Related gene-specific medical variations for Gene (Select 331) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362282	NM_001167.4(XIAP):c.997C>T (p.Gln333Ter)	XIAP (Q333*)	Single nucleotide variant (nonsense +1 more)	X-linked lymphoproliferative disease due to XIAP deficiency	GPathogenic
Select item 3244585	NC_000023.10:g.(?_123019513)_(123034563_?)dup	XIAP	Duplication	X-linked lymphoproliferative disease due to XIAP deficiency	GUncertain significance
Select item 3244562	NC_000023.10:g.(?_123025068)_(123041031_?)del	XIAP	Deletion	X-linked lymphoproliferative disease due to XIAP deficiency	GPathogenic
Select item 3244551	NC_000023.10:g.(?_123010866)_(123025086_?)del	XIAP	Deletion	X-linked lymphoproliferative disease due to XIAP deficiency	GPathogenic
Select item 980322	GRCh37/hg19 Xq25(chrX:122896328-123069720)x3	XIAP	Copy number gain	not provided	GPathogenic
Select item 973578	NM_001167.4(XIAP):c.-10_977+11del	XIAP	Deletion (splice acceptor variant +2 more)	Lymphoproliferative syndrome 2	GPathogenic
Select item 685513	GRCh37/hg19 Xq25(chrX:122989834-123009885)x2	XIAP	Copy number gain	not provided	GUncertain significance
Select item 636687	NM_001167.4(XIAP):c.337G>C (p.Gly113Arg)	XIAP (G113R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 625799	GRCh37/hg19 Xq25(chrX:122970459-123034511)	XIAP	Copy number loss	X-linked lymphoproliferative disease due to XIAP deficiency	GPathogenic
Select item 11647	NG_007264.1:g.(31343_33421)_(33522_36040)del	XIAP	Deletion	X-linked lymphoproliferative disease due to XIAP deficiency	GPathogenic