CALM1 — 177 ClinVar variants
All ClinVar germline CALM1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.
8 Pathogenic · 2 Pathogenic/Likely pathogenic · 7 Likely pathogenic · 2 Conflicting · 17 Benign · 5 Benign/Likely benign · 98 Likely benign · 38 Uncertain significance
Full CALM1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactionsAll CALM1 variants
Pathogenic 8
- p.Asp130Val Single submitter long QT syndrome 14
- p.Asp132Asn Single submitter long QT syndrome 14
- p.Asp132Gly Single submitter catecholaminergic polymorphic ventricular tachycardia 4
- p.Asp132Val Single submitter long QT syndrome 14
- p.Asp96Tyr Single submitter catecholaminergic polymorphic ventricular tachycardia 4
- p.Glu141Gly Single submitter long QT syndrome 14
- p.Glu141Val Single submitter long QT syndrome 14
- p.Phe142Leu Single submitter long QT syndrome 14
Pathogenic/Likely pathogenic 2
- p.Asn98Ser Multiple submitters Cardiovascular phenotype
- p.Asp130Gly Multiple submitters long QT syndrome 14
Likely pathogenic 7
- p.Glu140Val Multiple submitters CALM1-related disorder
- p.Asn54Ile Single submitter catecholaminergic polymorphic ventricular tachycardia 4
- p.Glu105Lys Single submitter
- p.Gly133Glu Single submitter catecholaminergic polymorphic ventricular tachycardia 4
- p.Gly133Val Single submitter long QT syndrome
- p.Phe90Leu Single submitter long QT syndrome 14
- p.Thr30Pro Single submitter
Conflicting classifications of pathogenicity 2
Benign 17
- c.179-108T>C Multiple submitters
- c.179-293C>T Multiple submitters
- c.34+29G>A Multiple submitters
- c.4-129A>G Multiple submitters
- c.4-63C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 4
- c.-372G>T Multiple submitters
- c.-86G>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 4
- c.178+266_178+269del Single submitter
- c.178+269dup Single submitter
- c.179-9dup Single submitter long QT syndrome 14
- c.3+293C>T Single submitter
- c.3+298G>T Single submitter
- c.3+8G>A Single submitter long QT syndrome 14
- c.35-289_35-288del Single submitter
- c.4-15del Single submitter long QT syndrome 14
- c.-390C>T Single submitter
- c.-540G>T Single submitter
Benign/Likely benign 5
- c.178+18A>G Multiple submitters long QT syndrome 14
- c.179-4C>T Multiple submitters long QT syndrome 14
- c.4-10C>G Multiple submitters long QT syndrome 14
- p.His108= Multiple submitters Cardiovascular phenotype
- p.Ile101= Multiple submitters Cardiovascular phenotype
Likely benign 98
- c.179-15del Multiple submitters catecholaminergic polymorphic ventricular tachycardia 4
- c.179-88G>A Multiple submitters
- c.285+168C>T Multiple submitters
- c.34+19G>T Multiple submitters long QT syndrome 14
- c.35-13del Multiple submitters catecholaminergic polymorphic ventricular tachycardia 4
- c.421+7_421+10del Multiple submitters catecholaminergic polymorphic ventricular tachycardia 4
- c.422-16dup Multiple submitters long QT syndrome 14
- c.-106+211G>C Multiple submitters
- c.-168C>T Multiple submitters
- p.Ala103= Multiple submitters catecholaminergic polymorphic ventricular tachycardia 4
- p.Arg75= Multiple submitters Cardiovascular phenotype
- p.Arg91= Multiple submitters Cardiovascular phenotype
- p.Asn61= Multiple submitters Cardiovascular phenotype
- p.Asp134= Multiple submitters Cardiovascular phenotype
- p.Asp23= Multiple submitters Cardiovascular phenotype
- p.Glu88= Multiple submitters Cardiovascular phenotype
- p.Gly24= Multiple submitters Cardiovascular phenotype
- p.Gly26= Multiple submitters Cardiovascular phenotype
- p.Ile28= Multiple submitters Cardiovascular phenotype
- p.Lys78= Multiple submitters Cardiovascular phenotype
- p.Phe142= Multiple submitters Cardiovascular phenotype
- p.Pro67= Multiple submitters catecholaminergic polymorphic ventricular tachycardia 4
- p.Thr71= Multiple submitters catecholaminergic polymorphic ventricular tachycardia 4
- p.Val137= Multiple submitters catecholaminergic polymorphic ventricular tachycardia 4
- c.178+11dup Single submitter long QT syndrome 14
- c.178+16C>A Single submitter long QT syndrome 14
- c.178+20G>T Single submitter long QT syndrome 14
- c.178+269del Single submitter
- c.179-14T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 4
- c.179-17T>G Single submitter long QT syndrome 14
- c.285+110G>A Single submitter
- c.285+12T>A Single submitter long QT syndrome 14
- c.285+15A>G Single submitter catecholaminergic polymorphic ventricular tachycardia 4
- c.285+17A>G Single submitter long QT syndrome 14
- c.285+20G>T Single submitter catecholaminergic polymorphic ventricular tachycardia 4
- c.286-141A>C Single submitter
- c.286-18A>G Single submitter long QT syndrome 14
- c.286-20C>T Single submitter long QT syndrome 14
- c.286-9T>C Single submitter long QT syndrome 14
- c.3+10G>C Single submitter long QT syndrome 14
- c.3+13T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 4
