ClinVar for Gene (Select 139716) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3280368	NM_001081573.3(GAB3):c.779G>A (p.Ser260Asn)	GAB3 (S260N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280367	NM_001081573.3(GAB3):c.1540C>G (p.Arg514Gly)	GAB3 (R513G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3280365	NM_001081573.3(GAB3):c.1750C>G (p.Gln584Glu)	GAB3 (Q545E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3243728	NC_000023.10:g.(?_152954030)_(154005142_?)del	ABCD1, ARHGAP4 +40 more	Deletion	Dyskeratosis congenita +6 more	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 3148884	GRCh37/hg19 Xq25-28(chrX:125253445-155233098)x1	PRR32, ABCD1 +215 more	Copy number loss	See cases	GPathogenic
Select item 3148864	GRCh37/hg19 Xq25-28(chrX:121656905-155233098)x1	SLITRK2, SLITRK4 +221 more	Copy number loss	not provided	GPathogenic
Select item 3097770	NM_001081573.3(GAB3):c.677G>A (p.Cys226Tyr)	GAB3 (C225Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097769	NM_001081573.3(GAB3):c.292G>A (p.Val98Met)	GAB3 (V98M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3097768	NM_001081573.3(GAB3):c.1696G>A (p.Glu566Lys)	GAB3 (E565K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3097767	NM_001081573.3(GAB3):c.1421T>C (p.Val474Ala)	GAB3 (V473A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062491	GRCh37/hg19 Xq24-28(chrX:119395676-154930047)	TAFAZZIN, TENM1 +241 more	Copy number loss	not specified	GPathogenic
Select item 3062473	GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731)	ABCD1, ACSL4 +321 more	Copy number loss	not specified	GPathogenic
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	TAF9B, ARMCX2 +488 more	Copy number gain	not provided	GPathogenic
Select item 2685780	GRCh37/hg19 Xq28(chrX:153826261-154401171)x2	BRCC3, CMC4 +11 more	Copy number gain	not provided	GUncertain significance
Select item 2685774	GRCh37/hg19 Xq28(chrX:152916854-154775938)x2	GDI1, H2AB1 +58 more	Copy number gain	not provided	GPathogenic
Select item 2685724	GRCh37/hg19 Xq28(chrX:148598351-154943978)x1	ABCD1, ARHGAP4 +110 more	Copy number loss	not provided	GPathogenic
Select item 2685718	GRCh37/hg19 Xq24-28(chrX:119071609-155233731)x1	ABCD1, ACTRT1 +246 more	Copy number loss	not provided	GPathogenic
Select item 2685717	GRCh37/hg19 Xq24-28(chrX:118576752-155233731)x1	ABCD1, ACTRT1 +258 more	Copy number loss	not provided	GPathogenic
Select item 2685026	GRCh37/hg19 Xq28(chrX:153792456-154110373)x3	CTAG1A, CTAG1B +7 more	Copy number gain	not provided	GUncertain significance
Select item 2615864	NM_001081573.3(GAB3):c.1474G>A (p.Ala492Thr)	GAB3 (A491T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615863	NM_001081573.3(GAB3):c.1469A>G (p.Asn490Ser)	GAB3 (N490S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599980	NM_001081573.3(GAB3):c.752C>T (p.Ser251Leu)	GAB3 (S250L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595169	NM_001081573.3(GAB3):c.745C>T (p.Pro249Ser)	GAB3 (P248S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522975	NM_001081573.3(GAB3):c.461G>T (p.Ser154Ile)	GAB3 (S154I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2497748	GRCh37/hg19 Xq27.1-28(chrX:139586015-154774957)	ABCD1, AFF2 +140 more	Copy number gain	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 2483529	NM_001081573.3(GAB3):c.1142C>T (p.Pro381Leu)	GAB3 (P381L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465229	NM_001081573.3(GAB3):c.1091T>C (p.Leu364Ser)	GAB3 (L364S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2423563	NC_000023.10:g.(?_152014869)_(154563736_?)del	ABCD1, ARHGAP4 +68 more	Deletion	Dyskeratosis congenita	GUncertain significance
Select item 2422162	NC_000023.10:g.(?_153001546)_(154563736_?)dup	ABCD1, ARHGAP4 +50 more	Duplication	Adrenoleukodystrophy	GUncertain significance
Select item 2422157	NC_000023.10:g.(?_152014869)_(155171615_?)del	FLNA, FUNDC2 +73 more	Deletion	3-Methylglutaconic aciduria type 2 +8 more	GPathogenic
Select item 2399436	NM_001081573.3(GAB3):c.836G>T (p.Ser279Ile)	GAB3 (S278I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350194	NM_001081573.3(GAB3):c.253G>A (p.Val85Met)	GAB3 (V85M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300994	NM_001081573.3(GAB3):c.965G>A (p.Arg322His)	GAB3 (R321H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274017	NM_001081573.3(GAB3):c.1455A>T (p.Glu485Asp)	GAB3 (E484D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263078	NM_001081573.3(GAB3):c.109C>T (p.Arg37Cys)	GAB3 (R37C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213526	NM_001081573.3(GAB3):c.190G>A (p.Glu64Lys)	GAB3 (E64K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205615	NM_001081573.3(GAB3):c.1132A>T (p.Arg378Trp)	GAB3 (R378W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808722	GRCh37/hg19 Xq25-28(chrX:124749464-155233731)x1	ABCD1, ACTRT1 +216 more	Copy number loss	not provided	GPathogenic
Select item 1808402	GRCh37/hg19 Xq28(chrX:153868487-154071392)x2	CTAG2, DKC1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1807675	GRCh37/hg19 Xq28(chrX:153613883-155233731)x2	ATP6AP1, BRCC3 +33 more	Copy number gain	not provided	GPathogenic
