ClinVar for Gene (Select 83692) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 211

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2685725	GRCh37/hg19 Xq28(chrX:149650839-149937387)x1	CD99L2, MAMLD1 +2 more	Copy number loss	not provided	GPathogenic
Select item 2685724	GRCh37/hg19 Xq28(chrX:148598351-154943978)x1	ABCD1, ARHGAP4 +110 more	Copy number loss	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 2661639	NM_031462.4(CD99L2):c.189G>A (p.Pro63=)	CD99L2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2661638	NM_031462.4(CD99L2):c.732C>T (p.Ser244=)	CD99L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2602865	NM_031462.4(CD99L2):c.176C>T (p.Thr59Ile)	CD99L2 (T59I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2514313	NM_031462.4(CD99L2):c.463G>T (p.Gly155Trp)	CD99L2 (G106W +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 2497748	GRCh37/hg19 Xq27.1-28(chrX:139586015-154774957)	ABCD1, AFF2 +140 more	Copy number gain	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 2490542	NM_031462.4(CD99L2):c.397G>A (p.Asp133Asn)	CD99L2 (D133N +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2423473	NC_000023.10:g.(?_149613783)_(150573536_?)dup	CD99L2, GPR50 +6 more	Duplication	X-linked myopathy with excessive autophagy	GUncertain significance
Select item 2422668	NC_000023.10:g.(?_149613783)_(150573536_?)del	CD99L2, GPR50 +6 more	Deletion	X-linked myopathy with excessive autophagy +1 more	GConflicting classifications of pathogenicity
Select item 2402451	NM_031462.4(CD99L2):c.302C>T (p.Thr101Met)	CD99L2 (T101M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2372869	NM_031462.4(CD99L2):c.604G>A (p.Val202Ile)	CD99L2 (V130I +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2367702	NM_031462.4(CD99L2):c.518A>G (p.Asn173Ser)	CD99L2 (N124S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2367160	NM_031462.4(CD99L2):c.676G>A (p.Val226Met)	CD99L2 (V177M +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346681	NM_031462.4(CD99L2):c.311G>A (p.Arg104Lys)	CD99L2 (R55K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2342255	NM_031462.4(CD99L2):c.506G>A (p.Arg169Gln)	CD99L2 (R97Q +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321635	NM_031462.4(CD99L2):c.172G>A (p.Gly58Arg)	CD99L2 (G58R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2315584	NM_031462.4(CD99L2):c.703G>A (p.Val235Ile)	CD99L2 (V245I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277899	NM_031462.4(CD99L2):c.764C>T (p.Pro255Leu)	CD99L2 (P255L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277253	NM_031462.4(CD99L2):c.203-9C>A	CD99L2 (P69H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2270761	NM_031462.4(CD99L2):c.385A>G (p.Asn129Asp)	CD99L2 (N129D +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2265329	NM_031462.4(CD99L2):c.682G>A (p.Gly228Arg)	CD99L2 (G156R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207388	NM_031462.4(CD99L2):c.290A>G (p.His97Arg)	CD99L2 (H48R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2205055	NM_031462.4(CD99L2):c.700G>A (p.Val234Met)	CD99L2 (V161M +4 more)	Single nucleotide variant (missense variant)	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 1710916	GRCh37/hg19 Xq27.3-28(chrX:142401540-155233731)x1	ABCD1, BCAP31 +129 more	Copy number loss	See cases	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 1678205	NM_031462.4(CD99L2):c.726A>T (p.Lys242Asn)	CD99L2 (K169N +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1526863	GRCh37/hg19 Xq27.3-28(chrX:146752853-150192253)	AFF2, CD99L2 +17 more	Copy number loss	not specified	GPathogenic
Select item 1342311	Single allele	ABCD1, AFF2 +337 more	Duplication	Syndromic X-linked intellectual disability Lubs type	GPathogenic
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 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	CXorf49B, CXorf51A +821 more	Copy number loss	not provided	GPathogenic
Select item 1077156	GRCh38/hg38 Xq27.3-28(chrX:145728205-150464413)x1	LOC130068788, LOC130068789 +104 more	Copy number loss	Mucopolysaccharidosis, MPS-II	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 980887	GRCh37/hg19 Xq28(chrX:149747506-150037141)x3	CD99L2, MTM1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 979836	GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1	ABCD1, ACSL4 +387 more	Copy number loss	not provided	GPathogenic
