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Links from MedGen

Items: 1 to 100 of 515

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr3:38627265
GRCh38:
Chr3:38585774
SCN5AT902SBrugada syndrome 1Uncertain significance
(May 23, 2023)		criteria provided, single submitter
2.
GRCh37:
Chr3:38591964
GRCh38:
Chr3:38550473
SCN5AS1913fs, S1934fs, S1948fs, S1949fs, S1966fs, S1967fsBrugada syndrome 1Uncertain significance
(Nov 5, 2020)		criteria provided, single submitter
3.
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
4.
GRCh37:
Chr3:38651319
GRCh38:
Chr3:38609828
SCN5AC280*Brugada syndrome 1Likely pathogenic
(Mar 16, 2023)		criteria provided, single submitter
5.
GRCh37:
Chr3:38674694-38674695
GRCh38:
Chr3:38633203-38633204
SCN5AS36fsBrugada syndrome 1Pathogenic
(Oct 10, 2022)		no assertion criteria provided
6.
GRCh37:
Chr19:35530029-35530030
GRCh38:
Chr19:35039125-35039126
SCN1BD120fs, D153fsBrugada syndrome 1Uncertain significance
(Jun 2, 2022)		no assertion criteria provided
7.
GRCh37:
Chr3:38674624
GRCh38:
Chr3:38633133
SCN5AQ59*Brugada syndrome, not provided, Brugada syndrome 1
Pathogenic/Likely pathogenic
(Jul 1, 2022)		criteria provided, multiple submitters, no conflicts
8.
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
9.
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
10.
GRCh37:
Chr3:38598722
GRCh38:
Chr3:38557231
SCN5ABrugada syndrome 1Likely pathogenic
(Aug 23, 2021)		criteria provided, single submitter
11.
GRCh37:
Chr3:38627291
GRCh38:
Chr3:38585800
SCN5AR893LBrugada syndrome 1Pathogenic
(Jul 19, 2021)		criteria provided, single submitter
12.
GRCh37:
Chr3:38592607-38592609
GRCh38:
Chr3:38551116-38551118
SCN5AF1698del, F1752del, F1751del, F1719del, F1733del, F1734delBrugada syndrome, Brugada syndrome 1Conflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
13.
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
14.
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
15.
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
16.
GRCh37:
Chr3:38655233
GRCh38:
Chr3:38613742
SCN5ABrugada syndrome, Brugada syndrome 1Likely pathogenic
(Jun 16, 2023)		criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr3:38592372
GRCh38:
Chr3:38550881
SCN5AN1777H, N1798H, N1812H, N1813H, N1830H, N1831HSUDDEN INFANT DEATH SYNDROME, Atrial fibrillation, familial, 10, Brugada syndrome 1,
Dilated cardiomyopathy 1E, Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1,
Sick sinus syndrome 1, Progressive familial heart block, type 1A, Cardiac arrhythmia
Uncertain significance
(Oct 11, 2021)		criteria provided, multiple submitters, no conflicts
18.
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
19.
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
20.
GRCh37:
Chr3:38592774
GRCh38:
Chr3:38551283
SCN5AF1643L, F1664L, F1678L, F1679L, F1696L, F1697LCardiac arrhythmia, SUDDEN INFANT DEATH SYNDROME, Ventricular fibrillation, paroxysmal familial, type 1,
Sick sinus syndrome 1, Brugada syndrome 1, Dilated cardiomyopathy 1E,
Atrial fibrillation, familial, 10, Long QT syndrome 3, Progressive familial heart block, type 1A
Uncertain significance
(Jul 26, 2021)		criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr3:38616921
GRCh38:
Chr3:38575430
SCN5AC1124S, C1177S, C1178SCardiac arrhythmia, Brugada syndrome, SUDDEN INFANT DEATH SYNDROME,
Ventricular fibrillation, paroxysmal familial, type 1, Sick sinus syndrome 1, Brugada syndrome 1,
Dilated cardiomyopathy 1E, Atrial fibrillation, familial, 10, Long QT syndrome 3,
Progressive familial heart block, type 1A		Uncertain significance
(Aug 24, 2021)		criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr3:38618163
GRCh38:
Chr3:38576672
SCN5AC1113Y, C1166Y, C1167YCardiac arrhythmia, not provided, SUDDEN INFANT DEATH SYNDROME,
Ventricular fibrillation, paroxysmal familial, type 1, Sick sinus syndrome 1, Brugada syndrome 1,
Dilated cardiomyopathy 1E, Atrial fibrillation, familial, 10, Long QT syndrome 3,
Progressive familial heart block, type 1A, Brugada syndrome ...see more		Uncertain significance
(Aug 21, 2022)		criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr3:38591951-38591952
GRCh38:
Chr3:38550460-38550461
SCN5ACardiac arrhythmia, SUDDEN INFANT DEATH SYNDROME, Dilated cardiomyopathy 1E,
Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1, Sick sinus syndrome 1,
Atrial fibrillation, familial, 10, Progressive familial heart block, type 1A, Brugada syndrome 1
Uncertain significance
(Oct 14, 2021)		criteria provided, multiple submitters, no conflicts
24.