- c.3+15G>A Single submitter long QT syndrome 14
- c.3+331C>A Single submitter
- c.34+12A>C Single submitter long QT syndrome 14
- c.34+12A>G Single submitter catecholaminergic polymorphic ventricular tachycardia 4
- c.34+16C>T Single submitter long QT syndrome 14
- c.34+18A>G Single submitter long QT syndrome 14
- c.35-11T>A Single submitter long QT syndrome 14
- c.35-13C>T Single submitter long QT syndrome 14
- c.35-14A>G Single submitter catecholaminergic polymorphic ventricular tachycardia 4
- c.35-19G>A Single submitter catecholaminergic polymorphic ventricular tachycardia 4
- c.35-20G>A Single submitter long QT syndrome 14
- c.35-20G>T Single submitter long QT syndrome 14
- c.35-290_35-288del Single submitter
- c.4-6A>G Single submitter long QT syndrome 14
- c.4-6A>T Single submitter catecholaminergic polymorphic ventricular tachycardia 4
- c.4-7C>T Single submitter catecholaminergic polymorphic ventricular tachycardia 4
- c.4-9T>C Single submitter long QT syndrome 14
- c.421+10A>G Single submitter catecholaminergic polymorphic ventricular tachycardia 4
- c.421+16C>G Single submitter long QT syndrome 14
- c.421+6dup Single submitter catecholaminergic polymorphic ventricular tachycardia 4
- c.421+8_421+9del Single submitter long QT syndrome 14
- c.422-10G>A Single submitter long QT syndrome 14
- c.422-15T>C Single submitter long QT syndrome 14
- c.422-16_422-12del Single submitter long QT syndrome 14
- c.422-16A>G Single submitter long QT syndrome 14
- c.422-19A>G Single submitter long QT syndrome 14
- c.422-20T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 4
- c.422-8C>T Single submitter long QT syndrome 14
- c.-123G>T Single submitter
- c.-161C>T Single submitter
- c.-32C>T Single submitter
- c.-37_-36dup Single submitter
- p.Ala2= Single submitter Cardiovascular phenotype
- p.Ala47= Single submitter long QT syndrome 14
- p.Ala89= Single submitter catecholaminergic polymorphic ventricular tachycardia 4
- p.Asn112= Single submitter long QT syndrome 14
- p.Asn138= Single submitter Cardiovascular phenotype
- p.Asp130= Single submitter long QT syndrome 14
- p.Asp79= Single submitter long QT syndrome 14
- p.Asp81= Single submitter long QT syndrome 14
- p.Gln50= Single submitter long QT syndrome 14
- p.Gln9= Single submitter long QT syndrome 14
- p.Gly135= Single submitter long QT syndrome 14
- p.Gly62= Single submitter Cardiovascular phenotype
- p.Ile86= Single submitter long QT syndrome 14
- p.Leu106= Single submitter
- p.Leu19= Single submitter Cardiovascular phenotype
- p.Leu40= Single submitter catecholaminergic polymorphic ventricular tachycardia 4
- p.Phe66= Single submitter long QT syndrome 14
- p.Thr29= Single submitter long QT syndrome 14
- p.Thr30= Single submitter long QT syndrome 14
- p.Thr6= Single submitter Cardiovascular phenotype
- p.Thr80= Single submitter long QT syndrome 14
- p.Tyr100= Single submitter long QT syndrome 14
- p.Tyr139= Single submitter long QT syndrome 14
- p.Val109= Single submitter long QT syndrome 14
- p.Val36= Single submitter catecholaminergic polymorphic ventricular tachycardia 4
Uncertain significance 38
- c.4-3T>C Multiple submitters Cardiovascular phenotype
- p.Arg87His Multiple submitters Cardiovascular phenotype
- p.Glu120Lys Multiple submitters catecholaminergic polymorphic ventricular tachycardia 4
- c.178+4A>C Single submitter long QT syndrome 14
- c.179-3G>A Single submitter Cardiovascular phenotype
- c.35-12_35-11delinsCC Single submitter long QT syndrome 14
- c.35-44_77dup Single submitter long QT syndrome 14
- c.422-6T>G Single submitter
- p.Ala58Thr Single submitter
- p.Arg107Cys Single submitter
- p.Arg91Gln Single submitter
- p.Asn98Ile Single submitter long QT syndrome 14
- p.Asp134Glu Single submitter long QT syndrome 14
- p.Asp21Gly Single submitter Cardiovascular phenotype
- p.Asp23Tyr Single submitter
- p.Asp94His Single submitter long QT syndrome 14
- p.Asp96Gly Single submitter
- p.Glu128Gln Single submitter
- p.Glu140Ala Single submitter
- p.Gly133Ala Single submitter long QT syndrome 14
- p.Gly24Ser Single submitter catecholaminergic polymorphic ventricular tachycardia 4
- p.His108Asp Single submitter
- p.Ile101Val Single submitter long QT syndrome 14
- p.Ile10Val Single submitter
- p.Ile131Thr Single submitter Cardiovascular phenotype
- p.Ile53Val Single submitter long QT syndrome 14
- p.Leu49del Single submitter
- p.Leu70Phe Single submitter
- p.Met110Leu Single submitter long QT syndrome 14
- p.Met52Val Single submitter long QT syndrome 14
- p.Pro67Ser Single submitter long QT syndrome 14
- p.Thr45Ala Single submitter long QT syndrome 14
- p.Thr80_Asp81del Single submitter Cardiovascular phenotype
- p.Tyr100Cys Single submitter
- p.Val143Ile Single submitter long QT syndrome 14
- p.Val36Ala Single submitter Cardiovascular phenotype
- p.Val36Leu Single submitter long QT syndrome 14
- p.Val92Ala Single submitter