"Clinical Genetics, Academic Medical Center"[submitter] AND "SCN5A"[ge - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 68027	NM_000335.5(SCN5A):c.6031C>T (p.Arg2011Cys)	SCN5A (R2011C +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome 3 +10 more	GUncertain significance
Select item 379004	NM_000335.5(SCN5A):c.6003C>T (p.Ala2001=)	SCN5A	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 30045	NM_000335.5(SCN5A):c.5958C>A (p.Asn1986Lys)	SCN5A (N1986K +5 more)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 48314	NM_000335.5(SCN5A):c.5946C>T (p.Ala1982=)	SCN5A	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 36765	NM_000335.5(SCN5A):c.5848G>T (p.Val1950Leu)	SCN5A (V1950L +5 more)	Single nucleotide variant (missense variant)	not specified +13 more	GBenign/Likely benign
Select item 48311	NM_000335.5(SCN5A):c.5841C>T (p.Ile1947=)	SCN5A	Single nucleotide variant (synonymous variant)	Sick sinus syndrome 1 +11 more	GBenign/Likely benign
Select item 518750	NM_000335.5(SCN5A):c.5689C>T (p.Arg1897Cys)	SCN5A (R1897C +5 more)	Single nucleotide variant (missense variant)	not provided +10 more	GUncertain significance
Select item 923312	NM_000335.5(SCN5A):c.5664C>T (p.Tyr1888=)	SCN5A	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +2 more	GBenign/Likely benign
Select item 39445	NM_000335.5(SCN5A):c.5504T>C (p.Ile1835Thr)	SCN5A (I1835T +5 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 48308	NM_000335.5(SCN5A):c.5491C>G (p.Gln1831Glu)	SCN5A (Q1831E +5 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 48307	NM_000335.5(SCN5A):c.5454T>C (p.Asp1818=)	SCN5A	Single nucleotide variant (synonymous variant)	Progressive familial heart block, type 1A +10 more	GBenign/Likely benign
Select item 196147	NM_000335.5(SCN5A):c.5433G>A (p.Ser1811=)	SCN5A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 9382	NM_000335.5(SCN5A):c.5382_5384dup (p.Tyr1794_Glu1795insAsp)	SCN5A	Duplication (inframe_insertion)	not provided +2 more	GPathogenic
Select item 9377	NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys)	SCN5A (E1784K +5 more)	Single nucleotide variant (missense variant)	Congenital long QT syndrome +7 more	GPathogenic/Likely pathogenic
Select item 67985	NM_000335.5(SCN5A):c.5333C>T (p.Thr1778Met)	SCN5A (T1778M +5 more)	Single nucleotide variant (missense variant)	Progressive familial heart block, type 1A +9 more	GConflicting classifications of pathogenicity
Select item 1284621	NM_000335.5(SCN5A):c.5258C>T (p.Thr1753Ile)	SCN5A (T1700I +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 67968	NM_000335.5(SCN5A):c.5225G>A (p.Gly1742Glu)	SCN5A (G1742E +5 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 178128	NM_000335.5(SCN5A):c.5199C>T (p.Asn1733=)	SCN5A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 67947	NM_000335.5(SCN5A):c.4975A>G (p.Ile1659Val)	SCN5A (I1659V +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1E +3 more	GConflicting classifications of pathogenicity
Select item 48304	NM_000335.5(SCN5A):c.4845C>T (p.Phe1615=)	SCN5A	Single nucleotide variant (synonymous variant)	not specified +10 more	GBenign/Likely benign
Select item 67924	NM_000335.5(SCN5A):c.4783T>A (p.Phe1595Ile)	SCN5A (F1595I +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +13 more	GConflicting classifications of pathogenicity
Select item 567718	NM_000335.5(SCN5A):c.4625T>C (p.Val1542Ala)	SCN5A (V1542A +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 413930	NM_000335.5(SCN5A):c.4590C>T (p.Asp1530=)	SCN5A	Single nucleotide variant (synonymous variant)	Brugada syndrome +2 more	GLikely benign
Select item 36763	NM_000335.5(SCN5A):c.4506C>T (p.Ser1502=)	SCN5A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +10 more	GConflicting classifications of pathogenicity
Select item 36762	NM_000335.5(SCN5A):c.4434+13C>T	SCN5A	Single nucleotide variant (intron variant)	Sick sinus syndrome 1 +8 more	GConflicting classifications of pathogenicity