Select item 1710916	GRCh37/hg19 Xq27.3-28(chrX:142401540-155233731)x1	ABCD1, BCAP31 +129 more	Copy number loss	See cases	GPathogenic
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	ABCB7, ABCD1 +790 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	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 1703536	GRCh37/hg19 Xq28(chrX:152372767-155233731)	CLIC2, CMC4 +68 more	Copy number gain	Chromosome Xq28 duplication syndrome +1 more	GPathogenic
Select item 1695898	GRCh37/hg19 Xq28(chrX:153529891-155114697)x3	SMIM9, TAFAZZIN +36 more	Copy number gain	not provided	Gnot provided
Select item 1684654	Single allele	CMC4, CTAG1A +200 more	Deletion	Ectodermal dysplasia and immunodeficiency 1 +5 more	GPathogenic
Select item 1342389	NC_000023.11:g.(154612552_154656872)_(156005236_156038495)del	BRCC3, CLIC2 +64 more	Deletion	not provided	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 1013587	GRCh37/hg19 Xq28(chrX:153263517-155260560)x2	H2AB3, IKBKG +43 more	Copy number gain	Intellectual disability	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 979836	GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1	ABCD1, ACSL4 +387 more	Copy number loss	not provided	GPathogenic
Select item 916135	GRCh37/hg19 Xq25-28(chrX:122132166-155097214)	APLN, ABCD1 +221 more	Copy number loss	Intellectual disability	GLikely pathogenic
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 779994	NM_001081573.3(GAB3):c.1559G>C (p.Ser520Thr)	GAB3 (S520T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 735754	NM_001081573.3(GAB3):c.829C>T (p.Leu277=)	GAB3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688406	GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1	ABCD1, ACTRT1 +220 more	Copy number loss	not provided	GPathogenic
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 687132	GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1	ABCD1, ACTRT1 +262 more	Copy number loss	not provided	GPathogenic
Select item 686250	GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1	ABCD1, ACSL4 +320 more	Copy number loss	not provided	GPathogenic
Select item 685609	GRCh37/hg19 Xq28(chrX:153941568-154290231)x2	CMC4, DKC1 +7 more	Copy number gain	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 684964	GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1	AIFM1, CXorf51A +389 more	Copy number loss	not provided	GPathogenic
Select item 658992	NC_000023.10:g.(?_152954020)_(154096327_?)del	SLC10A3, SLC6A8 +43 more	Deletion	Adrenoleukodystrophy	GPathogenic
Select item 625854	GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1	ABCD1, ACTRT1 +221 more	Copy number loss	Premature ovarian insufficiency	GLikely pathogenic
Select item 625803	GRCh37/hg19 Xq28(chrX:153761240-155227607)	BRCC3, CLIC2 +22 more	Copy number loss	not provided	GLikely pathogenic
Select item 625671	GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945)	ABCD1, ADGRG4 +160 more	Copy number gain	not provided	GPathogenic
Select item 564941	GRCh37/hg19 Xq28(chrX:153749360-155233731)x3	DKC1, F8A2 +22 more	Copy number gain	not provided	GPathogenic
Select item 564913	GRCh37/hg19 Xq27.2-28(chrX:140388077-155233731)x3	ABCD1, AFF2 +136 more	Copy number gain	not provided	GPathogenic
Select item 564912	GRCh37/hg19 Xq27.1-28(chrX:139504488-155233731)x1	ABCD1, AFF2 +141 more	Copy number loss	not provided	GPathogenic
Select item 564908	GRCh37/hg19 Xq27.1-28(chrX:138331745-155233731)x1	ABCD1, AFF2 +145 more	Copy number loss	not provided	GPathogenic
Select item 564897	GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1	ABCD1, ACTRT1 +214 more	Copy number loss	not provided	GPathogenic
Select item 564884	GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1	FMR1-AS1, FMR1NB +297 more	Copy number loss	not provided	GPathogenic
Select item 564874	GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1	ABCD1, ACSL4 +385 more	Copy number loss	not provided	GPathogenic
Select item 564868	GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1	ABCD1, ACSL4 +390 more	Copy number loss	not provided	GPathogenic
Select item 548971	GRCh37/hg19 Xq28(chrX:153576750-154563104)x1	CTAG1B, CTAG2 +30 more	Copy number loss	See cases	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 443726	GRCh37/hg19 Xq28(chrX:151201777-154741703)x2	ABCD1, ARHGAP4 +86 more	Copy number gain	See cases	GPathogenic
Select item 443724	GRCh37/hg19 Xq27.3-28(chrX:146232592-155233731)x1	ABCD1, AFF2 +120 more	Copy number loss	See cases	GPathogenic
Select item 443630	GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1	LRCH2, LUZP4 +277 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 442965	GRCh37/hg19 Xq26.3-28(chrX:133944147-155233731)x3	VGLL1, VMA21 +174 more	Copy number gain	See cases	GPathogenic
Select item 442945	GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1	ABCD1, ACSL4 +410 more	Copy number loss	See cases	GPathogenic
Select item 442712	GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1	ABCD1, ACSL4 +384 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 442590	GRCh37/hg19 Xq28(chrX:151311551-155233731)x1	CETN2, ABCD1 +85 more	Copy number loss	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

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