MYBPC3 — 4369 ClinVar variants

All ClinVar germline MYBPC3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1178 flagged for review →

535 Pathogenic · 173 Pathogenic/Likely pathogenic · 214 Likely pathogenic · 389 Conflicting · 67 Benign · 89 Benign/Likely benign · 1036 Likely benign · 1866 Uncertain significance

Full MYBPC3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 1178

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 vs ClinVar 12

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

MYBPC3 p.Arg495Gln Likely pathogenic Expert panel
hypertrophic cardiomyopathy
MYBPC3 p.Arg495Gly Likely pathogenic Expert panel
hypertrophic cardiomyopathy
MYBPC3 p.Arg495Trp Likely pathogenic Expert panel
hypertrophic cardiomyopathy
MYBPC3 p.Arg502Gln Pathogenic Expert panel
hypertrophic cardiomyopathy
MYBPC3 p.Ala364Thr Pathogenic/Likely pathogenic Multiple submitters
MYBPC3-related disorder
MYBPC3 p.Arg597Gln Pathogenic/Likely pathogenic Multiple submitters
MYBPC3-related cardiomyopathies
MYBPC3 p.Glu258Lys Pathogenic/Likely pathogenic Multiple submitters
MYBPC3-related disorder
MYBPC3 p.Glu542Gln Pathogenic/Likely pathogenic Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Ala609Val Likely pathogenic Single submitter
MYBPC3 p.Glu451Gln Pathogenic Single submitter
hypertrophic cardiomyopathy
MYBPC3 p.Glu542Lys Likely pathogenic Single submitter
MYBPC3 p.Thr59Ala Pathogenic No assertion criteria
hypertrophic cardiomyopathy 4

Predictors agree, ClinVar conflicts 156

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification. · showing the 150 best-reviewed of 156

MYBPC3 p.Ala1077Ser Conflicting Single submitter
cardiomyopathy
MYBPC3 p.Ala1077Thr Conflicting Single submitter
cardiomyopathy
MYBPC3 p.Ala111Val Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Ala122Thr Conflicting Single submitter
cardiomyopathy
MYBPC3 p.Ala1255Thr Conflicting Single submitter
MYBPC3-related disorder
MYBPC3 p.Ala125Ser Conflicting Single submitter
cardiomyopathy
MYBPC3 p.Ala125Thr Conflicting Single submitter
cardiomyopathy
MYBPC3 p.Ala140Pro Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Ala149Asp Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Ala149Val Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Ala181Thr Conflicting Single submitter
cardiomyopathy
MYBPC3 p.Ala216Thr Conflicting Single submitter
left ventricular noncompaction 10
MYBPC3 p.Ala23Pro Conflicting Single submitter
cardiomyopathy
MYBPC3 p.Ala23Thr Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Ala317Val Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Ala364Val Conflicting Single submitter
cardiomyopathy
MYBPC3 p.Ala429Val Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Ala517Ser Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Ala51Ser Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Ala51Thr Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Ala552Ser Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Ala562Glu Conflicting Single submitter
hypertrophic cardiomyopathy
MYBPC3 p.Ala833Thr Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Ala848Glu Conflicting Single submitter
hypertrophic cardiomyopathy 4
MYBPC3 p.Ala851Val Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Ala97Val Conflicting Single submitter
MYBPC3-related disorder
MYBPC3 p.Arg1022Pro Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Arg1036His Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Arg1121His Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Arg1138Pro Conflicting Single submitter
MYBPC3-related disorder
MYBPC3 p.Arg1263Trp Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Arg160Gln Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Arg177Pro Conflicting Single submitter
hypertrophic cardiomyopathy
MYBPC3 p.Arg17Gln Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Arg215Cys Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Arg281Gln Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Arg302Lys Conflicting Single submitter
cardiomyopathy
MYBPC3 p.Arg306Gln Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Arg357His Conflicting Single submitter
MYBPC3-related disorder
MYBPC3 p.Arg502Gly Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Arg574Gln Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Arg63Gln Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Arg654His Conflicting Single submitter
hypertrophic cardiomyopathy 4
MYBPC3 p.Arg69Gln Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Arg726His Conflicting Single submitter
cardiomyopathy
MYBPC3 p.Arg810Leu Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Arg820Trp Conflicting Single submitter
MYBPC3-related disorder
MYBPC3 p.Arg845Ser Conflicting Single submitter
MYBPC3-related disorder
MYBPC3 p.Asn1171Ser Conflicting Single submitter
cardiomyopathy
MYBPC3 p.Asn143Ser Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Asn515Ser Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Asp151Asn Conflicting Single submitter
hypertrophic cardiomyopathy 4
MYBPC3 p.Asp228Glu Conflicting Single submitter
hypertrophic cardiomyopathy 4
MYBPC3 p.Asp587Asn Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Asp605Asn Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Asp610Asn Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Asp610His Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Cys1202Tyr Conflicting Single submitter
MYBPC3-related disorder
MYBPC3 p.Cys475Arg Conflicting Single submitter
hypertrophic cardiomyopathy
MYBPC3 p.Cys566Arg Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Gln208His Conflicting Single submitter
hypertrophic cardiomyopathy 4
MYBPC3 p.Gln998Pro Conflicting Single submitter
hypertrophic cardiomyopathy
MYBPC3 p.Glu119Lys Conflicting Single submitter
long QT syndrome
MYBPC3 p.Glu1223Gly Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Glu165Asp Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Glu223Lys Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Glu258Gln Conflicting Single submitter
MYBPC3-related disorder
MYBPC3 p.Glu334Lys Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Glu70Asp Conflicting Single submitter
cardiomyopathy
MYBPC3 p.Gly1195Val Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Gly1206Asp Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Gly1249Val Conflicting Single submitter
MYBPC3-related disorder
MYBPC3 p.Gly148Arg Conflicting Single submitter
MYBPC3-related disorder
MYBPC3 p.Gly263Arg Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Gly279Ala Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Gly341Ser Conflicting Single submitter
left ventricular noncompaction 10
MYBPC3 p.Gly490Arg Conflicting Single submitter
hypertrophic cardiomyopathy 4
MYBPC3 p.Gly56Ser Conflicting Single submitter
cardiomyopathy
MYBPC3 p.Gly596Arg Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Gly706Ser Conflicting Single submitter
hypertrophic cardiomyopathy
MYBPC3 p.Gly758Asp Conflicting Single submitter
MYBPC3-related disorder
MYBPC3 p.Gly77Glu Conflicting Single submitter
hypertrophic cardiomyopathy
MYBPC3 p.Gly805Asp Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Gly853Cys Conflicting Single submitter
MYBPC3-related disorder
MYBPC3 p.Gly868Ser Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Ile1131Thr Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Ile1250Met Conflicting Single submitter
cardiomyopathy
MYBPC3 p.Ile154Thr Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Ile415Leu Conflicting Single submitter
hypertrophic cardiomyopathy
MYBPC3 p.Ile415Val Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Ile780Val Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Ile852Val Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Ile95Thr Conflicting Single submitter
cardiomyopathy
MYBPC3 p.Leu1116Val Conflicting Single submitter
hypertrophic cardiomyopathy
MYBPC3 p.Leu1200Pro Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Leu127Arg Conflicting Single submitter
cardiomyopathy
MYBPC3 p.Leu267Val Conflicting Single submitter
cardiomyopathy
MYBPC3 p.Leu383Val Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Leu455Val Conflicting Single submitter
cardiomyopathy
MYBPC3 p.Lys779Arg Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Met1052Val Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Met1199Val Conflicting Single submitter
hypertrophic cardiomyopathy
MYBPC3 p.Met405Val Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Met518Thr Conflicting Single submitter
hypertrophic cardiomyopathy
MYBPC3 p.Pro102Leu Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Pro121Leu Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Pro132Ser Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Pro161Ser Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Pro161Thr Conflicting Single submitter
MYBPC3-related disorder
MYBPC3 p.Pro186Leu Conflicting Single submitter
Left ventricular noncompaction cardiomyopathy
MYBPC3 p.Pro26Ser Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Pro459Ser Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Pro694Leu Conflicting Single submitter
cardiomyopathy
MYBPC3 p.Pro699Ala Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Pro775Arg Conflicting Single submitter
MYBPC3 p.Pro910Thr Conflicting Single submitter
left ventricular noncompaction 10
MYBPC3 p.Ser1020Gly Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Ser138Gly Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Ser139Leu Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Ser200Gly Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Ser217Gly Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Ser25Asn Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Ser296Gly Conflicting Single submitter
cardiomyopathy
MYBPC3 p.Ser311Leu Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Ser408Asn Conflicting Single submitter
hypertrophic cardiomyopathy
MYBPC3 p.Ser50Gly Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Thr1028Ile Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Thr1057Met Conflicting Single submitter
hypertrophic cardiomyopathy 4
MYBPC3 p.Thr1075Ala Conflicting Single submitter
cardiomyopathy
MYBPC3 p.Thr114Ala Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Thr146Ile Conflicting Single submitter
cardiomyopathy
MYBPC3 p.Thr146Pro Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Thr274Lys Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Thr602Ile Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Thr62Pro Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Thr705Lys Conflicting Single submitter
cardiomyopathy
MYBPC3 p.Thr721Ser Conflicting Single submitter
hypertrophic cardiomyopathy
MYBPC3 p.Trp486Gly Conflicting Single submitter
MYBPC3-related disorder
MYBPC3 p.Tyr1251Cys Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Tyr1251His Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Tyr237His Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Tyr237Ser Conflicting Single submitter
MYBPC3-related disorder
MYBPC3 p.Tyr749Cys Conflicting Single submitter
hypertrophic cardiomyopathy
MYBPC3 p.Val1038Met Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Val1102Glu Conflicting Single submitter
hypertrophic cardiomyopathy
MYBPC3 p.Val1158Ile Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Val1252Ile Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Val168Ala Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Val168Met Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Val19Ala Conflicting Single submitter
cardiomyopathy

Predicted LoF vs a conflicting call 19

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

MYBPC3 c.1898-1G>T Conflicting Single submitter
hypertrophic cardiomyopathy 4
MYBPC3 c.1927+1G>A Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 c.2309-1G>A Conflicting Single submitter
hypertrophic cardiomyopathy 4
MYBPC3 c.292+1G>A Conflicting Single submitter
cardiomyopathy
MYBPC3 c.293-1G>C Conflicting Single submitter
hypertrophic cardiomyopathy
MYBPC3 c.3627+2T>C Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 c.3814+1G>A Conflicting Single submitter
cardiomyopathy
MYBPC3 c.505+1_505+4delinsCT Conflicting Single submitter
cardiomyopathy
MYBPC3 c.505+1G>A Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 c.654+1G>A Conflicting Single submitter
hypertrophic cardiomyopathy 4
MYBPC3 c.654+2T>C Conflicting Single submitter
hypertrophic cardiomyopathy
MYBPC3 c.851+2T>C Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 c.852-1G>T Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 c.905+1G>A Conflicting Single submitter
hypertrophic cardiomyopathy
MYBPC3 c.905+1G>T Conflicting Single submitter
hypertrophic cardiomyopathy 4
MYBPC3 c.926+1G>A Conflicting Single submitter
cardiomyopathy
MYBPC3 p.Glu838Ter Conflicting Single submitter
hypertrophic cardiomyopathy 4
MYBPC3 p.Met1Ile Conflicting Single submitter
cardiomyopathy
MYBPC3 p.Met1Leu Conflicting Single submitter
left ventricular noncompaction 10

Predictors lean, ClinVar uncertain 816

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 816

MYBPC3 p.Ser858Asn Uncertain significance Expert panel
hypertrophic cardiomyopathy
MYBPC3 p.Ala1034Thr Uncertain significance Multiple submitters
cardiomyopathy
MYBPC3 p.Ala1035Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Ala105Val Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Ala109Thr Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYBPC3 p.Ala113Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Ala113Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Ala1225Thr Uncertain significance Multiple submitters
cardiomyopathy
MYBPC3 p.Ala122Asp Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYBPC3 p.Ala1255Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Ala1262Thr Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYBPC3 p.Ala131Thr Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYBPC3 p.Ala140Val Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYBPC3 p.Ala149Gly Uncertain significance Multiple submitters
cardiomyopathy
MYBPC3 p.Ala149Thr Uncertain significance Multiple submitters
cardiomyopathy
MYBPC3 p.Ala259Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Ala36Glu Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYBPC3 p.Ala36Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Ala392Thr Uncertain significance Multiple submitters
cardiomyopathy
MYBPC3 p.Ala534Val Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Ala552Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Ala558Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Ala686Pro Uncertain significance Multiple submitters
cardiomyopathy
MYBPC3 p.Ala693Val Uncertain significance Multiple submitters
cardiomyopathy
MYBPC3 p.Ala695Thr Uncertain significance Multiple submitters
cardiomyopathy
MYBPC3 p.Ala74Thr Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYBPC3 p.Ala776Thr Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYBPC3 p.Ala776Val Uncertain significance Multiple submitters
cardiomyopathy
MYBPC3 p.Ala777Val Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Ala80Gly Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYBPC3 p.Ala80Ser Uncertain significance Multiple submitters
cardiomyopathy
MYBPC3 p.Ala80Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Ala848Gly Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 4
MYBPC3 p.Ala848Pro Uncertain significance Multiple submitters
MYBPC3 p.Ala848Thr Uncertain significance Multiple submitters
cardiomyopathy
MYBPC3 p.Ala848Val Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYBPC3 p.Ala851Thr Uncertain significance Multiple submitters
cardiomyopathy
MYBPC3 p.Ala877Val Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYBPC3 p.Ala898Ser Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYBPC3 p.Ala946Thr Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYBPC3 p.Ala954Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Ala97Ser Uncertain significance Multiple submitters
cardiomyopathy
MYBPC3 p.Arg1048Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Arg1073Gln Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYBPC3 p.Arg1073Trp Uncertain significance Multiple submitters
left ventricular noncompaction 10
MYBPC3 p.Arg1120His Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYBPC3 p.Arg1138Cys Uncertain significance Multiple submitters
cardiomyopathy
MYBPC3 p.Arg1205Pro Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYBPC3 p.Arg1226Cys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 4
MYBPC3 p.Arg1263Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Arg1267His Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Arg215His Uncertain significance Multiple submitters
cardiomyopathy
MYBPC3 p.Arg238Cys Uncertain significance Multiple submitters
cardiomyopathy
MYBPC3 p.Arg272His Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Arg273Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Arg273His Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Arg281Gly Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYBPC3 p.Arg282Gln Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYBPC3 p.Arg309Lys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYBPC3 p.Arg346Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Arg382Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Arg419His Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Arg41Leu Uncertain significance Multiple submitters
cardiomyopathy
MYBPC3 p.Arg44His Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Arg458Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Arg458His Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Arg574Leu Uncertain significance Multiple submitters
cardiomyopathy
MYBPC3 p.Arg589Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Arg724Trp Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Arg733His Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Arg834Gln Uncertain significance Multiple submitters
cardiomyopathy
MYBPC3 p.Arg834Trp Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Arg835Gly Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYBPC3 p.Arg845Cys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYBPC3 p.Arg845Gly Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYBPC3 p.Arg845Pro Uncertain significance Multiple submitters
cardiomyopathy
MYBPC3 p.Arg939Gln Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYBPC3 p.Arg945Gln Uncertain significance Multiple submitters
cardiomyopathy
MYBPC3 p.Arg970Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Arg972Gln Uncertain significance Multiple submitters
cardiomyopathy
MYBPC3 p.Asn1051Ser Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYBPC3 p.Asn253Ser Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYBPC3 p.Asn763Ser Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYBPC3 p.Asn782Ser Uncertain significance Multiple submitters
cardiomyopathy
MYBPC3 p.Asn850Ile Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Asn948Asp Uncertain significance Multiple submitters
cardiomyopathy
MYBPC3 p.Asn948Thr Uncertain significance Multiple submitters
cardiomyopathy
MYBPC3 p.Asp1091Val Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYBPC3 p.Asp1220Asn Uncertain significance Multiple submitters
cardiomyopathy
MYBPC3 p.Asp1247Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Asp211Asn Uncertain significance Multiple submitters
cardiomyopathy
MYBPC3 p.Asp228Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Asp228Gly Uncertain significance Multiple submitters
cardiomyopathy
MYBPC3 p.Asp245Glu Uncertain significance Multiple submitters
cardiomyopathy
MYBPC3 p.Asp344Gly Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYBPC3 p.Asp358Asn Uncertain significance Multiple submitters
MYBPC3-related disorder
MYBPC3 p.Asp358Glu Uncertain significance Multiple submitters
cardiomyopathy
MYBPC3 p.Asp389Glu Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 4
MYBPC3 p.Asp430Asn Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYBPC3 p.Asp462Glu Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 4
MYBPC3 p.Asp489Val Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
MYBPC3 p.Asp610Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Asp610Tyr Uncertain significance Multiple submitters
cardiomyopathy
MYBPC3 p.Asp610Val Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Asp709Asn Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYBPC3 p.Asp709Val Uncertain significance Multiple submitters
cardiomyopathy
MYBPC3 p.Asp745Gly Uncertain significance Multiple submitters
cardiomyopathy
MYBPC3 p.Asp91Asn Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYBPC3 p.Cys1124Arg Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYBPC3 p.Cys1124Tyr Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYBPC3 p.Cys1202Ser Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 4
MYBPC3 p.Cys1253Ser Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYBPC3 p.Cys1266Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Cys1266Tyr Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Cys249Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Cys426Tyr Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Cys436Arg Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYBPC3 p.Cys566Ser Uncertain significance Multiple submitters
MYBPC3-related disorder
MYBPC3 p.Cys719Arg Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYBPC3 p.Cys913Ser Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYBPC3 p.Gln1090Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Gln1103Pro Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYBPC3 p.Gln533Arg Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYBPC3 p.Gln689His Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYBPC3 p.Gln76Arg Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYBPC3 p.Gln791Arg Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYBPC3 p.Gln827Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Gln981Glu Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYBPC3 p.Glu1010Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Glu1017Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Glu1111Gly Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYBPC3 p.Glu112Val Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYBPC3 p.Glu1156Gln Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYBPC3 p.Glu1223Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Glu1239Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Glu1261Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Glu314Asp Uncertain significance Multiple submitters
cardiomyopathy
MYBPC3 p.Glu34Gln Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYBPC3 p.Glu413Gly Uncertain significance Multiple submitters
left ventricular noncompaction 10
MYBPC3 p.Glu451Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Glu496Gln Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYBPC3 p.Glu516Asp Uncertain significance Multiple submitters
cardiomyopathy
MYBPC3 p.Glu619Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Glu643Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Glu703Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Glu739Asp Uncertain significance Multiple submitters
cardiomyopathy
MYBPC3 p.Glu785Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Glu894Asp Uncertain significance Multiple submitters
cardiomyopathy
MYBPC3 p.Glu96Gln Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYBPC3 p.Glu98Gln Uncertain significance Multiple submitters
hypertrophic cardiomyopathy

