ClinVar for Gene (Select 139599) - 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 3292675	NM_138703.5(MAGEE2):c.905G>A (p.Gly302Asp)	MAGEE2 (G302D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292674	NM_138703.5(MAGEE2):c.411C>G (p.Asp137Glu)	MAGEE2 (D137E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292672	NM_138703.5(MAGEE2):c.1451T>A (p.Met484Lys)	MAGEE2 (M484K)	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 3122209	NM_138703.5(MAGEE2):c.880A>G (p.Thr294Ala)	MAGEE2 (T294A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3122208	NM_138703.5(MAGEE2):c.659G>C (p.Gly220Ala)	MAGEE2 (G220A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122207	NM_138703.5(MAGEE2):c.194C>G (p.Pro65Arg)	MAGEE2 (P65R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122206	NM_138703.5(MAGEE2):c.1549A>T (p.Met517Leu)	MAGEE2 (M517L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122205	NM_138703.5(MAGEE2):c.1549A>C (p.Met517Leu)	MAGEE2 (M517L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122204	NM_138703.5(MAGEE2):c.1385A>G (p.Glu462Gly)	MAGEE2 (E462G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122203	NM_138703.5(MAGEE2):c.1370A>G (p.Tyr457Cys)	MAGEE2 (Y457C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122202	NM_138703.5(MAGEE2):c.136T>C (p.Cys46Arg)	MAGEE2 (C46R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122201	NM_138703.5(MAGEE2):c.1220T>A (p.Ile407Asn)	MAGEE2 (I407N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122200	NM_138703.5(MAGEE2):c.1162G>A (p.Glu388Lys)	MAGEE2 (E388K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122199	NM_138703.5(MAGEE2):c.112A>T (p.Met38Leu)	MAGEE2 (M38L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122198	NM_138703.5(MAGEE2):c.1015G>A (p.Ala339Thr)	MAGEE2 (A339T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062482	GRCh37/hg19 Xq11.1-21.1(chrX:61877278-79122848)	ABCB7, AMER1 +92 more	Copy number gain	not specified	GPathogenic
Select item 3062468	GRCh37/hg19 Xq13.1-22.1(chrX:68040342-100863081)	ABCB7, APOOL +121 more	Copy number gain	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 2685711	GRCh37/hg19 Xq13.2-21.31(chrX:73620711-90395211)x1	ABCB7, APOOL +39 more	Copy number loss	not provided	GPathogenic
Select item 2684994	GRCh37/hg19 Xq13.3(chrX:74321567-75907003)x3	ABCB7, MAGEE1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2663780	NC_000023.11:g.(?_66445907)_(78172208_?)dup	ABCB7, AR +206 more	Duplication	Xq13q21 duplication	GPathogenic
Select item 2660949	NM_138703.5(MAGEE2):c.603C>T (p.Asp201=)	MAGEE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660948	NM_138703.5(MAGEE2):c.720G>A (p.Pro240=)	MAGEE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2552313	NM_138703.5(MAGEE2):c.491T>C (p.Ile164Thr)	MAGEE2 (I164T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2545090	NM_138703.5(MAGEE2):c.578G>C (p.Arg193Pro)	MAGEE2 (R193P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527234	NM_138703.5(MAGEE2):c.119T>C (p.Val40Ala)	MAGEE2 (V40A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509080	NM_138703.5(MAGEE2):c.58G>A (p.Gly20Ser)	MAGEE2 (G20S)	Single nucleotide variant (missense variant)	not specified	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 2474016	NM_138703.5(MAGEE2):c.158C>G (p.Ser53Cys)	MAGEE2 (S53C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402823	NM_138703.5(MAGEE2):c.184G>T (p.Val62Phe)	MAGEE2 (V62F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380582	NM_138703.5(MAGEE2):c.1021A>G (p.Thr341Ala)	MAGEE2 (T341A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366828	NM_138703.5(MAGEE2):c.436G>A (p.Val146Ile)	MAGEE2 (V146I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306120	NM_138703.5(MAGEE2):c.868G>A (p.Glu290Lys)	MAGEE2 (E290K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305753	NM_138703.5(MAGEE2):c.987G>A (p.Met329Ile)	MAGEE2 (M329I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289772	NM_138703.5(MAGEE2):c.478C>T (p.Arg160Trp)	MAGEE2 (R160W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281060	NM_138703.5(MAGEE2):c.508G>A (p.Glu170Lys)	MAGEE2 (E170K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279260	NM_138703.5(MAGEE2):c.1169A>T (p.Gln390Leu)	MAGEE2 (Q390L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254269	NM_138703.5(MAGEE2):c.226T>A (p.Ser76Thr)	MAGEE2 (S76T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809065	GRCh37/hg19 Xq13.3-21.1(chrX:74946710-76904755)x3	ATRX, FGF16 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1808996	GRCh37/hg19 Xq13.3(chrX:74938239-75361671)x3	MAGEE2	Copy number gain	not provided	GUncertain significance
