ClinVar for Gene (Select 7503) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062482	GRCh37/hg19 Xq11.1-21.1(chrX:61877278-79122848)	ABCB7, AMER1 +92 more	Copy number gain	not specified	GPathogenic
Select item 3062468	GRCh37/hg19 Xq13.1-22.1(chrX:68040342-100863081)	ABCB7, APOOL +121 more	Copy number gain	not specified	GPathogenic
Select item 3056865	NR_001564.2(XIST):n.8678A>G	XIST	Single nucleotide variant (non-coding transcript variant)	XIST-related disorder	GBenign
Select item 3055882	NR_001564.2(XIST):n.2848C>T	XIST	Single nucleotide variant (non-coding transcript variant)	XIST-related disorder	GLikely benign
Select item 3050691	NR_001564.2(XIST):n.2735G>A	XIST	Single nucleotide variant (non-coding transcript variant)	XIST-related disorder	GLikely benign
Select item 3049478	NR_003255.2(TSIX):n.31759T>C	TSIX, XIST	Single nucleotide variant (non-coding transcript variant)	TSIX-related disorder	GBenign
Select item 3048676	NR_001564.2(XIST):n.17820C>T	TSIX, XIST	Single nucleotide variant (non-coding transcript variant)	XIST-related disorder	GLikely benign
Select item 3048329	NR_003255.2(TSIX):n.29983A>C	TSIX, XIST	Single nucleotide variant (non-coding transcript variant)	TSIX-related disorder	GLikely benign
Select item 3045837	NR_001564.2(XIST):n.16120T>A	TSIX, XIST	Single nucleotide variant (non-coding transcript variant)	XIST-related disorder	GBenign
Select item 3045578	NR_001564.2(XIST):n.16850A>C	TSIX, XIST	Single nucleotide variant (non-coding transcript variant)	XIST-related disorder	GBenign
Select item 3045435	NR_001564.2(XIST):n.7933A>G	XIST	Single nucleotide variant (non-coding transcript variant)	XIST-related disorder	GBenign
Select item 3043452	NR_001564.2(XIST):n.6356C>A	XIST	Single nucleotide variant (non-coding transcript variant)	XIST-related disorder	GLikely benign
Select item 3042649	NR_001564.2(XIST):n.18978T>C	TSIX, XIST	Single nucleotide variant (non-coding transcript variant)	XIST-related disorder	GBenign
Select item 3042582	NR_003255.2(TSIX):n.34905G>A	TSIX, XIST	Single nucleotide variant (non-coding transcript variant)	TSIX-related disorder	GLikely benign
Select item 3042415	NR_003255.2(TSIX):n.34874_34875del	TSIX, XIST	Deletion (non-coding transcript variant)	TSIX-related disorder	GLikely benign
Select item 3041924	NR_003255.2(TSIX):n.31258G>A	TSIX, XIST	Single nucleotide variant (non-coding transcript variant)	TSIX-related disorder	GBenign
Select item 3041667	NR_001564.2(XIST):n.6429C>T	XIST	Single nucleotide variant (non-coding transcript variant)	XIST-related disorder	GLikely benign
Select item 3041443	NR_001564.2(XIST):n.2053C>G	XIST	Single nucleotide variant (non-coding transcript variant)	XIST-related disorder	GLikely benign
Select item 3041442	NR_001564.2(XIST):n.10270C>T	XIST	Single nucleotide variant (non-coding transcript variant)	XIST-related disorder	GLikely benign
Select item 3041021	NR_003255.2(TSIX):n.29223T>G	TSIX, XIST	Single nucleotide variant (non-coding transcript variant)	TSIX-related disorder	GLikely benign
Select item 3040534	NR_001564.2(XIST):n.10571T>C	XIST	Single nucleotide variant (non-coding transcript variant)	XIST-related disorder	GLikely benign
Select item 3040467	NR_001564.2(XIST):n.2092A>C	XIST	Single nucleotide variant (non-coding transcript variant)	XIST-related disorder	GLikely benign
Select item 3040456	NR_001564.2(XIST):n.9755C>T	XIST	Single nucleotide variant (non-coding transcript variant)	XIST-related disorder	GLikely benign
Select item 3039573	NR_001564.2(XIST):n.12197G>A	TSIX, XIST	Single nucleotide variant (non-coding transcript variant)	XIST-related disorder	GBenign
Select item 3039382	NR_001564.2(XIST):n.2339G>A	XIST	Single nucleotide variant (non-coding transcript variant)	XIST-related disorder	GBenign
Select item 3039258	NR_001564.2(XIST):n.9928T>C	XIST	Single nucleotide variant (non-coding transcript variant)	XIST-related disorder	GBenign