Predictors split 175

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 175

MYBPC3 p.Ala482Val Uncertain significance Multiple submitters
left ventricular noncompaction 10
MYBPC3 p.Ala877Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Ala950Val Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Arg1037His Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Arg1162Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Arg1263Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Arg272Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Arg281Trp Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia
MYBPC3 p.Arg282Trp Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Arg41His Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Arg44Cys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYBPC3 p.Arg458Ser Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 4
MYBPC3 p.Arg63Trp Uncertain significance Multiple submitters
cardiomyopathy
MYBPC3 p.Arg668Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Arg69Trp Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYBPC3 p.Arg724Gln Uncertain significance Multiple submitters
cardiomyopathy
MYBPC3 p.Arg895His Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Asn251Ile Uncertain significance Multiple submitters
cardiomyopathy
MYBPC3 p.Asp1071Val Uncertain significance Multiple submitters
cardiomyopathy
MYBPC3 p.Asp198Asn Uncertain significance Multiple submitters
left ventricular noncompaction 10
MYBPC3 p.Asp198Glu Uncertain significance Multiple submitters
cardiomyopathy
MYBPC3 p.Asp214Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Asp248Asn Uncertain significance Multiple submitters
MYBPC3 p.Asp676Tyr Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Asp75Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Asp770Glu Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYBPC3 p.Cys1264Tyr Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Cys239Tyr Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Gln1070His Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYBPC3 p.Glu165Lys Uncertain significance Multiple submitters
cardiomyopathy
MYBPC3 p.Glu240Ala Uncertain significance Multiple submitters
cardiomyopathy
MYBPC3 p.Glu32Gln Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYBPC3 p.Glu759Lys Uncertain significance Multiple submitters
cardiomyopathy
MYBPC3 p.Gly1134Asp Uncertain significance Multiple submitters
cardiomyopathy
MYBPC3 p.Gly169Ser Uncertain significance Multiple submitters
cardiomyopathy
MYBPC3 p.Gly204Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Gly37Glu Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYBPC3 p.Gly46Asp Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYBPC3 p.Gly77Val Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.His1118Gln Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYBPC3 p.His831Gln Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYBPC3 p.Ile803Met Uncertain significance Multiple submitters
cardiomyopathy
MYBPC3 p.Leu156Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Leu183Phe Uncertain significance Multiple submitters
cardiomyopathy
MYBPC3 p.Leu455Phe Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 4
MYBPC3 p.Leu804Pro Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYBPC3 p.Lys1211Asn Uncertain significance Multiple submitters
cardiomyopathy
MYBPC3 p.Lys202Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Lys202Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Lys380Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Lys814Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Met1110Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Met1110Val Uncertain significance Multiple submitters
cardiomyopathy
MYBPC3 p.Met854Ile Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Met854Thr Uncertain significance Multiple submitters
cardiomyopathy
MYBPC3 p.Phe1177Leu Uncertain significance Multiple submitters
cardiomyopathy
MYBPC3 p.Phe1230Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Phe247Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Phe295Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Pro108His Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Pro329Leu Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYBPC3 p.Pro453Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Pro778Leu Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYBPC3 p.Ser275Cys Uncertain significance Multiple submitters
cardiomyopathy
MYBPC3 p.Ser296Asn Uncertain significance Multiple submitters
cardiomyopathy
MYBPC3 p.Ser50Arg Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYBPC3 p.Ser882Phe Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYBPC3 p.Thr1028Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Thr173Asn Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYBPC3 p.Thr33Ile Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYBPC3 p.Thr529Ser Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 4
MYBPC3 p.Trp1098Cys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYBPC3 p.Tyr1100Phe Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Val1125Leu Uncertain significance Multiple submitters
cardiomyopathy
MYBPC3 p.Val1126Leu Uncertain significance Multiple submitters
cardiomyopathy
MYBPC3 p.Val1158Ala Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYBPC3 p.Val158Met Benign Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Val256Ile Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Val28Met Benign/Likely benign Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Val81Phe Uncertain significance Multiple submitters
Cardiovascular phenotype
MYBPC3 p.Ala109Asp Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYBPC3 p.Ala176Gly Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYBPC3 p.Arg177Ser Likely benign Single submitter
cardiomyopathy
MYBPC3 p.Arg215Gly Uncertain significance Single submitter
Cardiovascular phenotype
MYBPC3 p.Arg238His Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Arg35Gln Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Arg382Gly Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYBPC3 p.Arg470Trp Conflicting Single submitter
hypertrophic cardiomyopathy 4
MYBPC3 p.Arg668His Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Arg69Pro Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYBPC3 p.Arg726Cys Conflicting Single submitter
hypertrophic cardiomyopathy 4
MYBPC3 p.Arg733Ser Uncertain significance Single submitter
MYBPC3 p.Arg835Ser Uncertain significance Single submitter
MYBPC3 p.Asn580Ser Uncertain significance Single submitter
Cardiovascular phenotype
MYBPC3 p.Asp1071Ala Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYBPC3 p.Asp163Gly Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYBPC3 p.Asp289Tyr Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYBPC3 p.Asp303His Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYBPC3 p.Asp587Glu Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYBPC3 p.Asp676Val Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYBPC3 p.Asp75Glu Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYBPC3 p.Cys1201Arg Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYBPC3 p.Cys1264Phe Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Gln1142Pro Uncertain significance Single submitter
MYBPC3 p.Gln1185His Uncertain significance Single submitter
cardiomyopathy
MYBPC3 p.Gln791Pro Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYBPC3 p.Glu1128Lys Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYBPC3 p.Glu240Gly Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYBPC3 p.Glu319Val Conflicting Single submitter
cardiomyopathy
MYBPC3 p.Glu332Asp Uncertain significance Single submitter
cardiomyopathy
MYBPC3 p.Glu461Gly Uncertain significance Single submitter
cardiomyopathy
MYBPC3 p.Glu480Gly Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYBPC3 p.Glu520Lys Uncertain significance Single submitter
Cardiovascular phenotype
MYBPC3 p.Glu60Gly Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYBPC3 p.Gly1134Cys Uncertain significance Single submitter
cardiomyopathy
MYBPC3 p.Gly164Val Uncertain significance Single submitter
MYBPC3 p.Gly194Asp Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYBPC3 p.Gly204Asp Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYBPC3 p.Gly378Ser Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYBPC3 p.Gly37Ala Uncertain significance Single submitter
cardiomyopathy
MYBPC3 p.Gly531Arg Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Gly620Asp Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYBPC3 p.His1123Asp Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYBPC3 p.Ile1049Phe Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYBPC3 p.Ile292Thr Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYBPC3 p.Leu545Met Conflicting Single submitter
Cardiovascular phenotype
MYBPC3 p.Leu669Met Uncertain significance Single submitter
cardiomyopathy
MYBPC3 p.Leu973Phe Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYBPC3 p.Lys1065Glu Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYBPC3 p.Lys1173Asn Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYBPC3 p.Lys1232Asn Uncertain significance Single submitter
MYBPC3 p.Lys195Arg Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYBPC3 p.Lys985Asn Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYBPC3 p.Met1199Ile Uncertain significance Single submitter
cardiomyopathy
MYBPC3 p.Met1229Thr Uncertain significance Single submitter
cardiomyopathy
MYBPC3 p.Phe1215Leu Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYBPC3 p.Phe12Leu Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYBPC3 p.Phe174Val Uncertain significance Single submitter
MYBPC3 p.Phe222Leu Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYBPC3 p.Phe305Cys Uncertain significance Single submitter
MYBPC3 p.Phe305Leu Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYBPC3 p.Phe736Leu Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYBPC3 p.Phe90Leu Likely pathogenic Single submitter
MYBPC3 p.Pro106His Uncertain significance Single submitter
Cardiovascular phenotype
MYBPC3 p.Pro1161Leu Uncertain significance Single submitter
Cardiovascular phenotype
MYBPC3 p.Pro453Leu Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYBPC3 p.Pro453Ser Conflicting Single submitter
hypertrophic cardiomyopathy 4
MYBPC3 p.Pro453Thr Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYBPC3 p.Pro608Arg Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYBPC3 p.Pro677Ala Uncertain significance Single submitter
cardiomyopathy

