ILK — 517 ClinVar variants

All ClinVar germline ILK variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 236 flagged for review →

14 Conflicting · 11 Benign · 11 Benign/Likely benign · 214 Likely benign · 267 Uncertain significance

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

⚑ Evidence disagreements 236

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

Predictors agree, ClinVar conflicts 10

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

ILK p.Arg211His Conflicting Single submitter
familial hypertrophic cardiomyopathy
ILK p.Asn194Asp Conflicting Single submitter
familial hypertrophic cardiomyopathy
ILK p.Asn22Ser Conflicting Single submitter
cardiomyopathy
ILK p.Asn236Ser Conflicting Single submitter
familial hypertrophic cardiomyopathy
ILK p.Asn321Ser Conflicting Single submitter
familial hypertrophic cardiomyopathy
ILK p.Glu153Gly Conflicting Single submitter
familial hypertrophic cardiomyopathy
ILK p.Gly156Ser Conflicting Single submitter
familial hypertrophic cardiomyopathy
ILK p.Leu53Met Conflicting Single submitter
familial hypertrophic cardiomyopathy
ILK p.Lys223Asn Conflicting Single submitter
familial hypertrophic cardiomyopathy
ILK p.Val280Ile Conflicting Single submitter
familial hypertrophic cardiomyopathy

Predictors lean, ClinVar uncertain 106

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

ILK p.Ala41Val Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ILK p.Arg149Gln Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ILK p.Arg161Cys Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ILK p.Arg161His Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ILK p.Arg323His Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ILK p.Arg334Gln Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ILK p.Arg388Trp Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ILK p.Arg410Gln Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ILK p.Arg436Gln Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ILK p.Asn122Tyr Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ILK p.Gly205Arg Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ILK p.His264Tyr Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ILK p.His99Pro Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ILK p.Ile93Val Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ILK p.Leu125Val Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ILK p.Leu159Val Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ILK p.Leu199Phe Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ILK p.Lys141Arg Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ILK p.Lys341Arg Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ILK p.Met272Arg Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ILK p.Met350Leu Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ILK p.Met55Leu Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ILK p.Pro143Thr Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ILK p.Pro260Ser Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ILK p.Ser204Ala Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ILK p.Ser47Cys Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ILK p.Thr197Met Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ILK p.Trp212Cys Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ILK p.Trp227Arg Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ILK p.Val137Ala Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ILK p.Val219Met Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ILK p.Val288Ile Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ILK p.Val49Ala Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ILK p.Val62Ile Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ILK p.Ala333Gly Uncertain significance Single submitter
ILK p.Ala379Val Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Ala75Pro Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Ala91Thr Uncertain significance Single submitter
ILK p.Arg145Gly Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Arg151Gln Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Arg225Gln Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Arg241Trp Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Arg410Trp Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Arg46His Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Asn12Lys Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Asn160Asp Uncertain significance Single submitter
ILK p.Asn194Thr Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Asn202Ser Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Asn215Ser Uncertain significance Single submitter
ILK p.Asn22Asp Uncertain significance Single submitter
ILK p.Asn279Ser Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Asp216Gly Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Asp367Gly Uncertain significance Single submitter
ILK p.Asp451Glu Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Cys129Ser Uncertain significance Single submitter
ILK p.Gln88His Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Glu146Gln Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Glu359Asp Uncertain significance Single submitter
ILK p.Glu359Lys Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Gly255Cys Uncertain significance Single submitter
ILK p.His264Gln Uncertain significance Single submitter
ILK p.His318Leu Uncertain significance Single submitter
ILK p.His318Tyr Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.His33Pro Uncertain significance Single submitter
ILK p.His79Leu Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Ile188Val Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Ile217Phe Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Ile315Val Uncertain significance Single submitter
ILK p.Ile335Val Uncertain significance Single submitter
ILK p.Ile413Asn Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Ile82Val Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Leu147Phe Uncertain significance Single submitter
ILK p.Leu147Pro Uncertain significance Single submitter
ILK p.Leu193Ile Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Leu196Val Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Leu207Val Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Leu267Val Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Lys363Arg Uncertain significance Single submitter
ILK p.Lys364Gln Uncertain significance Single submitter
ILK p.Met135Ile Uncertain significance Single submitter
ILK p.Met301Leu Uncertain significance Single submitter
ILK p.Met55Thr Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Met55Val Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Pro143Leu Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Pro261Ser Uncertain significance Single submitter
ILK p.Pro265Leu Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Pro316Ser Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Pro365Ala Uncertain significance Single submitter
ILK p.Pro433Ser Uncertain significance Single submitter
ILK p.Ser232Asn Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Ser377Gly Uncertain significance Single submitter
ILK p.Thr229Ala Uncertain significance Single submitter
ILK p.Thr266Ile Uncertain significance Single submitter
ILK p.Thr69Ile Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Thr69Ser Uncertain significance Single submitter
ILK p.Trp227Arg Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Trp227Ser Uncertain significance Single submitter
ILK p.Tyr89Ser Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Val126Ile Uncertain significance Single submitter
ILK p.Val16Phe Uncertain significance Single submitter
ILK p.Val219Glu Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Val253Leu Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Val340Ile Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Val390Gly Uncertain significance Single submitter
ILK p.Val390Ile Uncertain significance Single submitter
ILK p.Ala262Val Uncertain significance No assertion criteria
Variant of unknown significance

