Gene: SCN5A ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854601
rs137854601
SCN5A
T 0.720 CausalMutation CLINVAR Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. 19841300

2009
dbSNP: rs137854601
rs137854601
SCN5A
T 0.720 CausalMutation CLINVAR Prevalence of early-onset atrial fibrillation in congenital long QT syndrome. 18452873

2008
dbSNP: rs137854601
rs137854601
SCN5A
T 0.720 CausalMutation CLINVAR Of 41 E1784K carriers, 93% had LQT3, 22% had BrS, and 39% had sinus node dysfunction. 18451998

2008
dbSNP: rs137854614
rs137854614
SCN5A
C 0.720 CausalMutation CLINVAR A mutation in the sodium channel is responsible for the association of long QT syndrome and familial atrial fibrillation. 18929331

2008
dbSNP: rs28937318
rs28937318
SCN5A
T 0.720 CausalMutation CLINVAR Comparison of long-term follow-up of electrocardiographic features in Brugada syndrome between the SCN5A-positive probands and the SCN5A-negative probands. 17697823

2007
dbSNP: rs137854614
rs137854614
SCN5A
C 0.720 CausalMutation CLINVAR Long-QT syndrome-related sodium channel mutations probed by the dynamic action potential clamp technique. 16254012

2006
dbSNP: rs137854601
rs137854601
SCN5A
T 0.720 CausalMutation CLINVAR Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 15840476

2005
dbSNP: rs137854601
rs137854601
SCN5A
T 0.720 CausalMutation CLINVAR Gene sequencing in neonates and infants with the long QT syndrome. 16379539

2005
dbSNP: rs137854614
rs137854614
SCN5A
C 0.720 CausalMutation CLINVAR Structural effects of an LQT-3 mutation on heart Na+ channel gating. 14990510

2004
dbSNP: rs137854601
rs137854601
SCN5A
T 0.720 CausalMutation CLINVAR Catecholamine-provoked microvoltage T wave alternans in genotyped long QT syndrome. 12877697

2003
dbSNP: rs28937318
rs28937318
SCN5A
T 0.720 CausalMutation CLINVAR The implications of genetic mutations in the sodium channel gene (SCN5A). 14753626

2003
dbSNP: rs137854601
rs137854601
SCN5A
T 0.720 CausalMutation CLINVAR Natural history of Brugada syndrome: insights for risk stratification and management. 11901046

2002
dbSNP: rs28937318
rs28937318
SCN5A
T 0.720 CausalMutation CLINVAR Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome. 11823453

2002
dbSNP: rs137854614
rs137854614
SCN5A
C 0.720 CausalMutation CLINVAR We report the analysis of two novel mutations on the same codon, Y1795C (LQT-3) and Y1795H (BrS), expressed in HEK 293 cells and characterized using whole-cell patch clamp procedures. 11410597

2001
dbSNP: rs137854601
rs137854601
SCN5A
T 0.720 CausalMutation CLINVAR Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. 10973849

2000
dbSNP: rs137854601
rs137854601
SCN5A
T 0.720 CausalMutation CLINVAR Electrophysiological characterization of SCN5A mutations causing long QT (E1784K) and Brugada (R1512W and R1432G) syndromes. 10727653

2000
dbSNP: rs137854601
rs137854601
SCN5A
T 0.720 CausalMutation CLINVAR The elusive link between LQT3 and Brugada syndrome: the role of flecainide challenge. 10961955

2000
dbSNP: rs137854601
rs137854601
SCN5A
T 0.720 CausalMutation CLINVAR Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel. 10377081

1999
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: rs759924541
rs759924541
SCN5A
T 0.710 GeneticVariation 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 Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation. 27930701

2016
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
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: rs137854611
rs137854611
SCN5A
T 0.710 GeneticVariation CLINVAR Direct Measurement of Cardiac Na+ Channel Conformations Reveals Molecular Pathologies of Inherited Mutations. 26283144

2015
dbSNP: rs794728849
rs794728849
SCN5A
A 0.710 CausalMutation CLINVAR Comprehensive Genetic Characterization of a Spanish Brugada Syndrome Cohort. 26173111

2015