"Ambry Genetics"[submitter] AND "SCN4B"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1755885	NM_174934.4(SCN4B):c.686G>C (p.Ter229Ser)	SCN4B	Single nucleotide variant (stop lost +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1755180	NM_174934.4(SCN4B):c.673C>G (p.Pro225Ala)	SCN4B (P115A +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1176917	NM_174934.4(SCN4B):c.649G>T (p.Gly217Cys)	SCN4B (G107C +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 10 +2 more	GUncertain significance
Select item 1753428	NM_174934.4(SCN4B):c.641G>T (p.Gly214Val)	SCN4B (G80V +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 10 +1 more	GUncertain significance
Select item 702477	NM_174934.4(SCN4B):c.640G>A (p.Gly214Ser)	SCN4B (G80S +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 139036	NM_174934.4(SCN4B):c.639C>T (p.Asn213=)	SCN4B	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign
Select item 1913010	NM_174934.4(SCN4B):c.636_637dup (p.Asn213fs)	SCN4B (N103fs +2 more)	Microsatellite (frameshift variant +1 more)	Long QT syndrome 10 +1 more	GUncertain significance
Select item 1752952	NM_174934.4(SCN4B):c.633G>C (p.Thr211=)	SCN4B	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 778702	NM_174934.4(SCN4B):c.633G>A (p.Thr211=)	SCN4B	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome 10 +1 more	GLikely benign
Select item 1214344	NM_174934.4(SCN4B):c.632C>T (p.Thr211Met)	SCN4B (T101M +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 10 +2 more	GUncertain significance
Select item 190895	NM_174934.4(SCN4B):c.632C>G (p.Thr211Arg)	SCN4B (T211R +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 10 +2 more	GConflicting classifications of pathogenicity
Select item 1627813	NM_174934.4(SCN4B):c.630C>T (p.Asn210=)	SCN4B	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome 10 +1 more	GLikely benign
Select item 1166800	NM_174934.4(SCN4B):c.624T>C (p.Asn208=)	SCN4B	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GBenign/Likely benign
Select item 1292196	NM_174934.4(SCN4B):c.618G>A (p.Ser206=)	SCN4B	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 191380	NM_174934.4(SCN4B):c.617C>T (p.Ser206Leu)	SCN4B (S206L +2 more)	Single nucleotide variant (missense variant +1 more)	SUDDEN INFANT DEATH SYNDROME +3 more	GConflicting classifications of pathogenicity
Select item 560693	NM_174934.4(SCN4B):c.613T>C (p.Ser205Pro)	SCN4B (S205P +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 10 +1 more	GUncertain significance
Select item 2562712	NM_174934.4(SCN4B):c.610A>G (p.Ser204Gly)	SCN4B (S94G +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 191547	NM_174934.4(SCN4B):c.607G>A (p.Val203Met)	SCN4B (V203M +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 10 +6 more	GConflicting classifications of pathogenicity
Select item 1751065	NM_174934.4(SCN4B):c.600G>A (p.Glu200=)	SCN4B	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 264183	NM_174934.4(SCN4B):c.594-2A>G	SCN4B	Single nucleotide variant (splice acceptor variant)	Long QT syndrome 10 +3 more	GUncertain significance
Select item 1750354	NM_174934.4(SCN4B):c.589A>T (p.Lys197Ter)	SCN4B (K197* +2 more)	Single nucleotide variant (nonsense +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 518541	NM_174934.4(SCN4B):c.583C>T (p.Arg195Trp)	SCN4B (R195W +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 10 +1 more	GUncertain significance
Select item 704156	NM_174934.4(SCN4B):c.579G>A (p.Lys193=)	SCN4B	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1749200	NM_174934.4(SCN4B):c.570C>A (p.Ile190=)	SCN4B	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1748349	NM_174934.4(SCN4B):c.556C>G (p.Leu186Val)	SCN4B (L76V +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3229290	NM_174934.4(SCN4B):c.549C>T (p.Ile183=)	SCN4B	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1661611	NM_174934.4(SCN4B):c.546G>A (p.Leu182=)	SCN4B	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome 10 +1 more	GLikely benign
