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Gene entry

SCN5A

sodium voltage-gated channel alpha subunit 5

Chromosome
3
Cytoband
3p22.2
Variants (rsID)
286

SCN5A is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 3 (region 3p22.2). Its official name is “sodium voltage-gated channel alpha subunit 5”. The reference table lists 286 variants (rsID) for this gene.

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Clinically classified variants

235 reference-table entries with clinical significance (first 200 shown).

  • rs11719543Benignsingle nucleotide variant
  • rs1805124Benignsingle nucleotide variantCardiovascular phenotype|Long QT syndrome 3|Sick sinus syndrome 1|Brugada syndrome|Congenital long QT syndrome|Dilated cardiomyopathy 1E|Ventricular fibrillation, paroxysmal familial, type 1|Progressive familial heart block, type 1A|Brugada syndrome 1|Cardiac arrhythmia
  • rs1805126Benignsingle nucleotide variantCardiovascular phenotype|Congenital long QT syndrome|Brugada syndrome|Dilated cardiomyopathy 1E|Ventricular fibrillation, paroxysmal familial, type 1|Long QT syndrome 3|Sick sinus syndrome 1|Progressive familial heart block, type 1A|Brugada syndrome 1|Cardiac arrhythmia
  • rs183988524Benignsingle nucleotide variantBrugada syndrome|Cardiac arrhythmia
  • rs41261344Benignsingle nucleotide variantBrugada syndrome 1|Long qt syndrome 3, acquired, susceptibility to|Primary familial hypertrophic cardiomyopathy|Brugada syndrome|Cardiovascular phenotype|Long QT syndrome 3|Ventricular fibrillation, paroxysmal familial, type 1|Dilated cardiomyopathy 1E|Sick sinus syndrome 1|Progressive familial heart block, type 1A|Cardiac arrhythmia
  • rs41312963Benignsingle nucleotide variant
  • rs41313031Benignsingle nucleotide variantBrugada syndrome, lidocaine-induced|Cardiovascular phenotype|Brugada syndrome 1|Brugada syndrome|Cardiac arrhythmia
  • rs41313681Benignsingle nucleotide variantBrugada syndrome|Sick sinus syndrome 1|Long QT syndrome 3|Dilated cardiomyopathy 1E|Progressive familial heart block, type 1A|Brugada syndrome 1|Ventricular fibrillation, paroxysmal familial, type 1|Cardiac arrhythmia
  • rs41313691Benignsingle nucleotide variantLong QT syndrome 3|Brugada syndrome 1|Long QT syndrome 3|Brugada syndrome|Cardiovascular phenotype|Long QT syndrome 3|Brugada syndrome 1|Brugada syndrome|Dilated cardiomyopathy 1E|Sick sinus syndrome 1|Ventricular fibrillation, paroxysmal familial, type 1|Progressive familial heart block, type 1A|Cardiac arrhythmia
  • rs61746118Benignsingle nucleotide variantCardiovascular phenotype|Brugada syndrome|Cardiac arrhythmia
  • rs6599230Benignsingle nucleotide variantCardiovascular phenotype|Sick sinus syndrome 1|Congenital long QT syndrome|Brugada syndrome|Progressive familial heart block, type 1A|Ventricular fibrillation, paroxysmal familial, type 1|Dilated cardiomyopathy 1E|Long QT syndrome 3|Brugada syndrome 1|Cardiac arrhythmia
  • rs6791924Benignsingle nucleotide variantCardiovascular phenotype|Long QT syndrome 3|Sick sinus syndrome 1|Progressive familial heart block, type 1A|Brugada syndrome|Dilated cardiomyopathy 1E|Ventricular fibrillation, paroxysmal familial, type 1|Brugada syndrome 1|Cardiac arrhythmia
  • rs7432766Benignsingle nucleotide variant
  • rs7626962Benignsingle nucleotide variantLong qt syndrome 3, acquired, susceptibility to|SUDDEN INFANT DEATH SYNDROME|Brugada syndrome|Dilated cardiomyopathy 1E|Progressive familial heart block, type 1A|Ventricular fibrillation, paroxysmal familial, type 1|Congenital long QT syndrome|Sick sinus syndrome 1|Cardiovascular phenotype|Long QT syndrome 3|Left ventricular noncompaction|Brugada syndrome 1|Cardiac arrhythmia
