GABRQ[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 488014	Single allele	ARMCX3, CT47A11 +2631 more	Duplication	Autism +1 more	GPathogenic
Select item 146764	GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1	VAMP7, VBP1 +2633 more	Copy number loss	See cases	GPathogenic
Select item 160983	GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	ABCB7, ABCD1 +2632 more	Copy number loss	See cases	GPathogenic
Select item 160897	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	LOC130068116, LOC130068117 +2633 more	Copy number gain	See cases	GPathogenic
Select item 160890	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	NAA10, NALF2 +2633 more	Copy number loss	See cases	GPathogenic
Select item 144172	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4	LOC130068159, LOC130068160 +2633 more	Copy number gain	See cases	GPathogenic
Select item 57087	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	LOC111365170, LOC111365174 +2633 more	Copy number loss	See cases	GPathogenic
Select item 57086	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	LOC110120679, LOC110120680 +2633 more	Copy number gain	See cases	GPathogenic
Select item 154558	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3	ITGB1BP2, ITIH6 +2632 more	Copy number gain	See cases	GPathogenic
Select item 146861	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1	LOC130068277, LOC130068278 +2632 more	Copy number loss	See cases	GPathogenic
Select item 144465	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1	LOC126863344, LOC126863345 +2632 more	Copy number loss	See cases	GPathogenic
Select item 144429	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3	AP1S2, APEX2 +2632 more	Copy number gain	See cases	GPathogenic
Select item 144310	GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1	ABCB7, ABCD1 +2631 more	Copy number loss	See cases	GPathogenic
Select item 161089	GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1	LOC130068156, LOC130068157 +2632 more	Copy number loss	See cases	GPathogenic
Select item 57161	GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1	LOC125467792, LOC125467793 +2628 more	Copy number loss	See cases	GPathogenic
Select item 57160	GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3	ABCB7, ABCD1 +2628 more	Copy number gain	See cases	GPathogenic
Select item 152900	GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3	ABCB7, ABCD1 +2633 more	Copy number gain	See cases	GPathogenic
Select item 145995	GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1	VCX3B, VEGFD +2633 more	Copy number loss	See cases	GPathogenic
Select item 145162	GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3	CENPVL1, CENPVL2 +2632 more	Copy number gain	See cases	GPathogenic
Select item 58553	GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3	CT47A6, CT47A7 +2632 more	Copy number gain	See cases	GPathogenic
Select item 161091	GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	LOC116309160, LOC116309161 +2631 more	Copy number gain	See cases	GPathogenic
Select item 161088	GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1	ABCB7, ABCD1 +2631 more	Copy number loss	See cases	GPathogenic
Select item 58555	GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3	CTPS2, CUL4B +2631 more	Copy number gain	See cases	GPathogenic
Select item 147257	GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1	LOC130068611, LOC130068612 +2632 more	Copy number loss	See cases	GPathogenic
Select item 155374	GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1	LOC130068404, LOC130068405 +2632 more	Copy number loss	See cases	GPathogenic
Select item 155366	GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3	GPR101, GPR119 +2632 more	Copy number gain	See cases	GPathogenic
Select item 155152	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3	LOC109396974, LOC109504725 +2632 more	Copy number gain	See cases	GPathogenic
Select item 152158	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1	WDR13, WDR44 +2632 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 152157	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4	ABCB7, ABCD1 +2632 more	Copy number gain	See cases	GPathogenic
Select item 151130	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3	LINC00629, LINC00630 +2632 more	Copy number gain	See cases	GPathogenic
Select item 150422	GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1	TSR2, TXLNG +2611 more	Copy number loss	See cases	GPathogenic
