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Items: 1 to 100 of 219

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr3:38603989
GRCh38:
Chr3:38562498
SCN5AA1240T, A1293T, A1294TBrugada syndrome 1, Dilated cardiomyopathy 1E, Sick sinus syndrome 1,
Progressive familial heart block, type 1A, Atrial fibrillation, familial, 10, Long QT syndrome 3,
Ventricular fibrillation, paroxysmal familial, type 1, SUDDEN INFANT DEATH SYNDROME		Uncertain significance
(Mar 30, 2021)		criteria provided, single submitter
2.
GRCh37:
Chr3:38651399
GRCh38:
Chr3:38609908
SCN5AM254Lnot provided, Brugada syndrome 1, SUDDEN INFANT DEATH SYNDROME,
Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E, Long QT syndrome 3,
Sick sinus syndrome 1, Progressive familial heart block, type 1A, Atrial fibrillation, familial, 10
Uncertain significance
(Feb 11, 2022)		criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr3:38592912
GRCh38:
Chr3:38551421
SCN5AM1597L, M1618L, M1632L, M1633L, M1650L, M1651Lnot provided, Brugada syndrome 1, SUDDEN INFANT DEATH SYNDROME,
Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E, Long QT syndrome 3,
Sick sinus syndrome 1, Progressive familial heart block, type 1A, Atrial fibrillation, familial, 10
Uncertain significance
(Oct 8, 2021)		criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr3:38616850
GRCh38:
Chr3:38575359
SCN5AV1202M, V1148M, V1201MBrugada syndrome, Cardiovascular phenotype, Atrial fibrillation, familial, 10,
Sick sinus syndrome 1, Progressive familial heart block, type 1A, Long QT syndrome 3,
Ventricular fibrillation, paroxysmal familial, type 1, SUDDEN INFANT DEATH SYNDROME, Dilated cardiomyopathy 1E,
Brugada syndrome 1		Uncertain significance
(Mar 9, 2023)		criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr3:38627370
GRCh38:
Chr3:38585879
SCN5AE867KBrugada syndrome, Atrial fibrillation, familial, 10, Sick sinus syndrome 1,
Progressive familial heart block, type 1A, Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1,
SUDDEN INFANT DEATH SYNDROME, Dilated cardiomyopathy 1E, Brugada syndrome 1
Uncertain significance
(Sep 29, 2021)		criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr3:38639202
GRCh38:
Chr3:38597711
SCN5AAtrial fibrillation, familial, 10, Brugada syndrome 1, Sick sinus syndrome 1,
Progressive familial heart block, type 1A, Dilated cardiomyopathy 1E, Ventricular fibrillation, paroxysmal familial, type 1,
Long QT syndrome 3, SUDDEN INFANT DEATH SYNDROME, Brugada syndrome
Uncertain significance
(Feb 1, 2022)		criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr3:38627307
GRCh38:
Chr3:38585816
SCN5AF888LBrugada syndrome, Atrial fibrillation, familial, 10, Cardiovascular phenotype
Uncertain significance
(Nov 18, 2022)		criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr3:38592372
GRCh38:
Chr3:38550881
SCN5AN1777H, N1798H, N1812H, N1813H, N1830H, N1831HCardiac arrhythmia, Dilated cardiomyopathy 1E, Long QT syndrome 3,
Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A, SUDDEN INFANT DEATH SYNDROME,
Sick sinus syndrome 1, Brugada syndrome 1, Atrial fibrillation, familial, 10
Uncertain significance
(Oct 11, 2021)		criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr3:38603953
GRCh38:
Chr3:38562462
SCN5AR1252G, R1305G, R1306GLong QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E,
SUDDEN INFANT DEATH SYNDROME, Atrial fibrillation, familial, 10, Brugada syndrome 1,
Sick sinus syndrome 1, Progressive familial heart block, type 1A, not provided
Uncertain significance
(Jan 21, 2022)		criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr3:38671925
GRCh38:
Chr3:38630434
SCN5ABrugada syndrome, Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1,
Dilated cardiomyopathy 1E, SUDDEN INFANT DEATH SYNDROME, Atrial fibrillation, familial, 10,
Brugada syndrome 1, Sick sinus syndrome 1, Progressive familial heart block, type 1A,
Cardiovascular phenotype, not provided ...see more		Uncertain significance
(Mar 7, 2022)		criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr3:38592774
GRCh38:
Chr3:38551283
SCN5AF1643L, F1664L, F1678L, F1679L, F1696L, F1697LCardiac arrhythmia, SUDDEN INFANT DEATH SYNDROME, Dilated cardiomyopathy 1E,
Long QT syndrome 3, Brugada syndrome 1, Atrial fibrillation, familial, 10,
Progressive familial heart block, type 1A, Ventricular fibrillation, paroxysmal familial, type 1, Sick sinus syndrome 1
Uncertain significance
(Jul 26, 2021)		criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr3:38616921
GRCh38:
Chr3:38575430
SCN5AC1124S, C1177S, C1178SCardiac arrhythmia, SUDDEN INFANT DEATH SYNDROME, Dilated cardiomyopathy 1E,
Long QT syndrome 3, Brugada syndrome 1, Atrial fibrillation, familial, 10,
Progressive familial heart block, type 1A, Ventricular fibrillation, paroxysmal familial, type 1, Sick sinus syndrome 1,
Brugada syndrome		Uncertain significance
(Aug 24, 2021)		criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr3:38618163
GRCh38:
Chr3:38576672
SCN5AC1113Y, C1166Y, C1167YSUDDEN INFANT DEATH SYNDROME, Dilated cardiomyopathy 1E, Long QT syndrome 3,
Brugada syndrome 1, Atrial fibrillation, familial, 10, Progressive familial heart block, type 1A,
Ventricular fibrillation, paroxysmal familial, type 1, Sick sinus syndrome 1, not provided,
Cardiac arrhythmia, Brugada syndrome ...see more		Uncertain significance
(Aug 21, 2022)		criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr3:38591951-38591952
GRCh38:
Chr3:38550460-38550461
SCN5ACardiac arrhythmia, SUDDEN INFANT DEATH SYNDROME, Dilated cardiomyopathy 1E,
Long QT syndrome 3, Brugada syndrome 1, Atrial fibrillation, familial, 10,
Progressive familial heart block, type 1A, Ventricular fibrillation, paroxysmal familial, type 1, Sick sinus syndrome 1
Uncertain significance
(Oct 14, 2021)		criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr3:38645299
GRCh38:
Chr3:38603808
SCN5ALong QT syndrome 3, Atrial fibrillation, familial, 10, Brugada syndrome 1,
Sick sinus syndrome 1, SUDDEN INFANT DEATH SYNDROME, Progressive familial heart block, type 1A,
Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E, Brugada syndrome
Conflicting interpretations of pathogenicity
(Mar 30, 2021)		criteria provided, conflicting interpretations
16.
