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Items: 1 to 100 of 426

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr3:38603989
GRCh38:
Chr3:38562498
SCN5AA1240T, A1293T, A1294TBrugada syndrome 1, Sick sinus syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1,
Progressive familial heart block, type 1A, Dilated cardiomyopathy 1E, Atrial fibrillation, familial, 10,
SUDDEN INFANT DEATH SYNDROME, Long QT syndrome 3		Uncertain significance
(Mar 30, 2021)		criteria provided, single submitter
2.
GRCh37:
Chr3:38595793
GRCh38:
Chr3:38554302
SCN5AV1597A, V1543A, V1578A, V1579A, V1596ALong QT syndrome 3Uncertain significance
(Dec 8, 2022)		criteria provided, single submitter
3.
GRCh37:
Chr3:38604000
GRCh38:
Chr3:38562509
SCN5AT1236I, T1289I, T1290ILong QT syndrome 3Uncertain significance
(Jun 3, 2022)		criteria provided, single submitter
4.
GRCh37:
Chr3:38651399
GRCh38:
Chr3:38609908
SCN5AM254LSick sinus syndrome 1, Progressive familial heart block, type 1A, SUDDEN INFANT DEATH SYNDROME,
Atrial fibrillation, familial, 10, Brugada syndrome 1, Long QT syndrome 3,
Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E, not provided
Uncertain significance
(Feb 11, 2022)		criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr3:38592912
GRCh38:
Chr3:38551421
SCN5AM1597L, M1618L, M1632L, M1633L, M1650L, M1651LSick sinus syndrome 1, Progressive familial heart block, type 1A, SUDDEN INFANT DEATH SYNDROME,
Atrial fibrillation, familial, 10, Brugada syndrome 1, Long QT syndrome 3,
Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E, not provided
Uncertain significance
(Oct 8, 2021)		criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr3:38616850
GRCh38:
Chr3:38575359
SCN5AV1202M, V1148M, V1201MDilated cardiomyopathy 1E, Atrial fibrillation, familial, 10, Brugada syndrome 1,
Long QT syndrome 3, SUDDEN INFANT DEATH SYNDROME, Progressive familial heart block, type 1A,
Sick sinus syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Brugada syndrome,
Cardiovascular phenotype		Uncertain significance
(Mar 9, 2023)		criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr3:38627370
GRCh38:
Chr3:38585879
SCN5AE867KDilated cardiomyopathy 1E, Long QT syndrome 3, Atrial fibrillation, familial, 10,
Sick sinus syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, SUDDEN INFANT DEATH SYNDROME,
Progressive familial heart block, type 1A, Brugada syndrome 1, Brugada syndrome
Uncertain significance
(Sep 29, 2021)		criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr3:38639202
GRCh38:
Chr3:38597711
SCN5AAtrial fibrillation, familial, 10, Long QT syndrome 3, Sick sinus syndrome 1,
Brugada syndrome 1, Progressive familial heart block, type 1A, Ventricular fibrillation, paroxysmal familial, type 1,
Dilated cardiomyopathy 1E, SUDDEN INFANT DEATH SYNDROME, Brugada syndrome
Uncertain significance
(Feb 1, 2022)		criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr3:38592372
GRCh38:
Chr3:38550881
SCN5AN1777H, N1798H, N1812H, N1813H, N1830H, N1831HSUDDEN INFANT DEATH SYNDROME, Dilated cardiomyopathy 1E, Brugada syndrome 1,
Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1, Sick sinus syndrome 1,
Atrial fibrillation, familial, 10, Progressive familial heart block, type 1A, Cardiac arrhythmia
Uncertain significance
(Oct 11, 2021)		criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr3:38603953
GRCh38:
Chr3:38562462
SCN5AR1252G, R1305G, R1306GVentricular fibrillation, paroxysmal familial, type 1, Atrial fibrillation, familial, 10, Long QT syndrome 3,
Dilated cardiomyopathy 1E, SUDDEN INFANT DEATH SYNDROME, Brugada syndrome 1,
Progressive familial heart block, type 1A, Sick sinus syndrome 1, not provided
Uncertain significance
(Jan 21, 2022)		criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr3:38671925
GRCh38:
Chr3:38630434
SCN5Anot provided, Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1,
Dilated cardiomyopathy 1E, SUDDEN INFANT DEATH SYNDROME, Brugada syndrome 1,
Atrial fibrillation, familial, 10, Sick sinus syndrome 1, Progressive familial heart block, type 1A,
Cardiovascular phenotype, Brugada syndrome ...see more		Uncertain significance
(Mar 7, 2022)		criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr3:38592774
GRCh38:
Chr3:38551283