  • rs1204915217Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Brugada syndrome|Cardiac arrhythmia
  • rs12720064Conflicting interpretationssingle nucleotide variantBrugada syndrome|Cardiac arrhythmia
  • rs12720452Conflicting interpretationssingle nucleotide variantCongenital long QT syndrome|Long QT syndrome, drug-associated|Brugada syndrome|Death in early adulthood|Death in infancy|Long QT syndrome 3|Cardiovascular phenotype|Cardiac arrhythmia
  • rs137854602Conflicting interpretationssingle nucleotide variantBrugada syndrome 1|Primary familial hypertrophic cardiomyopathy|Brugada syndrome|Cardiac arrhythmia
  • rs137854603Conflicting interpretationssingle nucleotide variantBrugada syndrome 1|Brugada syndrome|Cardiac arrhythmia|Brugada syndrome|Long QT syndrome
  • rs137854616Conflicting interpretationssingle nucleotide variantBrugada syndrome 1|Brugada syndrome|Long QT syndrome 3|SCN5A-Related Disorders|Progressive familial heart block, type 1A|Ventricular fibrillation, paroxysmal familial, type 1|Sick sinus syndrome 1
  • rs137854617Conflicting interpretationssingle nucleotide variantBrugada syndrome 1|Atrial fibrillation, familial, 10|Congenital long QT syndrome|Brugada syndrome|Long QT syndrome 3|Cardiac arrhythmia
  • rs137854619Conflicting interpretationssingle nucleotide variantLong QT syndrome 2/3, digenic|Congenital long QT syndrome|Long QT syndrome|Brugada syndrome|Brugada syndrome 1|Cardiac arrhythmia
  • rs144511230Conflicting interpretationssingle nucleotide variantLong QT syndrome 3|Brugada syndrome 1|Long QT syndrome 3|Brugada syndrome|Cardiovascular phenotype|Brugada syndrome|Long QT syndrome 3|Progressive familial heart block, type 1A|Brugada syndrome 1|Sick sinus syndrome 1|Dilated cardiomyopathy 1E|Ventricular fibrillation, paroxysmal familial, type 1|Cardiac arrhythmia
  • rs148598985Conflicting interpretationssingle nucleotide variantLong QT syndrome 3|Progressive familial heart block, type 1A|Congenital long QT syndrome|Dilated cardiomyopathy 1E|Ventricular fibrillation, paroxysmal familial, type 1|Brugada syndrome 1|Sick sinus syndrome 1|Brugada syndrome
  • rs150264233Conflicting interpretationssingle nucleotide variantLong QT syndrome|Death in infancy|Cardiovascular phenotype|Brugada syndrome 1|Brugada syndrome|Cardiac arrhythmia
  • rs191840835Conflicting interpretationssingle nucleotide variantProgressive familial heart block, type 1A|Congenital long QT syndrome|Brugada syndrome|Sick sinus syndrome 1|Ventricular fibrillation, paroxysmal familial, type 1|Dilated cardiomyopathy 1E|Long QT syndrome 3|Brugada syndrome 1|Cardiac arrhythmia
  • rs192113333Conflicting interpretationssingle nucleotide variantCongenital long QT syndrome|Brugada syndrome 1|Cardiac arrhythmia|Brugada syndrome
  • rs199473062Conflicting interpretationssingle nucleotide variantBrugada syndrome|Brugada syndrome 1
  • rs199473068Conflicting interpretationssingle nucleotide variantCongenital long QT syndrome|Cardiac arrhythmia|Brugada syndrome
  • rs199473136Conflicting interpretationssingle nucleotide variantCongenital long QT syndrome|Long QT syndrome|Brugada syndrome|Cardiac arrhythmia
  • rs199473140Conflicting interpretationssingle nucleotide variantBrugada syndrome|Primary dilated cardiomyopathy|Cardiac arrhythmia
