ClinVar for Gene (Select 331) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3471137	NM_001167.4(XIAP):c.1072A>G (p.Lys358Glu)	XIAP (K358E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3393339	NM_001167.4(XIAP):c.311A>C (p.Gln104Pro)	XIAP (Q104P)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GUncertain significance
Select item 3391958	GRCh37/hg19 Xq21.32-26.1(chrX:92712119-129831493)x1	ACSL4, ACTRT1 +191 more	Copy number loss	not provided	GPathogenic
Select item 3380752	NM_001167.4(XIAP):c.663G>T (p.Arg221Ser)	XIAP (R221S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370387	GRCh38/hg38 Xq24-25(chrX:119043046-123885987)x2	AKAP14, ATP1B4 +108 more	Copy number gain	Intellectual disability	GPathogenic
Select item 3366901	NC_000023.10:g.(?_54610638)_(154689386_?)dup	IGBP1, IGSF1 +526 more	Duplication	Hereditary factor VIII deficiency disease	GUncertain significance
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	GLikely pathogenic
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 3337747	NM_001167.4(XIAP):c.1057-2A>G	XIAP	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 3255351	NM_001167.4(XIAP):c.1057-600_1300+79del	XIAP	Deletion (splice acceptor variant +1 more)	X-linked lymphoproliferative disease due to XIAP deficiency	GPathogenic
Select item 3255350	NM_001167.4(XIAP):c.969G>A (p.Trp323Ter)	XIAP (W323*)	Single nucleotide variant (nonsense +1 more)	X-linked lymphoproliferative disease due to XIAP deficiency	GPathogenic
Select item 3246418	NC_000023.10:g.(?_122617542)_(123834035_?)dup	GRIA3, SH2D1A +4 more	Duplication	not provided	GPathogenic
Select item 3246365	NC_000023.10:g.(?_122387134)_(123234447_?)dup	GRIA3, STAG2 +2 more	Duplication	not provided	GUncertain significance
Select item 3244585	NC_000023.10:g.(?_123019513)_(123034563_?)dup	XIAP	Duplication	X-linked lymphoproliferative disease due to XIAP deficiency	GUncertain significance
Select item 3244573	NC_000023.10:g.(?_122459857)_(123020409_?)dup	GRIA3, THOC2 +1 more	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 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3148864	GRCh37/hg19 Xq25-28(chrX:121656905-155233098)x1	SLITRK2, SLITRK4 +221 more	Copy number loss	not provided	GPathogenic
Select item 3068635	NM_001167.4(XIAP):c.985del (p.Tyr329fs)	XIAP (Y329fs)	Deletion (frameshift variant +1 more)	X-linked lymphoproliferative disease due to XIAP deficiency	GPathogenic
Select item 3068467	NM_001167.4(XIAP):c.542C>T (p.Pro181Leu)	XIAP (P181L)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GLikely pathogenic
Select item 3062491	GRCh37/hg19 Xq24-28(chrX:119395676-154930047)	TAFAZZIN, TENM1 +241 more	Copy number loss	not specified	GPathogenic
Select item 3062473	GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731)	ABCD1, ACSL4 +321 more	Copy number loss	not specified	GPathogenic
Select item 3054481	NM_001167.4(XIAP):c.1167T>A (p.Ile389=)	XIAP	Single nucleotide variant (synonymous variant +1 more)	XIAP-related disorder	GLikely benign
Select item 3030905	NM_001167.4(XIAP):c.5178_5180del	XIAP	Deletion (3 prime UTR variant +1 more)	XIAP-related disorder	GLikely benign
Select item 3024656	GRCh37/hg19 Xq25(chrX:122744787-123234447)x2	STAG2, THOC2 +1 more	Copy number gain	not provided	GPathogenic
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	CT47A4, ERCC6L +488 more	Copy number gain	not provided	GPathogenic
Select item 3013203	NM_001167.4(XIAP):c.410C>G (p.Ala137Gly)	XIAP (A137G)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GUncertain significance
Select item 3005786	NM_001167.4(XIAP):c.746A>G (p.Asn249Ser)	XIAP (N249S)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GUncertain significance
