ClinVar for MedGen (Select 98374) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25792271.	GRCh38/hg38 Xq28(chrX:150592508-150619237)x0 GRCh38: ChrX:150592508-150619237	MTM1		Severe X-linked myotubular myopathy	Pathogenic (Aug 24, 2023)	criteria provided, single submitter
Select item 25726152.	NM_000252.3(MTM1):c.1372T>G (p.Phe458Val) GRCh37: ChrX:149828862 GRCh38: ChrX:150660389	MTM1	F421V, F458V	Severe X-linked myotubular myopathy	Likely pathogenic (Jul 3, 2023)	criteria provided, single submitter
Select item 25065353.	GRCh37/hg19 Xq28(chrX:149761077-149818374) GRCh37: ChrX:149761077-149818374	MTM1		Severe X-linked myotubular myopathy	Pathogenic (May 26, 2023)	criteria provided, single submitter
Select item 25008664.	NM_000252.3(MTM1):c.136+172T>C GRCh37: ChrX:149765206 GRCh38: ChrX:150596742	MTM1		Severe X-linked myotubular myopathy	Uncertain significance (May 2, 2023)	criteria provided, single submitter
Select item 25007815.	NM_000252.2(MTM1):c.-76_-11del GRCh37: ChrX:149737047-149737112 GRCh38: ChrX:150568597-150568662	MTM1		Severe X-linked myotubular myopathy	Pathogenic	criteria provided, single submitter
Select item 25001246.	Single allele GRCh37: ChrX:149818187-149818193 GRCh38: ChrX:150649714-150649720	MTM1		Severe X-linked myotubular myopathy	Likely pathogenic (Apr 28, 2023)	criteria provided, single submitter
Select item 24226737.	NC_000023.10:g.(?_149761093)_(149767213_?)del GRCh37: ChrX:149761093-149767213	MTM1		Severe X-linked myotubular myopathy	Likely pathogenic (Mar 9, 2022)	criteria provided, single submitter
Select item 24226718.	NC_000023.10:g.(?_149761077)_(149787632_?)dup GRCh37: ChrX:149761077-149787632	MTM1		Severe X-linked myotubular myopathy	Uncertain significance (Apr 28, 2021)	criteria provided, single submitter
Select item 24226709.	NC_000023.10:g.(?_149818176)_(149818384_?)del GRCh37: ChrX:149818176-149818384	MTM1		Severe X-linked myotubular myopathy	Likely pathogenic (Oct 18, 2022)	criteria provided, single submitter
Select item 242266910.	NC_000023.10:g.(?_149613783)_(149840068_?)dup GRCh37: ChrX:149613783-149840068	MTM1, MAMLD1		Severe X-linked myotubular myopathy	Uncertain significance (Jun 7, 2022)	criteria provided, single submitter
Select item 242266811.	NC_000023.10:g.(?_149613783)_(150573536_?)del GRCh37: ChrX:149613783-150573536	MAMLD1, VMA21, GPR50, HMGB3, MTM1, MTMR1, GPR50-AS1, CD99L2		Severe X-linked myotubular myopathy, X-linked myopathy with excessive autophagy	Conflicting interpretations of pathogenicity (Oct 4, 2022)	criteria provided, conflicting interpretations
Select item 242146812.	NM_000252.3(MTM1):c.342+9T>G GRCh37: ChrX:149783181 GRCh38: ChrX:150614708	MTM1		Severe X-linked myotubular myopathy	Likely benign (Oct 23, 2022)	criteria provided, single submitter
Select item 242136213.	NM_000252.3(MTM1):c.444+15T>C GRCh37: ChrX:149787627 GRCh38: ChrX:150619154	MTM1		Severe X-linked myotubular myopathy	Likely benign (Aug 30, 2022)	criteria provided, single submitter
Select item 241352414.	NM_000252.3(MTM1):c.1542T>C (p.Tyr514=) GRCh37: ChrX:149831980 GRCh38: ChrX:150663507	MTM1		Severe X-linked myotubular myopathy	Likely benign (Feb 25, 2022)	criteria provided, single submitter
