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Items: 1 to 100 of 383

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:
Chr3:38592372
GRCh38:
Chr3:38550881
SCN5AN1777H, N1798H, N1812H, N1813H, N1830H, N1831HCardiac arrhythmia, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A,
Brugada syndrome 1, Long QT syndrome 3, Dilated cardiomyopathy 1E,
Sick sinus syndrome 1, SUDDEN INFANT DEATH SYNDROME, Atrial fibrillation, familial, 10
Uncertain significance
(Oct 11, 2021)		criteria provided, multiple submitters, no conflicts
8.
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
9.
GRCh37:
Chr3:38671925
GRCh38:
Chr3:38630434
SCN5ACardiovascular phenotype, not provided, Brugada syndrome,
Brugada syndrome 1, Long QT syndrome 3, Progressive familial heart block, type 1A,
SUDDEN INFANT DEATH SYNDROME, Atrial fibrillation, familial, 10, Sick sinus syndrome 1,
Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E ...see more		Uncertain significance
(Mar 7, 2022)		criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr3:38592774
GRCh38:
Chr3:38551283
SCN5AF1643L, F1664L, F1678L, F1679L, F1696L, F1697LCardiac arrhythmia, SUDDEN INFANT DEATH SYNDROME, Atrial fibrillation, familial, 10,
Sick sinus syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E,
Long QT syndrome 3, Progressive familial heart block, type 1A, Brugada syndrome 1
Uncertain significance
(Jul 26, 2021)		criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr3:38616921
GRCh38:
Chr3:38575430
SCN5AC1124S, C1177S, C1178SCardiac arrhythmia, SUDDEN INFANT DEATH SYNDROME, Atrial fibrillation, familial, 10,
Sick sinus syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E,
Long QT syndrome 3, Progressive familial heart block, type 1A, Brugada syndrome 1,
Brugada syndrome		Uncertain significance
(Aug 24, 2021)		criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr3:38618163
GRCh38:
Chr3:38576672
SCN5AC1113Y, C1166Y, C1167YSUDDEN INFANT DEATH SYNDROME, Atrial fibrillation, familial, 10, Sick sinus syndrome 1,
Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E, Long QT syndrome 3,
Progressive familial heart block, type 1A, Brugada syndrome 1, Cardiac arrhythmia,
not provided, Brugada syndrome ...see more		Uncertain significance
(Aug 21, 2022)		criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr3:38591951-38591952
GRCh38:
Chr3:38550460-38550461
SCN5ASUDDEN INFANT DEATH SYNDROME, Atrial fibrillation, familial, 10, Sick sinus syndrome 1,
Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E, Long QT syndrome 3,
Progressive familial heart block, type 1A, Brugada syndrome 1, Cardiac arrhythmia
Uncertain significance
(Oct 14, 2021)		criteria provided, multiple submitters, no conflicts
14.
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
15.
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
16.
GRCh37:
Chr3:38645416
GRCh38:
Chr3:38603925
SCN5ACardiovascular phenotype, Cardiac arrhythmia, Atrial fibrillation, familial, 10,
Progressive familial heart block, type 1A, SUDDEN INFANT DEATH SYNDROME, Ventricular fibrillation, paroxysmal familial, type 1,
Sick sinus syndrome 1, Dilated cardiomyopathy 1E, Long QT syndrome 3,
Brugada syndrome 1, Brugada syndrome ...see more		Likely benign
(Oct 7, 2022)		criteria provided, multiple submitters, no conflicts
17.
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
18.
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
19.
GRCh37:
Chr3:38629052
GRCh38:
Chr3:38587561
SCN5AI759VCardiovascular phenotype, Cardiac arrhythmia, Brugada syndrome,
Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E,
Atrial fibrillation, familial, 10, Sick sinus syndrome 1, Progressive familial heart block, type 1A,
Brugada syndrome 1, SUDDEN INFANT DEATH SYNDROME ...see more		Uncertain significance
(Oct 16, 2021)		criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr3:38645480
GRCh38:
Chr3:38603989
SCN5AG538VBrugada syndrome, Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1,
Dilated cardiomyopathy 1E, Atrial fibrillation, familial, 10, Sick sinus syndrome 1,
Progressive familial heart block, type 1A, Brugada syndrome 1, SUDDEN INFANT DEATH SYNDROME
Uncertain significance
(Apr 18, 2022)		criteria provided, multiple submitters, no conflicts
21.