All MYBPC3 variants

Pathogenic 535

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

p.Arg502Gln Expert panel hypertrophic cardiomyopathy ⚠
c.1038_1042dupCGGCA Multiple submitters left ventricular noncompaction
c.1090+1G>A Multiple submitters Cardiovascular phenotype
c.1090+1G>C Multiple submitters hypertrophic cardiomyopathy
c.1090+1G>T Multiple submitters cardiomyopathy
c.1223+1G>T Multiple submitters left ventricular noncompaction 10
c.1223+2T>C Multiple submitters hypertrophic cardiomyopathy
c.1223+2T>G Multiple submitters hypertrophic cardiomyopathy
c.1235_1236delTT Multiple submitters MYBPC3-related disorder
c.1351+1G>A Multiple submitters Cardiovascular phenotype
c.1351+1G>C Multiple submitters Cardiovascular phenotype
c.1458-1G>A Multiple submitters Cardiovascular phenotype
c.1458-1G>C Multiple submitters hypertrophic cardiomyopathy 4
c.1624+2T>C Multiple submitters Cardiovascular phenotype
c.1792delG Multiple submitters Cardiovascular phenotype
c.1800delA Multiple submitters Cardiovascular phenotype
c.1928-2A>G Multiple submitters Cardiovascular phenotype
c.2067+1G>A Multiple submitters Cardiovascular phenotype
c.2149-1G>A Multiple submitters Cardiovascular phenotype
c.2149-2A>C Multiple submitters hypertrophic cardiomyopathy 4
c.2149-2del Multiple submitters MYBPC3-related disorder
c.2308+1G>A Multiple submitters Cardiovascular phenotype
c.2308+1G>T Multiple submitters hypertrophic cardiomyopathy
c.2309-2A>G Multiple submitters Cardiovascular phenotype
c.25+1G>A Multiple submitters hypertrophic cardiomyopathy 4
c.3190+1G>A Multiple submitters cardiomyopathy
c.3190+2T>G Multiple submitters Cardiovascular phenotype
c.3330+2T>C Multiple submitters hypertrophic cardiomyopathy
c.3490+1G>A Multiple submitters Cardiovascular phenotype
c.3624delC Multiple submitters MYBPC3-related disorder
c.3627+1G>A Multiple submitters Cardiovascular phenotype
c.3627+2del Multiple submitters Cardiovascular phenotype
c.506-1G>A Multiple submitters hypertrophic cardiomyopathy 4
c.506-2A>C Multiple submitters cardiomyopathy
c.655-1G>A Multiple submitters Cardiovascular phenotype
c.772+1G>A Multiple submitters Cardiovascular phenotype
c.821+1G>C Multiple submitters Cardiovascular phenotype
c.821+1G>T Multiple submitters hypertrophic cardiomyopathy 4
c.821+2T>C Multiple submitters cardiomyopathy
c.906-1G>A Multiple submitters hypertrophic cardiomyopathy
c.927-2A>G Multiple submitters MYBPC3-related disorder
p.Ala100fs Multiple submitters hypertrophic cardiomyopathy
p.Ala1034fs Multiple submitters Cardiovascular phenotype
p.Ala1056fs Multiple submitters hypertrophic cardiomyopathy 4
p.Ala1077fs Multiple submitters Cardiovascular phenotype
p.Ala109fs Multiple submitters hypertrophic cardiomyopathy
p.Ala1105fs Multiple submitters hypertrophic cardiomyopathy 4
p.Ala120fs Multiple submitters hypertrophic cardiomyopathy
p.Ala392fs Multiple submitters hypertrophic cardiomyopathy
p.Ala482fs Multiple submitters Cardiovascular phenotype
p.Ala58fs Multiple submitters hypertrophic cardiomyopathy
p.Ala741fs Multiple submitters hypertrophic cardiomyopathy
p.Arg1267fs Multiple submitters hypertrophic cardiomyopathy
p.Arg309fs Multiple submitters hypertrophic cardiomyopathy
p.Arg834fs Multiple submitters hypertrophic cardiomyopathy
p.Arg845fs Multiple submitters cardiomyopathy
p.Arg943Ter Multiple submitters MYBPC3-related disorder
p.Asn1171fs Multiple submitters hypertrophic cardiomyopathy
p.Asp152fs Multiple submitters hypertrophic cardiomyopathy
p.Asp248fs Multiple submitters hypertrophic cardiomyopathy
p.Asp289fs Multiple submitters cardiomyopathy
p.Asp560fs Multiple submitters hypertrophic cardiomyopathy 4
p.Asp605fs Multiple submitters hypertrophic cardiomyopathy
p.Asp610fs Multiple submitters cardiomyopathy
p.Asp770fs Multiple submitters Cardiovascular phenotype
p.Asp902fs Multiple submitters Cardiovascular phenotype
p.Cys436Ter Multiple submitters Cardiovascular phenotype
p.Cys651fs Multiple submitters Cardiovascular phenotype
p.Cys719_Glu720delinsTer Multiple submitters hypertrophic cardiomyopathy
p.Gln1044Ter Multiple submitters cardiomyopathy
p.Gln1061Ter Multiple submitters MYBPC3-related disorder
p.Gln1233_Gly1234delinsHisTer Multiple submitters hypertrophic cardiomyopathy
p.Gln162Ter Multiple submitters Cardiovascular phenotype
p.Gln205Ter Multiple submitters Cardiovascular phenotype
p.Gln374fs Multiple submitters Cardiovascular phenotype
p.Gln374Ter Multiple submitters Cardiovascular phenotype
p.Gln401Ter Multiple submitters hypertrophic cardiomyopathy 4
p.Gln404Ter Multiple submitters cardiomyopathy
p.Gln425Ter Multiple submitters hypertrophic cardiomyopathy
p.Gln435Ter Multiple submitters cardiomyopathy
p.Gln463Ter Multiple submitters Cardiovascular phenotype
p.Gln469Ter Multiple submitters Cardiovascular phenotype
p.Gln483Ter Multiple submitters hypertrophic cardiomyopathy
p.Gln642Ter Multiple submitters Cardiovascular phenotype
p.Gln761fs Multiple submitters Cardiovascular phenotype
p.Gln76Ter Multiple submitters hypertrophic cardiomyopathy 4
p.Gln862Ter Multiple submitters hypertrophic cardiomyopathy
p.Gln921Ter Multiple submitters cardiomyopathy
p.Gln965Ter Multiple submitters hypertrophic cardiomyopathy 4
p.Gln969Ter Multiple submitters Cardiovascular phenotype
p.Gln974Ter Multiple submitters Cardiovascular phenotype
p.Gln981fs Multiple submitters hypertrophic cardiomyopathy
p.Gln998Ter Multiple submitters Cardiovascular phenotype
p.Glu1085Ter Multiple submitters hypertrophic cardiomyopathy
p.Glu112delinsGlyProCysProCysProCysTer Multiple submitters hypertrophic cardiomyopathy
p.Glu1156fs Multiple submitters Cardiovascular phenotype
p.Glu332_Tyr333insTer Multiple submitters cardiomyopathy
p.Glu332Ter Multiple submitters hypertrophic cardiomyopathy
p.Glu334Ter Multiple submitters Cardiovascular phenotype
p.Glu370fs Multiple submitters Cardiovascular phenotype
p.Glu413Ter Multiple submitters Cardiovascular phenotype
p.Glu451Ter Multiple submitters hypertrophic cardiomyopathy
p.Glu461fs Multiple submitters Cardiovascular phenotype
p.Glu516Ter Multiple submitters hypertrophic cardiomyopathy
p.Glu537Ter Multiple submitters Cardiovascular phenotype
p.Glu542Ter Multiple submitters hypertrophic cardiomyopathy
p.Glu567fs Multiple submitters Cardiovascular phenotype
p.Glu60Ter Multiple submitters hypertrophic cardiomyopathy
p.Glu611Ter Multiple submitters Cardiovascular phenotype
p.Glu722Ter Multiple submitters hypertrophic cardiomyopathy 4
p.Glu728Ter Multiple submitters MYBPC3-related disorder
p.Glu739fs Multiple submitters Cardiovascular phenotype
p.Glu744fs Multiple submitters hypertrophic cardiomyopathy 4
p.Glu907Ter Multiple submitters hypertrophic cardiomyopathy
p.Gly1164fs Multiple submitters hypertrophic cardiomyopathy
p.Gly118fs Multiple submitters hypertrophic cardiomyopathy
p.Gly1206fs Multiple submitters cardiomyopathy
p.Gly1222Ter Multiple submitters Cardiovascular phenotype
p.Gly1249fs Multiple submitters Cardiovascular phenotype
p.Gly136fs Multiple submitters Cardiovascular phenotype
p.Gly144fs Multiple submitters hypertrophic cardiomyopathy 4
p.Gly263Ter Multiple submitters Cardiovascular phenotype
p.Gly61fs Multiple submitters Cardiovascular phenotype
p.Gly853fs Multiple submitters cardiomyopathy
p.His524fs Multiple submitters hypertrophic cardiomyopathy
p.Ile539fs Multiple submitters hypertrophic cardiomyopathy
p.Ile837fs Multiple submitters Cardiovascular phenotype
p.Ile852fs Multiple submitters cardiomyopathy
p.Leu1014fs Multiple submitters left ventricular noncompaction 10
p.Leu104fs Multiple submitters Cardiovascular phenotype
p.Leu1236fs Multiple submitters Cardiovascular phenotype
p.Leu1258Ter Multiple submitters hypertrophic cardiomyopathy
p.Leu460fs Multiple submitters Cardiovascular phenotype
p.Leu545fs Multiple submitters Cardiovascular phenotype
p.Leu930fs Multiple submitters Cardiovascular phenotype
p.Lys1000Ter Multiple submitters Cardiovascular phenotype
p.Lys1055Ter Multiple submitters Cardiovascular phenotype
p.Lys353fs Multiple submitters hypertrophic cardiomyopathy
p.Lys395Ter Multiple submitters hypertrophic cardiomyopathy
p.Lys418Ter Multiple submitters Cardiovascular phenotype
p.Lys54fs Multiple submitters hypertrophic cardiomyopathy
p.Lys579fs Multiple submitters hypertrophic cardiomyopathy
p.Lys731fs Multiple submitters Cardiovascular phenotype
p.Lys754fs Multiple submitters Cardiovascular phenotype
p.Lys985fs Multiple submitters hypertrophic cardiomyopathy
p.Lys985Ter Multiple submitters hypertrophic cardiomyopathy
p.Met1110fs Multiple submitters hypertrophic cardiomyopathy
p.Met819fs Multiple submitters Cardiovascular phenotype
p.Met949fs Multiple submitters Cardiovascular phenotype
p.Phe473fs Multiple submitters Cardiovascular phenotype
p.Phe621fs Multiple submitters MYBPC3-related disorder
p.Phe631fs Multiple submitters hypertrophic cardiomyopathy
p.Pro1157fs Multiple submitters Cardiovascular phenotype
p.Pro1161fs Multiple submitters cardiomyopathy
p.Pro117fs Multiple submitters Cardiovascular phenotype
p.Pro121fs Multiple submitters Cardiovascular phenotype
p.Pro161fs Multiple submitters Cardiovascular phenotype
p.Pro453fs Multiple submitters Cardiovascular phenotype
p.Pro586fs Multiple submitters Cardiovascular phenotype
p.Pro756fs Multiple submitters Cardiovascular phenotype
p.Pro795fs Multiple submitters cardiomyopathy
p.Pro892fs Multiple submitters hypertrophic cardiomyopathy
p.Pro893fs Multiple submitters hypertrophic cardiomyopathy
p.Pro910fs Multiple submitters Cardiovascular phenotype
p.Ser137Ter Multiple submitters Cardiovascular phenotype
p.Ser18Ter Multiple submitters cardiomyopathy
p.Ser242fs Multiple submitters Cardiovascular phenotype
p.Ser296fs Multiple submitters hypertrophic cardiomyopathy
p.Ser311Ter Multiple submitters Cardiovascular phenotype
p.Ser424fs Multiple submitters hypertrophic cardiomyopathy
p.Ser444fs Multiple submitters Cardiovascular phenotype
p.Ser593fs Multiple submitters Cardiovascular phenotype
p.Ser78_Tyr79insTer Multiple submitters hypertrophic cardiomyopathy 4
p.Ser882fs Multiple submitters Cardiovascular phenotype
p.Thr1256fs Multiple submitters hypertrophic cardiomyopathy
p.Thr33fs Multiple submitters cardiomyopathy
p.Thr343fs Multiple submitters cardiomyopathy
p.Thr529fs Multiple submitters hypertrophic cardiomyopathy
p.Thr705fs Multiple submitters Cardiovascular phenotype
p.Thr885delinsArgGlyArgLeuTer Multiple submitters hypertrophic cardiomyopathy
p.Thr927fs Multiple submitters Cardiovascular phenotype
p.Thr959fs Multiple submitters Cardiovascular phenotype
p.Trp1007Ter Multiple submitters cardiomyopathy
p.Trp1086Ter Multiple submitters MYBPC3-related disorder
p.Trp1098Ter Multiple submitters hypertrophic cardiomyopathy 4
p.Trp1112Ter Multiple submitters MYBPC3-related disorder
p.Trp196fs Multiple submitters hypertrophic cardiomyopathy
p.Trp322Ter Multiple submitters Cardiovascular phenotype
p.Trp396Ter Multiple submitters Cardiovascular phenotype
p.Trp42fs Multiple submitters cardiomyopathy
p.Trp486Ter Multiple submitters Cardiovascular phenotype
p.Trp577fs Multiple submitters Cardiovascular phenotype
p.Trp577Ter Multiple submitters hypertrophic cardiomyopathy
p.Trp818fs Multiple submitters hypertrophic cardiomyopathy
p.Trp818Ter Multiple submitters familial hypertrophic cardiomyopathy
p.Trp916Ter Multiple submitters Cardiovascular phenotype
p.Tyr1043Ter Multiple submitters hypertrophic cardiomyopathy
p.Tyr1136Ter Multiple submitters MYBPC3-related disorder
p.Tyr333Ter Multiple submitters cardiomyopathy
p.Tyr340_Gly341insTer Multiple submitters hypertrophic cardiomyopathy
p.Tyr434Ter Multiple submitters Cardiovascular phenotype
p.Tyr548fs Multiple submitters hypertrophic cardiomyopathy
p.Tyr797Ter Multiple submitters hypertrophic cardiomyopathy
p.Tyr79Ter Multiple submitters Cardiovascular phenotype
p.Tyr842fs Multiple submitters MYBPC3-related disorder
p.Tyr842Ter Multiple submitters hypertrophic cardiomyopathy
p.Tyr847Ter Multiple submitters hypertrophic cardiomyopathy
p.Val385fs Multiple submitters hypertrophic cardiomyopathy 4
p.Val634fs Multiple submitters hypertrophic cardiomyopathy
p.Val681fs Multiple submitters cardiomyopathy
p.Val771fs Multiple submitters MYBPC3-related disorder
c.1090+2T>G Single submitter
c.1091-?_2308+?del Single submitter hypertrophic cardiomyopathy
c.1091-2A>C Single submitter Cardiovascular phenotype
c.1224-1G>C Single submitter hypertrophic cardiomyopathy 4
c.1227-1G>C Single submitter hypertrophic cardiomyopathy 4
c.1301_1624+8del Single submitter hypertrophic cardiomyopathy
c.1351+1G>T Single submitter hypertrophic cardiomyopathy 4
c.1352-1G>A Single submitter hypertrophic cardiomyopathy
c.1458-1G>T Single submitter hypertrophic cardiomyopathy
c.1460_1624+67del Single submitter hypertrophic cardiomyopathy
c.1624+1G>A Single submitter hypertrophic cardiomyopathy
c.1624+2T>G Single submitter hypertrophic cardiomyopathy 4
c.1625-2A>C Single submitter cardiomyopathy
c.1625-2A>G Single submitter Cardiovascular phenotype
c.1790+1G>C Single submitter hypertrophic cardiomyopathy
c.1790+1G>T Single submitter hypertrophic cardiomyopathy
c.1791-2A>C Single submitter
c.2068-9T>A Single submitter hypertrophic cardiomyopathy 4
c.(2148+1_2149-1 Single submitter Cardiovascular phenotype
c.2149-1G>T Single submitter hypertrophic cardiomyopathy 4
c.2149-2A>G Single submitter
c.2309-3C>G Single submitter hypertrophic cardiomyopathy 4
c.2413+1del Single submitter hypertrophic cardiomyopathy
c.25+1G>C Single submitter hypertrophic cardiomyopathy
c.26-1G>T Single submitter hypertrophic cardiomyopathy 4
c.2737+1G>C Single submitter MYBPC3-related disorder
c.2894_2905+4del Single submitter cardiomyopathy
c.2905+1_3628-1del Single submitter cardiomyopathy
c.2905+2T>C Single submitter hypertrophic cardiomyopathy
c.(?_2906 Single submitter hypertrophic cardiomyopathy
c.2994+1G>A Single submitter hypertrophic cardiomyopathy
c.3190+1del Single submitter hypertrophic cardiomyopathy
c.3190+3del Single submitter
c.3191-2A>C Single submitter
c.3315delG Single submitter cardiomyopathy
c.3627+2T>G Single submitter hypertrophic cardiomyopathy
c.506-13_585delinsATT Single submitter hypertrophic cardiomyopathy
c.506-1G>T Single submitter hypertrophic cardiomyopathy
c.506-3_506dup Single submitter hypertrophic cardiomyopathy
c.655-2A>C Single submitter MYBPC3-related disorder
c.655-2del Single submitter hypertrophic cardiomyopathy 4
c.772+2T>C Single submitter hypertrophic cardiomyopathy
c.821+2T>A Single submitter hypertrophic cardiomyopathy
c.905+1del Single submitter hypertrophic cardiomyopathy
c.927-2A>T Single submitter
p.Ala1015fs Single submitter left ventricular noncompaction 10
p.Ala1035fs Single submitter hypertrophic cardiomyopathy 4
p.Ala105fs Single submitter hypertrophic cardiomyopathy
p.Ala107fs Single submitter hypertrophic cardiomyopathy
p.Ala1152fs Single submitter hypertrophic cardiomyopathy
p.Ala1194fs Single submitter hypertrophic cardiomyopathy 4
p.Ala179fs Single submitter hypertrophic cardiomyopathy 4
p.Ala22fs Single submitter hypertrophic cardiomyopathy
p.Ala23fs Single submitter cardiomyopathy
p.Ala259fs Single submitter Cardiovascular phenotype
p.Ala27fs Single submitter cardiomyopathy
p.Ala31fs Single submitter hypertrophic cardiomyopathy
p.Ala372fs Single submitter hypertrophic cardiomyopathy 4
p.Ala526Pro Single submitter mitochondrial disease
p.Ala776fs Single submitter hypertrophic cardiomyopathy
p.Ala848fs Single submitter cardiomyopathy
p.Ala860fs Single submitter
p.Ala898fs Single submitter hypertrophic cardiomyopathy
p.Ala938fs Single submitter hypertrophic cardiomyopathy
p.Ala946fs Single submitter hypertrophic cardiomyopathy
p.Arg1033fs Single submitter hypertrophic cardiomyopathy 4
p.Arg1073fs Single submitter hypertrophic cardiomyopathy
p.Arg1121fs Single submitter hypertrophic cardiomyopathy
p.Arg1150fs Single submitter Cardiovascular phenotype
p.Arg1190fs Single submitter Cardiovascular phenotype
p.Arg1205fs Single submitter Cardiovascular phenotype
p.Arg1241fs Single submitter hypertrophic cardiomyopathy
p.Arg1241Ter Single submitter Cardiovascular phenotype
p.Arg177fs Single submitter Cardiovascular phenotype
p.Arg357fs Single submitter
p.Arg495fs Single submitter Cardiovascular phenotype
p.Arg502fs Single submitter MYBPC3-related disorder
p.Arg63fs Single submitter hypertrophic cardiomyopathy 4
p.Arg641fs Single submitter hypertrophic cardiomyopathy
p.Arg654fs Single submitter Cardiovascular phenotype
p.Arg696fs Single submitter Cardiovascular phenotype
p.Arg726fs Single submitter hypertrophic cardiomyopathy
p.Arg820_Leu821insTer Single submitter hypertrophic cardiomyopathy
p.Arg835fs Single submitter Cardiovascular phenotype
p.Arg856fs Single submitter hypertrophic cardiomyopathy
p.Asn1023fs Single submitter Cardiovascular phenotype
p.Asn1081Ter Single submitter Cardiovascular phenotype
p.Asn1257fs Single submitter hypertrophic cardiomyopathy 4
p.Asn399fs Single submitter hypertrophic cardiomyopathy