GRCh37:
Chr3:38627275
GRCh38:
Chr3:38585784
SCN5ABrugada syndrome 1, Long QT syndrome 3, SUDDEN INFANT DEATH SYNDROME,
Sick sinus syndrome 1, Progressive familial heart block, type 1A, Ventricular fibrillation, paroxysmal familial, type 1,
Dilated cardiomyopathy 1E, Atrial fibrillation, familial, 10, Brugada syndrome,
Cardiovascular phenotype		Likely benign
(Oct 9, 2021)		criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr3:38645416
GRCh38:
Chr3:38603925
SCN5ACardiovascular phenotype, Brugada syndrome, Cardiac arrhythmia,
SUDDEN INFANT DEATH SYNDROME, Sick sinus syndrome 1, Atrial fibrillation, familial, 10,
Progressive familial heart block, type 1A, Dilated cardiomyopathy 1E, Long QT syndrome 3,
Ventricular fibrillation, paroxysmal familial, type 1, Brugada syndrome 1 ...see more		Likely benign
(Oct 7, 2022)		criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr3:38651373
GRCh38:
Chr3:38609882
SCN5ABrugada syndrome, Sick sinus syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1,
Brugada syndrome 1, Progressive familial heart block, type 1A, SUDDEN INFANT DEATH SYNDROME,
Long QT syndrome 3, Dilated cardiomyopathy 1E, Atrial fibrillation, familial, 10
Likely benign
(Apr 8, 2022)		criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr3:38662437
GRCh38:
Chr3:38620946
SCN5AF170IBrugada syndrome, Dilated cardiomyopathy 1E, SUDDEN INFANT DEATH SYNDROME,
Sick sinus syndrome 1, Brugada syndrome 1, Long QT syndrome 3,
Progressive familial heart block, type 1A, Atrial fibrillation, familial, 10, Ventricular fibrillation, paroxysmal familial, type 1,
not provided		Uncertain significance
(Apr 15, 2022)		criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr3:38629052
GRCh38:
Chr3:38587561
SCN5AI759VCardiac arrhythmia, Cardiovascular phenotype, Brugada syndrome,
Long QT syndrome 3, Dilated cardiomyopathy 1E, Atrial fibrillation, familial, 10,
Brugada syndrome 1, SUDDEN INFANT DEATH SYNDROME, Sick sinus syndrome 1,
Progressive familial heart block, type 1A, Ventricular fibrillation, paroxysmal familial, type 1 ...see more		Uncertain significance
(Oct 16, 2021)		criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr3:38645480
GRCh38:
Chr3:38603989
SCN5AG538VBrugada syndrome, Long QT syndrome 3, Dilated cardiomyopathy 1E,
Atrial fibrillation, familial, 10, Brugada syndrome 1, SUDDEN INFANT DEATH SYNDROME,
Sick sinus syndrome 1, Progressive familial heart block, type 1A, Ventricular fibrillation, paroxysmal familial, type 1
Uncertain significance
(Apr 18, 2022)		criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr3:38592324
GRCh38:
Chr3:38550833
SCN5AR1793G, R1814G, R1828G, R1829G, R1846G, R1847GBrugada syndrome, Atrial fibrillation, familial, 10, Dilated cardiomyopathy 1E,
Sick sinus syndrome 1, Long QT syndrome 3, Progressive familial heart block, type 1A,
Ventricular fibrillation, paroxysmal familial, type 1, SUDDEN INFANT DEATH SYNDROME, Brugada syndrome 1
Uncertain significance
(Aug 22, 2022)		criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr3:38592236
GRCh38:
Chr3:38550745
SCN5AE1822V, E1843V, E1857V, E1858V, E1875V, E1876VBrugada syndrome, Atrial fibrillation, familial, 10, Dilated cardiomyopathy 1E,
Sick sinus syndrome 1, Long QT syndrome 3, Progressive familial heart block, type 1A,
Ventricular fibrillation, paroxysmal familial, type 1, SUDDEN INFANT DEATH SYNDROME, Brugada syndrome 1
Uncertain significance
(Dec 3, 2021)		criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr3:38592049
GRCh38:
Chr3:38550558
SCN5AE1884D, E1905D, E1919D, E1920D, E1937D, E1938DLeft ventricular noncompaction 1, Ventricular fibrillation, paroxysmal familial, type 1, Atrial fibrillation, familial, 10,
Long QT syndrome 3, SUDDEN INFANT DEATH SYNDROME, Brugada syndrome 1,
Sick sinus syndrome 1, Dilated cardiomyopathy 1E, Progressive familial heart block, type 1A
Uncertain significance
(Aug 11, 2021)		criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr3:38622582
GRCh38:
Chr3:38581091
LOC110121269, SCN5AR1023PVentricular fibrillation, paroxysmal familial, type 1, Atrial fibrillation, familial, 10, Long QT syndrome 3,
SUDDEN INFANT DEATH SYNDROME, Brugada syndrome 1, Sick sinus syndrome 1,
Dilated cardiomyopathy 1E, Progressive familial heart block, type 1A, Cardiovascular phenotype,
Brugada syndrome		Uncertain significance
(May 11, 2022)		criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr3:38595967
GRCh38:
Chr3:38554476
SCN5AC1485Y, C1520Y, C1521Y, C1538Y, C1539YCardiovascular phenotype, SUDDEN INFANT DEATH SYNDROME, Progressive familial heart block, type 1A,
Sick sinus syndrome 1, Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1,
Brugada syndrome 1, Dilated cardiomyopathy 1E, Atrial fibrillation, familial, 10,
Brugada syndrome		Uncertain significance
(Sep 1, 2021)		criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr3:38663915
GRCh38:
Chr3:38622424
SCN5AP153LBrugada syndrome, Ventricular fibrillation, paroxysmal familial, type 1, Atrial fibrillation, familial, 10,
Brugada syndrome 1, Dilated cardiomyopathy 1E, Long QT syndrome 3,
Sick sinus syndrome 1, Progressive familial heart block, type 1A, SUDDEN INFANT DEATH SYNDROME
