"GeneDx"[submitter] AND "SCN3B"[gene] - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 151354	GRCh38/hg38 11q23.3-24.2(chr11:120080142-125829106)x1	ACRV1, ARHGEF12 +255 more	Copy number loss	See cases	GPathogenic
Select item 59777	GRCh38/hg38 11q23.3-25(chr11:120236432-135040246)x3	OR8G5, PANX3 +519 more	Copy number gain	See cases	GPathogenic
Select item 145002	GRCh38/hg38 11q23.3-24.2(chr11:120426093-124771213)x1	ARHGEF12, BLID +184 more	Copy number loss	See cases	GPathogenic
Select item 152641	GRCh38/hg38 11q24.1-24.2(chr11:123543649-124802201)x3	ESAM, ESAM-AS1 +59 more	Copy number gain	See cases	GUncertain significance
Select item 303187	NM_001040151.2(SCN3B):c.*509G>A	SCN3B	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1235607	NM_001040151.2(SCN3B):c.*153C>T	SCN3B	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1273376	NM_001040151.2(SCN3B):c.*26G>A	SCN3B	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 392040	NM_001040151.2(SCN3B):c.*23-15T>A	SCN3B	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 671838	NM_001040151.2(SCN3B):c.*22+156G>C	SCN3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 139035	NM_001040151.2(SCN3B):c.*22+16A>C	SCN3B	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 190884	NM_001040151.2(SCN3B):c.629C>T (p.Ala210Val)	SCN3B (A210V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 426980	NM_001040151.2(SCN3B):c.614A>G (p.Asn205Ser)	SCN3B (N205S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 670950	NM_001040151.2(SCN3B):c.585-45G>C	SCN3B	Single nucleotide variant (intron variant)	Brugada syndrome 7 +1 more	GBenign
Select item 672213	NM_001040151.2(SCN3B):c.585-130T>C	SCN3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1210765	NM_001040151.2(SCN3B):c.585-156A>G	SCN3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 671837	NM_001040151.2(SCN3B):c.585-185G>A	SCN3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193693	NM_001040151.2(SCN3B):c.585-190T>A	SCN3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 675388	NM_001040151.2(SCN3B):c.584+206C>A	SCN3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670949	NM_001040151.2(SCN3B):c.584+130C>T	SCN3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 670948	NM_001040151.2(SCN3B):c.584+91C>T	SCN3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 675387	NM_001040151.2(SCN3B):c.584+52T>C	SCN3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 380685	NM_001040151.2(SCN3B):c.584+12G>A	SCN3B	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 642346	NM_001040151.2(SCN3B):c.583G>A (p.Ala195Thr)	SCN3B (A195T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 190883	NM_001040151.2(SCN3B):c.582C>T (p.Asn194=)	SCN3B	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 389585	NM_001040151.2(SCN3B):c.489C>T (p.Tyr163=)	SCN3B	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 675386	NM_001040151.2(SCN3B):c.446-204C>T	SCN3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275417	NM_001040151.2(SCN3B):c.445+197T>C	SCN3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 378923	NM_001040151.2(SCN3B):c.445+3G>A	SCN3B	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 261028	NM_001040151.2(SCN3B):c.438C>T (p.Thr146=)	SCN3B	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 139034	NM_001040151.2(SCN3B):c.438C>A (p.Thr146=)	SCN3B	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 190888	NM_001040151.2(SCN3B):c.416G>A (p.Arg139Gln)	SCN3B (R139Q)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 264285	NM_001040151.2(SCN3B):c.390G>T (p.Ala130=)	SCN3B	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 139033	NM_001040151.2(SCN3B):c.390G>A (p.Ala130=)	SCN3B	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1328589	NM_001040151.2(SCN3B):c.389C>A (p.Ala130Glu)	SCN3B (A130E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 140597	NM_001040151.2(SCN3B):c.389C>T (p.Ala130Val)	SCN3B (A130V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 516635	NM_001040151.2(SCN3B):c.339C>T (p.Asn113=)	SCN3B	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 190886	NM_001040151.2(SCN3B):c.328G>A (p.Val110Ile)	SCN3B (V110I)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 416600	NM_001040151.2(SCN3B):c.327C>T (p.Asn109=)	SCN3B	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 674191	NM_001040151.2(SCN3B):c.220-132C>T	SCN3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 674316	NM_001040151.2(SCN3B):c.220-133C>T	SCN3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1223414	NM_001040151.2(SCN3B):c.220-148del	SCN3B	Deletion (intron variant)	not provided	GLikely benign