Select item 165139	NM_000335.5(SCN5A):c.4297-14T>C	SCN5A	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1E +8 more	GConflicting classifications of pathogenicity
Select item 36761	NM_000335.5(SCN5A):c.4215G>A (p.Gly1405=)	SCN5A	Single nucleotide variant (synonymous variant)	not specified +10 more	GConflicting classifications of pathogenicity
Select item 629563	NM_000335.5(SCN5A):c.4071G>A (p.Gly1357=)	SCN5A	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +1 more	GBenign/Likely benign
Select item 901564	NM_000335.5(SCN5A):c.3993G>A (p.Pro1331=)	SCN5A	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +8 more	GConflicting classifications of pathogenicity
Select item 67838	NM_000335.5(SCN5A):c.3953G>T (p.Gly1318Val)	SCN5A (G1318V +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 3 +12 more	GPathogenic/Likely pathogenic
Select item 139061	NM_000335.5(SCN5A):c.3870G>A (p.Leu1290=)	SCN5A	Single nucleotide variant (synonymous variant)	not specified +10 more	GConflicting classifications of pathogenicity
Select item 917653	NM_000335.5(SCN5A):c.3837+17G>A	SCN5A	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 67829	NM_000335.5(SCN5A):c.3832G>A (p.Val1278Ile)	SCN5A (V1278I +2 more)	Single nucleotide variant (missense variant)	not provided +11 more	GUncertain significance
Select item 9401	NM_000335.5(SCN5A):c.3820G>A (p.Asp1274Asn)	SCN5A (D1275N +2 more)	Single nucleotide variant (missense variant)	SCN5A-related disorder +5 more	GPathogenic
Select item 789369	NM_000335.5(SCN5A):c.3765C>T (p.Leu1255=)	SCN5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 67824	NM_000335.5(SCN5A):c.3748G>A (p.Val1250Met)	SCN5A (V1250M +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 36760	NM_000335.5(SCN5A):c.3508+10C>T	SCN5A	Single nucleotide variant (intron variant)	not specified +8 more	GBenign/Likely benign
Select item 165142	NM_000335.5(SCN5A):c.3408C>T (p.Ser1136=)	SCN5A	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +2 more	GLikely benign
Select item 201494	NM_000335.5(SCN5A):c.3401G>T (p.Ser1134Ile)	SCN5A (S1134I +2 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +4 more	GUncertain significance
Select item 378545	NM_000335.5(SCN5A):c.3388-3T>C	SCN5A	Single nucleotide variant (intron variant)	Cardiac arrhythmia +3 more	GConflicting classifications of pathogenicity
Select item 345119	NM_000335.5(SCN5A):c.3381C>T (p.Cys1127=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant +1 more)	Congenital long QT syndrome +10 more	GConflicting classifications of pathogenicity
Select item 1002391	NM_000335.5(SCN5A):c.3370G>T (p.Ala1124Ser)	LOC110121269, SCN5A (A1124S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 48300	NM_000335.5(SCN5A):c.3360G>A (p.Ala1120=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant +1 more)	Cardiomyopathy +12 more	GConflicting classifications of pathogenicity
Select item 48298	NM_000335.5(SCN5A):c.3266C>T (p.Pro1089Leu)	LOC110121269, SCN5A (P1089L +1 more)	Single nucleotide variant (missense variant +1 more)	Sick sinus syndrome 1 +13 more	GBenign/Likely benign
Select item 48297	NM_000335.5(SCN5A):c.3183A>G (p.Glu1061=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant)	Sick sinus syndrome 1 +10 more	GBenign/Likely benign
Select item 9400	NM_000335.5(SCN5A):c.3157G>A (p.Glu1053Lys)	LOC110121269, SCN5A (E1053K)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 565598	NM_000335.5(SCN5A):c.3148G>A (p.Ala1050Thr)	LOC110121269, SCN5A (A1050T)	Single nucleotide variant (missense variant)	not provided +10 more	GConflicting classifications of pathogenicity
Select item 520458	NM_000335.5(SCN5A):c.3080G>A (p.Arg1027Gln)	LOC110121269, SCN5A (R1027Q)	Single nucleotide variant (missense variant)	Brugada syndrome 1 +11 more	GConflicting classifications of pathogenicity
Select item 201486	NM_000335.5(SCN5A):c.2962C>T (p.Arg988Trp)	LOC110121269, SCN5A (R988W)	Single nucleotide variant (missense variant)	Long QT syndrome 3 +9 more	GUncertain significance