Select item 2996254	NM_001167.4(XIAP):c.1100-8del	XIAP	Deletion (intron variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GBenign
Select item 2975529	NM_001167.4(XIAP):c.1207A>G (p.Asn403Asp)	XIAP (N403D)	Single nucleotide variant (missense variant +1 more)	X-linked lymphoproliferative disease due to XIAP deficiency	GUncertain significance
Select item 2909635	NM_001167.4(XIAP):c.1452C>T (p.Cys484=)	XIAP	Single nucleotide variant (synonymous variant +1 more)	X-linked lymphoproliferative disease due to XIAP deficiency	GLikely benign
Select item 2907668	NM_001167.4(XIAP):c.977+4A>G	XIAP	Single nucleotide variant (intron variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GUncertain significance
Select item 2904537	NM_001167.4(XIAP):c.1301-6_1301-5del	XIAP	Deletion (intron variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GLikely benign
Select item 2898410	NM_001167.4(XIAP):c.588C>T (p.Asp196=)	XIAP	Single nucleotide variant (synonymous variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GLikely benign
Select item 2893549	NM_001167.4(XIAP):c.1090A>G (p.Arg364Gly)	XIAP (R364G)	Single nucleotide variant (missense variant +1 more)	X-linked lymphoproliferative disease due to XIAP deficiency	GUncertain significance
Select item 2876306	NM_001167.4(XIAP):c.369C>T (p.Ser123=)	XIAP	Single nucleotide variant (synonymous variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GLikely benign
Select item 2870796	NM_001167.4(XIAP):c.61G>A (p.Glu21Lys)	XIAP (E21K)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GUncertain significance
Select item 2867274	NM_001167.4(XIAP):c.481del (p.Tyr161fs)	XIAP (Y161fs)	Deletion (frameshift variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GPathogenic
Select item 2852144	NM_001167.4(XIAP):c.1066A>G (p.Thr356Ala)	XIAP (T356A)	Single nucleotide variant (missense variant +1 more)	X-linked lymphoproliferative disease due to XIAP deficiency	GUncertain significance
Select item 2848864	NM_001167.4(XIAP):c.683T>C (p.Phe228Ser)	XIAP (F228S)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GUncertain significance
Select item 2837957	NM_001167.4(XIAP):c.1056+13T>A	XIAP	Single nucleotide variant (intron variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GLikely benign
Select item 2836768	NM_001167.4(XIAP):c.492A>T (p.Glu164Asp)	XIAP (E164D)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GUncertain significance
Select item 2836709	NM_001167.4(XIAP):c.371del (p.Arg124fs)	XIAP (R124fs)	Deletion (frameshift variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GPathogenic
Select item 2832707	NM_001167.4(XIAP):c.804G>A (p.Arg268=)	XIAP	Single nucleotide variant (synonymous variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GLikely benign
Select item 2828929	NM_001167.4(XIAP):c.660C>G (p.His220Gln)	XIAP (H220Q)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GUncertain significance
Select item 2827891	NM_001167.4(XIAP):c.1300+10G>T	XIAP	Single nucleotide variant (intron variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GLikely benign
Select item 2823021	NM_001167.4(XIAP):c.124G>A (p.Val42Ile)	XIAP (V42I)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GUncertain significance
Select item 2822565	NM_001167.4(XIAP):c.140T>C (p.Leu47Pro)	XIAP (L47P)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GUncertain significance
Select item 2812929	NM_001167.4(XIAP):c.209T>G (p.Val70Gly)	XIAP (V70G)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GUncertain significance
Select item 2810790	NM_001167.4(XIAP):c.1057-20A>G	XIAP	Single nucleotide variant (intron variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GLikely benign
