SCN5A[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 145586	GRCh38/hg38 3p22.3-22.1(chr3:33728406-40662451)x3	ACAA1, ACVR2B +176 more	Copy number gain	See cases	GPathogenic
Select item 665052	NC_000003.12:g.(?_37452365)_(38950372_?)del	CTDSPL, DLEC1 +51 more	Deletion	Brugada syndrome	GPathogenic
Select item 656834	NC_000003.11:g.(?_38518768)_(38674808_?)dup	LOC110121286, LOC110121287 +6 more	Duplication	Brugada syndrome	GUncertain significance
Select item 417377	NC_000003.11:g.(?_38589553)_(38674850_?)dup	LOC110121269, SCN5A	Duplication	Brugada syndrome	GUncertain significance
Select item 417376	NC_000003.12:g.(?_38548062)_(38551558_?)del	SCN5A	Deletion	Brugada syndrome	GLikely pathogenic
Select item 345060	NM_000335.5(SCN5A):c.*2149G>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Paroxysmal familial ventricular fibrillation +6 more	GUncertain significance
Select item 345061	NM_000335.5(SCN5A):c.2139_2145AGG[2]GGAGAAGAGAGTAGGAAAAAGGAGGG[1]	SCN5A	Insertion (3 prime UTR variant)	Paroxysmal familial ventricular fibrillation +6 more	GLikely benign
Select item 345062	NM_000335.5(SCN5A):c.*2135C>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Progressive familial heart block, type 1A +6 more	GUncertain significance
Select item 902319	NM_000335.5(SCN5A):c.*2007G>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 3 +5 more	GUncertain significance
Select item 345063	NM_000335.5(SCN5A):c.*1969C>T	SCN5A	Single nucleotide variant (3 prime UTR variant)	Brugada syndrome +6 more	GUncertain significance
Select item 345064	NM_000335.5(SCN5A):c.*1943C>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Paroxysmal familial ventricular fibrillation +6 more	GUncertain significance
Select item 345065	NM_000335.5(SCN5A):c.*1932C>T	SCN5A	Single nucleotide variant (3 prime UTR variant)	Ventricular fibrillation, paroxysmal familial, type 1 +6 more	GUncertain significance
Select item 899570	NM_000335.5(SCN5A):c.*1884G>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Progressive familial heart block, type 1A +5 more	GBenign/Likely benign
Select item 899571	NM_000335.5(SCN5A):c.*1843T>G	SCN5A	Single nucleotide variant (3 prime UTR variant)	Brugada syndrome 1 +5 more	GUncertain significance
Select item 345066	NM_000335.5(SCN5A):c.*1836A>T	SCN5A	Single nucleotide variant (3 prime UTR variant)	Paroxysmal familial ventricular fibrillation +6 more	GUncertain significance
Select item 900711	NM_000335.5(SCN5A):c.*1820C>G	SCN5A	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 3 +5 more	GConflicting classifications of pathogenicity
Select item 902395	NM_000335.5(SCN5A):c.*1802G>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1E +5 more	GUncertain significance
Select item 345067	NM_000335.5(SCN5A):c.*1744C>G	SCN5A	Single nucleotide variant (3 prime UTR variant)	Paroxysmal familial ventricular fibrillation +6 more	GUncertain significance
Select item 903251	NM_000335.5(SCN5A):c.*1743G>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1E +5 more	GUncertain significance
Select item 345068	NM_000335.5(SCN5A):c.*1731G>C	SCN5A	Single nucleotide variant (3 prime UTR variant)	Brugada syndrome +6 more	GUncertain significance
Select item 345069	NM_000335.5(SCN5A):c.*1705C>T	SCN5A	Single nucleotide variant (3 prime UTR variant)	Paroxysmal familial ventricular fibrillation +6 more	GUncertain significance
Select item 345070	NM_000335.5(SCN5A):c.*1701G>T	SCN5A	Single nucleotide variant (3 prime UTR variant)	Paroxysmal familial ventricular fibrillation +6 more	GUncertain significance
Select item 345071	NM_000335.5(SCN5A):c.*1691G>T	SCN5A	Single nucleotide variant (3 prime UTR variant)	Paroxysmal familial ventricular fibrillation +6 more	GUncertain significance
Select item 345072	NM_000335.5(SCN5A):c.*1673C>T	SCN5A	Single nucleotide variant (3 prime UTR variant)	Paroxysmal familial ventricular fibrillation +6 more	GUncertain significance
