GABRA3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 488014	Single allele	ARSF, CFAP47 +2632 more	Duplication	Autism +1 more	GPathogenic
Select item 146764	GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1	ABCB7, ABCD1 +2634 more	Copy number loss	See cases	GPathogenic
Select item 160983	GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	LOC130067918, LOC130067919 +2633 more	Copy number loss	See cases	GPathogenic
Select item 160897	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	LOC130068528, LOC130068529 +2634 more	Copy number gain	See cases	GPathogenic
Select item 160890	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	ARMCX5, ARMCX5-GPRASP2 +2634 more	Copy number loss	See cases	GPathogenic
Select item 144172	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4	APOO, APOOL +2634 more	Copy number gain	See cases	GPathogenic
Select item 57087	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	LOC130068308, LOC130068309 +2634 more	Copy number loss	See cases	GPathogenic
Select item 57086	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	ABCB7, ABCD1 +2634 more	Copy number gain	See cases	GPathogenic
Select item 154558	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3	LOC126863325, LOC126863326 +2633 more	Copy number gain	See cases	GPathogenic
Select item 146861	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1	LOC130068075, LOC130068076 +2633 more	Copy number loss	See cases	GPathogenic
Select item 144465	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1	LOC130068278, LOC130068279 +2633 more	Copy number loss	See cases	GPathogenic
Select item 144429	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3	LOC130068310, LOC130068311 +2633 more	Copy number gain	See cases	GPathogenic
Select item 144310	GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1	VAMP7, VBP1 +2632 more	Copy number loss	See cases	GPathogenic
Select item 161089	GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1	ABCB7, ABCD1 +2633 more	Copy number loss	See cases	GPathogenic
Select item 57161	GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1	LOC107988022, LOC107988024 +2629 more	Copy number loss	See cases	GPathogenic
Select item 57160	GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3	LOC130067944, LOC130067945 +2629 more	Copy number gain	See cases	GPathogenic
Select item 152900	GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3	ABCB7, ABCD1 +2634 more	Copy number gain	See cases	GPathogenic
Select item 145995	GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1	ABCB7, ABCD1 +2634 more	Copy number loss	See cases	GPathogenic
Select item 145162	GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3	LOC130067929, LOC130067930 +2633 more	Copy number gain	See cases	GPathogenic
Select item 58553	GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3	LOC130068219, LOC130068220 +2633 more	Copy number gain	See cases	GPathogenic
Select item 161091	GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	ABCB7, ABCD1 +2632 more	Copy number gain	See cases	GPathogenic
Select item 161088	GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1	VAMP7, VBP1 +2632 more	Copy number loss	See cases	GPathogenic
Select item 58555	GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3	LOC126863224, LOC126863225 +2632 more	Copy number gain	See cases	GPathogenic
Select item 147257	GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1	LOC121627971, LOC121627972 +2633 more	Copy number loss	See cases	GPathogenic
Select item 155374	GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1	FUNDC1, FUNDC2 +2633 more	Copy number loss	See cases	GPathogenic
Select item 155366	GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3	LOC126863244, LOC126863245 +2633 more	Copy number gain	See cases	GPathogenic
Select item 155152	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3	ABCB7, ABCD1 +2633 more	Copy number gain	See cases	GPathogenic
Select item 152158	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1	LOC130068098, LOC130068099 +2633 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 152157	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4	ABCB7, ABCD1 +2633 more	Copy number gain	See cases	GPathogenic
Select item 151130	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3	LOC126863315, LOC126863316 +2633 more	Copy number gain	See cases	GPathogenic
Select item 150422	GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1	LOC130068055, LOC130068056 +2612 more	Copy number loss	See cases	GPathogenic
Select item 152899	GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3	CNKSR2, COL4A5 +2604 more	Copy number gain	See cases	GPathogenic
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 147627	GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3	LOC130068152, LOC130068153 +2594 more	Copy number gain	See cases	GPathogenic
Select item 147683	GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2	LOC130068468, LOC130068469 +2594 more	Copy number gain	See cases	GPathogenic
Select item 58586	GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3	LOC130067984, LOC130067985 +2596 more	Copy number gain	See cases	GPathogenic
Select item 57225	GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2	ABCB7, ABCD1 +2586 more	Copy number gain	See cases	GPathogenic
Select item 146240	GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1	LOC130068242, LOC130068243 +2103 more	Copy number loss	See cases	GPathogenic
Select item 145974	GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1	LOC126863280, LOC126863281 +2099 more	Copy number loss	See cases	GPathogenic
Select item 155282	GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1	P2RY10, P2RY4 +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	ABCB7, ABCD1 +1467 more	Copy number gain	See cases	GPathogenic
Select item 150589	GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3	LOC130068612, LOC130068613 +1467 more	Copy number gain	See cases	GPathogenic
Select item 144543	GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3	LOC126863288, LOC126863289 +1466 more	Copy number gain	See cases	GPathogenic
Select item 57924	GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1	LOC130068438, LOC130068439 +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 1440978	NM_000808.4(GABRA3):c.1463T>C (p.Met488Thr)	GABRA3 (M488T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 985441	NM_000808.4(GABRA3):c.1421A>G (p.Tyr474Cys)	GABRA3 (Y474C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GPathogenic
Select item 782828	NM_000808.4(GABRA3):c.1338C>G (p.Thr446=)	GABRA3	Single nucleotide variant (synonymous variant)	GABRA3-related disorder +1 more	GBenign/Likely benign
Select item 3280391	NM_000808.4(GABRA3):c.1316T>C (p.Val439Ala)	GABRA3 (V439A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3097810	NM_000808.4(GABRA3):c.1283C>G (p.Pro428Arg)	GABRA3 (P428R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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