Select item 2805091	NM_001167.4(XIAP):c.722C>T (p.Ser241Phe)	XIAP (S241F)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GUncertain significance
Select item 2800593	NM_001167.4(XIAP):c.249C>T (p.His83=)	XIAP	Single nucleotide variant (synonymous variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GLikely benign
Select item 2778425	NM_001167.4(XIAP):c.1300+12T>G	XIAP	Single nucleotide variant (intron variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GLikely benign
Select item 2755365	NM_001167.4(XIAP):c.445A>G (p.Ile149Val)	XIAP (I149V)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to XIAP deficiency +1 more	GUncertain significance
Select item 2754094	NM_001167.4(XIAP):c.1380C>T (p.Ile460=)	XIAP	Single nucleotide variant (synonymous variant +1 more)	X-linked lymphoproliferative disease due to XIAP deficiency	GLikely benign
Select item 2747486	NM_001167.4(XIAP):c.659A>G (p.His220Arg)	XIAP (H220R)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GUncertain significance
Select item 2723066	NM_001167.4(XIAP):c.104A>G (p.Asn35Ser)	XIAP (N35S)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GUncertain significance
Select item 2721191	NM_001167.4(XIAP):c.491A>G (p.Glu164Gly)	XIAP (E164G)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GLikely benign
Select item 2703406	NM_001167.4(XIAP):c.934C>T (p.Pro312Ser)	XIAP (P312S)	Single nucleotide variant (missense variant +1 more)	X-linked lymphoproliferative disease due to XIAP deficiency	GUncertain significance
Select item 2701587	NM_001167.4(XIAP):c.693G>A (p.Leu231=)	XIAP	Single nucleotide variant (synonymous variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GUncertain significance
Select item 2700917	NM_001167.4(XIAP):c.664_665insTGTC (p.Arg222fs)	XIAP (R222fs)	Insertion (frameshift variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GPathogenic
Select item 2696244	NM_001167.4(XIAP):c.251G>C (p.Arg84Thr)	XIAP (R84T)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GUncertain significance
Select item 2695132	NM_001167.4(XIAP):c.1259A>G (p.Asp420Gly)	XIAP (D420G)	Single nucleotide variant (missense variant +1 more)	X-linked lymphoproliferative disease due to XIAP deficiency	GUncertain significance
Select item 2685764	GRCh37/hg19 Xq25(chrX:122631173-123250498)x2	STAG2, THOC2 +1 more	Copy number gain	not provided	GLikely pathogenic
Select item 2685761	GRCh37/hg19 Xq23-25(chrX:110921170-124327177)x2	AGTR2, AKAP14 +66 more	Copy number gain	not provided	GPathogenic
Select item 2685718	GRCh37/hg19 Xq24-28(chrX:119071609-155233731)x1	ABCD1, ACTRT1 +246 more	Copy number loss	not provided	GPathogenic
Select item 2685717	GRCh37/hg19 Xq24-28(chrX:118576752-155233731)x1	ABCD1, ACTRT1 +258 more	Copy number loss	not provided	GPathogenic
Select item 2685715	GRCh37/hg19 Xq21.31-25(chrX:91274467-126799984)x1	ACSL4, AGTR2 +175 more	Copy number loss	not provided	GPathogenic
Select item 2685007	GRCh37/hg19 Xq24-25(chrX:120750703-124254005)x3	GRIA3, SH2D1A +4 more	Copy number gain	not provided	GPathogenic
Select item 2661352	NM_001167.4(XIAP):c.1142G>A (p.Arg381Gln)	XIAP (R381Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2661351	NM_001167.4(XIAP):c.643C>A (p.Arg215Ser)	XIAP (R215S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2632354	NM_001167.4(XIAP):c.977+1G>A	XIAP	Single nucleotide variant (splice donor variant)	XIAP-related disorder	GLikely pathogenic
Select item 2548822	NM_001167.4(XIAP):c.84T>G (p.Asn28Lys)	XIAP (N28K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539022	NM_001167.4(XIAP):c.668A>G (p.His223Arg)	XIAP (H223R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2466691	NM_001167.4(XIAP):c.1189A>G (p.Ile397Val)	XIAP (I397V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2429178	NM_001167.4(XIAP):c.616_622delinsC (p.Lys206_Lys208delinsGln)	XIAP	Indel (inframe_indel)	not specified	GUncertain significance
