ClinVar for Gene (Select 4103) - 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 3292591	NM_001011548.1(MAGEA4):c.613A>G (p.Ile205Val)	MAGEA4 (I205V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292590	NM_001011548.1(MAGEA4):c.449T>A (p.Val150Glu)	MAGEA4 (V150E)	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 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 3122078	NM_001011548.1(MAGEA4):c.901G>T (p.Ala301Ser)	MAGEA4 (A301S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3122077	NM_001011548.1(MAGEA4):c.806G>A (p.Arg269His)	MAGEA4 (R269H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122076	NM_001011548.1(MAGEA4):c.796A>G (p.Asn266Asp)	MAGEA4 (N266D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3122074	NM_001011548.1(MAGEA4):c.574G>T (p.Gly192Cys)	MAGEA4 (G192C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122073	NM_001011548.1(MAGEA4):c.535C>G (p.Leu179Val)	MAGEA4 (L179V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122072	NM_001011548.1(MAGEA4):c.203G>A (p.Gly68Glu)	MAGEA4 (G68E)	Single nucleotide variant (missense variant)	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 2685770	GRCh37/hg19 Xq28(chrX:150912962-151423949)x2	CNGA2, GABRA3 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2685769	GRCh37/hg19 Xq28(chrX:150542033-151131340)x2	CNGA2, FATE1 +6 more	Copy number gain	not provided	GUncertain significance
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 2661659	NM_001011548.1(MAGEA4):c.884A>G (p.Asn295Ser)	MAGEA4 (N295S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2661658	NM_001011548.1(MAGEA4):c.789C>T (p.Pro263=)	MAGEA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661657	NM_001011548.1(MAGEA4):c.468C>T (p.Ser156=)	MAGEA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661656	NM_001011548.1(MAGEA4):c.288A>G (p.Pro96=)	MAGEA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661655	NM_001011548.1(MAGEA4):c.231C>T (p.Ser77=)	MAGEA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2608118	NM_001011548.1(MAGEA4):c.551G>A (p.Gly184Asp)	MAGEA4 (G184D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526366	NM_001011548.1(MAGEA4):c.499G>T (p.Val167Leu)	MAGEA4 (V167L)	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 2470169	NM_001011548.1(MAGEA4):c.649G>A (p.Ala217Thr)	MAGEA4 (A217T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410428	NM_001011548.1(MAGEA4):c.377G>A (p.Arg126Gln)	MAGEA4 (R126Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394191	NM_001011548.1(MAGEA4):c.713C>G (p.Thr238Ser)	MAGEA4 (T238S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2393767	NM_001011548.1(MAGEA4):c.691G>T (p.Val231Leu)	MAGEA4 (V231L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381817	NM_001011548.1(MAGEA4):c.805C>T (p.Arg269Cys)	MAGEA4 (R269C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377750	NM_001011548.1(MAGEA4):c.296C>G (p.Ser99Trp)	MAGEA4 (S99W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372028	NM_001011548.1(MAGEA4):c.218C>T (p.Pro73Leu)	MAGEA4 (P73L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365968	NM_001011548.1(MAGEA4):c.940G>A (p.Glu314Lys)	MAGEA4 (E314K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342768	NM_001011548.1(MAGEA4):c.718T>C (p.Tyr240His)	MAGEA4 (Y240H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338508	NM_001011548.1(MAGEA4):c.268A>G (p.Ser90Gly)	MAGEA4 (S90G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335862	NM_001011548.1(MAGEA4):c.776A>G (p.Tyr259Cys)	MAGEA4 (Y259C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332792	NM_001011548.1(MAGEA4):c.917G>A (p.Arg306His)	MAGEA4 (R306H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303898	NM_001011548.1(MAGEA4):c.286C>T (p.Pro96Ser)	MAGEA4 (P96S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277690	NM_001011548.1(MAGEA4):c.779G>A (p.Arg260Gln)	MAGEA4 (R260Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2234597	NM_001011548.1(MAGEA4):c.791G>A (p.Gly264Asp)	MAGEA4 (G264D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224782	NM_001011548.1(MAGEA4):c.803C>T (p.Ala268Val)	MAGEA4 (A268V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205778	NM_001011548.1(MAGEA4):c.296C>T (p.Ser99Leu)	MAGEA4 (S99L)	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 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 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 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	KLHL34, KLHL4 +818 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 916135	GRCh37/hg19 Xq25-28(chrX:122132166-155097214)	APLN, ABCD1 +221 more	Copy number loss	Intellectual disability	GLikely pathogenic
Select item 816408	GRCh37/hg19 Xq28(chrX:151074416-151823141)x2	GABRA3, GABRE +6 more	Copy number gain	not provided	GUncertain significance
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 722413	NM_001011548.1(MAGEA4):c.809A>G (p.Tyr270Cys)	MAGEA4 (Y270C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 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 565260	GRCh37/hg19 Xq28(chrX:150876796-151280328)x2	CNGA2, GABRE +3 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 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 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 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

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