  • rs199473177Conflicting interpretationssingle nucleotide variantVentricular tachycardia|Long QT syndrome 3|Brugada syndrome|Brugada syndrome|Cardiac arrhythmia
  • rs199473294Conflicting interpretationssingle nucleotide variantBrugada syndrome|Sudden cardiac death|Cardiovascular phenotype|Cardiac arrhythmia
  • rs199473316Conflicting interpretationssingle nucleotide variantLong QT syndrome|Familial isolated arrhythmogenic right ventricular dysplasia|Cardiovascular phenotype|Brugada syndrome 1|Brugada syndrome|Dilated cardiomyopathy 1E|Sick sinus syndrome 1|Ventricular fibrillation, paroxysmal familial, type 1|Progressive familial heart block, type 1A|Cardiac arrhythmia
  • rs199473320Conflicting interpretationssingle nucleotide variantBrugada syndrome|Cardiovascular phenotype|Long QT syndrome|Cardiac arrhythmia
  • rs199473331Conflicting interpretationssingle nucleotide variantLong QT syndrome|Brugada syndrome 1|Brugada syndrome|Cardiac arrhythmia
  • rs199473592Conflicting interpretationssingle nucleotide variantBrugada syndrome|Brugada syndrome 1|Cardiac arrhythmia
  • rs199473600Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Brugada syndrome|Cardiac arrhythmia
  • rs199473603Conflicting interpretationssingle nucleotide variantCongenital long QT syndrome|Long QT syndrome|Brugada syndrome|Long QT syndrome 3|Cardiovascular phenotype|Brugada syndrome 1|Conduction disorder of the heart|Sick sinus syndrome 1|Cardiac arrhythmia
  • rs199473618Conflicting interpretationssingle nucleotide variantCongenital long QT syndrome|Long QT syndrome|Brugada syndrome|Brugada syndrome 1|Cardiac arrhythmia
  • rs199473625Conflicting interpretationssingle nucleotide variantCongenital long QT syndrome|Cardiovascular phenotype|Brugada syndrome|Cardiac arrhythmia|Dilated cardiomyopathy 1E
  • rs199473634Conflicting interpretationssingle nucleotide variantCongenital long QT syndrome|Long QT syndrome|Brugada syndrome|Cardiovascular phenotype|Progressive familial heart block, type 1A|Sick sinus syndrome 1|Brugada syndrome 1|Long QT syndrome 3|Ventricular fibrillation, paroxysmal familial, type 1|Dilated cardiomyopathy 1E|Cardiac arrhythmia
  • rs199473635Conflicting interpretationssingle nucleotide variantAtrial fibrillation|Brugada syndrome|Cardiac arrhythmia
  • rs200569112Conflicting interpretationssingle nucleotide variantBrugada syndrome|Cardiac arrhythmia
  • rs200868190Conflicting interpretationssingle nucleotide variantBrugada syndrome|Cardiac arrhythmia
  • rs368678204Conflicting interpretationssingle nucleotide variantPrimary dilated cardiomyopathy|Cardiovascular phenotype|Brugada syndrome 1|Brugada syndrome|Cardiac arrhythmia
  • rs370114378Conflicting interpretationssingle nucleotide variantBrugada syndrome|Congenital long QT syndrome|Cardiovascular phenotype|Long QT syndrome 3|Dilated cardiomyopathy 1E|Progressive familial heart block, type 1A|Ventricular fibrillation, paroxysmal familial, type 1|Sick sinus syndrome 1|Brugada syndrome 1|Cardiac arrhythmia
  • rs370346797Conflicting interpretationssingle nucleotide variantProgressive familial heart block, type 1A|Sick sinus syndrome 1|Long QT syndrome 3|Dilated cardiomyopathy 1E|Brugada syndrome|Congenital long QT syndrome|Ventricular fibrillation, paroxysmal familial, type 1|Cardiovascular phenotype|Brugada syndrome 1|Cardiac arrhythmia
  • rs370438420Conflicting interpretationssingle nucleotide variantBrugada syndrome|Cardiac arrhythmia