Select item 217553515.	NM_000252.3(MTM1):c.136+5G>A GRCh37: ChrX:149765039 GRCh38: ChrX:150596575	MTM1		Severe X-linked myotubular myopathy	Uncertain significance (Jun 4, 2022)	criteria provided, single submitter
Select item 217532416.	NM_000252.3(MTM1):c.1475C>T (p.Thr492Ile) GRCh37: ChrX:149831913 GRCh38: ChrX:150663440	MTM1	T492I, T455I	Severe X-linked myotubular myopathy	Uncertain significance (Apr 6, 2022)	criteria provided, single submitter
Select item 217232017.	NM_000252.3(MTM1):c.335C>G (p.Thr112Ser) GRCh37: ChrX:149783165 GRCh38: ChrX:150614692	MTM1	T112S	Severe X-linked myotubular myopathy	Uncertain significance (Oct 25, 2022)	criteria provided, single submitter
Select item 217203718.	NM_000252.3(MTM1):c.1261-10A>C GRCh37: ChrX:149828127 GRCh38: ChrX:150659654	MTM1		Severe X-linked myotubular myopathy	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 216209019.	NM_000252.3(MTM1):c.990T>C (p.Pro330=) GRCh37: ChrX:149818311 GRCh38: ChrX:150649838	MTM1		Severe X-linked myotubular myopathy	Likely benign (Apr 14, 2022)	criteria provided, single submitter
Select item 216162620.	NM_000252.3(MTM1):c.363C>T (p.Phe121=) GRCh37: ChrX:149787531 GRCh38: ChrX:150619058	MTM1		Severe X-linked myotubular myopathy	Benign (Jun 8, 2022)	criteria provided, single submitter
Select item 216147521.	NM_000252.3(MTM1):c.32C>T (p.Ser11Leu) GRCh37: ChrX:149761108 GRCh38: ChrX:150592646	MTM1	S11L	Severe X-linked myotubular myopathy	Uncertain significance (Jun 20, 2022)	criteria provided, single submitter
Select item 215387722.	NM_000252.3(MTM1):c.1645-14_1645-13del GRCh37: ChrX:149839884-149839885 GRCh38: ChrX:150671411-150671412	MTM1		Severe X-linked myotubular myopathy	Likely benign (May 11, 2022)	criteria provided, single submitter
Select item 215358923.	NM_000252.3(MTM1):c.336T>A (p.Thr112=) GRCh37: ChrX:149783166 GRCh38: ChrX:150614693	MTM1		Severe X-linked myotubular myopathy	Likely benign (Jul 18, 2022)	criteria provided, single submitter
Select item 215327824.	NM_000252.3(MTM1):c.1419C>T (p.Cys473=) GRCh37: ChrX:149828909 GRCh38: ChrX:150660436	MTM1		Severe X-linked myotubular myopathy	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 215008425.	NM_000252.3(MTM1):c.1405C>G (p.His469Asp) GRCh37: ChrX:149828895 GRCh38: ChrX:150660422	MTM1	H469D, H432D	Severe X-linked myotubular myopathy	Likely pathogenic (Sep 28, 2022)	criteria provided, single submitter
Select item 214610926.	NM_000252.3(MTM1):c.1778C>T (p.Ser593Leu) GRCh37: ChrX:149840034 GRCh38: ChrX:150671561	MTM1	S593L, S556L, S592L	Severe X-linked myotubular myopathy	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 214523727.	NM_000252.3(MTM1):c.1149T>C (p.Ala383=) GRCh37: ChrX:149826389 GRCh38: ChrX:150657916	MTM1		Severe X-linked myotubular myopathy	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 214194428.	NM_000252.3(MTM1):c.1260+10C>T GRCh37: ChrX:149826510 GRCh38: ChrX:150658037	MTM1		Severe X-linked myotubular myopathy	Likely benign (May 19, 2022)	criteria provided, single submitter