SCN5AF1643L, F1664L, F1678L, F1679L, F1696L, F1697LCardiac arrhythmia, SUDDEN INFANT DEATH SYNDROME, Progressive familial heart block, type 1A,
Sick sinus syndrome 1, Dilated cardiomyopathy 1E, Long QT syndrome 3,
Ventricular fibrillation, paroxysmal familial, type 1, Atrial fibrillation, familial, 10, Brugada syndrome 1
Uncertain significance
(Jul 26, 2021)		criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr3:38616921
GRCh38:
Chr3:38575430
SCN5AC1124S, C1177S, C1178SSUDDEN INFANT DEATH SYNDROME, Progressive familial heart block, type 1A, Sick sinus syndrome 1,
Dilated cardiomyopathy 1E, Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1,
Atrial fibrillation, familial, 10, Brugada syndrome 1, Brugada syndrome,
Cardiac arrhythmia		Uncertain significance
(Aug 24, 2021)		criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr3:38618163
GRCh38:
Chr3:38576672
SCN5AC1113Y, C1166Y, C1167YSUDDEN INFANT DEATH SYNDROME, Progressive familial heart block, type 1A, Sick sinus syndrome 1,
Dilated cardiomyopathy 1E, Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1,
Atrial fibrillation, familial, 10, Brugada syndrome 1, Brugada syndrome,
not provided, Cardiac arrhythmia ...see more		Uncertain significance
(Aug 21, 2022)		criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr3:38591951-38591952
GRCh38:
Chr3:38550460-38550461
SCN5ASUDDEN INFANT DEATH SYNDROME, Progressive familial heart block, type 1A, Sick sinus syndrome 1,
Dilated cardiomyopathy 1E, Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1,
Atrial fibrillation, familial, 10, Brugada syndrome 1, Cardiac arrhythmia
Uncertain significance
(Oct 14, 2021)		criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr3:38645299
GRCh38:
Chr3:38603808
SCN5ASUDDEN 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, Brugada syndrome 1, Brugada syndrome
Conflicting interpretations of pathogenicity
(Mar 30, 2021)		criteria provided, conflicting interpretations
17.
GRCh37:
Chr3:38627275
GRCh38:
Chr3:38585784
SCN5ACardiovascular phenotype, Sick sinus syndrome 1, Atrial fibrillation, familial, 10,
Brugada syndrome 1, Long QT syndrome 3, Dilated cardiomyopathy 1E,
SUDDEN INFANT DEATH SYNDROME, Progressive familial heart block, type 1A, Ventricular fibrillation, paroxysmal familial, type 1,
Brugada syndrome		Likely benign
(Oct 9, 2021)		criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr3:38645416
GRCh38:
Chr3:38603925
SCN5ABrugada syndrome, Cardiovascular phenotype, Cardiac arrhythmia,
SUDDEN INFANT DEATH SYNDROME, Sick sinus syndrome 1, Dilated cardiomyopathy 1E,
Progressive familial heart block, type 1A, Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1,
Brugada syndrome 1, Atrial fibrillation, familial, 10 ...see more		Likely benign
(Oct 7, 2022)		criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr3:38651373
GRCh38:
Chr3:38609882
SCN5ASick sinus syndrome 1, Atrial fibrillation, familial, 10, Brugada syndrome 1,
Long QT syndrome 3, Dilated cardiomyopathy 1E, SUDDEN INFANT DEATH SYNDROME,
Progressive familial heart block, type 1A, Ventricular fibrillation, paroxysmal familial, type 1, Brugada syndrome
Likely benign
(Apr 8, 2022)		criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr3:38662437
GRCh38:
Chr3:38620946
SCN5AF170IBrugada syndrome, Brugada syndrome 1, SUDDEN INFANT DEATH 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,
not provided		Uncertain significance
(Apr 15, 2022)		criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr3:38591912
GRCh38:
Chr3:38550421
SCN5AT1930I, T1951I, T1965I, T1966I, T1983I, T1984ICardiac arrhythmia, Brugada syndromeUncertain significance
(Jun 9, 2022)		criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr3:38629052
GRCh38:
Chr3:38587561
SCN5AI759VCardiovascular phenotype, SUDDEN INFANT DEATH SYNDROME, Progressive familial heart block, type 1A,
Brugada syndrome 1, Dilated cardiomyopathy 1E, Long QT syndrome 3,
Ventricular fibrillation, paroxysmal familial, type 1, Atrial fibrillation, familial, 10, Sick sinus syndrome 1,
Cardiac arrhythmia, Brugada syndrome ...see more		Uncertain significance
(Oct 16, 2021)		criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr3:38645480
GRCh38:
Chr3:38603989
SCN5AG538VSUDDEN INFANT DEATH SYNDROME, Progressive familial heart block, type 1A, Brugada syndrome 1,
Dilated cardiomyopathy 1E, Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1,
