"STX11-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 790834	NM_003764.4(STX11):c.221C>T (p.Thr74Met)	STX11 (T74M)	Single nucleotide variant (missense variant)	STX11-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 763702	NM_003764.4(STX11):c.237C>T (p.Leu79=)	STX11	Single nucleotide variant (synonymous variant)	STX11-related disorder +1 more	GLikely benign
Select item 2771718	NM_003764.4(STX11):c.327G>A (p.Glu109=)	STX11	Single nucleotide variant (synonymous variant)	STX11-related disorder +1 more	GLikely benign
Select item 2792832	NM_003764.4(STX11):c.447C>T (p.Ala149=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4 +1 more	GLikely benign
Select item 355604	NM_003764.4(STX11):c.589G>A (p.Val197Met)	STX11 (V197M)	Single nucleotide variant (missense variant)	STX11-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 791755	NM_003764.4(STX11):c.681C>T (p.Leu227=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4 +1 more	GConflicting classifications of pathogenicity

ClinVar