Uncertain significance
(Jul 25, 2022)		criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr3:38591853
GRCh38:
Chr3:38550362
SCN5AF1971I, F2004I, F1950I, F1985I, F2003I, F1986ICardiovascular phenotype, Cardiac arrhythmia, SUDDEN INFANT DEATH SYNDROME,
Atrial fibrillation, familial, 10, Sick sinus syndrome 1, Progressive familial heart block, type 1A,
Brugada syndrome 1, Dilated cardiomyopathy 1E, Long QT syndrome 3,
Ventricular fibrillation, paroxysmal familial, type 1, Brugada syndrome ...see more		Uncertain significance
(Jul 13, 2022)		criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr3:38645234
GRCh38:
Chr3:38603743
SCN5AR620HCardiac arrhythmia, SUDDEN INFANT DEATH SYNDROME, Atrial fibrillation, familial, 10,
Sick sinus syndrome 1, Progressive familial heart block, type 1A, Brugada syndrome 1,
Dilated cardiomyopathy 1E, Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1,
Brugada syndrome		Uncertain significance
(Oct 13, 2022)		criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr3:38618272
GRCh38:
Chr3:38576781
SCN5AT1077S, T1131S, T1130SCardiac arrhythmia, SUDDEN INFANT DEATH SYNDROME, Atrial fibrillation, familial, 10,
Sick sinus syndrome 1, Progressive familial heart block, type 1A, Brugada syndrome 1,
Dilated cardiomyopathy 1E, Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1
Uncertain significance
(Sep 29, 2021)		criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr3:38646350
GRCh38:
Chr3:38604859
SCN5AM463RCardiac arrhythmia, Brugada syndrome, SUDDEN INFANT DEATH SYNDROME,
Atrial fibrillation, familial, 10, Sick sinus syndrome 1, Progressive familial heart block, type 1A,
Brugada syndrome 1, Dilated cardiomyopathy 1E, Long QT syndrome 3,
Ventricular fibrillation, paroxysmal familial, type 1		Uncertain significance
(Aug 26, 2021)		criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr3:38620907
GRCh38:
Chr3:38579416
LOC110121269, SCN5AS1102F, S1103FCardiac arrhythmia, not provided, Brugada syndrome,
SUDDEN INFANT DEATH SYNDROME, Atrial fibrillation, familial, 10, Sick sinus syndrome 1,
Progressive familial heart block, type 1A, Brugada syndrome 1, Dilated cardiomyopathy 1E,
Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1 ...see more		Uncertain significance
(Jul 20, 2022)		criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr3:38616874
GRCh38:
Chr3:38575383
SCN5AL1140M, L1193M, L1194Mnot provided, Cardiac arrhythmia, SUDDEN INFANT DEATH SYNDROME,
Atrial fibrillation, familial, 10, Sick sinus syndrome 1, Progressive familial heart block, type 1A,
Brugada syndrome 1, Dilated cardiomyopathy 1E, Long QT syndrome 3,
Ventricular fibrillation, paroxysmal familial, type 1		Uncertain significance
(Oct 21, 2021)		criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr3:38616928
GRCh38:
Chr3:38575437
SCN5AC1175R, C1176R, C1122RCardiac arrhythmia, SUDDEN INFANT DEATH SYNDROME, Atrial fibrillation, familial, 10,
Sick sinus syndrome 1, Progressive familial heart block, type 1A, Brugada syndrome 1,
Dilated cardiomyopathy 1E, Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1
Uncertain significance
(Oct 8, 2021)		criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr3:38616887
GRCh38:
Chr3:38575396
SCN5ACardiac arrhythmia, SUDDEN INFANT DEATH SYNDROME, Atrial fibrillation, familial, 10,
Sick sinus syndrome 1, Progressive familial heart block, type 1A, Brugada syndrome 1,
Dilated cardiomyopathy 1E, Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1
Conflicting interpretations of pathogenicity
(Mar 30, 2021)		criteria provided, conflicting interpretations
36.
GRCh37:
Chr3:38640486
GRCh38:
Chr3:38598995
SCN5AC649YCardiovascular phenotype, Cardiac arrhythmia, SUDDEN INFANT DEATH SYNDROME,
Atrial fibrillation, familial, 10, Sick sinus syndrome 1, Progressive familial heart block, type 1A,
Brugada syndrome 1, Dilated cardiomyopathy 1E, Long QT syndrome 3,
Ventricular fibrillation, paroxysmal familial, type 1, Brugada syndrome ...see more		Uncertain significance
(Nov 2, 2021)		criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr3:38592005
GRCh38:
Chr3:38550514
SCN5AS1899N, S1952N, S1920N, S1953N, S1935N, S1934NCardiovascular phenotype, Cardiac arrhythmia, SUDDEN INFANT DEATH SYNDROME,
Atrial fibrillation, familial, 10, Sick sinus syndrome 1, Progressive familial heart block, type 1A,
Brugada syndrome 1, Dilated cardiomyopathy 1E, Long QT syndrome 3,
Ventricular fibrillation, paroxysmal familial, type 1		Conflicting interpretations of pathogenicity
(Oct 6, 2021)		criteria provided, conflicting interpretations
38.
GRCh37:
Chr3:38592406-38592408
GRCh38:
Chr3:38550915-38550917
SCN5AD1801N, D1819N, D1786N, D1818N, D1765N, D1800NCardiovascular phenotype, Cardiac arrhythmia, SUDDEN INFANT DEATH SYNDROME,
Atrial fibrillation, familial, 10, Sick sinus syndrome 1, Progressive familial heart block, type 1A,
Brugada syndrome 1, Dilated cardiomyopathy 1E, Long QT syndrome 3,
Ventricular fibrillation, paroxysmal familial, type 1		Conflicting interpretations of pathogenicity
(Jan 11, 2023)		criteria provided, conflicting interpretations
39.