Select item 2423915	NC_000023.10:g.(?_123019513)_(123041031_?)dup	XIAP	Duplication	X-linked lymphoproliferative disease due to XIAP deficiency	GUncertain significance
Select item 2423583	NC_000023.10:g.(?_123025068)_(123164995_?)dup	STAG2, XIAP	Duplication	not provided	GUncertain significance
Select item 2423412	NC_000023.10:g.(?_122318388)_(123505241_?)dup	GRIA3, SH2D1A +3 more	Duplication	not provided	GUncertain significance
Select item 2415019	NM_001167.4(XIAP):c.965A>G (p.Lys322Arg)	XIAP (K322R)	Single nucleotide variant (missense variant +1 more)	X-linked lymphoproliferative disease due to XIAP deficiency	GUncertain significance
Select item 2337690	NM_001167.4(XIAP):c.425G>C (p.Arg142Thr)	XIAP (R142T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312828	NM_001167.4(XIAP):c.4A>G (p.Thr2Ala)	XIAP (T2A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2199152	NM_001167.4(XIAP):c.1257A>G (p.Lys419=)	XIAP	Single nucleotide variant (synonymous variant +1 more)	X-linked lymphoproliferative disease due to XIAP deficiency	GLikely benign
Select item 2191704	NM_001167.4(XIAP):c.978-6G>A	XIAP	Single nucleotide variant (intron variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GLikely benign
Select item 2188656	NM_001167.4(XIAP):c.471C>T (p.Asn157=)	XIAP	Single nucleotide variant (synonymous variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GBenign
Select item 2187477	NM_001167.4(XIAP):c.643C>T (p.Arg215Cys)	XIAP (R215C)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GUncertain significance
Select item 2175247	NM_001167.4(XIAP):c.261C>T (p.Ser87=)	XIAP	Single nucleotide variant (synonymous variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GLikely benign
Select item 2152351	NM_001167.4(XIAP):c.1358G>A (p.Cys453Tyr)	XIAP (C453Y)	Single nucleotide variant (missense variant +1 more)	X-linked lymphoproliferative disease due to XIAP deficiency	GUncertain significance
Select item 2146388	NM_001167.4(XIAP):c.134C>T (p.Ser45Leu)	XIAP (S45L)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GBenign
Select item 2142682	NM_001167.4(XIAP):c.1428A>C (p.Glu476Asp)	XIAP (E476D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2138713	NM_001167.4(XIAP):c.145C>T (p.Arg49Ter)	XIAP (R49*)	Single nucleotide variant (nonsense)	X-linked lymphoproliferative disease due to XIAP deficiency	GPathogenic
Select item 2124901	NM_001167.4(XIAP):c.1099G>A (p.Asp367Asn)	XIAP (D367N)	Single nucleotide variant (missense variant +1 more)	X-linked lymphoproliferative disease due to XIAP deficiency	GUncertain significance
Select item 2116897	NM_001167.4(XIAP):c.408T>C (p.His136=)	XIAP	Single nucleotide variant (synonymous variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GLikely benign
Select item 2083409	NM_001167.4(XIAP):c.807C>G (p.Ile269Met)	XIAP (I269M)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GBenign
Select item 2079561	NM_001167.4(XIAP):c.666A>G (p.Arg222=)	XIAP	Single nucleotide variant (synonymous variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GLikely benign
Select item 2079171	NM_001167.4(XIAP):c.1299A>G (p.Lys433=)	XIAP	Single nucleotide variant (synonymous variant +1 more)	X-linked lymphoproliferative disease due to XIAP deficiency	GBenign
Select item 2067973	NM_001167.4(XIAP):c.1122T>C (p.Pro374=)	XIAP	Single nucleotide variant (synonymous variant +1 more)	X-linked lymphoproliferative disease due to XIAP deficiency	GBenign

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