CALM2 — 218 ClinVar variants
All ClinVar germline CALM2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.
10 Pathogenic · 3 Pathogenic/Likely pathogenic · 7 Likely pathogenic · 4 Conflicting · 13 Benign · 4 Benign/Likely benign · 113 Likely benign · 64 Uncertain significance
Full CALM2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactionsAll CALM2 variants
Pathogenic 10
- p.Asn98Ser Multiple submitters Cardiovascular phenotype
- p.Asp96Val Multiple submitters long QT syndrome 1
- p.Asn138Lys Single submitter long QT syndrome 15
- p.Asn98Ile Single submitter long QT syndrome 1
- p.Asp130Asn Single submitter long QT syndrome 1
- p.Asp130Gly Single submitter long QT syndrome 1
- p.Asp132Glu Single submitter long QT syndrome 15
- p.Asp132Gly Single submitter long QT syndrome 1
- p.Asp132Tyr Single submitter long QT syndrome 1
- p.Gly114Arg No assertion criteria SUDDEN INFANT DEATH SYNDROME
Pathogenic/Likely pathogenic 3
- p.Asp96Tyr Multiple submitters long QT syndrome 15
- p.Asp134His No assertion criteria long QT syndrome 15
- p.Gln136Pro No assertion criteria long QT syndrome 15
Likely pathogenic 7
- p.Asp134Asn Multiple submitters long QT syndrome 15
- p.Met110Leu Multiple submitters Cardiovascular phenotype
- p.Glu105Gln Single submitter long QT syndrome 15
- p.Glu141Asp Single submitter long QT syndrome 1
- p.Gly133Ser Single submitter long QT syndrome 1
- p.Met145Arg Single submitter long QT syndrome 1
- p.Phe90Leu Single submitter long QT syndrome 1
Conflicting classifications of pathogenicity 4
- c.285+4C>T Single submitter long QT syndrome 1
- c.421+3A>G Single submitter Cardiovascular phenotype
- p.Ala11= Single submitter Cardiovascular phenotype
- p.Asp3Asn Single submitter Cardiovascular phenotype
Benign 13
- c.285+83T>G Multiple submitters
- c.3+197C>A Multiple submitters
- c.35-225G>A Multiple submitters
- c.35-257A>G Multiple submitters
- c.4-1512C>T Multiple submitters
- c.4-1698T>C Multiple submitters
- c.421+18A>G Multiple submitters long QT syndrome 1
- c.421+96T>C Multiple submitters long QT syndrome 15
- c.421+97G>C Multiple submitters long QT syndrome 15
- c.-106+189C>G Multiple submitters
- c.286-6del Single submitter long QT syndrome 1
- c.421+92_421+94dup Single submitter
- c.421+96_421+97del Single submitter
Benign/Likely benign 4
- c.285+16G>C Multiple submitters long QT syndrome 1
- c.286-18_286-17del Multiple submitters long QT syndrome 15
- p.Asp81= Multiple submitters long QT syndrome 1
- p.Thr80= Multiple submitters Cardiovascular phenotype
Likely benign 113
- c.179-9C>T Multiple submitters long QT syndrome 1
- c.285+16G>T Multiple submitters long QT syndrome 15
- c.35-41A>G Multiple submitters
- c.4-232G>A Multiple submitters
- c.4-8C>T Multiple submitters long QT syndrome 1
- c.421+10T>G Multiple submitters long QT syndrome 1
- c.421+75C>G Multiple submitters
- c.422-15CTT[2] Multiple submitters long QT syndrome 1
- p.Asn112= Multiple submitters long QT syndrome 1
- p.Glu55= Multiple submitters Cardiovascular phenotype
- p.Gly97= Multiple submitters Cardiovascular phenotype
- p.Lys116= Multiple submitters Cardiovascular phenotype
- p.Thr35= Multiple submitters long QT syndrome 1
- c.178+10C>T Single submitter long QT syndrome 1
- c.178+10del Single submitter long QT syndrome 1
- c.178+12A>G Single submitter long QT syndrome 1
- c.178+15T>C Single submitter
- c.178+17G>A Single submitter long QT syndrome 1
- c.178+7C>G Single submitter long QT syndrome 1
- c.178+9T>A Single submitter long QT syndrome 1
- c.179-13T>C Single submitter long QT syndrome 1
- c.179-15A>G Single submitter long QT syndrome 1
