Gene: SCN5A ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199473282
rs199473282
SCN5A
A 0.740 GeneticVariation CLINVAR Accelerated inactivation in a mutant Na(+) channel associated with idiopathic ventricular fibrillation. 11123251

2001
dbSNP: rs199473282
rs199473282
SCN5A
A 0.740 GeneticVariation CLINVAR An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. 20129283

2010
dbSNP: rs199473282
rs199473282
SCN5A
A 0.740 GeneticVariation CLINVAR Value of electrocardiographic parameters and ajmaline test in the diagnosis of Brugada syndrome caused by SCN5A mutations. 15520322

2004
dbSNP: rs199473282
rs199473282
SCN5A
A 0.740 GeneticVariation CLINVAR The biophysical properties of the SCN5A mutation T1620M associated with Brugada syndrome were examined for defects in intermediate inactivation (I:(M)), a gating process in Na(+) channels with kinetic features intermediate between fast and slow inactivation. 11029409

2000
dbSNP: rs199473282
rs199473282
SCN5A
A 0.740 GeneticVariation CLINVAR A mutant cardiac sodium channel with multiple biophysical defects associated with overlapping clinical features of Brugada syndrome and cardiac conduction disease. 11827685

2002
dbSNP: rs199473282
rs199473282
SCN5A
A 0.740 GeneticVariation CLINVAR Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent. 10532948

1999
dbSNP: rs199473282
rs199473282
SCN5A
A 0.740 GeneticVariation CLINVAR Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. 9521325

1998
dbSNP: rs199473282
rs199473282
SCN5A
A 0.740 GeneticVariation CLINVAR Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics. 23785128

2013
dbSNP: rs199473282
rs199473282
SCN5A
A 0.740 GeneticVariation CLINVAR Cardiac Na(+) channel dysfunction in Brugada syndrome is aggravated by beta(1)-subunit. 10618304

2000
dbSNP: rs199473282
rs199473282
SCN5A
A 0.740 GeneticVariation CLINVAR UniProt: a hub for protein information. 25348405

2015
dbSNP: rs137854611
rs137854611
SCN5A
A 0.710 GeneticVariation CLINVAR

dbSNP: rs199473220
rs199473220
SCN5A
A 0.710 GeneticVariation CLINVAR High prevalence of genetic variants previously associated with Brugada syndrome in new exome data. 23414114

2013
dbSNP: rs199473220
rs199473220
SCN5A
A 0.710 GeneticVariation CLINVAR The Brugada ECG and schizophrenia. 24951569

2014
dbSNP: rs199473220
rs199473220
SCN5A
A 0.710 GeneticVariation CLINVAR Facilitatory and inhibitory effects of SCN5A mutations on atrial fibrillation in Brugada syndrome. 21273195

2011
dbSNP: rs199473220
rs199473220
SCN5A
A 0.710 GeneticVariation CLINVAR An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. 20129283

2010
dbSNP: rs199473220
rs199473220
SCN5A
A 0.710 GeneticVariation CLINVAR Brugada syndrome disease phenotype explained in apparently benign sodium channel mutations. 24573164

2014
dbSNP: rs199473220
rs199473220
SCN5A
A 0.710 GeneticVariation CLINVAR Mortality of inherited arrhythmia syndromes: insight into their natural history. 22373669

2012
dbSNP: rs199473220
rs199473220
SCN5A
A 0.710 GeneticVariation CLINVAR Targeted analysis of whole genome sequence data to diagnose genetic cardiomyopathy. 25179549

2014
dbSNP: rs199473220
rs199473220
SCN5A
A 0.710 GeneticVariation CLINVAR Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies. 19251209

2009
dbSNP: rs199473220
rs199473220
SCN5A
A 0.710 GeneticVariation CLINVAR Genotype-phenotype relationship in Brugada syndrome: electrocardiographic features differentiate SCN5A-related patients from non-SCN5A-related patients. 12106943

2002
dbSNP: rs199473220
rs199473220
SCN5A
A 0.710 GeneticVariation CLINVAR Here, we report the functional consequences of a novel missense SCN5A mutation, G1319V, identified in a BrS patient. 17854786

2007
dbSNP: rs794728849
rs794728849
SCN5A
A 0.710 CausalMutation CLINVAR p.Gln1507-Lys1508-Pro1509del mutation, p.Arg222Ter nonsense mutation, and p.Met1498Arg in LQTS, BrS, and SSS, respectively, are reported for the first time in the Iranian population. 26467377

2016
dbSNP: rs794728849
rs794728849
SCN5A
A 0.710 CausalMutation 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: rs794728849
rs794728849
SCN5A
A 0.710 CausalMutation CLINVAR Comprehensive Genetic Characterization of a Spanish Brugada Syndrome Cohort. 26173111

2015
dbSNP: rs794728849
rs794728849
SCN5A
A 0.710 CausalMutation CLINVAR However, the SCN5A variants R568H and A993T can be classified as pathogenic LQTS3 causing mutations, while R222stop and R2012H are novel BrS causing mutations. 27287068

2016