ClinVar for Gene (Select 60343) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148884	GRCh37/hg19 Xq25-28(chrX:125253445-155233098)x1	ABCD1, ACTRT1 +215 more	Copy number loss	See cases	GPathogenic
Select item 3148864	GRCh37/hg19 Xq25-28(chrX:121656905-155233098)x1	ABCD1, ACTRT1 +221 more	Copy number loss	not provided	GPathogenic
Select item 3092411	NM_021806.4(FAM3A):c.652G>A (p.Glu218Lys)	FAM3A (E180K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092410	NM_021806.4(FAM3A):c.163A>G (p.Arg55Gly)	FAM3A (R17G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062499	GRCh37/hg19 Xq28(chrX:153714300-153868484)	CTAG1A, CTAG1B +5 more	Copy number gain	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	ALG13, AMMECR1 +488 more	Copy number gain	not provided	GPathogenic
Select item 2685779	GRCh37/hg19 Xq28(chrX:153606456-153828848)x2	ATP6AP1, CTAG1A +13 more	Copy number gain	not provided	GPathogenic
Select item 2685778	GRCh37/hg19 Xq28(chrX:153549167-153858492)x2	ATP6AP1, CTAG1A +16 more	Copy number gain	not provided	GPathogenic
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 2685025	GRCh37/hg19 Xq28(chrX:153613883-153862775)x3	CTAG1B, DNASE1L1 +13 more	Copy number gain	not provided	GPathogenic
Select item 2661851	NM_021806.4(FAM3A):c.141G>A (p.Ser47=)	FAM3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661850	NM_021806.4(FAM3A):c.354C>T (p.Ile118=)	FAM3A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2661849	NM_021806.4(FAM3A):c.362G>A (p.Arg121Gln)	FAM3A (R121Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2623379	NM_021806.4(FAM3A):c.169T>C (p.Tyr57His)	FAM3A (Y19H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2572018	GRCh37/hg19 Xq28(chrX:153566798-153748208)x4	ATP6AP1, DNASE1L1 +11 more	Copy number gain	Chromosome Xq28 duplication syndrome	Gnot provided
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	BMX, CXorf38 +821 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 2424174	NC_000023.10:g.(?_153585782)_(153775961_?)dup	ATP6AP1, DNASE1L1 +13 more	Duplication	Heterotopia, periventricular, X-linked dominant +3 more	GUncertain significance
Select item 2423563	NC_000023.10:g.(?_152014869)_(154563736_?)del	ABCD1, ARHGAP4 +68 more	Deletion	Dyskeratosis congenita	GUncertain significance
Select item 2422368	NC_000023.10:g.(?_153640181)_(153775961_?)dup	ATP6AP1, DNASE1L1 +10 more	Duplication	not provided	GUncertain significance
Select item 2422162	NC_000023.10:g.(?_153001546)_(154563736_?)dup	FAM3A, CMC4 +50 more	Duplication	Adrenoleukodystrophy	GUncertain significance
Select item 2422157	NC_000023.10:g.(?_152014869)_(155171615_?)del	ABCD1, ARHGAP4 +73 more	Deletion	3-Methylglutaconic aciduria type 2 +8 more	GPathogenic
Select item 2351164	NM_021806.4(FAM3A):c.409A>G (p.Ile137Val)	FAM3A (I137V +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1808722	GRCh37/hg19 Xq25-28(chrX:124749464-155233731)x1	ABCD1, ACTRT1 +216 more	Copy number loss	not provided	GPathogenic
Select item 1807675	GRCh37/hg19 Xq28(chrX:153613883-155233731)x2	ATP6AP1, BRCC3 +33 more	Copy number gain	not provided	GPathogenic
Select item 1722764	GRCh37/hg19 Xq28(chrX:153560562-153864851)x3	CTAG1A, CTAG1B +15 more	Copy number gain	Septo-optic dysplasia sequence	GLikely pathogenic
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	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 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	IDH3G, PDZD4 +200 more	Deletion	Immunodeficiency 33 +5 more	GPathogenic
Select item 1342311	Single allele	ABCD1, AFF2 +337 more	Duplication	Syndromic X-linked intellectual disability Lubs type	GPathogenic
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 1341085	GRCh37/hg19 Xq28(chrX:153093501-153792322)x2	ARHGAP4, ATP6AP1 +28 more	Copy number gain	not provided	GPathogenic
Select item 1340261	GRCh37/hg19 Xq28(chrX:153731506-153861077)x3	CTAG1A, CTAG1B +3 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 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	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 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 770831	NM_021806.4(FAM3A):c.393C>T (p.Asn131=)	FAM3A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 736968	NM_021806.4(FAM3A):c.642C>T (p.Pro214=)	FAM3A	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	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 687132	GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1	ABCD1, ACTRT1 +262 more	Copy number loss	not provided	GPathogenic
Select item 686884	GRCh37/hg19 Xq28(chrX:153609873-153815499)x3	ATP6AP1, CTAG1A +13 more	Copy number gain	not provided	GUncertain significance
Select item 686250	GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1	ABCD1, ACSL4 +320 more	Copy number loss	not provided	GPathogenic
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 685262	GRCh37/hg19 Xq28(chrX:153556428-153868487)x2	ATP6AP1, CTAG1A +16 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	RENBP, ATP6AP1 +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 625671	GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945)	ABCD1, ADGRG4 +160 more	Copy number gain	not provided	GPathogenic
Select item 565270	GRCh37/hg19 Xq28(chrX:153560741-153858492)x2,3	FLNA, DNASE1L1 +15 more	Copy number gain	not provided	GPathogenic
Select item 565269	GRCh37/hg19 Xq28(chrX:153560741-153761134)x2	GDI1, FLNA +12 more	Copy number gain	not provided	GPathogenic
Select item 564940	GRCh37/hg19 Xq28(chrX:153723127-153792604)x1	IKBKG, G6PD +1 more	Copy number loss	not provided	GUncertain significance
Select item 564939	GRCh37/hg19 Xq28(chrX:153621005-153868484)x4	CTAG1B, DNASE1L1 +13 more	Copy number gain	not provided	GUncertain significance
Select item 564938	GRCh37/hg19 Xq28(chrX:153581543-153858492)x2	CTAG1B, FLNA +15 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 536592	NC_000023.10:g.(?_153295726)_(153786885_?)dup	ATP6AP1, DNASE1L1 +19 more	Duplication	Severe neonatal-onset encephalopathy with microcephaly	GPathogenic
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 443726	GRCh37/hg19 Xq28(chrX:151201777-154741703)x2	ABCD1, ARHGAP4 +87 more	Copy number gain	See cases	GPathogenic
Select item 443724	GRCh37/hg19 Xq27.3-28(chrX:146232592-155233731)x1	ABCD1, AFF2 +121 more	Copy number loss	See cases	GPathogenic
Select item 443630	GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1	ABCD1, ACTRT1 +278 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 442965	GRCh37/hg19 Xq26.3-28(chrX:133944147-155233731)x3	ABCD1, ADGRG4 +175 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 442712	GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1	ABCD1, ACSL4 +385 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 442590	GRCh37/hg19 Xq28(chrX:151311551-155233731)x1	ABCD1, ARHGAP4 +86 more	Copy number loss	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 442422	GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1	ABCD1, ACSL4 +394 more	Copy number loss	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 442298	GRCh37/hg19 Xq28(chrX:151963528-155233731)x1	ABCD1, ARHGAP4 +75 more	Copy number loss	See cases	GPathogenic
Select item 442262	GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1	ABCD1, ACTRT1 +267 more	Copy number loss	See cases	GPathogenic

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