ClinVar for Gene (Select 139728) - 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 3351910	NM_001366977.1(PNCK):c.276-42C>T	PNCK	Single nucleotide variant (intron variant)	PNCK-related condition	GLikely benign
Select item 3246429	NC_000023.10:g.(?_152853823)_(152981164_?)dup	BCAP31, CCNQ +3 more	Duplication	not provided	GUncertain significance
Select item 3245014	NC_000023.10:g.(?_152482081)_(153416424_?)del	ABCD1, ARHGAP4 +27 more	Deletion	Severe neonatal-onset encephalopathy with microcephaly	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 3215877	NM_001366977.1(PNCK):c.713A>G (p.Asp238Gly)	PNCK (D238G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215876	NM_001366977.1(PNCK):c.598G>A (p.Val200Ile)	PNCK (V283I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215875	NM_001366977.1(PNCK):c.115C>T (p.His39Tyr)	PNCK (H39Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215873	NM_001366977.1(PNCK):c.865C>T (p.Arg289Trp)	PNCK (R289W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215872	NM_001366977.1(PNCK):c.797G>A (p.Arg266Gln)	PNCK (R349Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3066030	NC_000023.11:g.153670446_154329698dup	ABCD1, ARHGAP4 +59 more	Duplication	Chromosome Xq28 duplication syndrome	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 2685774	GRCh37/hg19 Xq28(chrX:152916854-154775938)x2	GDI1, H2AB1 +58 more	Copy number gain	not provided	GPathogenic
Select item 2685773	GRCh37/hg19 Xq28(chrX:152713659-153005670)x2	ABCD1, ATP2B3 +7 more	Copy number gain	not provided	GUncertain significance
Select item 2685772	GRCh37/hg19 Xq28(chrX:152707335-153624154)x2	ABCD1, ARHGAP4 +29 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 2661706	NM_001366977.1(PNCK):c.1002C>T (p.Gly334=)	PNCK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2463153	NM_001366977.1(PNCK):c.334G>A (p.Asp112Asn)	PNCK (D195N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425388	NC_000023.10:g.(?_152770090)_(152954311_?)dup	ATP2B3, BGN +4 more	Duplication	Creatine transporter deficiency	GUncertain significance
Select item 2423563	NC_000023.10:g.(?_152014869)_(154563736_?)del	CMC4, CTAG1A +68 more	Deletion	Dyskeratosis congenita	GUncertain significance
Select item 2422159	NC_000023.10:g.(?_152014869)_(153363122_?)dup	ABCD1, ARHGAP4 +31 more	Duplication	not provided	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 2401761	NM_001039582.3(PNCK):c.94T>C (p.Trp32Arg)	PNCK (W32R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367015	NM_001039582.3(PNCK):c.38G>A (p.Cys13Tyr)	PNCK (C13Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341793	NM_001366977.1(PNCK):c.866G>A (p.Arg289Gln)	PNCK (R289Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2324273	NM_001366977.1(PNCK):c.581A>C (p.Asp194Ala)	PNCK (D194A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322911	NM_001366977.1(PNCK):c.-2A>G	PNCK (D17G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222352	NM_001366977.1(PNCK):c.112G>T (p.Ala38Ser)	PNCK (A38S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1809108	GRCh37/hg19 Xq28(chrX:152805142-153200052)x2	ABCD1, ARHGAP4 +14 more	Copy number gain	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 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 1705944	GRCh37/hg19 Xq28(chrX:152228560-153146794)x2	DUSP9, HAUS7 +20 more	Copy number gain	Autism	GUncertain significance
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 1703577	GRCh37/hg19 Xq28(chrX:152815772-153624215)	ABCD1, ARHGAP4 +26 more	Copy number gain	Global developmental delay	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 1684654	Single allele	HCFC1-AS1, IDH3G +200 more	Deletion	Ectodermal dysplasia and immunodeficiency 1 +5 more	GPathogenic
Select item 1526871	GRCh37/hg19 Xq28(chrX:152740638-152942804)	ATP2B3, BGN +5 more	Copy number gain	not specified	GUncertain significance
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	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 1341091	GRCh37/hg19 Xq28(chrX:152740984-153431748)x2	ABCD1, ARHGAP4 +23 more	Copy number gain	not provided	GPathogenic
Select item 1247495	NM_001366977.1(PNCK):c.68+14C>T	PNCK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	KLHL34, KLHL4 +818 more	Copy number loss	not provided	GPathogenic
Select item 997082	GRCh37/hg19 Xq28(chrX:152649825-152988014)	ATP2B3, BCAP31 +10 more	Copy number gain	Rett syndrome	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 980886	GRCh37/hg19 Xq28(chrX:152631130-153240286)x3	ABCD1, ARHGAP4 +23 more	Copy number gain	not provided	GUncertain significance
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 816411	GRCh37/hg19 Xq28(chrX:152516781-153368573)x2	SSR4, ZNF275 +26 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 782180	NM_001366977.1(PNCK):c.957C>T (p.Gly319=)	PNCK	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 688165	GRCh37/hg19 Xq28(chrX:152765599-152970126)x3	ATP2B3, BCAP31 +5 more	Copy number gain	not provided	GUncertain significance
Select item 688137	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	ARHGAP36, ARHGAP4 +818 more	Copy number loss	not provided	GPathogenic
Select item 687898	GRCh37/hg19 Xq28(chrX:152405258-152942804)x3	ATP2B3, BGN +10 more	Copy number gain	not provided	GUncertain significance
Select item 687763	GRCh37/hg19 Xq28(chrX:152398094-153086545)x2	ABCD1, ATP2B3 +18 more	Copy number gain	not provided	GUncertain significance
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 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 626291	Single allele	AKAP14, CCDC22 +733 more	Duplication	Syndromic X-linked intellectual disability Lubs type	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 565263	GRCh37/hg19 Xq28(chrX:152628304-153594168)x2	OPN1MW2, FLNA +31 more	Copy number gain	not provided	GPathogenic
Select item 565261	GRCh37/hg19 Xq28(chrX:152398094-153176959)x2	IDH3G, PDZD4 +21 more	Copy number gain	not provided	GUncertain significance
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 560122	Single allele	ABCD1, ARHGAP4 +14 more	Duplication	not provided	GUncertain significance
Select item 522922	NM_001366977.1(PNCK):c.229G>A (p.Glu77Lys)	PNCK (E94K +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 443472	GRCh37/hg19 Xq28(chrX:152559822-153104847)x3	ABCD1, ATP2B3 +16 more	Copy number gain	See cases	GUncertain significance
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

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