Select item 345073	NM_000335.5(SCN5A):c.*1602G>T	SCN5A	Single nucleotide variant (3 prime UTR variant)	Paroxysmal familial ventricular fibrillation +6 more	GUncertain significance
Select item 345074	NM_000335.5(SCN5A):c.*1568G>C	SCN5A	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1E +6 more	GUncertain significance
Select item 899646	NM_000335.5(SCN5A):c.*1555C>T	SCN5A	Single nucleotide variant (3 prime UTR variant)	Brugada syndrome 1 +5 more	GUncertain significance
Select item 345075	NM_000335.5(SCN5A):c.*1537T>C	SCN5A	Single nucleotide variant (3 prime UTR variant)	Congenital long QT syndrome +7 more	GBenign/Likely benign
Select item 345076	NM_000335.5(SCN5A):c.*1496T>G	SCN5A	Single nucleotide variant (3 prime UTR variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 345077	NM_000335.5(SCN5A):c.*1453dup	SCN5A	Duplication (3 prime UTR variant)	Paroxysmal familial ventricular fibrillation +7 more	GBenign/Likely benign
Select item 345078	NM_000335.5(SCN5A):c.*1443C>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Paroxysmal familial ventricular fibrillation +6 more	GUncertain significance
Select item 902458	NM_000335.5(SCN5A):c.*1414G>C	SCN5A	Single nucleotide variant (3 prime UTR variant)	Brugada syndrome 1 +5 more	GConflicting classifications of pathogenicity
Select item 345079	NM_000335.5(SCN5A):c.*1390A>G	SCN5A	Single nucleotide variant (3 prime UTR variant)	Progressive familial heart block, type 1A +6 more	GConflicting classifications of pathogenicity
Select item 899715	NM_000335.5(SCN5A):c.*1284G>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1E +5 more	GBenign/Likely benign
Select item 900861	NM_000335.5(SCN5A):c.*1201C>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Brugada syndrome 1 +5 more	GUncertain significance
Select item 900862	NM_000335.5(SCN5A):c.*1166G>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1E +5 more	GUncertain significance
Select item 345080	NM_000335.5(SCN5A):c.*1165C>T	SCN5A	Single nucleotide variant (3 prime UTR variant)	not provided +7 more	GBenign/Likely benign
Select item 345081	NM_000335.5(SCN5A):c.*1164G>T	SCN5A	Single nucleotide variant (3 prime UTR variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 899776	NM_000335.5(SCN5A):c.*1151G>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1E +5 more	GUncertain significance
Select item 345082	NM_000335.5(SCN5A):c.*1087G>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Ventricular fibrillation, paroxysmal familial, type 1 +6 more	GUncertain significance
Select item 345083	NM_000335.5(SCN5A):c.*1074C>G	SCN5A	Single nucleotide variant (3 prime UTR variant)	Progressive familial heart block, type 1A +6 more	GUncertain significance
Select item 902600	NM_000335.5(SCN5A):c.*1060G>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Brugada syndrome 1 +5 more	GUncertain significance
Select item 903445	NM_000335.5(SCN5A):c.*1058G>T	SCN5A	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1E +5 more	GUncertain significance
Select item 345084	NM_000335.5(SCN5A):c.*1048G>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Ventricular fibrillation, paroxysmal familial, type 1 +6 more	GUncertain significance
Select item 345085	NM_000335.5(SCN5A):c.*990T>C	SCN5A	Single nucleotide variant (3 prime UTR variant)	Ventricular fibrillation, paroxysmal familial, type 1 +6 more	GUncertain significance
Select item 345086	NM_000335.5(SCN5A):c.*980C>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Paroxysmal familial ventricular fibrillation +6 more	GUncertain significance
Select item 345087	NM_000335.5(SCN5A):c.*963C>T	SCN5A	Single nucleotide variant (3 prime UTR variant)	Congenital long QT syndrome +7 more	GBenign/Likely benign
