C2751293[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 662726	NM_006949.4(STXBP2):c.474_483delinsGA (p.Cys158fs)	STXBP2 (C158fs +2 more)	Indel (frameshift variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1016028	NM_006949.4(STXBP2):c.962C>T (p.Ala321Val)	STXBP2 (A318V +2 more)	Single nucleotide variant (missense variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GUncertain significance
Select item 330555	NM_006949.4(STXBP2):c.1247-1G>C	STXBP2	Single nucleotide variant (splice acceptor variant)	Autoinflammatory syndrome +3 more	GPathogenic
Select item 7858	NM_006949.4(STXBP2):c.1430C>T (p.Pro477Leu)	STXBP2 (P477L +2 more)	Single nucleotide variant (missense variant +1 more)	STXBP2-related condition +1 more	GPathogenic
Select item 2436518	NM_006949.4(STXBP2):c.1538+12G>C	STXBP2	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 5	GConflicting classifications of pathogenicity
Select item 30219	NM_006949.4(STXBP2):c.1621G>A (p.Gly541Ser)	STXBP2 (G541S +2 more)	Single nucleotide variant (missense variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5 +4 more	GPathogenic/Likely pathogenic

ClinVar