Select item 420671	NM_174934.4(SCN4B):c.542T>C (p.Leu181Pro)	SCN4B (L181P +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1747205	NM_174934.4(SCN4B):c.538A>C (p.Ile180Leu)	SCN4B (I46L +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1746930	NM_174934.4(SCN4B):c.533T>C (p.Ile178Thr)	SCN4B (I44T +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 574219	NM_174934.4(SCN4B):c.520A>G (p.Ile174Val)	SCN4B (I174V +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 1439146	NM_174934.4(SCN4B):c.513C>T (p.Gly171=)	SCN4B	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1745261	NM_174934.4(SCN4B):c.508G>A (p.Val170Met)	SCN4B (V60M +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 10 +1 more	GUncertain significance
Select item 1745090	NM_174934.4(SCN4B):c.505G>A (p.Val169Ile)	SCN4B (V35I +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 10 +1 more	GConflicting classifications of pathogenicity
Select item 2562710	NM_174934.4(SCN4B):c.501G>A (p.Leu167=)	SCN4B	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome 10 +1 more	GLikely benign
Select item 2562709	NM_174934.4(SCN4B):c.492C>T (p.Leu164=)	SCN4B	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1744171	NM_174934.4(SCN4B):c.492C>G (p.Leu164=)	SCN4B	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1744052	NM_174934.4(SCN4B):c.491_492delinsAG (p.Leu164Gln)	SCN4B (L164Q +2 more)	Indel (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1744112	NM_174934.4(SCN4B):c.491T>A (p.Leu164His)	SCN4B (L164H +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 302646	NM_174934.4(SCN4B):c.482C>G (p.Thr161Arg)	SCN4B (T161R +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 378537	NM_174934.4(SCN4B):c.480C>T (p.Asn160=)	SCN4B	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome 10 +2 more	GBenign/Likely benign
Select item 3229289	NM_174934.4(SCN4B):c.477C>A (p.Asp159Glu)	SCN4B (D159E +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1397893	NM_174934.4(SCN4B):c.469G>C (p.Glu157Gln)	SCN4B (E157Q +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 518866	NM_174934.4(SCN4B):c.463+3A>T	LOC126861356, SCN4B	Single nucleotide variant (intron variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1365345	NM_174934.4(SCN4B):c.463C>T (p.Leu155=)	LOC126861356, SCN4B	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome 10 +1 more	GConflicting classifications of pathogenicity
Select item 1741691	NM_174934.4(SCN4B):c.458A>G (p.Asp153Gly)	LOC126861356, SCN4B (D43G +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2447643	NM_174934.4(SCN4B):c.455T>C (p.Val152Ala)	LOC126861356, SCN4B (V42A +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 190899	NM_174934.4(SCN4B):c.454G>A (p.Val152Ile)	LOC126861356, SCN4B (V152I +1 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 10 +2 more	GUncertain significance
Select item 1741199	NM_174934.4(SCN4B):c.451G>A (p.Val151Ile)	LOC126861356, SCN4B (V151I +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3229288	NM_174934.4(SCN4B):c.445C>T (p.Leu149Phe)	LOC126861356, SCN4B (L149F +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1740270	NM_174934.4(SCN4B):c.439A>T (p.Ile147Phe)	SCN4B, LOC126861356 (I147F +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1700892	NM_174934.4(SCN4B):c.433G>A (p.Ala145Thr)	SCN4B, LOC126861356 (A145T +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 506980	NM_174934.4(SCN4B):c.432C>T (p.His144=)	LOC126861356, SCN4B	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
