ClinVar for Gene (Select 4168) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062561	GRCh37/hg19 Xq26.3-27.3(chrX:137551658-145685497)	ATP11C, CDR1 +21 more	Copy number loss	not specified	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 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	ALG13, AMMECR1 +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 2685016	GRCh37/hg19 Xq27.1(chrX:138565455-139059289)x3	ATP11C, CXorf66 +2 more	Copy number gain	not provided	GUncertain significance
Select item 2661531	NM_001171876.2(MCF2):c.1372-3C>T	MCF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2615376	NM_001171876.2(MCF2):c.1927T>G (p.Cys643Gly)	MCF2 (C627G +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613456	NM_001171876.2(MCF2):c.1168C>T (p.Leu390Phe)	MCF2 (L291F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2570691	NM_001171876.2(MCF2):c.2462G>T (p.Gly821Val)	MCF2 (G821V +4 more)	Single nucleotide variant (missense variant)	Failure to thrive +1 more	GUncertain significance
Select item 2549511	NM_001171876.2(MCF2):c.2765C>T (p.Ala922Val)	MCF2 (A906V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2548630	NM_001171876.2(MCF2):c.967A>G (p.Asn323Asp)	MCF2 (N323D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545768	NM_001171876.2(MCF2):c.1493C>T (p.Thr498Ile)	MCF2 (T399I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545767	NM_001171876.2(MCF2):c.1183C>T (p.Arg395Cys)	MCF2 (R296C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537628	NM_001171876.2(MCF2):c.548A>T (p.Glu183Val)	MCF2 (E123V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510547	NM_001171876.2(MCF2):c.2906C>T (p.Ala969Val)	MCF2 (A909V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	BMX, CXorf38 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2490339	NM_001171876.2(MCF2):c.733G>A (p.Asp245Asn)	MCF2 (D245N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463243	NM_001171876.2(MCF2):c.2975G>A (p.Arg992Lys)	MCF2 (D842N +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2422400	NC_000023.10:g.(?_138612860)_(138914348_?)dup	ATP11C, MCF2 +1 more	Duplication	Hereditary factor IX deficiency disease +1 more	GUncertain significance
Select item 2411657	NM_001171876.2(MCF2):c.1327A>G (p.Thr443Ala)	MCF2 (T344A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388111	NM_001171876.2(MCF2):c.2993C>G (p.Ala998Gly)	MCF2 (A982G +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386197	NM_001171876.2(MCF2):c.1184G>A (p.Arg395His)	MCF2 (R335H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2384500	NM_001171876.2(MCF2):c.1476C>G (p.Ile492Met)	MCF2 (I393M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367520	NM_001171876.2(MCF2):c.1709T>C (p.Val570Ala)	MCF2 (V494A +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363539	NM_001171876.2(MCF2):c.2053G>A (p.Ala685Thr)	MCF2 (A609T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330051	NM_001171876.2(MCF2):c.1654G>A (p.Glu552Lys)	MCF2 (E437K +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328211	NM_001171876.2(MCF2):c.2149T>G (p.Leu717Val)	MCF2 (L602V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319035	NM_001171876.2(MCF2):c.2223G>A (p.Met741Ile)	MCF2 (M681I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298494	NM_001171876.2(MCF2):c.539C>T (p.Ala180Val)	MCF2 (A180V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288820	NM_001171876.2(MCF2):c.491C>A (p.Thr164Lys)	MCF2 (T104K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283653	NM_001171876.2(MCF2):c.1877C>A (p.Ala626Glu)	MCF2 (A511E +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282707	NM_001171876.2(MCF2):c.1483G>A (p.Val495Met)	MCF2 (V396M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259045	NM_001171876.2(MCF2):c.391A>G (p.Ile131Val)	MCF2 (I131V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	MIR224, MIR424 +793 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	CT55, CT83 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703584	GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731)	H2AB3, H2BW1 +502 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +822 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	SCML2, SEPTIN6 +822 more	Copy number gain	Hypotonia +2 more	GPathogenic
Select item 1526858	GRCh37/hg19 Xq27.1(chrX:138222220-139000317)	ATP11C, F9 +2 more	Copy number gain	not specified	GUncertain significance
Select item 1341233	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	CXorf51B, GAGE12H +821 more	Copy number loss	not provided	GPathogenic
Select item 1341223	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	ABCB7, ABCD1 +821 more	Copy number gain	not provided	GPathogenic
Select item 1294008	NM_001171876.2(MCF2):c.2469C>T (p.Asp823=)	MCF2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	CXorf49B, CXorf51A +821 more	Copy number loss	not provided	GPathogenic
Select item 992648	GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3	ABCB7, ABCD1 +510 more	Copy number gain	not provided	GPathogenic
