ClinVar for Gene (Select 108684022) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2665033	GRCh38/hg38 Xq27.3-28(chrX:143293592-149749234)	AFF2, CXorf51A +74 more	Copy number gain	Mucopolysaccharidosis, MPS-II	GUncertain significance
Select item 2661591	NM_002024.6(FMR1):c.-98GGC[9]	FMR1, FRAXA +1 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2661590	NM_002024.6(FMR1):c.-102C>A	FMR1, FRAXA +2 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2661589	NM_002024.6(FMR1):c.-99_-94del	FMR1, FRAXA +2 more	Deletion (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2661588	NM_002024.6(FMR1):c.-110_-103GGC[2]GGAGGCGGCGG[1]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2661587	NM_002024.6(FMR1):c.-117C>A	FMR1, FRAXA +2 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2579107	NM_002024.6(FMR1):c.-111C>A	FMR1, FRAXA +2 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1695320	NM_002024.6(FMR1):c.-99_-82del	FMR1, FRAXA +2 more	Deletion (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1342311	Single allele	ABCD1, AFF2 +337 more	Duplication	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 1272795	NM_002024.6(FMR1):c.-98GGC[11]	FMR1, FRAXA +1 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1168103	NM_002024.6(FMR1):c.-129CGG[5]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1166634	NM_002024.6(FMR1):c.-129CGG[7]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1164648	NM_002024.6(FMR1):c.-129CGG[6]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
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 795779	NM_002024.6(FMR1):c.-129CGG[8]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 794273	NM_002024.6(FMR1):c.-129CGG[12]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 793052	NM_002024.6(FMR1):c.-129CGG[15]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 766615	NM_002024.6(FMR1):c.-129CGG[17]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 766175	NM_002024.6(FMR1):c.-129_-100=	FMR1, FRAXA +2 more	Microsatellite (no sequence alteration +1 more)	not provided	GBenign
Select item 766072	NM_002024.6(FMR1):c.-129CGG[9]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 763962	NM_002024.6(FMR1):c.-129CGG[13]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 763160	NM_002024.6(FMR1):c.-129CGG[16]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 763079	NM_002024.6(FMR1):c.-129CGG[28]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 763001	NM_002024.6(FMR1):c.-129CGG[18]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 762915	NM_002024.6(FMR1):c.-129CGG[39]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 762898	NM_002024.6(FMR1):c.-129CGG[21]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 762842	NM_002024.6(FMR1):c.-129CGG[43]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 762841	NM_002024.6(FMR1):c.-129CGG[34]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 762827	NM_002024.6(FMR1):c.-129CGG[25]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 762804	NM_002024.6(FMR1):c.-129CGG[14]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 762791	NM_002024.6(FMR1):c.-129CGG[19]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 762766	NM_002024.6(FMR1):c.-129CGG[44]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 762764	NM_002024.6(FMR1):c.-129CGG[24]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 762640	NM_002024.6(FMR1):c.-129CGG[27]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 762636	NM_002024.6(FMR1):c.-129CGG[26]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 762634	NM_002024.6(FMR1):c.-129CGG[41]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 762626	NM_002024.6(FMR1):c.-129CGG[22]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 762625	NM_002024.6(FMR1):c.-129CGG[38]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 762367	NM_002024.6(FMR1):c.-129CGG[36]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 762365	NM_002024.6(FMR1):c.-129CGG[40]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 762358	NM_002024.6(FMR1):c.-129CGG[32]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 762343	NM_002024.6(FMR1):c.-129CGG[33]	LOC107032825, FMR1 +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 762341	NM_002024.6(FMR1):c.-129CGG[35]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 761225	NM_002024.6(FMR1):c.-129CGG[42]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 761197	NM_002024.6(FMR1):c.-129CGG[20]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 761004	NM_002024.6(FMR1):c.-129CGG[37]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 761003	NM_002024.6(FMR1):c.-129CGG[30]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 761002	NM_002024.6(FMR1):c.-129CGG[29]	LOC107032825, FMR1 +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 760974	NM_002024.6(FMR1):c.-129CGG[23]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 760968	NM_002024.6(FMR1):c.-129CGG[31]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 752727	NM_002024.6(FMR1):c.-129CGG[11]	LOC129929053, FMR1 +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 623467	NM_002024.6(FMR1):c.-128GGC[55_200]	FMR1, FRAXA +2 more	Microsatellite	Fragile X-associated tremor/ataxia syndrome +1 more	GPathogenic
Select item 488014	Single allele	ARMCX3, CT47A11 +2631 more	Duplication	Autism +1 more	GPathogenic
Select item 183387	NM_002024.6(FMR1):c.-129CGG[201]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	Fragile X syndrome	GPathogenic
Select item 161091	GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	ABCB7, ABCD1 +2631 more	Copy number gain	See cases	GPathogenic
Select item 161089	GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1	LOC119407398, LOC119407399 +2632 more	Copy number loss	See cases	GPathogenic
Select item 161088	GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1	LOC130068054, LOC130068055 +2631 more	Copy number loss	See cases	GPathogenic
Select item 160983	GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	LOC130068194, LOC130068195 +2632 more	Copy number loss	See cases	GPathogenic