Pathogenic/Likely pathogenic 173

c.1091-2A>G Multiple submitters Cardiovascular phenotype
c.1223+1G>A Multiple submitters cardiomyopathy
c.1224-19G>A Multiple submitters MYBPC3-related disorder
c.1224-2A>G Multiple submitters Cardiovascular phenotype
c.1224-52G>A Multiple submitters MYBPC3-related disorder
c.1224-80G>A Multiple submitters Cardiovascular phenotype
c.1227-13G>A Multiple submitters MYBPC3-related disorder
c.1227-2A>G Multiple submitters Cardiovascular phenotype
c.1351+2T>C Multiple submitters Cardiovascular phenotype
c.1351+2T>G Multiple submitters hypertrophic cardiomyopathy
c.1352-2A>G Multiple submitters Cardiovascular phenotype
c.1404delG Multiple submitters Cardiovascular phenotype
c.1624+1G>C Multiple submitters cardiomyopathy
c.1624+1G>T Multiple submitters hypertrophic cardiomyopathy
c.1624+4A>T Multiple submitters MYBPC3-related disorder
c.1790+1G>A Multiple submitters familial hypertrophic cardiomyopathy
c.1897+1G>A Multiple submitters MYBPC3-related disorder
c.1898-1G>A Multiple submitters hypertrophic cardiomyopathy
c.1927+600C>T Multiple submitters hypertrophic cardiomyopathy 4
c.2148+1G>T Multiple submitters Cardiovascular phenotype
c.2413+1G>A Multiple submitters hypertrophic cardiomyopathy 4
c.2603-2A>G Multiple submitters Cardiovascular phenotype
c.2737+1G>A Multiple submitters cardiomyopathy
c.2737+2_2737+3del Multiple submitters MYBPC3-related disorder
c.2737+2T>A Multiple submitters hypertrophic cardiomyopathy
c.2738-2A>C Multiple submitters MYBPC3-related disorder
c.2738-2A>G Multiple submitters hypertrophic cardiomyopathy
c.2905+1G>A Multiple submitters MYBPC3-related disorder
c.2905+1G>C Multiple submitters MYBPC3-related disorder
c.2905+2T>A Multiple submitters hypertrophic cardiomyopathy
c.2906-2A>G Multiple submitters Cardiovascular phenotype
c.2994+2T>C Multiple submitters hypertrophic cardiomyopathy
c.2995-1G>A Multiple submitters MYBPC3-related disorder
c.3182_3190+4del Multiple submitters cardiomyopathy
c.3190+5G>A Multiple submitters hypertrophic cardiomyopathy
c.3217dupC Multiple submitters MYBPC3-related disorder
c.3330+1G>T Multiple submitters Cardiovascular phenotype
c.3330+2T>A Multiple submitters Cardiovascular phenotype
c.3330+2T>G Multiple submitters MYBPC3-related disorder
c.3330+5G>C Multiple submitters Cardiovascular phenotype
c.3330+5G>T Multiple submitters hypertrophic cardiomyopathy
c.3331-1G>A Multiple submitters Cardiovascular phenotype
c.3331-1G>C Multiple submitters Cardiovascular phenotype
c.3331-2A>C Multiple submitters Cardiovascular phenotype
c.3490+1G>T Multiple submitters Cardiovascular phenotype
c.3491-1G>A Multiple submitters Cardiovascular phenotype
c.3491-2A>T Multiple submitters MYBPC3-related disorder
c.3815-1G>A Multiple submitters Cardiovascular phenotype
c.407-2A>G Multiple submitters cardiomyopathy
c.505_505+7del Multiple submitters hypertrophic cardiomyopathy
c.506-2A>G Multiple submitters hypertrophic cardiomyopathy 4
c.655-2A>G Multiple submitters cardiomyopathy
c.821+1G>A Multiple submitters MYBPC3-related disorder
c.821+3G>T Multiple submitters Cardiovascular phenotype
c.821+5G>A Multiple submitters MYBPC3-related disorder
c.852-1G>A Multiple submitters cardiomyopathy
c.852-2A>G Multiple submitters hypertrophic cardiomyopathy 4
c.906-1G>C Multiple submitters Cardiovascular phenotype
c.913_914delTT Multiple submitters MYBPC3-related disorder
c.927-10C>A Multiple submitters Cardiovascular phenotype
c.927-1G>C Multiple submitters hypertrophic cardiomyopathy
c.927-9G>A Multiple submitters left ventricular noncompaction 10
p.Ala124_Ala125insTer Multiple submitters Cardiovascular phenotype
p.Ala364Thr Multiple submitters MYBPC3-related disorder ⚠
p.Ala388fs Multiple submitters Cardiovascular phenotype
p.Arg1002fs Multiple submitters cardiomyopathy
p.Arg1254fs Multiple submitters cardiomyopathy
p.Arg502Trp Multiple submitters MYBPC3-related disorder
p.Arg509fs Multiple submitters hypertrophic cardiomyopathy 4
p.Arg597Gln Multiple submitters MYBPC3-related cardiomyopathies ⚠
p.Arg820Gln Multiple submitters Cardiovascular phenotype
p.Arg891fs Multiple submitters hypertrophic cardiomyopathy 4
p.Arg945fs Multiple submitters hypertrophic cardiomyopathy 4
p.Asn1081fs Multiple submitters MYBPC3-related disorder
p.Asn755Lys Multiple submitters Cardiovascular phenotype
p.Asn850fs Multiple submitters hypertrophic cardiomyopathy 4
p.Asp151fs Multiple submitters hypertrophic cardiomyopathy 4
p.Asp462fs Multiple submitters hypertrophic cardiomyopathy 4
p.Asp613fs Multiple submitters hypertrophic cardiomyopathy 1
p.Asp770Asn Multiple submitters MYBPC3-related disorder
p.Cys1124Ter Multiple submitters Cardiovascular phenotype
p.Cys1201fs Multiple submitters cardiomyopathy
p.Cys1244Ter Multiple submitters MYBPC3-related disorder
p.Cys249Ter Multiple submitters MYBPC3-related disorder
p.Cys426Ter Multiple submitters hypertrophic cardiomyopathy
p.Cys528fs Multiple submitters MYBPC3-related disorder
p.Cys623Ter Multiple submitters MYBPC3-related disorder
p.Cys909Ter Multiple submitters Cardiovascular phenotype
p.Gln1004fs Multiple submitters hypertrophic cardiomyopathy
p.Gln1012Ter Multiple submitters hypertrophic cardiomyopathy 4
p.Gln1070Ter Multiple submitters hypertrophic cardiomyopathy
p.Gln1185Ter Multiple submitters MYBPC3-related disorder
p.Gln1233Ter Multiple submitters MYBPC3-related disorder
p.Gln1259Ter Multiple submitters hypertrophic cardiomyopathy
p.Gln327Ter Multiple submitters MYBPC3-related disorder
p.Gln339Ter Multiple submitters Cardiovascular phenotype
p.Gln508Ter Multiple submitters MYBPC3-related disorder
p.Gln533fs Multiple submitters hypertrophic cardiomyopathy 4
p.Gln549Ter Multiple submitters hypertrophic cardiomyopathy 4
p.Gln689Ter Multiple submitters hypertrophic cardiomyopathy 4
p.Gln761Ter Multiple submitters hypertrophic cardiomyopathy
p.Gln791Ter Multiple submitters cardiomyopathy
p.Glu1096Ter Multiple submitters Cardiovascular phenotype
p.Glu112Ter Multiple submitters Cardiovascular phenotype
p.Glu20fs Multiple submitters MYBPC3-related disorder
p.Glu258Lys Multiple submitters MYBPC3-related disorder ⚠
p.Glu542Gln Multiple submitters Cardiovascular phenotype ⚠
p.Glu60fs Multiple submitters Sudden unexplained death or survivors of a cardiac event
p.Glu619Ter Multiple submitters MYBPC3-related disorder
p.Glu838fs Multiple submitters hypertrophic cardiomyopathy
p.Glu872Ter Multiple submitters Cardiovascular phenotype
p.Gly1248_Cys1253dup Multiple submitters Cardiovascular phenotype
p.Gly204fs Multiple submitters MYBPC3-related disorder
p.Gly37_Val38insTer Multiple submitters Cardiovascular phenotype
p.Gly575fs Multiple submitters hypertrophic cardiomyopathy
p.Gly799fs Multiple submitters hypertrophic cardiomyopathy 4
p.Gly922_Leu923insTer Multiple submitters Cardiovascular phenotype
p.His390fs Multiple submitters familial hypertrophic cardiomyopathy
p.His831fs Multiple submitters MYBPC3-related disorder
p.Ile551fs Multiple submitters hypertrophic cardiomyopathy 4
p.Ile603fs Multiple submitters cardiomyopathy
p.Leu1221fs Multiple submitters Cardiovascular phenotype
p.Leu1238fs Multiple submitters cardiomyopathy
p.Leu156Profs Multiple submitters hypertrophic cardiomyopathy
p.Leu535fs Multiple submitters familial hypertrophic cardiomyopathy
p.Leu92fs Multiple submitters Cardiovascular phenotype
p.Lys1209fs Multiple submitters hypertrophic cardiomyopathy 4
p.Lys1232Ter Multiple submitters MYBPC3-related disorder
p.Lys1242fs Multiple submitters hypertrophic cardiomyopathy
p.Lys185fs Multiple submitters Cardiovascular phenotype
p.Lys185Ter Multiple submitters Cardiovascular phenotype
p.Lys301Ter Multiple submitters MYBPC3-related disorder
p.Lys543fs Multiple submitters hypertrophic cardiomyopathy
p.Lys932fs Multiple submitters
p.Met844fs Multiple submitters cardiomyopathy
p.Met854fs Multiple submitters hypertrophic cardiomyopathy
p.Phe1246fs Multiple submitters hypertrophic cardiomyopathy 4
p.Phe295fs Multiple submitters Cardiovascular phenotype
p.Phe29fs Multiple submitters hypertrophic cardiomyopathy 4
p.Phe864fs Multiple submitters hypertrophic cardiomyopathy
p.Phe942fs Multiple submitters Cardiovascular phenotype
p.Pro608fs Multiple submitters hypertrophic cardiomyopathy
p.Pro73fs Multiple submitters cardiomyopathy
p.Ser139Ter Multiple submitters Cardiovascular phenotype
p.Ser362fs Multiple submitters Cardiovascular phenotype
p.Ser376fs Multiple submitters hypertrophic cardiomyopathy 4
p.Ser85fs Multiple submitters Cardiovascular phenotype
p.Ser914fs Multiple submitters hypertrophic cardiomyopathy
p.Thr1184fs Multiple submitters hypertrophic cardiomyopathy
p.Thr1256del Multiple submitters MYBPC3-related disorder
p.Thr65fs Multiple submitters hypertrophic cardiomyopathy
p.Thr957fs Multiple submitters Cardiovascular phenotype
p.Trp1078Ter Multiple submitters Cardiovascular phenotype
p.Trp1214Ter Multiple submitters Left ventricular noncompaction cardiomyopathy
p.Trp683Ter Multiple submitters hypertrophic cardiomyopathy
p.Trp792Arg Multiple submitters Cardiovascular phenotype
p.Trp792Ter Multiple submitters MYBPC3-related disorder
p.Trp890Ter Multiple submitters left ventricular noncompaction 10
p.Tyr1043fs Multiple submitters hypertrophic cardiomyopathy
p.Tyr1100fs Multiple submitters MYBPC3-related disorder
p.Tyr1100Ter Multiple submitters hypertrophic cardiomyopathy
p.Tyr1251fs Multiple submitters cardiomyopathy
p.Tyr237Ter Multiple submitters hypertrophic cardiomyopathy 4
p.Tyr525fs Multiple submitters Cardiovascular phenotype
p.Val1158fs Multiple submitters hypertrophic cardiomyopathy 4
p.Val189fs Multiple submitters Cardiovascular phenotype
p.Val219Leu Multiple submitters Cardiovascular phenotype
p.Val219Phe Multiple submitters Cardiovascular phenotype
p.Val38fs Multiple submitters Cardiovascular phenotype
p.Val437fs Multiple submitters cardiomyopathy
p.Val454fs Multiple submitters cardiomyopathy
p.Val841_Tyr842insTer Multiple submitters Cardiovascular phenotype
c.2148+1G>A Single submitter cardiomyopathy

Likely pathogenic 214

p.Arg495Gln Expert panel hypertrophic cardiomyopathy ⚠
p.Arg495Gly Expert panel hypertrophic cardiomyopathy ⚠
p.Arg495Trp Expert panel hypertrophic cardiomyopathy ⚠
c.1090+453C>T Multiple submitters hypertrophic cardiomyopathy
c.1227-39_1263del Multiple submitters Cardiovascular phenotype
c.1457+5G>C Multiple submitters hypertrophic cardiomyopathy 4
c.1927+1G>T Multiple submitters hypertrophic cardiomyopathy 4
c.2068-2A>G Multiple submitters cardiomyopathy
c.2291_2308+3del Multiple submitters Cardiovascular phenotype
c.2414-1G>A Multiple submitters dilated cardiomyopathy 1A
c.2602+2T>G Multiple submitters Cardiovascular phenotype
c.2603-1G>C Multiple submitters Inborn genetic diseases
c.293-2A>G Multiple submitters hypertrophic cardiomyopathy
c.2994+1del Multiple submitters Cardiovascular phenotype
c.3331-2A>G Multiple submitters hypertrophic cardiomyopathy
c.3593_3627+20del Multiple submitters Cardiovascular phenotype
c.406+1G>A Multiple submitters hypertrophic cardiomyopathy
c.407-1G>A Multiple submitters hypertrophic cardiomyopathy 4
c.505+1G>C Multiple submitters cardiomyopathy
c.505+5G>C Multiple submitters MYBPC3-related disorder
c.654+1G>T Multiple submitters MYBPC3-related disorder
c.773-1G>C Multiple submitters hypertrophic cardiomyopathy 4
c.852-2A>T Multiple submitters MYBPC3-related disorder
c.926+1G>C Multiple submitters hypertrophic cardiomyopathy
c.927_928delGG Multiple submitters hypertrophic cardiomyopathy
c.927-8G>A Multiple submitters hypertrophic cardiomyopathy
p.Asp1076fs Multiple submitters Cardiovascular phenotype
p.Gln208Ter Multiple submitters hypertrophic cardiomyopathy
p.Glu1261fs Multiple submitters Cardiovascular phenotype
p.Leu1238Pro Multiple submitters Cardiovascular phenotype
p.Lys505del Multiple submitters MYBPC3-related disorder
p.Phe1159fs Multiple submitters cardiomyopathy
p.Phe448Ser Multiple submitters hypertrophic cardiomyopathy
p.Ser18fs Multiple submitters left ventricular noncompaction 10
p.Val1139fs Multiple submitters hypertrophic cardiomyopathy 4
c.1133_1226+6delinsA Single submitter hypertrophic cardiomyopathy
c.1227-1G>A Single submitter hypertrophic cardiomyopathy
c.1227-1G>T Single submitter hypertrophic cardiomyopathy
c.1352-2_1355del Single submitter hypertrophic cardiomyopathy
c.1449_1457+4del Single submitter hypertrophic cardiomyopathy
c.1457_1457+1delinsCT Single submitter hypertrophic cardiomyopathy
c.1457_1457+25delinsC Single submitter cardiomyopathy
c.1457+2del Single submitter Cardiovascular phenotype
c.1457+2T>G Single submitter Cardiovascular phenotype
c.1624_1624+1delinsAGCTCAT Single submitter hypertrophic cardiomyopathy 4
c.1624+1_1624+10del Single submitter hypertrophic cardiomyopathy 4
c.1791-1G>A Single submitter
c.1791-2del Single submitter hypertrophic cardiomyopathy
c.1897+1del Single submitter MYBPC3-related disorder
c.1897+4A>C Single submitter
c.(1927+1_1928-1 Single submitter Cardiovascular phenotype
c.1927+337G>T Single submitter hypertrophic cardiomyopathy 4
c.2067+2del Single submitter hypertrophic cardiomyopathy 4
c.2070del Single submitter hypertrophic cardiomyopathy 4
c.2302_2308+22del Single submitter hypertrophic cardiomyopathy
c.2413+1G>T Single submitter
c.2413+2T>A Single submitter Cardiovascular phenotype
c.2414-2_2414-1delinsTCCA Single submitter
c.2414-2A>G Single submitter hypertrophic cardiomyopathy
c.(?_26 Single submitter hypertrophic cardiomyopathy
c.2602+1G>A Single submitter hypertrophic cardiomyopathy 4
c.2603-1G>A Single submitter hypertrophic cardiomyopathy
c.2603-1G>T Single submitter hypertrophic cardiomyopathy
c.2731_2737+19del Single submitter hypertrophic cardiomyopathy
c.2738-1G>A Single submitter
c.2738-2A>T Single submitter hypertrophic cardiomyopathy 4
c.2855_3518del Single submitter cardiomyopathy
c.2906_2994del Single submitter cardiomyopathy
c.2906-1G>A Single submitter hypertrophic cardiomyopathy
c.2906-1G>C Single submitter
c.292+1del Single submitter hypertrophic cardiomyopathy
c.293-174_307del Single submitter hypertrophic cardiomyopathy
c.2956_3519del Single submitter cardiomyopathy
c.2995-2_2995-1del Single submitter cardiomyopathy
c.2995-58_3151delinsTACCAGGCC Single submitter hypertrophic cardiomyopathy
c.3190+1G>T Single submitter hypertrophic cardiomyopathy
c.3190+5G>C Single submitter Cardiovascular phenotype
c.3191-11_3193del Single submitter hypertrophic cardiomyopathy
c.3191-1G>A Single submitter hypertrophic cardiomyopathy
c.3191-1G>C Single submitter hypertrophic cardiomyopathy
c.3191-2A>G Single submitter hypertrophic cardiomyopathy 4
c.3331-26T>G Single submitter hypertrophic cardiomyopathy
c.3482_3490+3delinsTCATTCTT Single submitter Cardiovascular phenotype
c.3491-2A>C Single submitter Cardiovascular phenotype
c.3815-2A>G Single submitter hypertrophic cardiomyopathy
c.406+21_408del Single submitter hypertrophic cardiomyopathy
c.505+1del Single submitter MYBPC3-related disorder
c.505+1G>T Single submitter hypertrophic cardiomyopathy
c.505+5G>T Single submitter Cardiovascular phenotype
c.773-1G>A Single submitter hypertrophic cardiomyopathy
c.773-2A>T Single submitter hypertrophic cardiomyopathy
c.773-7_773dup Single submitter cardiomyopathy
c.821+2dup Single submitter Cardiovascular phenotype
c.821+5G>T Single submitter hypertrophic cardiomyopathy
c.822-1G>T Single submitter
c.851+1G>A Single submitter
c.852-2A>C Single submitter hypertrophic cardiomyopathy
c.906-22G>A Single submitter MYBPC3-related disorder
c.926+2T>C Single submitter hypertrophic cardiomyopathy
c.927-3C>A Single submitter hypertrophic cardiomyopathy 4
c.933_1090+396del Single submitter hypertrophic cardiomyopathy
p.Ala1262_Glu1265del Single submitter hypertrophic cardiomyopathy 4
p.Ala216fs Single submitter MYBPC3-related disorder
p.Ala315fs Single submitter
p.Ala36fs Single submitter Cardiovascular phenotype
p.Ala429fs Single submitter
p.Ala433fs Single submitter Cardiovascular phenotype
p.Ala562_Cys566delinsProCysSerProArgProSerTyrCysGlyCysSerThrArgAlaProLeuProThrProGlyCysThrCysArgSerSerGlySerProGlyHisSerTer Single submitter hypertrophic cardiomyopathy
p.Ala609Val Single submitter ⚠
p.Ala695fs Single submitter hypertrophic cardiomyopathy 4
p.Arg1138fs Single submitter cardiomyopathy
p.Arg1263fs Single submitter Cardiovascular phenotype
p.Arg272fs Single submitter familial hypertrophic cardiomyopathy
p.Arg326fs Single submitter MYBPC3-related disorder
p.Arg41fs Single submitter left ventricular noncompaction 10
p.Arg817fs Single submitter hypertrophic cardiomyopathy 4
p.Asn1051fs Single submitter MYBPC3-related disorder
p.Asp1149fs Single submitter hypertrophic cardiomyopathy 4
p.Asp1247Gly Single submitter
p.Asp198fs Single submitter hypertrophic cardiomyopathy 4
p.Asp344fs Single submitter
p.Asp637Ter Single submitter hypertrophic cardiomyopathy 4
p.Asp770His Single submitter hypertrophic cardiomyopathy
p.Cys1244fs Single submitter
p.Cys443Ter Single submitter hypertrophic cardiomyopathy 4
p.Cys788fs Single submitter hypertrophic cardiomyopathy 4
p.Gln1090fs Single submitter cardiomyopathy
p.Gln1233fs Single submitter MYBPC3-related disorder
p.Gln1259fs Single submitter Cardiovascular phenotype
p.Gln469fs Single submitter MYBPC3-related disorder
p.Gln684Ter Single submitter hypertrophic cardiomyopathy
p.Gln981Ter Single submitter
p.Glu1053fs Single submitter hypertrophic cardiomyopathy 4
p.Glu1053Ter Single submitter MYBPC3-related disorder
p.Glu1096_Thr1101del Single submitter MYBPC3-related disorder
p.Glu1223fs Single submitter MYBPC3-related disorder
p.Glu1261Ter Single submitter
p.Glu32fs Single submitter cardiomyopathy
p.Glu34fs Single submitter Cardiovascular phenotype
p.Glu542fs Single submitter
p.Glu542Lys Single submitter ⚠
p.Glu70Ter Single submitter
p.Glu722fs Single submitter Cardiovascular phenotype
p.Glu809Ter Single submitter hypertrophic cardiomyopathy 4
p.Glu879Ter Single submitter
p.Glu989Ter Single submitter hypertrophic cardiomyopathy
p.Gly115fs Single submitter hypertrophic cardiomyopathy
p.Gly1260Val Single submitter
p.Gly280fs Single submitter long QT syndrome
p.Gly37Ter Single submitter hypertrophic cardiomyopathy 4
p.Gly45Ter Single submitter Cardiovascular phenotype
p.Gly747fs Single submitter hypertrophic cardiomyopathy 4
p.His1039fs Single submitter cardiomyopathy
p.His1118fs Single submitter MYBPC3-related disorder
p.His1123fs Single submitter hypertrophic cardiomyopathy 4
p.Ile1250fs Single submitter hypertrophic cardiomyopathy 4
p.Ile513fs Single submitter Cardiovascular phenotype
p.Ile636fs Single submitter MYBPC3-related disorder
p.Ile687fs Single submitter Cardiovascular phenotype
p.Ile826fs Single submitter cardiomyopathy
p.Leu1236Ter Single submitter hypertrophic cardiomyopathy 4
p.Leu460Ter Single submitter MYBPC3-related disorder
p.Leu934fs Single submitter Cardiovascular phenotype
p.Lys202fs Single submitter cardiomyopathy
p.Lys218delinsAsnTrpTer Single submitter
p.Lys368Ter Single submitter hypertrophic cardiomyopathy 4
p.Lys39Ter Single submitter hypertrophic cardiomyopathy 4
p.Lys418fs Single submitter MYBPC3-related disorder
p.Lys932Ter Single submitter hypertrophic cardiomyopathy 4
p.Lys986fs Single submitter MYBPC3-related disorder
p.Met103fs Single submitter hypertrophic cardiomyopathy 4
p.Met466fs Single submitter hypertrophic cardiomyopathy 4
p.Met865fs Single submitter hypertrophic cardiomyopathy 4
p.Phe1137fs Single submitter MYBPC3-related disorder
p.Phe252fs Single submitter hypertrophic cardiomyopathy 4
p.Phe90Leu Single submitter ⚠
p.Pro1089fs Single submitter cardiomyopathy
p.Pro161Arg Single submitter hypertrophic cardiomyopathy 4
p.Pro187fs Single submitter hypertrophic cardiomyopathy 4
p.Pro618fs Single submitter cardiomyopathy
p.Pro971fs Single submitter
p.Ser1207fs Single submitter cardiomyopathy
p.Ser47_Asp48insTer Single submitter hypertrophic cardiomyopathy
p.Ser47fs Single submitter hypertrophic cardiomyopathy
p.Ser626Ter Single submitter hypertrophic cardiomyopathy 1
p.Ser78fs Single submitter hypertrophic cardiomyopathy 4
p.Ser830_His831insTer Single submitter MYBPC3-related disorder
p.Thr1237fs Single submitter left ventricular noncompaction 10
p.Thr765fs Single submitter cardiomyopathy
p.Thr958fs Single submitter cardiomyopathy
p.Trp1007fs Single submitter MYBPC3-related disorder
p.Trp191Arg Single submitter
p.Tyr1196Ter Single submitter MYBPC3-related disorder
p.Tyr237Cys Single submitter Cardiovascular phenotype
p.Tyr548Ter Single submitter hypertrophic cardiomyopathy 4
p.Tyr749fs Single submitter cardiomyopathy
p.Tyr79Asn Single submitter
p.Tyr904_Gly912del Single submitter left ventricular noncompaction 10
p.Val1062fs Single submitter hypertrophic cardiomyopathy 4
p.Val1204Ala Single submitter
p.Val465fs Single submitter hypertrophic cardiomyopathy
p.Val563fs Single submitter
p.Val585fs Single submitter hypertrophic cardiomyopathy 4
p.Val725fs Single submitter MYBPC3-related disorder
p.Val81fs Single submitter cardiomyopathy
c.2068-1G>A No assertion criteria cardiomyopathy
c.2308+227G>A No assertion criteria hypertrophic cardiomyopathy 4
c.2905+1G>T No assertion criteria cardiomyopathy
c.3190+2_3190+3del No assertion criteria MYBPC3-related disorder
c.505+1dup No assertion criteria hypertrophic cardiomyopathy 4
c.505+2T>A No assertion criteria hypertrophic cardiomyopathy
p.Gly115Ter No assertion criteria hypertrophic cardiomyopathy
p.Lys361fs No assertion criteria hypertrophic cardiomyopathy 4
p.Ser427Ter No assertion criteria hypertrophic cardiomyopathy 4

