CALR3 — 374 ClinVar variants

All ClinVar germline CALR3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 175 flagged for review →

9 Conflicting · 45 Benign · 4 Benign/Likely benign · 106 Likely benign · 210 Uncertain significance

Full CALR3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 175

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 5

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

CALR3 p.Asp135Asn Conflicting Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Asp242Asn Conflicting Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Glu372Gln Conflicting Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Gly72Asp Conflicting Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Thr283Ile Conflicting Single submitter
hypertrophic cardiomyopathy

Predictors lean, ClinVar uncertain 119

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

CALR3 p.Ala331Val Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 19
CALR3 p.Ala348Val Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 19
CALR3 p.Arg278His Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 19
CALR3 p.Arg278Leu Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 19
CALR3 p.Asp242His Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 19
CALR3 p.Asp263His Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 19
CALR3 p.Asp344Glu Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 19
CALR3 p.Gln257Pro Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 19
CALR3 p.Glu25Gly Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 19
CALR3 p.Glu335Lys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 19
CALR3 p.Glu357Lys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 19
CALR3 p.Gly108Ala Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 19
CALR3 p.Gly167Asp Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 19
CALR3 p.His231Asp Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 19
CALR3 p.His271Arg Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 19
CALR3 p.Lys353Arg Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 19
CALR3 p.Phe378Leu Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 19
CALR3 p.Pro260Leu Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 19
CALR3 p.Ser214Leu Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 19
CALR3 p.Trp33Arg Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 19
CALR3 p.Tyr374Asp Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 19
CALR3 p.Val6Ile Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 19
CALR3 p.Ala10Thr Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Ala225Val Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Ala235Thr Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Ala253Val Uncertain significance Single submitter
CALR3 p.Ala299Val Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Ala325Thr Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Ala348Asp Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Ala355Val Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Arg278Pro Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Arg308Lys Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Arg381Lys Uncertain significance Single submitter
CALR3 p.Asn123Thr Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Asn201Ser Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Asn223Asp Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Asn71Ser Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Asp135Gly Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Asp140Tyr Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Asp227Glu Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Asp248Ala Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Asp248Asn Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Asp284Glu Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Asp314Gly Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Asp314Val Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Asp63Glu Uncertain significance Single submitter
CALR3 p.Asp63His Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Cys105Ser Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Cys12Gly Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Cys163Tyr Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Gln226Glu Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Gln262His Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Gln288Arg Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Gln306Lys Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Gln377Glu Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Gln377Lys Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Gln7His Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Glu100Lys Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Glu197Asp Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Glu208Ala Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Glu229Lys Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Glu303Lys Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Glu351Asp Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Glu360Lys Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Glu372Lys Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Glu61Lys Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Gly245Ser Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Gly329Asp Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Gly338Val Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Gly47Arg Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.His149Tyr Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.His170Tyr Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.His32Tyr Uncertain significance Single submitter
CALR3 p.His48Tyr Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Ile117Phe Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Ile117Val Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Ile11Val Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Ile136Thr Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Ile141Val Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Ile346Val Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Ile368Ser Uncertain significance Single submitter
CALR3 p.Ile93Val Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Leu174Pro Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Leu205Val Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Leu233Pro Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Leu233Val Uncertain significance Single submitter
hypertrophic cardiomyopathy
CALR3 p.Leu247Gln Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Leu256Phe Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Lys111Glu Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Lys151Arg Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Lys207Glu Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Lys207Thr Uncertain significance Single submitter
CALR3 p.Lys55Glu Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Met103Ile Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Met13Ile Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Met13Thr Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Met13Val Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Phe23Ile Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Pro134Ser Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Pro211Leu Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Ser214Trp Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Ser241Arg Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Ser309Thr Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Thr203Ile Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Thr209Lys Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Thr20Ala Uncertain significance Single submitter
CALR3 p.Thr237Ser Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Thr287Met Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Thr96Ala Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Trp200Cys Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Trp243Arg Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Tyr109Cys Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Tyr109His Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Tyr182Cys Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Tyr75Cys Uncertain significance Single submitter
CALR3 p.Tyr75Phe Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Val165Phe Uncertain significance Single submitter
CALR3 p.Val92Phe Uncertain significance Single submitter
CALR3 p.Asn42Asp Uncertain significance No assertion criteria
CALR3-related disorder