Select item 214132629.	NM_000252.3(MTM1):c.1759A>G (p.Thr587Ala) GRCh37: ChrX:149840015 GRCh38: ChrX:150671542	MTM1	T586A, T550A, T587A	Severe X-linked myotubular myopathy	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 214051130.	NM_000252.3(MTM1):c.800C>T (p.Thr267Ile) GRCh37: ChrX:149814277 GRCh38: ChrX:150645804	MTM1	T230I, T267I	Severe X-linked myotubular myopathy	Uncertain significance (Sep 17, 2021)	criteria provided, single submitter
Select item 213875631.	NM_000252.3(MTM1):c.1509_1510del (p.Asn503fs) GRCh37: ChrX:149831946-149831947 GRCh38: ChrX:150663473-150663474	MTM1	N503fs, N466fs	Severe X-linked myotubular myopathy	Pathogenic (Aug 20, 2022)	criteria provided, single submitter
Select item 213875532.	NM_000252.3(MTM1):c.867+2T>A GRCh37: ChrX:149814346 GRCh38: ChrX:150645873	MTM1		Severe X-linked myotubular myopathy	Pathogenic (Aug 5, 2022)	criteria provided, single submitter
Select item 213875333.	NM_000252.3(MTM1):c.528+1G>A GRCh37: ChrX:149807500 GRCh38: ChrX:150639027	MTM1		Severe X-linked myotubular myopathy	Pathogenic (Apr 6, 2022)	criteria provided, single submitter
Select item 213787934.	NM_000252.3(MTM1):c.641G>A (p.Arg214Gln) GRCh37: ChrX:149809854 GRCh38: ChrX:150641381	MTM1	R214Q, R177Q	Severe X-linked myotubular myopathy	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 213211535.	NM_000252.3(MTM1):c.1596A>G (p.Glu532=) GRCh37: ChrX:149832034 GRCh38: ChrX:150663561	MTM1		Severe X-linked myotubular myopathy	Likely benign (Apr 30, 2022)	criteria provided, single submitter
Select item 211214236.	NM_000252.3(MTM1):c.678+9T>C GRCh37: ChrX:149809900 GRCh38: ChrX:150641427	MTM1		Severe X-linked myotubular myopathy	Likely benign (Mar 14, 2022)	criteria provided, single submitter
Select item 210964337.	NM_000252.3(MTM1):c.1573G>T (p.Val525Phe) GRCh37: ChrX:149832011 GRCh38: ChrX:150663538	MTM1	V525F, V488F	Severe X-linked myotubular myopathy	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 210946538.	NM_000252.3(MTM1):c.1260+15C>G GRCh37: ChrX:149826515 GRCh38: ChrX:150658042	MTM1		Severe X-linked myotubular myopathy	Pathogenic (Aug 30, 2022)	criteria provided, single submitter
Select item 210881539.	NM_000252.3(MTM1):c.445-20T>C GRCh37: ChrX:149807396 GRCh38: ChrX:150638923	MTM1		Severe X-linked myotubular myopathy	Likely benign (Mar 11, 2022)	criteria provided, single submitter
Select item 210828340.	NM_000252.3(MTM1):c.1644+19T>G GRCh37: ChrX:149832101 GRCh38: ChrX:150663628	MTM1		Severe X-linked myotubular myopathy	Likely benign (Mar 10, 2022)	criteria provided, single submitter
Select item 210336241.	NM_000252.3(MTM1):c.214T>C (p.Leu72=) GRCh37: ChrX:149767133 GRCh38: ChrX:150598669	MTM1		Severe X-linked myotubular myopathy	Likely benign (Feb 25, 2022)	criteria provided, single submitter
Select item 209862742.	NM_000252.3(MTM1):c.295G>A (p.Ala99Thr) GRCh37: ChrX:149783125 GRCh38: ChrX:150614652	MTM1	A99T	Severe X-linked myotubular myopathy	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 209011243.	NM_000252.3(MTM1):c.1791C>G (p.Pro597=) GRCh37: ChrX:149840047 GRCh38: ChrX:150671574	MTM1		Severe X-linked myotubular myopathy	Likely benign (Jan 26, 2022)	criteria provided, single submitter
Select item 208793944.	NM_000252.3(MTM1):c.1269T>A (p.Gly423=) GRCh37: ChrX:149828145 GRCh38: ChrX:150659672	MTM1		Severe X-linked myotubular myopathy	Likely benign (Oct 31, 2022)	criteria provided, single submitter
