"GeneDx"[submitter] AND "XIAP"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145168	GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1	LOC125467786, LOC125467787 +1203 more	Copy number loss	See cases	GPathogenic
Select item 58661	GRCh38/hg38 Xq21.1-25(chrX:81261589-126519353)x3	LOC126863293, LOC126863294 +478 more	Copy number gain	See cases	GPathogenic
Select item 58668	GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3	MIR2114, MIR224 +718 more	Copy number gain	See cases	GPathogenic
Select item 145170	GRCh38/hg38 Xq25(chrX:123859097-128717147)x3	ACTRT1, DCAF12L1 +19 more	Copy number gain	See cases	GPathogenic
Select item 1278675	NM_001204401.2(XIAP):c.-43C>T	XIAP	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 503904	NM_001167.4(XIAP):c.108del (p.Pro37fs)	XIAP (P37fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1307339	NM_001167.4(XIAP):c.203C>T (p.Ala68Val)	XIAP (A68V)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to XIAP deficiency +1 more	GUncertain significance
Select item 1417878	NM_001167.4(XIAP):c.368G>A (p.Ser123Asn)	XIAP (S123N)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to XIAP deficiency +1 more	GConflicting classifications of pathogenicity
Select item 664245	NM_001167.4(XIAP):c.562G>A (p.Gly188Arg)	XIAP (G188R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1162913	NM_001167.4(XIAP):c.894_898del (p.Lys299fs)	XIAP (K299fs)	Microsatellite (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 1289839	NM_001167.4(XIAP):c.977+286T>C	XIAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 225518	NM_001167.4(XIAP):c.1045GAG[1] (p.Glu350del)	XIAP (E350del)	Microsatellite (inframe_deletion +1 more)	X-linked lymphoproliferative disease due to XIAP deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1178358	NM_001167.4(XIAP):c.1100-116A>G	XIAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3343720	NM_001167.4(XIAP):c.1239_1242dup (p.Val415fs)	XIAP (V415fs)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 1313347	NM_001167.4(XIAP):c.1262G>A (p.Ser421Asn)	XIAP (S421N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 257589	NM_001167.4(XIAP):c.1268A>C (p.Gln423Pro)	XIAP (Q423P)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +3 more	GBenign
Select item 253984	GRCh37/hg19 Xq25(chrX:122992963-123211555)x2	STAG2, XIAP	Copy number gain	See cases	GUncertain significance
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	TMEM255A, TMEM31 +819 more	Copy number gain	See cases	GPathogenic
Select item 253616	GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	ABCB7, ABCD1 +783 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	PNMA3, PLP1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253579	GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1	CETN2, CLIC2 +222 more	Copy number loss	See cases	GPathogenic
Select item 253572	GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	MAGEB4, MAGEB5 +818 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	RPS6KA3, RPS6KA6 +819 more	Copy number gain	See cases	GPathogenic
Select item 253458	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253438	GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	RRAGB, RS1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253432	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	ARL13A, ARMCX1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253389	GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	HDAC6, HTATSF1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253376	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic

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Items: 33