- c.179-15A>T Single submitter long QT syndrome 1
- c.179-29_179-10del Single submitter long QT syndrome 1
- c.179-8C>G Single submitter long QT syndrome 1
- c.285+14_285+20del Single submitter long QT syndrome 1
- c.285+17A>T Single submitter long QT syndrome 1
- c.285+19A>C Single submitter
- c.285+9A>G Single submitter long QT syndrome 1
- c.286-10T>A Single submitter long QT syndrome 1
- c.286-13A>C Single submitter long QT syndrome 1
- c.286-14A>G Single submitter long QT syndrome 1
- c.286-14A>T Single submitter long QT syndrome 1
- c.286-16C>A Single submitter long QT syndrome 1
- c.286-18T>C Single submitter long QT syndrome 1
- c.286-19A>G Single submitter long QT syndrome 1
- c.286-4C>G Single submitter long QT syndrome 1
- c.286-4C>T Single submitter long QT syndrome 1
- c.3+10T>C Single submitter
- c.3+11C>G Single submitter long QT syndrome 1
- c.3+12G>A Single submitter long QT syndrome 1
- c.3+13C>T Single submitter long QT syndrome 1
- c.3+145C>T Single submitter
- c.3+15G>A Single submitter long QT syndrome 1
- c.3+17G>C Single submitter long QT syndrome 1
- c.3+18C>G Single submitter long QT syndrome 1
- c.3+20G>T Single submitter long QT syndrome 1
- c.3+9_3+18del Single submitter long QT syndrome 1
- c.3+9A>C Single submitter long QT syndrome 1
- c.34+12_34+13delinsCT Single submitter long QT syndrome 1
- c.34+121_34+122del Single submitter
- c.34+16C>T Single submitter long QT syndrome 1
- c.34+17T>C Single submitter long QT syndrome 1
- c.34+19G>T Single submitter long QT syndrome 1
- c.35-10_35-7del Single submitter long QT syndrome 1
- c.35-12T>C Single submitter long QT syndrome 1
- c.35-14T>C Single submitter long QT syndrome 1
- c.35-15C>G Single submitter long QT syndrome 1
- c.35-31G>A Single submitter
- c.4-10C>T Single submitter long QT syndrome 1
- c.4-15T>C Single submitter long QT syndrome 1
- c.4-1740C>A Single submitter
- c.4-1787C>G Single submitter
- c.4-17C>G Single submitter long QT syndrome 1
- c.4-19C>A Single submitter long QT syndrome 1
- c.4-5T>C Single submitter long QT syndrome 1
- c.4-8dup Single submitter long QT syndrome 1
- c.421+11C>T Single submitter long QT syndrome 1
- c.421+13G>A Single submitter long QT syndrome 1
- c.421+146A>G Single submitter
- c.421+19C>T Single submitter long QT syndrome 1
- c.421+8T>C Single submitter long QT syndrome 1
- c.422-12C>T Single submitter long QT syndrome 1
- c.422-12dup Single submitter long QT syndrome 1
- c.422-13del Single submitter long QT syndrome 1
- c.422-15C>T Single submitter long QT syndrome 1
- c.422-17T>C Single submitter long QT syndrome 1
- c.422-20G>T Single submitter long QT syndrome 1
- c.422-43C>T Single submitter
- c.422-9C>T Single submitter long QT syndrome 1
- c.422-9del Single submitter long QT syndrome 1
- c.-106+96G>A Single submitter
- c.-11G>A Single submitter
- c.-16C>T Single submitter
- c.-181A>C Single submitter
- c.-186A>G Single submitter
- c.-30C>A Single submitter
- c.-30C>T Single submitter
- c.-33G>A Single submitter
- c.-46T>G Single submitter
- c.-80G>A Single submitter
- p.Ala148= Single submitter Cardiovascular phenotype
- p.Arg87= Single submitter long QT syndrome 1
- p.Asp134= Single submitter long QT syndrome 1
- p.Asp21= Single submitter long QT syndrome 1
- p.Asp94= Single submitter long QT syndrome 1
- p.Gln144= Single submitter long QT syndrome 1
- p.Glu105= Single submitter Cardiovascular phenotype
- p.Glu68= Single submitter Cardiovascular phenotype
- p.Glu7= Single submitter Cardiovascular phenotype
- p.Glu83= Single submitter long QT syndrome 1
- p.Gly114= Single submitter long QT syndrome 1
- p.Gly41= Single submitter long QT syndrome 1