GRCh37:
Chr3:38640477
GRCh38:
Chr3:38598986
SCN5AG652DBrugada syndrome, SUDDEN INFANT DEATH SYNDROME, Atrial fibrillation, familial, 10,
Sick sinus syndrome 1, Progressive familial heart block, type 1A, Brugada syndrome 1,
Dilated cardiomyopathy 1E, Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1,
Cardiac arrhythmia, not provided ...see more		Uncertain significance
(Sep 12, 2022)		criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr3:38674570
GRCh38:
Chr3:38633079
SCN5AG77RBrugada syndrome, Cardiac arrhythmia, SUDDEN INFANT DEATH SYNDROME,
Atrial fibrillation, familial, 10, Sick sinus syndrome 1, Progressive familial heart block, type 1A,
Brugada syndrome 1, Dilated cardiomyopathy 1E, Long QT syndrome 3,
Ventricular fibrillation, paroxysmal familial, type 1		Uncertain significance
(Apr 12, 2022)		criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr3:38629033
GRCh38:
Chr3:38587542
SCN5AT765IBrugada syndrome 1, Long QT syndrome 3, Progressive familial heart block, type 1A,
Ventricular fibrillation, paroxysmal familial, type 1, SUDDEN INFANT DEATH SYNDROME, Atrial fibrillation, familial, 10,
Sick sinus syndrome 1, Dilated cardiomyopathy 1E, Cardiovascular phenotype,
Brugada syndrome		Uncertain significance
(Feb 16, 2022)		criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr3:38592495
GRCh38:
Chr3:38551004
SCN5AD1736N, D1757N, D1790N, D1789N, D1771N, D1772NBrugada syndrome 1, Long QT syndrome 3, Progressive familial heart block, type 1A,
Ventricular fibrillation, paroxysmal familial, type 1, SUDDEN INFANT DEATH SYNDROME, Atrial fibrillation, familial, 10,
Sick sinus syndrome 1, Dilated cardiomyopathy 1E, Brugada syndrome
Uncertain significance
(Dec 24, 2021)		criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr3:38646281
GRCh38:
Chr3:38604790
SCN5AT486SBrugada syndrome 1, Long QT syndrome 3, Progressive familial heart block, type 1A,
Ventricular fibrillation, paroxysmal familial, type 1, SUDDEN INFANT DEATH SYNDROME, Atrial fibrillation, familial, 10,
Sick sinus syndrome 1, Dilated cardiomyopathy 1E, Brugada syndrome
Uncertain significance
(Mar 12, 2022)		criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr3:38671878
GRCh38:
Chr3:38630387
SCN5AS106GBrugada syndrome, SUDDEN INFANT DEATH SYNDROME, Brugada syndrome 1,
Dilated cardiomyopathy 1E, Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1,
Atrial fibrillation, familial, 10, Sick sinus syndrome 1, Progressive familial heart block, type 1A,
Cardiac arrhythmia		Uncertain significance
(Mar 18, 2022)		criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr3:38627348
GRCh38:
Chr3:38585857
SCN5AG874DBrugada syndrome 1, Progressive familial heart block, type 1A, SUDDEN INFANT DEATH SYNDROME,
Sick sinus syndrome 1, Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1,
Dilated cardiomyopathy 1E, Atrial fibrillation, familial, 10, Brugada syndrome
Uncertain significance
(Aug 28, 2021)		criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr3:38674553
GRCh38:
Chr3:38633062
SCN5AD82ECardiovascular phenotype, Brugada syndrome, Cardiac arrhythmia,
Long QT syndrome 3, Atrial fibrillation, familial, 10, Sick sinus syndrome 1,
Brugada syndrome 1, Progressive familial heart block, type 1A, Dilated cardiomyopathy 1E,
SUDDEN INFANT DEATH SYNDROME, Ventricular fibrillation, paroxysmal familial, type 1not provided,
...see more		Uncertain significance
(Mar 1, 2022)		criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr3:38646221
GRCh38:
Chr3:38604730
SCN5AM506KBrugada syndrome, Cardiac arrhythmia, Long QT syndrome 3,
Atrial fibrillation, familial, 10, Sick sinus syndrome 1, Brugada syndrome 1,
Progressive familial heart block, type 1A, Dilated cardiomyopathy 1E, SUDDEN INFANT DEATH SYNDROME,
Ventricular fibrillation, paroxysmal familial, type 1, not provided ...see more		Uncertain significance
(Oct 18, 2021)		criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr3:38674631
GRCh38:
Chr3:38633140
SCN5ABrugada syndrome, Long QT syndrome 3, Atrial fibrillation, familial, 10,
Progressive familial heart block, type 1A, Brugada syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1,
Sick sinus syndrome 1, Dilated cardiomyopathy 1E, SUDDEN INFANT DEATH SYNDROME
Likely benign
(Jul 26, 2021)		criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr3:38640440
GRCh38:
Chr3:38598949
SCN5ACardiovascular phenotype, Long QT syndrome 3, Dilated cardiomyopathy 1E,
Brugada syndrome 1, Progressive familial heart block, type 1A, Sick sinus syndrome 1,
Ventricular fibrillation, paroxysmal familial, type 1, SUDDEN INFANT DEATH SYNDROME, Atrial fibrillation, familial, 10,
Brugada syndrome, Cardiac arrhythmia ...see more		Likely benign
(Sep 1, 2021)		criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr3:38603922
GRCh38:
Chr3:38562431
SCN5AR1262Q, R1315Q, R1316QCardiac arrhythmia, Brugada syndrome 1, Sick sinus syndrome 1,
Progressive familial heart block, type 1A, Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E,
Long QT syndrome 3, SUDDEN INFANT DEATH SYNDROME, Atrial fibrillation, familial, 10,
Brugada syndrome		Uncertain significance
(Jun 13, 2022)		criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr3:38618221
GRCh38:
Chr3:38576730
SCN5AA1094T, A1147T, A1148TBrugada syndrome, Cardiac arrhythmia, Long QT syndrome 3,
Ventricular fibrillation, paroxysmal familial, type 1, Atrial fibrillation, familial, 10, Sick sinus syndrome 1,
Progressive familial heart block, type 1A, Brugada syndrome 1, Dilated cardiomyopathy 1E,
SUDDEN INFANT DEATH SYNDROME		Uncertain significance
(Oct 18, 2022)		criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr3:38639300
GRCh38:
Chr3:38597809
SCN5AV728ICardiac arrhythmia, not specified, Brugada syndrome,
Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1, Atrial fibrillation, familial, 10,
Sick sinus syndrome 1, Progressive familial heart block, type 1A, Brugada syndrome 1,
Dilated cardiomyopathy 1E, SUDDEN INFANT DEATH SYNDROMECardiovascular phenotype,
not provided, ...see more		Uncertain significance
(Sep 7, 2022)		criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr3:38645487
GRCh38:
Chr3:38603996
SCN5AD536HCardiac arrhythmia, Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1,
Atrial fibrillation, familial, 10, Sick sinus syndrome 1, Progressive familial heart block, type 1A,
Brugada syndrome 1, Dilated cardiomyopathy 1E, SUDDEN INFANT DEATH SYNDROME
Uncertain significance
(Sep 30, 2021)		criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr3:38592457
GRCh38:
Chr3:38550966
SCN5AD1801E, D1802E, D1769E, D1784E, D1748E, D1783EBrugada syndrome, Cardiac arrhythmia, Long QT syndrome 3,
Ventricular fibrillation, paroxysmal familial, type 1, Atrial fibrillation, familial, 10, Sick sinus syndrome 1,
Progressive familial heart block, type 1A, Brugada syndrome 1, Dilated cardiomyopathy 1E,
SUDDEN INFANT DEATH SYNDROME		Uncertain significance
(May 25, 2022)		criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr3:38655554
GRCh38:
Chr3:38614063
SCN5AY205*Cardiac arrhythmia, Dilated cardiomyopathy 1E, SCN5A-Related Disorders,
Atrial fibrillation, familial, 10, Long QT syndrome 3, Brugada syndrome 1
Conflicting interpretations of pathogenicity
(Nov 11, 2018)		criteria provided, conflicting interpretations
56.