Atrial fibrillation, familial, 10, Sick sinus syndrome 1, Brugada syndrome
Uncertain significance
(Apr 18, 2022)		criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr3:38592324
GRCh38:
Chr3:38550833
SCN5AR1793G, R1814G, R1828G, R1829G, R1846G, R1847GDilated cardiomyopathy 1E, SUDDEN INFANT DEATH SYNDROME, Sick sinus syndrome 1,
Atrial fibrillation, familial, 10, Brugada syndrome 1, Long QT syndrome 3,
Progressive familial heart block, type 1A, Ventricular fibrillation, paroxysmal familial, type 1, Brugada syndrome
Uncertain significance
(Aug 22, 2022)		criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr3:38592236
GRCh38:
Chr3:38550745
SCN5AE1822V, E1843V, E1857V, E1858V, E1875V, E1876VDilated cardiomyopathy 1E, SUDDEN INFANT DEATH SYNDROME, Sick sinus syndrome 1,
Atrial fibrillation, familial, 10, Brugada syndrome 1, Long QT syndrome 3,
Progressive familial heart block, type 1A, Ventricular fibrillation, paroxysmal familial, type 1, Brugada syndrome
Uncertain significance
(Dec 3, 2021)		criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr3:38618223
GRCh38:
Chr3:38576732
SCN5AT1093N, T1146N, T1147NLong QT syndrome 3, Brugada syndrome 1, Cardiac arrhythmia,
Brugada syndrome		Uncertain significance
(Jan 2, 2022)		criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr3:38628992
GRCh38:
Chr3:38587501
SCN5AQ779fsLong QT syndrome 3, Brugada syndrome 1Likely pathogenic
(Oct 8, 2018)		criteria provided, single submitter
28.
GRCh37:
Chr3:38627487
GRCh38:
Chr3:38585996
SCN5AL828VLong QT syndrome 3Pathogenic
(Jul 7, 2020)		no assertion criteria provided
29.
GRCh37:
Chr3:38592049
GRCh38:
Chr3:38550558
SCN5AE1884D, E1905D, E1919D, E1920D, E1937D, E1938DLeft ventricular noncompaction 1, Long QT syndrome 3, Progressive familial heart block, type 1A,
Brugada syndrome 1, SUDDEN INFANT DEATH SYNDROME, Sick sinus syndrome 1,
Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E, Atrial fibrillation, familial, 10
Uncertain significance
(Aug 11, 2021)		criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr3:38639404
GRCh38:
Chr3:38597913
SCN5AR693LCardiac arrhythmia, Brugada syndrome, Brugada syndrome 1,
Long QT syndrome 3		Uncertain significance
(Mar 28, 2022)		criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr3:38622582
GRCh38:
Chr3:38581091
LOC110121269, SCN5AR1023PLong QT syndrome 3, Sick sinus syndrome 1, Atrial fibrillation, familial, 10,
Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E, SUDDEN INFANT DEATH SYNDROME,
Progressive familial heart block, type 1A, Brugada syndrome 1, Cardiovascular phenotype,
Brugada syndrome		Uncertain significance
(May 11, 2022)		criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr3:38595967
GRCh38:
Chr3:38554476
SCN5AC1485Y, C1520Y, C1521Y, C1538Y, C1539YCardiovascular phenotype, Ventricular fibrillation, paroxysmal familial, type 1, Brugada syndrome 1,
Sick sinus syndrome 1, SUDDEN INFANT DEATH SYNDROME, Long QT syndrome 3,
Dilated cardiomyopathy 1E, Atrial fibrillation, familial, 10, Progressive familial heart block, type 1A,
Brugada syndrome		Uncertain significance
(Sep 1, 2021)		criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr3:38663915
GRCh38:
Chr3:38622424
SCN5AP153LBrugada syndrome, Ventricular fibrillation, paroxysmal familial, type 1, Brugada syndrome 1,
Sick sinus syndrome 1, SUDDEN INFANT DEATH SYNDROME, Long QT syndrome 3,
Dilated cardiomyopathy 1E, Atrial fibrillation, familial, 10, Progressive familial heart block, type 1A
Uncertain significance
(Jul 25, 2022)		criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr3:38591853
GRCh38:
Chr3:38550362
SCN5AF1971I, F2004I, F1950I, F1985I, F2003I, F1986ICardiac arrhythmia, Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E,
Atrial fibrillation, familial, 10, Brugada syndrome 1, Sick sinus syndrome 1,
Progressive familial heart block, type 1A, Long QT syndrome 3, SUDDEN INFANT DEATH SYNDROME,
Cardiovascular phenotype, Brugada syndrome ...see more		Uncertain significance
(Jul 13, 2022)		criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr3:38645234
GRCh38:
Chr3:38603743
SCN5AR620HCardiac arrhythmia, Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E,
Atrial fibrillation, familial, 10, Brugada syndrome 1, Sick sinus syndrome 1,