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
25.
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
26.
GRCh37:
Chr3:38645416
GRCh38:
Chr3:38603925
SCN5ABrugada syndrome, Cardiac arrhythmia, Cardiovascular phenotype,
SUDDEN INFANT DEATH SYNDROME, Dilated cardiomyopathy 1E, Long QT syndrome 3,
Ventricular fibrillation, paroxysmal familial, type 1, Sick sinus syndrome 1, Atrial fibrillation, familial, 10,
Progressive familial heart block, type 1A, Brugada syndrome 1 ...see more		Likely benign
(Oct 7, 2022)		criteria provided, multiple submitters, no conflicts
27.
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
28.
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
29.
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
30.
GRCh37:
Chr3:38629052
GRCh38:
Chr3:38587561
SCN5AI759VCardiac arrhythmia, 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,
Cardiovascular phenotype, Brugada syndrome ...see more		Uncertain significance
(Oct 16, 2021)		criteria provided, multiple submitters, no conflicts
31.
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
32.
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
33.
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
34.
GRCh37:
Chr3:38627192
GRCh38:
Chr3:38585701
SCN5AG926DBrugada syndrome, Brugada syndrome 1Conflicting interpretations of pathogenicity
(Mar 25, 2022)		criteria provided, conflicting interpretations
35.
GRCh37:
Chr3:38597173
GRCh38:
Chr3:38555682
SCN5AP1452S, P1487S, P1488S, P1505S, P1506SBrugada syndrome, Brugada syndrome 1Conflicting interpretations of pathogenicity
(Jun 25, 2022)		criteria provided, conflicting interpretations
36.
GRCh37:
Chr3:38627180
GRCh38:
Chr3:38585689
SCN5ABrugada syndrome 1Pathogenic
(Jul 5, 2020)		criteria provided, single submitter
37.
GRCh37:
Chr3:38608049
GRCh38:
Chr3:38566558
SCN5AE1177*, E1230*, E1231*Brugada syndrome 1Pathogenic
(Jun 26, 2020)		criteria provided, single submitter
38.
GRCh37:
Chr3:38618223
GRCh38:
Chr3:38576732
SCN5AT1093N, T1146N, T1147NCardiac arrhythmia, Long QT syndrome 3, Brugada syndrome 1,
Brugada syndrome		Uncertain significance
(Jan 2, 2022)		criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr3:38628992
GRCh38:
Chr3:38587501
SCN5AQ779fsLong QT syndrome 3, Brugada syndrome 1Likely pathogenic
(Oct 8, 2018)		criteria provided, single submitter
40.
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
41.
GRCh37:
Chr3:38645243
GRCh38:
Chr3:38603752
SCN5AH617LBrugada syndrome, Brugada syndrome 1Uncertain significance
(Aug 28, 2021)		criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr3:38592030-38592033
GRCh38:
Chr3:38550539-38550542
SCN5AE1891fs, E1912fs, E1926fs, E1927fs, E1944fs, E1945fsBrugada syndrome 1Uncertain significance
(Feb 21, 2020)		criteria provided, single submitter
43.
GRCh37:
Chr3:38647582
GRCh38:
Chr3:38606091
SCN5AG400WBrugada syndrome 1Likely pathogenic
(Mar 18, 2020)		criteria provided, single submitter
44.
GRCh37:
Chr3:38640469
GRCh38:
Chr3:38598978
SCN5AE655*Brugada syndrome 1Pathogenic
(Jan 30, 2020)		criteria provided, single submitter
45.
GRCh37:
Chr3:38639404
GRCh38:
Chr3:38597913
SCN5AR693LCardiac arrhythmia, Brugada syndrome, Long QT syndrome 3,
Brugada syndrome 1		Uncertain significance
(Mar 28, 2022)		criteria provided, multiple submitters, no conflicts
46.