Predictors split 51

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

CALR3 p.Arg278Cys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 19
CALR3 p.Arg308Ile Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 19
CALR3 p.Arg356Cys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 19
CALR3 p.Arg80Cys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 19
CALR3 p.Cys12Arg Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 19
CALR3 p.Glu383Lys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 19
CALR3 p.Gly194Ser Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 19
CALR3 p.Leu38Trp Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 19
CALR3 p.Thr173Ala Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 19
CALR3 p.Tyr57His Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 19
CALR3 p.Ala76Thr Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Arg356His Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Arg36Gln Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Arg73Gln Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Arg73Gly Conflicting Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Asn201His Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Asp179Tyr Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Asp321Asn Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Asp321Gly Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Asp43Asn Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Gln119Arg Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Gln24His Uncertain significance Single submitter
CALR3 p.Gln67Arg Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Glu156Gln Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Glu156Lys Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Glu360Asp Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Gly88Glu Uncertain significance Single submitter
CALR3 p.Ile196Thr Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Leu174Ile Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Leu180Ile Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Leu384Pro Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Leu8Arg Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Leu8Pro Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Leu91Val Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Lys120Asn Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Lys159Thr Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Lys349Asn Uncertain significance Single submitter
CALR3 p.Lys353Asn Uncertain significance Single submitter
CALR3 p.Lys82Arg Conflicting Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Lys98Arg Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Phe46Ser Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Pro83Leu Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Ser126Leu Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Ser365Leu Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Ser53Leu Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Thr209Met Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Thr90Pro Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Trp251Arg Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Tyr22Cys Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Val92Ile Uncertain significance Single submitter
hypertrophic cardiomyopathy 19
CALR3 p.Arg162Gly Uncertain significance No assertion criteria
hypertrophic cardiomyopathy 19

All CALR3 variants

Conflicting classifications of pathogenicity 9

c.679-3dup Single submitter cardiomyopathy
p.Arg73Gly Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Asp135Asn Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Asp242Asn Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Gln189fs Single submitter hypertrophic cardiomyopathy 19
p.Glu372Gln Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Gly72Asp Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Lys82Arg Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Thr283Ile Single submitter hypertrophic cardiomyopathy ⚠

Benign 45

c.1012-86A>C Multiple submitters
c.1012-9T>C Multiple submitters hypertrophic cardiomyopathy 19
c.194-30T>A Multiple submitters
c.194-90T>C Multiple submitters
c.397+10C>T Multiple submitters hypertrophic cardiomyopathy 19
c.397+24A>G Multiple submitters
c.398-4G>A Multiple submitters hypertrophic cardiomyopathy 19
c.493-41T>C Multiple submitters
c.493-53G>A Multiple submitters
c.493-6A>G Multiple submitters hypertrophic cardiomyopathy 19
c.679-184G>T Multiple submitters
c.679-186T>C Multiple submitters
c.787-23C>T Multiple submitters
c.91+84C>G Multiple submitters
c.918+58T>C Multiple submitters
c.92-79C>G Multiple submitters
p.Arg356Leu Multiple submitters dilated cardiomyopathy
p.Asp234= Multiple submitters Cardiovascular phenotype
p.Gln127= Multiple submitters Cardiovascular phenotype
p.Ile161= Multiple submitters hypertrophic cardiomyopathy 19
p.Phe81= Multiple submitters hypertrophic cardiomyopathy 19
p.Tyr324= Multiple submitters hypertrophic cardiomyopathy 19
p.Val274Ile Multiple submitters Cardiovascular phenotype
c.1011+187G>A Single submitter
c.1011+189C>T Single submitter
c.1011+251T>C Single submitter
c.1012-167dup Single submitter
c.1012-175C>T Single submitter
c.193+172_193+173dup Single submitter
c.193+172dup Single submitter
c.193+190_193+192del Single submitter
c.193+191_193+192del Single submitter
c.194-13A>G Single submitter hypertrophic cardiomyopathy 19
c.194-194del Single submitter
c.787-14dup Single submitter hypertrophic cardiomyopathy 19
c.918+249G>A Single submitter
c.918+321G>T Single submitter
c.918+47TTGTT[4] Single submitter
c.919-10del Single submitter hypertrophic cardiomyopathy 19
c.919-178C>T Single submitter
c.919-183A>G Single submitter
p.His271= Single submitter hypertrophic cardiomyopathy 19
p.His32= Single submitter hypertrophic cardiomyopathy 19
p.Leu363= Single submitter hypertrophic cardiomyopathy 19
p.Tyr198= Single submitter hypertrophic cardiomyopathy 19

Benign/Likely benign 4

c.398-6T>C Multiple submitters hypertrophic cardiomyopathy 19
p.Asn42Ser Multiple submitters hypertrophic cardiomyopathy 19
p.Asp284Asn Multiple submitters Cardiovascular phenotype
p.Thr287= Multiple submitters Cardiovascular phenotype