Predictors split 120

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

ILK p.Arg174Cys Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ILK p.Arg174His Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ILK p.Arg371Cys Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ILK p.Arg43Gln Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ILK p.Arg46Cys Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ILK p.Arg59Trp Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ILK p.Asn28Ser Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ILK p.Asp32Asn Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ILK p.Gln362His Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ILK p.Glu201Lys Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ILK p.Glu44Gln Uncertain significance Multiple submitters
ILK-related disorder
ILK p.Gly210Ser Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ILK p.Ile217Thr Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ILK p.Leu320Ile Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ILK p.Leu320Val Uncertain significance Multiple submitters
ILK-related disorder
ILK p.Lys184Thr Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ILK p.Lys452Thr Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ILK p.Phe245Tyr Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ILK p.Pro273Gln Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ILK p.Pro419Leu Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ILK p.Pro444His Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ILK p.Thr172Ile Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ILK p.Thr173Ile Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ILK p.Thr181Ile Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ILK p.Thr332Ile Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ILK p.Tyr132Asp Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ILK p.Val253Ala Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ILK p.Val289Met Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ILK p.Val50Ala Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ILK p.Ala124Ser Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Ala256Thr Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Ala294Thr Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Ala434Glu Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Ala58Val Uncertain significance Single submitter
ILK p.Arg176Gln Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Arg211Cys Conflicting Single submitter
familial hypertrophic cardiomyopathy
ILK p.Arg230Gly Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Arg317Gln Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Arg323Cys Uncertain significance Single submitter
ILK p.Arg349Cys Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Arg349His Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Arg349Leu Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Arg388Gln Uncertain significance Single submitter
ILK p.Arg43Gly Uncertain significance Single submitter
ILK p.Arg59Gly Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Arg65Cys Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Arg65His Uncertain significance Single submitter
ILK p.Arg65Leu Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Arg65Ser Uncertain significance Single submitter
ILK p.Asn12Ser Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Asn158Tyr Uncertain significance Single submitter
ILK p.Asn236Ile Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Asn321Asp Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Asp118Asn Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Asp234Asn Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Asp290Ala Uncertain significance Single submitter
ILK p.Asp330Asn Uncertain significance Single submitter
ILK p.Asp339Tyr Uncertain significance Single submitter
ILK p.Asp432Asn Uncertain significance Single submitter
ILK p.Asp67Asn Uncertain significance Single submitter
ILK p.Asp92Asn Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Cys346Tyr Uncertain significance Single submitter
ILK p.Gln213Arg Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Gln293His Uncertain significance Single submitter
ILK p.Glu238Asp Uncertain significance Single submitter
ILK p.Glu238Val Uncertain significance Single submitter
ILK p.Glu51Gln Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Gly133Glu Uncertain significance Single submitter
ILK p.Gly187Val Uncertain significance Single submitter
ILK p.Gly205Glu Conflicting Single submitter
familial hypertrophic cardiomyopathy
ILK p.Gly214Asp Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Gly255Val Uncertain significance Single submitter
ILK p.Gly57Arg Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.His270Arg Uncertain significance Single submitter
ILK p.His420Tyr Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.His77Arg Uncertain significance Single submitter
ILK p.His79Arg Uncertain significance Single submitter
ILK p.Ile315Thr Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Leu320Phe Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Leu385Met Uncertain significance Single submitter
ILK p.Leu406Ser Uncertain significance Single submitter
ILK p.Leu424Val Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Lys165Asn Uncertain significance Single submitter
ILK p.Lys165Glu Uncertain significance Single submitter
ILK p.Lys296Thr Uncertain significance Single submitter
ILK p.Lys363Asn Uncertain significance Single submitter
ILK p.Lys438Thr Uncertain significance Single submitter
ILK p.Met272Ile Uncertain significance Single submitter
ILK p.Met375Ile Uncertain significance Single submitter
ILK p.Met375Leu Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Met402Val Uncertain significance Single submitter
ILK p.Met425Ile Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Met429Val Uncertain significance Single submitter
ILK p.Met441Arg Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Met449Ile Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Met52Val Uncertain significance Single submitter
ILK p.Phe168Cys Conflicting Single submitter
Cardiovascular phenotype
ILK p.Phe168Leu Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Phe190Leu Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Phe344Tyr Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Pro177Ser Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Pro273Arg Likely benign Single submitter
familial hypertrophic cardiomyopathy
ILK p.Pro273Leu Uncertain significance Single submitter
ILK p.Pro313Thr Uncertain significance Single submitter
ILK p.Pro353Thr Uncertain significance Single submitter
ILK p.Pro37Leu Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Ser418Pro Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Thr172Asn Uncertain significance Single submitter
ILK p.Thr229Ile Uncertain significance Single submitter
ILK p.Thr23Ser Uncertain significance Single submitter
ILK p.Thr269Ile Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Thr387Ala Uncertain significance Single submitter
ILK p.Tyr132Cys Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Tyr278His Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Tyr351Cys Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Val126Ala Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Val380Met Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Val386Ala Uncertain significance Single submitter
ILK p.Val390Ala Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ILK p.Val83Leu Uncertain significance Single submitter
familial hypertrophic cardiomyopathy