Select item 208641945.	NM_000252.3(MTM1):c.223T>C (p.Leu75=) GRCh37: ChrX:149767142 GRCh38: ChrX:150598678	MTM1		Severe X-linked myotubular myopathy	Benign (Jul 3, 2022)	criteria provided, single submitter
Select item 208332046.	NM_000252.3(MTM1):c.1389G>T (p.Leu463Phe) GRCh37: ChrX:149828879 GRCh38: ChrX:150660406	MTM1	L426F, L463F	Severe X-linked myotubular myopathy	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 207273947.	NM_000252.3(MTM1):c.1153C>T (p.Leu385=) GRCh37: ChrX:149826393 GRCh38: ChrX:150657920	MTM1		Severe X-linked myotubular myopathy	Likely benign (Sep 20, 2022)	criteria provided, single submitter
Select item 207149648.	NM_000252.3(MTM1):c.678+5G>A GRCh37: ChrX:149809896 GRCh38: ChrX:150641423	MTM1		Severe X-linked myotubular myopathy	Uncertain significance (Jan 3, 2022)	criteria provided, single submitter
Select item 206632849.	NM_000252.3(MTM1):c.375G>A (p.Gln125=) GRCh37: ChrX:149787543 GRCh38: ChrX:150619070	MTM1		Severe X-linked myotubular myopathy	Likely benign (Sep 28, 2022)	criteria provided, single submitter
Select item 205925750.	NM_000252.3(MTM1):c.71G>A (p.Arg24Gln) GRCh37: ChrX:149764969 GRCh38: ChrX:150596505	MTM1	R24Q	Severe X-linked myotubular myopathy	Uncertain significance (Feb 13, 2022)	criteria provided, single submitter
Select item 205775951.	NM_000252.3(MTM1):c.678+18C>T GRCh37: ChrX:149809909 GRCh38: ChrX:150641436	MTM1		Severe X-linked myotubular myopathy	Likely benign (Apr 23, 2022)	criteria provided, single submitter
Select item 205753152.	NM_000252.3(MTM1):c.745A>G (p.Met249Val) GRCh37: ChrX:149814222 GRCh38: ChrX:150645749	MTM1	M212V, M249V	Severe X-linked myotubular myopathy	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 205601753.	NM_000252.3(MTM1):c.137-18del GRCh37: ChrX:149767038 GRCh38: ChrX:150598574	MTM1		Severe X-linked myotubular myopathy	Likely benign (Dec 23, 2021)	criteria provided, single submitter
Select item 204687254.	NM_000252.3(MTM1):c.21T>G (p.Ser7=) GRCh37: ChrX:149761097 GRCh38: ChrX:150592635	MTM1		Severe X-linked myotubular myopathy	Likely benign (Dec 18, 2021)	criteria provided, single submitter
Select item 204592455.	NM_000252.3(MTM1):c.495A>G (p.Thr165=) GRCh37: ChrX:149807466 GRCh38: ChrX:150638993	MTM1		Severe X-linked myotubular myopathy	Likely benign (Apr 21, 2022)	criteria provided, single submitter
Select item 204590056.	NM_000252.3(MTM1):c.387C>T (p.Ser129=) GRCh37: ChrX:149787555 GRCh38: ChrX:150619082	MTM1		Severe X-linked myotubular myopathy	Likely benign (Jun 9, 2022)	criteria provided, single submitter
Select item 204509957.	NM_000252.3(MTM1):c.456A>G (p.Ala152=) GRCh37: ChrX:149807427 GRCh38: ChrX:150638954	MTM1		Severe X-linked myotubular myopathy	Likely benign (Dec 17, 2021)	criteria provided, single submitter
Select item 204169358.	NM_000252.3(MTM1):c.1468-21TC[2] GRCh37: ChrX:149831885-149831888 GRCh38: ChrX:150663412-150663415	MTM1		Severe X-linked myotubular myopathy	Benign (Jan 13, 2022)	criteria provided, single submitter
Select item 203288059.	NM_000252.3(MTM1):c.1116del (p.Val373fs) GRCh37: ChrX:149826355 GRCh38: ChrX:150657882	MTM1	V336fs, V373fs	Severe X-linked myotubular myopathy	Pathogenic (Sep 27, 2022)	criteria provided, single submitter
Select item 201954460.	NM_000252.3(MTM1):c.1680C>G (p.Leu560=) GRCh37: ChrX:149839936 GRCh38: ChrX:150671463	MTM1		Severe X-linked myotubular myopathy	Likely benign (Jul 25, 2022)	criteria provided, single submitter
Select item 201906661.	NM_000252.3(MTM1):c.834T>C (p.Asp278=) GRCh37: ChrX:149814311 GRCh38: ChrX:150645838	MTM1		Severe X-linked myotubular myopathy	Likely benign (Jul 23, 2022)	criteria provided, single submitter
Select item 201728362.	NM_000252.3(MTM1):c.444+2T>A GRCh37: ChrX:149787614 GRCh38: ChrX:150619141	MTM1		Severe X-linked myotubular myopathy	Likely pathogenic (Jul 18, 2022)	criteria provided, single submitter
Select item 201258863.	NM_000252.3(MTM1):c.1733A>C (p.Asn578Thr) GRCh37: ChrX:149839989 GRCh38: ChrX:150671516	MTM1	N577T, N578T, N541T	Severe X-linked myotubular myopathy	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 201071464.	NM_000252.3(MTM1):c.629A>T (p.Asp210Val) GRCh37: ChrX:149809842 GRCh38: ChrX:150641369	MTM1	D173V, D210V	Severe X-linked myotubular myopathy	Uncertain significance (Jun 25, 2022)	criteria provided, single submitter
Select item 200558665.	NM_000252.3(MTM1):c.1811del (p.Phe603_Ter604insTer) GRCh37: ChrX:149840067 GRCh38: ChrX:150671594	MTM1		Severe X-linked myotubular myopathy	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 198094066.	NM_000252.3(MTM1):c.679-22_679-17del GRCh37: ChrX:149814131-149814136 GRCh38: ChrX:150645658-150645663	MTM1		Severe X-linked myotubular myopathy	Likely benign (Jan 13, 2022)	criteria provided, single submitter
Select item 197803167.	NM_000252.3(MTM1):c.232G>C (p.Asp78His) GRCh37: ChrX:149783062 GRCh38: ChrX:150614589	MTM1	D78H	Severe X-linked myotubular myopathy	Uncertain significance (Jan 5, 2022)	criteria provided, single submitter
Select item 196640268.	NM_000252.3(MTM1):c.2T>C (p.Met1Thr) GRCh37: ChrX:149761078 GRCh38: ChrX:150592616	MTM1	M1T	Severe X-linked myotubular myopathy	Pathogenic (Jun 30, 2022)	criteria provided, single submitter
Select item 195893269.	NM_000252.3(MTM1):c.1467+24dup GRCh37: ChrX:149828973-149828974 GRCh38: ChrX:150660500-150660501	MTM1		Severe X-linked myotubular myopathy	Benign (Oct 8, 2022)	criteria provided, single submitter
Select item 195646370.	NM_000252.3(MTM1):c.359G>A (p.Arg120Lys) GRCh37: ChrX:149787527 GRCh38: ChrX:150619054	MTM1	R120K, R83K	Severe X-linked myotubular myopathy	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 194198571.	NM_000252.3(MTM1):c.102T>C (p.Ala34=) GRCh37: ChrX:149765000 GRCh38: ChrX:150596536	MTM1		Severe X-linked myotubular myopathy	Likely benign (Oct 23, 2022)	criteria provided, single submitter
Select item 193953072.	NM_000252.3(MTM1):c.180G>A (p.Lys60=) GRCh37: ChrX:149767099 GRCh38: ChrX:150598635	MTM1		Severe X-linked myotubular myopathy	Likely benign (Jul 3, 2022)	criteria provided, single submitter
Select item 193808473.	NM_000252.3(MTM1):c.963A>T (p.Leu321Phe) GRCh37: ChrX:149818284 GRCh38: ChrX:150649811	MTM1	L284F, L321F	Severe X-linked myotubular myopathy	Uncertain significance (Jun 15, 2022)	criteria provided, single submitter