Conflicting classifications of pathogenicity 389

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

c.1091-7T>C Single submitter cardiomyopathy
c.1091-8G>A Single submitter cardiomyopathy
c.1224-33G>A Single submitter hypertrophic cardiomyopathy 4
c.1226+6T>C Single submitter Cardiovascular phenotype
c.1227-10C>T Single submitter cardiomyopathy
c.1227-5C>A Single submitter hypertrophic cardiomyopathy
c.1227-6A>G Single submitter cardiomyopathy
c.1227-9C>A Single submitter hypertrophic cardiomyopathy 4
c.1457+20_1457+21delinsTT Single submitter hypertrophic cardiomyopathy
c.1457+5G>T Single submitter Cardiovascular phenotype
c.1458-6G>A Single submitter hypertrophic cardiomyopathy 4
c.1458-7C>A Single submitter MYBPC3-related disorder
c.1624+13G>C Single submitter left ventricular noncompaction 10
c.1625-7C>A Single submitter hypertrophic cardiomyopathy
c.1625-8C>A Single submitter
c.1791-13T>A Single submitter cardiomyopathy
c.1898-1G>T Single submitter hypertrophic cardiomyopathy 4 ⚠
c.1898-4G>T Single submitter cardiomyopathy
c.1927+1G>A Single submitter Cardiovascular phenotype ⚠
c.2148+3G>A Single submitter Cardiovascular phenotype
c.2148+6_2148+9del Single submitter Cardiovascular phenotype
c.2149-3C>G Single submitter hypertrophic cardiomyopathy 4
c.2149-4C>T Single submitter cardiomyopathy
c.2149-5C>A Single submitter hypertrophic cardiomyopathy
c.2149-6C>G Single submitter hypertrophic cardiomyopathy
c.2149-80G>A Single submitter hypertrophic cardiomyopathy
c.2149-8C>G Single submitter cardiomyopathy
c.2149-9C>A Single submitter cardiomyopathy
c.2149-9C>T Single submitter cardiomyopathy
c.2308+5G>A Single submitter hypertrophic cardiomyopathy
c.2308+9G>A Single submitter cardiomyopathy
c.2309-1G>A Single submitter hypertrophic cardiomyopathy 4 ⚠
c.2309-4C>T Single submitter hypertrophic cardiomyopathy
c.25+10G>A Single submitter hypertrophic cardiomyopathy
c.2603-5C>T Single submitter hypertrophic cardiomyopathy
c.2737+4_2737+7del Single submitter Cardiovascular phenotype
c.2738-7C>A Single submitter cardiomyopathy
c.2905+5G>T Single submitter cardiomyopathy
c.2906-3C>T Single submitter Cardiovascular phenotype
c.292+1G>A Single submitter cardiomyopathy ⚠
c.293-1G>C Single submitter hypertrophic cardiomyopathy ⚠
c.2995-5C>G Single submitter cardiomyopathy
c.2995-7C>G Single submitter cardiomyopathy
c.2995-9T>A Single submitter hypertrophic cardiomyopathy
c.3190+4C>T Single submitter Cardiovascular phenotype
c.3191-5C>T Single submitter cardiomyopathy
c.3490+3G>A Single submitter cardiomyopathy
c.3490+6G>A Single submitter cardiomyopathy
c.3491-14C>A Single submitter hypertrophic cardiomyopathy
c.3627+2T>C Single submitter Cardiovascular phenotype ⚠
c.3628-17_3628-14del Single submitter cardiomyopathy
c.3628-18_3628-14del Single submitter hypertrophic cardiomyopathy
c.3814+1G>A Single submitter cardiomyopathy ⚠
c.3815-10T>G Single submitter cardiomyopathy
c.3815-11_3815-9del Single submitter cardiomyopathy
c.3815-12C>G Single submitter hypertrophic cardiomyopathy
c.3815-12C>T Single submitter hypertrophic cardiomyopathy 4
c.505+1_505+4delinsCT Single submitter cardiomyopathy ⚠
c.505+1G>A Single submitter Cardiovascular phenotype ⚠
c.505+5G>A Single submitter Cardiovascular phenotype
c.505+9G>A Single submitter hypertrophic cardiomyopathy
c.654+1G>A Single submitter hypertrophic cardiomyopathy 4 ⚠
c.654+2T>C Single submitter hypertrophic cardiomyopathy ⚠
c.654+5G>A Single submitter Cardiovascular phenotype
c.772+10C>T Single submitter left ventricular noncompaction 10
c.772+4A>T Single submitter hypertrophic cardiomyopathy 4
c.773-4C>A Single submitter Cardiovascular phenotype
c.840_851+5del Single submitter cardiomyopathy
c.851+2T>C Single submitter Cardiovascular phenotype ⚠
c.851+5C>T Single submitter cardiomyopathy
c.852-10C>G Single submitter cardiomyopathy
c.852-14G>T Single submitter hypertrophic cardiomyopathy
c.852-1G>T Single submitter Cardiovascular phenotype ⚠
c.905+1G>A Single submitter hypertrophic cardiomyopathy ⚠
c.905+1G>T Single submitter hypertrophic cardiomyopathy 4 ⚠
c.906-20CTG[5] Single submitter cardiomyopathy
c.906-7G>T Single submitter cardiomyopathy
c.926+1G>A Single submitter cardiomyopathy ⚠
c.926+8C>T Single submitter left ventricular noncompaction 10
c.927-20G>A Single submitter hypertrophic cardiomyopathy
c.-5T>C Single submitter Cardiovascular phenotype
c.*131T>C Single submitter left ventricular noncompaction 10
p.Ala1034= Single submitter Cardiovascular phenotype
p.Ala1077Ser Single submitter cardiomyopathy ⚠
p.Ala1077Thr Single submitter cardiomyopathy ⚠
p.Ala111Val Single submitter Cardiovascular phenotype ⚠
p.Ala1194Val Single submitter Cardiovascular phenotype
p.Ala122Thr Single submitter cardiomyopathy ⚠
p.Ala1255Thr Single submitter MYBPC3-related disorder ⚠
p.Ala125Ser Single submitter cardiomyopathy ⚠
p.Ala125Thr Single submitter cardiomyopathy ⚠
p.Ala140Pro Single submitter Cardiovascular phenotype ⚠
p.Ala149Asp Single submitter Cardiovascular phenotype ⚠
p.Ala149Val Single submitter Cardiovascular phenotype ⚠
p.Ala181Thr Single submitter cardiomyopathy ⚠
p.Ala216= Single submitter cardiomyopathy
p.Ala216Thr Single submitter left ventricular noncompaction 10 ⚠
p.Ala23Pro Single submitter cardiomyopathy ⚠
p.Ala23Thr Single submitter Cardiovascular phenotype ⚠
p.Ala317Val Single submitter Cardiovascular phenotype ⚠
p.Ala364Val Single submitter cardiomyopathy ⚠
p.Ala429= Single submitter cardiomyopathy
p.Ala429Val Single submitter Cardiovascular phenotype ⚠
p.Ala517Ser Single submitter Cardiovascular phenotype ⚠
p.Ala51Ser Single submitter Cardiovascular phenotype ⚠
p.Ala51Thr Single submitter Cardiovascular phenotype ⚠
p.Ala522Val Single submitter Cardiovascular phenotype
p.Ala552Ser Single submitter Cardiovascular phenotype ⚠
p.Ala562Glu Single submitter hypertrophic cardiomyopathy ⚠
p.Ala562Val Single submitter cardiomyopathy
p.Ala609= Single submitter cardiomyopathy
p.Ala678= Single submitter Cardiovascular phenotype
p.Ala693Ser Single submitter hypertrophic cardiomyopathy 4
p.Ala833Thr Single submitter Cardiovascular phenotype ⚠
p.Ala848Glu Single submitter hypertrophic cardiomyopathy 4 ⚠
p.Ala851Val Single submitter Cardiovascular phenotype ⚠
p.Ala97Val Single submitter MYBPC3-related disorder ⚠
p.Arg1002Gln Single submitter left ventricular noncompaction 10
p.Arg1022Cys Single submitter MYBPC3-related disorder
p.Arg1022Pro Single submitter Cardiovascular phenotype ⚠
p.Arg1033= Single submitter Cardiovascular phenotype
p.Arg1036His Single submitter Cardiovascular phenotype ⚠
p.Arg1121His Single submitter Cardiovascular phenotype ⚠
p.Arg1138Pro Single submitter MYBPC3-related disorder ⚠
p.Arg1205Trp Single submitter Cardiovascular phenotype
p.Arg1228Cys Single submitter Cardiovascular phenotype
p.Arg1263Trp Single submitter Cardiovascular phenotype ⚠
p.Arg1267Cys Single submitter left ventricular noncompaction 10
p.Arg160Gln Single submitter Cardiovascular phenotype ⚠
p.Arg160Trp Single submitter Cardiovascular phenotype
p.Arg177= Single submitter Cardiovascular phenotype
p.Arg177Cys Single submitter Cardiovascular phenotype
p.Arg177Pro Single submitter hypertrophic cardiomyopathy ⚠
p.Arg17Gln Single submitter Cardiovascular phenotype ⚠
p.Arg215Cys Single submitter Cardiovascular phenotype ⚠
p.Arg238His Single submitter Cardiovascular phenotype ⚠
p.Arg281= Single submitter Cardiovascular phenotype
p.Arg281Gln Single submitter Cardiovascular phenotype ⚠
p.Arg302Lys Single submitter cardiomyopathy ⚠
p.Arg306Gln Single submitter Cardiovascular phenotype ⚠
p.Arg306Trp Single submitter cardiomyopathy
p.Arg335Cys Single submitter Cardiovascular phenotype
p.Arg346= Single submitter Cardiovascular phenotype
p.Arg357His Single submitter MYBPC3-related disorder ⚠
p.Arg35Gln Single submitter Cardiovascular phenotype ⚠
p.Arg44= Single submitter left ventricular noncompaction 10
p.Arg470Gln Single submitter Cardiovascular phenotype
p.Arg470Trp Single submitter hypertrophic cardiomyopathy 4 ⚠
p.Arg495Leu Single submitter cardiomyopathy
p.Arg502Gly Single submitter Cardiovascular phenotype ⚠
p.Arg502Leu Single submitter hypertrophic cardiomyopathy
p.Arg574= Single submitter Cardiovascular phenotype
p.Arg574Gln Single submitter Cardiovascular phenotype ⚠
p.Arg597= Single submitter hypertrophic cardiomyopathy
p.Arg597Trp Single submitter Cardiovascular phenotype
p.Arg63Gln Single submitter Cardiovascular phenotype ⚠
p.Arg654His Single submitter hypertrophic cardiomyopathy 4 ⚠
p.Arg668His Single submitter Cardiovascular phenotype ⚠
p.Arg69Gln Single submitter Cardiovascular phenotype ⚠
p.Arg726Cys Single submitter hypertrophic cardiomyopathy 4 ⚠
p.Arg726His Single submitter cardiomyopathy ⚠
p.Arg810His Single submitter MYBPC3-related disorder
p.Arg810Leu Single submitter Cardiovascular phenotype ⚠
p.Arg817Gln Single submitter Cardiovascular phenotype
p.Arg817Gly Single submitter cardiomyopathy
p.Arg817Pro Single submitter Cardiovascular phenotype
p.Arg817Trp Single submitter left ventricular noncompaction 10
p.Arg820Pro Single submitter hypertrophic cardiomyopathy 4
p.Arg820Trp Single submitter MYBPC3-related disorder ⚠
p.Arg835Leu Single submitter Cardiovascular phenotype
p.Arg845His Single submitter Cardiovascular phenotype
p.Arg845Ser Single submitter MYBPC3-related disorder ⚠
p.Arg980Cys Single submitter Cardiovascular phenotype
p.Asn1171Ser Single submitter cardiomyopathy ⚠
p.Asn1257Lys Single submitter Cardiovascular phenotype
p.Asn143Ser Single submitter Cardiovascular phenotype ⚠
p.Asn515Ser Single submitter Cardiovascular phenotype ⚠
p.Asn763= Single submitter cardiomyopathy
p.Asn782= Single submitter Cardiovascular phenotype
p.Asp1054Asn Single submitter hypertrophic cardiomyopathy
p.Asp1247= Single submitter Cardiovascular phenotype
p.Asp151Asn Single submitter hypertrophic cardiomyopathy 4 ⚠
p.Asp228Glu Single submitter hypertrophic cardiomyopathy 4 ⚠
p.Asp587Asn Single submitter Cardiovascular phenotype ⚠
p.Asp605Asn Single submitter Cardiovascular phenotype ⚠
p.Asp605Gly Single submitter Cardiovascular phenotype
p.Asp610Asn Single submitter Cardiovascular phenotype ⚠
p.Asp610His Single submitter Cardiovascular phenotype ⚠
p.Cys1202Tyr Single submitter MYBPC3-related disorder ⚠
p.Cys1264Phe Single submitter Cardiovascular phenotype ⚠
p.Cys475Arg Single submitter hypertrophic cardiomyopathy ⚠
p.Cys566Arg Single submitter Cardiovascular phenotype ⚠
p.Gln208His Single submitter hypertrophic cardiomyopathy 4 ⚠
p.Gln339= Single submitter cardiomyopathy
p.Gln435= Single submitter hypertrophic cardiomyopathy
p.Gln981Pro Single submitter cardiomyopathy
p.Gln998= Single submitter hypertrophic cardiomyopathy
p.Gln998Pro Single submitter hypertrophic cardiomyopathy ⚠
p.Glu1050Lys Single submitter cardiomyopathy
p.Glu1128Asp Single submitter Cardiovascular phenotype
p.Glu1179Lys Single submitter Cardiovascular phenotype
p.Glu119Lys Single submitter long QT syndrome ⚠
p.Glu1223Gly Single submitter Cardiovascular phenotype ⚠
p.Glu165Asp Single submitter Cardiovascular phenotype ⚠
p.Glu223Lys Single submitter Cardiovascular phenotype ⚠
p.Glu258= Single submitter hypertrophic cardiomyopathy
p.Glu258Gln Single submitter MYBPC3-related disorder ⚠
p.Glu319Ala Single submitter Cardiovascular phenotype
p.Glu319Val Single submitter cardiomyopathy ⚠
p.Glu32Lys Single submitter Cardiovascular phenotype
p.Glu334Lys Single submitter Cardiovascular phenotype ⚠
p.Glu441Lys Single submitter Cardiovascular phenotype
p.Glu546= Single submitter cardiomyopathy
p.Glu611Lys Single submitter Cardiovascular phenotype
p.Glu633= Single submitter hypertrophic cardiomyopathy 4
p.Glu70Asp Single submitter cardiomyopathy ⚠
p.Glu739= Single submitter Cardiovascular phenotype
p.Glu838Ter Single submitter hypertrophic cardiomyopathy 4 ⚠
p.Glu843_Arg845del Single submitter MYBPC3-related disorder
p.Gly1093= Single submitter Cardiovascular phenotype
p.Gly1099= Single submitter hypertrophic cardiomyopathy
p.Gly1146= Single submitter cardiomyopathy
p.Gly1195Val Single submitter Cardiovascular phenotype ⚠
p.Gly1206Asp Single submitter Cardiovascular phenotype ⚠
p.Gly1248Arg Single submitter Cardiovascular phenotype
p.Gly1249_Cys1253del Single submitter cardiomyopathy
p.Gly1249Val Single submitter MYBPC3-related disorder ⚠
p.Gly1260= Single submitter Cardiovascular phenotype
p.Gly136= Single submitter cardiomyopathy
p.Gly148Arg Single submitter MYBPC3-related disorder ⚠
p.Gly263Arg Single submitter Cardiovascular phenotype ⚠
p.Gly279Ala Single submitter Cardiovascular phenotype ⚠
p.Gly341Ser Single submitter left ventricular noncompaction 10 ⚠
p.Gly347Ser Single submitter Cardiovascular phenotype
p.Gly416Ser Single submitter Cardiovascular phenotype
p.Gly490Arg Single submitter hypertrophic cardiomyopathy 4 ⚠
p.Gly531Arg Single submitter Cardiovascular phenotype ⚠
p.Gly531Trp Single submitter hypertrophic cardiomyopathy 4
p.Gly557= Single submitter Cardiovascular phenotype
p.Gly56Ser Single submitter cardiomyopathy ⚠
p.Gly596Arg Single submitter Cardiovascular phenotype ⚠
p.Gly706Ser Single submitter hypertrophic cardiomyopathy ⚠
p.Gly758= Single submitter Cardiovascular phenotype
p.Gly758Asp Single submitter MYBPC3-related disorder ⚠
p.Gly77Glu Single submitter hypertrophic cardiomyopathy ⚠
p.Gly805Asp Single submitter Cardiovascular phenotype ⚠
p.Gly853Cys Single submitter MYBPC3-related disorder ⚠
p.Gly868Ser Single submitter Cardiovascular phenotype ⚠
p.Gly988Arg Single submitter Cardiovascular phenotype
p.His257= Single submitter Cardiovascular phenotype
p.Ile1029Asn Single submitter Cardiovascular phenotype
p.Ile1131Thr Single submitter Cardiovascular phenotype ⚠
p.Ile1250Met Single submitter cardiomyopathy ⚠
p.Ile154Thr Single submitter Cardiovascular phenotype ⚠
p.Ile336= Single submitter Cardiovascular phenotype
p.Ile415Leu Single submitter hypertrophic cardiomyopathy ⚠
p.Ile415Val Single submitter Cardiovascular phenotype ⚠
p.Ile655Thr Single submitter hypertrophic cardiomyopathy
p.Ile780Val Single submitter Cardiovascular phenotype ⚠
p.Ile82= Single submitter Cardiovascular phenotype
p.Ile852Val Single submitter Cardiovascular phenotype ⚠
p.Ile95Thr Single submitter cardiomyopathy ⚠
p.Ile967= Single submitter left ventricular noncompaction 10
p.Leu1116Val Single submitter hypertrophic cardiomyopathy ⚠
p.Leu1200Pro Single submitter Cardiovascular phenotype ⚠
p.Leu1221= Single submitter hypertrophic cardiomyopathy
p.Leu127Arg Single submitter cardiomyopathy ⚠
p.Leu267Val Single submitter cardiomyopathy ⚠
p.Leu383Val Single submitter Cardiovascular phenotype ⚠
p.Leu455Val Single submitter cardiomyopathy ⚠
p.Leu545Met Single submitter Cardiovascular phenotype ⚠
p.Leu934= Single submitter Cardiovascular phenotype
p.Leu968= Single submitter Cardiovascular phenotype
p.Leu994Phe Single submitter Cardiovascular phenotype
p.Lys1209= Single submitter hypertrophic cardiomyopathy
p.Lys360Asn Single submitter Cardiovascular phenotype
p.Lys779Arg Single submitter Cardiovascular phenotype ⚠
p.Lys811Arg Single submitter hypertrophic cardiomyopathy
p.Lys814del Single submitter Cardiovascular phenotype
p.Met1052Val Single submitter Cardiovascular phenotype ⚠
p.Met1199Val Single submitter hypertrophic cardiomyopathy ⚠
p.Met1Ile Single submitter cardiomyopathy ⚠
p.Met1Leu Single submitter left ventricular noncompaction 10 ⚠
p.Met405Val Single submitter Cardiovascular phenotype ⚠
p.Met518Ile Single submitter cardiomyopathy
p.Met518Thr Single submitter hypertrophic cardiomyopathy ⚠
p.Met555Thr Single submitter Cardiovascular phenotype
p.Phe823= Single submitter hypertrophic cardiomyopathy
p.Pro102Leu Single submitter Cardiovascular phenotype ⚠
p.Pro1127Ser Single submitter hypertrophic cardiomyopathy
p.Pro121Leu Single submitter Cardiovascular phenotype ⚠
p.Pro132Ser Single submitter Cardiovascular phenotype ⚠
p.Pro161Ser Single submitter Cardiovascular phenotype ⚠
p.Pro161Thr Single submitter MYBPC3-related disorder ⚠
p.Pro186Leu Single submitter Left ventricular noncompaction cardiomyopathy ⚠
p.Pro26Ser Single submitter Cardiovascular phenotype ⚠
p.Pro371= Single submitter left ventricular noncompaction 10
p.Pro371Thr Single submitter hypertrophic cardiomyopathy 4
p.Pro453Ser Single submitter hypertrophic cardiomyopathy 4 ⚠
p.Pro459Ser Single submitter Cardiovascular phenotype ⚠