All ILK variants

Conflicting classifications of pathogenicity 14

p.Arg211Cys Single submitter familial hypertrophic cardiomyopathy ⚠
p.Arg211His Single submitter familial hypertrophic cardiomyopathy ⚠
p.Asn194Asp Single submitter familial hypertrophic cardiomyopathy ⚠
p.Asn22Ser Single submitter cardiomyopathy ⚠
p.Asn236Ser Single submitter familial hypertrophic cardiomyopathy ⚠
p.Asn321Ser Single submitter familial hypertrophic cardiomyopathy ⚠
p.Glu153Gly Single submitter familial hypertrophic cardiomyopathy ⚠
p.Gly156Ser Single submitter familial hypertrophic cardiomyopathy ⚠
p.Gly205Glu Single submitter familial hypertrophic cardiomyopathy ⚠
p.Leu53Met Single submitter familial hypertrophic cardiomyopathy ⚠
p.Lys223Asn Single submitter familial hypertrophic cardiomyopathy ⚠
p.Phe168Cys Single submitter Cardiovascular phenotype ⚠
p.Thr197= Single submitter familial hypertrophic cardiomyopathy
p.Val280Ile Single submitter familial hypertrophic cardiomyopathy ⚠

Benign 11

c.1079-18C>T Multiple submitters familial hypertrophic cardiomyopathy
c.255+89G>A Multiple submitters
c.618+23T>C Multiple submitters
c.90-234G>A Multiple submitters
c.-129G>T Multiple submitters
p.Ala306= Multiple submitters familial hypertrophic cardiomyopathy
p.Arg145Ser Multiple submitters familial hypertrophic cardiomyopathy
c.448+12del Single submitter cardiomyopathy
c.448+9= Single submitter familial hypertrophic cardiomyopathy
c.90-17T>C Single submitter familial hypertrophic cardiomyopathy
c.-108T>C Single submitter

Benign/Likely benign 11

c.1210-4G>A Multiple submitters familial hypertrophic cardiomyopathy
c.619-11C>T Multiple submitters familial hypertrophic cardiomyopathy
c.619-6C>T Multiple submitters familial hypertrophic cardiomyopathy
c.857-12G>A Multiple submitters familial hypertrophic cardiomyopathy
p.Ala302= Multiple submitters familial hypertrophic cardiomyopathy
p.Asn12= Multiple submitters familial hypertrophic cardiomyopathy
p.Asn94= Multiple submitters familial hypertrophic cardiomyopathy
p.His99= Multiple submitters familial hypertrophic cardiomyopathy
p.Pro273= Multiple submitters familial hypertrophic cardiomyopathy
p.Ser276= Multiple submitters familial hypertrophic cardiomyopathy
p.Val380= Multiple submitters

