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Links from MedGen

Items: 2

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr3:38651267
GRCh38:
Chr3:38609776
SCN5AG298SCardiac arrhythmia, Dilated cardiomyopathy 1E, SUDDEN INFANT DEATH SYNDROME,
Ventricular fibrillation, paroxysmal familial, type 1, Sick sinus syndrome 1, Brugada syndrome 1,
Atrial fibrillation, familial, 10, Long QT syndrome 3, Progressive familial heart block, type 1A,
not specified, not providedBrugada syndrome,
Ventricular fibrillation, paroxysmal familial, type 1, Sick sinus syndrome 1, Brugada syndrome 1,
Long QT syndrome 3, Dilated cardiomyopathy 1E, Progressive familial heart block, type 1A,
Migraine, Primary dilated cardiomyopathy, Hemiplegia,
...see more
Uncertain significance
(Dec 7, 2022)
criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr3:38595800
GRCh38:
Chr3:38554309
SCN5AD1595N, D1594N, D1541N, D1577N, D1576Nnot provided, Brugada syndrome, Atrial fibrillation, familial, 10
Pathogenic/Likely pathogenic
(Apr 7, 2023)
criteria provided, multiple submitters, no conflicts