"PreventionGenetics, part of Exact Sciences"[submitter] AND "SCN1B"[ge - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 190869	NM_001037.5(SCN1B):c.28G>A (p.Gly10Ser)	SCN1B (G10S)	Single nucleotide variant (missense variant)	Brugada syndrome 5 +5 more	GConflicting classifications of pathogenicity
Select item 93481	NM_001037.5(SCN1B):c.40+15G>T	SCN1B	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 519511	NM_001037.5(SCN1B):c.69G>C (p.Glu23Asp)	SCN1B (E23D)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome 5 +2 more	GUncertain significance
Select item 3033894	NM_001037.5(SCN1B):c.251A>G (p.Glu84Gly)	SCN1B (E51G +1 more)	Single nucleotide variant (missense variant)	SCN1B-related disorder	GUncertain significance
Select item 2629905	NM_001037.5(SCN1B):c.254del (p.Arg85fs)	SCN1B (R52fs +1 more)	Deletion (frameshift variant)	SCN1B-related disorder	GUncertain significance
Select item 60767	NM_001037.5(SCN1B):c.254G>A (p.Arg85His)	SCN1B (R85H +1 more)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 1 +6 more	GPathogenic/Likely pathogenic
Select item 138992	NM_001037.5(SCN1B):c.267C>T (p.Arg89=)	SCN1B	Single nucleotide variant (synonymous variant)	Brugada syndrome 5 +7 more	GBenign/Likely benign
Select item 2162459	NM_001037.5(SCN1B):c.289G>A (p.Gly97Ser)	SCN1B (G97S +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome 5 +1 more	GUncertain significance
Select item 138994	NM_001037.5(SCN1B):c.348G>A (p.Ser116=)	SCN1B	Single nucleotide variant (synonymous variant)	Brugada syndrome 5 +4 more	GBenign/Likely benign
Select item 9252	NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp)	SCN1B (C121W +1 more)	Single nucleotide variant (missense variant)	SCN1B-related disorder +7 more	GPathogenic/Likely pathogenic
Select item 700132	NM_001037.5(SCN1B):c.448+48A>C	SCN1B	Single nucleotide variant (synonymous variant +1 more)	Brugada syndrome 5 +2 more	GBenign/Likely benign
Select item 190850	NM_001037.5(SCN1B):c.448+321G>A	SCN1B (G257R)	Single nucleotide variant (missense variant +1 more)	not provided +7 more	GBenign/Likely benign
Select item 385979	NM_001037.5(SCN1B):c.471C>T (p.Ile157=)	SCN1B	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 130210	NM_001037.5(SCN1B):c.501T>C (p.Ile167=)	SCN1B	Single nucleotide variant (synonymous variant)	Generalized epilepsy with febrile seizures plus, type 1 +4 more	GBenign
Select item 139005	NM_001037.5(SCN1B):c.588T>C (p.Asn196=)	SCN1B	Single nucleotide variant (synonymous variant)	Brugada syndrome 5 +3 more	GBenign/Likely benign
Select item 190874	NM_001037.5(SCN1B):c.590C>T (p.Ala197Val)	SCN1B (A197V +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome 5 +6 more	GUncertain significance
Select item 257220	NM_001037.5(SCN1B):c.591-14C>A	SCN1B	Single nucleotide variant (intron variant)	Generalized epilepsy with febrile seizures plus, type 1 +5 more	GBenign/Likely benign
Select item 257219	NM_001037.5(SCN1B):c.5+7C>T	SCN1B	Single nucleotide variant (intron variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity