MAGT1[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 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 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 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 155065	GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1	MCTS1, MECP2 +1229 more	Copy number loss	See cases	GPathogenic
Select item 148052	GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1	ABCD1, ACSL4 +1230 more	Copy number loss	See cases	GPathogenic
Select item 146131	GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1	LOC126863325, LOC126863326 +1225 more	Copy number loss	See cases	GPathogenic
Select item 144216	GRCh38/hg38 Xq21.1(chrX:77768771-77928775)x3	ATP7A, ATRX +7 more	Copy number gain	See cases	GUncertain significance
Select item 149224	GRCh38/hg38 Xq21.1(chrX:77784830-77925954)x3	ATP7A, ATRX +7 more	Copy number gain	See cases	GUncertain significance
Select item 149222	GRCh38/hg38 Xq21.1(chrX:77784830-77925954)x2	ATP7A, ATRX +7 more	Copy number gain	See cases	GUncertain significance
Select item 57068	GRCh38/hg38 Xq21.1(chrX:77784830-78691660)x2	ATP7A, ATRX +20 more	Copy number gain	See cases	GPathogenic
Select item 154292	GRCh38/hg38 Xq21.1(chrX:77787116-77890125)x3	MAGT1	Copy number gain	See cases	GUncertain significance
Select item 145143	GRCh38/hg38 Xq21.1(chrX:77798947-77887557)x3	MAGT1	Copy number gain	See cases	GUncertain significance
Select item 145142	GRCh38/hg38 Xq21.1(chrX:77798947-77887557)x2	MAGT1	Copy number gain	See cases	GPathogenic
Select item 155315	GRCh38/hg38 Xq21.1(chrX:77799457-77890125)x2	MAGT1	Copy number gain	See cases	GUncertain significance
Select item 153204	GRCh38/hg38 Xq21.1(chrX:77799457-77890125)x3	MAGT1	Copy number gain	See cases	Gconflicting data from submitters
Select item 155370	GRCh38/hg38 Xq21.1(chrX:77803550-77887501)x3	MAGT1	Copy number gain	See cases	GUncertain significance
Select item 153375	GRCh38/hg38 Xq21.1(chrX:77803550-77890125)x3	MAGT1	Copy number gain	See cases	GUncertain significance
Select item 144097	GRCh38/hg38 Xq21.1(chrX:77829855-77858051)x3	MAGT1	Copy number gain	See cases	GUncertain significance
Select item 60335	GRCh38/hg38 Xq21.1(chrX:77829855-77858051)x2	MAGT1	Copy number gain	See cases	GUncertain significance
Select item 60334	GRCh38/hg38 Xq21.1(chrX:77829855-78514258)x3	ATP7A, COX7B +15 more	Copy number gain	See cases	GUncertain significance
Select item 58660	GRCh38/hg38 Xq21.1(chrX:77829855-77902263)x2	COX7B, LOC130068460 +2 more	Copy number gain	See cases	GPathogenic
Select item 1216721	NM_001367916.1(MAGT1):c.992+45G>A	MAGT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1699712	NM_001367916.1(MAGT1):c.992+3A>G	MAGT1	Single nucleotide variant (intron variant)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia +1 more	GUncertain significance
Select item 471946	NM_001367916.1(MAGT1):c.992+1G>A	MAGT1	Single nucleotide variant (splice donor variant)	Inherited Immunodeficiency Diseases +2 more	GConflicting classifications of pathogenicity
Select item 2117584	NM_001367916.1(MAGT1):c.977A>G (p.His326Arg)	MAGT1 (H326R +1 more)	Single nucleotide variant (missense variant)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GUncertain significance
Select item 625836	NM_001367916.1(MAGT1):c.972A>C (p.Lys324Asn)	MAGT1 (K356N +1 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation	GPathogenic
Select item 956187	NM_001367916.1(MAGT1):c.958A>G (p.Ile320Val)	MAGT1 (I320V +1 more)	Single nucleotide variant (missense variant)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GUncertain significance
Select item 2004831	NM_001367916.1(MAGT1):c.951G>T (p.Met317Ile)	MAGT1 (M317I +1 more)	Single nucleotide variant (missense variant)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GUncertain significance
Select item 2876963	NM_001367916.1(MAGT1):c.949A>G (p.Met317Val)	MAGT1 (M317V +1 more)	Single nucleotide variant (missense variant)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GUncertain significance
Select item 976322	NM_001367916.1(MAGT1):c.948G>A (p.Trp316Ter)	MAGT1 (W316* +1 more)	Single nucleotide variant (nonsense)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GPathogenic
Select item 2792187	NM_001367916.1(MAGT1):c.945T>C (p.Ser315=)	MAGT1	Single nucleotide variant (synonymous variant)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GLikely benign
Select item 1480831	NM_001367916.1(MAGT1):c.927TGT[1] (p.Val311del)	MAGT1 (V343del +1 more)	Microsatellite (inframe_deletion)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GUncertain significance
Select item 96213	NM_001367916.1(MAGT1):c.932T>G (p.Val311Gly)	MAGT1 (V311G)	Single nucleotide variant (missense variant)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia +2 more	GBenign/Likely benign
Select item 1458559	NM_001367916.1(MAGT1):c.909T>A (p.Cys303Ter)	MAGT1 (C303* +1 more)	Single nucleotide variant (nonsense)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GPathogenic
Select item 3369319	NM_001367916.1(MAGT1):c.907T>C (p.Cys303Arg)	MAGT1 (C303R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2184645	NM_001367916.1(MAGT1):c.904A>G (p.Met302Val)	MAGT1 (M334V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1059017	NM_001367916.1(MAGT1):c.902-6C>G	MAGT1	Single nucleotide variant (intron variant)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GUncertain significance
Select item 1211779	NM_001367916.1(MAGT1):c.902-135TAAAA[14]	MAGT1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1203711	NM_001367916.1(MAGT1):c.902-135TAAAA[13]	MAGT1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1296390	NM_001367916.1(MAGT1):c.902-135TAAAA[11]	MAGT1	Microsatellite (intron variant)	not provided	GBenign
Select item 1294401	NM_001367916.1(MAGT1):c.902-135TAAAA[8]	MAGT1	Microsatellite (intron variant)	not provided	GBenign
Select item 1241523	NM_001367916.1(MAGT1):c.902-135TAAAA[10]	MAGT1	Microsatellite (intron variant)	not provided	GBenign
Select item 1228783	NM_001367916.1(MAGT1):c.902-135TAAAA[9]	MAGT1	Microsatellite (intron variant)	not provided	GBenign

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