Likely benign 214

c.1079-10A>C Multiple submitters familial hypertrophic cardiomyopathy
c.1079-8C>T Multiple submitters familial hypertrophic cardiomyopathy
c.1209+18T>C Multiple submitters familial hypertrophic cardiomyopathy
c.1209+52A>C Multiple submitters
c.1210-5C>T Multiple submitters familial hypertrophic cardiomyopathy
c.255+10A>G Multiple submitters familial hypertrophic cardiomyopathy
c.255+19G>A Multiple submitters familial hypertrophic cardiomyopathy
c.255+4C>T Multiple submitters familial hypertrophic cardiomyopathy
c.351+10C>T Multiple submitters familial hypertrophic cardiomyopathy
c.351+19A>T Multiple submitters familial hypertrophic cardiomyopathy
c.351+39G>A Multiple submitters
c.449-15_449-12del Multiple submitters familial hypertrophic cardiomyopathy
c.532+14G>A Multiple submitters familial hypertrophic cardiomyopathy
c.619-12C>A Multiple submitters familial hypertrophic cardiomyopathy
c.728+13G>A Multiple submitters familial hypertrophic cardiomyopathy
c.729-7C>A Multiple submitters familial hypertrophic cardiomyopathy
c.979-17dup Multiple submitters familial hypertrophic cardiomyopathy
c.*61C>T Multiple submitters
p.Ala262= Multiple submitters familial hypertrophic cardiomyopathy
p.Ala338= Multiple submitters familial hypertrophic cardiomyopathy
p.Ala379= Multiple submitters familial hypertrophic cardiomyopathy
p.Ala74= Multiple submitters familial hypertrophic cardiomyopathy
p.Arg303= Multiple submitters familial hypertrophic cardiomyopathy
p.Asn200= Multiple submitters familial hypertrophic cardiomyopathy
p.Asn236= Multiple submitters familial hypertrophic cardiomyopathy
p.Asn279= Multiple submitters familial hypertrophic cardiomyopathy
p.Asn61= Multiple submitters familial hypertrophic cardiomyopathy
p.Asp118= Multiple submitters familial hypertrophic cardiomyopathy
p.Asp21= Multiple submitters familial hypertrophic cardiomyopathy
p.Asp374= Multiple submitters familial hypertrophic cardiomyopathy
p.Asp432= Multiple submitters familial hypertrophic cardiomyopathy
p.Cys422= Multiple submitters familial hypertrophic cardiomyopathy
p.Gln84= Multiple submitters familial hypertrophic cardiomyopathy
p.Glu238= Multiple submitters familial hypertrophic cardiomyopathy
p.Glu399= Multiple submitters familial hypertrophic cardiomyopathy
p.Gly156= Multiple submitters familial hypertrophic cardiomyopathy
p.Gly57= Multiple submitters familial hypertrophic cardiomyopathy
p.Gly78= Multiple submitters familial hypertrophic cardiomyopathy
p.His185= Multiple submitters familial hypertrophic cardiomyopathy
p.His270= Multiple submitters familial hypertrophic cardiomyopathy
p.His282= Multiple submitters familial hypertrophic cardiomyopathy
p.His77= Multiple submitters familial hypertrophic cardiomyopathy
p.Ile82= Multiple submitters familial hypertrophic cardiomyopathy
p.Ile93= Multiple submitters familial hypertrophic cardiomyopathy
p.Leu147= Multiple submitters familial hypertrophic cardiomyopathy
p.Leu18= Multiple submitters familial hypertrophic cardiomyopathy
p.Leu267= Multiple submitters familial hypertrophic cardiomyopathy
p.Leu308= Multiple submitters familial hypertrophic cardiomyopathy
p.Leu311= Multiple submitters familial hypertrophic cardiomyopathy
p.Leu395= Multiple submitters
p.Leu406= Multiple submitters familial hypertrophic cardiomyopathy
p.Leu446= Multiple submitters familial hypertrophic cardiomyopathy
p.Leu87= Multiple submitters familial hypertrophic cardiomyopathy
p.Phe287= Multiple submitters familial hypertrophic cardiomyopathy
p.Pro273= Multiple submitters familial hypertrophic cardiomyopathy
p.Pro347= Multiple submitters familial hypertrophic cardiomyopathy
p.Pro37= Multiple submitters familial hypertrophic cardiomyopathy
p.Pro37= Multiple submitters familial hypertrophic cardiomyopathy
p.Pro415= Multiple submitters familial hypertrophic cardiomyopathy
p.Ser246= Multiple submitters familial hypertrophic cardiomyopathy
p.Ser292= Multiple submitters familial hypertrophic cardiomyopathy
p.Ser324= Multiple submitters familial hypertrophic cardiomyopathy
p.Ser396= Multiple submitters familial hypertrophic cardiomyopathy
p.Thr167= Multiple submitters familial hypertrophic cardiomyopathy
p.Val218= Multiple submitters familial hypertrophic cardiomyopathy
p.Val295= Multiple submitters familial hypertrophic cardiomyopathy
p.Val356Ile Multiple submitters familial hypertrophic cardiomyopathy
p.Val96= Multiple submitters familial hypertrophic cardiomyopathy
c.1078+17T>C Single submitter familial hypertrophic cardiomyopathy
c.1078+18G>T Single submitter familial hypertrophic cardiomyopathy
c.1079-14C>A Single submitter
c.1079-14C>T Single submitter familial hypertrophic cardiomyopathy
c.1079-15G>A Single submitter familial hypertrophic cardiomyopathy
c.1209+13C>T Single submitter familial hypertrophic cardiomyopathy
c.1209+15G>C Single submitter familial hypertrophic cardiomyopathy
c.1209+8C>T Single submitter familial hypertrophic cardiomyopathy
c.1210-11T>C Single submitter familial hypertrophic cardiomyopathy
c.1210-11T>G Single submitter familial hypertrophic cardiomyopathy
c.1210-13C>G Single submitter familial hypertrophic cardiomyopathy
c.1210-17T>A Single submitter familial hypertrophic cardiomyopathy
c.1210-18T>C Single submitter familial hypertrophic cardiomyopathy
c.1210-20T>A Single submitter familial hypertrophic cardiomyopathy
c.255+16_255+18del Single submitter familial hypertrophic cardiomyopathy
c.255+17T>G Single submitter familial hypertrophic cardiomyopathy
c.256-14G>T Single submitter familial hypertrophic cardiomyopathy
c.351+18A>G Single submitter familial hypertrophic cardiomyopathy
c.352-4C>G Single submitter
c.352-8C>T Single submitter familial hypertrophic cardiomyopathy
c.352-9T>G Single submitter familial hypertrophic cardiomyopathy
c.448+11C>G Single submitter familial hypertrophic cardiomyopathy
c.449-11T>C Single submitter familial hypertrophic cardiomyopathy
