Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060502607
rs1060502607
CALM3
C 0.700 CausalMutation CLINVAR 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
dbSNP: rs17215500
rs17215500
KCNQ1
T 0.700 CausalMutation CLINVAR Screen-based identification and validation of four new ion channels as regulators of renal ciliogenesis. 26546361

2015
dbSNP: rs1060502607
rs1060502607
CALM3
C 0.700 CausalMutation CLINVAR Divergent regulation of ryanodine receptor 2 calcium release channels by arrhythmogenic human calmodulin missense mutants. 24563457

2014
dbSNP: rs1060502607
rs1060502607
CALM3
C 0.700 CausalMutation CLINVAR Arrhythmogenic calmodulin mutations disrupt intracellular cardiomyocyte Ca2+ regulation by distinct mechanisms. 24958779

2014
dbSNP: rs1060502607
rs1060502607
CALM3
C 0.700 CausalMutation CLINVAR Calmodulin mutations associated with long QT syndrome prevent inactivation of cardiac L-type Ca(2+) currents and promote proarrhythmic behavior in ventricular myocytes. 24816216

2014
dbSNP: rs17215500
rs17215500
KCNQ1
T 0.700 CausalMutation CLINVAR Cellular mechanisms underlying the increased disease severity seen for patients with long QT syndrome caused by compound mutations in KCNQ1. 24912595

2014
dbSNP: rs17215500
rs17215500
KCNQ1
T 0.700 CausalMutation CLINVAR Phenotype, origin and estimated prevalence of a common long QT syndrome mutation: a clinical, genealogical and molecular genetics study including Swedish R518X/KCNQ1 families. 24552659

2014
dbSNP: rs1060502607
rs1060502607
CALM3
C 0.700 CausalMutation CLINVAR Calmodulin mutations associated with recurrent cardiac arrest in infants. 23388215

2013
dbSNP: rs199472696
rs199472696
KCNQ1
T 0.700 CausalMutation CLINVAR Prevalence and potential genetic determinants of sensorineural deafness in KCNQ1 homozygosity and compound heterozygosity. 23392653

2013
dbSNP: rs786204395
rs786204395
PKP2
TTTC 0.700 GeneticVariation CLINVAR Desmin mutations and arrhythmogenic right ventricular cardiomyopathy. 23168288

2013
dbSNP: rs786204395
rs786204395
PKP2
TTTC 0.700 GeneticVariation CLINVAR Compound and digenic heterozygosity predicts lifetime arrhythmic outcome and sudden cardiac death in desmosomal gene-related arrhythmogenic right ventricular cardiomyopathy. 24070718

2013
dbSNP: rs17215500
rs17215500
KCNQ1
T 0.700 CausalMutation CLINVAR Prevalence, mutation spectrum, and cardiac phenotype of the Jervell and Lange-Nielsen syndrome in Sweden. 22539601

2012
dbSNP: rs17215500
rs17215500
KCNQ1
T 0.700 CausalMutation CLINVAR Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing. 23098067

2012
dbSNP: rs17215500
rs17215500
KCNQ1
T 0.700 CausalMutation CLINVAR Readthrough of long-QT syndrome type 1 nonsense mutations rescues function but alters the biophysical properties of the channel. 22309168

2012
dbSNP: rs397508111
rs397508111
KCNQ1
A 0.700 CausalMutation CLINVAR End-recovery QTc: a useful metric for assessing genetic variants of unknown significance in long-QT syndrome. 22429796

2012
dbSNP: rs137854601
rs137854601
SCN5A
T 0.700 CausalMutation CLINVAR Identification of six novel SCN5A mutations in Japanese patients with Brugada syndrome. 21321465

2011
dbSNP: rs397508111
rs397508111
KCNQ1
A 0.700 CausalMutation CLINVAR Recurrent and Founder Mutations in the Netherlands: the Long-QT Syndrome. 21350584

2011
dbSNP: rs199472696
rs199472696
KCNQ1
T 0.700 CausalMutation CLINVAR PKA and PKC partially rescue long QT type 1 phenotype by restoring channel-PIP2 interactions. 19934648

2010
dbSNP: rs199473073
rs199473073
SCN5A
G 0.700 GeneticVariation CLINVAR A homozygous SCN5A mutation in a severe, recessive type of cardiac conduction disease. 20564468

2010
dbSNP: rs786204395
rs786204395
PKP2
TTTC 0.700 GeneticVariation CLINVAR Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy. 20152563

2010
dbSNP: rs397508112
rs397508112
KCNQ1
C 0.700 GeneticVariation CLINVAR Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. 19716085

2009
dbSNP: rs794728565
rs794728565
KCNQ1
T 0.700 GeneticVariation CLINVAR Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. 19716085

2009
dbSNP: rs137854601
rs137854601
SCN5A
T 0.700 CausalMutation CLINVAR Sudden arrhythmic death syndrome: familial evaluation identifies inheritable heart disease in the majority of families. 18508782

2008
dbSNP: rs137854601
rs137854601
SCN5A
T 0.700 CausalMutation CLINVAR Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 15840476

2005
dbSNP: rs199472696
rs199472696
KCNQ1
T 0.700 CausalMutation CLINVAR Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 15840476

2005