Related gene-specific medical variations for Gene (Select 6324) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359082	NM_001037.5(SCN1B):c.254G>T (p.Arg85Leu)	SCN1B (R52L +1 more)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 3068202	NM_001037.5(SCN1B):c.448+63T>C	SCN1B (W171R)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 52	GUncertain significance
Select item 3065198	NM_001037.5(SCN1B):c.448+349del	SCN1B (G266fs)	Deletion (frameshift variant +1 more)	Developmental and epileptic encephalopathy, 52	GLikely pathogenic
Select item 2441923	NM_001037.5(SCN1B):c.634A>T (p.Thr212Ser)	SCN1B (T179S +1 more)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 1	GUncertain significance
Select item 1213780	NM_001037.5(SCN1B):c.*8C>T	SCN1B	Single nucleotide variant (3 prime UTR variant)	Generalized epilepsy with febrile seizures plus, type 1	GUncertain significance
Select item 1190623	NM_001037.5(SCN1B):c.-265G>A	LOC130064204, SCN1B	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 871230	NM_001037.5(SCN1B):c.208-1G>C	SCN1B	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 675777	NM_001037.5(SCN1B):c.-226C>T	LOC130064204, SCN1B	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign

ClinVar