"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar - NCBI

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Items: 12

	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 1263687	NM_001037.5(SCN1B):c.207+19C>T	SCN1B	Single nucleotide variant (intron variant)	Brugada syndrome 5 +1 more	GBenign/Likely benign
Select item 993530	NM_001037.5(SCN1B):c.215G>A (p.Arg72His)	SCN1B (R39H +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 138992	NM_001037.5(SCN1B):c.267C>T (p.Arg89=)	SCN1B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GBenign/Likely benign
Select item 138993	NM_001037.5(SCN1B):c.300C>T (p.Asp100=)	SCN1B	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 138995	NM_001037.5(SCN1B):c.351C>T (p.Gly117=)	SCN1B	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 180508	NM_001037.5(SCN1B):c.412G>A (p.Val138Ile)	SCN1B (V138I +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 406499	NM_001037.5(SCN1B):c.448+40G>A	SCN1B (R163Q)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome 5 +1 more	GUncertain significance
Select item 190847	NM_001037.5(SCN1B):c.448+193G>A	SCN1B (R214Q)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 52 +6 more	GConflicting classifications of pathogenicity
Select item 139005	NM_001037.5(SCN1B):c.588T>C (p.Asn196=)	SCN1B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
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 190877	NM_001037.5(SCN1B):c.632G>A (p.Cys211Tyr)	SCN1B (C211Y +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome 5 +3 more	GConflicting classifications of pathogenicity