ClinVar for Gene (Select 7512) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370382	GRCh38/hg38 Xq25-26.1(chrX:128513670-130118616)x2	APLN, BCORL1 +57 more	Copy number gain	Intellectual disability	GUncertain significance
Select item 3366901	NC_000023.10:g.(?_54610638)_(154689386_?)dup	ABCB7, ABCD1 +526 more	Duplication	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 3333474	NM_003399.6(XPNPEP2):c.1358G>A (p.Gly453Glu)	XPNPEP2 (G453E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245284	NC_000023.10:g.(?_128674417)_(128975921_?)del	APLN, OCRL +3 more	Deletion	Syndromic X-linked intellectual disability Raymond type	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 3191222	NM_003399.6(XPNPEP2):c.925C>T (p.Arg309Cys)	XPNPEP2 (R309C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191221	NM_003399.6(XPNPEP2):c.842G>A (p.Arg281His)	XPNPEP2 (R281H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191220	NM_003399.6(XPNPEP2):c.7C>T (p.Arg3Trp)	XPNPEP2 (R3W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3191219	NM_003399.6(XPNPEP2):c.659T>C (p.Val220Ala)	XPNPEP2 (V220A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191218	NM_003399.6(XPNPEP2):c.593C>T (p.Pro198Leu)	XPNPEP2 (P198L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191217	NM_003399.6(XPNPEP2):c.515C>A (p.Ala172Asp)	XPNPEP2 (A172D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191216	NM_003399.6(XPNPEP2):c.418A>G (p.Ile140Val)	XPNPEP2 (I140V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191215	NM_003399.6(XPNPEP2):c.1573G>A (p.Gly525Ser)	XPNPEP2 (G525S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191214	NM_003399.6(XPNPEP2):c.1442G>A (p.Arg481His)	XPNPEP2 (R481H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191213	NM_003399.6(XPNPEP2):c.1232C>T (p.Ser411Phe)	XPNPEP2 (S411F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3148884	GRCh37/hg19 Xq25-28(chrX:125253445-155233098)x1	PRR32, ABCD1 +215 more	Copy number loss	See cases	GPathogenic
Select item 3148864	GRCh37/hg19 Xq25-28(chrX:121656905-155233098)x1	SLITRK2, SLITRK4 +221 more	Copy number loss	not provided	GPathogenic
Select item 3068010	NM_003399.6(XPNPEP2):c.748A>C (p.Asn250His)	XPNPEP2 (N250H)	Single nucleotide variant (missense variant)	Susceptibility to angioedema induced by ACE inhibitors	GUncertain significance
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 3026263	NM_003399.6(XPNPEP2):c.259G>C (p.Glu87Gln)	XPNPEP2 (E87Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	CT47A5, NXF3 +488 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 2661401	NM_003399.6(XPNPEP2):c.1854C>T (p.Tyr618=)	XPNPEP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661400	NM_003399.6(XPNPEP2):c.1815G>A (p.Leu605=)	XPNPEP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661399	NM_003399.6(XPNPEP2):c.1624A>C (p.Asn542His)	XPNPEP2 (N542H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2661398	NM_003399.6(XPNPEP2):c.1188G>A (p.Ser396=)	XPNPEP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661397	NM_003399.6(XPNPEP2):c.858C>T (p.Thr286=)	XPNPEP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661396	NM_003399.6(XPNPEP2):c.543G>T (p.Val181=)	XPNPEP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661395	NM_003399.6(XPNPEP2):c.404-8T>C	XPNPEP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2618600	NM_003399.6(XPNPEP2):c.374T>A (p.Met125Lys)	XPNPEP2 (M125K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533123	NM_003399.6(XPNPEP2):c.1540G>A (p.Ala514Thr)	XPNPEP2 (A514T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522788	NM_003399.6(XPNPEP2):c.1486G>A (p.Ala496Thr)	XPNPEP2 (A496T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509108	NM_003399.6(XPNPEP2):c.1223A>T (p.Glu408Val)	XPNPEP2 (E408V)	Single nucleotide variant (missense variant)	not specified	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 2490434	NM_003399.6(XPNPEP2):c.1511A>C (p.Glu504Ala)	XPNPEP2 (E504A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490183	NM_003399.6(XPNPEP2):c.1276G>T (p.Ala426Ser)	XPNPEP2 (A426S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466500	NM_003399.6(XPNPEP2):c.995G>A (p.Gly332Glu)	XPNPEP2 (G332E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426260	NC_000023.10:g.(?_128674417)_(129299630_?)del	AIFM1, APLN +7 more	Deletion	Syndromic X-linked intellectual disability Raymond type +2 more	GConflicting classifications of pathogenicity