  • rs370588133Conflicting interpretationssingle nucleotide variantBrugada syndrome|Cardiovascular phenotype|Brugada syndrome 1|Cardiac arrhythmia
  • rs370694515Conflicting interpretationssingle nucleotide variantLong QT syndrome 3|Cardiovascular phenotype|Familial isolated arrhythmogenic right ventricular dysplasia|Brugada syndrome|Cardiac arrhythmia
  • rs372395294Conflicting interpretationssingle nucleotide variantFamilial isolated arrhythmogenic right ventricular dysplasia|Cardiac arrhythmia
  • rs41276525Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Ventricular tachycardia|Brugada syndrome|Ventricular fibrillation, paroxysmal familial, type 1|Brugada syndrome 1|Dilated cardiomyopathy 1E|Long QT syndrome 3|Progressive familial heart block, type 1A|Sick sinus syndrome 1|Cardiac arrhythmia
  • rs41311117Conflicting interpretationssingle nucleotide variantBrugada syndrome|Long QT syndrome|Long QT syndrome 3|Brugada syndrome 1|Cardiovascular phenotype|Brugada syndrome 1|Cardiomyopathy|Brugada syndrome|Sick sinus syndrome 1|Progressive familial heart block, type 1A|Long QT syndrome 3|Ventricular fibrillation, paroxysmal familial, type 1|Dilated cardiomyopathy 1E|Cardiac arrhythmia
  • rs41311121Conflicting interpretationssingle nucleotide variantBrugada syndrome|Cardiac arrhythmia
  • rs41311127Conflicting interpretationssingle nucleotide variantBrugada syndrome|Long QT syndrome|Primary familial dilated cardiomyopathy|Brugada syndrome 1|Cardiac arrhythmia
  • rs41312419Conflicting interpretationssingle nucleotide variantCardiomyopathy|Congenital long QT syndrome|Ventricular fibrillation, paroxysmal familial, type 1|Long QT syndrome 3|Brugada syndrome 1|Sick sinus syndrome 1|Dilated cardiomyopathy 1E|Progressive familial heart block, type 1A|Brugada syndrome
  • rs41313033Conflicting interpretationssingle nucleotide variantBrugada syndrome|Cardiovascular phenotype|Sick sinus syndrome 1|Dilated cardiomyopathy 1E|Progressive familial heart block, type 1A|Ventricular fibrillation, paroxysmal familial, type 1|Congenital long QT syndrome|Long QT syndrome 3|Brugada syndrome 1|Cardiac arrhythmia
  • rs41313687Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Congenital long QT syndrome|Sick sinus syndrome 1|Progressive familial heart block, type 1A|Dilated cardiomyopathy 1E|Ventricular fibrillation, paroxysmal familial, type 1|Brugada syndrome|Long QT syndrome 3|Brugada syndrome 1|Cardiac arrhythmia
  • rs41313693Conflicting interpretationssingle nucleotide variantBrugada syndrome|Long QT syndrome|Congenital long QT syndrome|Sick sinus syndrome|Paroxysmal familial ventricular fibrillation|Progressive familial heart block|Dilated Cardiomyopathy, Dominant|Cardiovascular phenotype|Cardiac arrhythmia
  • rs41313703Conflicting interpretationssingle nucleotide variantBrugada syndrome|Paroxysmal familial ventricular fibrillation|Dilated Cardiomyopathy, Dominant|Long QT syndrome|Sick sinus syndrome|Progressive familial heart block|Congenital long QT syndrome|Cardiovascular phenotype|Cardiac arrhythmia
  • rs45437099Conflicting interpretationssingle nucleotide variantProgressive familial heart block, type 1A|Ventricular fibrillation, paroxysmal familial, type 1|Dilated cardiomyopathy 1E|Congenital long QT syndrome|Long QT syndrome 3|Brugada syndrome|Sick sinus syndrome 1|Brugada syndrome 1|Cardiac arrhythmia
  • rs45471994Conflicting interpretationssingle nucleotide variantBrugada syndrome|Brugada syndrome, lidocaine-induced|Cardiovascular phenotype|Brugada syndrome 1|Cardiac arrhythmia
