C2677326[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2436512	NM_001032221.6(STXBP1):c.2T>A (p.Met1Lys)	LOC130002651, STXBP1 (M1K)	Single nucleotide variant (missense variant +3 more)	Developmental and epileptic encephalopathy, 4	GUncertain significance
Select item 2436513	NM_001032221.6(STXBP1):c.10A>G (p.Ile4Val)	LOC130002651, STXBP1 (I4V)	Single nucleotide variant (missense variant +2 more)	Developmental and epileptic encephalopathy, 4	GUncertain significance
Select item 2434011	NM_001032221.6(STXBP1):c.107T>A (p.Leu36Ter)	STXBP1 (L22* +1 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 4	GLikely pathogenic
Select item 488800	NM_001032221.6(STXBP1):c.170-2A>G	STXBP1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 817213	NM_001032221.6(STXBP1):c.260_261del (p.Leu87fs)	STXBP1 (L87fs +1 more)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2436514	NM_001032221.6(STXBP1):c.530C>T (p.Ala177Val)	STXBP1 (A163V +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 4	GUncertain significance
Select item 2436515	NM_001032221.6(STXBP1):c.649C>T (p.Pro217Ser)	STXBP1 (P203S +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 4	GUncertain significance
Select item 199083	NM_001032221.6(STXBP1):c.704G>A (p.Arg235Gln)	STXBP1 (R235Q +2 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GPathogenic
Select item 2171680	NM_001032221.6(STXBP1):c.730C>G (p.Leu244Val)	STXBP1 (L244V +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 4 +2 more	GConflicting classifications of pathogenicity
Select item 160070	NM_001032221.6(STXBP1):c.734A>G (p.His245Arg)	STXBP1 (H245R +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 4 +1 more	GPathogenic/Likely pathogenic
Select item 375214	NM_001032221.6(STXBP1):c.902+1G>A	STXBP1	Single nucleotide variant (splice donor variant +1 more)	Developmental and epileptic encephalopathy, 4	GPathogenic
Select item 2436516	NM_001032221.6(STXBP1):c.1008G>C (p.Gln336His)	STXBP1 (Q300H +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 4	GUncertain significance
Select item 1205074	NM_001032221.6(STXBP1):c.1084G>A (p.Val362Ile)	STXBP1 (V326I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2690168	NM_001032221.6(STXBP1):c.1171G>A (p.Val391Ile)	STXBP1 (V355I +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 4	GUncertain significance
Select item 207435	NM_001032221.6(STXBP1):c.1359+1G>A	STXBP1	Single nucleotide variant (splice donor variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GPathogenic
Select item 566474	NM_001032221.6(STXBP1):c.1652G>A (p.Arg551His)	STXBP1 (R551H +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 4 +2 more	GPathogenic/Likely pathogenic
Select item 2436517	NM_001032221.6(STXBP1):c.1658C>A (p.Ala553Asp)	STXBP1 (A517D +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 4	GUncertain significance