Select item 67769	NM_000335.5(SCN5A):c.2944T>C (p.Cys982Arg)	LOC110121269, SCN5A (C982R)	Single nucleotide variant (missense variant)	Sick sinus syndrome 1 +12 more	GConflicting classifications of pathogenicity
Select item 201483	NM_000335.5(SCN5A):c.2924G>A (p.Arg975Gln)	LOC110121269, SCN5A (R975Q)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +10 more	GUncertain significance
Select item 67763	NM_000335.5(SCN5A):c.2893C>T (p.Arg965Cys)	LOC110121269, SCN5A (R965C)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 48296	NM_000335.5(SCN5A):c.2788-6C>T	LOC110121269, SCN5A	Single nucleotide variant (intron variant)	Progressive familial heart block, type 1A +9 more	GBenign/Likely benign
Select item 1284730	NM_000335.5(SCN5A):c.2787+19AC[13]	SCN5A	Microsatellite (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1284694	NM_000335.5(SCN5A):c.2787+19AC[12]	SCN5A	Microsatellite (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 201561	NM_000335.5(SCN5A):c.2582_2583del (p.Phe861fs)	SCN5A (F861fs)	Deletion (frameshift variant)	Brugada syndrome +3 more	GPathogenic
Select item 139054	NM_000335.5(SCN5A):c.2437-5C>A	SCN5A	Single nucleotide variant (intron variant)	not provided +11 more	GConflicting classifications of pathogenicity
Select item 165150	NM_000335.5(SCN5A):c.2437-13C>T	SCN5A	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1E +8 more	GConflicting classifications of pathogenicity
Select item 36758	NM_000335.5(SCN5A):c.2436+12G>A	SCN5A	Single nucleotide variant (intron variant)	Sick sinus syndrome 1 +8 more	GConflicting classifications of pathogenicity
Select item 1285130	NM_000335.5(SCN5A):c.2320del (p.Tyr774fs)	SCN5A (Y774fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 257439	NM_000335.5(SCN5A):c.2263-18T>C	SCN5A	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 227927	NM_000335.5(SCN5A):c.2103G>A (p.Pro701=)	SCN5A	Single nucleotide variant (synonymous variant)	Cardiomyopathy +5 more	GBenign/Likely benign
Select item 67706	NM_000335.5(SCN5A):c.2039G>A (p.Arg680His)	SCN5A (R680H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 201467	NM_000335.5(SCN5A):c.1993G>T (p.Ala665Ser)	SCN5A (A665S)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +2 more	GConflicting classifications of pathogenicity
Select item 178133	NM_000335.5(SCN5A):c.1890+14G>A	SCN5A	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1E +7 more	GConflicting classifications of pathogenicity
Select item 67691	NM_000335.5(SCN5A):c.1844G>A (p.Gly615Glu)	SCN5A (G615E)	Single nucleotide variant (missense variant)	Long QT syndrome 3 +6 more	GConflicting classifications of pathogenicity
Select item 201417	NM_000335.5(SCN5A):c.1842A>G (p.Pro614=)	SCN5A	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +3 more	GBenign/Likely benign
Select item 201461	NM_000335.5(SCN5A):c.1820G>T (p.Gly607Val)	SCN5A (G607V)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +10 more	GUncertain significance
Select item 67687	NM_000335.5(SCN5A):c.1756G>A (p.Ala586Thr)	SCN5A (A586T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 139052	NM_000335.5(SCN5A):c.1755C>T (p.His585=)	SCN5A	Single nucleotide variant (synonymous variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 139051	NM_000335.5(SCN5A):c.1743G>A (p.Ser581=)	SCN5A	Single nucleotide variant (synonymous variant)	not specified +12 more	GConflicting classifications of pathogenicity
Select item 67686	NM_000335.5(SCN5A):c.1735G>A (p.Gly579Arg)	SCN5A (G579R)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1299930	NM_000335.5(SCN5A):c.1734C>A (p.Pro578=)	SCN5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 924828	NM_000335.5(SCN5A):c.1716C>T (p.Ala572=)	SCN5A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 67683	NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp)	SCN5A (A572D)	Single nucleotide variant (missense variant)	Sick sinus syndrome 1 +13 more	GBenign/Likely benign