Select item 3039016	NR_001564.2(XIST):n.10134T>C	XIST	Single nucleotide variant (non-coding transcript variant)	XIST-related disorder	GBenign
Select item 3038835	NR_001564.2(XIST):n.10121A>G	XIST	Single nucleotide variant (non-coding transcript variant)	XIST-related disorder	GBenign
Select item 3038714	NR_003255.1(TSIX):n.28288_28289delAA	XIST	Deletion (non-coding transcript variant)	XIST-related disorder	GLikely benign
Select item 3038685	NR_001564.2(XIST):n.16106del	TSIX, XIST	Deletion (non-coding transcript variant)	XIST-related disorder	GBenign
Select item 3038647	NR_001564.2(XIST):n.4158T>G	XIST	Single nucleotide variant (non-coding transcript variant)	XIST-related disorder	GBenign
Select item 3038410	NR_001564.2(XIST):n.4016A>G	XIST	Single nucleotide variant (non-coding transcript variant)	XIST-related disorder	GLikely benign
Select item 3038264	NR_001564.2(XIST):n.18167A>T	TSIX, XIST	Single nucleotide variant (non-coding transcript variant)	XIST-related disorder	GLikely benign
Select item 3038232	NR_001564.2(XIST):n.2326A>T	XIST	Single nucleotide variant (non-coding transcript variant)	XIST-related disorder	GLikely benign
Select item 3037804	NR_001564.2(XIST):n.649A>T	XIST	Single nucleotide variant (non-coding transcript variant)	XIST-related disorder	GBenign
Select item 3037539	NR_001564.2(XIST):n.4934C>G	XIST	Single nucleotide variant (non-coding transcript variant)	XIST-related disorder	GLikely benign
Select item 3036330	NR_003255.2(TSIX):n.35037G>A	TSIX, XIST	Single nucleotide variant (non-coding transcript variant)	TSIX-related disorder	GLikely benign
Select item 3036287	NR_003255.2(TSIX):n.29775C>T	TSIX, XIST	Single nucleotide variant (non-coding transcript variant)	TSIX-related disorder	GLikely benign
Select item 3035143	NR_001564.2(XIST):n.945G>A	XIST	Single nucleotide variant (non-coding transcript variant)	XIST-related disorder	GBenign
Select item 3034421	NR_003255.1(TSIX):n.19801_19802delAC	XIST	Deletion (non-coding transcript variant)	XIST-related disorder	GLikely benign
Select item 3034118	NR_001564.2(XIST):n.5093A>G	XIST	Single nucleotide variant (non-coding transcript variant)	XIST-related disorder	GBenign
Select item 3032664	NR_003255.1(TSIX):n.18379_18389delTGTATCCTGGC	XIST	Deletion (non-coding transcript variant)	XIST-related disorder	GLikely benign
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	TMEM31, TMEM35A +488 more	Copy number gain	not provided	GPathogenic
Select item 2684993	GRCh37/hg19 Xq13.2(chrX:72890072-73123210)x3	CHIC1, TSIX +1 more	Copy number gain	not provided	GUncertain significance
Select item 2663780	NC_000023.11:g.(?_66445907)_(78172208_?)dup	KIF4A, LOC130068402 +206 more	Duplication	Xq13q21 duplication	GPathogenic
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	BMX, CXorf38 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1808517	GRCh37/hg19 Xq13.2(chrX:72024935-73087982)x3	CDX4, CHIC1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	MIR224, MIR424 +793 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 1526815	GRCh37/hg19 Xq13.2-21.31(chrX:72095006-88455505)	HMGN5, ITM2A +49 more	Copy number gain	not specified	GUncertain significance
Select item 1526804	GRCh37/hg19 Xq11.1-21.1(chrX:61974855-79123671)	ABCB7, AMER1 +92 more	Copy number gain	not specified	GPathogenic
Select item 1526803	GRCh37/hg19 Xq11.1-21.1(chrX:61877278-79123671)	ABCB7, AMER1 +92 more	Copy number gain	not specified	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 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 694513	46,Y,inv(X)(p21.1q13.3)	ABCB7, AKAP4 +270 more	Inversion	Elevated circulating creatine kinase concentration	GLikely pathogenic
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 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 684962	GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1	ITGB1BP2, RGN +281 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 564772	GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2	ABCB7, ACE2 +415 more	Copy number gain	not provided	GPathogenic
