Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199473538
rs199473538
KCNH2
A 0.700 GeneticVariation CLINVAR Mutation and gender-specific risk in type 2 long QT syndrome: implications for risk stratification for life-threatening cardiac events in patients with long QT syndrome. 21440677

2011
dbSNP: rs199473538
rs199473538
KCNH2
A 0.700 GeneticVariation CLINVAR Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. 26669661

2016
dbSNP: rs199473538
rs199473538
KCNH2
A 0.700 GeneticVariation CLINVAR Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. 10973849

2000
dbSNP: rs199473538
rs199473538
KCNH2
A 0.700 GeneticVariation CLINVAR The binding site for channel blockers that rescue misprocessed human long QT syndrome type 2 ether-a-gogo-related gene (HERG) mutations. 11741928

2002
dbSNP: rs199473538
rs199473538
KCNH2
A 0.700 GeneticVariation CLINVAR The enigmatic cytoplasmic regions of KCNH channels. 25158096

2015
dbSNP: rs199473538
rs199473538
KCNH2
A 0.700 GeneticVariation CLINVAR An in vivo cardiac assay to determine the functional consequences of putative long QT syndrome mutations. 23303164

2013
dbSNP: rs199473538
rs199473538
KCNH2
A 0.700 GeneticVariation CLINVAR D85N, a KCNE1 polymorphism, is a disease-causing gene variant in long QT syndrome. 19695459

2009
dbSNP: rs769505732
rs769505732
KCNH2
0.020 GeneticVariation BEFREE The genetic spectrum of LQTS in 44 South African cLQTS patients (23 known to carry the South African founder mutation p.A341V in KCNQ1) was established by screening for mutations in the coding regions of KCNQ1, KCNH2, KCNE1, KCNE2 and SCN5A, the most frequently implicated cLQTS-causing genes (five-gene screening). 24217263

2013
dbSNP: rs769505732
rs769505732
KCNH2
0.020 GeneticVariation BEFREE With this method, we identified the mutation(s) in all four patients with congenital LQTS (KCNQ1 A341V, KCNH2 N633D, KCNH2 2768Cdel and KCNE1 K70 N Y81C double mutations). 16155735

2005
dbSNP: rs1805123
rs1805123
KCNH2
0.010 GeneticVariation BEFREE KCNH2-K897T is a genetic modifier of latent congenital long-QT syndrome. 16116052

2005
dbSNP: rs199472936
rs199472936
KCNH2
0.010 GeneticVariation BEFREE We recently reported a novel missense mutation of HERG (G601S) in an LQTS family that we have characterized in the present work. 10226095

1999
dbSNP: rs199472944
rs199472944
KCNH2
0.010 GeneticVariation BEFREE Here we report the development of a patient/disease-specific human iPSC line from a patient with type-2 LQTS (which is due to the A614V missense mutation in the KCNH2 gene). 21240260

2011
dbSNP: rs199472960
rs199472960
KCNH2
0.010 GeneticVariation BEFREE We studied the electrophysiological, glycosylation, trafficking and assembly properties of three novel KCNH2 mutations identified in Taiwanese patients with LQTS (p.N633D, p.R744fs, and p.P923fs). 18593567

2008
dbSNP: rs199473507
rs199473507
KCNH2
0.010 GeneticVariation BEFREE With this method, we identified the mutation(s) in all four patients with congenital LQTS (KCNQ1 A341V, KCNH2 N633D, KCNH2 2768Cdel and KCNE1 K70 N Y81C double mutations). 16155735

2005
dbSNP: rs199473522
rs199473522
KCNH2
0.010 GeneticVariation BEFREE We have recently identified a missense mutation, G604S, in the human ether-a-go-go related gene (hERG) that results in a malignant phenotype in a full pedigree of a Chinese congenital long QT syndrome (LQTS) family. 18386051

2008
dbSNP: rs767910122
rs767910122
KCNH2
0.010 GeneticVariation BEFREE KCNH2-K897T is a genetic modifier of latent congenital long-QT syndrome. 16116052

2005
dbSNP: rs794728448
rs794728448
KCNH2
0.010 GeneticVariation BEFREE KCNH2-K897T is a genetic modifier of latent congenital long-QT syndrome. 16116052

2005
dbSNP: rs120074186
rs120074186
KCNQ1
A 0.700 CausalMutation CLINVAR KCNQ1 mutations in patients with a family history of lethal cardiac arrhythmias and sudden death. 12702160

2003
dbSNP: rs12720458
rs12720458
KCNQ1
G 0.700 GeneticVariation CLINVAR Images in cardiovascular medicine. Himalayan T waves in the congenital long-QT syndrome. 15781747

2005
dbSNP: rs12720458
rs12720458
KCNQ1
G 0.700 GeneticVariation CLINVAR Prevalence and potential genetic determinants of sensorineural deafness in KCNQ1 homozygosity and compound heterozygosity. 23392653

2013
dbSNP: rs12720458
rs12720458
KCNQ1
G 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: rs12720458
rs12720458
KCNQ1
G 0.700 GeneticVariation CLINVAR Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 15840476

2005
dbSNP: rs12720458
rs12720458
KCNQ1
G 0.700 GeneticVariation CLINVAR Screen-based identification and validation of four new ion channels as regulators of renal ciliogenesis. 26546361

2015
dbSNP: rs12720458
rs12720458
KCNQ1
G 0.700 GeneticVariation CLINVAR Aggregate penetrance of genomic variants for actionable disorders in European and African Americans. 27831900

2016
dbSNP: rs12720458
rs12720458
KCNQ1
G 0.700 GeneticVariation CLINVAR Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. 19841300

2009