- p.Gly5= Single submitter
- p.Gly62= Single submitter long QT syndrome 1
- p.Leu19= Single submitter long QT syndrome 1
- p.Phe66= Single submitter Cardiovascular phenotype
- p.Thr27= Single submitter Cardiovascular phenotype
- p.Tyr139= Single submitter long QT syndrome 1
- p.Val137= Single submitter long QT syndrome 1
- p.Val143= Single submitter long QT syndrome 1
- p.Val56= Single submitter Cardiovascular phenotype
- c.4-1666C>T No assertion criteria CALM2-related disorder
Uncertain significance 64
- c.285+5G>A Multiple submitters long QT syndrome 1
- c.-2G>C Multiple submitters Cardiovascular phenotype
- c.-4C>T Multiple submitters Cardiovascular phenotype
- p.Ala58Pro Multiple submitters long QT syndrome 1
- p.Arg107Cys Multiple submitters Cardiovascular phenotype
- p.Glu140= Multiple submitters Cardiovascular phenotype
- p.Thr35Ile Multiple submitters long QT syndrome 1
- p.Tyr100Cys Multiple submitters long QT syndrome 1
- c.178+4A>T Single submitter long QT syndrome 1
- c.285+3A>G Single submitter long QT syndrome 1
- c.3+12_3+13delinsTT Single submitter long QT syndrome 1
- c.34+5G>C Single submitter long QT syndrome 1
- c.35-1_35del Single submitter
- c.4-1651A>G Single submitter
- c.4-4G>A Single submitter Cardiovascular phenotype
- c.421+4A>C Single submitter long QT syndrome 1
- c.422-10T>A Single submitter long QT syndrome 1
- c.422-10T>C Single submitter long QT syndrome 1
- c.-106+315G>T Single submitter
- c.-106+327G>C Single submitter
- c.-106+332C>T Single submitter
- c.-1C>T Single submitter Cardiovascular phenotype
- c.-50G>C Single submitter
- c.-56G>A Single submitter long QT syndrome 15
- c.-5G>A Single submitter Cardiovascular phenotype
- c.-5G>C Single submitter Cardiovascular phenotype
- c.-9G>A Single submitter
- c.-9G>C Single submitter long QT syndrome
- p.Ala103Thr Single submitter long QT syndrome 1
- p.Ala103Val Single submitter long QT syndrome 1
- p.Ala104Thr Single submitter long QT syndrome 1
- p.Ala104Val Single submitter Cardiovascular phenotype
- p.Ala148fs Single submitter long QT syndrome 1
- p.Arg127Gly Single submitter long QT syndrome 1
- p.Arg3His Single submitter long QT syndrome 15
- p.Arg91Cys Single submitter long QT syndrome 1
- p.Asn138His Single submitter
- p.Asn61Ser Single submitter long QT syndrome 1
- p.Asp23Gly Single submitter Cardiovascular phenotype
- p.Asp3Glu Single submitter long QT syndrome 1
- p.Glu121del Single submitter long QT syndrome 1
- p.Glu124Ala Single submitter long QT syndrome 1
- p.Glu46Lys Single submitter CALM2-related disorder
- p.Glu68Ala Single submitter long QT syndrome 1
- p.Glu83Gly Single submitter Cardiovascular phenotype
- p.Glu83Lys Single submitter long QT syndrome 1
- p.Glu88Ala Single submitter long QT syndrome 1
- p.Gly41Ala Single submitter long QT syndrome 1
- p.Ile28Leu Single submitter Cardiovascular phenotype
- p.Ile53Val Single submitter long QT syndrome 1
- p.Leu117Ser Single submitter Inborn genetic diseases
- p.Lys14Arg Single submitter long QT syndrome 1
- p.Lys31Glu Single submitter long QT syndrome 1
- p.Met72Val Single submitter Cardiovascular phenotype
- p.Pro44Arg Single submitter Cardiovascular phenotype
- p.Pro44Ser Single submitter Cardiovascular phenotype
- p.Ser18= Single submitter long QT syndrome 1
- p.Thr27Ser Single submitter Cardiovascular phenotype
- p.Thr29Ala Single submitter long QT syndrome 1
- p.Thr35Asn Single submitter long QT syndrome 15
- p.Thr6Ser Single submitter long QT syndrome 1
- p.Tyr139Ter Single submitter long QT syndrome 1
- p.Val36Ile Single submitter long QT syndrome 1
- p.Arg91Leu No assertion criteria CALM2-related disorder