ClinVar for Gene (Select 64648) - 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 3321820	NM_032417.4(SPANXD):c.95A>G (p.Tyr32Cys)	SPANXD (Y32C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321819	NM_032417.4(SPANXD):c.38G>C (p.Ser13Thr)	SPANXD (S13T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321818	NM_032417.4(SPANXD):c.161G>A (p.Arg54His)	SPANXD (R54H)	Single nucleotide variant (missense variant)	not specified	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 3168132	NM_032417.4(SPANXD):c.92G>C (p.Gly31Ala)	SPANXD (G31A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168131	NM_032417.4(SPANXD):c.76C>T (p.Pro26Ser)	SPANXD (P26S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168130	NM_032417.4(SPANXD):c.6C>A (p.Asp2Glu)	SPANXD (D2E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168129	NM_032417.4(SPANXD):c.29T>A (p.Val10Glu)	SPANXD (V10E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168128	NM_032417.4(SPANXD):c.28G>T (p.Val10Leu)	SPANXD (V10L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168127	NM_032417.4(SPANXD):c.119A>G (p.Lys40Arg)	SPANXD (K40R)	Single nucleotide variant (missense variant)	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 3148879	GRCh37/hg19 Xq27.1-27.3(chrX:139794153-145119351)x2	SPANXC, SPANXN1 +15 more	Copy number gain	not provided	GUncertain significance
Select item 3148864	GRCh37/hg19 Xq25-28(chrX:121656905-155233098)x1	SLITRK2, SLITRK4 +221 more	Copy number loss	not provided	GPathogenic
Select item 3062561	GRCh37/hg19 Xq26.3-27.3(chrX:137551658-145685497)	ATP11C, CDR1 +21 more	Copy number loss	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	CT47A5, NXF3 +488 more	Copy number gain	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 2685018	GRCh37/hg19 Xq27.2(chrX:140774849-141011857)x3	MAGEC1, MAGEC3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2661550	NM_032417.4(SPANXD):c.7A>G (p.Lys3Glu)	SPANXD (K3E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2661549	NM_032417.4(SPANXD):c.57C>T (p.Asn19=)	SPANXD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661548	NM_032417.4(SPANXD):c.160C>A (p.Arg54Ser)	SPANXD (R54S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2596735	NM_032417.4(SPANXD):c.221A>G (p.Lys74Arg)	SPANXD (K74R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2567427	NM_032417.4(SPANXD):c.5A>G (p.Asp2Gly)	SPANXD (D2G)	Single nucleotide variant (missense variant)	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 2385784	NM_032417.4(SPANXD):c.58G>A (p.Glu20Lys)	SPANXD (E20K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369627	NM_032417.4(SPANXD):c.122A>G (p.Lys41Arg)	SPANXD (K41R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343649	NM_032417.4(SPANXD):c.71T>C (p.Met24Thr)	SPANXD (M24T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343648	NM_032417.4(SPANXD):c.67G>A (p.Glu23Lys)	SPANXD (E23K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271312	NM_032417.4(SPANXD):c.69G>C (p.Glu23Asp)	SPANXD (E23D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250482	NM_032417.4(SPANXD):c.289A>G (p.Lys97Glu)	SPANXD (K97E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217057	NM_032417.4(SPANXD):c.62C>T (p.Ala21Val)	SPANXD (A21V)	Single nucleotide variant (missense variant)	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 1808671	GRCh37/hg19 Xq27.1-28(chrX:139493806-148855992)x1	AFF2, CDR1 +34 more	Copy number loss	not provided	GPathogenic
Select item 1808312	GRCh37/hg19 Xq27.2(chrX:140683975-140951283)x4	MAGEC3, SPANXD	Copy number gain	not provided	GUncertain significance
Select item 1807801	GRCh37/hg19 Xq27.1-27.3(chrX:139510129-145119351)x3	CDR1, LDOC1 +16 more	Copy number gain	not provided	GPathogenic
Select item 1807692	GRCh37/hg19 Xq27.1-28(chrX:139504564-149382013)x2	AFF2, CDR1 +37 more	Copy number gain	not provided	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 1526860	GRCh37/hg19 Xq27.1-27.3(chrX:139493805-145133362)	CDR1, LDOC1 +16 more	Copy number loss	not specified	GLikely pathogenic
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 1340595	GRCh37/hg19 Xq27.2(chrX:140666285-141043542)x2	MAGEC1, MAGEC3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1340056	GRCh37/hg19 Xq27.2(chrX:140779597-141011857)x2	MAGEC1, MAGEC3 +1 more	Copy number gain	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 1180513	GRCh37/hg19 Xq27.1-28(chrX:139484271-149442579)x1	AFF2, CDR1 +37 more	Copy number loss	not provided	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 929357	GRCh37/hg19 Xq27.1-27.2(chrX:140210323-140932981)x3	LDOC1, MAGEC3 +4 more	Copy number gain	See cases	GUncertain significance
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 688458	GRCh37/hg19 Xq27.1-28(chrX:138120235-147240344)x2	ATP11C, CDR1 +31 more	Copy number gain	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 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 685716	GRCh37/hg19 Xq27.1-28(chrX:139513270-149234353)x2	AFF2, CDR1 +37 more	Copy number gain	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 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 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 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 442946	GRCh37/hg19 Xq27.1-27.2(chrX:138768091-140805967)x3	ATP11C, CDR1 +9 more	Copy number gain	See cases	GLikely benign
Select item 442945	GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1	ABCD1, ACSL4 +410 more	Copy number loss	See cases	GPathogenic
Select item 442821	GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3	ACSL4, ACTRT1 +303 more	Copy number gain	See cases	GUncertain significance
Select item 442724	GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1	AP1S2, APEX2 +731 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 442531	GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3	ABCB7, ABCD1 +523 more	Copy number gain	See cases	GPathogenic
Select item 442422	GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1	ATP11C, ATP1B4 +393 more	Copy number loss	See cases	GPathogenic
Select item 442321	GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3	YIPF6, ZBTB33 +505 more	Copy number gain	See cases	GPathogenic
Select item 442262	GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1	ABCD1, ACTRT1 +266 more	Copy number loss	See cases	GPathogenic
Select item 442001	GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1	ABCD1, ACSL4 +406 more	Copy number loss	See cases	GPathogenic
Select item 395718	GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1	TMLHE, TMSB15A +819 more	Copy number loss	See cases	GPathogenic
Select item 395687	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic

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