MAGEE2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 488014	Single allele	ARSF, CFAP47 +2632 more	Duplication	Autism +1 more	GPathogenic
Select item 146764	GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1	ABCB7, ABCD1 +2634 more	Copy number loss	See cases	GPathogenic
Select item 160983	GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	LOC130067918, LOC130067919 +2633 more	Copy number loss	See cases	GPathogenic
Select item 160897	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	LOC130068528, LOC130068529 +2634 more	Copy number gain	See cases	GPathogenic
Select item 160890	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	ARMCX5, ARMCX5-GPRASP2 +2634 more	Copy number loss	See cases	GPathogenic
Select item 148051	GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3	LOC130068369, LOC130068370 +1399 more	Copy number gain	See cases	GPathogenic
Select item 144172	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4	APOO, APOOL +2634 more	Copy number gain	See cases	GPathogenic
Select item 57087	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	LOC130068308, LOC130068309 +2634 more	Copy number loss	See cases	GPathogenic
Select item 57086	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	ABCB7, ABCD1 +2634 more	Copy number gain	See cases	GPathogenic
Select item 154558	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3	LOC126863325, LOC126863326 +2633 more	Copy number gain	See cases	GPathogenic
Select item 150510	GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1	LOC130067920, LOC130067921 +1476 more	Copy number loss	See cases	GPathogenic
Select item 148821	GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1	LOC126863242, LOC126863243 +1629 more	Copy number loss	See cases	GPathogenic
Select item 146861	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1	LOC130068075, LOC130068076 +2633 more	Copy number loss	See cases	GPathogenic
Select item 146857	GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708)	LOC130068153, LOC130068154 +1933 more	Copy number loss	See cases	GPathogenic
Select item 144465	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1	LOC130068278, LOC130068279 +2633 more	Copy number loss	See cases	GPathogenic
Select item 144429	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3	LOC130068310, LOC130068311 +2633 more	Copy number gain	See cases	GPathogenic
Select item 144310	GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1	VAMP7, VBP1 +2632 more	Copy number loss	See cases	GPathogenic
Select item 161089	GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1	ABCB7, ABCD1 +2633 more	Copy number loss	See cases	GPathogenic
Select item 57161	GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1	LOC107988022, LOC107988024 +2629 more	Copy number loss	See cases	GPathogenic
Select item 57160	GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3	LOC130067944, LOC130067945 +2629 more	Copy number gain	See cases	GPathogenic
Select item 152900	GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3	ABCB7, ABCD1 +2634 more	Copy number gain	See cases	GPathogenic
Select item 145995	GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1	ABCB7, ABCD1 +2634 more	Copy number loss	See cases	GPathogenic
Select item 145162	GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3	LOC130067929, LOC130067930 +2633 more	Copy number gain	See cases	GPathogenic
Select item 58553	GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3	LOC130068219, LOC130068220 +2633 more	Copy number gain	See cases	GPathogenic
Select item 161091	GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	ABCB7, ABCD1 +2632 more	Copy number gain	See cases	GPathogenic
Select item 161088	GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1	VAMP7, VBP1 +2632 more	Copy number loss	See cases	GPathogenic
Select item 58555	GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3	LOC126863224, LOC126863225 +2632 more	Copy number gain	See cases	GPathogenic
Select item 147257	GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1	LOC121627971, LOC121627972 +2633 more	Copy number loss	See cases	GPathogenic
Select item 155374	GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1	FUNDC1, FUNDC2 +2633 more	Copy number loss	See cases	GPathogenic
Select item 155366	GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3	LOC126863244, LOC126863245 +2633 more	Copy number gain	See cases	GPathogenic
Select item 153937	GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3	MAGED2, MAGED4 +1799 more	Copy number gain	See cases	GPathogenic
Select item 155152	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3	ABCB7, ABCD1 +2633 more	Copy number gain	See cases	GPathogenic
Select item 152158	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1	LOC130068098, LOC130068099 +2633 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 152157	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4	ABCB7, ABCD1 +2633 more	Copy number gain	See cases	GPathogenic
Select item 151130	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3	LOC126863315, LOC126863316 +2633 more	Copy number gain	See cases	GPathogenic
Select item 59200	GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1	LOC125467739, LOC125467740 +1494 more	Copy number loss	See cases	GPathogenic
Select item 150422	GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1	LOC130068055, LOC130068056 +2612 more	Copy number loss	See cases	GPathogenic
Select item 152899	GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3	CNKSR2, COL4A5 +2604 more	Copy number gain	See cases	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 147627	GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3	LOC130068152, LOC130068153 +2594 more	Copy number gain	See cases	GPathogenic
Select item 147683	GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2	LOC130068468, LOC130068469 +2594 more	Copy number gain	See cases	GPathogenic
