Gene: SCN5A ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854600
rs137854600
SCN5A
T 0.840 CausalMutation CLINVAR

dbSNP: rs137854601
rs137854601
SCN5A
T 0.820 CausalMutation CLINVAR The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience. 24784157

2014
dbSNP: rs137854601
rs137854601
SCN5A
T 0.820 CausalMutation CLINVAR High prevalence of the SCN5A E1784K mutation in school children with long QT syndrome living on the Okinawa islands. 24871449

2014
dbSNP: rs137854601
rs137854601
SCN5A
T 0.820 CausalMutation CLINVAR Identification of six novel SCN5A mutations in Japanese patients with Brugada syndrome. 21321465

2011
dbSNP: rs137854601
rs137854601
SCN5A
T 0.820 CausalMutation CLINVAR Heterologously expressed E1784K channels showed a 15.0-mV negative shift in the voltage dependence of Na channel inactivation and a 7.5-fold increase in flecainide affinity for resting-state channels, properties also seen with other LQT3 mutations associated with a mixed clinical phenotype. 18451998

2008
dbSNP: rs137854601
rs137854601
SCN5A
T 0.820 CausalMutation CLINVAR Electrophysiological characterization of SCN5A mutations causing long QT (E1784K) and Brugada (R1512W and R1432G) syndromes. 10727653

2000
dbSNP: rs137854601
rs137854601
SCN5A
T 0.820 CausalMutation CLINVAR Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel. 10377081

1999
dbSNP: rs137854601
rs137854601
SCN5A
T 0.820 GeneticVariation CLINVAR

dbSNP: rs199473603
rs199473603
SCN5A
A 0.810 CausalMutation CLINVAR High prevalence of genetic variants previously associated with LQT syndrome in new exome data. 22378279

2012
dbSNP: rs199473603
rs199473603
SCN5A
A 0.810 CausalMutation CLINVAR High prevalence of long QT syndrome-associated SCN5A variants in patients with early-onset lone atrial fibrillation. 22685113

2012
dbSNP: rs199473603
rs199473603
SCN5A
A 0.810 CausalMutation CLINVAR Cardiac sodium channel dysfunction in sudden infant death syndrome. 17210841

2007
dbSNP: rs199473603
rs199473603
SCN5A
A 0.810 CausalMutation CLINVAR "Letter by O'Rourke regarding articles, ""Prevalence of long-QT syndrome gene variants in sudden infant death syndrome,"" ""Cardiac sodium channel dysfunction in sudden infant death syndrome,"" and ""Contribution of long-QT syndrome genes to sudden infant death syndrome: is it time to consider newborn electrocardiographic screening?""." 17646591

2007
dbSNP: rs199473603
rs199473603
SCN5A
A 0.810 CausalMutation CLINVAR Sodium channel abnormalities are infrequent in patients with long QT syndrome: identification of two novel SCN5A mutations. 10508990

1999
dbSNP: rs137854614
rs137854614
SCN5A
C 0.810 CausalMutation CLINVAR

dbSNP: rs199473283
rs199473283
SCN5A
T 0.810 GeneticVariation CLINVAR

dbSNP: rs199473311
rs199473311
SCN5A
C 0.810 CausalMutation CLINVAR

dbSNP: rs199473603
rs199473603
SCN5A
A 0.810 GeneticVariation CLINVAR

dbSNP: rs72549410
rs72549410
SCN5A
T 0.800 CausalMutation CLINVAR KCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1. 27041150

2016
dbSNP: rs28937316
rs28937316
SCN5A
T 0.800 CausalMutation CLINVAR Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. 19841300

2009
dbSNP: rs28937316
rs28937316
SCN5A
T 0.800 CausalMutation CLINVAR Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 15840476

2005
dbSNP: rs28937316
rs28937316
SCN5A
T 0.800 CausalMutation CLINVAR Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. 10973849

2000
dbSNP: rs28937316
rs28937316
SCN5A
T 0.800 CausalMutation CLINVAR Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia. 8541846

1995
dbSNP: rs137854605
rs137854605
SCN5A
TT 0.800 CausalMutation CLINVAR

dbSNP: rs137854609
rs137854609
SCN5A
A 0.800 CausalMutation CLINVAR

dbSNP: rs137854617
rs137854617
SCN5A
T 0.800 GeneticVariation CLINVAR