SCN5A[gene] AND (clinsig_pathogenic[prop] OR clinsig_likely_pathogenic - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 4173761.	NC_000003.12:g.(?_38548062)_(38551558_?)del GRCh37: Chr3:38589553-38593049 GRCh38: Chr3:38548062-38551558	SCN5A		Brugada syndrome	Likely pathogenic (Sep 23, 2016)	criteria provided, single submitter
Select item 4037332.	NM_000335.5(SCN5A):c.6045G>A (p.Val2015=) GRCh37: Chr3:38591815 GRCh38: Chr3:38550324	SCN5A		Familial isolated arrhythmogenic right ventricular dysplasia	Pathogenic	criteria provided, single submitter
Select item 13199723.	NM_000335.5(SCN5A):c.5684_5685del (p.Leu1895fs) GRCh37: Chr3:38592175-38592176 GRCh38: Chr3:38550684-38550685	SCN5A	L1842fs, L1863fs, L1877fs, L1878fs, L1895fs, L1896fs	Brugada syndrome	Likely pathogenic (Oct 21, 2021)	criteria provided, single submitter
Select item 2015424.	NM_000335.5(SCN5A):c.5623G>A (p.Glu1875Lys) GRCh37: Chr3:38592237 GRCh38: Chr3:38550746	SCN5A	E1875K, E1876K, E1843K, E1858K, E1822K, E1857K	not provided	Likely pathogenic (Dec 6, 2012)	criteria provided, single submitter
Select item 680025.	NM_000335.5(SCN5A):c.5621T>C (p.Met1874Thr) GRCh37: Chr3:38592239 GRCh38: Chr3:38550748	SCN5A	M1874T, M1875T, M1842T, M1856T, M1857T, M1821T	not provided, Brugada syndrome	Likely pathogenic (Aug 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 5729576.	NM_000335.5(SCN5A):c.5596G>T (p.Glu1866Ter) GRCh37: Chr3:38592264 GRCh38: Chr3:38550773	SCN5A	E1866, E1867, E1834, E1848, E1813, E1849	Brugada syndrome	Likely pathogenic (Jul 13, 2021)	criteria provided, single submitter
Select item 4064187.	NM_000335.5(SCN5A):c.5587G>T (p.Glu1863Ter) GRCh37: Chr3:38592273 GRCh38: Chr3:38550782	SCN5A	E1863, E1864, E1831, E1845, E1810, E1846	Brugada syndrome	Pathogenic (Aug 31, 2021)	criteria provided, single submitter
Select item 4203428.	NM_000335.5(SCN5A):c.5527_5530dup (p.Gly1844fs) GRCh37: Chr3:38592329-38592330 GRCh38: Chr3:38550838-38550839	SCN5A	G1826fs, G1845fs, G1827fs, G1844fs, G1791fs, G1812fs	not provided	Likely pathogenic (Jan 11, 2016)	criteria provided, single submitter
Select item 8568909.	NM_000335.5(SCN5A):c.5491del (p.Gln1831fs) GRCh37: Chr3:38592369 GRCh38: Chr3:38550878	SCN5A	Q1799fs, Q1831fs, Q1778fs, Q1813fs, Q1814fs, Q1832fs	Brugada syndrome	Pathogenic (Sep 2, 2021)	criteria provided, single submitter
Select item 20157310.	NM_000335.5(SCN5A):c.5461_5464del (p.Glu1822fs) GRCh37: Chr3:38592396-38592399 GRCh38: Chr3:38550905-38550908	SCN5A	E1822fs, E1823fs, E1769fs, E1790fs, E1804fs, E1805fs	Cardiovascular phenotype, not provided, Brugada syndrome	Pathogenic/Likely pathogenic (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 45218411.	NM_000335.5(SCN5A):c.5458_5459del (p.Leu1820fs) GRCh37: Chr3:38592401-38592402 GRCh38: Chr3:38550910-38550911	SCN5A	L1803fs, L1821fs, L1788fs, L1802fs, L1767fs, L1820fs	Brugada syndrome, not provided	Pathogenic/Likely pathogenic (Jan 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 145228512.	NM_000335.5(SCN5A):c.5443_5446del (p.Asp1815fs) GRCh37: Chr3:38592414-38592417 GRCh38: Chr3:38550923-38550926	SCN5A	D1762fs, D1798fs, D1816fs, D1797fs, D1783fs, D1815fs	Brugada syndrome	Pathogenic (Nov 26, 2021)	criteria provided, single submitter
Select item 98449213.	NM_000335.5(SCN5A):c.5440_5443del (p.Ser1814fs) GRCh37: Chr3:38592417-38592420 GRCh38: Chr3:38550926-38550929	SCN5A	S1761fs, S1782fs, S1796fs, S1797fs, S1814fs, S1815fs	Cardiac arrhythmia	Likely pathogenic (Oct 26, 2020)	criteria provided, single submitter