Select item 193254674.	NM_000252.3(MTM1):c.296C>T (p.Ala99Val) GRCh37: ChrX:149783126 GRCh38: ChrX:150614653	MTM1	A99V	Severe X-linked myotubular myopathy	Benign (Sep 23, 2022)	criteria provided, single submitter
Select item 192604375.	NM_000252.3(MTM1):c.1632G>A (p.Arg544=) GRCh37: ChrX:149832070 GRCh38: ChrX:150663597	MTM1		Severe X-linked myotubular myopathy	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 189775176.	NM_000252.3(MTM1):c.1627C>T (p.Pro543Ser) GRCh37: ChrX:149832065 GRCh38: ChrX:150663592	MTM1	P506S, P543S	Severe X-linked myotubular myopathy	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 189550777.	NM_000252.3(MTM1):c.900A>G (p.Ala300=) GRCh37: ChrX:149818221 GRCh38: ChrX:150649748	MTM1		Severe X-linked myotubular myopathy	Likely benign (Jun 15, 2022)	criteria provided, single submitter
Select item 180631278.	NM_000252.3(MTM1):c.1205G>T (p.Gly402Val) GRCh37: ChrX:149826445 GRCh38: ChrX:150657972	MTM1	G365V, G402V	Severe X-linked myotubular myopathy	Pathogenic (Oct 19, 2020)	criteria provided, single submitter
Select item 179802779.	NM_000252.3(MTM1):c.294C>T (p.Gly98=) GRCh37: ChrX:149783124 GRCh38: ChrX:150614651	MTM1		Severe X-linked myotubular myopathy, Inborn genetic diseases	Likely benign (Aug 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 172675980.	NM_000252.3(MTM1):c.1057_1058insACGA (p.Val353fs) GRCh37: ChrX:149826297-149826298 GRCh38: ChrX:150657824-150657825	MTM1	V316fs, V353fs	Severe X-linked myotubular myopathy	Likely pathogenic (Jan 2, 2022)	criteria provided, single submitter
Select item 172622881.	NM_000252.3(MTM1):c.935_936insACTGTCTC (p.His312fs) GRCh37: ChrX:149818256-149818257 GRCh38: ChrX:150649783-150649784	MTM1	H275fs, H312fs	Severe X-linked myotubular myopathy	Likely pathogenic (May 28, 2022)	criteria provided, single submitter
Select item 172590982.	NM_000252.3(MTM1):c.730_731del (p.Gln244fs) GRCh37: ChrX:149814207-149814208 GRCh38: ChrX:150645734-150645735	MTM1	Q207fs, Q244fs	Severe X-linked myotubular myopathy	Likely pathogenic (Dec 8, 2021)	criteria provided, single submitter
Select item 172583183.	NM_000252.3(MTM1):c.1022T>A (p.Leu341Ter) GRCh37: ChrX:149818343 GRCh38: ChrX:150649870	MTM1	L304, L341	Severe X-linked myotubular myopathy	Likely pathogenic (Dec 8, 2021)	criteria provided, single submitter
Select item 172562784.	NM_000252.3(MTM1):c.763A>T (p.Lys255Ter) GRCh37: ChrX:149814240 GRCh38: ChrX:150645767	MTM1	K218, K255	Severe X-linked myotubular myopathy	Likely pathogenic (Mar 30, 2022)	criteria provided, single submitter
Select item 172531385.	NM_000252.3(MTM1):c.302_303del (p.Ser101fs) GRCh37: ChrX:149783132-149783133 GRCh38: ChrX:150614659-150614660	MTM1	S101fs	Severe X-linked myotubular myopathy	Likely pathogenic (Dec 2, 2021)	criteria provided, single submitter
Select item 172495586.	NM_000252.3(MTM1):c.1319del (p.Gln440fs) GRCh37: ChrX:149828195 GRCh38: ChrX:150659722	MTM1	Q403fs, Q440fs	Severe X-linked myotubular myopathy	Likely pathogenic (Mar 3, 2022)	criteria provided, single submitter
Select item 172489087.	NM_000252.3(MTM1):c.550A>T (p.Arg184Ter) GRCh37: ChrX:149809763 GRCh38: ChrX:150641290	MTM1	R147, R184	Severe X-linked myotubular myopathy	Likely pathogenic (Mar 2, 2022)	criteria provided, single submitter