Select item 345088	NM_000335.5(SCN5A):c.*962T>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Congenital long QT syndrome +7 more	GBenign/Likely benign
Select item 345089	NM_000335.5(SCN5A):c.*945C>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Paroxysmal familial ventricular fibrillation +6 more	GUncertain significance
Select item 345090	NM_000335.5(SCN5A):c.*920G>C	SCN5A	Single nucleotide variant (3 prime UTR variant)	Progressive familial heart block, type 1A +6 more	GConflicting classifications of pathogenicity
Select item 345091	NM_000335.5(SCN5A):c.*889C>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Progressive familial heart block, type 1A +6 more	GConflicting classifications of pathogenicity
Select item 345092	NM_000335.5(SCN5A):c.*753C>T	SCN5A	Single nucleotide variant (3 prime UTR variant)	Congenital long QT syndrome +7 more	GBenign/Likely benign
Select item 345093	NM_000335.5(SCN5A):c.*747G>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Ventricular fibrillation, paroxysmal familial, type 1 +6 more	GUncertain significance
Select item 345094	NM_000335.5(SCN5A):c.*725C>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Paroxysmal familial ventricular fibrillation +6 more	GUncertain significance
Select item 345095	NM_000335.5(SCN5A):c.*705C>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Ventricular fibrillation, paroxysmal familial, type 1 +6 more	GUncertain significance
Select item 900166	NM_000335.5(SCN5A):c.*688C>T	SCN5A	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1E +5 more	GUncertain significance
Select item 345096	NM_000335.5(SCN5A):c.*677G>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Progressive familial heart block, type 1A +6 more	GConflicting classifications of pathogenicity
Select item 345097	NM_000335.5(SCN5A):c.*663C>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Congenital long QT syndrome +6 more	GUncertain significance
Select item 901879	NM_000335.5(SCN5A):c.*662C>T	SCN5A	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1E +5 more	GUncertain significance
Select item 902779	NM_000335.5(SCN5A):c.*659C>T	SCN5A	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1E +5 more	GUncertain significance
Select item 345098	NM_000335.5(SCN5A):c.*634C>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Paroxysmal familial ventricular fibrillation +6 more	GUncertain significance
Select item 900232	NM_000335.5(SCN5A):c.*614G>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1E +6 more	GBenign/Likely benign
Select item 900233	NM_000335.5(SCN5A):c.*587C>T	SCN5A	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1E +5 more	GUncertain significance
Select item 345099	NM_000335.5(SCN5A):c.*516G>T	SCN5A	Single nucleotide variant (3 prime UTR variant)	Paroxysmal familial ventricular fibrillation +6 more	GUncertain significance
Select item 345100	NM_000335.5(SCN5A):c.*486C>T	SCN5A	Single nucleotide variant (3 prime UTR variant)	Congenital long QT syndrome +6 more	GUncertain significance
Select item 901941	NM_000335.5(SCN5A):c.*475T>C	SCN5A	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1E +5 more	GUncertain significance
Select item 345101	NM_000335.5(SCN5A):c.*382T>C	SCN5A	Single nucleotide variant (3 prime UTR variant)	Sick sinus syndrome 1 +8 more	GUncertain significance
Select item 345102	NM_000335.5(SCN5A):c.*331T>C	SCN5A	Single nucleotide variant (3 prime UTR variant)	Congenital long QT syndrome +6 more	GUncertain significance
Select item 345103	NM_000335.5(SCN5A):c.*296G>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Paroxysmal familial ventricular fibrillation +6 more	GUncertain significance
Select item 345104	NM_000335.5(SCN5A):c.*290G>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Congenital long QT syndrome +6 more	GUncertain significance
Select item 345105	NM_000335.5(SCN5A):c.*204T>C	SCN5A	Single nucleotide variant (3 prime UTR variant)	Progressive familial heart block, type 1A +8 more	GUncertain significance
