rs398124650, CALM2

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
LONG QT SYNDROME 15
CUI: C4015695
Disease: LONG QT SYNDROME 15
0.800 GeneticVariation UNIPROT Spectrum and Prevalence of CALM1-, CALM2-, and CALM3-Encoded Calmodulin Variants in Long QT Syndrome and Functional Characterization of a Novel Long QT Syndrome-Associated Calmodulin Missense Variant, E141G. 26969752 2016
LONG QT SYNDROME 15
CUI: C4015695
Disease: LONG QT SYNDROME 15
0.800 GeneticVariation UNIPROT Novel CPVT-Associated Calmodulin Mutation in CALM3 (CALM3-A103V) Activates Arrhythmogenic Ca Waves and Sparks. 27516456 2016
LONG QT SYNDROME 15
CUI: C4015695
Disease: LONG QT SYNDROME 15
0.800 GeneticVariation UNIPROT Arrhythmogenic calmodulin mutations impede activation of small-conductance calcium-activated potassium current. 27165696 2016
LONG QT SYNDROME 15
CUI: C4015695
Disease: LONG QT SYNDROME 15
0.800 GeneticVariation UNIPROT Distinctive malfunctions of calmodulin mutations associated with heart RyR2-mediated arrhythmic disease. 26164367 2015
LONG QT SYNDROME 15
CUI: C4015695
Disease: LONG QT SYNDROME 15
0.800 GeneticVariation UNIPROT Novel calmodulin mutations associated with congenital arrhythmia susceptibility. 24917665 2014
LONG QT SYNDROME 15
CUI: C4015695
Disease: LONG QT SYNDROME 15
0.800 GeneticVariation UNIPROT Calmodulin mutations associated with recurrent cardiac arrest in infants. 23388215 2013
LONG QT SYNDROME 15
CUI: C4015695
Disease: LONG QT SYNDROME 15
0.800 GeneticVariation CLINVAR
LONG QT SYNDROME 15
CUI: C4015695
Disease: LONG QT SYNDROME 15
0.800 CausalMutation CLINVAR
Congenital long QT syndrome
CUI: C1141890
Disease: Congenital long QT syndrome
0.010 GeneticVariation BEFREE We identified 5 novel de novo missense mutations in CALM2 in 3 subjects with LQTS (p.N98S, p.N98I, p.D134H) and 2 subjects with clinical features of both LQTS and CPVT (p.D132E, p.Q136P). 24917665 2014
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
CUI: C1631597
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
0.010 GeneticVariation BEFREE We identified 5 novel de novo missense mutations in CALM2 in 3 subjects with LQTS (p.N98S, p.N98I, p.D134H) and 2 subjects with clinical features of both LQTS and CPVT (p.D132E, p.Q136P). 24917665 2014