Progressive familial heart block, type 1A, Long QT syndrome 3, SUDDEN INFANT DEATH SYNDROME,
Brugada syndrome		Uncertain significance
(Oct 13, 2022)		criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr3:38618272
GRCh38:
Chr3:38576781
SCN5AT1077S, T1131S, T1130SCardiac arrhythmia, Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E,
Atrial fibrillation, familial, 10, Brugada syndrome 1, Sick sinus syndrome 1,
Progressive familial heart block, type 1A, Long QT syndrome 3, SUDDEN INFANT DEATH SYNDROME
Uncertain significance
(Sep 29, 2021)		criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr3:38646350
GRCh38:
Chr3:38604859
SCN5AM463RCardiac arrhythmia, Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E,
Atrial fibrillation, familial, 10, Brugada syndrome 1, Sick sinus syndrome 1,
Progressive familial heart block, type 1A, Long QT syndrome 3, SUDDEN INFANT DEATH SYNDROME,
Brugada syndrome		Uncertain significance
(Aug 26, 2021)		criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr3:38620907
GRCh38:
Chr3:38579416
LOC110121269, SCN5AS1102F, S1103FVentricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E, Atrial fibrillation, familial, 10,
Brugada syndrome 1, Sick sinus syndrome 1, Progressive familial heart block, type 1A,
Long QT syndrome 3, SUDDEN INFANT DEATH SYNDROME, Cardiac arrhythmia,
not provided, Brugada syndrome ...see more		Uncertain significance
(Jul 20, 2022)		criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr3:38616874
GRCh38:
Chr3:38575383
SCN5AL1140M, L1193M, L1194MCardiac arrhythmia, Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E,
Atrial fibrillation, familial, 10, Brugada syndrome 1, Sick sinus syndrome 1,
Progressive familial heart block, type 1A, Long QT syndrome 3, SUDDEN INFANT DEATH SYNDROME,
not provided		Uncertain significance
(Oct 21, 2021)		criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr3:38674672
GRCh38:
Chr3:38633181
SCN5AR43*Cardiac arrhythmia, Long QT syndrome 3, Brugada syndrome 1
Pathogenic
(Jul 2, 2021)		criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr3:38616928
GRCh38:
Chr3:38575437
SCN5AC1175R, C1176R, C1122RLong QT syndrome 3, Progressive familial heart block, type 1A, Atrial fibrillation, familial, 10,
Brugada syndrome 1, SUDDEN INFANT DEATH SYNDROME, Ventricular fibrillation, paroxysmal familial, type 1,
Dilated cardiomyopathy 1E, Sick sinus syndrome 1, Cardiac arrhythmia
Uncertain significance
(Oct 8, 2021)		criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr3:38616887
GRCh38:
Chr3:38575396
SCN5ACardiac arrhythmia, Long QT syndrome 3, Progressive familial heart block, type 1A,
Atrial fibrillation, familial, 10, Brugada syndrome 1, SUDDEN INFANT DEATH SYNDROME,
Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E, Sick sinus syndrome 1
Conflicting interpretations of pathogenicity
(Mar 30, 2021)		criteria provided, conflicting interpretations
43.
GRCh37:
Chr3:38640486
GRCh38:
Chr3:38598995
SCN5AC649YBrugada syndrome, Long QT syndrome 3, Progressive familial heart block, type 1A,
Atrial fibrillation, familial, 10, Brugada syndrome 1, SUDDEN INFANT DEATH SYNDROME,
Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E, Sick sinus syndrome 1,
Cardiovascular phenotype, Cardiac arrhythmia ...see more		Uncertain significance
(Nov 2, 2021)		criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr3:38592005
GRCh38:
Chr3:38550514
SCN5AS1899N, S1952N, S1920N, S1953N, S1935N, S1934NCardiac arrhythmia, Long QT syndrome 3, Progressive familial heart block, type 1A,
Atrial fibrillation, familial, 10, Brugada syndrome 1, SUDDEN INFANT DEATH SYNDROME,
Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E, Sick sinus syndrome 1,
Cardiovascular phenotype		Conflicting interpretations of pathogenicity
(Oct 6, 2021)		criteria provided, conflicting interpretations
45.
GRCh37:
Chr3:38592406-38592408
GRCh38:
Chr3:38550915-38550917
SCN5AD1801N, D1819N, D1786N, D1818N, D1765N, D1800NCardiac arrhythmia, Long QT syndrome 3, Progressive familial heart block, type 1A,
Atrial fibrillation, familial, 10, Brugada syndrome 1, SUDDEN INFANT DEATH SYNDROME,
Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E, Sick sinus syndrome 1,
Cardiovascular phenotype		Conflicting interpretations of pathogenicity
(Jan 11, 2023)		criteria provided, conflicting interpretations
46.