Benign 67

p.Gly5Arg Expert panel hypertrophic cardiomyopathy
c.1091-101T>C Multiple submitters
c.1091-24C>T Multiple submitters left ventricular noncompaction 10
c.1091-31G>A Multiple submitters
c.1091-48A>G Multiple submitters
c.1223+29G>A Multiple submitters left ventricular noncompaction 10
c.1224-61_1224-53dup Multiple submitters cardiomyopathy
c.1226+49T>C Multiple submitters
c.1927+123T>C Multiple submitters
c.1927+89C>G Multiple submitters
c.2067+118A>G Multiple submitters
c.2308+18C>G Multiple submitters hypertrophic cardiomyopathy 4
c.2737+258C>T Multiple submitters
c.292+41G>C Multiple submitters
c.293-211C>G Multiple submitters
c.3191-21A>G Multiple submitters
c.3627+49C>T Multiple submitters
c.3815-66C>T Multiple submitters
c.909-13A>C Multiple submitters
c.*27-44C>A Multiple submitters
p.Glu1096= Multiple submitters Cardiovascular phenotype
p.Thr262= Multiple submitters Cardiovascular phenotype
p.Val158Met Multiple submitters Cardiovascular phenotype ⚠
p.Val849= Multiple submitters left ventricular noncompaction 10
c.1090+29A>G Single submitter
c.1090+387G>A Single submitter
c.1091-734G>A Single submitter
c.1223+14T>G Single submitter
c.1624+19dup Single submitter hypertrophic cardiomyopathy
c.1790+257C>T Single submitter
c.1790+8T>C Single submitter
c.1927+215C>T Single submitter
c.1927+275T>C Single submitter
c.2149-182A>G Single submitter
c.2309-121_2309-120del Single submitter
c.2309-159del Single submitter
c.2309-177dup Single submitter
c.2738-110del Single submitter
c.2738-110T>A Single submitter
c.2738-211G>A Single submitter
c.3330+100T>A Single submitter
c.406+114C>A Single submitter
c.407-180del Single submitter
c.506-10_506-9delinsTT Single submitter
c.506-11= Single submitter
c.654+195C>T Single submitter
c.654+293T>G Single submitter
c.655-19del Single submitter hypertrophic cardiomyopathy
c.655-216A>G Single submitter
c.772+255T>C Single submitter
c.772+9del Single submitter hypertrophic cardiomyopathy
c.909-14del Single submitter hypertrophic cardiomyopathy
c.909-19A>C Single submitter
c.927-118C>G Single submitter
c.927-119C>T Single submitter
c.927-24C>T Single submitter
c.929insG Single submitter cardiomyopathy
c.-391C>T Single submitter
c.-50dup Single submitter
c.*230del Single submitter
c.*26+14G>A Single submitter
c.*294T>A Single submitter
c.*314A>G Single submitter
c.*47C>T Single submitter
p.Pro330= Single submitter
p.Pro893= Single submitter
c.2148+21G>A No assertion criteria

Benign/Likely benign 89

c.1457+20G>T Multiple submitters
c.1458-17C>T Multiple submitters hypertrophic cardiomyopathy 4
c.1624+13G>A Multiple submitters hypertrophic cardiomyopathy 4
c.1624+14_1624+15insA Multiple submitters hypertrophic cardiomyopathy
c.1624+19del Multiple submitters hypertrophic cardiomyopathy
c.1625-29G>A Multiple submitters hypertrophic cardiomyopathy
c.1790+7G>A Multiple submitters left ventricular noncompaction 10
c.2149-3del Multiple submitters hypertrophic cardiomyopathy
c.2149-5C>T Multiple submitters Cardiovascular phenotype
c.2149-9dup Multiple submitters Cardiovascular phenotype
c.2308+12C>T Multiple submitters hypertrophic cardiomyopathy 4
c.2309-27G>A Multiple submitters cardiomyopathy
c.2413+17C>T Multiple submitters hypertrophic cardiomyopathy
c.2737+12C>T Multiple submitters left ventricular noncompaction 10
c.2905+10C>T Multiple submitters hypertrophic cardiomyopathy
c.2905+35A>G Multiple submitters
c.292+11G>C Multiple submitters hypertrophic cardiomyopathy
c.293-6C>T Multiple submitters cardiomyopathy
c.654+11C>T Multiple submitters hypertrophic cardiomyopathy
c.654+12G>A Multiple submitters hypertrophic cardiomyopathy
c.654+18G>A Multiple submitters hypertrophic cardiomyopathy 4
c.655-18G>A Multiple submitters hypertrophic cardiomyopathy 4
c.773-18T>C Multiple submitters hypertrophic cardiomyopathy 4
c.773-20T>C Multiple submitters hypertrophic cardiomyopathy
c.851+11C>T Multiple submitters hypertrophic cardiomyopathy
c.851+17C>A Multiple submitters hypertrophic cardiomyopathy
c.906-20CTG[3] Multiple submitters cardiomyopathy
c.*113G>T Multiple submitters left ventricular noncompaction 10
c.*236G>A Multiple submitters hypertrophic cardiomyopathy 4
c.*26+16C>G Multiple submitters
p.Ala1105= Multiple submitters Cardiovascular phenotype
p.Ala36= Multiple submitters Cardiovascular phenotype
p.Ala522Thr Multiple submitters Cardiovascular phenotype
p.Ala663= Multiple submitters Cardiovascular phenotype
p.Ala833Val Multiple submitters Cardiovascular phenotype
p.Arg1002Trp Multiple submitters Cardiovascular phenotype
p.Arg1036Cys Multiple submitters Cardiovascular phenotype
p.Arg1138His Multiple submitters Cardiovascular phenotype
p.Arg177His Multiple submitters left ventricular noncompaction 10
p.Arg326Gln Multiple submitters hypertrophic cardiomyopathy 4
p.Arg357= Multiple submitters cardiomyopathy
p.Arg382Trp Multiple submitters Cardiovascular phenotype
p.Arg972Trp Multiple submitters Cardiovascular phenotype
p.Asn515= Multiple submitters cardiomyopathy
p.Asp1076= Multiple submitters cardiomyopathy
p.Asp1224= Multiple submitters Cardiovascular phenotype
p.Asp303= Multiple submitters Cardiovascular phenotype
p.Asp489= Multiple submitters Cardiovascular phenotype
p.Asp604= Multiple submitters Cardiovascular phenotype
p.Asp880= Multiple submitters hypertrophic cardiomyopathy 4
p.Cys623= Multiple submitters Cardiovascular phenotype
p.Gln1233= Multiple submitters Cardiovascular phenotype
p.Gln921Glu Multiple submitters Cardiovascular phenotype
p.Gln998Glu Multiple submitters Cardiovascular phenotype
p.Glu872Lys Multiple submitters long QT syndrome
p.Gly164= Multiple submitters left ventricular noncompaction 10
p.Gly278Glu Multiple submitters Cardiovascular phenotype
p.Gly747= Multiple submitters cardiomyopathy
p.Gly868= Multiple submitters hypertrophic cardiomyopathy
p.Gly999= Multiple submitters Cardiovascular phenotype
p.Ile867= Multiple submitters Cardiovascular phenotype
p.Leu428= Multiple submitters Cardiovascular phenotype
p.Leu829= Multiple submitters Cardiovascular phenotype
p.Phe157= Multiple submitters Cardiovascular phenotype
p.Phe222= Multiple submitters Cardiovascular phenotype
p.Phe621= Multiple submitters Cardiovascular phenotype
p.Pro1001= Multiple submitters Cardiovascular phenotype
p.Pro147Leu Multiple submitters Cardiovascular phenotype
p.Pro150= Multiple submitters Cardiovascular phenotype
p.Pro186= Multiple submitters Cardiovascular phenotype
p.Pro4= Multiple submitters Cardiovascular phenotype
p.Ser1178= Multiple submitters cardiomyopathy
p.Ser1191= Multiple submitters hypertrophic cardiomyopathy 4
p.Ser236Gly Multiple submitters Cardiovascular phenotype
p.Ser311= Multiple submitters Cardiovascular phenotype
p.Thr1095= Multiple submitters Cardiovascular phenotype
p.Thr457Met Multiple submitters Cardiovascular phenotype
p.Thr498= Multiple submitters Cardiovascular phenotype
p.Thr721= Multiple submitters Cardiovascular phenotype
p.Tyr213= Multiple submitters Cardiovascular phenotype
p.Tyr434= Multiple submitters cardiomyopathy
p.Tyr749= Multiple submitters Cardiovascular phenotype
p.Val189Ile Multiple submitters Cardiovascular phenotype
p.Val28Met Multiple submitters Cardiovascular phenotype ⚠
p.Val477= Multiple submitters Cardiovascular phenotype
p.Val896Met Multiple submitters hypertrophic cardiomyopathy 4
p.Val987= Multiple submitters Cardiovascular phenotype
c.2737+16C>G No assertion criteria
c.505+39dup No assertion criteria