Select item 2422786	NC_000023.10:g.(?_128674417)_(128975921_?)dup	APLN, OCRL +3 more	Duplication	Lowe syndrome	GUncertain significance
Select item 2402639	NM_003399.6(XPNPEP2):c.1865G>A (p.Arg622Gln)	XPNPEP2 (R622Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382255	NM_003399.6(XPNPEP2):c.709G>A (p.Val237Ile)	XPNPEP2 (V237I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380775	NM_003399.6(XPNPEP2):c.1192G>A (p.Ala398Thr)	XPNPEP2 (A398T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355346	NM_003399.6(XPNPEP2):c.2003C>T (p.Ala668Val)	XPNPEP2 (A668V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332044	NM_003399.6(XPNPEP2):c.1214G>A (p.Arg405Gln)	XPNPEP2 (R405Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326482	NM_003399.6(XPNPEP2):c.121C>G (p.Pro41Ala)	XPNPEP2 (P41A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312863	NM_003399.6(XPNPEP2):c.1412C>T (p.Pro471Leu)	XPNPEP2 (P471L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290053	NM_003399.6(XPNPEP2):c.1349A>C (p.Asp450Ala)	XPNPEP2 (D450A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288248	NM_003399.6(XPNPEP2):c.473C>T (p.Pro158Leu)	XPNPEP2 (P158L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2287574	NM_003399.6(XPNPEP2):c.1762T>G (p.Phe588Val)	XPNPEP2 (F588V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271492	NM_003399.6(XPNPEP2):c.1027G>A (p.Val343Met)	XPNPEP2 (V343M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256807	NM_003399.6(XPNPEP2):c.1220A>T (p.Glu407Val)	XPNPEP2 (E407V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234936	NM_003399.6(XPNPEP2):c.712C>A (p.Leu238Ile)	XPNPEP2 (L238I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808722	GRCh37/hg19 Xq25-28(chrX:124749464-155233731)x1	ABCD1, ACTRT1 +216 more	Copy number loss	not provided	GPathogenic
Select item 1807959	GRCh37/hg19 Xq25-26.1(chrX:127753972-129202285)x2	SASH3, APLN +7 more	Copy number gain	not provided	GUncertain significance
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	ABCB7, ABCD1 +790 more	Copy number loss	See cases	GPathogenic
Select item 1706520	GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1	NXF5, NXT2 +414 more	Copy number loss	See cases	GPathogenic
Select item 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703584	GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731)	ABCB7, ABCD1 +501 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +819 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	AKAP14, CT47A11 +819 more	Copy number gain	Hypotonia +2 more	GPathogenic
Select item 1526848	GRCh37/hg19 Xq25-26.2(chrX:126307810-131646710)	ACTRT1, AIFM1 +22 more	Copy number gain	not specified	GPathogenic
Select item 1341233	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	RADX, RAI2 +818 more	Copy number loss	not provided	GPathogenic
Select item 1341223	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	GPM6B, KLHL15 +818 more	Copy number gain	not provided	GPathogenic
Select item 1258651	NM_003399.6(XPNPEP2):c.*163C>A	XPNPEP2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1252667	NM_003399.6(XPNPEP2):c.50-106G>A	XPNPEP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183667	NM_003399.6(XPNPEP2):c.50-283C>T	XPNPEP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	KLHL34, KLHL4 +818 more	Copy number loss	not provided	GPathogenic
Select item 1050214	NM_003399.6(XPNPEP2):c.274A>G (p.Ile92Val)	XPNPEP2 (I92V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1050044	NM_003399.6(XPNPEP2):c.349T>C (p.Tyr117His)	XPNPEP2 (Y117H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 992648	GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3	CPXCR1, GABRE +509 more	Copy number gain	not provided	GPathogenic