Select item 48290	NM_000335.5(SCN5A):c.1681C>T (p.Leu561=)	SCN5A	Single nucleotide variant (synonymous variant)	not specified +11 more	GConflicting classifications of pathogenicity
Select item 48289	NM_000335.5(SCN5A):c.1673A>G (p.His558Arg)	SCN5A (H558R)	Single nucleotide variant (missense variant)	Sick sinus syndrome 1 +13 more	GBenign/Likely benign
Select item 67676	NM_000335.5(SCN5A):c.1663G>A (p.Glu555Lys)	SCN5A (E555K)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 48287	NM_000335.5(SCN5A):c.1587T>C (p.Ile529=)	SCN5A	Single nucleotide variant (synonymous variant)	Progressive familial heart block, type 1A +10 more	GBenign/Likely benign
Select item 165155	NM_000335.5(SCN5A):c.1569T>A (p.Arg523=)	SCN5A	Single nucleotide variant (synonymous variant)	Brugada syndrome +10 more	GConflicting classifications of pathogenicity
Select item 48284	NM_000335.5(SCN5A):c.1441C>T (p.Arg481Trp)	SCN5A (R481W)	Single nucleotide variant (missense variant)	Progressive familial heart block, type 1A +10 more	GConflicting classifications of pathogenicity
Select item 67659	NM_000335.5(SCN5A):c.1381T>G (p.Leu461Val)	SCN5A (L461V)	Single nucleotide variant (missense variant)	Progressive familial heart block, type 1A +12 more	GBenign/Likely benign
Select item 1270940	NM_000335.5(SCN5A):c.1338+20G>A	SCN5A	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1136351	NM_000335.5(SCN5A):c.1308G>A (p.Glu436=)	SCN5A	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 48282	NM_000335.5(SCN5A):c.1302C>T (p.Phe434=)	SCN5A	Single nucleotide variant (synonymous variant)	Progressive familial heart block, type 1A +11 more	GBenign/Likely benign
Select item 139049	NM_000335.5(SCN5A):c.1281C>T (p.Thr427=)	SCN5A	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 139048	NM_000335.5(SCN5A):c.1236C>T (p.Val412=)	SCN5A	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 67651	NM_000335.5(SCN5A):c.1231G>A (p.Val411Met)	SCN5A (V411M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GPathogenic
Select item 139047	NM_000335.5(SCN5A):c.1152C>T (p.Ser384=)	SCN5A	Single nucleotide variant (synonymous variant)	Ventricular fibrillation, paroxysmal familial, type 1 +9 more	GConflicting classifications of pathogenicity
Select item 48280	NM_000335.5(SCN5A):c.1141-3C>A	SCN5A	Single nucleotide variant (intron variant)	Sick sinus syndrome 1 +10 more	GBenign/Likely benign
Select item 165156	NM_000335.5(SCN5A):c.1068T>C (p.Asp356=)	SCN5A	Single nucleotide variant (synonymous variant)	Brugada syndrome +10 more	GConflicting classifications of pathogenicity
Select item 139045	NM_000335.5(SCN5A):c.1050C>T (p.His350=)	SCN5A	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 139044	NM_000335.5(SCN5A):c.1044C>T (p.Pro348=)	SCN5A	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1E +10 more	GConflicting classifications of pathogenicity
Select item 227057	NM_000335.5(SCN5A):c.1017C>T (p.Tyr339=)	SCN5A	Single nucleotide variant (synonymous variant)	SCN5A-related disorder +4 more	GBenign
Select item 139043	NM_000335.5(SCN5A):c.1008G>A (p.Pro336=)	SCN5A	Single nucleotide variant (synonymous variant)	not provided +10 more	GConflicting classifications of pathogenicity
Select item 463360	NM_000335.5(SCN5A):c.954C>T (p.Asn318=)	SCN5A	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +3 more	GBenign/Likely benign
Select item 1072847	NM_000335.5(SCN5A):c.934+1G>A	SCN5A	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic
Select item 68055	NM_000335.5(SCN5A):c.895T>A (p.Leu299Met)	SCN5A (L299M)	Single nucleotide variant (missense variant)	not provided +3 more	GLikely benign
Select item 139042	NM_000335.5(SCN5A):c.885G>A (p.Glu295=)	SCN5A	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 383270	NM_000335.5(SCN5A):c.873C>T (p.Asn291=)	SCN5A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign

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