Select item 40644014.	NM_000335.5(SCN5A):c.5425G>T (p.Glu1809Ter) GRCh37: Chr3:38592435 GRCh38: Chr3:38550944	SCN5A	E1810, E1809, E1777, E1792, E1756, E1791	Brugada syndrome	Pathogenic (Jul 14, 2021)	criteria provided, single submitter
Select item 40641515.	NM_000335.5(SCN5A):c.5414_5417del (p.Thr1805fs) GRCh37: Chr3:38592443-38592446 GRCh38: Chr3:38550952-38550955	SCN5A	T1773fs, T1806fs, T1787fs, T1752fs, T1805fs, T1788fs	Atrial fibrillation, familial, 10, 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, Sick sinus syndrome 1, Cardiovascular phenotype, Brugada syndrome	Pathogenic/Likely pathogenic (Feb 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 938216.	NM_000335.5(SCN5A):c.5382_5384dup (p.Tyr1794_Glu1795insAsp) GRCh37: Chr3:38592475-38592476 GRCh38: Chr3:38550984-38550985	SCN5A		not provided, Brugada syndrome 1, Long QT syndrome 3	Pathogenic (Mar 12, 2002)	no assertion criteria provided
Select item 58335417.	NM_000335.5(SCN5A):c.5383G>T (p.Glu1795Ter) GRCh37: Chr3:38592477 GRCh38: Chr3:38550986	SCN5A	E1796, E1795, E1778, E1763, E1742, E1777	Brugada syndrome	Pathogenic (Apr 3, 2018)	criteria provided, single submitter
Select item 57973418.	NM_000335.5(SCN5A):c.5381_5382del (p.Phe1793_Tyr1794insTer) GRCh37: Chr3:38592478-38592479 GRCh38: Chr3:38550987-38550988	SCN5A		Brugada syndrome	Pathogenic (Sep 2, 2021)	criteria provided, single submitter
Select item 937519.	NM_000335.5(SCN5A):c.5381A>G (p.Tyr1794Cys) GRCh37: Chr3:38592479 GRCh38: Chr3:38550988	SCN5A	Y1795C, Y1794C, Y1762C, Y1777C, Y1741C, Y1776C	Cardiovascular phenotype, not provided, Brugada syndrome	Pathogenic (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 939720.	NM_000335.5(SCN5A):c.5380T>C (p.Tyr1794His) GRCh37: Chr3:38592480 GRCh38: Chr3:38550989	SCN5A	Y1795H, Y1794H, Y1741H, Y1776H, Y1777H, Y1762H	Brugada syndrome 1	Pathogenic (Aug 17, 2001)	no assertion criteria provided
Select item 85334621.	NM_000335.5(SCN5A):c.5378del (p.Phe1793fs) GRCh37: Chr3:38592482 GRCh38: Chr3:38550991	SCN5A	F1775fs, F1794fs, F1740fs, F1761fs, F1776fs, F1793fs	Brugada syndrome	Pathogenic (Aug 27, 2021)	criteria provided, single submitter
Select item 6798922.	NM_000335.5(SCN5A):c.5366A>G (p.Asp1789Gly) GRCh37: Chr3:38592494 GRCh38: Chr3:38551003	SCN5A	D1789G, D1790G, D1736G, D1771G, D1772G, D1757G	Brugada syndrome	Pathogenic (Sep 22, 2022)	criteria provided, single submitter
Select item 57225223.	NM_000335.5(SCN5A):c.5358_5361del (p.Ser1786fs) GRCh37: Chr3:38592499-38592502 GRCh38: Chr3:38551008-38551011	SCN5A	S1754fs, S1733fs, S1768fs, S1769fs, S1786fs, S1787fs	Brugada syndrome	Pathogenic (Jul 2, 2018)	criteria provided, single submitter
Select item 69225824.	NM_000335.5(SCN5A):c.5354T>C (p.Leu1785Pro) GRCh37: Chr3:38592506 GRCh38: Chr3:38551015	SCN5A	L1785P, L1786P, L1767P, L1768P, L1732P, L1753P	Long QT syndrome 3	Likely pathogenic (Feb 21, 2019)	criteria provided, single submitter
Select item 25415625.	NM_000335.5(SCN5A):c.5353_5354del (p.Leu1785fs) GRCh37: Chr3:38592506-38592507 GRCh38: Chr3:38551015-38551016	SCN5A	L1732fs, L1768fs, L1785fs, L1767fs, L1753fs, L1786fs	Cardiac arrhythmia, Brugada syndrome, Brugada syndrome 1	Pathogenic/Likely pathogenic (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 6798726.	NM_000335.5(SCN5A):c.5354T>A (p.Leu1785Gln) GRCh37: Chr3:38592506 GRCh38: Chr3:38551015	SCN5A	L1785Q, L1786Q, L1767Q, L1753Q, L1768Q, L1732Q	Brugada syndrome	Likely pathogenic (Aug 29, 2022)	criteria provided, single submitter
