Disease: Long Qt Syndrome 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199472918
rs199472918
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C3150943
Disease:
Long Qt Syndrome 2 		0.800 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: rs199472918
rs199472918
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C3150943
Disease:
Long Qt Syndrome 2 		0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
dbSNP: rs199472918
rs199472918
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C3150943
Disease:
Long Qt Syndrome 2 		0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
dbSNP: rs199472918
rs199472918
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C3150943
Disease:
Long Qt Syndrome 2 		G 0.800 CausalMutation CLINVAR Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome. 22949429 2012
dbSNP: rs199472918
rs199472918
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C3150943
Disease:
Long Qt Syndrome 2 		0.800 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: rs199472918
rs199472918
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C3150943
Disease:
Long Qt Syndrome 2 		G 0.800 CausalMutation CLINVAR High prevalence of four long QT syndrome founder mutations in the Finnish population. 19160088 2009
dbSNP: rs199472918
rs199472918
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C3150943
Disease:
Long Qt Syndrome 2 		0.800 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: rs199472918
rs199472918
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C3150943
Disease:
Long Qt Syndrome 2 		0.800 GeneticVariation UNIPROT Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome. 16922724 2006
dbSNP: rs199472918
rs199472918
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C3150943
Disease:
Long Qt Syndrome 2 		0.800 GeneticVariation UNIPROT Mechanisms of pharmacological rescue of trafficking-defective hERG mutant channels in human long QT syndrome. 16361248 2006
dbSNP: rs199472918
rs199472918
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C3150943
Disease:
Long Qt Syndrome 2 		G 0.800 CausalMutation CLINVAR Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland. 15176425 2004
dbSNP: rs199472918
rs199472918
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C3150943
Disease:
Long Qt Syndrome 2 		0.800 GeneticVariation UNIPROT Clinical, genetic, and biophysical characterization of a homozygous HERG mutation causing severe neonatal long QT syndrome. 12621127 2003
dbSNP: rs199472918
rs199472918
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C3150943
Disease:
Long Qt Syndrome 2 		0.800 GeneticVariation UNIPROT KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population. 12442276 2002
dbSNP: rs199472918
rs199472918
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C3150943
Disease:
Long Qt Syndrome 2 		0.800 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: rs199472918
rs199472918
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C3150943
Disease:
Long Qt Syndrome 2 		0.800 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: rs199472918
rs199472918
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C3150943
Disease:
Long Qt Syndrome 2 		0.800 GeneticVariation UNIPROT Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. 10973849 2000
dbSNP: rs199472918
rs199472918
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C3150943
Disease:
Long Qt Syndrome 2 		0.800 GeneticVariation UNIPROT The dominant negative LQT2 mutation A561V reduces wild-type HERG expression. 10753933 2000
dbSNP: rs199472918
rs199472918
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C3150943
Disease:
Long Qt Syndrome 2 		G 0.800 CausalMutation CLINVAR Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. 10973849 2000
dbSNP: rs199472918
rs199472918
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C3150943
Disease:
Long Qt Syndrome 2 		G 0.800 CausalMutation CLINVAR Homozygosity for a HERG potassium channel mutation causes a severe form of long QT syndrome: identification of an apparent founder mutation in the Finns. 10841244 2000
dbSNP: rs199472918
rs199472918
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C3150943
Disease:
Long Qt Syndrome 2 		0.800 GeneticVariation UNIPROT Long QT syndrome with a high mortality rate caused by a novel G572R missense mutation in KCNH2. 10735633 2000
dbSNP: rs199472918
rs199472918
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C3150943
Disease:
Long Qt Syndrome 2 		0.800 GeneticVariation UNIPROT Characterization of a novel missense mutation in the pore of HERG in a patient with long QT syndrome. 10517660 1999
dbSNP: rs199472918
rs199472918
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C3150943
Disease:
Long Qt Syndrome 2 		G 0.800 CausalMutation CLINVAR Sinus node function and ventricular repolarization during exercise stress test in long QT syndrome patients with KvLQT1 and HERG potassium channel defects. 10483966 1999
dbSNP: rs199472918
rs199472918
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C3150943
Disease:
Long Qt Syndrome 2 		0.800 GeneticVariation UNIPROT Novel KCNQ1 and HERG missense mutations in Dutch long-QT families. 10220144 1999
dbSNP: rs199472918
rs199472918
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C3150943
Disease:
Long Qt Syndrome 2 		0.800 GeneticVariation UNIPROT Long QT syndrome-associated mutations in the Per-Arnt-Sim (PAS) domain of HERG potassium channels accelerate channel deactivation. 10187793 1999
dbSNP: rs199472918
rs199472918
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C3150943
Disease:
Long Qt Syndrome 2 		0.800 GeneticVariation UNIPROT Novel missense mutation (G601S) of HERG in a Japanese long QT syndrome family. 9452080 1998
dbSNP: rs199472918
rs199472918
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C3150943
Disease:
Long Qt Syndrome 2 		0.800 GeneticVariation UNIPROT Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1. 9693036 1998