Select item 152899	GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3	DMRTC1, DMRTC1B +2603 more	Copy number gain	See cases	GPathogenic
Select item 147627	GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3	DLG3, DLG3-AS1 +2593 more	Copy number gain	See cases	GPathogenic
Select item 147683	GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2	LOC116309156, LOC116309157 +2593 more	Copy number gain	See cases	GPathogenic
Select item 58586	GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3	LOC130068344, LOC130068345 +2595 more	Copy number gain	See cases	GPathogenic
Select item 57225	GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2	LOC129391311, LOC129391312 +2585 more	Copy number gain	See cases	GPathogenic
Select item 146240	GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1	ABCB7, ABCD1 +2102 more	Copy number loss	See cases	GPathogenic
Select item 145974	GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1	ABCB7, ABCD1 +2098 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 57923	GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1	ABCB7, ABCD1 +1476 more	Copy number loss	See cases	GPathogenic
Select item 148479	GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3	LOC126863296, LOC126863297 +1467 more	Copy number gain	See cases	GPathogenic
Select item 150589	GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3	ABCB7, ABCD1 +1467 more	Copy number gain	See cases	GPathogenic
Select item 144543	GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3	ABCB7, ABCD1 +1466 more	Copy number gain	See cases	GPathogenic
Select item 57924	GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1	LOC130068371, LOC130068372 +1464 more	Copy number loss	See cases	GPathogenic
Select item 145624	GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1	ABCB7, ABCD1 +1254 more	Copy number loss	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 148019	GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1	LOC130068496, LOC130068497 +1244 more	Copy number loss	See cases	GPathogenic
Select item 155065	GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1	MCTS1, MECP2 +1229 more	Copy number loss	See cases	GPathogenic
Select item 148052	GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1	ABCD1, ACSL4 +1230 more	Copy number loss	See cases	GPathogenic
Select item 146131	GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1	LOC126863325, LOC126863326 +1225 more	Copy number loss	See cases	GPathogenic
Select item 154252	GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1	LOC130068537, LOC130068538 +1206 more	Copy number loss	See cases	GPathogenic
Select item 145168	GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1	LOC125467786, LOC125467787 +1203 more	Copy number loss	See cases	GPathogenic
Select item 146845	GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1	LAMP2, LDOC1 +1197 more	Copy number loss	See cases	GPathogenic
Select item 149834	GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1	ABCD1, ACSL4 +1193 more	Copy number loss	See cases	GPathogenic
Select item 153436	GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1	LOC130068661, LOC130068662 +1181 more	Copy number loss	See cases	GPathogenic
Select item 150562	GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1	ABCD1, ACSL4 +1180 more	Copy number loss	See cases	GPathogenic
Select item 144262	GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3	LOC130068480, LOC130068481 +1169 more	Copy number gain	See cases	GPathogenic
Select item 153756	GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1	LOC101927830, LOC101928335 +1159 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 153730	GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1	ABCD1, ACSL4 +1152 more	Copy number loss	See cases	GPathogenic
Select item 145981	GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1	ABCD1, ACSL4 +1150 more	Copy number loss	See cases	GPathogenic
Select item 147352	GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3	LOC126863349, LOC129391309 +1143 more	Copy number gain	See cases	GPathogenic
Select item 148958	GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3	LOC121627985, LOC121627986 +1141 more	Copy number gain	See cases	GPathogenic
Select item 57971	GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1	ABCD1, ACSL4 +1123 more	Copy number loss	See cases	GPathogenic