Select item 937727.	NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) GRCh37: Chr3:38592513 GRCh38: Chr3:38551022	SCN5A	E1784K, E1783K, E1751K, E1765K, E1730K, E1766K	Congenital long QT syndrome, Brugada syndrome, Cardiovascular phenotype, SCN5A-Related Disorders, not provided, Brugada syndrome, Long QT syndrome 3, Long QT syndrome 1	Pathogenic/Likely pathogenic (Oct 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 242892028.	NM_000335.5(SCN5A):c.5341_5342del (p.Ser1781fs) GRCh37: Chr3:38592518-38592519 GRCh38: Chr3:38551027-38551028	SCN5A	S1728fs, S1749fs, S1763fs, S1764fs, S1781fs, S1782fs	not provided	Likely pathogenic (Feb 3, 2023)	criteria provided, single submitter
Select item 92710429.	NM_000335.5(SCN5A):c.5318del (p.Asn1773fs) GRCh37: Chr3:38592542 GRCh38: Chr3:38551051	SCN5A	N1774fs, N1720fs, N1741fs, N1756fs, N1755fs, N1773fs	Cardiac arrhythmia	Likely pathogenic (Feb 12, 2020)	criteria provided, single submitter
Select item 6798030.	NM_000335.5(SCN5A):c.5299A>G (p.Ile1767Val) GRCh37: Chr3:38592561 GRCh38: Chr3:38551070	SCN5A	I1767V, I1768V, I1714V, I1735V, I1749V, I1750V	Cardiovascular phenotype, not provided, Brugada syndrome, Long QT syndrome 3	Pathogenic (Nov 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 202760031.	NM_000335.5(SCN5A):c.5295G>C (p.Met1765Ile) GRCh37: Chr3:38592565 GRCh38: Chr3:38551074	SCN5A	M1712I, M1747I, M1748I, M1766I, M1733I, M1765I	Brugada syndrome	Pathogenic (Aug 28, 2022)	criteria provided, single submitter
Select item 44641832.	NM_000335.5(SCN5A):c.5293A>T (p.Met1765Leu) GRCh37: Chr3:38592567 GRCh38: Chr3:38551076	SCN5A	M1765L, M1766L, M1747L, M1733L, M1712L, M1748L	Long QT syndrome 3	Pathogenic (Jul 7, 2017)	criteria provided, single submitter
Select item 6797433.	NM_000335.5(SCN5A):c.5284G>A (p.Val1762Met) GRCh37: Chr3:38592576 GRCh38: Chr3:38551085	SCN5A	V1762M, V1763M, V1709M, V1745M, V1730M, V1744M	not provided, SUDDEN INFANT DEATH SYNDROME, Brugada syndrome	Pathogenic (Jul 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 26529634.	NM_000335.5(SCN5A):c.5282del (p.Ile1761fs) GRCh37: Chr3:38592578 GRCh38: Chr3:38551087	SCN5A	I1729fs, I1744fs, I1708fs, I1743fs, I1761fs, I1762fs	not provided	Likely pathogenic (Aug 4, 2017)	criteria provided, single submitter
Select item 212452035.	NM_000335.5(SCN5A):c.5276_5279del (p.Phe1759fs) GRCh37: Chr3:38592581-38592584 GRCh38: Chr3:38551090-38551093	SCN5A	F1706fs, F1760fs, F1727fs, F1741fs, F1742fs, F1759fs	Brugada syndrome	Pathogenic (Apr 11, 2022)	criteria provided, single submitter
Select item 57140836.	NM_000335.5(SCN5A):c.5276T>G (p.Phe1759Cys) GRCh37: Chr3:38592584 GRCh38: Chr3:38551093	SCN5A	F1759C, F1760C, F1741C, F1742C, F1727C, F1706C	Brugada syndrome	Pathogenic (Sep 2, 2021)	criteria provided, single submitter
Select item 20153337.	NM_000335.5(SCN5A):c.5228G>T (p.Ser1743Ile) GRCh37: Chr3:38592632 GRCh38: Chr3:38551141	SCN5A	S1743I, S1744I, S1711I, S1726I, S1690I, S1725I	not provided	Likely pathogenic (Jun 3, 2014)	criteria provided, single submitter
Select item 6796838.	NM_000335.5(SCN5A):c.5225G>A (p.Gly1742Glu) GRCh37: Chr3:38592635 GRCh38: Chr3:38551144	SCN5A	G1742E, G1743E, G1724E, G1710E, G1689E, G1725E	not provided	Pathogenic/Likely pathogenic	no assertion criteria provided