  • rs45475899Conflicting interpretationssingle nucleotide variantLong QT syndrome|Brugada syndrome|Long QT syndrome 3|Brugada syndrome 1|Brugada syndrome|Cardiac arrhythmia
  • rs45489199Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Brugada syndrome 1|Brugada syndrome|Dilated cardiomyopathy 1E|Progressive familial heart block, type 1A|Ventricular fibrillation, paroxysmal familial, type 1|Long QT syndrome 3|Sick sinus syndrome 1|Cardiac arrhythmia
  • rs45522138Conflicting interpretationssingle nucleotide variantBrugada syndrome|Cardiovascular phenotype|Long QT syndrome 3|Congenital long QT syndrome|Sick sinus syndrome 1|Ventricular fibrillation, paroxysmal familial, type 1|Dilated cardiomyopathy 1E|Progressive familial heart block, type 1A|Brugada syndrome 1|Cardiac arrhythmia
  • rs45553235Conflicting interpretationssingle nucleotide variantLong QT syndrome|Brugada syndrome|Brugada syndrome 1|Long QT syndrome 3|Cardiovascular phenotype|Brugada syndrome 1|Ventricular fibrillation, paroxysmal familial, type 1|Dilated cardiomyopathy 1E|Sick sinus syndrome 1|Progressive familial heart block, type 1A|Long QT syndrome 3|Cardiac arrhythmia
  • rs45563942Conflicting interpretationssingle nucleotide variantDilated cardiomyopathy 1E|Primary dilated cardiomyopathy|Cardiovascular phenotype|Brugada syndrome|Cardiac arrhythmia
  • rs45620037Conflicting interpretationssingle nucleotide variantSick sinus syndrome 1|Brugada syndrome|AV junctional rhythm|Dilated cardiomyopathy 1E|Cardiovascular phenotype|Primary familial dilated cardiomyopathy|Long QT syndrome 3|SCN5A-Related Disorders|Cardiac arrhythmia
  • rs538707712Conflicting interpretationssingle nucleotide variantLong QT syndrome 3|Brugada syndrome|Ventricular fibrillation, paroxysmal familial, type 1|Dilated cardiomyopathy 1E|Sick sinus syndrome 1|Progressive familial heart block, type 1A|Congenital long QT syndrome|Cardiovascular phenotype|Brugada syndrome 1|Cardiac arrhythmia
  • rs587781157Conflicting interpretationssingle nucleotide variantDilated Cardiomyopathy, Dominant|Long QT syndrome|Paroxysmal familial ventricular fibrillation|Congenital long QT syndrome|Brugada syndrome|Progressive familial heart block|Sick sinus syndrome|Cardiac arrhythmia
  • rs61737825Conflicting interpretationssingle nucleotide variantBrugada syndrome|Cardiac arrhythmia
  • rs748312802Conflicting interpretationssingle nucleotide variantBrugada syndrome|Cardiac arrhythmia
  • rs751050999Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Brugada syndrome|Cardiac arrhythmia
  • rs754221948Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Brugada syndrome|Cardiac arrhythmia
  • rs756159737Conflicting interpretationsMicrosatelliteBrugada syndrome|Prolonged QT interval|Sudden cardiac death|Cardiac arrhythmia
  • rs757532106Conflicting interpretationssingle nucleotide variantBrugada syndrome|8 conditions|Cardiac arrhythmia
  • rs766751878Conflicting interpretationssingle nucleotide variantCardiac arrhythmia
  • rs794728842Conflicting interpretationssingle nucleotide variantBrugada syndrome
  • rs794728864Conflicting interpretationssingle nucleotide variantBrugada syndrome
  • rs794728888Conflicting interpretationssingle nucleotide variantLong QT syndrome 3|Dilated cardiomyopathy 1E|Progressive familial heart block, type 1A|Ventricular fibrillation, paroxysmal familial, type 1|Sick sinus syndrome 1|Brugada syndrome 1|Brugada syndrome
