Gene: SCN5A ×
Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs794728924
rs794728924
SCN5A
T 0.700 CausalMutation CLINVAR SCN5A variant that blocks fibroblast growth factor homologous factor regulation causes human arrhythmia. 26392562

2015
dbSNP: rs878855296
rs878855296
SCN5A
T 0.700 GeneticVariation CLINVAR Familial Paralysis of the Atrium Due to a Mutation in SCN5A. 26304136

2015
dbSNP: rs878855296
rs878855296
SCN5A
T 0.700 GeneticVariation CLINVAR UniProt: a hub for protein information. 25348405

2015
dbSNP: rs137854604
rs137854604
SCN5A
A 0.700 GeneticVariation CLINVAR Clinical exome sequencing for genetic identification of rare Mendelian disorders. 25326637

2014
dbSNP: rs137854618
rs137854618
SCN5A
T 0.700 CausalMutation CLINVAR Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia. 24136861

2014
dbSNP: rs137854618
rs137854618
SCN5A
T 0.700 CausalMutation CLINVAR Sodium channelopathy underlying familial sick sinus syndrome with early onset and predominantly male characteristics. 24762805

2014
dbSNP: rs199473161
rs199473161
SCN5A
A 0.700 CausalMutation CLINVAR Targeted analysis of whole genome sequence data to diagnose genetic cardiomyopathy. 25179549

2014
dbSNP: rs199473161
rs199473161
SCN5A
A 0.700 CausalMutation CLINVAR Novel SCN5A mutation in amiodarone-responsive multifocal ventricular ectopy-associated cardiomyopathy. 24815523

2014
dbSNP: rs199473266
rs199473266
SCN5A
C 0.700 GeneticVariation CLINVAR Brugada syndrome disease phenotype explained in apparently benign sodium channel mutations. 24573164

2014
dbSNP: rs199473266
rs199473266
SCN5A
C 0.700 GeneticVariation CLINVAR A comprehensive electrocardiographic, molecular, and echocardiographic study of Brugada syndrome: validation of the 2013 diagnostic criteria. 24721456

2014
dbSNP: rs199473556
rs199473556
SCN5A
A 0.700 CausalMutation CLINVAR Is sudden unexplained nocturnal death syndrome in Southern China a cardiac sodium channel dysfunction disorder? 24529773

2014
dbSNP: rs199473556
rs199473556
SCN5A
A 0.700 CausalMutation CLINVAR Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia. 24136861

2014
dbSNP: rs45546039
rs45546039
SCN5A
T 0.700 CausalMutation CLINVAR Gain-of-function mutation of the SCN5A gene causes exercise-induced polymorphic ventricular arrhythmias. 25210054

2014
dbSNP: rs45546039
rs45546039
SCN5A
T 0.700 CausalMutation CLINVAR Novel SCN5A mutation in amiodarone-responsive multifocal ventricular ectopy-associated cardiomyopathy. 24815523

2014
dbSNP: rs757532106
rs757532106
SCN5A
A 0.700 CausalMutation CLINVAR Genetic variants for long QT syndrome among infants and children from a statewide newborn hearing screening program cohort. 24388587

2014
dbSNP: rs794728843
rs794728843
SCN5A
T 0.700 GeneticVariation CLINVAR Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2. 24606995

2014
dbSNP: rs794728940
rs794728940
SCN5A
A 0.700 CausalMutation CLINVAR Cardiac channelopathy testing in 274 ethnically diverse sudden unexplained deaths. 24631775

2014
dbSNP: rs794728941
rs794728941
SCN5A
T 0.700 GeneticVariation CLINVAR PDZ domain-binding motif regulates cardiomyocyte compartment-specific NaV1.5 channel expression and function. 24895455

2014
dbSNP: rs878855296
rs878855296
SCN5A
T 0.700 GeneticVariation CLINVAR Sodium channelopathy underlying familial sick sinus syndrome with early onset and predominantly male characteristics. 24762805

2014
dbSNP: rs137854618
rs137854618
SCN5A
T 0.700 CausalMutation CLINVAR A transgenic zebrafish model of a human cardiac sodium channel mutation exhibits bradycardia, conduction-system abnormalities and early death. 23791817

2013
dbSNP: rs1417036453
rs1417036453
SCN5A
A 0.700 CausalMutation CLINVAR Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. 23631430

2013
dbSNP: rs1553692734
rs1553692734
SCN5A
A 0.700 CausalMutation CLINVAR Functional characterization of a novel frameshift mutation in the C-terminus of the Nav1.5 channel underlying a Brugada syndrome with variable expression in a Spanish family. 24363796

2013
dbSNP: rs199473305
rs199473305
SCN5A
T 0.700 CausalMutation CLINVAR A study of the SCN5A gene in a cohort of 76 patients with Brugada syndrome. 22984773

2013
dbSNP: rs199473305
rs199473305
SCN5A
T 0.700 CausalMutation CLINVAR MOG1 rescues defective trafficking of Na(v)1.5 mutations in Brugada syndrome and sick sinus syndrome. 23420830

2013
dbSNP: rs757532106
rs757532106
SCN5A
A 0.700 CausalMutation CLINVAR Long QT interval in Turner syndrome--a high prevalence of LQTS gene mutations. 23936059

2013