Select item 160897	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	LOC126863191, LOC126863192 +2633 more	Copy number gain	See cases	GPathogenic
Select item 160890	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	LOC130068432, LOC130068433 +2633 more	Copy number loss	See cases	GPathogenic
Select item 155374	GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1	ACOT9, ABCB7 +2632 more	Copy number loss	See cases	GPathogenic
Select item 155366	GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3	LOC126863301, LOC126863302 +2632 more	Copy number gain	See cases	GPathogenic
Select item 155357	GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1	ABCB7, ABCD1 +1249 more	Copy number loss	See cases	GPathogenic
Select item 155282	GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1	ABCB7, ABCD1 +1590 more	Copy number loss	See cases	GPathogenic
Select item 155152	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3	LOC126863205, LOC126863206 +2632 more	Copy number gain	See cases	GPathogenic
Select item 155065	GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1	ABCD1, ACSL4 +1229 more	Copy number loss	See cases	GPathogenic
Select item 154558	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3	CT45A7, CT45A8 +2632 more	Copy number gain	See cases	GPathogenic
Select item 154510	GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1	ABCD1, ACTRT1 +909 more	Copy number loss	See cases	GPathogenic
Select item 154252	GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1	FAM3A, FAM50A +1206 more	Copy number loss	See cases	GPathogenic
Select item 154022	GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1	PLXNB3-AS1, PNCK +996 more	Copy number loss	See cases	GPathogenic
Select item 153940	GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1	LOC130068664, LOC130068665 +833 more	Copy number loss	See cases	GPathogenic
Select item 153756	GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1	ABCD1, ACSL4 +1159 more	Copy number loss	See cases	GPathogenic
Select item 153730	GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1	LOC130068676, LOC130068677 +1152 more	Copy number loss	See cases	GPathogenic
Select item 153436	GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1	ABCD1, ACSL4 +1181 more	Copy number loss	See cases	GPathogenic
Select item 153304	GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1	LOC130068670, LOC130068671 +820 more	Copy number loss	See cases	GPathogenic
Select item 153019	GRCh38/hg38 Xq27.2-28(chrX:142602008-149482800)x1	AFF2, CXorf51A +57 more	Copy number loss	See cases	GPathogenic
Select item 152900	GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3	LOC130068458, LOC130068459 +2633 more	Copy number gain	See cases	GPathogenic
Select item 152899	GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3	ABCB7, ABCD1 +2603 more	Copy number gain	See cases	GPathogenic
Select item 152158	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1	LOC107985687, LOC107988021 +2632 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 152157	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4	LOC130067947, LOC130067948 +2632 more	Copy number gain	See cases	GPathogenic
Select item 151130	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3	CT45A3, CT45A5 +2632 more	Copy number gain	See cases	GPathogenic
Select item 150932	GRCh38/hg38 Xq27.1-28(chrX:139530928-156003229)x1	ABCD1, AFF2 +418 more	Copy number loss	See cases	GPathogenic
Select item 150589	GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3	LOC130068588, LOC130068589 +1467 more	Copy number gain	See cases	GPathogenic
Select item 150562	GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1	LOC130068516, LOC130068517 +1180 more	Copy number loss	See cases	GPathogenic
Select item 150509	GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1	ABCD1, ACSL4 +1155 more	Copy number loss	See cases	GPathogenic
Select item 150422	GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1	CDKL5, CDR1 +2611 more	Copy number loss	See cases	GPathogenic
Select item 149834	GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1	CT45A10, CT45A2 +1193 more	Copy number loss	See cases	GPathogenic
Select item 149706	GRCh38/hg38 Xq27.3-28(chrX:143553831-156003229)x1	ABCD1, AFF2 +378 more	Copy number loss	See cases	GPathogenic
Select item 149544	GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1	LOC130068869, LOC130068870 +1001 more	Copy number loss	See cases	GPathogenic
Select item 148958	GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3	LOC130068811, LOC130068812 +1141 more	Copy number gain	See cases	GPathogenic
Select item 148822	GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1	LOC130068697, LOC130068698 +1002 more	Copy number loss	See cases	GPathogenic
Select item 148479	GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3	LOC113875008, LOC113875009 +1467 more	Copy number gain	See cases	GPathogenic
Select item 148341	GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1	LOC130068686, LOC130068687 +1075 more	Copy number loss	See cases	GPathogenic
Select item 148182	GRCh38/hg38 Xq26.3-28(chrX:137118983-156003242)x1	IKBKG, IL9R +427 more	Copy number loss	See cases	GPathogenic
Select item 148083	GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1	LOC126863326, LOC126863327 +720 more	Copy number loss	See cases	GPathogenic
Select item 148052	GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1	LOC130068886, LOC130068887 +1230 more	Copy number loss	See cases	GPathogenic
Select item 148019	GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1	DNAAF6, DNASE1L1 +1244 more	Copy number loss	See cases	GPathogenic
Select item 147764	GRCh38/hg38 Xq27.2-28(chrX:141650284-156022206)x1	ABCD1, AFF2 +390 more	Copy number loss	See cases	GPathogenic
Select item 147683	GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2	LOC130068368, LOC130068369 +2593 more	Copy number gain	See cases	GPathogenic
Select item 147627	GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3	LOC126863296, LOC126863297 +2593 more	Copy number gain	See cases	GPathogenic

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