Select item 345106	NM_000335.5(SCN5A):c.*160G>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Congenital long QT syndrome +6 more	GUncertain significance
Select item 345107	NM_000335.5(SCN5A):c.*159C>T	SCN5A	Single nucleotide variant (3 prime UTR variant)	not provided +7 more	GBenign/Likely benign
Select item 900347	NM_000335.5(SCN5A):c.*131G>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1E +5 more	GUncertain significance
Select item 345108	NM_000335.5(SCN5A):c.*123A>G	SCN5A	Single nucleotide variant (3 prime UTR variant)	not provided +7 more	GBenign/Likely benign
Select item 345109	NM_000335.5(SCN5A):c.*73C>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Paroxysmal familial ventricular fibrillation +6 more	GUncertain significance
Select item 2774429	NM_000335.5(SCN5A):c.6026_*24del (p.Arg2009fs)	SCN5A (R1992fs +5 more)	Deletion (frameshift variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 532176	NC_000003.12:g.(?_38550301)_(38794030_?)del	LOC110121269, LOC110121288 +3 more	Deletion	Brugada syndrome	GPathogenic
Select item 922754	NM_000335.5(SCN5A):c.*6G>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 345110	NM_000335.5(SCN5A):c.*6G>T	SCN5A	Single nucleotide variant (3 prime UTR variant)	Paroxysmal familial ventricular fibrillation +6 more	GUncertain significance
Select item 1186550	NM_000335.5(SCN5A):c.*5C>T	SCN5A	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 925343	NM_000335.5(SCN5A):c.*1G>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1377908	NM_000335.5(SCN5A):c.6047G>T (p.Ter2016Leu)	SCN5A	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 1171616	NM_000335.5(SCN5A):c.6047G>A (p.Ter2016=)	SCN5A	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +1 more	GConflicting classifications of pathogenicity
Select item 2003748	NM_000335.5(SCN5A):c.6044dup (p.Ter2016ValextTer?)	SCN5A	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 403733	NM_000335.5(SCN5A):c.6045G>A (p.Val2015=)	SCN5A	Single nucleotide variant (synonymous variant)	Familial isolated arrhythmogenic right ventricular dysplasia	GPathogenic
Select item 2506123	NM_000335.5(SCN5A):c.6044T>A (p.Val2015Glu)	SCN5A (V1962E +5 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 201549	NM_000335.5(SCN5A):c.6043G>A (p.Val2015Met)	SCN5A (V2015M +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 1549247	NM_000335.5(SCN5A):c.6042C>T (p.Ile2014=)	SCN5A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 3069377	NM_000335.5(SCN5A):c.6039C>T (p.Ser2013=)	SCN5A	Single nucleotide variant (synonymous variant +1 more)	Cardiac arrhythmia	GLikely benign
Select item 3072566	NM_000335.5(SCN5A):c.6038C>G (p.Ser2013Cys)	SCN5A (S1960C +5 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 2800181	NM_000335.5(SCN5A):c.6035A>G (p.Glu2012Gly)	SCN5A (E1995G +5 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1000998	NM_000335.5(SCN5A):c.6032G>A (p.Arg2011His)	SCN5A (R1958H +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 68027	NM_000335.5(SCN5A):c.6031C>T (p.Arg2011Cys)	SCN5A (R2011C +5 more)	Single nucleotide variant (missense variant)	not provided +10 more	GUncertain significance
Select item 345111	NM_000335.5(SCN5A):c.6030C>A (p.Asp2010Glu)	SCN5A (D2011E +5 more)	Single nucleotide variant (missense variant)	Paroxysmal familial ventricular fibrillation +6 more	GUncertain significance
Select item 3074936	NM_000335.5(SCN5A):c.6029A>G (p.Asp2010Gly)	SCN5A (D1957G +5 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 1435625	NM_000335.5(SCN5A):c.6027G>T (p.Arg2009Ser)	SCN5A (R1977S +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 382186	NM_000335.5(SCN5A):c.6027G>A (p.Arg2009=)	SCN5A	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign

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