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
22.
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
23.
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
24.
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
25.
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
26.
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
27.
GRCh37:
Chr3:38601820-38601821
GRCh38:
Chr3:38560329-38560330
SCN5ASick sinus syndrome 1Uncertain significance
(Jan 1, 2016)		criteria provided, single submitter
28.
GRCh37:
Chr3:38591853
GRCh38:
Chr3:38550362
SCN5AF1971I, F2004I, F1950I, F1985I, F2003I, F1986ICardiovascular phenotype, Cardiac arrhythmia, SUDDEN INFANT DEATH SYNDROME,
Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A,
Atrial fibrillation, familial, 10, Sick sinus syndrome 1, Dilated cardiomyopathy 1E,
Brugada syndrome 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, Long QT syndrome 3,
Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A, Atrial fibrillation, familial, 10,
Sick sinus syndrome 1, Dilated cardiomyopathy 1E, Brugada syndrome 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, not provided, SUDDEN INFANT DEATH SYNDROME,
Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A,
Atrial fibrillation, familial, 10, Sick sinus syndrome 1, Dilated cardiomyopathy 1E,
Brugada syndrome 1		Uncertain significance
(Oct 16, 2023)		criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr3:38646350
GRCh38:
Chr3:38604859
SCN5AM463RSUDDEN INFANT DEATH SYNDROME, Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1,
Progressive familial heart block, type 1A, Atrial fibrillation, familial, 10, Sick sinus syndrome 1,
Dilated cardiomyopathy 1E, Brugada syndrome 1, Cardiac arrhythmia,
Brugada syndrome		Uncertain significance
(Aug 26, 2021)		criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr3:38620907
GRCh38:
Chr3:38579416
LOC110121269, SCN5AS1102F, S1103Fnot provided, Cardiac arrhythmia, SUDDEN INFANT DEATH SYNDROME,
Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A,
Atrial fibrillation, familial, 10, Sick sinus syndrome 1, Dilated cardiomyopathy 1E,
Brugada syndrome 1, Brugada syndrome ...see more		Uncertain significance
(Jul 20, 2022)		criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr3:38616874
GRCh38:
Chr3:38575383
SCN5AL1140M, L1193M, L1194Mnot provided, SUDDEN INFANT DEATH SYNDROME, Long QT syndrome 3,
Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A, Atrial fibrillation, familial, 10,
Sick sinus syndrome 1, Dilated cardiomyopathy 1E, Brugada syndrome 1,
Cardiac arrhythmia		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, Long QT syndrome 3,
Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A, Atrial fibrillation, familial, 10,
Sick sinus syndrome 1, Dilated cardiomyopathy 1E, Brugada syndrome 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, Long QT syndrome 3,
Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A, Atrial fibrillation, familial, 10,
Sick sinus syndrome 1, Dilated cardiomyopathy 1E, Brugada syndrome 1
Conflicting interpretations of pathogenicity
(Mar 30, 2021)		criteria provided, conflicting interpretations
36.
GRCh37:
Chr3:38640486
GRCh38:
Chr3:38598995
SCN5AC649YBrugada syndrome, SUDDEN INFANT DEATH SYNDROME, Long QT syndrome 3,
Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A, Atrial fibrillation, familial, 10,
Sick sinus syndrome 1, Dilated cardiomyopathy 1E, Brugada syndrome 1,
Cardiovascular phenotype, Cardiac arrhythmia ...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, S1934NCardiac arrhythmia, SUDDEN INFANT DEATH SYNDROME, Long QT syndrome 3,
Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A, Atrial fibrillation, familial, 10,
Sick sinus syndrome 1, Dilated cardiomyopathy 1E, Brugada syndrome 1,
Cardiovascular phenotype		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, D1800NCardiac arrhythmia, SUDDEN INFANT DEATH SYNDROME, Long QT syndrome 3,
Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A, Atrial fibrillation, familial, 10,
Sick sinus syndrome 1, Dilated cardiomyopathy 1E, Brugada syndrome 1,
Cardiovascular phenotype		Conflicting interpretations of pathogenicity
(Jan 11, 2023)		criteria provided, conflicting interpretations
39.