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
47.
GRCh37:
Chr3:38645535
GRCh38:
Chr3:38604044
SCN5AM520VCardiovascular phenotype, Brugada syndrome 1, Brugada syndrome
Conflicting interpretations of pathogenicity
(Sep 23, 2022)		criteria provided, conflicting interpretations
48.
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
49.
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
50.
GRCh37:
Chr3:38591853
GRCh38:
Chr3:38550362
SCN5AF1971I, F2004I, F1950I, F1985I, F2003I, F1986ICardiovascular phenotype, Dilated cardiomyopathy 1E, Brugada syndrome 1,
Long QT syndrome 3, SUDDEN 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, Cardiac arrhythmia ...see more		Uncertain significance
(Jul 13, 2022)		criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr3:38645234
GRCh38:
Chr3:38603743
SCN5AR620HDilated cardiomyopathy 1E, Brugada syndrome 1, Long QT syndrome 3,
SUDDEN INFANT DEATH SYNDROME, Atrial fibrillation, familial, 10, Sick sinus syndrome 1,
Progressive familial heart block, type 1A, Ventricular fibrillation, paroxysmal familial, type 1, Cardiac arrhythmia,
Brugada syndrome		Uncertain significance
(Oct 13, 2022)		criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr3:38618272
GRCh38:
Chr3:38576781
SCN5AT1077S, T1131S, T1130SCardiac arrhythmia, Dilated cardiomyopathy 1E, Brugada syndrome 1,
Long QT syndrome 3, SUDDEN INFANT DEATH SYNDROME, Atrial fibrillation, familial, 10,
Sick sinus syndrome 1, Progressive familial heart block, type 1A, Ventricular fibrillation, paroxysmal familial, type 1
Uncertain significance
(Sep 29, 2021)		criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr3:38646350
GRCh38:
Chr3:38604859
SCN5AM463RBrugada syndrome, Dilated cardiomyopathy 1E, Brugada syndrome 1,
Long QT syndrome 3, SUDDEN INFANT DEATH SYNDROME, Atrial fibrillation, familial, 10,
Sick sinus syndrome 1, Progressive familial heart block, type 1A, Ventricular fibrillation, paroxysmal familial, type 1,
Cardiac arrhythmia		Uncertain significance
(Aug 26, 2021)		criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr3:38620907
GRCh38:
Chr3:38579416
LOC110121269, SCN5AS1102F, S1103FBrugada syndrome, Dilated cardiomyopathy 1E, Brugada syndrome 1,
Long QT syndrome 3, SUDDEN INFANT DEATH SYNDROME, Atrial fibrillation, familial, 10,
Sick sinus syndrome 1, Progressive familial heart block, type 1A, Ventricular fibrillation, paroxysmal familial, type 1,
not provided, Cardiac arrhythmia ...see more		Uncertain significance
(Jul 20, 2022)		criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr3:38616874
GRCh38:
Chr3:38575383
SCN5AL1140M, L1193M, L1194Mnot provided, Dilated cardiomyopathy 1E, Brugada syndrome 1,
Long QT syndrome 3, SUDDEN INFANT DEATH SYNDROME, Atrial fibrillation, familial, 10,
Sick sinus syndrome 1, Progressive familial heart block, type 1A, Ventricular fibrillation, paroxysmal familial, type 1,
Cardiac arrhythmia		Uncertain significance
(Oct 21, 2021)		criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr3:38627421
GRCh38:
Chr3:38585930
SCN5AV850Mnot provided, Brugada syndrome 1, Brugada syndrome,
Cardiovascular phenotype, Cardiac arrhythmia		Uncertain significance
(Sep 27, 2022)		criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr3:38674672
GRCh38:
Chr3:38633181
SCN5AR43*Cardiac arrhythmia, Brugada syndrome 1, Long QT syndrome 3
Pathogenic
(Jul 2, 2021)		criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr3:38616928
GRCh38:
Chr3:38575437
SCN5AC1175R, C1176R, C1122RDilated cardiomyopathy 1E, Brugada syndrome 1, Long QT syndrome 3,
SUDDEN INFANT DEATH SYNDROME, Atrial fibrillation, familial, 10, Sick sinus syndrome 1,
Progressive familial heart block, type 1A, Ventricular fibrillation, paroxysmal familial, type 1, Cardiac arrhythmia
Uncertain significance
(Oct 8, 2021)		criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr3:38616887
GRCh38:
Chr3:38575396
SCN5ACardiac arrhythmia, Dilated cardiomyopathy 1E, Brugada syndrome 1,
Long QT syndrome 3, SUDDEN INFANT DEATH SYNDROME, Atrial fibrillation, familial, 10,
Sick sinus syndrome 1, Progressive familial heart block, type 1A, Ventricular fibrillation, paroxysmal familial, type 1
Conflicting interpretations of pathogenicity
(Mar 30, 2021)		criteria provided, conflicting interpretations
60.