c.449-15G>A Single submitter familial hypertrophic cardiomyopathy
c.449-19G>A Single submitter familial hypertrophic cardiomyopathy
c.532+11A>T Single submitter familial hypertrophic cardiomyopathy
c.532+13T>C Single submitter familial hypertrophic cardiomyopathy
c.532+17G>A Single submitter familial hypertrophic cardiomyopathy
c.533-11C>T Single submitter familial hypertrophic cardiomyopathy
c.533-14G>A Single submitter familial hypertrophic cardiomyopathy
c.533-16C>T Single submitter familial hypertrophic cardiomyopathy
c.533-7C>T Single submitter familial hypertrophic cardiomyopathy
c.533-8A>T Single submitter familial hypertrophic cardiomyopathy
c.618+10G>A Single submitter
c.618+16_618+18del Single submitter familial hypertrophic cardiomyopathy
c.618+19del Single submitter familial hypertrophic cardiomyopathy
c.618+7C>A Single submitter familial hypertrophic cardiomyopathy
c.619-12C>T Single submitter familial hypertrophic cardiomyopathy
c.619-13A>C Single submitter familial hypertrophic cardiomyopathy
c.619-18C>G Single submitter familial hypertrophic cardiomyopathy
c.619-9G>A Single submitter familial hypertrophic cardiomyopathy
c.728+12C>T Single submitter familial hypertrophic cardiomyopathy
c.728+17C>T Single submitter familial hypertrophic cardiomyopathy
c.728+8A>C Single submitter familial hypertrophic cardiomyopathy
c.729-10C>T Single submitter familial hypertrophic cardiomyopathy
c.729-14C>T Single submitter familial hypertrophic cardiomyopathy
c.729-15C>T Single submitter familial hypertrophic cardiomyopathy
c.856+14T>C Single submitter familial hypertrophic cardiomyopathy
c.856+16G>T Single submitter familial hypertrophic cardiomyopathy
c.857-10C>G Single submitter familial hypertrophic cardiomyopathy
c.857-10C>T Single submitter familial hypertrophic cardiomyopathy
c.857-12G>C Single submitter familial hypertrophic cardiomyopathy
c.857-19_857-17del Single submitter familial hypertrophic cardiomyopathy
c.89+3G>A Single submitter
c.89+8G>T Single submitter familial hypertrophic cardiomyopathy
c.90-5C>T Single submitter familial hypertrophic cardiomyopathy
c.978+10C>G Single submitter familial hypertrophic cardiomyopathy
c.978+13G>A Single submitter familial hypertrophic cardiomyopathy
c.979-14T>C Single submitter familial hypertrophic cardiomyopathy
c.979-19T>C Single submitter familial hypertrophic cardiomyopathy
c.979-20A>G Single submitter familial hypertrophic cardiomyopathy
c.979-6C>T Single submitter familial hypertrophic cardiomyopathy
c.-105A>G Single submitter
c.-109C>T Single submitter
c.-113G>T Single submitter
c.-16G>A Single submitter
c.-92-39A>G Single submitter
c.-92-95A>G Single submitter
c.-93+150G>C Single submitter
c.*2A>G Single submitter
p.Ala13= Single submitter
p.Ala15= Single submitter
p.Ala393= Single submitter
p.Arg174= Single submitter familial hypertrophic cardiomyopathy
p.Arg178= Single submitter
p.Arg230= Single submitter familial hypertrophic cardiomyopathy
p.Arg241= Single submitter familial hypertrophic cardiomyopathy
p.Arg323= Single submitter
p.Arg410= Single submitter
p.Arg46= Single submitter
p.Arg59= Single submitter
p.Asn122= Single submitter
p.Asn215= Single submitter familial hypertrophic cardiomyopathy
p.Asn321= Single submitter
p.Asp31= Single submitter familial hypertrophic cardiomyopathy
p.Asp394= Single submitter
p.Asp92= Single submitter
p.Cys129= Single submitter familial hypertrophic cardiomyopathy
p.Cys257= Single submitter
p.Gln213= Single submitter
p.Gln293= Single submitter
p.Gln29fs Single submitter
p.Gln345= Single submitter familial hypertrophic cardiomyopathy
p.Glu24= Single submitter
p.Glu407= Single submitter
p.Glu44= Single submitter
p.Gly133= Single submitter
p.Gly171= Single submitter
p.Gly214= Single submitter
p.Gly284= Single submitter
p.His203= Single submitter
p.His39= Single submitter familial hypertrophic cardiomyopathy
p.His420= Single submitter
p.Ile315= Single submitter familial hypertrophic cardiomyopathy
p.Ile400= Single submitter familial hypertrophic cardiomyopathy
p.Ile442= Single submitter familial hypertrophic cardiomyopathy
p.Ile60= Single submitter familial hypertrophic cardiomyopathy
p.Leu144= Single submitter
p.Leu196= Single submitter familial hypertrophic cardiomyopathy
p.Leu199= Single submitter
p.Leu207= Single submitter familial hypertrophic cardiomyopathy
p.Leu251= Single submitter
p.Leu299= Single submitter
p.Leu409= Single submitter familial hypertrophic cardiomyopathy
p.Leu53= Single submitter
p.Leu71= Single submitter
p.Leu73= Single submitter
p.Lys363= Single submitter
p.Lys435= Single submitter familial hypertrophic cardiomyopathy
p.Lys448= Single submitter
p.Lys452= Single submitter familial hypertrophic cardiomyopathy
p.Phe344= Single submitter
p.Pro163= Single submitter familial hypertrophic cardiomyopathy
p.Pro177= Single submitter
p.Pro273Arg Single submitter familial hypertrophic cardiomyopathy ⚠
p.Pro358= Single submitter familial hypertrophic cardiomyopathy
p.Pro411= Single submitter familial hypertrophic cardiomyopathy
p.Ser259= Single submitter familial hypertrophic cardiomyopathy
p.Thr23= Single submitter familial hypertrophic cardiomyopathy
p.Thr310= Single submitter familial hypertrophic cardiomyopathy
p.Thr368= Single submitter
p.Thr412= Single submitter
p.Thr69= Single submitter familial hypertrophic cardiomyopathy
p.Thr69= Single submitter
p.Tyr274= Single submitter
p.Val16= Single submitter
p.Val221= Single submitter familial hypertrophic cardiomyopathy
p.Val224= Single submitter familial hypertrophic cardiomyopathy
p.Val288= Single submitter
p.Val295= Single submitter familial hypertrophic cardiomyopathy
p.Val356= Single submitter
p.Val390= Single submitter
p.Val421= Single submitter familial hypertrophic cardiomyopathy
p.Val443= Single submitter familial hypertrophic cardiomyopathy
p.Val62= Single submitter
p.Asp216= No assertion criteria ILK-related disorder