GRCh37:
Chr3:38640477
GRCh38:
Chr3:38598986
SCN5AG652DCardiac arrhythmia, Long QT syndrome 3, Progressive familial heart block, type 1A,
Atrial fibrillation, familial, 10, Brugada syndrome 1, SUDDEN INFANT DEATH SYNDROME,
Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E, Sick sinus syndrome 1,
not provided, Brugada syndrome ...see more		Uncertain significance
(Sep 12, 2022)		criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr3:38674570
GRCh38:
Chr3:38633079
SCN5AG77RLong QT syndrome 3, Progressive familial heart block, type 1A, Atrial fibrillation, familial, 10,
Brugada syndrome 1, SUDDEN INFANT DEATH SYNDROME, Ventricular fibrillation, paroxysmal familial, type 1,
Dilated cardiomyopathy 1E, Sick sinus syndrome 1, Brugada syndrome,
Cardiac arrhythmia		Uncertain significance
(Apr 12, 2022)		criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr3:38590754
GRCh38:
Chr3:38549263
SCN5AVentricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A, Long QT syndrome 3,
Brugada syndrome 1, Dilated cardiomyopathy 1E, Sick sinus syndrome 1
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
49.
GRCh37:
Chr3:38592642
GRCh38:
Chr3:38551151
SCN5AD1687N, D1722N, D1723N, D1741N, D1708N, D1740NVentricular fibrillation, paroxysmal familial, type 1, Sick sinus syndrome 1, Progressive familial heart block, type 1A,
Long QT syndrome 3, Brugada syndrome 1, Cardiovascular phenotype,
Dilated cardiomyopathy 1E		Conflicting interpretations of pathogenicity
(Apr 20, 2022)		criteria provided, conflicting interpretations
50.
GRCh37:
Chr3:38590069
GRCh38:
Chr3:38548578
SCN5AVentricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A, Long QT syndrome 3,
Brugada syndrome 1, Dilated cardiomyopathy 1E, Sick sinus syndrome 1
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
51.
GRCh37:
Chr3:38591153
GRCh38:
Chr3:38549662
SCN5ASick sinus syndrome 1, Progressive familial heart block, type 1A, Ventricular fibrillation, paroxysmal familial, type 1,
Dilated cardiomyopathy 1E, Long QT syndrome 3, Brugada syndrome 1
Uncertain significance
(Sep 23, 2019)		criteria provided, single submitter
52.
GRCh37:
Chr3:38590752
GRCh38:
Chr3:38549261
SCN5ADilated cardiomyopathy 1E, Progressive familial heart block, type 1A, Sick sinus syndrome 1,
Brugada syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Long QT syndrome 3
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
53.
GRCh37:
Chr3:38590398
GRCh38:
Chr3:38548907
SCN5ADilated cardiomyopathy 1E, Progressive familial heart block, type 1A, Sick sinus syndrome 1,
Brugada syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Long QT syndrome 3
Conflicting interpretations of pathogenicity
(Mar 14, 2018)		criteria provided, conflicting interpretations
54.
GRCh37:
Chr3:38592610
GRCh38:
Chr3:38551119
SCN5AProgressive familial heart block, type 1A, Sick sinus syndrome 1, Brugada syndrome 1,
Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E, Long QT syndrome 3
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
55.
GRCh37:
Chr3:38590010
GRCh38:
Chr3:38548519
SCN5AProgressive 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
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
56.
GRCh37:
Chr3:38589805
GRCh38:
Chr3:38548314
SCN5AProgressive familial heart block, type 1A, Sick sinus syndrome 1, Brugada syndrome 1,
Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E, Long QT syndrome 3
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
57.
GRCh37:
Chr3:38591337
GRCh38:
Chr3:38549846
SCN5AProgressive familial heart block, type 1A, Sick sinus syndrome 1, Brugada syndrome 1,
Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E, Long QT syndrome 3
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
58.
GRCh37:
Chr3:38622705
GRCh38:
Chr3:38581214
LOC110121269, SCN5AC982YDilated cardiomyopathy 1E, Progressive familial heart block, type 1A, Sick sinus syndrome 1,
Brugada syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Long QT syndrome 3
Uncertain significance
(Apr 27, 2017)		criteria provided, single submitter
59.
GRCh37:
Chr3:38591150
GRCh38:
Chr3:38549659
SCN5ADilated cardiomyopathy 1E, Progressive familial heart block, type 1A, Sick sinus syndrome 1,
Brugada syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Long QT syndrome 3
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
60.
