Gene: SCN5A ×
Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199473058
rs199473058
SCN5A
T 0.710 CausalMutation CLINVAR An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. 20129283

2010
dbSNP: rs199473058
rs199473058
SCN5A
T 0.710 CausalMutation CLINVAR Three SCN5A mutations (V95I, R121Q, and R367H) have been previously implicated in BrS. 24529773

2014
dbSNP: rs199473058
rs199473058
SCN5A
T 0.710 CausalMutation CLINVAR Dominant-negative effect of SCN5A N-terminal mutations through the interaction of Na(v)1.5 α-subunits. 22739120

2012
dbSNP: rs199473062
rs199473062
SCN5A
T 0.710 CausalMutation CLINVAR

dbSNP: rs199473101
rs199473101
SCN5A
T 0.710 CausalMutation CLINVAR Sudden cardiac death with autopsy findings of uncertain significance: potential for erroneous interpretation. 23671135

2013
dbSNP: rs199473101
rs199473101
SCN5A
T 0.710 CausalMutation CLINVAR A novel strategy using cardiac sodium channel polymorphic fragments to rescue trafficking-deficient SCN5A mutations. 21840964

2011
dbSNP: rs199473101
rs199473101
SCN5A
T 0.710 CausalMutation CLINVAR A novel mutation, R376H, in the first pore segment of SCN5A variably causes Brugada syndrome and/or conduction disease in a single family. 15851228

2004
dbSNP: rs199473101
rs199473101
SCN5A
T 0.710 CausalMutation CLINVAR Genetic analysis in a family affected by sick sinus syndrome may reduce the sudden death risk in a young aspiring competitive athlete. 24295898

2014
dbSNP: rs199473101
rs199473101
SCN5A
T 0.710 CausalMutation CLINVAR Genotype-Phenotype Correlation of SCN5A Mutation for the Clinical and Electrocardiographic Characteristics of Probands With Brugada Syndrome: A Japanese Multicenter Registry. 28341781

2017
dbSNP: rs199473101
rs199473101
SCN5A
T 0.710 CausalMutation CLINVAR An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. 20129283

2010
dbSNP: rs199473101
rs199473101
SCN5A
T 0.710 CausalMutation CLINVAR Cardiac histological substrate in patients with clinical phenotype of Brugada syndrome. 16344400

2005
dbSNP: rs199473101
rs199473101
SCN5A
T 0.710 CausalMutation CLINVAR Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation. 18378609

2008
dbSNP: rs199473101
rs199473101
SCN5A
T 0.710 CausalMutation CLINVAR Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation. 27930701

2016
dbSNP: rs199473101
rs199473101
SCN5A
T 0.710 CausalMutation CLINVAR Cardiac evaluation of pediatric relatives in sudden arrhythmic death syndrome: a 2-center experience. 25194972

2014
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 Brugada syndrome disease phenotype explained in apparently benign sodium channel mutations. 24573164

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 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 Mortality of inherited arrhythmia syndromes: insight into their natural history. 22373669

2012
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 The Brugada ECG and schizophrenia. 24951569

2014
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: 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: rs759924541
rs759924541
SCN5A
T 0.710 GeneticVariation CLINVAR We describe a family showing the association between Brugada syndrome and epilepsy in which a known mutation in the SCN5A gene (p.W1095X, c.3284G>A) was identified. 23538271

2013