Select item 545551	NC_000023.10:g.36649710_136649711del100000002insG	ADGRG4, ACTRT1 +541 more	Indel	Heterotaxy, visceral, 1, X-linked	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)	TBL1X, TBX22 +818 more	Copy number gain	See cases	GPathogenic
Select item 443946	GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1	ABCB7, ACE2 +539 more	Copy number loss	See cases	GPathogenic
Select item 443504	GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1	ABCB7, ABCD1 +695 more	Copy number loss	See cases	GPathogenic
Select item 443017	GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3	RBMX2, RBMXL3 +509 more	Copy number gain	See cases	GPathogenic
Select item 442832	GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1	PPP1R3F, RGN +300 more	Copy number loss	See cases	GPathogenic
Select item 442724	GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1	HDAC8, HDX +731 more	Copy number loss	See cases	GPathogenic
Select item 442646	GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3	LHFPL1, LONRF3 +505 more	Copy number gain	See cases	GPathogenic
Select item 442531	GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3	MECP2, MED12 +523 more	Copy number gain	See cases	GPathogenic
Select item 442354	GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686)	GAGE1, GAGE12H +390 more	Copy number loss	See cases	GPathogenic
Select item 442321	GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3	ABCB7, ABCD1 +505 more	Copy number gain	See cases	GPathogenic
Select item 442018	GRCh37/hg19 Xp11.21-q21.1(chrX:55240087-78225374)x1	ABCB7, AMER1 +104 more	Copy number loss	See cases	GPathogenic
Select item 425520	GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2	AWAT2, BCLAF3 +568 more	Copy number gain	not provided	GUncertain significance
Select item 395718	GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1	FAM133A, FAM156A +819 more	Copy number loss	See cases	GPathogenic
Select item 395687	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)	FOXO4, FOXP3 +819 more	Copy number loss	See cases	GPathogenic
Select item 395686	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4	TMSB4X, TNMD +819 more	Copy number gain	See cases	GPathogenic
Select item 394706	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3	GPKOW, PIN4 +819 more	Copy number gain	See cases	GPathogenic
Select item 394672	GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1	CT47A11, CT47A12 +818 more	Copy number loss	See cases	GPathogenic
Select item 394066	GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4	CT47A2, CT47A3 +299 more	Copy number gain	See cases	GPathogenic
Select item 394013	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1	CT45A2, PIN4 +819 more	Copy number loss	See cases	GPathogenic
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +822 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	GAGE12F, GAGE12G +822 more	Copy number gain	See cases	GPathogenic
Select item 253616	GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3	ABCB7, ABCD1 +504 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	FOXP3, FOXR2 +786 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	MCTS1, MECP2 +821 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	ABCB7, ABCD1 +821 more	Copy number gain	See cases	GPathogenic
Select item 253572	GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3	ABCB7, ABCD1 +504 more	Copy number gain	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	ABCB7, ABCD1 +821 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	EOLA2, ERAS +822 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	ABCB7, ABCD1 +822 more	Copy number gain	See cases	GPathogenic
Select item 253458	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	RENBP, REPS2 +821 more	Copy number gain	See cases	GPathogenic

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