Select item 983156	GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3	ABCB7, ABCD1 +514 more	Copy number gain	See cases	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 916135	GRCh37/hg19 Xq25-28(chrX:122132166-155097214)	APLN, ABCD1 +221 more	Copy number loss	Intellectual disability	GLikely pathogenic
Select item 816396	GRCh37/hg19 Xq27.1(chrX:138739715-139210619)x2	ATP11C, MCF2 +1 more	Copy number gain	not provided	GUncertain significance
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 790248	NM_001171876.2(MCF2):c.297G>A (p.Thr99=)	MCF2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 790247	NM_001171876.2(MCF2):c.2354G>T (p.Gly785Val)	MCF2 (G670V +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 789872	NM_001171876.2(MCF2):c.352-5T>C	MCF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 777846	NM_001171876.2(MCF2):c.1372-5C>T	MCF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 777845	NM_001171876.2(MCF2):c.2591T>C (p.Ile864Thr)	MCF2 (I848T +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 777844	NM_001171876.2(MCF2):c.*15C>G	MCF2 (S857* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 771945	NM_001171876.2(MCF2):c.2599-10del	MCF2	Deletion (intron variant)	not provided	GBenign
Select item 712339	NM_001171876.2(MCF2):c.1117G>A (p.Glu373Lys)	MCF2 (E313K +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 711788	NM_001171876.2(MCF2):c.909A>G (p.Glu303=)	MCF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 710789	NM_001171876.2(MCF2):c.1279G>A (p.Glu427Lys)	MCF2 (E367K +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 688458	GRCh37/hg19 Xq27.1-28(chrX:138120235-147240344)x2	ATP11C, CDR1 +31 more	Copy number gain	not provided	GPathogenic
Select item 688457	GRCh37/hg19 Xq27.1(chrX:138655347-139306763)x2	ATP11C, CXorf66 +1 more	Copy number gain	not provided	GUncertain significance
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	RBMXL3, RENBP +821 more	Copy number loss	not provided	GPathogenic
Select item 687519	GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1	RBMX2, RBMXL3 +525 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	AMOT, APLN +503 more	Copy number loss	not provided	GPathogenic
Select item 685331	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	ZNF275, ZNF280C +821 more	Copy number gain	not provided	GPathogenic
Select item 685181	GRCh37/hg19 Xq27.1(chrX:138377936-138702368)x2	F9, MCF2	Copy number gain	not provided	GUncertain significance
Select item 684964	GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1	AIFM1, CXorf51A +389 more	Copy number loss	not provided	GPathogenic
Select item 665638	NC_000023.10:g.(?_138612860)_(139587225_?)del	MCF2, ATP11C +3 more	Deletion	Thrombophilia, X-linked, due to factor 9 defect +1 more	GPathogenic
Select item 626291	Single allele	PAGE2B, PAGE3 +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 625671	GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945)	ABCD1, ADGRG4 +160 more	Copy number gain	not provided	GPathogenic
Select item 564910	GRCh37/hg19 Xq27.1(chrX:138769551-139108503)x3	CXorf66, ATP11C +1 more	Copy number gain	not provided	GUncertain significance
Select item 564909	GRCh37/hg19 Xq27.1(chrX:138575424-139059289)x2	MCF2, ATP11C +2 more	Copy number gain	not provided	GUncertain significance
Select item 564908	GRCh37/hg19 Xq27.1-28(chrX:138331745-155233731)x1	ABCD1, AFF2 +145 more	Copy number loss	not provided	GPathogenic
Select item 564907	GRCh37/hg19 Xq27.1(chrX:138325952-138931001)x3	MCF2, F9 +1 more	Copy number gain	not provided	GUncertain significance
Select item 564906	GRCh37/hg19 Xq27.1(chrX:138126026-138891563)x2	FGF13, F9 +2 more	Copy number gain	not provided	GUncertain significance
Select item 564905	GRCh37/hg19 Xq26.3-27.1(chrX:136399075-139504489)x1	ZIC3, MCF2 +4 more	Copy number loss	not provided	GUncertain significance
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
Select item 488014	Single allele	ARMCX3, CT47A11 +2631 more	Duplication	Autism +1 more	GPathogenic
Select item 443974	GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731)	ABCB7, ABCD1 +821 more	Copy number gain	See cases	GPathogenic
Select item 443630	GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1	ABCD1, ACTRT1 +278 more	Copy number loss	See cases	GPathogenic
Select item 443504	GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1	ZCCHC12, ZCCHC13 +698 more	Copy number loss	See cases	GPathogenic
Select item 443017	GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3	ABCB7, ABCD1 +510 more	Copy number gain	See cases	GPathogenic
Select item 442965	GRCh37/hg19 Xq26.3-28(chrX:133944147-155233731)x3	ABCD1, ADGRG4 +175 more	Copy number gain	See cases	GPathogenic
Select item 442946	GRCh37/hg19 Xq27.1-27.2(chrX:138768091-140805967)x3	ATP11C, CDR1 +9 more	Copy number gain	See cases	GLikely benign
Select item 442945	GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1	RENBP, RHOXF1 +411 more	Copy number loss	See cases	GPathogenic
Select item 442821	GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3	ACSL4, ACTRT1 +303 more	Copy number gain	See cases	GUncertain significance

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