Select item 979241	GRCh37/hg19 Xq28(chrX:149702307-149971697)x3	MTMR1, CD99L2 +1 more	Copy number gain	not provided	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 831242	NC_000023.10:g.(?_149761067)_(150573540_?)dup	CD99L2, GPR50 +5 more	Duplication	Severe X-linked myotubular myopathy	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 764770	NM_031462.4(CD99L2):c.782G>A (p.Arg261Gln)	CD99L2 (R189Q +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 746998	NM_031462.4(CD99L2):c.759G>A (p.Pro253=)	CD99L2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 732081	NM_031462.4(CD99L2):c.523G>A (p.Asp175Asn)	CD99L2 (D175N +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 688406	GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1	ABCD1, ACTRT1 +220 more	Copy number loss	not provided	GPathogenic
Select item 688190	GRCh37/hg19 Xq28(chrX:149838580-150125188)x2	CD99L2, MTM1 +1 more	Copy number gain	not provided	GUncertain significance
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 685354	GRCh37/hg19 Xq28(chrX:150046358-150080894)x3	CD99L2	Copy number gain	not provided	GUncertain significance
Select item 685331	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	ZNF275, ZNF280C +821 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	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 564913	GRCh37/hg19 Xq27.2-28(chrX:140388077-155233731)x3	ABCD1, AFF2 +136 more	Copy number gain	not provided	GPathogenic
Select item 564912	GRCh37/hg19 Xq27.1-28(chrX:139504488-155233731)x1	ABCD1, AFF2 +141 more	Copy number loss	not provided	GPathogenic
Select item 564908	GRCh37/hg19 Xq27.1-28(chrX:138331745-155233731)x1	ABCD1, AFF2 +145 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 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 443724	GRCh37/hg19 Xq27.3-28(chrX:146232592-155233731)x1	ABCD1, AFF2 +121 more	Copy number loss	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 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
Select item 442724	GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1	MAGEE1, MAGEE2 +733 more	Copy number loss	See cases	GPathogenic
Select item 442712	GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1	ABCD1, ACSL4 +385 more	Copy number loss	See cases	GPathogenic
Select item 442646	GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3	ABCB7, ABCD1 +506 more	Copy number gain	See cases	GPathogenic
Select item 442531	GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3	ABCB7, ABCD1 +524 more	Copy number gain	See cases	GPathogenic
Select item 442422	GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1	ABCD1, ACSL4 +394 more	Copy number loss	See cases	GPathogenic
Select item 442321	GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3	ARMCX5-GPRASP2, ARMCX6 +506 more	Copy number gain	See cases	GPathogenic
Select item 442262	GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1	ABCD1, ACTRT1 +267 more	Copy number loss	See cases	GPathogenic
Select item 442001	GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1	ABCD1, ACSL4 +407 more	Copy number loss	See cases	GPathogenic
Select item 395718	GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1	ABCB7, ABCD1 +822 more	Copy number loss	See cases	GPathogenic
Select item 395687	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)	ABCB7, ABCD1 +822 more	Copy number loss	See cases	GPathogenic
Select item 395686	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4	ABCB7, ABCD1 +822 more	Copy number gain	See cases	GPathogenic
Select item 395246	GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1	IRAK1, IRS4 +388 more	Copy number loss	See cases	GPathogenic
Select item 395066	GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1	ABCD1, ACSL4 +315 more	Copy number loss	See cases	GPathogenic
Select item 394706	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3	ABCB7, ABCD1 +822 more	Copy number gain	See cases	GPathogenic

<< First< Prev

Page of 3