ClinVar for Gene (Select 117154) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062468	GRCh37/hg19 Xq13.1-22.1(chrX:68040342-100863081)	ABCB7, APOOL +121 more	Copy number gain	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 2685712	GRCh37/hg19 Xq21.2-21.31(chrX:84765926-87074707)x1	CHM, DACH2 +1 more	Copy number loss	not provided	GPathogenic
Select item 2685711	GRCh37/hg19 Xq13.2-21.31(chrX:73620711-90395211)x1	ABCB7, APOOL +39 more	Copy number loss	not provided	GPathogenic
Select item 2684996	GRCh37/hg19 Xq21.1-24(chrX:77212972-118576590)x3	ACSL4, AGTR2 +159 more	Copy number gain	not provided	GPathogenic
Select item 2661010	NM_053281.3(DACH2):c.945A>G (p.Pro315=)	DACH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661009	NM_053281.3(DACH2):c.930T>C (p.Asn310=)	DACH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661008	NM_053281.3(DACH2):c.656C>T (p.Ala219Val)	DACH2 (A206V +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2661007	NM_053281.3(DACH2):c.213C>T (p.Val71=)	DACH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2550001	NM_053281.3(DACH2):c.1587G>T (p.Leu529Phe)	DACH2 (L362F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536510	NM_053281.3(DACH2):c.185A>G (p.Asn62Ser)	DACH2 (N62S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515473	NM_053281.3(DACH2):c.1318G>A (p.Ala440Thr)	DACH2 (A427T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509916	NM_053281.3(DACH2):c.623G>A (p.Gly208Glu)	DACH2 (G195E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509485	NM_053281.3(DACH2):c.397G>A (p.Gly133Arg)	DACH2 (G133R)	Single nucleotide variant (missense variant)	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 2495980	NM_053281.3(DACH2):c.1746G>A (p.Met582Ile)	DACH2 (M569I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487503	NM_053281.3(DACH2):c.1025A>G (p.His342Arg)	DACH2 (H342R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476452	NM_053281.3(DACH2):c.154A>G (p.Ser52Gly)	DACH2 (S52G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402463	NM_053281.3(DACH2):c.854C>A (p.Ala285Glu)	DACH2 (A118E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366211	NM_053281.3(DACH2):c.1091C>T (p.Thr364Ile)	DACH2 (T197I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334564	NM_053281.3(DACH2):c.1023C>A (p.Asn341Lys)	DACH2 (N328K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308998	NM_053281.3(DACH2):c.1438A>C (p.Ile480Leu)	DACH2 (I313L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289384	NM_053281.3(DACH2):c.792G>C (p.Trp264Cys)	DACH2 (W251C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287680	NM_053281.3(DACH2):c.1680A>C (p.Leu560Phe)	DACH2 (L547F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282892	NM_053281.3(DACH2):c.1333C>T (p.Pro445Ser)	DACH2 (P278S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236360	NM_053281.3(DACH2):c.887C>T (p.Ala296Val)	DACH2 (A283V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223441	NM_053281.3(DACH2):c.14C>T (p.Ala5Val)	DACH2 (A5V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216249	NM_053281.3(DACH2):c.1085C>G (p.Ala362Gly)	DACH2 (A349G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1807605	GRCh37/hg19 Xq21.2(chrX:85478159-85630999)x0	DACH2	Copy number loss	not provided	GUncertain significance
Select item 1710513	GRCh37/hg19 Xq21.1-24(chrX:76794355-119282836)x3	CAPN6, CENPI +176 more	Copy number gain	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 1526822	GRCh37/hg19 Xq21.1-21.2(chrX:78104966-86189374)	APOOL, BRWD3 +16 more	Copy number loss	not specified	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 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 1341135	GRCh37/hg19 Xq21.1-21.31(chrX:78558916-86314970)x2	APOOL, BRWD3 +14 more	Copy number gain	not provided	GUncertain significance
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	CXorf49B, CXorf51A +821 more	Copy number loss	not provided	GPathogenic