GRCh37:
Chr3:38640477
GRCh38:
Chr3:38598986
SCN5AG652Dnot provided, Cardiac arrhythmia, SUDDEN INFANT DEATH SYNDROME,
Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A,
Atrial fibrillation, familial, 10, Sick sinus syndrome 1, Dilated cardiomyopathy 1E,
Brugada syndrome 1, Brugada syndrome ...see more		Uncertain significance
(Sep 12, 2022)		criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr3:38674570
GRCh38:
Chr3:38633079
SCN5AG77RCardiac arrhythmia, SUDDEN INFANT DEATH SYNDROME, Long QT syndrome 3,
Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A, Atrial fibrillation, familial, 10,
Sick sinus syndrome 1, Dilated cardiomyopathy 1E, Brugada syndrome 1,
Brugada syndrome		Uncertain significance
(Apr 12, 2022)		criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr3:38655514
GRCh38:
Chr3:38614023
SCN5AR219*not provided, Cardiac arrhythmia, Sick sinus syndrome 1
Conflicting interpretations of pathogenicity
(Jun 9, 2021)		criteria provided, conflicting interpretations
42.
GRCh37:
Chr3:38590754
GRCh38:
Chr3:38549263
SCN5ADilated cardiomyopathy 1E, Long QT syndrome 3, Sick sinus syndrome 1,
Brugada syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
43.
GRCh37:
Chr3:38592642
GRCh38:
Chr3:38551151
SCN5AD1687N, D1722N, D1723N, D1741N, D1708N, D1740NCardiovascular phenotype, Dilated cardiomyopathy 1E, Sick sinus syndrome 1,
Brugada syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A,
Long QT syndrome 3		Conflicting interpretations of pathogenicity
(Apr 20, 2022)		criteria provided, conflicting interpretations
44.
GRCh37:
Chr3:38590069
GRCh38:
Chr3:38548578
SCN5ADilated cardiomyopathy 1E, Sick sinus syndrome 1, Brugada syndrome 1,
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
45.
GRCh37:
Chr3:38591153
GRCh38:
Chr3:38549662
SCN5ADilated cardiomyopathy 1E, Sick sinus syndrome 1, Brugada syndrome 1,
Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A, Long QT syndrome 3
Uncertain significance
(Sep 23, 2019)		criteria provided, single submitter
46.
GRCh37:
Chr3:38590752
GRCh38:
Chr3:38549261
SCN5ADilated cardiomyopathy 1E, Sick sinus syndrome 1, Long QT syndrome 3,
Brugada syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
47.
GRCh37:
Chr3:38590398
GRCh38:
Chr3:38548907
SCN5ADilated cardiomyopathy 1E, Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1,
Progressive familial heart block, type 1A, Sick sinus syndrome 1, Brugada syndrome 1
Conflicting interpretations of pathogenicity
(Mar 14, 2018)		criteria provided, conflicting interpretations
48.
GRCh37:
Chr3:38592610
GRCh38:
Chr3:38551119
SCN5ADilated cardiomyopathy 1E, Sick sinus syndrome 1, Progressive familial heart block, type 1A,
Ventricular fibrillation, paroxysmal familial, type 1, Long QT syndrome 3, Brugada syndrome 1
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
49.
GRCh37:
Chr3:38590010
GRCh38:
Chr3:38548519
SCN5ADilated cardiomyopathy 1E, Progressive familial heart block, type 1A, Ventricular fibrillation, paroxysmal familial, type 1,
Sick sinus syndrome 1, Long QT syndrome 3, Brugada syndrome 1
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
50.
GRCh37:
Chr3:38589805
GRCh38:
Chr3:38548314
SCN5ADilated cardiomyopathy 1E, Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1,
Progressive familial heart block, type 1A, Sick sinus syndrome 1, Brugada syndrome 1
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
51.
GRCh37:
Chr3:38591337
GRCh38:
Chr3:38549846
SCN5ADilated cardiomyopathy 1E, Sick sinus syndrome 1, Long QT syndrome 3,
Brugada syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
52.
