Multiple submitters Cardiovascular phenotype ⚠
p.Leu16Pro Multiple submitters Cardiovascular phenotype ⚠
p.Leu228Pro Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Leu265Pro Multiple submitters Cardiovascular phenotype ⚠
p.Leu484Phe Multiple submitters MYPN-related myopathy ⚠
p.Leu602Arg Multiple submitters Cardiovascular phenotype
p.Leu602Pro Multiple submitters dilated cardiomyopathy 1KK
p.Leu672Pro Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Leu785His Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Leu785Phe Multiple submitters Cardiovascular phenotype ⚠
p.Lys1145Gln Multiple submitters Cardiovascular phenotype ⚠
p.Lys234Asn Multiple submitters Cardiovascular phenotype ⚠
p.Lys575Arg Multiple submitters Cardiovascular phenotype ⚠
p.Lys657Arg Multiple submitters Cardiovascular phenotype ⚠
p.Lys773Glu Multiple submitters Cardiovascular phenotype ⚠
p.Lys866Asn Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Lys975Arg Multiple submitters Cardiovascular phenotype ⚠
p.Met1035Ile Multiple submitters Cardiovascular phenotype ⚠
p.Met1198Thr Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Met1221Ile Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Met1221Val Multiple submitters MYPN-related myopathy ⚠
p.Met1275Ile Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Met1275Thr Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Met1301Val Multiple submitters Cardiovascular phenotype ⚠
p.Met375Thr Multiple submitters Cardiovascular phenotype ⚠
p.Met692Ile Multiple submitters Cardiovascular phenotype ⚠
p.Met994Thr Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Phe807Ser Multiple submitters Cardiovascular phenotype ⚠
p.Pro102Ala Multiple submitters Cardiovascular phenotype ⚠
p.Pro1065Thr Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Pro1079Ser Multiple submitters Cardiovascular phenotype
p.Pro1112His Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Pro1115Leu Multiple submitters Cardiovascular phenotype ⚠
p.Pro1172Ser Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Pro1235Gln Multiple submitters Cardiovascular phenotype ⚠
p.Pro125Ala Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Pro1272Leu Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Pro1279Leu Multiple submitters Cardiovascular phenotype ⚠
p.Pro175Leu Multiple submitters Cardiovascular phenotype
p.Pro214Leu Multiple submitters Cardiovascular phenotype ⚠
p.Pro216Leu Multiple submitters Cardiovascular phenotype ⚠
p.Pro256His Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Pro269Leu Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Pro269Thr Multiple submitters Cardiovascular phenotype ⚠
p.Pro281Gln Multiple submitters Cardiovascular phenotype ⚠
p.Pro297Leu Multiple submitters Cardiovascular phenotype ⚠
p.Pro370Leu Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Pro388Ser Multiple submitters Cardiovascular phenotype ⚠
p.Pro399Leu Multiple submitters Cardiovascular phenotype ⚠
p.Pro41Ser Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Pro435Leu Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Pro479Arg Multiple submitters dilated cardiomyopathy 1KK
p.Pro479Thr Multiple submitters Cardiovascular phenotype
p.Pro558Ser Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Pro573Ser Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Pro574Ala Multiple submitters Cardiovascular phenotype ⚠
p.Pro640Ser Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Pro649Ala Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Pro651Thr Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Pro681Leu Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Pro689Leu Multiple submitters Cardiovascular phenotype ⚠
p.Pro723Leu Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Pro751Ser Multiple submitters Cardiovascular phenotype ⚠
p.Pro786Leu Multiple submitters Cardiovascular phenotype ⚠
p.Pro835Thr Multiple submitters dilated cardiomyopathy 1KK
p.Pro868Leu Multiple submitters Cardiovascular phenotype ⚠
p.Pro87Ala Multiple submitters dilated cardiomyopathy ⚠
p.Pro898Gln Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Pro898Leu Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Pro945Leu Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Pro961Ala Multiple submitters Cardiovascular phenotype ⚠
p.Ser1029Ile Multiple submitters Cardiovascular phenotype
p.Ser1031Pro Multiple submitters Cardiovascular phenotype ⚠
p.Ser1056Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ser1156Tyr Multiple submitters Cardiovascular phenotype
p.Ser1162Cys Multiple submitters MYPN-related myopathy ⚠
p.Ser1256Leu Multiple submitters Cardiovascular phenotype
p.Ser1276Thr Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Ser1280Gly Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Ser1289Gly Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Ser1299Phe Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Ser1300Phe Multiple submitters Cardiovascular phenotype ⚠
p.Ser1308Leu Multiple submitters MYPN-related myopathy ⚠
p.Ser1308Pro Multiple submitters Cardiovascular phenotype ⚠
p.Ser146Phe Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Ser19Asn Multiple submitters Cardiovascular phenotype ⚠
p.Ser209Pro Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Ser210del Multiple submitters dilated cardiomyopathy 1KK
p.Ser243Arg Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Ser258Pro Multiple submitters Cardiovascular phenotype ⚠
p.Ser340Cys Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Ser340Tyr Multiple submitters Cardiovascular phenotype
p.Ser351Leu Multiple submitters Cardiovascular phenotype
p.Ser363Phe Multiple submitters Cardiovascular phenotype ⚠
p.Ser38Phe Multiple submitters Cardiovascular phenotype ⚠
p.Ser418Asn Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Ser478Phe Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Ser561Pro Multiple submitters Cardiovascular phenotype ⚠
p.Ser591Gly Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Ser627Phe Multiple submitters Cardiovascular phenotype ⚠
p.Ser627Thr Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Ser684Cys Multiple submitters MYPN-related myopathy ⚠
p.Ser697Ala Multiple submitters Cardiovascular phenotype ⚠
p.Ser719Thr Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Ser740Phe Multiple submitters dilated cardiomyopathy 1KK ⚠
p.Ser741Gly Multiple submitters Cardiovascular phenotype ⚠
p.Ser749Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ser774Tyr Multiple submitters MYPN-related myopathy ⚠
p.Ser836Phe Multiple submitters Cardiovascular phenotype