ClinVar for Gene (Select 100272147) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366901	NC_000023.10:g.(?_54610638)_(154689386_?)dup	ABCB7, ABCD1 +526 more	Duplication	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3235933	GRCh38/hg38 Xq28(chrX:154895862-155336084)	BRCC3, CLIC2 +34 more	Copy number gain	Chromosome Xq28 duplication syndrome	GPathogenic
Select item 3214093	NM_001018025.4(MTCP1):c.245C>G (p.Ser82Cys)	CMC4, MTCP1 (S82C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3146212	NM_001018024.3(CMC4):c.188G>A (p.Arg63Gln)	CMC4 (R63Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062537	GRCh37/hg19 Xq28(chrX:154260005-154739500)	BRCC3, CLIC2 +10 more	Copy number gain	not specified	GPathogenic
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	CT47A5, NXF3 +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 2583089	GRCh37/hg19 Xq28(chrX:154124352-154563736)x2	FUNDC2, BRCC3 +6 more	Copy number gain	not provided	GPathogenic
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 2423563	NC_000023.10:g.(?_152014869)_(154563736_?)del	CMC4, CTAG1A +68 more	Deletion	Dyskeratosis congenita	GUncertain significance
Select item 2422162	NC_000023.10:g.(?_153001546)_(154563736_?)dup	CTAG1A, CTAG1B +50 more	Duplication	Adrenoleukodystrophy	GUncertain significance
Select item 2422157	NC_000023.10:g.(?_152014869)_(155171615_?)del	ABCD1, ARHGAP4 +73 more	Deletion	Heterotopia, periventricular, X-linked dominant +8 more	GPathogenic
Select item 2323511	NM_001018024.3(CMC4):c.41T>C (p.Ile14Thr)	CMC4 (I14T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297735	NM_001018024.3(CMC4):c.193T>C (p.Ser65Pro)	CMC4 (S65P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291676	NM_001018024.3(CMC4):c.8A>G (p.Gln3Arg)	CMC4 (Q3R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281900	NM_001018024.3(CMC4):c.71T>C (p.Met24Thr)	CMC4 (M24T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265343	NM_001018024.3(CMC4):c.106C>T (p.Arg36Cys)	CMC4 (R36C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255691	NM_001018024.3(CMC4):c.46A>C (p.Lys16Gln)	CMC4 (K16Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1879781	GRCh37/hg19 Xq28(chrX:154261678-154305564)x0	BRCC3, CMC4 +2 more	Copy number loss	not provided	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 1808711	GRCh37/hg19 Xq28(chrX:154120621-154565718)x1	BRCC3, CLIC2 +6 more	Copy number loss	not provided	GPathogenic
Select item 1808693	GRCh37/hg19 Xq28(chrX:154112020-154617577)x3	F8A1, BRCC3 +10 more	Copy number gain	not provided	GPathogenic
Select item 1808575	GRCh37/hg19 Xq28(chrX:154110981-154565718)x2	BRCC3, CLIC2 +8 more	Copy number gain	not provided	GPathogenic
Select item 1808406	GRCh37/hg19 Xq28(chrX:154296580-154447527)x2	BRCC3, CMC4 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1808052	GRCh37/hg19 Xq28(chrX:154296582-154441876)x2	BRCC3, CMC4 +1 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	HCFC1-AS1, IDH3G +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 1340478	GRCh37/hg19 Xq28(chrX:154296576-154447527)x2	BRCC3, CMC4 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1340345	GRCh37/hg19 Xq28(chrX:154120629-154565718)x0	BRCC3, CLIC2 +6 more	Copy number loss	not provided	GPathogenic
Select item 1340220	GRCh37/hg19 Xq28(chrX:154289110-154447538)x3	BRCC3, CMC4 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1339850	GRCh37/hg19 Xq28(chrX:154124170-154528181)x3	BRCC3, CLIC2 +6 more	Copy number gain	Chromosome Xq28 duplication syndrome	Gnot provided
Select item 1205949	NM_001018024.3(CMC4):c.149G>C (p.Cys50Ser)	CMC4 (C50S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 980881	GRCh37/hg19 Xq28(chrX:154078238-154563469)x3	BRCC3, CLIC2 +8 more	Copy number gain	not provided	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 979243	GRCh37/hg19 Xq28(chrX:154290230-154441876)x3	CMC4, MTCP1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 974716	NM_023934.4(FUNDC2):c.361-2517_0del	CMC4, FUNDC2 +3 more	Deletion	Megacolon	GUncertain significance
Select item 929354	GRCh37/hg19 Xq28(chrX:154051891-155236747)x3	BRCC3, CLIC2 +14 more	Copy number gain	See cases	GPathogenic
Select item 929335	GRCh37/hg19 Xq28(chrX:154130223-154563104)x3	BRCC3, CLIC2 +6 more	Copy number gain	See cases	GPathogenic
Select item 916135	GRCh37/hg19 Xq25-28(chrX:122132166-155097214)	APLN, ABCD1 +221 more	Copy number loss	Intellectual disability	GLikely pathogenic
Select item 816417	GRCh37/hg19 Xq28(chrX:154252722-154343784)x0	MTCP1, FUNDC2 +2 more	Copy number loss	not provided	GLikely pathogenic
Select item 816416	GRCh37/hg19 Xq28(chrX:154120620-154617577)x3	H2AB2, FUNDC2 +8 more	Copy number gain	not provided	GPathogenic
Select item 816415	GRCh37/hg19 Xq28(chrX:154112019-154625699)x2	F8A1, MTCP1 +10 more	Copy number gain	not provided	GPathogenic
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 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 687176	GRCh37/hg19 Xq28(chrX:154238385-154339708)x2	BRCC3, CMC4 +3 more	Copy number gain	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 687057	GRCh37/hg19 Xq28(chrX:154117563-154633634)x3	BRCC3, CLIC2 +8 more	Copy number gain	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 684993	GRCh37/hg19 Xq28(chrX:154117563-154617602)x2	BRCC3, CLIC2 +8 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 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 564945	GRCh37/hg19 Xq28(chrX:154296581-154443920)x2	BRCC3, CMC4 +1 more	Copy number gain	not provided	GUncertain significance
Select item 564944	GRCh37/hg19 Xq28(chrX:154120640-154565718)x1	BRCC3, CLIC2 +6 more	Copy number loss	not provided	GPathogenic
Select item 564943	GRCh37/hg19 Xq28(chrX:154120620-154568774)x2	F8, VBP1 +6 more	Copy number gain	not provided	GPathogenic
Select item 564942	GRCh37/hg19 Xq28(chrX:154110363-154417230)x2	MTCP1, BRCC3 +5 more	Copy number gain	not provided	GLikely pathogenic
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 560116	Single allele	BRCC3, CLIC2 +7 more	Deletion	not provided	GLikely pathogenic
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

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