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	ABCB7, ABCD1 +790 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 1526815	GRCh37/hg19 Xq13.2-21.31(chrX:72095006-88455505)	APOOL, ABCB7 +49 more	Copy number gain	not specified	GUncertain significance
Select item 1526804	GRCh37/hg19 Xq11.1-21.1(chrX:61974855-79123671)	AWAT1, AWAT2 +92 more	Copy number gain	not specified	GPathogenic
Select item 1526803	GRCh37/hg19 Xq11.1-21.1(chrX:61877278-79123671)	NALF2, NAP1L2 +92 more	Copy number gain	not specified	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 782729	NM_138703.5(MAGEE2):c.1212A>G (p.Val404=)	MAGEE2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 771227	NM_138703.5(MAGEE2):c.711G>A (p.Glu237=)	MAGEE2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 694513	46,Y,inv(X)(p21.1q13.3)	ABCB7, AKAP4 +268 more	Inversion	Elevated circulating creatine kinase concentration	GLikely pathogenic
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 686630	GRCh37/hg19 Xq13.3-21.31(chrX:74667077-90312981)x1	APOOL, ATP7A +34 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 684962	GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1	ABCB7, AKAP4 +281 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 564772	GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2	RPS6KA6, UPRT +413 more	Copy number gain	not provided	GPathogenic
Select item 545551	NC_000023.10:g.36649710_136649711del100000002insG	AMER1, AMMECR1 +541 more	Indel	Heterotaxy, visceral, 1, X-linked	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 443946	GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1	EIF1AX, EIF2S3 +539 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 442832	GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1	ABCB7, AKAP4 +300 more	Copy number loss	See cases	GPathogenic
Select item 442724	GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1	AP1S2, APEX2 +731 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 442321	GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3	YIPF6, ZBTB33 +505 more	Copy number gain	See cases	GPathogenic
Select item 442018	GRCh37/hg19 Xp11.21-q21.1(chrX:55240087-78225374)x1	ABCB7, AMER1 +104 more	Copy number loss	See cases	GPathogenic
Select item 441843	GRCh37/hg19 Xq13.3-24(chrX:74560735-116609286)	PLP1, PLS3 +158 more	Copy number loss	See cases	GPathogenic
Select item 425520	GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2	BEX4, BEX5 +566 more	Copy number gain	not provided	GUncertain significance
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
Select item 395686	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4	BEX1, BEX2 +819 more	Copy number gain	See cases	GPathogenic
Select item 394706	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 394672	GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1	ABCB7, ADGRG2 +818 more	Copy number loss	See cases	GPathogenic
Select item 394066	GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4	TCEAL8, TCEAL9 +299 more	Copy number gain	See cases	GPathogenic
Select item 394013	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	TMEM255A, TMEM31 +819 more	Copy number gain	See cases	GPathogenic
Select item 253616	GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	ABCB7, ABCD1 +783 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	PNMA3, PLP1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253572	GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	MAGEB4, MAGEB5 +818 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	RPS6KA3, RPS6KA6 +819 more	Copy number gain	See cases	GPathogenic
Select item 253458	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253438	GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	RRAGB, RS1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253436	GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3	ABCB7, AKAP4 +250 more	Copy number gain	See cases	GPathogenic

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