GRCh37:
Chr3:38622705
GRCh38:
Chr3:38581214
LOC110121269, SCN5AC982YDilated cardiomyopathy 1E, Sick sinus syndrome 1, Long QT syndrome 3,
Brugada syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A
Uncertain significance
(Apr 27, 2017)		criteria provided, single submitter
53.
GRCh37:
Chr3:38591150
GRCh38:
Chr3:38549659
SCN5ADilated cardiomyopathy 1E, Sick sinus syndrome 1, Long QT syndrome 3,
Brugada syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
54.
GRCh37:
Chr3:38618157
GRCh38:
Chr3:38576666
SCN5AT1115S, T1169S, T1168SBrugada syndrome, Dilated cardiomyopathy 1E, Sick sinus syndrome 1,
Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A,
Brugada syndrome 1		Uncertain significance
(Mar 18, 2022)		criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr3:38601887
GRCh38:
Chr3:38560396
SCN5ABrugada syndrome, Cardiovascular phenotype, Ventricular fibrillation, paroxysmal familial, type 1,
Dilated cardiomyopathy 1E, Sick sinus syndrome 1, Progressive familial heart block, type 1A,
not provided, Long QT syndrome 3, Brugada syndrome 1,
Cardiac arrhythmia		Conflicting interpretations of pathogenicity
(Oct 26, 2022)		criteria provided, conflicting interpretations
56.
GRCh37:
Chr3:38616927
GRCh38:
Chr3:38575436
SCN5AC1122Y, C1175Y, C1176YDilated cardiomyopathy 1E, Long QT syndrome 3, Sick sinus syndrome 1,
Brugada syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
57.
GRCh37:
Chr3:38655281
GRCh38:
Chr3:38613790
SCN5AR219PDilated cardiomyopathy 1E, Brugada syndrome 1, Sick sinus syndrome 1,
Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A
Uncertain significance
(Mar 30, 2018)		criteria provided, single submitter
58.
GRCh37:
Chr3:38590646
GRCh38:
Chr3:38549155
SCN5ADilated cardiomyopathy 1E, Brugada syndrome 1, Sick sinus syndrome 1,
Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
59.
GRCh37:
Chr3:38590611
GRCh38:
Chr3:38549120
SCN5ABrugada syndrome 1, Sick sinus syndrome 1, Dilated cardiomyopathy 1E,
Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
60.
GRCh37:
Chr3:38589992
GRCh38:
Chr3:38548501
SCN5ADilated cardiomyopathy 1E, Sick sinus syndrome 1, Progressive familial heart block, type 1A,
Brugada syndrome 1, Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1
Conflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
61.
GRCh37:
Chr3:38591681
GRCh38:
Chr3:38550190
SCN5ADilated cardiomyopathy 1E, Long QT syndrome 3, Sick sinus syndrome 1,
Brugada syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
62.
GRCh37:
Chr3:38622761
GRCh38:
Chr3:38581270
LOC110121269, SCN5ADilated cardiomyopathy 1E, Long QT syndrome 3, Sick sinus syndrome 1,
Brugada syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
63.
GRCh37:
Chr3:38591225
GRCh38:
Chr3:38549734
SCN5ADilated cardiomyopathy 1E, Brugada syndrome 1, Long QT syndrome 3,
Sick sinus syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
64.
GRCh37:
Chr3:38591198
GRCh38:
Chr3:38549707
SCN5Anot provided, Dilated cardiomyopathy 1E, Sick sinus syndrome 1,
Progressive familial heart block, type 1A, Brugada syndrome 1, Long QT syndrome 3,
Ventricular fibrillation, paroxysmal familial, type 1		Benign/Likely benign
(May 22, 2021)		criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr3:38591124
GRCh38:
Chr3:38549633
SCN5ADilated cardiomyopathy 1E, Long QT syndrome 3, Sick sinus syndrome 1,
Brugada syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A
Uncertain significance
(Mar 16, 2018)		criteria provided, single submitter
66.
GRCh37:
Chr3:38620953
GRCh38:
Chr3:38579462
LOC110121269, SCN5AA1088S, A1087SLong QT syndrome 3, Sick sinus syndrome 1, Dilated cardiomyopathy 1E,
Brugada syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
67.