Select item 999031	NC_000023.10:g.(?_85090756)_(85404112_?)dup	CHM, DACH2	Duplication	not provided	GUncertain significance
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 979833	GRCh37/hg19 Xq21.2-21.31(chrX:85631053-86633326)x3	DACH2	Copy number gain	not provided	GUncertain significance
Select item 979829	GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1	ACSL4, ACTRT1 +201 more	Copy number loss	not provided	GPathogenic
Select item 833505	NC_000023.10:g.(?_82763333)_(86890775_?)del	APOOL, CHM +9 more	Deletion	not provided	GPathogenic
Select item 833482	NC_000023.10:g.(?_83372068)_(86924394_?)del	APOOL, CHM +7 more	Deletion	not provided	GPathogenic
Select item 833457	NC_000023.10:g.(?_82763333)_(86924394_?)del	APOOL, CHM +9 more	Deletion	not provided	GPathogenic
Select item 833170	NC_000023.10:g.(?_84634178)_(85404112_?)del	CHM, DACH2 +1 more	Deletion	not provided	GPathogenic
Select item 832734	NC_000023.10:g.(?_83576897)_(86924394_?)del	APOOL, CHM +6 more	Deletion	not provided	GPathogenic
Select item 832217	NC_000023.10:g.(?_83372068)_(86890775_?)del	APOOL, SATL1 +7 more	Deletion	not provided	GPathogenic
Select item 831865	NC_000023.10:g.(?_83126460)_(86924394_?)del	APOOL, CHM +8 more	Deletion	not provided	GPathogenic
Select item 831838	NC_000023.10:g.(?_85090756)_(86924394_?)del	CHM, DACH2 +1 more	Deletion	not provided	GPathogenic
Select item 830673	NC_000023.10:g.(?_85211158)_(85404112_?)dup	CHM, DACH2	Duplication	not provided	GUncertain significance
Select item 830552	NC_000023.11:g.(?_85981737)_(86149108_?)del	CHM, DACH2	Deletion	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 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 686630	GRCh37/hg19 Xq13.3-21.31(chrX:74667077-90312981)x1	APOOL, ATP7A +34 more	Copy number loss	not provided	GPathogenic
Select item 685924	GRCh37/hg19 Xq21.2-21.31(chrX:85632464-86639781)x2	DACH2	Copy number gain	not provided	GUncertain significance
Select item 685697	GRCh37/hg19 Xq21.2-21.31(chrX:85630983-86642342)x3	DACH2	Copy number gain	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 564865	GRCh37/hg19 Xq21.2-21.31(chrX:85632742-86633326)x2	DACH2	Copy number gain	not provided	GUncertain significance
Select item 564864	GRCh37/hg19 Xq21.2(chrX:85588096-86011611)x0	DACH2	Copy number loss	not provided	GLikely benign
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 493537	NM_053281.3(DACH2):c.1616G>A (p.Arg539His)	DACH2 (R539H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 443946	GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1	BEX5, BMP15 +541 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 442945	GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1	RENBP, RHOXF1 +411 more	Copy number loss	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	MAGEE1, MAGEE2 +733 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 442321	GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3	ARMCX5-GPRASP2, ARMCX6 +506 more	Copy number gain	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 441843	GRCh37/hg19 Xq13.3-24(chrX:74560735-116609286)	ACSL4, AGTR2 +158 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	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 394706	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3	ABCB7, ABCD1 +822 more	Copy number gain	See cases	GPathogenic
Select item 394672	GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1	EIF2S3, ELF4 +821 more	Copy number loss	See cases	GPathogenic
Select item 394066	GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4	ABCB7, AKAP14 +299 more	Copy number gain	See cases	GPathogenic
Select item 394013	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1	MAGEB17, MAGEB18 +822 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

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