Select item 669619	NM_001040151.2(SCN3B):c.220-281A>G	SCN3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 381911	NM_001040151.2(SCN3B):c.219+18C>T	SCN3B	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1305211	NM_001040151.2(SCN3B):c.205G>A (p.Gly69Ser)	SCN3B (G69S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 432438	NM_001040151.2(SCN3B):c.199G>A (p.Glu67Lys)	SCN3B (E67K)	Single nucleotide variant (missense variant)	Brugada syndrome 7 +3 more	GUncertain significance
Select item 190885	NM_001040151.2(SCN3B):c.198C>T (p.Pro66=)	SCN3B	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 140596	NM_001040151.2(SCN3B):c.161T>G (p.Val54Gly)	SCN3B (V54G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 263681	NM_001040151.2(SCN3B):c.105C>T (p.Ala35=)	SCN3B	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 1005948	NM_001040151.2(SCN3B):c.73G>T (p.Val25Leu)	SCN3B (V25L)	Single nucleotide variant (missense variant)	Brugada syndrome 7 +2 more	GConflicting classifications of pathogenicity
Select item 190887	NM_001040151.2(SCN3B):c.59G>A (p.Ser20Asn)	SCN3B (S20N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 683816	NM_001040151.2(SCN3B):c.56-254A>C	SCN3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194088	NM_001040151.2(SCN3B):c.56-310del	SCN3B	Deletion (intron variant)	not provided	GLikely benign
Select item 1237209	NM_001040151.2(SCN3B):c.55+160A>T	SCN3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673268	NM_001040151.2(SCN3B):c.55+66T>C	SCN3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1250919	NM_001040151.2(SCN3B):c.55+44C>T	SCN3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 388069	NM_001040151.2(SCN3B):c.55+7A>G	SCN3B	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 2470	NM_001040151.2(SCN3B):c.29T>C (p.Leu10Pro)	SCN3B (L10P)	Single nucleotide variant (missense variant)	Brugada syndrome 7 +4 more	GConflicting classifications of pathogenicity
Select item 303193	NM_001040151.2(SCN3B):c.-9C>T	SCN3B	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 1281306	NM_001040151.2(SCN3B):c.-25-154C>T	SCN3B	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1280144	NM_001040151.2(SCN3B):c.-25-156A>G	SCN3B	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1205679	NM_001040151.2(SCN3B):c.-25-158C>T	SCN3B	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 303198	NM_001040151.2(SCN3B):c.-25-169G>T	SCN3B	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1264207	NM_001040151.2(SCN3B):c.-26+191G>A	LOC130006992, SCN3B	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 303204	NM_001040151.2(SCN3B):c.-26+86C>G	SCN3B	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
Select item 303205	NM_001040151.2(SCN3B):c.-26+61G>A	SCN3B	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 669980	NM_001040151.2(SCN3B):c.-26+17C>G	SCN3B	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 682198	NM_001040151.2(SCN3B):c.-26+12T>C	SCN3B	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1273902	NM_001040151.2(SCN3B):c.-32G>A	SCN3B	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1202251	NM_001040151.2(SCN3B):c.-277C>G	SCN3B	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1271743	NM_001040151.2(SCN3B):c.-293G>C	SCN3B	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1238720	NM_001040151.2(SCN3B):c.-364G>A	SCN3B	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1281565	NC_000011.10:g.123654696dup	LOC130006993, SCN3B	Duplication	not provided	GBenign
Select item 671029	NM_018400.3(SCN3B):c.-951C>G	LOC130006993, SCN3B	Single nucleotide variant	not provided	GBenign
Select item 671028	NM_018400.3(SCN3B):c.-955A>C	LOC130006993, SCN3B	Single nucleotide variant	not provided	GBenign
Select item 1187514	NC_000011.10:g.123654920A>G	SCN3B	Single nucleotide variant	not provided	GLikely benign
Select item 253601	GRCh37/hg19 11q23.3-25(chr11:119807473-134868407)x1	ACAD8, ACRV1 +113 more	Copy number loss	See cases	GPathogenic
Select item 253521	GRCh37/hg19 11q23.3-25(chr11:120615374-134868407)x1	CCDC15, CDON +108 more	Copy number loss	See cases	GPathogenic

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Items: 78