GRCh37:
Chr3:38618157
GRCh38:
Chr3:38576666
SCN5AT1115S, T1169S, T1168SDilated cardiomyopathy 1E, Progressive familial heart block, type 1A, Sick sinus syndrome 1,
Brugada syndrome 1, Brugada syndrome, Ventricular fibrillation, paroxysmal familial, type 1,
Long QT syndrome 3		Uncertain significance
(Mar 18, 2022)		criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr3:38601887
GRCh38:
Chr3:38560396
SCN5AVentricular fibrillation, paroxysmal familial, type 1, Cardiovascular phenotype, Cardiac arrhythmia,
Dilated cardiomyopathy 1E, Sick sinus syndrome 1, Progressive familial heart block, type 1A,
not provided, Brugada syndrome, Long QT syndrome 3,
Brugada syndrome 1		Conflicting interpretations of pathogenicity
(Oct 26, 2022)		criteria provided, conflicting interpretations
62.
GRCh37:
Chr3:38616927
GRCh38:
Chr3:38575436
SCN5AC1122Y, C1175Y, C1176YProgressive familial heart block, type 1A, Dilated cardiomyopathy 1E, Brugada syndrome 1,
Sick sinus syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Long QT syndrome 3
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
63.
GRCh37:
Chr3:38655281
GRCh38:
Chr3:38613790
SCN5AR219PSick sinus syndrome 1, Progressive familial heart block, type 1A, Ventricular fibrillation, paroxysmal familial, type 1,
Dilated cardiomyopathy 1E, Long QT syndrome 3, Brugada syndrome 1
Uncertain significance
(Mar 30, 2018)		criteria provided, single submitter
64.
GRCh37:
Chr3:38590646
GRCh38:
Chr3:38549155
SCN5ASick sinus syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Long QT syndrome 3,
Dilated cardiomyopathy 1E, Brugada syndrome 1, Progressive familial heart block, type 1A
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
65.
GRCh37:
Chr3:38590611
GRCh38:
Chr3:38549120
SCN5ASick sinus syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Long QT syndrome 3,
Dilated cardiomyopathy 1E, Brugada syndrome 1, Progressive familial heart block, type 1A
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
66.
GRCh37:
Chr3:38589992
GRCh38:
Chr3:38548501
SCN5AVentricular fibrillation, paroxysmal familial, type 1, Brugada syndrome 1, Dilated cardiomyopathy 1E,
Progressive familial heart block, type 1A, Sick sinus syndrome 1, Long QT syndrome 3
Conflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
67.
GRCh37:
Chr3:38591681
GRCh38:
Chr3:38550190
SCN5ASick sinus syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Brugada syndrome 1,
Dilated cardiomyopathy 1E, Progressive familial heart block, type 1A, Long QT syndrome 3
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
68.
GRCh37:
Chr3:38622761
GRCh38:
Chr3:38581270
LOC110121269, SCN5ASick sinus syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Brugada syndrome 1,
Dilated cardiomyopathy 1E, Progressive familial heart block, type 1A, Long QT syndrome 3
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
69.
GRCh37:
Chr3:38591225
GRCh38:
Chr3:38549734
SCN5ASick sinus syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Brugada syndrome 1,
Dilated cardiomyopathy 1E, Progressive familial heart block, type 1A, Long QT syndrome 3
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
70.
GRCh37:
Chr3:38591198
GRCh38:
Chr3:38549707
SCN5ASick sinus syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, not provided,
Brugada syndrome 1, Dilated cardiomyopathy 1E, Progressive familial heart block, type 1A,
Long QT syndrome 3		Benign/Likely benign
(May 22, 2021)		criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr3:38591124
GRCh38:
Chr3:38549633
SCN5ASick sinus syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Brugada syndrome 1,
Dilated cardiomyopathy 1E, Long QT syndrome 3, Progressive familial heart block, type 1A
Uncertain significance
(Mar 16, 2018)		criteria provided, single submitter
72.
GRCh37:
Chr3:38620953
GRCh38:
Chr3:38579462
LOC110121269, SCN5AA1088S, A1087SSick sinus syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Brugada syndrome 1,
Dilated cardiomyopathy 1E, Long QT syndrome 3, Progressive familial heart block, type 1A
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
73.
GRCh37:
Chr3:38616906
GRCh38:
Chr3:38575415
SCN5AT1182I, T1183I, T1129ICardiac arrhythmia, Dilated cardiomyopathy 1E, Brugada syndrome 1,
Sick sinus syndrome 1, Progressive familial heart block, type 1A, Ventricular fibrillation, paroxysmal familial, type 1,
Long QT syndrome 3		Uncertain significance
(Dec 11, 2019)		criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr3:38691049
GRCh38:
Chr3:38649558
SCN5AVentricular 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
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
75.
GRCh37:
Chr3:38601807
GRCh38:
Chr3:38560316
SCN5AK1305T, K1358T, K1359TSick sinus syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Brugada syndrome 1,
Dilated cardiomyopathy 1E, Long QT syndrome 3, Progressive familial heart block, type 1A
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
76.