GRCh37:
Chr3:38640486
GRCh38:
Chr3:38598995
SCN5AC649YCardiac arrhythmia, Dilated cardiomyopathy 1E, Brugada syndrome 1,
Long QT syndrome 3, SUDDEN INFANT DEATH SYNDROME, Atrial fibrillation, familial, 10,
Sick sinus syndrome 1, Progressive familial heart block, type 1A, Ventricular fibrillation, paroxysmal familial, type 1,
Cardiovascular phenotype, Brugada syndrome ...see more		Uncertain significance
(Nov 2, 2021)		criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr3:38592005
GRCh38:
Chr3:38550514
SCN5AS1899N, S1952N, S1920N, S1953N, S1935N, S1934NCardiac arrhythmia, Long QT syndrome 3, Progressive familial heart block, type 1A,
Brugada syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E,
SUDDEN INFANT DEATH SYNDROME, Sick sinus syndrome 1, Atrial fibrillation, familial, 10,
Cardiovascular phenotype		Conflicting interpretations of pathogenicity
(Oct 6, 2021)		criteria provided, conflicting interpretations
62.
GRCh37:
Chr3:38592406-38592408
GRCh38:
Chr3:38550915-38550917
SCN5AD1801N, D1819N, D1786N, D1818N, D1765N, D1800NLong QT syndrome 3, Progressive familial heart block, type 1A, Brugada syndrome 1,
Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E, SUDDEN INFANT DEATH SYNDROME,
Sick sinus syndrome 1, Atrial fibrillation, familial, 10, Cardiac arrhythmia,
Cardiovascular phenotype		Conflicting interpretations of pathogenicity
(Jan 11, 2023)		criteria provided, conflicting interpretations
63.
GRCh37:
Chr3:38640477
GRCh38:
Chr3:38598986
SCN5AG652Dnot provided, Long QT syndrome 3, Progressive familial heart block, type 1A,
Brugada syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E,
SUDDEN INFANT DEATH SYNDROME, Sick sinus syndrome 1, Atrial fibrillation, familial, 10,
Brugada syndrome, Cardiac arrhythmia ...see more		Uncertain significance
(Sep 12, 2022)		criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr3:38674570
GRCh38:
Chr3:38633079
SCN5AG77RLong QT syndrome 3, Progressive familial heart block, type 1A, Brugada syndrome 1,
Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E, SUDDEN INFANT DEATH SYNDROME,
Sick sinus syndrome 1, Atrial fibrillation, familial, 10, Brugada syndrome,
Cardiac arrhythmia		Uncertain significance
(Apr 12, 2022)		criteria provided, multiple submitters, no conflicts
65.
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
66.
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
67.
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
68.
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
69.
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
70.
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
71.
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
72.
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
73.
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
74.
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
75.
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
76.
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
77.
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
78.
GRCh37:
Chr3:38601887
GRCh38:
Chr3:38560396
SCN5ALong QT syndrome 3, Brugada syndrome 1, Sick sinus syndrome 1,
Cardiac arrhythmia, Brugada syndrome, Ventricular fibrillation, paroxysmal familial, type 1,
Cardiovascular phenotype, not provided, Progressive familial heart block, type 1A,
Dilated cardiomyopathy 1E		Conflicting interpretations of pathogenicity
(Oct 26, 2022)		criteria provided, conflicting interpretations
79.
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
80.
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
81.
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
82.
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
83.
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
84.
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
85.
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
86.
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
87.
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
88.
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
89.
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
90.
GRCh37:
Chr3:38616906
GRCh38:
Chr3:38575415
SCN5AT1182I, T1183I, T1129ILong QT syndrome 3, Brugada syndrome 1, Sick sinus syndrome 1,
Cardiac arrhythmia, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A,
Dilated cardiomyopathy 1E		Uncertain significance
(Dec 11, 2019)		criteria provided, multiple submitters, no conflicts
91.
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
92.
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
93.
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
94.
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
95.
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
96.
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
97.
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
98.
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
99.
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
100.
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
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