GRCh37:
Chr3:38655321
GRCh38:
Chr3:38613830
SCN5AT206SCardiovascular phenotype, SUDDEN INFANT DEATH SYNDROME, Ventricular fibrillation, paroxysmal familial, type 1,
Brugada syndrome 1, Sick sinus syndrome 1, Atrial fibrillation, familial, 10,
Long QT syndrome 3, Progressive familial heart block, type 1A, Dilated cardiomyopathy 1E,
Brugada syndrome		Uncertain significance
(Apr 20, 2022)		criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr3:38592068
GRCh38:
Chr3:38550577
SCN5AA1931V, A1932V, A1878V, A1899V, A1913V, A1914VCardiac arrhythmia, Long QT syndrome 3, Progressive familial heart block, type 1A,
SUDDEN INFANT DEATH SYNDROME, Sick sinus syndrome 1, Dilated cardiomyopathy 1E,
Atrial fibrillation, familial, 10, Brugada syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1,
Primary dilated cardiomyopathy, Cardiovascular phenotypeBrugada syndrome,
...see more		Conflicting interpretations of pathogenicity
(May 22, 2023)		criteria provided, conflicting interpretations
58.
GRCh37:
Chr3:38592488
GRCh38:
Chr3:38550997
SCN5AD1791V, D1792V, D1759V, D1774V, D1738V, D1773VBrugada syndrome 1, SUDDEN INFANT DEATH SYNDROME, Long QT syndrome 3,
Sick sinus syndrome 1, Progressive familial heart block, type 1A, Ventricular fibrillation, paroxysmal familial, type 1,
Dilated cardiomyopathy 1E, Atrial fibrillation, familial, 10, Brugada syndrome
Uncertain significance
(May 18, 2022)		criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr3:38622571
GRCh38:
Chr3:38581080
LOC110121269, SCN5AR1027WCardiac arrhythmia, Long QT syndrome 3, Progressive familial heart block, type 1A,
SUDDEN INFANT DEATH SYNDROME, Sick sinus syndrome 1, Dilated cardiomyopathy 1E,
Atrial fibrillation, familial, 10, Brugada syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1,
Cardiovascular phenotype, Brugada syndrome ...see more		Uncertain significance
(Aug 16, 2022)		criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr3:38651266
GRCh38:
Chr3:38609775
SCN5AG298DBrugada syndrome 1, SUDDEN INFANT DEATH SYNDROME, Long QT syndrome 3,
Sick sinus syndrome 1, Progressive familial heart block, type 1A, Ventricular fibrillation, paroxysmal familial, type 1,
Dilated cardiomyopathy 1E, Atrial fibrillation, familial, 10, Brugada syndrome
Uncertain significance
(Oct 20, 2021)		criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr3:38671826
GRCh38:
Chr3:38630335
SCN5AA123VCardiac arrhythmia, not specified, Long QT syndrome 3,
Progressive familial heart block, type 1A, SUDDEN INFANT DEATH SYNDROME, Sick sinus syndrome 1,
Dilated cardiomyopathy 1E, Atrial fibrillation, familial, 10, Brugada syndrome 1,
Ventricular fibrillation, paroxysmal familial, type 1, Brugada syndrome ...see more		Uncertain significance
(Sep 23, 2022)		criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr3:38645496
GRCh38:
Chr3:38604005
SCN5AR533CCardiac arrhythmia, Long QT syndrome 3, Progressive familial heart block, type 1A,
SUDDEN INFANT DEATH SYNDROME, Sick sinus syndrome 1, Dilated cardiomyopathy 1E,
Atrial fibrillation, familial, 10, Brugada syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1,
Cardiovascular phenotype, Brugada syndrome ...see more		Uncertain significance
(Aug 16, 2022)		criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr3:38639444
GRCh38:
Chr3:38597953
SCN5AR680CCardiac arrhythmia, Cardiovascular phenotype, Long QT syndrome 3,
Progressive familial heart block, type 1A, SUDDEN INFANT DEATH SYNDROME, Sick sinus syndrome 1,
Dilated cardiomyopathy 1E, Atrial fibrillation, familial, 10, Brugada syndrome 1,
Ventricular fibrillation, paroxysmal familial, type 1, Brugada syndromeVentricular fibrillation, paroxysmal familial, type 1,
Progressive familial heart block, type 1A, Dilated cardiomyopathy 1E, Long QT syndrome 3,
Brugada syndrome 1, Sick sinus syndrome 1, ...see more		Uncertain significance
(Oct 13, 2022)		criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr3:38622502
GRCh38:
Chr3:38581011
LOC110121269, SCN5AA1050TCardiac arrhythmia, Long QT syndrome 3, Progressive familial heart block, type 1A,
SUDDEN INFANT DEATH SYNDROME, Sick sinus syndrome 1, Dilated cardiomyopathy 1E,
Atrial fibrillation, familial, 10, Brugada syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1,
not provided, Brugada syndrome ...see more		Conflicting interpretations of pathogenicity
(Jul 11, 2023)		criteria provided, conflicting interpretations
65.