GRCh37:
Chr3:38598718
GRCh38:
Chr3:38557227
SCN5ASick sinus syndrome 1, Brugada syndrome 1, Dilated cardiomyopathy 1E,
Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A, Long QT syndrome 3
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
77.
GRCh37:
Chr3:38590661
GRCh38:
Chr3:38549170
SCN5ASick sinus syndrome 1, Brugada syndrome 1, Dilated cardiomyopathy 1E,
Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A, Long QT syndrome 3
Uncertain significance
(Apr 27, 2017)		criteria provided, single submitter
78.
GRCh37:
Chr3:38590528
GRCh38:
Chr3:38549037
SCN5ASick sinus syndrome 1, Brugada syndrome 1, Long QT syndrome 3,
Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E, Progressive familial heart block, type 1A
Benign/Likely benign
(Jan 12, 2018)		criteria provided, single submitter
79.
GRCh37:
Chr3:38590257
GRCh38:
Chr3:38548766
SCN5ASick sinus syndrome 1, Brugada syndrome 1, Long QT syndrome 3,
Dilated cardiomyopathy 1E, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
80.
GRCh37:
Chr3:38646370
GRCh38:
Chr3:38604879
SCN5ASick sinus syndrome 1, Brugada syndrome 1, Long QT syndrome 3,
Dilated cardiomyopathy 1E, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A
Uncertain significance
(Apr 27, 2017)		criteria provided, single submitter
81.
GRCh37:
Chr3:38589969
GRCh38:
Chr3:38548478
SCN5ASick sinus syndrome 1, Brugada syndrome 1, Long QT syndrome 3,
Dilated cardiomyopathy 1E, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
82.
GRCh37:
Chr3:38589928
GRCh38:
Chr3:38548437
SCN5ASick sinus syndrome 1, Brugada syndrome 1, Long QT syndrome 3,
Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A, Dilated cardiomyopathy 1E
Benign/Likely benign
(Jan 12, 2018)		criteria provided, single submitter
83.
GRCh37:
Chr3:38592375
GRCh38:
Chr3:38550884
SCN5AP1776T, P1812T, P1829T, P1797T, P1830T, P1811TSick sinus syndrome 1, Brugada syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1,
Progressive familial heart block, type 1A, Dilated cardiomyopathy 1E, Long QT syndrome 3
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
84.
GRCh37:
Chr3:38592339
GRCh38:
Chr3:38550848
SCN5AM1788L, M1809L, M1823L, M1841L, M1824L, M1842LBrugada syndrome 1, Sick sinus syndrome 1, Long QT syndrome 3,
Brugada syndrome, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A,
Dilated cardiomyopathy 1E		Uncertain significance
(Aug 31, 2021)		criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr3:38607934
GRCh38:
Chr3:38566443
SCN5AN1215S, N1268S, N1269SCardiovascular phenotype, Cardiac arrhythmia, Sick sinus syndrome 1,
Progressive familial heart block, type 1A, Dilated cardiomyopathy 1E, Long QT syndrome 3,
Brugada syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, not provided,
Brugada syndrome		Uncertain significance
(May 18, 2022)		criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr3:38629033
GRCh38:
Chr3:38587542
SCN5AT765ISick sinus syndrome 1, Progressive familial heart block, type 1A, Ventricular fibrillation, paroxysmal familial, type 1,
Dilated cardiomyopathy 1E, SUDDEN INFANT DEATH SYNDROME, Brugada syndrome 1,
Long QT syndrome 3, Atrial fibrillation, familial, 10, Cardiovascular phenotype,
Brugada syndrome		Uncertain significance
(Feb 16, 2022)		criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr3:38592495
GRCh38:
Chr3:38551004
SCN5AD1736N, D1757N, D1790N, D1789N, D1771N, D1772NLong QT syndrome 3, Sick sinus syndrome 1, Atrial fibrillation, familial, 10,
Progressive familial heart block, type 1A, Ventricular fibrillation, paroxysmal familial, type 1, SUDDEN INFANT DEATH SYNDROME,
Brugada syndrome 1, Dilated cardiomyopathy 1E, Brugada syndrome
Uncertain significance
(Dec 24, 2021)		criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr3:38646281
GRCh38:
Chr3:38604790
SCN5AT486SLong QT syndrome 3, Sick sinus syndrome 1, SUDDEN INFANT DEATH SYNDROME,
Progressive familial heart block, type 1A, Ventricular fibrillation, paroxysmal familial, type 1, Atrial fibrillation, familial, 10,
Brugada syndrome 1, Dilated cardiomyopathy 1E, Brugada syndrome
Uncertain significance
(Mar 12, 2022)		criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr3:38671878
GRCh38:
Chr3:38630387
SCN5AS106GSick sinus syndrome 1, SUDDEN INFANT DEATH SYNDROME, Brugada syndrome 1,
Long QT syndrome 3, Atrial fibrillation, familial, 10, Progressive familial heart block, type 1A,
Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E, Cardiac arrhythmia,
Brugada syndrome		Uncertain significance
(Mar 18, 2022)		criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr3:38627348
GRCh38:
Chr3:38585857
SCN5AG874DSUDDEN INFANT DEATH SYNDROME, Atrial fibrillation, familial, 10, Sick sinus syndrome 1,
Progressive familial heart block, type 1A, Ventricular fibrillation, paroxysmal familial, type 1, Brugada syndrome 1,
Long QT syndrome 3, Dilated cardiomyopathy 1E, Brugada syndrome
Uncertain significance
(Aug 28, 2021)		criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr3:38604078
GRCh38:
Chr3:38562587
SCN5ALong QT syndrome 3Uncertain significance
(Jun 25, 2019)		no assertion criteria provided
92.
