ClinVar for Gene (Select 7503) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 169

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366901	NC_000023.10:g.(?_54610638)_(154689386_?)dup	ABCB7, ABCD1 +526 more	Duplication	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 3350445	NR_001564.3(XIST):n.15371C>G	TSIX, XIST	Single nucleotide variant (non-coding transcript variant)	XIST-related disorder	GLikely benign
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
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_001564.3(XIST):n.8639A>G	XIST	Single nucleotide variant	XIST-related disorder	GBenign
Select item 3055882	NR_001564.3(XIST):n.2809C>T	XIST	Single nucleotide variant	XIST-related disorder	GLikely benign
Select item 3050691	NR_001564.3(XIST):n.2696G>A	XIST	Single nucleotide 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_001564.3(XIST):n.17781C>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_001564.3(XIST):n.16081T>A	TSIX, XIST	Single nucleotide variant (non-coding transcript variant)	XIST-related disorder	GBenign
Select item 3045578	NR_001564.3(XIST):n.16811A>C	TSIX, XIST	Single nucleotide variant (non-coding transcript variant)	XIST-related disorder	GBenign
Select item 3045435	NR_001564.3(XIST):n.7894A>G	XIST	Single nucleotide variant	XIST-related disorder	GBenign
Select item 3043452	NR_001564.3(XIST):n.6317C>A	XIST	Single nucleotide variant	XIST-related disorder	GLikely benign
Select item 3042649	NR_001564.3(XIST):n.18939T>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_001564.3(XIST):n.6390C>T	XIST	Single nucleotide variant	XIST-related disorder	GLikely benign
Select item 3041443	NR_001564.3(XIST):n.2014C>G	XIST	Single nucleotide variant	XIST-related disorder	GLikely benign
Select item 3041442	NR_001564.3(XIST):n.10231C>T	XIST	Single nucleotide 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_001564.3(XIST):n.10532T>C	XIST	Single nucleotide variant	XIST-related disorder	GLikely benign
Select item 3040467	NR_001564.3(XIST):n.2053A>C	XIST	Single nucleotide variant	XIST-related disorder	GLikely benign
Select item 3040456	NR_001564.3(XIST):n.9716C>T	XIST	Single nucleotide variant	XIST-related disorder	GLikely benign
Select item 3039573	NR_001564.3(XIST):n.12158G>A	TSIX, XIST	Single nucleotide variant (non-coding transcript variant)	XIST-related disorder	GBenign
Select item 3039382	NR_001564.3(XIST):n.2300G>A	XIST	Single nucleotide variant	XIST-related disorder	GBenign
Select item 3039258	NR_001564.3(XIST):n.9889T>C	XIST	Single nucleotide variant	XIST-related disorder	GBenign
Select item 3039016	NR_001564.3(XIST):n.10095T>C	XIST	Single nucleotide variant	XIST-related disorder	GBenign
Select item 3038835	NR_001564.3(XIST):n.10082A>G	XIST	Single nucleotide variant	XIST-related disorder	GBenign
Select item 3038714	NR_001564.3(XIST):n.597_598delTT	XIST	Deletion	XIST-related disorder	GLikely benign
Select item 3038685	NR_001564.3(XIST):n.16066delC	TSIX, XIST	Deletion (non-coding transcript variant)	XIST-related disorder	GBenign
Select item 3038647	NR_001564.3(XIST):n.4119T>G	XIST	Single nucleotide variant	XIST-related disorder	GBenign
Select item 3038410	NR_001564.3(XIST):n.3977A>G	XIST	Single nucleotide variant	XIST-related disorder	GLikely benign
Select item 3038264	NR_001564.3(XIST):n.18128A>T	TSIX, XIST	Single nucleotide variant (non-coding transcript variant)	XIST-related disorder	GLikely benign
Select item 3038232	NR_001564.3(XIST):n.2287A>T	XIST	Single nucleotide variant	not provided	GLikely benign
Select item 3037804	NR_001564.3(XIST):n.610A>T	XIST	Single nucleotide variant	XIST-related disorder	GBenign
Select item 3037539	NR_001564.3(XIST):n.4895C>G	XIST	Single nucleotide 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_001564.3(XIST):n.906G>A	XIST	Single nucleotide variant	XIST-related disorder	GBenign
Select item 3034421	NR_001564.3(XIST):n.9084_9085delGT	XIST	Deletion	XIST-related disorder	GLikely benign
Select item 3034118	NR_001564.3(XIST):n.5054A>G	XIST	Single nucleotide variant	XIST-related disorder	GBenign
Select item 3032664	NR_001564.3(XIST):n.10497_10507delGCCAGGATACA	XIST	Deletion	XIST-related disorder	GLikely benign
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	CT47A5, NXF3 +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	ABCB7, AR +206 more	Duplication	Xq13q21 duplication	GPathogenic