GRCh37:
Chr3:38592405-38592406
GRCh38:
Chr3:38550914-38550915
SCN5AA1802T, A1820T, A1819T, A1766T, A1787T, A1801TCardiac arrhythmia, Long QT syndrome 3, Progressive familial heart block, type 1A,
Sick sinus syndrome 1, Brugada syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1,
SUDDEN INFANT DEATH SYNDROME, Atrial fibrillation, familial, 10, Dilated cardiomyopathy 1E,
Brugada syndrome, not specified ...see more		Uncertain significance
(Aug 9, 2022)		criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr3:38620911
GRCh38:
Chr3:38579420
LOC110121269, SCN5AA1102T, A1101TBrugada syndrome 1, Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1,
SUDDEN INFANT DEATH SYNDROME, Atrial fibrillation, familial, 10, Dilated cardiomyopathy 1E,
Sick sinus syndrome 1, Progressive familial heart block, type 1A, Brugada syndrome,
Cardiovascular phenotype		Conflicting interpretations of pathogenicity
(Aug 10, 2022)		criteria provided, conflicting interpretations
67.
GRCh37:
Chr3:38591856
GRCh38:
Chr3:38550365
SCN5AD2002N, D2003N, D1949N, D1984N, D1970N, D1985NAtrial fibrillation, familial, 10, Brugada syndrome 1, Long QT syndrome 3,
Ventricular fibrillation, paroxysmal familial, type 1, SUDDEN INFANT DEATH SYNDROME, Atrial fibrillation, familial, 10,
Dilated cardiomyopathy 1E, Sick sinus syndrome 1, Progressive familial heart block, type 1A,
not specified, Brugada syndromeCardiovascular phenotype,
not provided, ...see more		Uncertain significance
(Aug 16, 2022)		criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr3:38622570
GRCh38:
Chr3:38581079
LOC110121269, SCN5AR1027QCardiac arrhythmia, not specified, not provided,
Brugada syndrome 1, Long QT syndrome 3, Dilated cardiomyopathy 1E,
SUDDEN INFANT DEATH SYNDROME, Atrial fibrillation, familial, 10, Ventricular fibrillation, paroxysmal familial, type 1,
Sick sinus syndrome 1, Progressive familial heart block, type 1ACardiovascular phenotype,
Brugada syndrome, ...see more		Conflicting interpretations of pathogenicity
(Oct 13, 2022)		criteria provided, conflicting interpretations
69.
GRCh37:
Chr3:38628895
GRCh38:
Chr3:38587404
SCN5AR811HCardiovascular phenotype, Sick sinus syndrome 1, SUDDEN INFANT DEATH SYNDROME,
Brugada syndrome 1, Atrial fibrillation, familial, 10, Dilated cardiomyopathy 1E,
Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A, Long QT syndrome 3,
Brugada syndrome		Uncertain significance
(Jun 25, 2022)		criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr3:38622435-38622436
GRCh38:
Chr3:38580944-38580945
LOC110121269, SCN5AE1072Snot provided, Brugada syndrome, Dilated cardiomyopathy 1E,
Sick sinus syndrome 1, Progressive familial heart block, type 1A, SUDDEN INFANT DEATH SYNDROME,
Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1, Brugada syndrome 1,
Atrial fibrillation, familial, 10, Cardiovascular phenotypeCardiac arrhythmia,
...see more		Uncertain significance
(Nov 3, 2022)		criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr3:38671914
GRCh38:
Chr3:38630423
SCN5AI94Vnot specified, not provided, Cardiac arrhythmia,
Brugada syndrome 1, Atrial fibrillation, familial, 10, Progressive familial heart block, type 1A,
Sick sinus syndrome 1, SUDDEN INFANT DEATH SYNDROME, Long QT syndrome 3,
Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1ECardiovascular phenotype,
Brugada syndrome, ...see more		Uncertain significance
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr3:38627372
GRCh38:
Chr3:38585881
SCN5AS866LBrugada syndrome, Cardiac arrhythmia, not specified,
Cardiovascular phenotype, Brugada syndrome 1, Atrial fibrillation, familial, 10,
Progressive familial heart block, type 1A, Sick sinus syndrome 1, SUDDEN INFANT DEATH SYNDROME,
Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1Dilated cardiomyopathy 1E,
...see more		Uncertain significance
(Jun 12, 2023)		criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr3:38645536
GRCh38:
Chr3:38604045
SCN5ACardiac arrhythmia, Brugada syndrome, Cardiovascular phenotype,
Brugada syndrome 1, Atrial fibrillation, familial, 10, Progressive familial heart block, type 1A,
Sick sinus syndrome 1, SUDDEN INFANT DEATH SYNDROME, Long QT syndrome 3,
Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E ...see more		Likely benign
(Oct 24, 2022)		criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr3:38601913
GRCh38:
Chr3:38560422
SCN5AV1323I, V1324I, V1270ICardiac arrhythmia, Brugada syndrome 1, Atrial fibrillation, familial, 10,
Progressive familial heart block, type 1A, Sick sinus syndrome 1, SUDDEN INFANT DEATH SYNDROME,
Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E,
not provided, Brugada syndrome ...see more		Uncertain significance
(Nov 17, 2021)		criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr3:38628929
GRCh38:
Chr3:38587438
SCN5AR800CCardiac arrhythmia, not provided, Brugada syndrome 1,
Atrial fibrillation, familial, 10, Progressive familial heart block, type 1A, Sick sinus syndrome 1,
SUDDEN INFANT DEATH SYNDROME, Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1,
Dilated cardiomyopathy 1E, Cardiovascular phenotypeBrugada syndrome,
...see more		Uncertain significance
(Jun 9, 2023)		criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr3:38645420
Chr3:38645558
GRCh38:
Chr3:38603929
Chr3:38604067
SCN5A, SCN5AH558R, T512IProgressive familial heart block, type 1APathogenic
(Apr 15, 2008)		no assertion criteria provided
77.
GRCh37:
Chr3:38608046
Chr3:38593004
GRCh38:
Chr3:38566555
Chr3:38551513
SCN5A, SCN5AR1232W, R1231W, R1178W, T1620M, T1619M, T1566M, T1587M, T1601M, T1602MBrugada syndrome 1Pathogenic
(Jan 4, 2000)		no assertion criteria provided
78.