Select item 6796739.	NM_000335.5(SCN5A):c.5224G>A (p.Gly1742Arg) GRCh37: Chr3:38592636 GRCh38: Chr3:38551145	SCN5A	G1742R, G1743R, G1710R, G1725R, G1689R, G1724R	Cardiovascular phenotype, Dilated cardiomyopathy 1E, Brugada syndrome 1, Sick sinus syndrome 1, Progressive familial heart block, type 1A, Ventricular fibrillation, paroxysmal familial, type 1, SUDDEN INFANT DEATH SYNDROME, Atrial fibrillation, familial, 10, Long QT syndrome 3, Brugada syndrome 1, not providedBrugada syndrome, ...see more	Pathogenic/Likely pathogenic (Mar 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 107082340.	NM_000335.5(SCN5A):c.5218del (p.Asp1740fs) GRCh37: Chr3:38592642 GRCh38: Chr3:38551151	SCN5A	D1687fs, D1708fs, D1722fs, D1723fs, D1740fs, D1741fs	Brugada syndrome	Pathogenic (Aug 25, 2021)	criteria provided, single submitter
Select item 42625441.	NM_000335.5(SCN5A):c.5187del (p.Thr1730fs) GRCh37: Chr3:38592673 GRCh38: Chr3:38551182	SCN5A	T1712fs, T1730fs, T1731fs, T1713fs, T1698fs, T1677fs	not provided	Likely pathogenic (Apr 24, 2017)	criteria provided, single submitter
Select item 6795942.	NM_000335.5(SCN5A):c.5138A>G (p.Asp1713Gly) GRCh37: Chr3:38592722 GRCh38: Chr3:38551231	SCN5A	D1713G, D1714G, D1660G, D1681G, D1696G, D1695G	not provided	Likely pathogenic (Jul 10, 2019)	criteria provided, single submitter
Select item 209428543.	NM_000335.5(SCN5A):c.5135G>A (p.Trp1712Ter) GRCh37: Chr3:38592725 GRCh38: Chr3:38551234	SCN5A	W1659, W1712, W1680, W1694, W1695, W1713	Brugada syndrome	Pathogenic (Apr 16, 2022)	criteria provided, single submitter
Select item 937944.	NM_000335.5(SCN5A):c.5128del (p.Ala1710fs) GRCh37: Chr3:38592732 GRCh38: Chr3:38551241	SCN5A	A1693fs, A1657fs, A1692fs, A1711fs, A1678fs, A1710fs	Heart block, nonprogressive	Pathogenic (Sep 1, 1999)	no assertion criteria provided
Select item 938345.	NM_000335.5(SCN5A):c.5126C>T (p.Ser1709Leu) GRCh37: Chr3:38592734 GRCh38: Chr3:38551243	SCN5A	S1710L, S1709L, S1656L, S1677L, S1691L, S1692L	Cardiac arrhythmia, Cardiovascular phenotype, Atrial fibrillation, familial, 10, Sick sinus syndrome 1, SUDDEN INFANT DEATH SYNDROME, Ventricular fibrillation, paroxysmal familial, type 1, Long QT syndrome 3, Dilated cardiomyopathy 1E, Progressive familial heart block, type 1A, Brugada syndrome 1, not providedBrugada syndrome, Brugada syndrome 1, ...see more	Pathogenic/Likely pathogenic (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 20152846.	NM_000335.5(SCN5A):c.5105G>A (p.Cys1702Tyr) GRCh37: Chr3:38592755 GRCh38: Chr3:38551264	SCN5A	C1702Y, C1703Y, C1670Y, C1649Y, C1685Y, C1684Y	not provided	Likely pathogenic (Dec 3, 2012)	criteria provided, single submitter
Select item 42661247.	NM_000335.5(SCN5A):c.5080C>T (p.Gln1694Ter) GRCh37: Chr3:38592780 GRCh38: Chr3:38551289	SCN5A	Q1694, Q1695, Q1676, Q1677, Q1641, Q1662	not provided	Likely pathogenic (Apr 11, 2017)	criteria provided, single submitter
Select item 145700648.	NM_000335.5(SCN5A):c.5074_5077dup (p.Phe1693Ter) GRCh37: Chr3:38592782-38592783 GRCh38: Chr3:38551291-38551292	SCN5A	F1676, F1693, F1694, F1675, F1640, F1661	Brugada syndrome	Pathogenic (Oct 26, 2022)	criteria provided, single submitter
Select item 20152749.	NM_000335.5(SCN5A):c.5069T>C (p.Met1690Thr) GRCh37: Chr3:38592791 GRCh38: Chr3:38551300	SCN5A	M1690T, M1691T, M1637T, M1672T, M1673T, M1658T	not provided	Likely pathogenic (Aug 29, 2014)	criteria provided, single submitter
Select item 20152650.	NM_000335.5(SCN5A):c.5024T>C (p.Met1675Thr) GRCh37: Chr3:38592836 GRCh38: Chr3:38551345	SCN5A	M1675T, M1676T, M1622T, M1643T, M1657T, M1658T	not provided	Likely pathogenic (Jun 27, 2014)	criteria provided, single submitter