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1808517	GRCh37/hg19 Xq13.2(chrX:72024935-73087982)x3	CDX4, NAP1L2 +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 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 1526815	GRCh37/hg19 Xq13.2-21.31(chrX:72095006-88455505)	APOOL, ABCB7 +49 more	Copy number gain	not specified	GUncertain significance
Select item 1526804	GRCh37/hg19 Xq11.1-21.1(chrX:61974855-79123671)	AWAT1, AWAT2 +92 more	Copy number gain	not specified	GPathogenic
Select item 1526803	GRCh37/hg19 Xq11.1-21.1(chrX:61877278-79123671)	NALF2, NAP1L2 +92 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 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	KLHL34, KLHL4 +818 more	Copy number loss	not provided	GPathogenic
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 694513	46,Y,inv(X)(p21.1q13.3)	ABCB7, AKAP4 +268 more	Inversion	Elevated circulating creatine kinase concentration	GLikely pathogenic
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 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 684962	GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1	ABCB7, AKAP4 +281 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 564772	GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2	RPS6KA6, UPRT +413 more	Copy number gain	not provided	GPathogenic
Select item 545551	NC_000023.10:g.36649710_136649711del100000002insG	AMER1, AMMECR1 +541 more	Indel	Heterotaxy, visceral, 1, X-linked	GPathogenic
Select item 488014	Single allele	ARSF, CFAP47 +2632 more	Duplication	Autism +1 more	GPathogenic
Select item 443974	GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731)	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 443946	GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1	EIF1AX, EIF2S3 +539 more	Copy number loss	See cases	GPathogenic
Select item 443504	GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1	PNMA5, PNMA6A +695 more	Copy number loss	See cases	GPathogenic
Select item 443017	GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3	NAA10, NALF2 +509 more	Copy number gain	See cases	GPathogenic
Select item 442832	GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1	ABCB7, AKAP4 +300 more	Copy number loss	See cases	GPathogenic
Select item 442724	GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1	AP1S2, APEX2 +731 more	Copy number loss	See cases	GPathogenic
Select item 442646	GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3	OR13H1, OTUD6A +505 more	Copy number gain	See cases	GPathogenic
Select item 442531	GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3	ABCB7, ABCD1 +523 more	Copy number gain	See cases	GPathogenic
Select item 442354	GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686)	ABCB7, ACE2 +390 more	Copy number loss	See cases	GPathogenic
Select item 442321	GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3	YIPF6, ZBTB33 +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	BEX4, BEX5 +566 more	Copy number gain	not provided	GUncertain significance
Select item 395718	GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1	TMLHE, TMSB15A +819 more	Copy number loss	See cases	GPathogenic
Select item 395687	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 395686	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4	BEX1, BEX2 +819 more	Copy number gain	See cases	GPathogenic
Select item 394706	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 394672	GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1	ABCB7, ADGRG2 +818 more	Copy number loss	See cases	GPathogenic
Select item 394066	GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4	TCEAL8, TCEAL9 +299 more	Copy number gain	See cases	GPathogenic
Select item 394013	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	TMEM255A, TMEM31 +819 more	Copy number gain	See cases	GPathogenic
Select item 253616	GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	ABCB7, ABCD1 +783 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	PNMA3, PLP1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253572	GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	MAGEB4, MAGEB5 +818 more	Copy number loss	See cases	GPathogenic

<< First< Prev

Page of 2