GRCh37:
Chr3:38616906
GRCh38:
Chr3:38575415
SCN5AT1182I, T1183I, T1129IVentricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A, Dilated cardiomyopathy 1E,
Brugada syndrome 1, Sick sinus syndrome 1, Long QT syndrome 3,
Cardiac arrhythmia		Uncertain significance
(Dec 11, 2019)		criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr3:38691049
GRCh38:
Chr3:38649558
SCN5ABrugada syndrome 1, Sick sinus syndrome 1, Dilated cardiomyopathy 1E,
Progressive familial heart block, type 1A, Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
69.
GRCh37:
Chr3:38601807
GRCh38:
Chr3:38560316
SCN5AK1305T, K1358T, K1359TBrugada syndrome 1, Sick sinus syndrome 1, Dilated cardiomyopathy 1E,
Progressive familial heart block, type 1A, Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
70.
GRCh37:
Chr3:38598718
GRCh38:
Chr3:38557227
SCN5ABrugada syndrome 1, Long QT syndrome 3, Sick sinus syndrome 1,
Dilated cardiomyopathy 1E, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
71.
GRCh37:
Chr3:38590661
GRCh38:
Chr3:38549170
SCN5ABrugada syndrome 1, Sick sinus syndrome 1, Dilated cardiomyopathy 1E,
Progressive familial heart block, type 1A, Ventricular fibrillation, paroxysmal familial, type 1, Long QT syndrome 3
Uncertain significance
(Apr 27, 2017)		criteria provided, single submitter
72.
GRCh37:
Chr3:38590528
GRCh38:
Chr3:38549037
SCN5ABrugada syndrome 1, Sick sinus syndrome 1, Dilated cardiomyopathy 1E,
Progressive familial heart block, type 1A, Ventricular fibrillation, paroxysmal familial, type 1, Long QT syndrome 3
Benign/Likely benign
(Jan 12, 2018)		criteria provided, single submitter
73.
GRCh37:
Chr3:38590257
GRCh38:
Chr3:38548766
SCN5ABrugada syndrome 1, Sick sinus syndrome 1, Dilated cardiomyopathy 1E,
Progressive familial heart block, type 1A, Ventricular fibrillation, paroxysmal familial, type 1, Long QT syndrome 3
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
74.
GRCh37:
Chr3:38646370
GRCh38:
Chr3:38604879
SCN5ASick sinus syndrome 1, Brugada syndrome 1, Dilated cardiomyopathy 1E,
Progressive familial heart block, type 1A, Ventricular fibrillation, paroxysmal familial, type 1, Long QT syndrome 3
Uncertain significance
(Apr 27, 2017)		criteria provided, single submitter
75.
GRCh37:
Chr3:38589969
GRCh38:
Chr3:38548478
SCN5ABrugada 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
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
76.
GRCh37:
Chr3:38589928
GRCh38:
Chr3:38548437
SCN5ASick sinus syndrome 1, Brugada syndrome 1, Dilated cardiomyopathy 1E,
Progressive familial heart block, type 1A, Ventricular fibrillation, paroxysmal familial, type 1, Long QT syndrome 3
Benign/Likely benign
(Jan 12, 2018)		criteria provided, single submitter
77.
GRCh37:
Chr3:38592375
GRCh38:
Chr3:38550884
SCN5AP1776T, P1812T, P1829T, P1797T, P1830T, P1811TBrugada syndrome 1, Sick sinus syndrome 1, Dilated cardiomyopathy 1E,
Progressive familial heart block, type 1A, Ventricular fibrillation, paroxysmal familial, type 1, Long QT syndrome 3
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
78.
GRCh37:
Chr3:38592339
GRCh38:
Chr3:38550848
SCN5AM1788L, M1809L, M1823L, M1841L, M1824L, M1842LBrugada syndrome, Brugada syndrome 1, Sick sinus syndrome 1,
Dilated cardiomyopathy 1E, Progressive familial heart block, type 1A, Ventricular fibrillation, paroxysmal familial, type 1,
Long QT syndrome 3		Uncertain significance
(Aug 31, 2021)		criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr3:38607934
GRCh38:
Chr3:38566443
SCN5AN1215S, N1268S, N1269SBrugada syndrome, Cardiovascular phenotype, Ventricular fibrillation, paroxysmal familial, type 1,
Progressive familial heart block, type 1A, Dilated cardiomyopathy 1E, Brugada syndrome 1,
Sick sinus syndrome 1, Long QT syndrome 3, not provided,
Cardiac arrhythmia		Uncertain significance
(May 18, 2022)		criteria provided, multiple submitters, no conflicts
80.