GRCh37:
Chr3:38639405
GRCh38:
Chr3:38597914
SCN5AR693CCardiac arrhythmia, Brugada syndrome, not specified,
Cardiovascular phenotype, Ventricular fibrillation, paroxysmal familial, type 1, Brugada syndrome 1,
Sick sinus syndrome 1, Dilated cardiomyopathy 1E, Long QT syndrome 3,
Progressive familial heart block, type 1A, SUDDEN INFANT DEATH SYNDROMEAtrial fibrillation, familial, 10,
...see more		Uncertain significance
(Nov 18, 2022)		criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr3:38616930
GRCh38:
Chr3:38575439
SCN5AR1174H, R1175H, R1121HBrugada syndrome, Sick sinus syndrome 1, Brugada syndrome 1,
Atrial fibrillation, familial, 10, Long QT syndrome 3, Progressive familial heart block, type 1A,
SUDDEN INFANT DEATH SYNDROME, Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E,
Cardiac arrhythmia, Cardiovascular phenotypenot provided,
...see more		Uncertain significance
(Sep 29, 2022)		criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr3:38646240
GRCh38:
Chr3:38604749
SCN5AE500KBrugada syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A,
SUDDEN INFANT DEATH SYNDROME, Long QT syndrome 3, Sick sinus syndrome 1,
Dilated cardiomyopathy 1E, Atrial fibrillation, familial, 10, Brugada syndrome
Uncertain significance
(Aug 7, 2022)		criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr3:38592173
GRCh38:
Chr3:38550682
SCN5AR1896Q, R1897Q, R1879Q, R1843Q, R1878Q, R1864QBrugada syndrome, Cardiac arrhythmia, Sick sinus syndrome 1,
Brugada syndrome 1, Atrial fibrillation, familial, 10, Long QT syndrome 3,
Progressive familial heart block, type 1A, SUDDEN INFANT DEATH SYNDROME, Ventricular fibrillation, paroxysmal familial, type 1,
Dilated cardiomyopathy 1E, Cardiovascular phenotype ...see more		Uncertain significance
(Aug 24, 2022)		criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr3:38592987
GRCh38:
Chr3:38551496
SCN5AR1625C, R1626C, R1607C, R1608C, R1572C, R1593CCardiac arrhythmia, Sick sinus syndrome 1, Brugada syndrome 1,
Atrial fibrillation, familial, 10, Long QT syndrome 3, Progressive familial heart block, type 1A,
SUDDEN INFANT DEATH SYNDROME, Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E,
not provided, Brugada syndrome ...see more		Conflicting interpretations of pathogenicity
(Mar 1, 2023)		criteria provided, conflicting interpretations
83.
GRCh37:
Chr3:38648249
GRCh38:
Chr3:38606758
SCN5AG351SBrugada syndrome, Brugada syndrome 1, Sick sinus syndrome 1,
Progressive familial heart block, type 1A, Cardiac arrhythmia, Sick sinus syndrome 1,
Brugada syndrome 1, Atrial fibrillation, familial, 10, Long QT syndrome 3,
Progressive familial heart block, type 1A, SUDDEN INFANT DEATH SYNDROMEVentricular fibrillation, paroxysmal familial, type 1,
Dilated cardiomyopathy 1E, Cardiovascular phenotype, Ventricular fibrillation, paroxysmal familial, type 1,
Dilated cardiomyopathy 1E, Long QT syndrome 3, ...see more		Uncertain significance
(Dec 7, 2021)		criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr3:38592443-38592446
GRCh38:
Chr3:38550952-38550955
SCN5AT1773fs, T1806fs, T1787fs, T1752fs, T1805fs, T1788fsCardiovascular phenotype, Brugada syndrome, Brugada syndrome 1,
Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A, SUDDEN INFANT DEATH SYNDROME,
Long QT syndrome 3, Sick sinus syndrome 1, Dilated cardiomyopathy 1E,
Atrial fibrillation, familial, 10		Pathogenic/Likely pathogenic
(Feb 7, 2022)		criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr3:38648263
GRCh38:
Chr3:38606772
SCN5AE346Gnot specified, Cardiac arrhythmia, Sick sinus syndrome 1,
Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E, Atrial fibrillation, familial, 10,
Long QT syndrome 3, Progressive familial heart block, type 1A, SUDDEN INFANT DEATH SYNDROME,
Brugada syndrome 1, Brugada syndromeCardiovascular phenotype,
...see more		Uncertain significance
(May 29, 2022)		criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr3:38622835
GRCh38:
Chr3:38581344
LOC110121269, SCN5AL939FProgressive familial heart block, SUDDEN INFANT DEATH SYNDROME, Dilated cardiomyopathy 1E,
Long QT syndrome 3, Sick sinus syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1,
Progressive familial heart block, type 1A, Brugada syndrome 1, Atrial fibrillation, familial, 10,
Dilated Cardiomyopathy, Dominant, Sick sinus syndromeParoxysmal familial ventricular fibrillation,
Congenital long QT syndrome, Brugada syndrome, Long QT syndrome,
...see more		Uncertain significance
(Aug 23, 2021)		criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr3:38618200
GRCh38:
Chr3:38576709
SCN5AP1154S, P1155S, P1101SSUDDEN INFANT DEATH SYNDROME, Dilated cardiomyopathy 1E, Long QT syndrome 3,
Sick sinus syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A,
Brugada syndrome 1, Atrial fibrillation, familial, 10, Cardiovascular phenotype,
not provided, Congenital long QT syndromeBrugada syndrome,
Dilated cardiomyopathy 1E, Long QT syndrome 3, Brugada syndrome 1,
Ventricular fibrillation, paroxysmal familial, type 1, Sick sinus syndrome 1, Progressive familial heart block, type 1A,
...see more		Uncertain significance
(Jul 12, 2022)		criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr3:38591892
GRCh38:
Chr3:38550401
SCN5AR1990W, R1991W, R1972W, R1937W, R1958W, R1973WBrugada syndrome, Dilated cardiomyopathy 1E, Progressive familial heart block, type 1A,
Sick sinus syndrome 1, Brugada syndrome 1, Congenital long QT syndrome,
Long QT syndrome 3, Cardiac arrhythmia, not specified,
Long QT syndrome 3, Progressive familial heart block, type 1AVentricular fibrillation, paroxysmal familial, type 1,
Dilated cardiomyopathy 1E, SUDDEN INFANT DEATH SYNDROME, Brugada syndrome 1,
Atrial fibrillation, familial, 10, Sick sinus syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1,
...see more		Uncertain significance
(May 16, 2023)		criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr3:38591608
GRCh38:
Chr3:38550117
SCN5ASUDDEN INFANT DEATH SYNDROME, Dilated cardiomyopathy 1E, Long QT syndrome 3,