Likely benign 1036

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

p.Glu619Lys Expert panel hypertrophic cardiomyopathy
c.1091-39C>T Multiple submitters
c.1223+12G>T Multiple submitters hypertrophic cardiomyopathy
c.1224-14C>T Multiple submitters cardiomyopathy
c.1224-34C>T Multiple submitters cardiomyopathy
c.1227-14C>T Multiple submitters cardiomyopathy
c.1227-18C>A Multiple submitters hypertrophic cardiomyopathy
c.1351+19G>A Multiple submitters hypertrophic cardiomyopathy
c.1352-10G>A Multiple submitters hypertrophic cardiomyopathy
c.1352-14C>A Multiple submitters cardiomyopathy
c.1352-5G>A Multiple submitters Cardiovascular phenotype
c.1352-5G>C Multiple submitters cardiomyopathy
c.1457+18G>A Multiple submitters hypertrophic cardiomyopathy
c.1457+20G>A Multiple submitters hypertrophic cardiomyopathy
c.1458-10A>G Multiple submitters hypertrophic cardiomyopathy
c.1458-26C>G Multiple submitters
c.1458-7C>T Multiple submitters cardiomyopathy
c.1624+14G>C Multiple submitters hypertrophic cardiomyopathy
c.1624+15G>C Multiple submitters hypertrophic cardiomyopathy
c.1624+9G>A Multiple submitters hypertrophic cardiomyopathy
c.1625-12C>T Multiple submitters cardiomyopathy
c.1625-14G>T Multiple submitters cardiomyopathy
c.1791-10_1791-8delinsCCT Multiple submitters cardiomyopathy
c.1791-10T>C Multiple submitters hypertrophic cardiomyopathy
c.1791-7C>G Multiple submitters cardiomyopathy
c.1791-9C>A Multiple submitters cardiomyopathy
c.1791-9C>T Multiple submitters hypertrophic cardiomyopathy
c.1897+17G>A Multiple submitters hypertrophic cardiomyopathy
c.1897+25G>A Multiple submitters hypertrophic cardiomyopathy
c.1897+47G>A Multiple submitters
c.1898-15T>C Multiple submitters hypertrophic cardiomyopathy
c.1927+8T>C Multiple submitters hypertrophic cardiomyopathy
c.1928-11G>A Multiple submitters cardiomyopathy
c.1928-4G>C Multiple submitters cardiomyopathy
c.1928-6C>T Multiple submitters hypertrophic cardiomyopathy
c.2068-9dup Multiple submitters hypertrophic cardiomyopathy
c.2149-8C>T Multiple submitters hypertrophic cardiomyopathy
c.2308+117G>A Multiple submitters
c.2413+14C>T Multiple submitters hypertrophic cardiomyopathy
c.25+15G>A Multiple submitters hypertrophic cardiomyopathy
c.26-13C>T Multiple submitters hypertrophic cardiomyopathy
c.26-7C>T Multiple submitters cardiomyopathy
c.2603-11C>T Multiple submitters hypertrophic cardiomyopathy
c.2737+20A>G Multiple submitters hypertrophic cardiomyopathy
c.2738-13del Multiple submitters hypertrophic cardiomyopathy
c.2738-15C>A Multiple submitters cardiomyopathy
c.2738-4C>T Multiple submitters cardiomyopathy
c.2905+19A>G Multiple submitters hypertrophic cardiomyopathy
c.2905+448A>G Multiple submitters cardiomyopathy
c.2906-5C>T Multiple submitters cardiomyopathy
c.2906-7C>T Multiple submitters hypertrophic cardiomyopathy
c.2906-9T>C Multiple submitters hypertrophic cardiomyopathy
c.293-15T>A Multiple submitters cardiomyopathy
c.293-19C>T Multiple submitters hypertrophic cardiomyopathy
c.2995-8C>T Multiple submitters hypertrophic cardiomyopathy
c.3330+11G>A Multiple submitters hypertrophic cardiomyopathy
c.3330+12G>A Multiple submitters hypertrophic cardiomyopathy
c.3330+19G>T Multiple submitters hypertrophic cardiomyopathy
c.3490+17C>T Multiple submitters hypertrophic cardiomyopathy
c.3627+16C>T Multiple submitters hypertrophic cardiomyopathy
c.3627+30G>A Multiple submitters
c.3628-31G>C Multiple submitters hypertrophic cardiomyopathy
c.3628-90G>A Multiple submitters
c.3814+13C>T Multiple submitters hypertrophic cardiomyopathy
c.3814+14G>A Multiple submitters hypertrophic cardiomyopathy
c.3815-14C>T Multiple submitters hypertrophic cardiomyopathy
c.3815-4G>A Multiple submitters hypertrophic cardiomyopathy
c.407-4A>G Multiple submitters cardiomyopathy
c.407-7C>T Multiple submitters cardiomyopathy
c.506-12_506-9delinsTTT Multiple submitters hypertrophic cardiomyopathy
c.506-12C>T Multiple submitters hypertrophic cardiomyopathy
c.506-17C>G Multiple submitters hypertrophic cardiomyopathy
c.506-19G>T Multiple submitters hypertrophic cardiomyopathy
c.506-8del Multiple submitters hypertrophic cardiomyopathy
c.655-10A>G Multiple submitters hypertrophic cardiomyopathy
c.655-11C>T Multiple submitters cardiomyopathy
c.655-15C>A Multiple submitters hypertrophic cardiomyopathy
c.655-19C>T Multiple submitters hypertrophic cardiomyopathy
c.655-54C>G Multiple submitters
c.772+9G>T Multiple submitters hypertrophic cardiomyopathy
c.773-11_773-10dup Multiple submitters cardiomyopathy
c.773-13C>A Multiple submitters cardiomyopathy
c.773-13C>T Multiple submitters hypertrophic cardiomyopathy
c.773-14C>T Multiple submitters cardiomyopathy
c.852-12C>T Multiple submitters hypertrophic cardiomyopathy
c.852-20C>G Multiple submitters hypertrophic cardiomyopathy
c.906-13T>C Multiple submitters cardiomyopathy
c.906-35G>T Multiple submitters cardiomyopathy
c.909-10C>T Multiple submitters cardiomyopathy
c.909-11C>A Multiple submitters cardiomyopathy
c.926+25C>A Multiple submitters
c.926+72C>T Multiple submitters
c.927-46G>C Multiple submitters
p.Ala111= Multiple submitters hypertrophic cardiomyopathy
p.Ala113= Multiple submitters Cardiovascular phenotype
p.Ala1151= Multiple submitters Cardiovascular phenotype
p.Ala116= Multiple submitters hypertrophic cardiomyopathy
p.Ala120= Multiple submitters hypertrophic cardiomyopathy
p.Ala1225= Multiple submitters cardiomyopathy
p.Ala124= Multiple submitters Cardiovascular phenotype
p.Ala131= Multiple submitters hypertrophic cardiomyopathy
p.Ala22= Multiple submitters cardiomyopathy
p.Ala229= Multiple submitters cardiomyopathy
p.Ala23= Multiple submitters cardiomyopathy
p.Ala315= Multiple submitters Cardiovascular phenotype
p.Ala392= Multiple submitters cardiomyopathy
p.Ala482= Multiple submitters hypertrophic cardiomyopathy
p.Ala526= Multiple submitters Cardiovascular phenotype
p.Ala536= Multiple submitters Cardiovascular phenotype
p.Ala562= Multiple submitters cardiomyopathy
p.Ala627= Multiple submitters hypertrophic cardiomyopathy
p.Ala74= Multiple submitters hypertrophic cardiomyopathy
p.Ala776= Multiple submitters Cardiovascular phenotype
p.Ala80= Multiple submitters Cardiovascular phenotype
p.Ala848= Multiple submitters cardiomyopathy
p.Ala877= Multiple submitters hypertrophic cardiomyopathy
p.Arg1037= Multiple submitters hypertrophic cardiomyopathy
p.Arg1121= Multiple submitters Cardiovascular phenotype
p.Arg1138= Multiple submitters Cardiovascular phenotype
p.Arg1241= Multiple submitters cardiomyopathy
p.Arg17= Multiple submitters hypertrophic cardiomyopathy
p.Arg215= Multiple submitters Cardiovascular phenotype
p.Arg282= Multiple submitters hypertrophic cardiomyopathy
p.Arg35= Multiple submitters hypertrophic cardiomyopathy
p.Arg458= Multiple submitters cardiomyopathy
p.Arg495= Multiple submitters Cardiovascular phenotype
p.Arg589= Multiple submitters Cardiovascular phenotype
p.Arg641= Multiple submitters hypertrophic cardiomyopathy
p.Arg726= Multiple submitters Cardiovascular phenotype
p.Arg835= Multiple submitters Cardiovascular phenotype
p.Arg845= Multiple submitters hypertrophic cardiomyopathy
p.Arg856= Multiple submitters cardiomyopathy
p.Arg895= Multiple submitters cardiomyopathy
p.Arg972= Multiple submitters hypertrophic cardiomyopathy
p.Arg977= Multiple submitters cardiomyopathy
p.Arg980= Multiple submitters cardiomyopathy
p.Asn1081= Multiple submitters Cardiovascular phenotype
p.Asn1217= Multiple submitters cardiomyopathy
p.Asn399= Multiple submitters hypertrophic cardiomyopathy
p.Asn572= Multiple submitters Cardiovascular phenotype
p.Asn850= Multiple submitters Cardiovascular phenotype
p.Asp1149= Multiple submitters hypertrophic cardiomyopathy
p.Asp151= Multiple submitters hypertrophic cardiomyopathy
p.Asp163= Multiple submitters cardiomyopathy
p.Asp228= Multiple submitters hypertrophic cardiomyopathy
p.Asp294= Multiple submitters cardiomyopathy
p.Asp320= Multiple submitters Cardiovascular phenotype
p.Asp391= Multiple submitters Cardiovascular phenotype
p.Asp430= Multiple submitters Cardiovascular phenotype
p.Asp431= Multiple submitters hypertrophic cardiomyopathy
p.Asp506= Multiple submitters Cardiovascular phenotype
p.Asp521= Multiple submitters Cardiovascular phenotype
p.Asp553= Multiple submitters cardiomyopathy
p.Asp605= Multiple submitters Cardiovascular phenotype
p.Asp610= Multiple submitters hypertrophic cardiomyopathy 4
p.Asp657= Multiple submitters hypertrophic cardiomyopathy
p.Asp670= Multiple submitters Cardiovascular phenotype
p.Asp700= Multiple submitters cardiomyopathy
p.Asp704= Multiple submitters hypertrophic cardiomyopathy
p.Asp732= Multiple submitters Cardiovascular phenotype
p.Asp770= Multiple submitters Cardiovascular phenotype
p.Asp773= Multiple submitters Cardiovascular phenotype
p.Asp798= Multiple submitters Cardiovascular phenotype
p.Cys1124= Multiple submitters cardiomyopathy
p.Cys1202= Multiple submitters Cardiovascular phenotype
p.Cys249= Multiple submitters hypertrophic cardiomyopathy
p.Cys426= Multiple submitters hypertrophic cardiomyopathy
p.Cys436= Multiple submitters cardiomyopathy
p.Cys651= Multiple submitters Cardiovascular phenotype
p.Cys909= Multiple submitters Cardiovascular phenotype
p.Gln1259= Multiple submitters Cardiovascular phenotype
p.Gln76= Multiple submitters cardiomyopathy
p.Gln965= Multiple submitters cardiomyopathy
p.Glu1156= Multiple submitters Cardiovascular phenotype
p.Glu126= Multiple submitters hypertrophic cardiomyopathy
p.Glu1261= Multiple submitters cardiomyopathy
p.Glu223= Multiple submitters cardiomyopathy
p.Glu318= Multiple submitters cardiomyopathy
p.Glu359= Multiple submitters Cardiovascular phenotype
p.Glu393= Multiple submitters Cardiovascular phenotype
p.Glu446= Multiple submitters hypertrophic cardiomyopathy
p.Glu474= Multiple submitters Cardiovascular phenotype
p.Glu480= Multiple submitters cardiomyopathy
p.Glu516= Multiple submitters cardiomyopathy
p.Glu571= Multiple submitters Cardiovascular phenotype
p.Glu583= Multiple submitters hypertrophic cardiomyopathy
p.Glu60= Multiple submitters hypertrophic cardiomyopathy
p.Glu619= Multiple submitters hypertrophic cardiomyopathy
p.Glu722= Multiple submitters Cardiovascular phenotype
p.Glu759= Multiple submitters Cardiovascular phenotype
p.Glu828= Multiple submitters Cardiovascular phenotype
p.Glu879= Multiple submitters Cardiovascular phenotype
p.Glu911= Multiple submitters cardiomyopathy
p.Glu989= Multiple submitters Cardiovascular phenotype
p.Gly1016= Multiple submitters cardiomyopathy
p.Gly1132= Multiple submitters hypertrophic cardiomyopathy
p.Gly1134= Multiple submitters cardiomyopathy
p.Gly1164= Multiple submitters Cardiovascular phenotype
p.Gly1195= Multiple submitters
p.Gly1218= Multiple submitters Cardiovascular phenotype
p.Gly1249= Multiple submitters hypertrophic cardiomyopathy
p.Gly155= Multiple submitters hypertrophic cardiomyopathy
p.Gly180= Multiple submitters Cardiovascular phenotype
p.Gly194= Multiple submitters Cardiovascular phenotype
p.Gly235= Multiple submitters Cardiovascular phenotype
p.Gly341= Multiple submitters Cardiovascular phenotype
p.Gly354= Multiple submitters cardiomyopathy
p.Gly481= Multiple submitters cardiomyopathy
p.Gly507= Multiple submitters cardiomyopathy
p.Gly581= Multiple submitters Cardiovascular phenotype
p.Gly620= Multiple submitters cardiomyopathy
p.Gly72= Multiple submitters cardiomyopathy
p.Gly740= Multiple submitters Cardiovascular phenotype
p.Gly784= Multiple submitters Cardiovascular phenotype
p.Gly799= Multiple submitters Cardiovascular phenotype
p.Gly839= Multiple submitters Cardiovascular phenotype
p.His210= Multiple submitters cardiomyopathy
p.His225= Multiple submitters Cardiovascular phenotype
p.His648= Multiple submitters Cardiovascular phenotype
p.His926= Multiple submitters cardiomyopathy
p.His978= Multiple submitters Cardiovascular phenotype
p.Ile1029= Multiple submitters Cardiovascular phenotype
p.Ile1193= Multiple submitters hypertrophic cardiomyopathy
p.Ile1240= Multiple submitters cardiomyopathy
p.Ile381= Multiple submitters cardiomyopathy
p.Ile49= Multiple submitters Cardiovascular phenotype
p.Ile551= Multiple submitters hypertrophic cardiomyopathy
p.Ile595= Multiple submitters hypertrophic cardiomyopathy
p.Ile603= Multiple submitters cardiomyopathy
p.Ile647= Multiple submitters cardiomyopathy
p.Ile673= Multiple submitters Cardiovascular phenotype
p.Ile682= Multiple submitters hypertrophic cardiomyopathy
p.Ile687= Multiple submitters Cardiovascular phenotype
p.Ile803= Multiple submitters cardiomyopathy
p.Ile852= Multiple submitters hypertrophic cardiomyopathy
p.Ile995= Multiple submitters cardiomyopathy
p.Leu1219= Multiple submitters Cardiovascular phenotype
p.Leu1236= Multiple submitters cardiomyopathy
p.Leu183= Multiple submitters hypertrophic cardiomyopathy
p.Leu207= Multiple submitters Cardiovascular phenotype
p.Leu224= Multiple submitters cardiomyopathy
p.Leu268= Multiple submitters cardiomyopathy
p.Leu313= Multiple submitters cardiomyopathy
p.Leu349= Multiple submitters cardiomyopathy
p.Leu352= Multiple submitters hypertrophic cardiomyopathy
p.Leu397= Multiple submitters cardiomyopathy
p.Leu455= Multiple submitters hypertrophic cardiomyopathy
p.Leu554= Multiple submitters Cardiovascular phenotype
p.Leu57= Multiple submitters cardiomyopathy
p.Leu601= Multiple submitters cardiomyopathy
p.Leu649= Multiple submitters hypertrophic cardiomyopathy
p.Leu667= Multiple submitters hypertrophic cardiomyopathy
p.Leu718= Multiple submitters hypertrophic cardiomyopathy
p.Leu825= Multiple submitters cardiomyopathy
p.Leu876= Multiple submitters Cardiovascular phenotype
p.Leu901= Multiple submitters hypertrophic cardiomyopathy
p.Leu920= Multiple submitters hypertrophic cardiomyopathy
p.Leu994= Multiple submitters cardiomyopathy
p.Lys1065= Multiple submitters Cardiovascular phenotype
p.Lys1173= Multiple submitters cardiomyopathy
p.Lys15= Multiple submitters Cardiovascular phenotype
p.Lys190= Multiple submitters Cardiovascular phenotype
p.Lys193= Multiple submitters cardiomyopathy
p.Lys202= Multiple submitters cardiomyopathy
p.Lys361= Multiple submitters cardiomyopathy
p.Lys368= Multiple submitters cardiomyopathy
p.Lys543= Multiple submitters hypertrophic cardiomyopathy
p.Lys559= Multiple submitters Cardiovascular phenotype
p.Lys628= Multiple submitters hypertrophic cardiomyopathy
p.Lys754= Multiple submitters cardiomyopathy
p.Phe1113= Multiple submitters hypertrophic cardiomyopathy
p.Phe1140= Multiple submitters hypertrophic cardiomyopathy
p.Phe1147= Multiple submitters cardiomyopathy
p.Phe29= Multiple submitters Cardiovascular phenotype
p.Phe448= Multiple submitters Cardiovascular phenotype
p.Phe631= Multiple submitters hypertrophic cardiomyopathy
p.Phe638= Multiple submitters Cardiovascular phenotype
p.Phe90= Multiple submitters Cardiovascular phenotype
p.Pro1003= Multiple submitters hypertrophic cardiomyopathy
p.Pro1066= Multiple submitters hypertrophic cardiomyopathy
p.Pro108= Multiple submitters Cardiovascular phenotype
p.Pro1088= Multiple submitters hypertrophic cardiomyopathy
p.Pro1089= Multiple submitters cardiomyopathy
p.Pro1127= Multiple submitters hypertrophic cardiomyopathy
p.Pro1157= Multiple submitters cardiomyopathy
p.Pro1181= Multiple submitters cardiomyopathy
p.Pro1186= Multiple submitters Cardiovascular phenotype
p.Pro121= Multiple submitters Cardiovascular phenotype
p.Pro134= Multiple submitters cardiomyopathy
p.Pro161= Multiple submitters cardiomyopathy
p.Pro452= Multiple submitters cardiomyopathy
p.Pro586= Multiple submitters Cardiovascular phenotype
p.Pro618= Multiple submitters cardiomyopathy
p.Pro645= Multiple submitters hypertrophic cardiomyopathy
p.Pro656= Multiple submitters Cardiovascular phenotype
p.Pro694= Multiple submitters cardiomyopathy
p.Pro697= Multiple submitters Cardiovascular phenotype
p.Pro778= Multiple submitters cardiomyopathy
p.Pro794= Multiple submitters hypertrophic cardiomyopathy
p.Pro892= Multiple submitters cardiomyopathy