Select item 2081457	NM_174934.4(SCN4B):c.411G>A (p.Lys137=)	LOC126861356, SCN4B	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1737182	NM_174934.4(SCN4B):c.402G>A (p.Lys134=)	LOC126861356, SCN4B	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1949541	NM_174934.4(SCN4B):c.396T>C (p.His132=)	SCN4B, LOC126861356	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome 10 +1 more	GLikely benign
Select item 1736491	NM_174934.4(SCN4B):c.395A>G (p.His132Arg)	SCN4B, LOC126861356 (H132R +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 517068	NM_174934.4(SCN4B):c.378G>A (p.Thr126=)	LOC126861356, SCN4B	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome 10 +3 more	GLikely benign
Select item 1734465	NM_174934.4(SCN4B):c.373G>C (p.Asp125His)	LOC126861356, SCN4B (D125H +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 929093	NM_174934.4(SCN4B):c.372C>T (p.Ser124=)	LOC126861356, SCN4B	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1733952	NM_174934.4(SCN4B):c.368T>A (p.Phe123Tyr)	LOC126861356, SCN4B (F123Y +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1211576	NM_174934.4(SCN4B):c.347T>C (p.Ile116Thr)	LOC126861356, SCN4B (I116T +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 2562713	NM_174934.4(SCN4B):c.345C>T (p.Ser115=)	LOC126861356, SCN4B	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome 10 +1 more	GLikely benign
Select item 519268	NM_174934.4(SCN4B):c.335ACA[1] (p.Asn113del)	LOC126861356, SCN4B (N113del +1 more)	Microsatellite (inframe_deletion +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1730700	NM_174934.4(SCN4B):c.336C>G (p.Asn112Lys)	LOC126861356, SCN4B (N112K +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1727931	NM_174934.4(SCN4B):c.312A>G (p.Val104=)	LOC126861356, SCN4B	Single nucleotide variant (5 prime UTR variant +2 more)	Cardiovascular phenotype	GLikely benign
Select item 1797678	NM_174934.4(SCN4B):c.291C>T (p.Asp97=)	LOC126861356, SCN4B	Single nucleotide variant (5 prime UTR variant +3 more)	Long QT syndrome 10 +1 more	GLikely benign
Select item 1796568	NM_174934.4(SCN4B):c.282G>A (p.Thr94=)	LOC126861356, SCN4B	Single nucleotide variant (5 prime UTR variant +3 more)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 190894	NM_174934.4(SCN4B):c.281C>T (p.Thr94Met)	LOC126861356, SCN4B (T94M)	Single nucleotide variant (5 prime UTR variant +3 more)	Long QT syndrome 10 +2 more	GUncertain significance
Select item 1484623	NM_174934.4(SCN4B):c.259G>A (p.Glu87Lys)	LOC126861356, SCN4B (E87K)	Single nucleotide variant (5 prime UTR variant +3 more)	Long QT syndrome 10 +1 more	GUncertain significance
Select item 2625086	NM_174934.4(SCN4B):c.234+1G>T	SCN4B	Single nucleotide variant (intron variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1789849	NM_174934.4(SCN4B):c.234+1G>C	SCN4B	Single nucleotide variant (intron variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1414065	NM_174934.4(SCN4B):c.234+1G>A	SCN4B	Single nucleotide variant (intron variant +1 more)	Long QT syndrome 10 +1 more	GUncertain significance
Select item 2619522	NM_174934.4(SCN4B):c.231G>C (p.Lys77Asn)	SCN4B (K77N)	Single nucleotide variant (5 prime UTR variant +3 more)	Cardiovascular phenotype	GUncertain significance
Select item 1788256	NM_174934.4(SCN4B):c.223G>A (p.Ala75Thr)	SCN4B (A75T)	Single nucleotide variant (5 prime UTR variant +3 more)	Cardiovascular phenotype	GUncertain significance
Select item 1788069	NM_174934.4(SCN4B):c.222C>T (p.Asp74=)	SCN4B	Single nucleotide variant (5 prime UTR variant +3 more)	Cardiovascular phenotype	GLikely benign