Sick sinus syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A,
Brugada syndrome 1, Atrial fibrillation, familial, 10, Congenital long QT syndrome,
Brugada syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1Dilated cardiomyopathy 1E,
Progressive familial heart block, type 1A, Sick sinus syndrome 1, Long QT syndrome 3,
...see more		Uncertain significance
(Aug 23, 2021)		criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr3:38591430
GRCh38:
Chr3:38549939
SCN5ASUDDEN INFANT DEATH SYNDROME, Dilated cardiomyopathy 1E, Long QT syndrome 3,
Sick sinus syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A,
Brugada syndrome 1, Atrial fibrillation, familial, 10, Congenital long QT syndrome,
Brugada syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1Dilated cardiomyopathy 1E,
Progressive familial heart block, type 1A, Long QT syndrome 3, Sick sinus syndrome 1,
...see more		Uncertain significance
(Sep 9, 2021)		criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr3:38674734
GRCh38:
Chr3:38633243
SCN5AA22VDilated cardiomyopathy 1E, Long QT syndrome 3, Progressive familial heart block, type 1A,
SUDDEN INFANT DEATH SYNDROME, Brugada syndrome 1, Sick sinus syndrome 1,
Ventricular fibrillation, paroxysmal familial, type 1, Atrial fibrillation, familial, 10, Brugada syndrome,
not provided		Uncertain significance
(Feb 10, 2022)		criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr3:38647445
GRCh38:
Chr3:38605954
SCN5AVentricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E, Sick sinus syndrome 1,
Brugada syndrome 1, Atrial fibrillation, familial, 10, Long QT syndrome 3,
Progressive familial heart block, type 1A, SUDDEN INFANT DEATH SYNDROME, not provided,
Cardiac arrhythmia, Cardiovascular phenotypeBrugada syndrome,
...see more		Benign/Likely benign
(Oct 11, 2022)		criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr3:38674712-38674713
GRCh38:
Chr3:38633221-38633222
SCN5AA29VCardiac arrhythmia, Brugada syndrome, Sick sinus syndrome 1,
Atrial fibrillation, familial, 10, Progressive familial heart block, type 1A, SUDDEN INFANT DEATH SYNDROME,
Ventricular fibrillation, paroxysmal familial, type 1, Brugada syndrome 1, Long QT syndrome 3,
Dilated cardiomyopathy 1E, not providedCardiovascular phenotype,
...see more		Uncertain significance
(Oct 10, 2022)		criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr3:38592396
GRCh38:
Chr3:38550905
SCN5AE1822K, E1823K, E1790K, E1804K, E1805K, E1769KCardiac arrhythmia, Sick sinus syndrome 1, Atrial fibrillation, familial, 10,
Progressive familial heart block, type 1A, SUDDEN INFANT DEATH SYNDROME, Ventricular fibrillation, paroxysmal familial, type 1,
Brugada syndrome 1, Long QT syndrome 3, Dilated cardiomyopathy 1E,
not provided, Cardiovascular phenotypeBrugada syndrome,
...see more		Uncertain significance
(Aug 23, 2022)		criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr3:38591859
GRCh38:
Chr3:38550368
SCN5AA2001T, A2002T, A1948T, A1969T, A1983T, A1984TBrugada syndrome 1, Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1,
Dilated cardiomyopathy 1E, SUDDEN INFANT DEATH SYNDROME, Sick sinus syndrome 1,
Progressive familial heart block, type 1A, Atrial fibrillation, familial, 10, not specified,
not provided, Cardiovascular phenotypeCardiac arrhythmia,
Brugada syndrome, ...see more		Uncertain significance
(Jul 18, 2023)		criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr3:38628928
GRCh38:
Chr3:38587437
SCN5AR800HBrugada syndrome 1, Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1,
Dilated cardiomyopathy 1E, SUDDEN INFANT DEATH SYNDROME, Sick sinus syndrome 1,
Progressive familial heart block, type 1A, Atrial fibrillation, familial, 10, Arrhythmogenic right ventricular cardiomyopathy,
Cardiovascular phenotype, Brugada syndromeCardiac arrhythmia,
not specified, ...see more		Uncertain significance
(Jul 26, 2022)		criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr3:38592405
GRCh38:
Chr3:38550914
SCN5AA1819T, A1820T, A1787T, A1766T, A1801T, A1802TCardiovascular phenotype, Brugada syndrome 1, Sick sinus syndrome 1,
Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A, Long QT syndrome 3,
Dilated cardiomyopathy 1E, SUDDEN INFANT DEATH SYNDROME, Atrial fibrillation, familial, 10,
not provided		Uncertain significance
(Oct 12, 2021)		criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr3:38601712
GRCh38:
Chr3:38560221
SCN5AG1390R, G1391R, G1337RProgressive familial heart block, type 1A, Brugada syndrome 1, Long QT syndrome 3,
Sick sinus syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Atrial fibrillation, familial, 10,
Dilated cardiomyopathy 1E, SUDDEN INFANT DEATH SYNDROME, not provided,
Cardiovascular phenotype, Cardiac arrhythmiaBrugada syndrome,
Brugada syndrome 1, Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1,
Atrial fibrillation, familial, 10, Dilated cardiomyopathy 1E, Long QT syndrome 3,
...see more		Uncertain significance
(Sep 21, 2022)		criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr3:38640439
GRCh38:
Chr3:38598948
SCN5AA665TProgressive familial heart block, type 1A, Brugada syndrome 1, Long QT syndrome 3,
Sick sinus syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Atrial fibrillation, familial, 10,
Dilated cardiomyopathy 1E, SUDDEN INFANT DEATH SYNDROME, Cardiovascular phenotype,
Cardiac arrhythmia, not specifiednot provided,
Brugada syndrome, Cardiomyopathy, ...see more		Uncertain significance
(Oct 8, 2022)		criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr3:38645213
GRCh38:
Chr3:38603722
SCN5AP627LProgressive familial heart block, type 1A, Brugada syndrome 1, Long QT syndrome 3,
Sick sinus syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Atrial fibrillation, familial, 10,
Dilated cardiomyopathy 1E, SUDDEN INFANT DEATH SYNDROME, Cardiovascular phenotype,
Cardiac arrhythmia, not providednot specified,
Brugada syndrome, ...see more		Uncertain significance
(Mar 27, 2023)		criteria provided, multiple submitters, no conflicts
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