Select item 983156	GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3	ARMCX4, CXorf51B +513 more	Copy number gain	See cases	GPathogenic
Select item 980319	GRCh37/hg19 Xq24-26.1(chrX:117120780-129850994)x3	C1GALT1C1, CT47A1 +69 more	Copy number gain	not provided	GPathogenic
Select item 979836	GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1	ABCD1, ACSL4 +387 more	Copy number loss	not provided	GPathogenic
Select item 929786	NM_003399.6(XPNPEP2):c.1081G>A (p.Glu361Lys)	XPNPEP2 (E361K)	Single nucleotide variant (missense variant)	Premature ovarian failure	GUncertain significance
Select item 916135	GRCh37/hg19 Xq25-28(chrX:122132166-155097214)	APLN, ABCD1 +221 more	Copy number loss	Intellectual disability	GLikely pathogenic
Select item 831120	NC_000023.10:g.(?_128674397)_(128975941_?)dup	APLN, OCRL +3 more	Duplication	Syndromic X-linked intellectual disability Raymond type	GUncertain significance
Select item 816389	GRCh37/hg19 Xq25-26.1(chrX:128194529-129017909)x3	SMARCA1, APLN +4 more	Copy number gain	not provided	GUncertain significance
Select item 816382	GRCh37/hg19 Xq24-26.1(chrX:117119895-129850963)x2	ACTRT1, AIFM1 +69 more	Copy number gain	not provided	GPathogenic
Select item 816368	GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1	ABCD1, ACSL4 +398 more	Copy number loss	not provided	GPathogenic
Select item 816364	GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1	ABCD1, ACSL4 +410 more	Copy number loss	not provided	GPathogenic
Select item 714029	NM_003399.6(XPNPEP2):c.1089C>G (p.Ala363=)	XPNPEP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 688406	GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1	ABCD1, ACTRT1 +220 more	Copy number loss	not provided	GPathogenic
Select item 688137	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	ARHGAP36, ARHGAP4 +818 more	Copy number loss	not provided	GPathogenic
Select item 687519	GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1	AWAT1, AWAT2 +524 more	Copy number loss	not provided	GUncertain significance
Select item 687132	GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1	ABCD1, ACTRT1 +262 more	Copy number loss	not provided	GPathogenic
Select item 686250	GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1	ABCD1, ACSL4 +320 more	Copy number loss	not provided	GPathogenic
Select item 685566	GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1	AWAT2, BCAP31 +502 more	Copy number loss	not provided	GPathogenic
Select item 685331	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	BEX1, BEX2 +818 more	Copy number gain	not provided	GPathogenic
Select item 684964	GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1	AIFM1, CXorf51A +389 more	Copy number loss	not provided	GPathogenic
Select item 626291	Single allele	AKAP14, CCDC22 +733 more	Duplication	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 625854	GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1	ABCD1, ACTRT1 +221 more	Copy number loss	Premature ovarian insufficiency	GLikely pathogenic
Select item 564898	GRCh37/hg19 Xq25-26.3(chrX:126759247-135790885)x1	ACTRT1, CT45A3 +62 more	Copy number loss	not provided	GPathogenic
Select item 564897	GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1	ABCD1, ACTRT1 +214 more	Copy number loss	not provided	GPathogenic
Select item 564891	GRCh37/hg19 Xq24-27.1(chrX:120777368-139345946)x1	CT45A3, UTP14A +79 more	Copy number loss	not provided	GPathogenic
Select item 564888	GRCh37/hg19 Xq24-27.1(chrX:117998704-140159954)x3	ACTRT1, ADGRG4 +122 more	Copy number gain	not provided	GPathogenic
Select item 564884	GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1	FMR1-AS1, FMR1NB +297 more	Copy number loss	not provided	GPathogenic
Select item 564874	GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1	ABCD1, ACSL4 +385 more	Copy number loss	not provided	GPathogenic
Select item 564868	GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1	ABCD1, ACSL4 +390 more	Copy number loss	not provided	GPathogenic

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