Select item 20152551.	NM_000335.5(SCN5A):c.5023A>G (p.Met1675Val) GRCh37: Chr3:38592837 GRCh38: Chr3:38551346	SCN5A	M1675V, M1676V, M1622V, M1643V, M1657V, M1658V	not provided	Likely pathogenic (May 10, 2013)	criteria provided, single submitter
Select item 20152252.	NM_000335.5(SCN5A):c.4948A>G (p.Met1650Val) GRCh37: Chr3:38592912 GRCh38: Chr3:38551421	SCN5A	M1650V, M1651V, M1618V, M1633V, M1597V, M1632V	not provided	Likely pathogenic (May 13, 2013)	criteria provided, single submitter
Select item 936953.	NM_000335.5(SCN5A):c.4928G>A (p.Arg1643His) GRCh37: Chr3:38592932 GRCh38: Chr3:38551441	SCN5A	R1644H, R1643H, R1590H, R1611H, R1625H, R1626H	Cardiovascular phenotype, Long QT syndrome, not provided, Brugada syndrome, Long QT syndrome 3	Pathogenic (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 118851654.	NM_000335.5(SCN5A):c.4910G>T (p.Arg1637Leu) GRCh37: Chr3:38592950 GRCh38: Chr3:38551459	SCN5A	R1584L, R1605L, R1619L, R1620L, R1637L, R1638L	not provided, Brugada syndrome	Likely pathogenic (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 38915055.	NM_000335.5(SCN5A):c.4910G>C (p.Arg1637Pro) GRCh37: Chr3:38592950 GRCh38: Chr3:38551459	SCN5A	R1637P, R1638P, R1620P, R1619P, R1584P, R1605P	not provided	Likely pathogenic (Sep 16, 2016)	criteria provided, single submitter
Select item 52377856.	NM_000335.5(SCN5A):c.4909C>T (p.Arg1637Ter) GRCh37: Chr3:38592951 GRCh38: Chr3:38551460	SCN5A	R1637, R1638, R1605, R1619, R1584, R1620	Cardiovascular phenotype, Brugada syndrome, not provided	Pathogenic/Likely pathogenic (Aug 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 174387857.	NM_000335.5(SCN5A):c.4892G>T (p.Arg1631Leu) GRCh37: Chr3:38592968 GRCh38: Chr3:38551477	SCN5A	R1614L, R1613L, R1631L, R1578L, R1599L, R1632L	Cardiovascular phenotype	Likely pathogenic (Sep 5, 2020)	criteria provided, single submitter
Select item 24219958.	NM_000335.5(SCN5A):c.4891C>T (p.Arg1631Cys) GRCh37: Chr3:38592969 GRCh38: Chr3:38551478	SCN5A	R1631C, R1632C, R1578C, R1599C, R1614C, R1613C	Cardiovascular phenotype, Brugada syndrome, not provided	Pathogenic (Jul 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 6793759.	NM_000335.5(SCN5A):c.4883G>A (p.Arg1628Gln) GRCh37: Chr3:38592977 GRCh38: Chr3:38551486	SCN5A	R1628Q, R1629Q, R1596Q, R1575Q, R1610Q, R1611Q	Long QT syndrome 3, not provided, Brugada syndrome	Pathogenic/Likely pathogenic (Oct 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 26427660.	NM_000335.5(SCN5A):c.4882C>T (p.Arg1628Ter) GRCh37: Chr3:38592978 GRCh38: Chr3:38551487	SCN5A	R1628, R1629, R1610, R1575, R1596, R1611	Cardiovascular phenotype, not provided, Brugada syndrome 1, Brugada syndrome	Pathogenic (Mar 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 6793361.	NM_000335.5(SCN5A):c.4865G>T (p.Arg1622Leu) GRCh37: Chr3:38592995 GRCh38: Chr3:38551504	SCN5A	R1622L, R1623L, R1605L, R1569L, R1604L, R1590L	Long QT syndrome 3	Likely pathogenic (May 17, 2020)	criteria provided, single submitter
