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: rs199472902
rs199472902
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: rs199472902
rs199472902
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: rs199472902
rs199472902
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: rs199472902
rs199472902
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: rs199472902
rs199472902
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: rs199472902
rs199472902
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C3150943
Disease:
Long Qt Syndrome 2 		A 0.800 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: rs199472902
rs199472902
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: rs199472902
rs199472902
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: rs199472902
rs199472902
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: rs199472902
rs199472902
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: rs199472902
rs199472902
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: rs199472902
rs199472902
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: rs199472902
rs199472902
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: rs199472902
rs199472902
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: rs199472902
rs199472902
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: rs199472902
rs199472902
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C3150943
Disease:
Long Qt Syndrome 2 		A 0.800 GeneticVariation CLINVAR Survey of the coding region of the HERG gene in long QT syndrome reveals six novel mutations and an amino acid polymorphism with possible phenotypic effects. 10862094 2000
dbSNP: rs199472902
rs199472902
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: rs199472902
rs199472902
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: rs199472902
rs199472902
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: rs199472902
rs199472902
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C3150943
Disease:
Long Qt Syndrome 2 		0.800 GeneticVariation UNIPROT Multiple different missense mutations in the pore region of HERG in patients with long QT syndrome. 9544837 1998
dbSNP: rs199472902
rs199472902
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: rs199472902
rs199472902
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
dbSNP: rs199472902
rs199472902
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C3150943
Disease:
Long Qt Syndrome 2 		0.800 GeneticVariation UNIPROT Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome. 9024139 1997
dbSNP: rs199472902
rs199472902
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C3150943
Disease:
Long Qt Syndrome 2 		0.800 GeneticVariation UNIPROT Novel missense mutation in the cyclic nucleotide-binding domain of HERG causes long QT syndrome. 8914737 1996
dbSNP: rs199472902
rs199472902
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C3150943
Disease:
Long Qt Syndrome 2 		0.800 GeneticVariation UNIPROT Missense mutation in the pore region of HERG causes familial long QT syndrome. 8635257 1996