Select item 172462188.	NM_000252.3(MTM1):c.1195_1199delinsTGC (p.Ser399fs) GRCh37: ChrX:149826435-149826439 GRCh38: ChrX:150657962-150657966	MTM1	S362fs, S399fs	Severe X-linked myotubular myopathy	Likely pathogenic (Feb 22, 2022)	criteria provided, single submitter
Select item 172438189.	NM_000252.3(MTM1):c.925_926del (p.Leu309fs) GRCh37: ChrX:149818246-149818247 GRCh38: ChrX:150649773-150649774	MTM1	L272fs, L309fs	Severe X-linked myotubular myopathy	Likely pathogenic (Feb 12, 2022)	criteria provided, single submitter
Select item 172404190.	NM_000252.3(MTM1):c.1045_1046insCCCCT (p.His349fs) GRCh37: ChrX:149818366-149818367 GRCh38: ChrX:150649893-150649894	MTM1	H312fs, H349fs	Severe X-linked myotubular myopathy	Likely pathogenic (Jan 24, 2022)	criteria provided, single submitter
Select item 172401291.	NM_000252.3(MTM1):c.350_351del (p.Arg117fs) GRCh37: ChrX:149787516-149787517 GRCh38: ChrX:150619043-150619044	MTM1	R117fs, R80fs	Severe X-linked myotubular myopathy	Likely pathogenic (Jan 23, 2022)	criteria provided, single submitter
Select item 172400392.	NM_000252.3(MTM1):c.405_408delinsTT (p.Glu135fs) GRCh37: ChrX:149787573-149787576 GRCh38: ChrX:150619100-150619103	MTM1	E135fs, E98fs	Severe X-linked myotubular myopathy	Likely pathogenic (Jan 23, 2022)	criteria provided, single submitter
Select item 172399793.	NM_000252.3(MTM1):c.1153_1156delinsTGT (p.Leu385fs) GRCh37: ChrX:149826393-149826396 GRCh38: ChrX:150657920-150657923	MTM1	L348fs, L385fs	Severe X-linked myotubular myopathy	Likely pathogenic (Jan 23, 2022)	criteria provided, single submitter
Select item 172393294.	NM_000252.3(MTM1):c.1011G>A (p.Trp337Ter) GRCh37: ChrX:149818332 GRCh38: ChrX:150649859	MTM1	W300, W337	Severe X-linked myotubular myopathy	Likely pathogenic (Jan 11, 2022)	criteria provided, single submitter
Select item 172048595.	NM_000252.3(MTM1):c.1423T>C (p.Phe475Leu) GRCh37: ChrX:149828913 GRCh38: ChrX:150660440	MTM1	F438L, F475L	Severe X-linked myotubular myopathy	Uncertain significance (Sep 29, 2022)	criteria provided, single submitter
Select item 171767796.	NM_000252.3(MTM1):c.562A>C (p.Ile188Leu) GRCh37: ChrX:149809775 GRCh38: ChrX:150641302	MTM1	I151L, I188L	Severe X-linked myotubular myopathy	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 170986797.	NM_000252.3(MTM1):c.100del (p.Ala34fs) GRCh37: ChrX:149764997 GRCh38: ChrX:150596533	MTM1	A34fs	Severe X-linked myotubular myopathy	Likely pathogenic (Aug 4, 2021)	criteria provided, single submitter
Select item 170970998.	NM_000252.3(MTM1):c.770A>G (p.Asp257Gly) GRCh37: ChrX:149814247 GRCh38: ChrX:150645774	MTM1	D220G, D257G	Severe X-linked myotubular myopathy	Uncertain significance (Aug 4, 2022)	criteria provided, single submitter
Select item 170961099.	NM_000252.3(MTM1):c.679-2A>C GRCh37: ChrX:149814154 GRCh38: ChrX:150645681	MTM1		Severe X-linked myotubular myopathy	Likely pathogenic (Jun 28, 2022)	criteria provided, single submitter
Select item 1699179100.	NM_000252.3(MTM1):c.153C>A (p.Tyr51Ter) GRCh37: ChrX:149767072 GRCh38: ChrX:150598608	MTM1	Y51*	Severe X-linked myotubular myopathy	Pathogenic (Sep 2, 2022)	criteria provided, single submitter

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