Select item 937662.	NM_000335.5(SCN5A):c.4865G>A (p.Arg1622Gln) GRCh37: Chr3:38592995 GRCh38: Chr3:38551504	SCN5A	R1623Q, R1622Q, R1569Q, R1604Q, R1605Q, R1590Q	not provided, Brugada syndrome	Pathogenic (Mar 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 937463.	NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter) GRCh37: Chr3:38592996 GRCh38: Chr3:38551505	SCN5A	R1623, R1622, R1569, R1605, R1604, R1590	Cardiac arrhythmia, Cardiovascular phenotype, Atrial fibrillation, familial, 10, Sick sinus syndrome 1, SUDDEN INFANT DEATH SYNDROME, Ventricular fibrillation, paroxysmal familial, type 1, Long QT syndrome 3, Dilated cardiomyopathy 1E, Progressive familial heart block, type 1A, Brugada syndrome 1, Familial isolated arrhythmogenic right ventricular dysplasianot provided, Brugada syndrome, ...see more	Pathogenic (Feb 17, 2023)	criteria provided, multiple submitters, no conflicts
Select item 6793264.	NM_000335.5(SCN5A):c.4856C>T (p.Thr1619Met) GRCh37: Chr3:38593004 GRCh38: Chr3:38551513	SCN5A	T1620M, T1619M, T1566M, T1587M, T1601M, T1602M	Brugada syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E, Long QT syndrome 3, Sick sinus syndrome 1, Progressive familial heart block, type 1A, SUDDEN INFANT DEATH SYNDROME, Atrial fibrillation, familial, 10, Cardiac arrhythmia, not provided, Brugada syndromeBrugada syndrome 1, ...see more	Likely pathogenic (Jun 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 6793165.	NM_000335.5(SCN5A):c.4856C>A (p.Thr1619Lys) GRCh37: Chr3:38593004 GRCh38: Chr3:38551513	SCN5A	T1619K, T1620K, T1587K, T1601K, T1566K, T1602K	Brugada syndrome	Pathogenic (Jul 19, 2022)	criteria provided, single submitter
Select item 68949466.	NM_000335.5(SCN5A):c.4853del (p.Pro1618fs) GRCh37: Chr3:38593007 GRCh38: Chr3:38551516	SCN5A	P1565fs, P1586fs, P1600fs, P1601fs, P1618fs, P1619fs	Brugada syndrome 1	Likely pathogenic (Aug 29, 2019)	criteria provided, single submitter
Select item 20157267.	NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del) GRCh37: Chr3:38593011-38593013 GRCh38: Chr3:38551520-38551522	SCN5A	F1616del, F1617del, F1584del, F1599del, F1598del, F1563del	Cardiac arrhythmia, not provided, Long QT syndrome, Sick sinus syndrome 1, Brugada syndrome 1, Atrial fibrillation, familial, 10, Dilated cardiomyopathy 1E, SUDDEN INFANT DEATH SYNDROME, Long QT syndrome 3, Progressive familial heart block, type 1A, Ventricular fibrillation, paroxysmal familial, type 1Sick sinus syndrome 1, Long QT syndrome 3, Cardiovascular phenotype, Brugada syndrome, ...see more	Pathogenic/Likely pathogenic (Aug 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21614268.	NM_000335.5(SCN5A):c.4842_4844delinsGTA (p.Tyr1614_Phe1615delinsTer) GRCh37: Chr3:38593016-38593018 GRCh38: Chr3:38551525-38551527	SCN5A		Brugada syndrome	Pathogenic (Jan 20, 2015)	criteria provided, single submitter
Select item 107615369.	NM_000335.5(SCN5A):c.4842C>G (p.Tyr1614Ter) GRCh37: Chr3:38593018 GRCh38: Chr3:38551527	SCN5A	Y1561, Y1582, Y1596, Y1597, Y1614, Y1615	Brugada syndrome	Pathogenic (Sep 24, 2020)	criteria provided, single submitter
Select item 107543770.	NM_000335.5(SCN5A):c.4837A>T (p.Lys1613Ter) GRCh37: Chr3:38593023 GRCh38: Chr3:38551532	SCN5A	K1560, K1581, K1595, K1596, K1613, K1614	Brugada syndrome	Pathogenic (Jun 9, 2022)	criteria provided, single submitter
Select item 210662671.	NM_000335.5(SCN5A):c.4836del (p.Lys1613fs) GRCh37: Chr3:38593024 GRCh38: Chr3:38551533	SCN5A	K1560fs, K1614fs, K1581fs, K1595fs, K1613fs, K1596fs	Brugada syndrome	Pathogenic (Jun 8, 2022)	criteria provided, single submitter
Select item 25415772.	NM_001160160.2(SCN5A):c.4714+95GGGT[3] GRCh37: Chr3:38595763-38595764 GRCh38: Chr3:38554272-38554273	SCN5A		Brugada syndrome 1, Brugada syndrome	Likely pathogenic (Dec 11, 2017)	criteria provided, multiple submitters, no conflicts