Select item 58586	GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3	LOC130067984, LOC130067985 +2596 more	Copy number gain	See cases	GPathogenic
Select item 57225	GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2	ABCB7, ABCD1 +2586 more	Copy number gain	See cases	GPathogenic
Select item 149705	GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1	ABCB7, ACE2 +2047 more	Copy number loss	See cases	GPathogenic
Select item 146240	GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1	LOC130068242, LOC130068243 +2103 more	Copy number loss	See cases	GPathogenic
Select item 145974	GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1	LOC126863280, LOC126863281 +2099 more	Copy number loss	See cases	GPathogenic
Select item 148340	GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1	IGBP1, IL2RG +640 more	Copy number loss	See cases	GPathogenic
Select item 153303	GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604)	LOC130068457, LOC130068458 +824 more	Copy number loss	See cases	GPathogenic
Select item 155282	GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1	P2RY10, P2RY4 +1590 more	Copy number loss	See cases	GPathogenic
Select item 145980	GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1	HDAC8, HDX +410 more	Copy number loss	See cases	GPathogenic
Select item 155064	GRCh38/hg38 Xp11.21-q13.3(chrX:56431359-76557419)x1	ABCB7, AMER1 +269 more	Copy number loss	See cases	GPathogenic
Select item 57923	GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1	ABCB7, ABCD1 +1476 more	Copy number loss	See cases	GPathogenic
Select item 148479	GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3	ABCB7, ABCD1 +1467 more	Copy number gain	See cases	GPathogenic
Select item 150589	GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3	LOC130068612, LOC130068613 +1467 more	Copy number gain	See cases	GPathogenic
Select item 145167	GRCh38/hg38 Xq11.1-21.1(chrX:62712219-78605009)x3	ABCB7, AMER1 +263 more	Copy number gain	See cases	GPathogenic
Select item 144543	GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3	LOC126863288, LOC126863289 +1466 more	Copy number gain	See cases	GPathogenic
Select item 57924	GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1	LOC130068438, LOC130068439 +1464 more	Copy number loss	See cases	GPathogenic
Select item 2663780	NC_000023.11:g.(?_66445907)_(78172208_?)dup	ABCB7, AR +206 more	Duplication	Xq13q21 duplication	GPathogenic
Select item 154251	GRCh38/hg38 Xq12-21.1(chrX:66445907-78172208)x3	ABCB7, AR +206 more	Copy number gain	See cases	GPathogenic
Select item 58640	GRCh38/hg38 Xq12-21.1(chrX:67621041-76868590)x2	FTX, GCNA +175 more	Copy number gain	See cases	GPathogenic
Select item 145624	GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1	ABCB7, ABCD1 +1254 more	Copy number loss	See cases	GPathogenic
Select item 155357	GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1	ABCB7, ABCD1 +1249 more	Copy number loss	See cases	GPathogenic
Select item 148019	GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1	LOC130068496, LOC130068497 +1244 more	Copy number loss	See cases	GPathogenic
Select item 148028	GRCh38/hg38 Xq13.3(chrX:75449792-76140442)x2	LOC125467765, LOC130068453 +2 more	Copy number gain	See cases	GUncertain significance
Select item 148471	GRCh38/hg38 Xq13.3(chrX:75624941-76140442)x2	LOC125467765, MAGEE2	Copy number gain	See cases	GLikely benign
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 3292672	NM_138703.5(MAGEE2):c.1451T>A (p.Met484Lys)	MAGEE2 (M484K)	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 3122201	NM_138703.5(MAGEE2):c.1220T>A (p.Ile407Asn)	MAGEE2 (I407N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782729	NM_138703.5(MAGEE2):c.1212A>G (p.Val404=)	MAGEE2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 3122200	NM_138703.5(MAGEE2):c.1162G>A (p.Glu388Lys)	MAGEE2 (E388K)	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 3122198	NM_138703.5(MAGEE2):c.1015G>A (p.Ala339Thr)	MAGEE2 (A339T)	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 3292675	NM_138703.5(MAGEE2):c.905G>A (p.Gly302Asp)	MAGEE2 (G302D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2306120	NM_138703.5(MAGEE2):c.868G>A (p.Glu290Lys)	MAGEE2 (E290K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2660948	NM_138703.5(MAGEE2):c.720G>A (p.Pro240=)	MAGEE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 771227	NM_138703.5(MAGEE2):c.711G>A (p.Glu237=)	MAGEE2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2660949	NM_138703.5(MAGEE2):c.603C>T (p.Asp201=)	MAGEE2	Single nucleotide variant (synonymous variant)	not provided	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 2281060	NM_138703.5(MAGEE2):c.508G>A (p.Glu170Lys)	MAGEE2 (E170K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2289772	NM_138703.5(MAGEE2):c.478C>T (p.Arg160Trp)	MAGEE2 (R160W)	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 3292674	NM_138703.5(MAGEE2):c.411C>G (p.Asp137Glu)	MAGEE2 (D137E)	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 3122207	NM_138703.5(MAGEE2):c.194C>G (p.Pro65Arg)	MAGEE2 (P65R)	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 2474016	NM_138703.5(MAGEE2):c.158C>G (p.Ser53Cys)	MAGEE2 (S53C)	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 2527234	NM_138703.5(MAGEE2):c.119T>C (p.Val40Ala)	MAGEE2 (V40A)	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 2509080	NM_138703.5(MAGEE2):c.58G>A (p.Gly20Ser)	MAGEE2 (G20S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3366901	NC_000023.10:g.(?_54610638)_(154689386_?)dup	ABCB7, ABCD1 +526 more	Duplication	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 3062482	GRCh37/hg19 Xq11.1-21.1(chrX:61877278-79122848)	ABCB7, AMER1 +92 more	Copy number gain	not specified	GPathogenic

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