Uncertain significance 267

p.Ala41Val Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Arg149Gln Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Arg151Trp Multiple submitters familial hypertrophic cardiomyopathy
p.Arg161Cys Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Arg161His Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Arg174Cys Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Arg174His Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Arg323His Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Arg334Gln Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Arg371Cys Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Arg371His Multiple submitters familial hypertrophic cardiomyopathy
p.Arg388Trp Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Arg410Gln Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Arg436Gln Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Arg43Gln Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Arg46Cys Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Arg59Trp Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Arg80Cys Multiple submitters familial hypertrophic cardiomyopathy
p.Asn122Tyr Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Asn28Ser Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Asn369fs Multiple submitters ILK-related disorder
p.Asp32Asn Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Asp394Asn Multiple submitters familial hypertrophic cardiomyopathy
p.Gln362His Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Glu201Lys Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Glu44Gln Multiple submitters ILK-related disorder ⚠
p.Gly205Arg Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Gly210Ser Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.His264Tyr Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.His99Pro Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Ile217Thr Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Ile93Val Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Leu125Val Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Leu159Val Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Leu199Phe Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Leu320Ile Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Leu320Val Multiple submitters ILK-related disorder ⚠
p.Lys141Arg Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Lys184Thr Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Lys341Arg Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Lys452Thr Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Met272Arg Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Met350Leu Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Met55Leu Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Phe245Tyr Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Pro143Thr Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Pro260Ser Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Pro273Gln Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Pro419Leu Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Pro444His Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Ser186Pro Multiple submitters familial hypertrophic cardiomyopathy
p.Ser204Ala Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Ser47Cys Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Thr172Ile Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Thr173Ile Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Thr181Ile Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Thr197Met Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Thr332Ile Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Trp212Cys Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Trp227Arg Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Tyr132Asp Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Val137Ala Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Val219Met Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Val253Ala Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Val288Ile Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Val289Met Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Val49Ala Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Val50Ala Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Val62Ile Multiple submitters familial hypertrophic cardiomyopathy ⚠
c.1078+5G>A Single submitter familial hypertrophic cardiomyopathy
c.1210-2A>G Single submitter familial hypertrophic cardiomyopathy
c.252_255+9dup Single submitter familial hypertrophic cardiomyopathy
c.255+3A>G Single submitter familial hypertrophic cardiomyopathy
c.256-10del Single submitter familial hypertrophic cardiomyopathy
c.256-7G>A Single submitter familial hypertrophic cardiomyopathy
c.448+4dup Single submitter familial hypertrophic cardiomyopathy
c.449-3T>C Single submitter familial hypertrophic cardiomyopathy
c.532+1G>A Single submitter
c.618+5C>G Single submitter familial hypertrophic cardiomyopathy