Likely benign 106

c.92-7C>G Multiple submitters hypertrophic cardiomyopathy 19
p.Asp216= Multiple submitters hypertrophic cardiomyopathy 19
p.Leu171= Multiple submitters hypertrophic cardiomyopathy 19
p.Ser126= Multiple submitters hypertrophic cardiomyopathy 19
c.1011+11C>T Single submitter hypertrophic cardiomyopathy 19
c.1011+12G>A Single submitter hypertrophic cardiomyopathy 19
c.1011+12G>T Single submitter hypertrophic cardiomyopathy 19
c.1011+16T>A Single submitter hypertrophic cardiomyopathy 19
c.1012-10_1012-9del Single submitter hypertrophic cardiomyopathy 19
c.193+15_193+16del Single submitter hypertrophic cardiomyopathy 19
c.193+15A>G Single submitter hypertrophic cardiomyopathy 19
c.193+17G>A Single submitter hypertrophic cardiomyopathy 19
c.194-14T>A Single submitter hypertrophic cardiomyopathy 19
c.397+11G>A Single submitter hypertrophic cardiomyopathy 19
c.397+13G>A Single submitter hypertrophic cardiomyopathy 19
c.397+7T>A Single submitter hypertrophic cardiomyopathy 19
c.398-11C>A Single submitter hypertrophic cardiomyopathy 19
c.398-15T>A Single submitter hypertrophic cardiomyopathy 19
c.398-17G>C Single submitter hypertrophic cardiomyopathy 19
c.398-20G>A Single submitter hypertrophic cardiomyopathy 19
c.398-9T>C Single submitter hypertrophic cardiomyopathy 19
c.492+9T>C Single submitter hypertrophic cardiomyopathy 19
c.493-15C>G Single submitter hypertrophic cardiomyopathy 19
c.493-18T>C Single submitter hypertrophic cardiomyopathy 19
c.493-4G>A Single submitter hypertrophic cardiomyopathy 19
c.493-64del Single submitter
c.493-64dup Single submitter
c.678+13C>T Single submitter hypertrophic cardiomyopathy 19
c.679-7T>C Single submitter hypertrophic cardiomyopathy 19
c.786+13T>C Single submitter hypertrophic cardiomyopathy 19
c.786+14_786+15del Single submitter hypertrophic cardiomyopathy 19
c.786+18A>T Single submitter hypertrophic cardiomyopathy 19
c.786+9C>A Single submitter hypertrophic cardiomyopathy 19
c.787-11T>G Single submitter hypertrophic cardiomyopathy 19
c.787-18A>G Single submitter hypertrophic cardiomyopathy 19
c.787-20A>G Single submitter hypertrophic cardiomyopathy 19
c.787-8del Single submitter hypertrophic cardiomyopathy 19
c.91+13C>T Single submitter hypertrophic cardiomyopathy 19
c.91+15C>T Single submitter hypertrophic cardiomyopathy 19
c.91+7G>C Single submitter hypertrophic cardiomyopathy 19
c.918+16C>T Single submitter hypertrophic cardiomyopathy 19
c.918+20A>G Single submitter hypertrophic cardiomyopathy 19
c.919-10T>G Single submitter hypertrophic cardiomyopathy 19
c.92-16T>C Single submitter hypertrophic cardiomyopathy 19
c.92-20T>C Single submitter hypertrophic cardiomyopathy 19
c.92-6C>G Single submitter hypertrophic cardiomyopathy 19
c.92-8C>T Single submitter hypertrophic cardiomyopathy 19
p.Ala10= Single submitter hypertrophic cardiomyopathy 19
p.Ala115= Single submitter hypertrophic cardiomyopathy 19
p.Ala2= Single submitter hypertrophic cardiomyopathy 19
p.Ala235= Single submitter hypertrophic cardiomyopathy 19
p.Ala253= Single submitter hypertrophic cardiomyopathy 19