GRCh37:
Chr3:38674553
GRCh38:
Chr3:38633062
SCN5AD82EAtrial fibrillation, familial, 10, Brugada syndrome 1, Progressive familial heart block, type 1A,
Sick sinus syndrome 1, Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1,
Dilated cardiomyopathy 1E, SUDDEN INFANT DEATH SYNDROME, not provided,
Brugada syndrome, Cardiovascular phenotypeCardiac arrhythmia,
...see more		Uncertain significance
(Mar 1, 2022)		criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr3:38646221
GRCh38:
Chr3:38604730
SCN5AM506KAtrial fibrillation, familial, 10, Brugada syndrome 1, Progressive familial heart block, type 1A,
Sick sinus syndrome 1, Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1,
Dilated cardiomyopathy 1E, SUDDEN INFANT DEATH SYNDROME, not provided,
Brugada syndrome, Cardiac arrhythmia ...see more		Uncertain significance
(Oct 18, 2021)		criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr3:38674631
GRCh38:
Chr3:38633140
SCN5ABrugada syndrome, Atrial fibrillation, familial, 10, Progressive familial heart block, type 1A,
Ventricular fibrillation, paroxysmal familial, type 1, Brugada syndrome 1, Dilated cardiomyopathy 1E,
SUDDEN INFANT DEATH SYNDROME, Long QT syndrome 3, Sick sinus syndrome 1
Likely benign
(Jul 26, 2021)		criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr3:38640440
GRCh38:
Chr3:38598949
SCN5ACardiovascular phenotype, Cardiac arrhythmia, Dilated cardiomyopathy 1E,
Atrial fibrillation, familial, 10, Brugada syndrome 1, Long QT syndrome 3,
Sick sinus syndrome 1, SUDDEN INFANT DEATH SYNDROME, Progressive familial heart block, type 1A,
Ventricular fibrillation, paroxysmal familial, type 1, Brugada syndrome ...see more		Likely benign
(Sep 1, 2021)		criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr3:38592013
GRCh38:
Chr3:38550522
SCN5ACardiovascular phenotype, Cardiac arrhythmia, Ventricular fibrillation, paroxysmal familial, type 1,
Sick sinus syndrome 1, Progressive familial heart block, type 1A, Dilated cardiomyopathy 1E,
Long QT syndrome 3, Brugada syndrome 1, Brugada syndrome
Conflicting interpretations of pathogenicity
(Oct 28, 2022)		criteria provided, conflicting interpretations
97.
GRCh37:
Chr3:38592506
GRCh38:
Chr3:38551015
SCN5AL1785P, L1786P, L1767P, L1768P, L1732P, L1753PLong QT syndrome 3Likely pathogenic
(Feb 21, 2019)		criteria provided, single submitter
98.
GRCh37:
Chr3:38595982
GRCh38:
Chr3:38554491
SCN5AI1480S, I1534S, I1515S, I1533S, I1516SLong QT syndrome 3Uncertain significance
(Apr 9, 2019)		criteria provided, single submitter
99.
GRCh37:
Chr3:38603922
GRCh38:
Chr3:38562431
SCN5AR1262Q, R1315Q, R1316QCardiac arrhythmia, Brugada syndrome, Brugada syndrome 1,
Progressive familial heart block, type 1A, Long QT syndrome 3, Atrial fibrillation, familial, 10,
Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E, SUDDEN INFANT DEATH SYNDROME,
Sick sinus syndrome 1		Uncertain significance
(Jun 13, 2022)		criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr3:38618221
GRCh38:
Chr3:38576730
SCN5AA1094T, A1147T, A1148TBrugada syndrome, Cardiac arrhythmia, Brugada syndrome 1,
Progressive familial heart block, type 1A, Long QT syndrome 3, Atrial fibrillation, familial, 10,
Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E, SUDDEN INFANT DEATH SYNDROME,
Sick sinus syndrome 1		Uncertain significance
(Oct 18, 2022)		criteria provided, multiple submitters, no conflicts
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