  • rs794728934Conflicting interpretationssingle nucleotide variantBrugada syndrome
  • rs869025517Conflicting interpretationssingle nucleotide variantCardiac arrest|Brugada syndrome
  • rs878855296Conflicting interpretationssingle nucleotide variantBrugada syndrome|Cardiac arrhythmia
  • rs199473087Likely benignsingle nucleotide variantCardiovascular phenotype|Brugada syndrome|Cardiac arrhythmia
  • rs794728839Likely benignsingle nucleotide variant
  • rs1057518916Likely pathogenicsingle nucleotide variantSyncope
  • rs1057523393Likely pathogenicsingle nucleotide variant
  • rs1057524447Likely pathogenicsingle nucleotide variant
  • rs1060501130Likely pathogenicsingle nucleotide variantBrugada syndrome|Brugada syndrome 1
  • rs1064793326Likely pathogenicsingle nucleotide variant
  • rs1064794424Likely pathogenicDuplication
  • rs1312714061Likely pathogenicsingle nucleotide variant
  • rs1377226524Likely pathogenicsingle nucleotide variantBrugada syndrome
  • rs137854611Likely pathogenicsingle nucleotide variantBrugada syndrome 1|Brugada syndrome
  • rs199473249Likely pathogenicsingle nucleotide variantBrugada syndrome|Cardiovascular phenotype
  • rs199473282Likely pathogenicsingle nucleotide variantBrugada syndrome|Brugada syndrome 1|Cardiac arrhythmia
  • rs374557801Likely pathogenicsingle nucleotide variant
  • rs750013499Likely pathogenicsingle nucleotide variant
  • rs777689378Likely pathogenicsingle nucleotide variantBrugada syndrome
  • rs794728876Likely pathogenicsingle nucleotide variant
  • rs794728885Likely pathogenicsingle nucleotide variant
  • rs794728889Likely pathogenicsingle nucleotide variant
  • rs794728891Likely pathogenicsingle nucleotide variant
  • rs794728892Likely pathogenicsingle nucleotide variant
  • rs794728895Likely pathogenicsingle nucleotide variant
  • rs794728900Likely pathogenicsingle nucleotide variant
  • rs794728936Likely pathogenicsingle nucleotide variant
  • rs869025519Likely pathogenicsingle nucleotide variantSick sinus syndrome
  • rs869025522Likely pathogenicMicrosatelliteBrugada syndrome
  • rs869025523Likely pathogenicMicrosatelliteLeft ventricular noncompaction cardiomyopathy
  • rs886037903Likely pathogenicDeletionBrugada syndrome 1|Cardiac arrhythmia
  • rs886039455Likely pathogenicDeletion
  • rs1060499940PathogenicDeletionFamilial isolated arrhythmogenic right ventricular dysplasia
  • rs1060499941Pathogenicsingle nucleotide variantFamilial isolated arrhythmogenic right ventricular dysplasia
  • rs1060501114Pathogenicsingle nucleotide variantBrugada syndrome
  • rs1060501127PathogenicDeletionBrugada syndrome
  • rs1060501135Pathogenicsingle nucleotide variantBrugada syndrome
  • rs1060501136Pathogenicsingle nucleotide variantBrugada syndrome
  • rs1060501145Pathogenicsingle nucleotide variantBrugada syndrome
  • rs1064792926PathogenicDeletionBrugada syndrome
  • rs1064793651PathogenicInsertion
  • rs1064795085Pathogenicsingle nucleotide variantBrugada syndrome
  • rs1064795784PathogenicDeletionBrugada syndrome
  • rs1064796233PathogenicDeletionBrugada syndrome
  • rs1366120635Pathogenicsingle nucleotide variantBrugada syndrome|Cardiac arrhythmia
  • rs137854600Pathogenicsingle nucleotide variantLong QT syndrome 3|Long QT syndrome 3/6, digenic|Congenital long QT syndrome|Brugada syndrome
  • rs137854601Pathogenicsingle nucleotide variantLong QT syndrome 3|Brugada syndrome 1|Sinus node disease|Congenital long QT syndrome|Brugada syndrome|Cardiovascular phenotype|Long QT syndrome 1|Congenital long QT syndrome|Brugada syndrome|SCN5A-Related Disorders