Select item 1784384	NM_174934.4(SCN4B):c.200G>A (p.Arg67Gln)	SCN4B (R67Q)	Single nucleotide variant (5 prime UTR variant +3 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 190892	NM_174934.4(SCN4B):c.199C>T (p.Arg67Trp)	SCN4B (R67W)	Single nucleotide variant (5 prime UTR variant +3 more)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 190891	NM_174934.4(SCN4B):c.194A>T (p.His65Leu)	SCN4B (H65L)	Single nucleotide variant (5 prime UTR variant +3 more)	Long QT syndrome 10 +2 more	GConflicting classifications of pathogenicity
Select item 2562708	NM_174934.4(SCN4B):c.183C>G (p.Phe61Leu)	SCN4B (F61L)	Single nucleotide variant (5 prime UTR variant +3 more)	Cardiovascular phenotype	GUncertain significance
Select item 1781116	NM_174934.4(SCN4B):c.183C>T (p.Phe61=)	SCN4B	Single nucleotide variant (5 prime UTR variant +3 more)	Cardiovascular phenotype	GLikely benign
Select item 302648	NM_174934.4(SCN4B):c.176T>C (p.Phe59Ser)	SCN4B (F59S)	Single nucleotide variant (5 prime UTR variant +3 more)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 139037	NM_174934.4(SCN4B):c.174C>T (p.Cys58=)	SCN4B	Single nucleotide variant (5 prime UTR variant +3 more)	Congenital long QT syndrome +3 more	GBenign/Likely benign
Select item 3229286	NM_174934.4(SCN4B):c.128C>T (p.Ala43Val)	SCN4B (A43V)	Single nucleotide variant (5 prime UTR variant +3 more)	Cardiovascular phenotype	GUncertain significance
Select item 519285	NM_174934.4(SCN4B):c.115A>G (p.Thr39Ala)	SCN4B (T39A)	Single nucleotide variant (5 prime UTR variant +3 more)	Long QT syndrome 10 +2 more	GUncertain significance
Select item 191497	NM_174934.4(SCN4B):c.112G>C (p.Ala38Pro)	SCN4B (A38P)	Single nucleotide variant (5 prime UTR variant +3 more)	Long QT syndrome 10 +2 more	GConflicting classifications of pathogenicity
Select item 1776721	NM_174934.4(SCN4B):c.104T>C (p.Val35Ala)	SCN4B (V35A)	Single nucleotide variant (5 prime UTR variant +3 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1770891	NM_174934.4(SCN4B):c.102T>C (p.Ser34=)	SCN4B	Single nucleotide variant (5 prime UTR variant +3 more)	Cardiovascular phenotype	GLikely benign
Select item 3229291	NM_174934.4(SCN4B):c.96G>C (p.Glu32Asp)	SCN4B (E32D)	Single nucleotide variant (5 prime UTR variant +3 more)	Cardiovascular phenotype	GUncertain significance
Select item 1765811	NM_174934.4(SCN4B):c.90G>T (p.Ser30=)	SCN4B	Single nucleotide variant (5 prime UTR variant +3 more)	Cardiovascular phenotype	GUncertain significance
Select item 2447645	NM_174934.4(SCN4B):c.78C>G (p.Pro26=)	SCN4B	Single nucleotide variant (5 prime UTR variant +3 more)	Cardiovascular phenotype	GLikely benign
Select item 929039	NM_174934.4(SCN4B):c.78C>T (p.Pro26=)	SCN4B	Single nucleotide variant (5 prime UTR variant +3 more)	Cardiovascular phenotype +2 more	GLikely benign
Select item 2447644	NM_174934.4(SCN4B):c.75C>G (p.Leu25=)	SCN4B	Single nucleotide variant (5 prime UTR variant +3 more)	Cardiovascular phenotype	GLikely benign
Select item 1753299	NM_174934.4(SCN4B):c.63C>T (p.Gly21=)	LOC130006838, SCN4B	Single nucleotide variant (5 prime UTR variant +3 more)	Cardiovascular phenotype	GLikely benign
Select item 1747975	NM_174934.4(SCN4B):c.55_56delinsGA (p.Leu19Asp)	SCN4B (L19D)	Indel (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 663765	NM_174934.4(SCN4B):c.40T>G (p.Trp14Gly)	SCN4B (W14G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1734075	NM_174934.4(SCN4B):c.36G>A (p.Ala12=)	SCN4B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 190897	NM_174934.4(SCN4B):c.34G>A (p.Ala12Thr)	SCN4B (A12T)	Single nucleotide variant (missense variant)	Long QT syndrome 10 +2 more	GUncertain significance
Select item 518738	NM_174934.4(SCN4B):c.33G>C (p.Pro11=)	SCN4B	Single nucleotide variant (synonymous variant)	Long QT syndrome 10 +1 more	GLikely benign
Select item 1792199	NM_174934.4(SCN4B):c.24C>A (p.Gly8=)	SCN4B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign

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