"PreventionGenetics, part of Exact Sciences"[submitter] AND "XIAP"[gen - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2634592	NM_001167.4(XIAP):c.185G>A (p.Arg62Gln)	XIAP (R62Q)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to XIAP deficiency +1 more	GUncertain significance
Select item 465073	NM_001167.4(XIAP):c.769C>G (p.Pro257Ala)	XIAP (P257A)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1167303	NM_001167.4(XIAP):c.878-5C>G	XIAP	Single nucleotide variant (intron variant)	XIAP-related condition +1 more	GBenign/Likely benign
Select item 2632354	NM_001167.4(XIAP):c.977+1G>A	XIAP	Single nucleotide variant (splice donor variant)	XIAP-related condition	GLikely pathogenic
Select item 2048465	NM_001167.4(XIAP):c.1009G>T (p.Glu337Ter)	XIAP (E337*)	Single nucleotide variant (nonsense +1 more)	X-linked lymphoproliferative disease due to XIAP deficiency +1 more	GPathogenic
Select item 225518	NM_001167.4(XIAP):c.1045GAG[1] (p.Glu350del)	XIAP (E350del)	Microsatellite (inframe_deletion +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 754749	NM_001167.4(XIAP):c.1057-7G>A	XIAP	Single nucleotide variant (intron variant)	X-linked lymphoproliferative disease due to XIAP deficiency +1 more	GBenign/Likely benign
Select item 3054481	NM_001167.4(XIAP):c.1167T>A (p.Ile389=)	XIAP	Single nucleotide variant (synonymous variant +1 more)	XIAP-related condition	GLikely benign
Select item 257589	NM_001167.4(XIAP):c.1268A>C (p.Gln423Pro)	XIAP (Q423P)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign
Select item 1167269	NM_001167.4(XIAP):c.1416A>G (p.Lys472=)	XIAP	Single nucleotide variant (synonymous variant +1 more)	XIAP-related condition +1 more	GBenign/Likely benign
Select item 3030905	NM_001167.4(XIAP):c.5178_5180del	XIAP	Deletion (3 prime UTR variant +1 more)	XIAP-related condition	GLikely benign