Select item 20159373.	NM_000335.5(SCN5A):c.4810G>C (p.Gly1604Arg) GRCh37: Chr3:38595770 GRCh38: Chr3:38554279	SCN5A	G1604R, G1605R, G1551R, G1586R, G1587R	not provided	Pathogenic (Sep 2, 2011)	criteria provided, single submitter
Select item 940674.	NM_000335.5(SCN5A):c.4780G>C (p.Asp1594His) GRCh37: Chr3:38595800 GRCh38: Chr3:38554309	SCN5A	D1595H, D1594H, D1576H, D1541H, D1577H	Long QT syndrome 3, Brugada syndrome 1, Brugada syndrome	Pathogenic/Likely pathogenic (May 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 938575.	NM_000335.5(SCN5A):c.4780G>A (p.Asp1594Asn) GRCh37: Chr3:38595800 GRCh38: Chr3:38554309	SCN5A	D1595N, D1594N, D1541N, D1577N, D1576N	not provided, Brugada syndrome, Atrial fibrillation, familial, 10	Pathogenic/Likely pathogenic (Jun 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 220333576.	NM_000335.5(SCN5A):c.4770G>A (p.Trp1590Ter) GRCh37: Chr3:38595810 GRCh38: Chr3:38554319	SCN5A	W1591, W1573, W1537, W1572, W1590*	Brugada syndrome	Pathogenic (Apr 12, 2022)	criteria provided, single submitter
Select item 21783877.	NM_000335.5(SCN5A):c.4769G>A (p.Trp1590Ter) GRCh37: Chr3:38595811 GRCh38: Chr3:38554320	SCN5A	W1590, W1591, W1537, W1572, W1573*	Brugada syndrome	Pathogenic (Jul 1, 2015)	criteria provided, single submitter
Select item 69196678.	NM_000335.5(SCN5A):c.4717G>T (p.Glu1573Ter) GRCh37: Chr3:38595863 GRCh38: Chr3:38554372	SCN5A	E1520, E1555, E1556, E1573, E1574*	Cardiac arrhythmia, Brugada syndrome 1	Pathogenic/Likely pathogenic (Jun 10, 2020)	criteria provided, multiple submitters, no conflicts
Select item 26342379.	NM_000335.5(SCN5A):c.4716C>T (p.Gly1572=) GRCh37: Chr3:38595864 GRCh38: Chr3:38554373	SCN5A		Brugada syndrome, Cardiovascular phenotype, not provided	Pathogenic/Likely pathogenic (Jul 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 83037180.	NM_000335.5(SCN5A):c.4708T>C (p.Phe1570Leu) GRCh37: Chr3:38595872 GRCh38: Chr3:38554381	SCN5A	F1517L, F1552L, F1553L, F1570L, F1571L	Brugada syndrome	Likely pathogenic (Jul 31, 2019)	no assertion criteria provided
Select item 58217781.	NM_000335.5(SCN5A):c.4654del (p.Ser1552fs) GRCh37: Chr3:38595926 GRCh38: Chr3:38554435	SCN5A	S1552fs, S1534fs, S1535fs, S1499fs, S1553fs	Brugada syndrome	Pathogenic (Feb 4, 2022)	criteria provided, single submitter
Select item 20160182.	NM_000335.5(SCN5A):c.4609_4613dup (p.Cys1538Ter) GRCh37: Chr3:38595966-38595967 GRCh38: Chr3:38554475-38554476	SCN5A	C1520, C1539, C1538, C1485, C1521*	not provided	Pathogenic (Sep 4, 2014)	criteria provided, single submitter
Select item 98743683.	NM_000335.5(SCN5A):c.4540-1G>T GRCh37: Chr3:38596041 GRCh38: Chr3:38554550	SCN5A		not provided	Likely pathogenic (Oct 23, 2020)	criteria provided, single submitter
Select item 201635984.	NM_000335.5(SCN5A):c.4538dup (p.Asn1514fs) GRCh37: Chr3:38597147-38597148 GRCh38: Chr3:38555656-38555657	SCN5A	N1496fs, N1497fs, N1461fs, N1514fs, N1515fs	Brugada syndrome	Pathogenic (Jul 12, 2022)	criteria provided, single submitter
Select item 20157185.	NM_000335.5(SCN5A):c.4516_4524del (p.Gln1506_Pro1508del) GRCh37: Chr3:38597162-38597170 GRCh38: Chr3:38555671-38555679	SCN5A		Cardiovascular phenotype, not provided, Brugada syndrome	Pathogenic (Jun 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 6790686.	NM_000335.5(SCN5A):c.4504T>C (p.Ser1502Pro) GRCh37: Chr3:38597182 GRCh38: Chr3:38555691	SCN5A	S1502P, S1503P, S1485P, S1484P, S1449P	Cardiovascular phenotype	Likely pathogenic (Jan 31, 2020)	criteria provided, single submitter
