"Baylor Genetics"[submitter] AND "STX11"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2679068	NM_003764.4(STX11):c.73G>T (p.Glu25Ter)	STX11 (E25*)	Single nucleotide variant (nonsense)	Familial hemophagocytic lymphohistiocytosis 4	GPathogenic
Select item 1412986	NM_003764.4(STX11):c.83C>A (p.Ser28Ter)	STX11 (S28*)	Single nucleotide variant (nonsense)	Familial hemophagocytic lymphohistiocytosis 4	GPathogenic/Likely pathogenic
Select item 3240550	NM_003764.4(STX11):c.157_160del (p.Asp53fs)	STX11 (D53fs)	Deletion (frameshift variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely pathogenic
Select item 2679067	NM_003764.4(STX11):c.325G>T (p.Glu109Ter)	STX11 (E109*)	Single nucleotide variant (nonsense)	Familial hemophagocytic lymphohistiocytosis 4	GLikely pathogenic
Select item 3240549	NM_003764.4(STX11):c.337_352dup (p.His118delinsArgGlyTer)	STX11	Duplication (nonsense)	Familial hemophagocytic lymphohistiocytosis 4	GLikely pathogenic
Select item 203384	NM_003764.4(STX11):c.391C>T (p.Gln131Ter)	STX11 (Q131*)	Single nucleotide variant (nonsense)	Familial hemophagocytic lymphohistiocytosis 4	GPathogenic/Likely pathogenic
Select item 2679070	NM_003764.4(STX11):c.397_398del (p.Asn133fs)	STX11 (N133fs)	Deletion (frameshift variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely pathogenic
Select item 2679069	NM_003764.4(STX11):c.484C>T (p.Gln162Ter)	STX11 (Q162*)	Single nucleotide variant (nonsense)	Familial hemophagocytic lymphohistiocytosis 4	GPathogenic/Likely pathogenic
Select item 2679065	NM_003764.4(STX11):c.551del (p.Gly184fs)	STX11 (G184fs)	Deletion (frameshift variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely pathogenic
Select item 2679060	NM_003764.4(STX11):c.568dup (p.Ser190fs)	STX11 (S190fs)	Duplication (frameshift variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely pathogenic
Select item 2679061	NM_003764.4(STX11):c.645dup (p.Arg216fs)	STX11 (R216fs)	Duplication (frameshift variant)	Familial hemophagocytic lymphohistiocytosis 4	GPathogenic/Likely pathogenic
Select item 2679066	NM_003764.4(STX11):c.697del (p.Val233fs)	STX11 (V233fs)	Deletion (frameshift variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely pathogenic
Select item 2679062	NM_003764.4(STX11):c.748C>T (p.Gln250Ter)	STX11 (Q250*)	Single nucleotide variant (nonsense)	Familial hemophagocytic lymphohistiocytosis 4	GPathogenic
Select item 2679064	NM_003764.4(STX11):c.807C>A (p.Tyr269Ter)	STX11 (Y269*)	Single nucleotide variant (nonsense)	Familial hemophagocytic lymphohistiocytosis 4	GLikely pathogenic
Select item 625705	GRCh37/hg19 6q23.3-24.3(chr6:135239633-146997510)	ABRACL, ADAT2 +49 more	Copy number loss	not provided	GPathogenic