p.Arg356= Single submitter hypertrophic cardiomyopathy 19
p.Arg370= Single submitter hypertrophic cardiomyopathy 19
p.Arg80Pro Single submitter cardiomyopathy
p.Asn244= Single submitter hypertrophic cardiomyopathy 19
p.Asp246= Single submitter hypertrophic cardiomyopathy 19
p.Asp320= Single submitter hypertrophic cardiomyopathy 19
p.Asp43= Single submitter hypertrophic cardiomyopathy 19
p.Gln377= Single submitter hypertrophic cardiomyopathy 19
p.Glu156= Single submitter hypertrophic cardiomyopathy 19
p.Glu213= Single submitter hypertrophic cardiomyopathy 19
p.Glu323= Single submitter hypertrophic cardiomyopathy 19
p.Glu360= Single submitter hypertrophic cardiomyopathy 19
p.Gly329= Single submitter hypertrophic cardiomyopathy 19
p.Gly334= Single submitter hypertrophic cardiomyopathy 19
p.Gly65= Single submitter hypertrophic cardiomyopathy 19
p.Gly72= Single submitter hypertrophic cardiomyopathy 19
p.His32Arg Single submitter
p.His371= Single submitter hypertrophic cardiomyopathy 19
p.Ile297= Single submitter hypertrophic cardiomyopathy 19
p.Ile368= Single submitter hypertrophic cardiomyopathy 19
p.Leu202= Single submitter hypertrophic cardiomyopathy 19
p.Leu247= Single submitter hypertrophic cardiomyopathy 19
p.Leu286= Single submitter hypertrophic cardiomyopathy 19
p.Leu384= Single submitter hypertrophic cardiomyopathy 19
p.Leu91= Single submitter hypertrophic cardiomyopathy 19
p.Lys230= Single submitter hypertrophic cardiomyopathy 19
p.Lys272= Single submitter hypertrophic cardiomyopathy 19
p.Phe139= Single submitter hypertrophic cardiomyopathy 19
p.Phe232= Single submitter hypertrophic cardiomyopathy 19
p.Pro211= Single submitter hypertrophic cardiomyopathy 19
p.Pro254= Single submitter hypertrophic cardiomyopathy 19
p.Pro254Leu Single submitter hypertrophic cardiomyopathy 19
p.Pro259= Single submitter hypertrophic cardiomyopathy 19
p.Pro260= Single submitter hypertrophic cardiomyopathy 19
p.Pro339= Single submitter hypertrophic cardiomyopathy 19
p.Pro83= Single submitter hypertrophic cardiomyopathy 19
p.Ser193= Single submitter hypertrophic cardiomyopathy 19
p.Ser214= Single submitter hypertrophic cardiomyopathy 19
p.Ser238= Single submitter hypertrophic cardiomyopathy 19
p.Ser241= Single submitter hypertrophic cardiomyopathy 19
p.Ser365= Single submitter hypertrophic cardiomyopathy 19
p.Ser52= Single submitter hypertrophic cardiomyopathy 19
p.Ser53= Single submitter hypertrophic cardiomyopathy 19
p.Ser78= Single submitter hypertrophic cardiomyopathy 19
p.Thr20= Single submitter hypertrophic cardiomyopathy 19
p.Thr203= Single submitter hypertrophic cardiomyopathy 19
p.Thr209= Single submitter hypertrophic cardiomyopathy 19
p.Thr283= Single submitter hypertrophic cardiomyopathy 19
p.Tyr129= Single submitter hypertrophic cardiomyopathy 19
p.Tyr172= Single submitter hypertrophic cardiomyopathy 19
p.Tyr182= Single submitter hypertrophic cardiomyopathy 19
p.Val112= Single submitter hypertrophic cardiomyopathy 19
p.Val21= Single submitter hypertrophic cardiomyopathy 19
p.Val97= Single submitter hypertrophic cardiomyopathy 19