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
81.
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
82.
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
83.
GRCh37:
Chr3:38671878
GRCh38:
Chr3:38630387
SCN5AS106GCardiac arrhythmia, Progressive familial heart block, type 1A, Brugada syndrome 1,
SUDDEN INFANT DEATH SYNDROME, Dilated cardiomyopathy 1E, Long QT syndrome 3,
Atrial fibrillation, familial, 10, Ventricular fibrillation, paroxysmal familial, type 1, Sick sinus syndrome 1,
Brugada syndrome		Uncertain significance
(Mar 18, 2022)		criteria provided, multiple submitters, no conflicts
84.
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
85.
GRCh37:
Chr3:38674553
GRCh38:
Chr3:38633062
SCN5AD82EVentricular fibrillation, paroxysmal familial, type 1, Atrial fibrillation, familial, 10, SUDDEN INFANT DEATH SYNDROME,
Progressive familial heart block, type 1A, Brugada syndrome 1, Dilated cardiomyopathy 1E,
Long QT syndrome 3, Sick sinus syndrome 1, SCN5A-related condition,
Cardiovascular phenotype, Cardiac arrhythmianot provided,
Brugada syndrome, ...see more		Uncertain significance
(Oct 31, 2022)		criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr3:38646221
GRCh38:
Chr3:38604730
SCN5AM506KVentricular fibrillation, paroxysmal familial, type 1, Atrial fibrillation, familial, 10, SUDDEN INFANT DEATH SYNDROME,
Progressive familial heart block, type 1A, Brugada syndrome 1, Dilated cardiomyopathy 1E,
Long QT syndrome 3, Sick sinus syndrome 1, Cardiac arrhythmia,
not provided, Brugada syndrome ...see more		Uncertain significance
(Oct 18, 2021)		criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr3:38674631
GRCh38:
Chr3:38633140
SCN5ALong QT syndrome 3, Sick 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, Atrial fibrillation, familial, 10, Brugada syndrome
Likely benign
(Jul 26, 2021)		criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr3:38640440
GRCh38:
Chr3:38598949
SCN5ABrugada syndrome 1, Sick sinus syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1,
SUDDEN INFANT DEATH SYNDROME, Long QT syndrome 3, Dilated cardiomyopathy 1E,
Progressive familial heart block, type 1A, Atrial fibrillation, familial, 10, Cardiovascular phenotype,
Brugada syndrome, Cardiac arrhythmia ...see more		Likely benign
(Sep 1, 2021)		criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr3:38592013
GRCh38:
Chr3:38550522
SCN5ACardiovascular phenotype, Brugada syndrome, Sick sinus syndrome 1,
Progressive familial heart block, type 1A, Dilated cardiomyopathy 1E, Cardiac arrhythmia,
Ventricular fibrillation, paroxysmal familial, type 1, Long QT syndrome 3, Brugada syndrome 1
Conflicting interpretations of pathogenicity
(Oct 28, 2022)		criteria provided, conflicting interpretations
90.
