"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 287381	NM_001167.4(XIAP):c.844G>A (p.Glu282Lys)	XIAP (E282K)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +3 more	GUncertain significance
Select item 1694222	NM_001167.4(XIAP):c.862G>T (p.Gly288Ter)	XIAP (G288*)	Single nucleotide variant (nonsense)	Autoinflammatory syndrome	GLikely pathogenic
Select item 367795	NM_001167.4(XIAP):c.1100A>G (p.Asp367Gly)	XIAP (D367G)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +1 more	GConflicting classifications of pathogenicity
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 784737	NM_001167.4(XIAP):c.1408A>T (p.Thr470Ser)	XIAP (T470S)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1694221	NM_001167.4(XIAP):c.*10A>G	XIAP	Single nucleotide variant (3 prime UTR variant +1 more)	Autoinflammatory syndrome	GUncertain significance
Select item 367831	NM_001167.4(XIAP):c.*4078C>A	XIAP	Single nucleotide variant (3 prime UTR variant +1 more)	Autoinflammatory syndrome +1 more	GBenign