  • rs137854604Pathogenicsingle nucleotide variantVentricular fibrillation, paroxysmal familial, type 1|Ventricular fibrillation|Brugada syndrome 1|Cardiovascular phenotype|Brugada syndrome|Cardiac arrhythmia
  • rs137854609Pathogenicsingle nucleotide variantLong QT syndrome 3|Congenital long QT syndrome
  • rs137854612Pathogenicsingle nucleotide variantSick sinus syndrome 1|Brugada syndrome 1|Cardiac conduction defect, nonspecific|Brugada syndrome
  • rs137854614Pathogenicsingle nucleotide variantLong QT syndrome 3|Congenital long QT syndrome|Brugada syndrome
  • rs137854615Pathogenicsingle nucleotide variantBrugada syndrome 1|Brugada syndrome
  • rs137854618Pathogenicsingle nucleotide variantDilated cardiomyopathy 1E|Atrial fibrillation, familial, 10|Brugada syndrome|Atrial standstill 1, digenic|Cardiovascular phenotype|Long QT syndrome 3|Cardiac arrhythmia
  • rs137854620Pathogenicsingle nucleotide variantBrugada syndrome 1
  • rs1417036453Pathogenicsingle nucleotide variantBrugada syndrome|Cardiovascular phenotype|Primary familial dilated cardiomyopathy|Cardiac arrhythmia
  • rs199473058Pathogenicsingle nucleotide variantBrugada syndrome|Brugada syndrome 1
  • rs199473072Pathogenicsingle nucleotide variantCongenital long QT syndrome|Cardiac conduction defect, nonspecific|Brugada syndrome|Long QT syndrome 3|Cardiovascular phenotype|Cardiac arrhythmia|See cases
  • rs199473083Pathogenicsingle nucleotide variantBrugada syndrome|Brugada syndrome 1
  • rs199473153Pathogenicsingle nucleotide variantBrugada syndrome|Cardiovascular phenotype
  • rs199473220Pathogenicsingle nucleotide variantBrugada syndrome|Cardiovascular phenotype|Long QT syndrome 3|Brugada syndrome (shorter-than-normal QT interval)|Cardiac arrhythmia
  • rs199473556Pathogenicsingle nucleotide variantBrugada syndrome|Brugada syndrome 1|Cardiovascular phenotype
  • rs28937316Pathogenicsingle nucleotide variantLong QT syndrome 3|Congenital long QT syndrome|Cardiovascular phenotype|Brugada syndrome
  • rs28937317Pathogenicsingle nucleotide variantLong QT syndrome 3|Congenital long QT syndrome|Brugada syndrome
  • rs373172185Pathogenicsingle nucleotide variant
  • rs397514251PathogenicDeletionLong QT syndrome 3|Brugada syndrome
  • rs397514252PathogenicDuplicationBrugada syndrome 1
  • rs397514446PathogenicDeletionBrugada syndrome 1
  • rs397514447Pathogenicsingle nucleotide variantProgressive familial heart block, type 1A|Brugada syndrome
  • rs397514449PathogenicDuplicationLong QT syndrome 3|Brugada syndrome 1
  • rs397514450PathogenicMicrosatelliteDilated cardiomyopathy 1E|Brugada syndrome|Cardiac arrhythmia
  • rs45546039Pathogenicsingle nucleotide variantDilated cardiomyopathy 1E|Congenital long QT syndrome|Primary dilated cardiomyopathy|Brugada syndrome|Long QT syndrome 3|8 conditions
  • rs72549410Pathogenicsingle nucleotide variantCongenital long QT syndrome|Long QT syndrome|Brugada syndrome|Long QT syndrome 3|Cardiovascular phenotype
  • rs727503411PathogenicDeletionBrugada syndrome
  • rs759924541Pathogenicsingle nucleotide variantBrugada syndrome|Brugada syndrome 1
  • rs774537241Pathogenicsingle nucleotide variant
  • rs794728843Pathogenicsingle nucleotide variantBrugada syndrome 1|Brugada syndrome|Cardiovascular phenotype|SCN5A-related conditions
  • rs794728846Pathogenicsingle nucleotide variantBrugada syndrome|Congenital long QT syndrome|Brugada syndrome
  • rs794728849Pathogenicsingle nucleotide variantBrugada syndrome|Long QT syndrome 3
