"Genome-Nilou Lab"[submitter] AND "STXBP2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 260104	NM_006949.4(STXBP2):c.38-7C>T	STXBP2	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 5 +3 more	GBenign
Select item 260087	NM_006949.4(STXBP2):c.1247-43T>C	STXBP2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 260088	NM_006949.4(STXBP2):c.1356+18A>G	STXBP2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 260089	NM_006949.4(STXBP2):c.1443T>C (p.Asp481=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign
Select item 260094	NM_006949.4(STXBP2):c.1576A>G (p.Ile526Val)	STXBP2 (I526V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign
Select item 260100	NM_006949.4(STXBP2):c.1696+28G>C	STXBP2	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 5 +2 more	GBenign
Select item 260102	NM_006949.4(STXBP2):c.1697-26T>G	STXBP2	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 5 +2 more	GBenign

ClinVar