Uncertain significance 210

p.Ala331Val Multiple submitters hypertrophic cardiomyopathy 19 ⚠
p.Ala348Val Multiple submitters hypertrophic cardiomyopathy 19 ⚠
p.Arg278Cys Multiple submitters hypertrophic cardiomyopathy 19 ⚠
p.Arg278His Multiple submitters hypertrophic cardiomyopathy 19 ⚠
p.Arg278Leu Multiple submitters hypertrophic cardiomyopathy 19 ⚠
p.Arg308Ile Multiple submitters hypertrophic cardiomyopathy 19 ⚠
p.Arg356Cys Multiple submitters hypertrophic cardiomyopathy 19 ⚠
p.Arg80Cys Multiple submitters hypertrophic cardiomyopathy 19 ⚠
p.Asp242His Multiple submitters hypertrophic cardiomyopathy 19 ⚠
p.Asp263His Multiple submitters hypertrophic cardiomyopathy 19 ⚠
p.Asp344Glu Multiple submitters hypertrophic cardiomyopathy 19 ⚠
p.Cys12Arg Multiple submitters hypertrophic cardiomyopathy 19 ⚠
p.Gln257Pro Multiple submitters hypertrophic cardiomyopathy 19 ⚠
p.Glu25Gly Multiple submitters hypertrophic cardiomyopathy 19 ⚠
p.Glu335Lys Multiple submitters hypertrophic cardiomyopathy 19 ⚠
p.Glu357Lys Multiple submitters hypertrophic cardiomyopathy 19 ⚠
p.Glu383Lys Multiple submitters hypertrophic cardiomyopathy 19 ⚠
p.Gly108Ala Multiple submitters hypertrophic cardiomyopathy 19 ⚠
p.Gly167Asp Multiple submitters hypertrophic cardiomyopathy 19 ⚠
p.Gly194Ser Multiple submitters hypertrophic cardiomyopathy 19 ⚠
p.His231Asp Multiple submitters hypertrophic cardiomyopathy 19 ⚠
p.His271Arg Multiple submitters hypertrophic cardiomyopathy 19 ⚠
p.Leu174fs Multiple submitters hypertrophic cardiomyopathy 19
p.Leu38Trp Multiple submitters hypertrophic cardiomyopathy 19 ⚠
p.Lys353Arg Multiple submitters hypertrophic cardiomyopathy 19 ⚠
p.Phe378Leu Multiple submitters hypertrophic cardiomyopathy 19 ⚠
p.Pro260Leu Multiple submitters hypertrophic cardiomyopathy 19 ⚠
p.Ser214Leu Multiple submitters hypertrophic cardiomyopathy 19 ⚠
p.Thr173Ala Multiple submitters hypertrophic cardiomyopathy 19 ⚠
p.Trp33Arg Multiple submitters hypertrophic cardiomyopathy 19 ⚠
p.Tyr374Asp Multiple submitters hypertrophic cardiomyopathy 19 ⚠
p.Tyr57His Multiple submitters hypertrophic cardiomyopathy 19 ⚠
p.Val6Ile Multiple submitters hypertrophic cardiomyopathy 19 ⚠
c.193+1del Single submitter hypertrophic cardiomyopathy 19
c.193+1G>A Single submitter hypertrophic cardiomyopathy 19
c.193+4A>T Single submitter hypertrophic cardiomyopathy 19
c.193+6T>C Single submitter hypertrophic cardiomyopathy 19
c.194-2A>G Single submitter hypertrophic cardiomyopathy 19
c.194-3A>C Single submitter hypertrophic cardiomyopathy 19
c.194-3A>G Single submitter hypertrophic cardiomyopathy 19
c.398-10T>G Single submitter hypertrophic cardiomyopathy 19
c.493-1G>A Single submitter hypertrophic cardiomyopathy 19
c.493-1G>T Single submitter hypertrophic cardiomyopathy 19
c.786+3G>T Single submitter hypertrophic cardiomyopathy 19
c.787-25_787-12del Single submitter hypertrophic cardiomyopathy 19
c.787-3C>G Single submitter hypertrophic cardiomyopathy 19
c.91+6G>A Single submitter hypertrophic cardiomyopathy 19
c.918+14_918+30del Single submitter hypertrophic cardiomyopathy 19
c.92-1G>A Single submitter
p.Ala10Thr Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Ala225Val Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Ala235Thr Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Ala253Val Single submitter ⚠
p.Ala299Val Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Ala325Thr Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Ala348Asp Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Ala355Val Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Ala76Thr Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Arg278Pro Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Arg308Lys Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Arg356His Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Arg36Gln Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Arg381Lys Single submitter ⚠
p.Arg73Gln Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Arg73Ter Single submitter hypertrophic cardiomyopathy 19
p.Asn123Thr Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Asn157= Single submitter hypertrophic cardiomyopathy 19
p.Asn201His Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Asn201Ser Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Asn223Asp Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Asn71Ser Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Asp135Gly Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Asp140fs Single submitter hypertrophic cardiomyopathy 19
p.Asp140Tyr Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Asp179Tyr Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Asp227Glu Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Asp248Ala Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Asp248Asn Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Asp284Glu Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Asp314Gly Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Asp314Val Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Asp321Asn Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Asp321Gly Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Asp43Asn Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Asp63Glu Single submitter ⚠
p.Asp63His Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Cys105Ser Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Cys12Gly Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Cys163Tyr Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Gln119Arg Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Gln127Arg Single submitter hypertrophic cardiomyopathy 19
p.Gln226Glu Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Gln24His Single submitter ⚠
p.Gln262His Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Gln288Arg Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Gln306Lys Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Gln347Ter Single submitter hypertrophic cardiomyopathy 19
p.Gln377fs Single submitter hypertrophic cardiomyopathy 19