  • rs794728851Pathogenicsingle nucleotide variant
  • rs794728854Pathogenicsingle nucleotide variant
  • rs794728858Pathogenicsingle nucleotide variant
  • rs794728859Pathogenicsingle nucleotide variant
  • rs794728865Pathogenicsingle nucleotide variantBrugada syndrome|Cardiac arrhythmia
  • rs794728873Pathogenicsingle nucleotide variant
  • rs794728877Pathogenicsingle nucleotide variant
  • rs794728879Pathogenicsingle nucleotide variantBrugada syndrome|Brugada syndrome|Congenital long QT syndrome|Dilated cardiomyopathy 1E|Long QT syndrome 3
  • rs794728880Pathogenicsingle nucleotide variantBrugada syndrome
  • rs794728902PathogenicDeletion
  • rs794728906PathogenicDeletionBrugada syndrome
  • rs794728907PathogenicDeletion
  • rs794728909PathogenicDeletion
  • rs794728910PathogenicDeletionBrugada syndrome
  • rs794728912PathogenicDeletionBrugada syndrome|Cardiovascular phenotype
  • rs794728914PathogenicDeletionBrugada syndrome
  • rs794728918PathogenicDuplicationBrugada syndrome 1
  • rs794728921PathogenicDeletionBrugada syndrome
  • rs794728924PathogenicDeletionCardiovascular phenotype|Brugada syndrome
  • rs794728931Pathogenicsingle nucleotide variant
  • rs794728938Pathogenicsingle nucleotide variant
  • rs794728942PathogenicDuplication
  • rs794728943PathogenicDeletion
  • rs794728944PathogenicDeletion
  • rs794728945PathogenicDuplication
  • rs863224532Pathogenicsingle nucleotide variantBrugada syndrome
  • rs863225273Pathogenicsingle nucleotide variantBrugada syndrome
  • rs869025520Pathogenicsingle nucleotide variantBrugada syndrome
  • rs878855292Pathogenicsingle nucleotide variantBrugada syndrome
  • rs886039018PathogenicDeletionCardiovascular phenotype
  • rs886041848Pathogenicsingle nucleotide variant
  • rs137854608Uncertain significancesingle nucleotide variantProgressive familial heart block, type 1A|Atrioventricular block|Migraine|Hemiplegia|Primary dilated cardiomyopathy|Brugada syndrome|Dilated cardiomyopathy 1E|Long QT syndrome 3|Ventricular fibrillation, paroxysmal familial, type 1|Sick sinus syndrome 1|Brugada syndrome 1|Cardiac arrhythmia
  • rs137854610Uncertain significancesingle nucleotide variantLong QT syndrome 3|Congenital long QT syndrome|SUDDEN INFANT DEATH SYNDROME|Brugada syndrome|Cardiovascular phenotype|Cardiac arrhythmia
  • rs142804667Uncertain significancesingle nucleotide variantBrugada syndrome
  • rs146848219Uncertain significancesingle nucleotide variantBrugada syndrome|Congenital long QT syndrome|Progressive familial heart block|Paroxysmal familial ventricular fibrillation|Dilated Cardiomyopathy, Dominant|Long QT syndrome|Sick sinus syndrome|Cardiovascular phenotype|Cardiac arrhythmia
  • rs199473055Uncertain significancesingle nucleotide variantCongenital long QT syndrome
  • rs199473070Uncertain significancesingle nucleotide variantBrugada syndrome
  • rs199473111Uncertain significancesingle nucleotide variantAtrial fibrillation, familial, 10|Atrial fibrillation|8 conditions|Brugada syndrome|Cardiac arrhythmia
  • rs199473113Uncertain significancesingle nucleotide variantBrugada syndrome|Brugada syndrome 1|Cardiac arrhythmia
  • rs199473115Uncertain significancesingle nucleotide variantAtrial fibrillation, familial, 10|Atrial fibrillation|Brugada syndrome
  • rs199473118Uncertain significancesingle nucleotide variantCardiac conduction defect, nonspecific|Brugada syndrome 1|Brugada syndrome

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.