Uncertain significance 1866

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

c.26-2A>G Expert panel hypertrophic cardiomyopathy
p.Arg1271Ter Expert panel hypertrophic cardiomyopathy
p.Lys135= Expert panel hypertrophic cardiomyopathy
p.Ser858Asn Expert panel hypertrophic cardiomyopathy ⚠
c.1224-1G>A Multiple submitters Cardiovascular phenotype
c.1226+3_1226+6del Multiple submitters hypertrophic cardiomyopathy
c.1227-1_1228dup Multiple submitters hypertrophic cardiomyopathy
c.1227-3del Multiple submitters hypertrophic cardiomyopathy
c.1351+3G>T Multiple submitters hypertrophic cardiomyopathy
c.1624+3G>A Multiple submitters hypertrophic cardiomyopathy
c.1790+5G>A Multiple submitters hypertrophic cardiomyopathy
c.1897+4A>T Multiple submitters
c.1897+5G>A Multiple submitters Cardiovascular phenotype
c.1927+4A>G Multiple submitters hypertrophic cardiomyopathy
c.2148+5G>A Multiple submitters hypertrophic cardiomyopathy
c.2149-3C>A Multiple submitters hypertrophic cardiomyopathy
c.2309-9C>A Multiple submitters cardiomyopathy
c.25+3A>G Multiple submitters Cardiovascular phenotype
c.2737+4_2737+5del Multiple submitters Cardiovascular phenotype
c.2905+4A>G Multiple submitters hypertrophic cardiomyopathy
c.292+3A>G Multiple submitters cardiomyopathy
c.292+5G>T Multiple submitters hypertrophic cardiomyopathy
c.3491-3C>A Multiple submitters Cardiovascular phenotype
c.3628-3T>A Multiple submitters cardiomyopathy
c.3814+1G>C Multiple submitters Cardiovascular phenotype
c.406+5G>C Multiple submitters Cardiovascular phenotype
c.407-10T>G Multiple submitters hypertrophic cardiomyopathy
c.407-7C>A Multiple submitters cardiomyopathy
c.505+4_505+5del Multiple submitters hypertrophic cardiomyopathy
c.505+6T>G Multiple submitters
c.506-3C>T Multiple submitters cardiomyopathy
c.655-9T>G Multiple submitters hypertrophic cardiomyopathy
c.772+5G>A Multiple submitters Cardiovascular phenotype
c.821+3G>A Multiple submitters hypertrophic cardiomyopathy
c.821+3G>C Multiple submitters Cardiovascular phenotype
c.821+6T>C Multiple submitters hypertrophic cardiomyopathy 4
c.851+3_851+8del Multiple submitters hypertrophic cardiomyopathy
c.851+4C>T Multiple submitters hypertrophic cardiomyopathy
c.852-6C>T Multiple submitters cardiomyopathy
c.908+3A>G Multiple submitters cardiomyopathy
c.908+4A>T Multiple submitters hypertrophic cardiomyopathy
c.909-6G>A Multiple submitters cardiomyopathy
c.909-7G>A Multiple submitters hypertrophic cardiomyopathy
c.926+4A>G Multiple submitters hypertrophic cardiomyopathy
c.926+5G>A Multiple submitters hypertrophic cardiomyopathy
c.-10G>A Multiple submitters cardiomyopathy
c.-11C>T Multiple submitters cardiomyopathy
p.106PA[4] Multiple submitters Cardiovascular phenotype
p.Ala1034Thr Multiple submitters cardiomyopathy ⚠
p.Ala1035Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala105Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala1083Thr Multiple submitters hypertrophic cardiomyopathy
p.Ala109Thr Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ala1105Gly Multiple submitters cardiomyopathy
p.Ala1105Val Multiple submitters hypertrophic cardiomyopathy
p.Ala113Asp Multiple submitters Cardiovascular phenotype ⚠
p.Ala113Ser Multiple submitters Cardiovascular phenotype ⚠
p.Ala1151Val Multiple submitters hypertrophic cardiomyopathy 4
p.Ala1194Thr Multiple submitters hypertrophic cardiomyopathy 4
p.Ala1198Val Multiple submitters Cardiovascular phenotype
p.Ala1225Thr Multiple submitters cardiomyopathy ⚠
p.Ala122Asp Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ala1255Asp Multiple submitters Cardiovascular phenotype ⚠
p.Ala1255Gly Multiple submitters Brugada syndrome
p.Ala1262Thr Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ala1262Val Multiple submitters hypertrophic cardiomyopathy 4
p.Ala131Thr Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ala140Val Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ala149Gly Multiple submitters cardiomyopathy ⚠
p.Ala149Thr Multiple submitters cardiomyopathy ⚠
p.Ala259Gly Multiple submitters Cardiovascular phenotype ⚠
p.Ala328Val Multiple submitters cardiomyopathy
p.Ala337Thr Multiple submitters cardiomyopathy
p.Ala337Val Multiple submitters cardiomyopathy
p.Ala364Pro Multiple submitters Cardiovascular phenotype
p.Ala36Glu Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ala36Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala372Thr Multiple submitters cardiomyopathy
p.Ala392Thr Multiple submitters cardiomyopathy ⚠
p.Ala432Pro Multiple submitters Cardiovascular phenotype
p.Ala432Thr Multiple submitters Cardiovascular phenotype
p.Ala433Thr Multiple submitters hypertrophic cardiomyopathy
p.Ala482Val Multiple submitters left ventricular noncompaction 10 ⚠
p.Ala534Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala536Pro Multiple submitters Cardiovascular phenotype
p.Ala552Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala558Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala562Thr Multiple submitters hypertrophic cardiomyopathy 4
p.Ala622Thr Multiple submitters Cardiovascular phenotype
p.Ala627Val Multiple submitters hypertrophic cardiomyopathy
p.Ala678Asp Multiple submitters cardiomyopathy
p.Ala686Pro Multiple submitters cardiomyopathy ⚠
p.Ala693Val Multiple submitters cardiomyopathy ⚠
p.Ala695Thr Multiple submitters cardiomyopathy ⚠
p.Ala741Ser Multiple submitters hypertrophic cardiomyopathy
p.Ala74Thr Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ala774Thr Multiple submitters Cardiovascular phenotype
p.Ala776Thr Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ala776Val Multiple submitters cardiomyopathy ⚠
p.Ala777Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala80Gly Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ala80Ser Multiple submitters cardiomyopathy ⚠
p.Ala80Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala848Gly Multiple submitters hypertrophic cardiomyopathy 4 ⚠
p.Ala848Pro Multiple submitters ⚠
p.Ala848Thr Multiple submitters cardiomyopathy ⚠
p.Ala848Trp Multiple submitters hypertrophic cardiomyopathy
p.Ala848Val Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ala851Thr Multiple submitters cardiomyopathy ⚠
p.Ala877Pro Multiple submitters Cardiovascular phenotype ⚠
p.Ala877Val Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ala898Ser Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ala898Val Multiple submitters cardiomyopathy
p.Ala946Thr Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ala950Glu Multiple submitters cardiomyopathy
p.Ala950Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala954Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala97Ser Multiple submitters cardiomyopathy ⚠
p.Arg1022His Multiple submitters cardiomyopathy
p.Arg1033Gln Multiple submitters Cardiovascular phenotype
p.Arg1033Trp Multiple submitters hypertrophic cardiomyopathy 4
p.Arg1037Cys Multiple submitters Cardiovascular phenotype
p.Arg1037His Multiple submitters Cardiovascular phenotype ⚠
p.Arg1048Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg1048His Multiple submitters Concentric hypertrophic cardiomyopathy
p.Arg1048Ser Multiple submitters Cardiovascular phenotype
p.Arg1073Gln Multiple submitters hypertrophic cardiomyopathy ⚠
p.Arg1073Trp Multiple submitters left ventricular noncompaction 10 ⚠
p.Arg1120Cys Multiple submitters Cardiovascular phenotype
p.Arg1120His Multiple submitters hypertrophic cardiomyopathy ⚠
p.Arg1121Cys Multiple submitters Cardiovascular phenotype
p.Arg1138Cys Multiple submitters cardiomyopathy ⚠
p.Arg1162Ser Multiple submitters Cardiovascular phenotype ⚠
p.Arg1190Cys Multiple submitters Cardiovascular phenotype
p.Arg1190His Multiple submitters Cardiovascular phenotype
p.Arg1205Gln Multiple submitters Cardiovascular phenotype
p.Arg1205Pro Multiple submitters hypertrophic cardiomyopathy ⚠
p.Arg1226Cys Multiple submitters hypertrophic cardiomyopathy 4 ⚠
p.Arg1226His Multiple submitters Cardiovascular phenotype
p.Arg1226Leu Multiple submitters hypertrophic cardiomyopathy
p.Arg1228His Multiple submitters cardiomyopathy
p.Arg1228Pro Multiple submitters Cardiovascular phenotype
p.Arg1254Gly Multiple submitters hypertrophic cardiomyopathy
p.Arg1263Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg1263Pro Multiple submitters Cardiovascular phenotype ⚠
p.Arg1267His Multiple submitters Cardiovascular phenotype ⚠
p.Arg1271Gln Multiple submitters Cardiovascular phenotype
p.Arg1271Pro Multiple submitters Cardiovascular phenotype
p.Arg17Trp Multiple submitters hypertrophic cardiomyopathy
p.Arg215His Multiple submitters cardiomyopathy ⚠
p.Arg238Cys Multiple submitters cardiomyopathy ⚠
p.Arg272Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg272His Multiple submitters Cardiovascular phenotype ⚠
p.Arg273Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg273His Multiple submitters Cardiovascular phenotype ⚠
p.Arg281Gly Multiple submitters hypertrophic cardiomyopathy ⚠
p.Arg281Trp Multiple submitters catecholaminergic polymorphic ventricular tachycardia ⚠
p.Arg282Gln Multiple submitters hypertrophic cardiomyopathy ⚠
p.Arg282Trp Multiple submitters Cardiovascular phenotype ⚠
p.Arg302Thr Multiple submitters cardiomyopathy
p.Arg309Lys Multiple submitters hypertrophic cardiomyopathy ⚠
p.Arg326Trp Multiple submitters cardiomyopathy
p.Arg335His Multiple submitters Cardiovascular phenotype
p.Arg346Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg346His Multiple submitters Cardiovascular phenotype
p.Arg35Trp Multiple submitters Cardiovascular phenotype
p.Arg382Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg419Cys Multiple submitters Cardiovascular phenotype
p.Arg419His Multiple submitters Cardiovascular phenotype ⚠
p.Arg419Ser Multiple submitters cardiomyopathy
p.Arg41Cys Multiple submitters Cardiovascular phenotype
p.Arg41His Multiple submitters Cardiovascular phenotype ⚠
p.Arg41Leu Multiple submitters cardiomyopathy ⚠
p.Arg44Cys Multiple submitters hypertrophic cardiomyopathy ⚠
p.Arg44His Multiple submitters Cardiovascular phenotype ⚠
p.Arg458Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg458His Multiple submitters Cardiovascular phenotype ⚠
p.Arg458Ser Multiple submitters hypertrophic cardiomyopathy 4 ⚠
p.Arg509Thr Multiple submitters Cardiovascular phenotype
p.Arg574Leu Multiple submitters cardiomyopathy ⚠
p.Arg574Trp Multiple submitters Cardiovascular phenotype
p.Arg589Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg589His Multiple submitters Cardiovascular phenotype
p.Arg63Trp Multiple submitters cardiomyopathy ⚠
p.Arg654Cys Multiple submitters hypertrophic cardiomyopathy 4
p.Arg668Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg69Trp Multiple submitters hypertrophic cardiomyopathy ⚠
p.Arg724Gln Multiple submitters cardiomyopathy ⚠
p.Arg724Trp Multiple submitters Cardiovascular phenotype ⚠
p.Arg733Cys Multiple submitters Cardiovascular phenotype
p.Arg733His Multiple submitters Cardiovascular phenotype ⚠
p.Arg733Leu Multiple submitters hypertrophic cardiomyopathy 4
p.Arg810Cys Multiple submitters hypertrophic cardiomyopathy
p.Arg810Gly Multiple submitters Cardiovascular phenotype
p.Arg817Leu Multiple submitters cardiomyopathy
p.Arg834Gln Multiple submitters cardiomyopathy ⚠
p.Arg834Pro Multiple submitters cardiomyopathy
p.Arg834Trp Multiple submitters Cardiovascular phenotype ⚠
p.Arg835Cys Multiple submitters left ventricular noncompaction 10
p.Arg835Gly Multiple submitters hypertrophic cardiomyopathy ⚠
p.Arg845Cys Multiple submitters hypertrophic cardiomyopathy ⚠
p.Arg845Gly Multiple submitters hypertrophic cardiomyopathy ⚠
p.Arg845Pro Multiple submitters cardiomyopathy ⚠
p.Arg856Ser Multiple submitters hypertrophic cardiomyopathy
p.Arg891Gln Multiple submitters Cardiovascular phenotype
p.Arg891Trp Multiple submitters Cardiovascular phenotype
p.Arg895Cys Multiple submitters Cardiovascular phenotype
p.Arg895His Multiple submitters Cardiovascular phenotype ⚠
p.Arg895Leu Multiple submitters Cardiovascular phenotype
p.Arg939Gln Multiple submitters hypertrophic cardiomyopathy ⚠
p.Arg939Pro Multiple submitters hypertrophic cardiomyopathy 4
p.Arg939Trp Multiple submitters Cardiovascular phenotype
p.Arg943Gln Multiple submitters Cardiovascular phenotype
p.Arg945Gln Multiple submitters cardiomyopathy ⚠
p.Arg945Trp Multiple submitters Cardiovascular phenotype
p.Arg970Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg970Trp Multiple submitters Cardiovascular phenotype
p.Arg972Gln Multiple submitters cardiomyopathy ⚠
p.Arg980Gly Multiple submitters Cardiovascular phenotype
p.Arg980His Multiple submitters Cardiovascular phenotype
p.Asn1023Asp Multiple submitters cardiomyopathy
p.Asn1051Ser Multiple submitters hypertrophic cardiomyopathy ⚠
p.Asn1081His Multiple submitters hypertrophic cardiomyopathy
p.Asn251Ile Multiple submitters cardiomyopathy ⚠
p.Asn253Ser Multiple submitters hypertrophic cardiomyopathy ⚠
p.Asn515del Multiple submitters Cardiovascular phenotype
p.Asn572Asp Multiple submitters hypertrophic cardiomyopathy
p.Asn763Ser Multiple submitters hypertrophic cardiomyopathy ⚠
p.Asn782Ser Multiple submitters cardiomyopathy ⚠
p.Asn822Ile Multiple submitters Cardiovascular phenotype
p.Asn850Ile Multiple submitters Cardiovascular phenotype ⚠
p.Asn948Asp Multiple submitters cardiomyopathy ⚠
p.Asn948Thr Multiple submitters cardiomyopathy ⚠
p.Asn992Lys Multiple submitters Cardiovascular phenotype
p.Asp1027Gly Multiple submitters hypertrophic cardiomyopathy
p.Asp1064Glu Multiple submitters cardiomyopathy
p.Asp1071Val Multiple submitters cardiomyopathy ⚠
p.Asp1076Gly Multiple submitters hypertrophic cardiomyopathy
p.Asp1091Val Multiple submitters hypertrophic cardiomyopathy ⚠
p.Asp1106Asn Multiple submitters cardiomyopathy
p.Asp1149Asn Multiple submitters cardiomyopathy
p.Asp1220Asn Multiple submitters cardiomyopathy ⚠
p.Asp1224Asn Multiple submitters hypertrophic cardiomyopathy
p.Asp1247Asn Multiple submitters Cardiovascular phenotype ⚠
p.Asp198Asn Multiple submitters left ventricular noncompaction 10 ⚠
p.Asp198Glu Multiple submitters cardiomyopathy ⚠
p.Asp211Asn Multiple submitters cardiomyopathy ⚠
p.Asp214Asn Multiple submitters Cardiovascular phenotype ⚠
p.Asp214Glu Multiple submitters cardiomyopathy
p.Asp228Asn Multiple submitters Cardiovascular phenotype ⚠
p.Asp228Gly Multiple submitters cardiomyopathy ⚠
p.Asp245Glu Multiple submitters cardiomyopathy ⚠
p.Asp248Asn Multiple submitters ⚠
p.Asp344Gly Multiple submitters hypertrophic cardiomyopathy ⚠
p.Asp358Asn Multiple submitters MYBPC3-related disorder ⚠
p.Asp358Glu Multiple submitters cardiomyopathy ⚠
p.Asp358Tyr Multiple submitters Cardiovascular phenotype
p.Asp389Glu Multiple submitters hypertrophic cardiomyopathy 4 ⚠
p.Asp389Val Multiple submitters cardiomyopathy
p.Asp430Asn Multiple submitters hypertrophic cardiomyopathy ⚠
p.Asp431Asn Multiple submitters cardiomyopathy
p.Asp462Glu Multiple submitters hypertrophic cardiomyopathy 4 ⚠
p.Asp489Glu Multiple submitters hypertrophic cardiomyopathy
p.Asp489Val Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Asp610Glu Multiple submitters Cardiovascular phenotype ⚠
p.Asp610Tyr Multiple submitters cardiomyopathy ⚠
p.Asp610Val Multiple submitters Cardiovascular phenotype ⚠
p.Asp657His Multiple submitters Cardiovascular phenotype
p.Asp676Tyr Multiple submitters Cardiovascular phenotype ⚠
p.Asp709Asn Multiple submitters hypertrophic cardiomyopathy ⚠
p.Asp709Val Multiple submitters cardiomyopathy ⚠
p.Asp745Gly Multiple submitters cardiomyopathy ⚠
p.Asp75Asn Multiple submitters Cardiovascular phenotype ⚠
p.Asp760His Multiple submitters Cardiovascular phenotype
p.Asp770Glu Multiple submitters hypertrophic cardiomyopathy ⚠
p.Asp786Tyr Multiple submitters hypertrophic cardiomyopathy
p.Asp824Asn Multiple submitters cardiomyopathy
p.Asp902Gly Multiple submitters cardiomyopathy
p.Asp91Asn Multiple submitters hypertrophic cardiomyopathy ⚠
p.Cys1124Arg Multiple submitters hypertrophic cardiomyopathy ⚠
p.Cys1124Tyr Multiple submitters hypertrophic cardiomyopathy ⚠
p.Cys1202Ser Multiple submitters hypertrophic cardiomyopathy 4 ⚠
p.Cys1244Tyr Multiple submitters Cardiovascular phenotype
p.Cys1253Ser Multiple submitters hypertrophic cardiomyopathy ⚠
p.Cys1264Arg Multiple submitters cardiomyopathy
p.Cys1264Tyr Multiple submitters Cardiovascular phenotype ⚠
p.Cys1266Arg Multiple submitters Cardiovascular phenotype ⚠
p.Cys1266Trp Multiple submitters Cardiovascular phenotype
p.Cys1266Tyr Multiple submitters Cardiovascular phenotype ⚠
p.Cys239Tyr Multiple submitters Cardiovascular phenotype ⚠
p.Cys249Arg Multiple submitters Cardiovascular phenotype ⚠
p.Cys426Tyr Multiple submitters Cardiovascular phenotype ⚠
p.Cys436Arg Multiple submitters hypertrophic cardiomyopathy ⚠
p.Cys566Ser Multiple submitters MYBPC3-related disorder ⚠
p.Cys719Arg Multiple submitters hypertrophic cardiomyopathy ⚠
p.Cys788Arg Multiple submitters Cardiovascular phenotype
p.Cys913Ser Multiple submitters hypertrophic cardiomyopathy ⚠
p.Gln1061His Multiple submitters hypertrophic cardiomyopathy
p.Gln1070His Multiple submitters hypertrophic cardiomyopathy ⚠
p.Gln1090Arg Multiple submitters Cardiovascular phenotype ⚠