Select item 148341	GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1	MAGEA8-AS1, MAGEA9 +1075 more	Copy number loss	See cases	GPathogenic
Select item 148822	GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1	LOC130068847, LOC130068848 +1002 more	Copy number loss	See cases	GPathogenic
Select item 149544	GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1	LOC130068862, LOC130068863 +1001 more	Copy number loss	See cases	GPathogenic
Select item 154022	GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1	ABCD1, ACSL4 +996 more	Copy number loss	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 146791	GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3	MTMR1, NAA10 +831 more	Copy number gain	See cases	GPathogenic
Select item 145613	GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1	ABCD1, ACTRT1 +883 more	Copy number loss	See cases	GPathogenic
Select item 57454	GRCh38/hg38 Xq23-28(chrX:115417992-156022206)x1	ABCD1, ACTRT1 +869 more	Copy number loss	See cases	GPathogenic
Select item 153940	GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1	ABCD1, ACTRT1 +833 more	Copy number loss	See cases	GPathogenic
Select item 153304	GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1	MAGEA10, MAGEA11 +820 more	Copy number loss	See cases	GPathogenic
Select item 58668	GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3	MIR2114, MIR224 +718 more	Copy number gain	See cases	GPathogenic
Select item 148083	GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1	EOLA2, EOLA2-DT +720 more	Copy number loss	See cases	GPathogenic
Select item 57987	GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1	ABCD1, ACTRT1 +701 more	Copy number loss	See cases	GPathogenic
Select item 146858	GRCh38/hg38 Xq25-28(chrX:128473235-156003229)x1	ABCD1, ADGRG4 +698 more	Copy number loss	See cases	GPathogenic
Select item 57990	GRCh38/hg38 Xq26.3-28(chrX:136956500-156020993)x1	ABCD1, AFF2 +430 more	Copy number loss	See cases	GPathogenic
Select item 148182	GRCh38/hg38 Xq26.3-28(chrX:137118983-156003242)x1	ABCD1, AFF2 +427 more	Copy number loss	See cases	GPathogenic
Select item 144336	GRCh38/hg38 Xq27.1-28(chrX:139333024-155978689)x1	CNGA2, CSAG1 +417 more	Copy number loss	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 58688	GRCh38/hg38 Xq27.1-28(chrX:140226495-155687381)x2	LOC108281134, LOC109396974 +399 more	Copy number gain	See cases	GPathogenic
Select item 58691	GRCh38/hg38 Xq27.1-28(chrX:140445228-154604471)x2	MAGEA11, MAGEA12 +336 more	Copy number gain	See cases	GPathogenic
Select item 146621	GRCh38/hg38 Xq27.1-28(chrX:140783390-155611114)x2	ABCD1, AFF2 +393 more	Copy number gain	See cases	GPathogenic
Select item 1342311	Single allele	ABCD1, AFF2 +337 more	Duplication	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 58692	GRCh38/hg38 Xq27.1-28(chrX:141160282-155699618)x3	ABCD1, AFF2 +391 more	Copy number gain	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 149706	GRCh38/hg38 Xq27.3-28(chrX:143553831-156003229)x1	ABCD1, AFF2 +378 more	Copy number loss	See cases	GPathogenic
Select item 144243	GRCh38/hg38 Xq27.3-28(chrX:144627217-155434735)x3	ABCD1, AFF2 +363 more	Copy number gain	See cases	GPathogenic
Select item 154935	GRCh38/hg38 Xq28(chrX:148951460-155434653)x2	ABCD1, AFF2 +318 more	Copy number gain	See cases	GPathogenic
Select item 57059	GRCh38/hg38 Xq28(chrX:149989929-156022206)x3	LOC108281126, LOC110121199 +289 more	Copy number gain	See cases	GPathogenic
Select item 57273	GRCh38/hg38 Xq28(chrX:150036146-156022206)x3	ABCD1, ARHGAP4 +288 more	Copy number gain	See cases	GPathogenic
Select item 147548	GRCh38/hg38 Xq28(chrX:151750863-155522304)x1	NAA10, NSDHL +245 more	Copy number loss	See cases	GPathogenic
Select item 154191	GRCh38/hg38 Xq28(chrX:152202201-152678580)x1	GABRA3, GABRQ +4 more	Copy number loss	See cases	GUncertain significance
Select item 3097865	NM_018558.4(GABRQ):c.421C>T (p.Pro141Ser)	GABRQ (P141S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2661667	NM_018558.4(GABRQ):c.483C>T (p.Arg161=)	GABRQ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 871953	NM_018558.4(GABRQ):c.486_487del (p.Phe163fs)	GABRQ (F163fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 2661668	NM_018558.4(GABRQ):c.535A>G (p.Thr179Ala)	GABRQ (T179A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3097866	NM_018558.4(GABRQ):c.574A>G (p.Met192Val)	GABRQ (M192V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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