GRCh37:
Chr3:38662377
GRCh38:
Chr3:38620886
SCN5AR190WCardiac arrhythmia, Brugada syndrome 1, Sick sinus syndrome 1,
Cardiovascular phenotype, not provided, Brugada syndrome
Uncertain significance
(Aug 16, 2022)		criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr3:38603922
GRCh38:
Chr3:38562431
SCN5AR1262Q, R1315Q, R1316QCardiac arrhythmia, Brugada syndrome, Brugada syndrome 1,
Progressive familial heart block, type 1A, Ventricular fibrillation, paroxysmal familial, type 1, Atrial fibrillation, familial, 10,
Long QT syndrome 3, Dilated cardiomyopathy 1E, SUDDEN INFANT DEATH SYNDROME,
Sick sinus syndrome 1		Uncertain significance
(Jun 13, 2022)		criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr3:38618221
GRCh38:
Chr3:38576730
SCN5AA1094T, A1147T, A1148TBrugada syndrome, Dilated cardiomyopathy 1E, Atrial fibrillation, familial, 10,
Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1, Brugada syndrome 1,
SUDDEN INFANT DEATH SYNDROME, Sick sinus syndrome 1, Progressive familial heart block, type 1A,
Cardiac arrhythmia		Uncertain significance
(Oct 18, 2022)		criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr3:38639300
GRCh38:
Chr3:38597809
SCN5AV728IBrugada syndrome, Dilated cardiomyopathy 1E, Atrial fibrillation, familial, 10,
Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1, Brugada syndrome 1,
SUDDEN INFANT DEATH SYNDROME, Sick sinus syndrome 1, Progressive familial heart block, type 1A,
not provided, Cardiac arrhythmianot specified,
Cardiovascular phenotype, ...see more		Uncertain significance
(Sep 7, 2022)		criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr3:38591895
GRCh38:
Chr3:38550404
SCN5AV1989L, V1990L, V1936L, V1972L, V1957L, V1971LCardiovascular phenotype, Brugada syndrome, Cardiac arrhythmia,
Progressive familial heart block, type 1A, Dilated cardiomyopathy 1E, Brugada syndrome 1,
Sick sinus syndrome 1, Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1
Uncertain significance
(Mar 26, 2022)		criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr3:38607942
GRCh38:
Chr3:38566451
SCN5Anot provided, Brugada syndrome, Dilated cardiomyopathy 1E,
Sick sinus syndrome 1, Progressive familial heart block, type 1A, Cardiovascular phenotype,
Cardiac arrhythmia, Long QT syndrome 3, Brugada syndrome 1,
Ventricular fibrillation, paroxysmal familial, type 1		Conflicting interpretations of pathogenicity
(Apr 9, 2022)		criteria provided, conflicting interpretations
96.
GRCh37:
Chr3:38598729
GRCh38:
Chr3:38557238
SCN5AS1430C, S1431C, S1377CDilated cardiomyopathy 1E, Sick sinus syndrome 1, Progressive familial heart block, type 1A,
Cardiac arrhythmia, Long QT syndrome 3, Brugada syndrome 1,
Ventricular fibrillation, paroxysmal familial, type 1		Uncertain significance
(Aug 28, 2018)		criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr3:38645487
GRCh38:
Chr3:38603996
SCN5AD536HDilated cardiomyopathy 1E, Atrial fibrillation, familial, 10, Long QT syndrome 3,
Ventricular fibrillation, paroxysmal familial, type 1, Brugada syndrome 1, SUDDEN INFANT DEATH SYNDROME,
Sick sinus syndrome 1, Progressive familial heart block, type 1A, Cardiac arrhythmia
Uncertain significance
(Sep 30, 2021)		criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr3:38592457
GRCh38:
Chr3:38550966
SCN5AD1801E, D1802E, D1769E, D1784E, D1748E, D1783EDilated cardiomyopathy 1E, Atrial fibrillation, familial, 10, Long QT syndrome 3,
Ventricular fibrillation, paroxysmal familial, type 1, Brugada syndrome 1, SUDDEN INFANT DEATH SYNDROME,
Sick sinus syndrome 1, Progressive familial heart block, type 1A, Brugada syndrome,
Cardiac arrhythmia		Uncertain significance
(May 25, 2022)		criteria provided, multiple submitters, no conflicts
99.
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
100.
GRCh37:
Chr3:38592068
GRCh38:
Chr3:38550577
SCN5AA1931V, A1932V, A1878V, A1899V, A1913V, A1914VCardiovascular phenotype, Brugada syndrome, Primary dilated cardiomyopathy,
Cardiac arrhythmia, Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1,
Brugada syndrome 1, Dilated cardiomyopathy 1E, Sick sinus syndrome 1,
Progressive familial heart block, type 1A, SUDDEN INFANT DEATH SYNDROMEAtrial fibrillation, familial, 10,
...see more		Conflicting interpretations of pathogenicity
(May 22, 2023)		criteria provided, conflicting interpretations
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