Gene: KCNH2 ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199472936
rs199472936
KCNH2
0.830 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360

2017
dbSNP: rs199472936
rs199472936
KCNH2
0.830 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs199472936
rs199472936
KCNH2
0.830 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
dbSNP: rs199472936
rs199472936
KCNH2
0.830 GeneticVariation UNIPROT HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). 21810866

2011
dbSNP: rs199472936
rs199472936
KCNH2
0.830 GeneticVariation UNIPROT 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: rs199472936
rs199472936
KCNH2
0.830 GeneticVariation UNIPROT Mechanisms of pharmacological rescue of trafficking-defective hERG mutant channels in human long QT syndrome. 16361248

2006
dbSNP: rs199472936
rs199472936
KCNH2
0.830 GeneticVariation UNIPROT Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome. 16922724

2006
dbSNP: rs199472936
rs199472936
KCNH2
0.830 GeneticVariation UNIPROT Clinical, genetic, and biophysical characterization of a homozygous HERG mutation causing severe neonatal long QT syndrome. 12621127

2003
dbSNP: rs199472936
rs199472936
KCNH2
0.830 GeneticVariation UNIPROT KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population. 12442276

2002
dbSNP: rs199472936
rs199472936
KCNH2
0.830 GeneticVariation UNIPROT Characterization of a novel missense mutation E637K in the pore-S6 loop of HERG in a patient with long QT syndrome. 12062363

2002
dbSNP: rs199472936
rs199472936
KCNH2
0.830 GeneticVariation UNIPROT Bradycardia-induced long QT syndrome caused by a de novo missense mutation in the S2-S3 inner loop of HERG. 11170080

2001
dbSNP: rs199472936
rs199472936
KCNH2
0.830 GeneticVariation UNIPROT The dominant negative LQT2 mutation A561V reduces wild-type HERG expression. 10753933

2000
dbSNP: rs199472936
rs199472936
KCNH2
0.830 GeneticVariation UNIPROT Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. 10973849

2000
dbSNP: rs199472936
rs199472936
KCNH2
0.830 GeneticVariation UNIPROT Long QT syndrome with a high mortality rate caused by a novel G572R missense mutation in KCNH2. 10735633

2000
dbSNP: rs199472936
rs199472936
KCNH2
0.830 GeneticVariation UNIPROT Novel KCNQ1 and HERG missense mutations in Dutch long-QT families. 10220144

1999
dbSNP: rs199472936
rs199472936
KCNH2
0.830 GeneticVariation UNIPROT Characterization of a novel missense mutation in the pore of HERG in a patient with long QT syndrome. 10517660

1999
dbSNP: rs199472936
rs199472936
KCNH2
0.830 GeneticVariation UNIPROT Long QT syndrome-associated mutations in the Per-Arnt-Sim (PAS) domain of HERG potassium channels accelerate channel deactivation. 10187793

1999
dbSNP: rs199472936
rs199472936
KCNH2
0.830 GeneticVariation UNIPROT Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1. 9693036

1998
dbSNP: rs199472936
rs199472936
KCNH2
0.830 GeneticVariation UNIPROT Novel missense mutation (G601S) of HERG in a Japanese long QT syndrome family. 9452080

1998
dbSNP: rs199472936
rs199472936
KCNH2
0.830 GeneticVariation UNIPROT Multiple different missense mutations in the pore region of HERG in patients with long QT syndrome. 9544837

1998
dbSNP: rs199472936
rs199472936
KCNH2
0.830 GeneticVariation UNIPROT Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome. 9024139

1997
dbSNP: rs199472936
rs199472936
KCNH2
0.830 GeneticVariation UNIPROT Missense mutation in the pore region of HERG causes familial long QT syndrome. 8635257

1996
dbSNP: rs199472936
rs199472936
KCNH2
0.830 GeneticVariation UNIPROT Novel missense mutation in the cyclic nucleotide-binding domain of HERG causes long QT syndrome. 8914737

1996
dbSNP: rs199472936
rs199472936
KCNH2
0.830 GeneticVariation UNIPROT A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome. 7889573

1995
dbSNP: rs121912507
rs121912507
KCNH2
0.820 GeneticVariation UNIPROT Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. 19716085

2009