c.729-20C>G Single submitter familial hypertrophic cardiomyopathy
c.729-3T>C Single submitter familial hypertrophic cardiomyopathy
c.856+1G>A Single submitter familial hypertrophic cardiomyopathy
c.856+3G>A Single submitter familial hypertrophic cardiomyopathy
c.89+6C>T Single submitter familial hypertrophic cardiomyopathy
c.978+3G>A Single submitter familial hypertrophic cardiomyopathy
c.978+5_979-38dup Single submitter familial hypertrophic cardiomyopathy
c.979-2A>C Single submitter familial hypertrophic cardiomyopathy
p.Ala124Ser Single submitter familial hypertrophic cardiomyopathy ⚠
p.Ala256Thr Single submitter familial hypertrophic cardiomyopathy ⚠
p.Ala294Thr Single submitter familial hypertrophic cardiomyopathy ⚠
p.Ala333Gly Single submitter ⚠
p.Ala379Val Single submitter familial hypertrophic cardiomyopathy ⚠
p.Ala405Val Single submitter familial hypertrophic cardiomyopathy
p.Ala434Glu Single submitter familial hypertrophic cardiomyopathy ⚠
p.Ala58Val Single submitter ⚠
p.Ala75Pro Single submitter familial hypertrophic cardiomyopathy ⚠
p.Ala91Thr Single submitter ⚠
p.Arg145Gly Single submitter familial hypertrophic cardiomyopathy ⚠
p.Arg151Gln Single submitter familial hypertrophic cardiomyopathy ⚠
p.Arg176Gln Single submitter familial hypertrophic cardiomyopathy ⚠
p.Arg178Ter Single submitter familial hypertrophic cardiomyopathy
p.Arg225Gln Single submitter familial hypertrophic cardiomyopathy ⚠
p.Arg225Ter Single submitter familial hypertrophic cardiomyopathy
p.Arg230Gly Single submitter familial hypertrophic cardiomyopathy ⚠
p.Arg241Gln Single submitter familial hypertrophic cardiomyopathy
p.Arg241Trp Single submitter familial hypertrophic cardiomyopathy ⚠
p.Arg317Gln Single submitter familial hypertrophic cardiomyopathy ⚠
p.Arg323Cys Single submitter ⚠
p.Arg349Cys Single submitter familial hypertrophic cardiomyopathy ⚠
p.Arg349His Single submitter familial hypertrophic cardiomyopathy ⚠
p.Arg349Leu Single submitter familial hypertrophic cardiomyopathy ⚠
p.Arg388Gln Single submitter ⚠
p.Arg410Trp Single submitter familial hypertrophic cardiomyopathy ⚠
p.Arg436Ter Single submitter familial hypertrophic cardiomyopathy
p.Arg43Gly Single submitter ⚠
p.Arg46His Single submitter familial hypertrophic cardiomyopathy ⚠
p.Arg59Gly Single submitter familial hypertrophic cardiomyopathy ⚠
p.Arg65Cys Single submitter familial hypertrophic cardiomyopathy ⚠
p.Arg65His Single submitter ⚠
p.Arg65Leu Single submitter familial hypertrophic cardiomyopathy ⚠
p.Arg65Ser Single submitter ⚠
p.Asn12Lys Single submitter familial hypertrophic cardiomyopathy ⚠
p.Asn12Ser Single submitter familial hypertrophic cardiomyopathy ⚠
p.Asn158Tyr Single submitter ⚠
p.Asn160Asp Single submitter ⚠
p.Asn194Thr Single submitter familial hypertrophic cardiomyopathy ⚠
p.Asn200Lys Single submitter
p.Asn202Ser Single submitter familial hypertrophic cardiomyopathy ⚠
p.Asn215Ser Single submitter ⚠
p.Asn22Asp Single submitter ⚠
p.Asn236Ile Single submitter familial hypertrophic cardiomyopathy ⚠
p.Asn279Ser Single submitter familial hypertrophic cardiomyopathy ⚠
p.Asn321Asp Single submitter familial hypertrophic cardiomyopathy ⚠
p.Asp113Tyr Single submitter familial hypertrophic cardiomyopathy
p.Asp118Asn Single submitter familial hypertrophic cardiomyopathy ⚠
p.Asp189= Single submitter familial hypertrophic cardiomyopathy
p.Asp216Gly Single submitter familial hypertrophic cardiomyopathy ⚠
p.Asp234Asn Single submitter familial hypertrophic cardiomyopathy ⚠
p.Asp290Ala Single submitter ⚠
p.Asp330Asn Single submitter ⚠
p.Asp339Tyr Single submitter ⚠
p.Asp367Gly Single submitter ⚠
p.Asp432Asn Single submitter ⚠
p.Asp451Glu Single submitter familial hypertrophic cardiomyopathy ⚠
p.Asp67Asn Single submitter ⚠
p.Asp92Asn Single submitter familial hypertrophic cardiomyopathy ⚠
p.Cys129Ser Single submitter ⚠
p.Cys346Ter Single submitter familial hypertrophic cardiomyopathy
p.Cys346Tyr Single submitter ⚠
p.Gln213Arg Single submitter familial hypertrophic cardiomyopathy ⚠
p.Gln293His Single submitter ⚠
p.Gln88His Single submitter familial hypertrophic cardiomyopathy ⚠
p.Glu146Gln Single submitter familial hypertrophic cardiomyopathy ⚠
p.Glu238Asp Single submitter ⚠
p.Glu238Val Single submitter ⚠
p.Glu359Asp Single submitter ⚠
p.Glu359Lys Single submitter familial hypertrophic cardiomyopathy ⚠
p.Glu51Gln Single submitter familial hypertrophic cardiomyopathy ⚠
p.Gly133Glu Single submitter ⚠
p.Gly187Val Single submitter ⚠
p.Gly214Asp Single submitter familial hypertrophic cardiomyopathy ⚠
p.Gly255Cys Single submitter ⚠
p.Gly255Val Single submitter ⚠
p.Gly57Arg Single submitter familial hypertrophic cardiomyopathy ⚠
p.His264Gln Single submitter ⚠
p.His270Arg Single submitter ⚠
p.His318Leu Single submitter ⚠
p.His318Tyr Single submitter familial hypertrophic cardiomyopathy ⚠
p.His33Pro Single submitter ⚠
p.His420fs Single submitter familial hypertrophic cardiomyopathy