p.Gln377Glu Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Gln377Lys Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Gln67Arg Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Gln7His Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Glu100Lys Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Glu156Gln Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Glu156Lys Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Glu197Asp Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Glu208Ala Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Glu229Lys Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Glu303Lys Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Glu351Asp Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Glu360Asp Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Glu360Lys Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Glu361fs Single submitter hypertrophic cardiomyopathy 19
p.Glu372Lys Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Glu372Ter Single submitter hypertrophic cardiomyopathy 19
p.Glu61Lys Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Gly167fs Single submitter hypertrophic cardiomyopathy 19
p.Gly245Ser Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Gly269fs Single submitter hypertrophic cardiomyopathy 19
p.Gly329Asp Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Gly338Val Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Gly47Arg Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Gly65fs Single submitter hypertrophic cardiomyopathy 19
p.Gly88Glu Single submitter ⚠
p.His149Tyr Single submitter hypertrophic cardiomyopathy 19 ⚠
p.His170Tyr Single submitter hypertrophic cardiomyopathy 19 ⚠
p.His32Tyr Single submitter ⚠
p.His48Tyr Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Ile117Phe Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Ile117Val Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Ile11Val Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Ile136Thr Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Ile141Val Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Ile196Thr Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Ile297fs Single submitter
p.Ile346Val Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Ile368Ser Single submitter ⚠
p.Ile93Val Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Leu174Ile Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Leu174Pro Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Leu180Ile Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Leu205Val Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Leu233Pro Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Leu233Val Single submitter hypertrophic cardiomyopathy ⚠
p.Leu247fs Single submitter hypertrophic cardiomyopathy 19
p.Leu247Gln Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Leu256Phe Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Leu384Pro Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Leu8Arg Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Leu8Pro Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Leu91Val Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Lys102fs Single submitter hypertrophic cardiomyopathy 19
p.Lys111Glu Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Lys120Asn Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Lys151Arg Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Lys159Thr Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Lys207Glu Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Lys207Thr Single submitter ⚠
p.Lys258_Pro259delinsAlaArg Single submitter restrictive cardiomyopathy
p.Lys349Asn Single submitter ⚠
p.Lys353Asn Single submitter ⚠
p.Lys55Glu Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Lys60fs Single submitter hypertrophic cardiomyopathy 19
p.Lys98Arg Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Met1_Ala2del Single submitter hypertrophic cardiomyopathy 19
p.Met103Ile Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Met13Ile Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Met13Thr Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Met13Val Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Met1Leu Single submitter hypertrophic cardiomyopathy 19
p.Met1Val Single submitter hypertrophic cardiomyopathy 19
p.Phe23Ile Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Phe46Ser Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Pro134Ser Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Pro211Leu Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Pro83Leu Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Ser126Leu Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Ser214Trp Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Ser241Arg Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Ser309Thr Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Ser365Leu Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Ser53Leu Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Ser78fs Single submitter hypertrophic cardiomyopathy 19
p.Thr203Ile Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Thr209Lys Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Thr209Met Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Thr20Ala Single submitter ⚠
p.Thr237Ser Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Thr287Met Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Thr90Pro Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Thr96Ala Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Trp200Cys Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Trp200Ter Single submitter hypertrophic cardiomyopathy 19
p.Trp243Arg Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Trp243Ter Single submitter hypertrophic cardiomyopathy 19
p.Trp251Arg Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Tyr109Cys Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Tyr109His Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Tyr128Ter Single submitter hypertrophic cardiomyopathy 19
p.Tyr182Cys Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Tyr198Ter Single submitter
p.Tyr22Cys Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Tyr75Cys Single submitter ⚠
p.Tyr75Phe Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Val165Phe Single submitter ⚠
p.Val92Ile Single submitter hypertrophic cardiomyopathy 19 ⚠
p.Val92Phe Single submitter ⚠
p.Arg162Gly No assertion criteria hypertrophic cardiomyopathy 19 ⚠
p.Asn42Asp No assertion criteria CALR3-related disorder ⚠
p.Glu357fs No assertion criteria