Select item 144965487.	NM_000335.5(SCN5A):c.4492AAG[1] (p.Lys1499del) GRCh37: Chr3:38597189-38597191 GRCh38: Chr3:38555698-38555700	SCN5A	K1499del, K1446del, K1482del, K1481del, K1500del	Brugada syndrome	Pathogenic (Dec 23, 2021)	criteria provided, single submitter
Select item 22281488.	NM_000335.5(SCN5A):c.4471AAG[1] (p.Lys1492del) GRCh37: Chr3:38597210-38597212 GRCh38: Chr3:38555719-38555721	SCN5A	K1492del, K1493del, K1439del, K1475del, K1474del	Brugada syndrome	Likely pathogenic (Jul 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 20160089.	NM_000335.5(SCN5A):c.4469del (p.Gln1490fs) GRCh37: Chr3:38597217 GRCh38: Chr3:38555726	SCN5A	Q1473fs, Q1490fs, Q1491fs, Q1437fs, Q1472fs	not provided	Pathogenic (Oct 14, 2022)	criteria provided, single submitter
Select item 56069290.	NM_000335.5(SCN5A):c.4468C>T (p.Gln1490Ter) GRCh37: Chr3:38597218 GRCh38: Chr3:38555727	SCN5A	Q1490, Q1491, Q1473, Q1472, Q1437*	Brugada syndrome 1	Pathogenic (Jan 4, 2018)	criteria provided, single submitter
Select item 63799191.	NM_000335.5(SCN5A):c.4460C>A (p.Thr1487Lys) GRCh37: Chr3:38597226 GRCh38: Chr3:38555735	SCN5A	T1487K, T1488K, T1469K, T1470K, T1434K	Long QT syndrome 3	Likely pathogenic (Jan 23, 2019)	criteria provided, single submitter
Select item 20151792.	NM_000335.5(SCN5A):c.4450A>G (p.Ile1484Val) GRCh37: Chr3:38597236 GRCh38: Chr3:38555745	SCN5A	I1484V, I1485V, I1466V, I1431V, I1467V	Brugada syndrome	Pathogenic (May 6, 2022)	criteria provided, single submitter
Select item 211478593.	NM_000335.5(SCN5A):c.4429A>T (p.Lys1477Ter) GRCh37: Chr3:38597937 GRCh38: Chr3:38556446	SCN5A	K1477, K1478, K1424, K1459, K1460*	Brugada syndrome	Pathogenic (Aug 13, 2022)	criteria provided, single submitter
Select item 143481794.	NM_000335.5(SCN5A):c.4420_4423del (p.Gln1474fs) GRCh37: Chr3:38597943-38597946 GRCh38: Chr3:38556452-38556455	SCN5A	Q1474fs, Q1421fs, Q1475fs, Q1457fs, Q1456fs	Brugada syndrome	Pathogenic (Nov 18, 2020)	criteria provided, single submitter
Select item 20151695.	NM_000335.5(SCN5A):c.4421A>T (p.Gln1474Leu) GRCh37: Chr3:38597945 GRCh38: Chr3:38556454	SCN5A	Q1474L, Q1475L, Q1421L, Q1456L, Q1457L	not provided	Likely pathogenic (Apr 24, 2014)	criteria provided, single submitter
Select item 26403996.	NM_000335.5(SCN5A):c.4420del (p.Gln1474fs) GRCh37: Chr3:38597946 GRCh38: Chr3:38556455	SCN5A	Q1474fs, Q1456fs, Q1457fs, Q1475fs, Q1421fs	Cardiovascular phenotype	Pathogenic (May 15, 2015)	criteria provided, single submitter
Select item 38929797.	NM_000335.5(SCN5A):c.4414T>C (p.Phe1472Leu) GRCh37: Chr3:38597952 GRCh38: Chr3:38556461	SCN5A	F1472L, F1473L, F1454L, F1455L, F1419L	not provided	Likely pathogenic (Sep 13, 2016)	criteria provided, single submitter
Select item 51942998.	NM_000335.5(SCN5A):c.4381del (p.Thr1460_Leu1461insTer) GRCh37: Chr3:38597985 GRCh38: Chr3:38556494	SCN5A		Cardiovascular phenotype	Pathogenic (Mar 2, 2022)	criteria provided, single submitter
Select item 145187899.	NM_000335.5(SCN5A):c.4373del (p.Phe1458fs) GRCh37: Chr3:38597993 GRCh38: Chr3:38556502	SCN5A	F1405fs, F1459fs, F1458fs, F1440fs, F1441fs	Brugada syndrome	Pathogenic (Feb 4, 2021)	criteria provided, single submitter
Select item 67887100.	NM_000335.5(SCN5A):c.4370C>A (p.Ser1457Tyr) GRCh37: Chr3:38597996 GRCh38: Chr3:38556505	SCN5A	S1457Y, S1458Y, S1439Y, S1404Y, S1440Y	not provided	Pathogenic (Oct 19, 2012)	criteria provided, single submitter

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