p.His420Tyr Single submitter familial hypertrophic cardiomyopathy ⚠
p.His77Arg Single submitter ⚠
p.His79Arg Single submitter ⚠
p.His79Leu Single submitter familial hypertrophic cardiomyopathy ⚠
p.Ile128Phe Single submitter
p.Ile188Val Single submitter familial hypertrophic cardiomyopathy ⚠
p.Ile217Phe Single submitter familial hypertrophic cardiomyopathy ⚠
p.Ile315Thr Single submitter familial hypertrophic cardiomyopathy ⚠
p.Ile315Val Single submitter ⚠
p.Ile335Val Single submitter ⚠
p.Ile413Asn Single submitter familial hypertrophic cardiomyopathy ⚠
p.Ile82Val Single submitter familial hypertrophic cardiomyopathy ⚠
p.Leu147Phe Single submitter ⚠
p.Leu147Pro Single submitter ⚠
p.Leu193Ile Single submitter familial hypertrophic cardiomyopathy ⚠
p.Leu196Val Single submitter familial hypertrophic cardiomyopathy ⚠
p.Leu207Val Single submitter familial hypertrophic cardiomyopathy ⚠
p.Leu267Val Single submitter familial hypertrophic cardiomyopathy ⚠
p.Leu320Phe Single submitter familial hypertrophic cardiomyopathy ⚠
p.Leu385Met Single submitter ⚠
p.Leu406Ser Single submitter ⚠
p.Leu409fs Single submitter familial hypertrophic cardiomyopathy
p.Leu424Val Single submitter familial hypertrophic cardiomyopathy ⚠
p.Leu71fs Single submitter
p.Lys165Asn Single submitter ⚠
p.Lys165Glu Single submitter ⚠
p.Lys209_Trp212del Single submitter familial hypertrophic cardiomyopathy
p.Lys296Thr Single submitter ⚠
p.Lys363Arg Single submitter ⚠
p.Lys363Asn Single submitter ⚠
p.Lys364Gln Single submitter ⚠
p.Lys438Thr Single submitter ⚠
p.Met135Ile Single submitter ⚠
p.Met272Ile Single submitter ⚠
p.Met301Leu Single submitter ⚠
p.Met375Ile Single submitter ⚠
p.Met375Leu Single submitter familial hypertrophic cardiomyopathy ⚠
p.Met402Val Single submitter ⚠
p.Met425Ile Single submitter familial hypertrophic cardiomyopathy ⚠
p.Met425Leu Single submitter familial hypertrophic cardiomyopathy
p.Met429Val Single submitter ⚠
p.Met441Arg Single submitter familial hypertrophic cardiomyopathy ⚠
p.Met441fs Single submitter familial hypertrophic cardiomyopathy
p.Met449Ile Single submitter familial hypertrophic cardiomyopathy ⚠
p.Met52Val Single submitter ⚠
p.Met55_Ile60del Single submitter familial hypertrophic cardiomyopathy
p.Met55Thr Single submitter familial hypertrophic cardiomyopathy ⚠
p.Met55Val Single submitter familial hypertrophic cardiomyopathy ⚠
p.Phe168Leu Single submitter familial hypertrophic cardiomyopathy ⚠
p.Phe190Leu Single submitter familial hypertrophic cardiomyopathy ⚠
p.Phe344Tyr Single submitter familial hypertrophic cardiomyopathy ⚠
p.Pro143Leu Single submitter familial hypertrophic cardiomyopathy ⚠
p.Pro177Ser Single submitter familial hypertrophic cardiomyopathy ⚠
p.Pro261Ser Single submitter ⚠
p.Pro265Leu Single submitter familial hypertrophic cardiomyopathy ⚠
p.Pro273Leu Single submitter ⚠
p.Pro313Thr Single submitter ⚠
p.Pro316Ser Single submitter familial hypertrophic cardiomyopathy ⚠
p.Pro353Thr Single submitter ⚠
p.Pro365Ala Single submitter ⚠
p.Pro37Leu Single submitter familial hypertrophic cardiomyopathy ⚠
p.Pro433Ser Single submitter ⚠
p.Ser232Asn Single submitter familial hypertrophic cardiomyopathy ⚠
p.Ser377Gly Single submitter ⚠
p.Ser418Pro Single submitter familial hypertrophic cardiomyopathy ⚠
p.Ter453Gln Single submitter familial hypertrophic cardiomyopathy
p.Thr172Asn Single submitter ⚠
p.Thr229Ala Single submitter ⚠
p.Thr229Ile Single submitter ⚠
p.Thr23Ser Single submitter ⚠
p.Thr266Ile Single submitter ⚠
p.Thr269Ile Single submitter familial hypertrophic cardiomyopathy ⚠
p.Thr387Ala Single submitter ⚠
p.Thr69Ile Single submitter familial hypertrophic cardiomyopathy ⚠
p.Thr69Ser Single submitter ⚠
p.Trp227Arg Single submitter familial hypertrophic cardiomyopathy ⚠
p.Trp227Ser Single submitter ⚠
p.Trp383Ter Single submitter familial hypertrophic cardiomyopathy
p.Tyr132Cys Single submitter familial hypertrophic cardiomyopathy ⚠
p.Tyr278His Single submitter familial hypertrophic cardiomyopathy ⚠
p.Tyr351Cys Single submitter familial hypertrophic cardiomyopathy ⚠
p.Tyr89Ser Single submitter familial hypertrophic cardiomyopathy ⚠
p.Val126Ala Single submitter familial hypertrophic cardiomyopathy ⚠
p.Val126Ile Single submitter ⚠
p.Val137fs Single submitter familial hypertrophic cardiomyopathy
p.Val16Phe Single submitter ⚠
p.Val219Glu Single submitter familial hypertrophic cardiomyopathy ⚠
p.Val253Leu Single submitter familial hypertrophic cardiomyopathy ⚠
p.Val340Ile Single submitter familial hypertrophic cardiomyopathy ⚠
p.Val380Met Single submitter familial hypertrophic cardiomyopathy ⚠
p.Val386Ala Single submitter ⚠
p.Val390Ala Single submitter familial hypertrophic cardiomyopathy ⚠
p.Val390Gly Single submitter ⚠
p.Val390Ile Single submitter ⚠
p.Val83Leu Single submitter familial hypertrophic cardiomyopathy ⚠
p.Ala262Val No assertion criteria Variant of unknown significance ⚠
p.Val340= No assertion criteria