Total 242 pathogenic variants reported for Severe X-linked myotubular myopathy 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001005361.3(DNM2):c.1856C>T (p.Ser619Leu) SNV
Germline		 Chr19:10823862 Pathogenic Severe X-linked myotubular myopathy
Centronuclear myopathy
Charcot-Marie-Tooth disease dominant intermediate B
Condition: not provided
Autosomal dominant centronuclear myopathy
Autosomal dominant centronuclear myopathy
Charcot-Marie-Tooth disease dominant intermediate B
Fetal akinesia-cerebral and retinal hemorrhage syndrome		 Reviewed By Expert Panel
 CA172110 rs_121909095

9 SubmittersRCV000007708RCV000145908RCV000544279RCV000656268RCV000754751RCV002504764
NM_001005361.3(DNM2):c.1856C>G (p.Ser619Trp) SNV
Germline		 Chr19:10823862 Pathogenic Severe X-linked myotubular myopathy
Charcot-Marie-Tooth disease dominant intermediate B
Condition: not provided		 Criteria Provided
Single Submitter
 CA254140 rs_121909095

3 SubmittersRCV000007709RCV003447079RCV003441708
NM_000252.3(MTM1):c.566A>G (p.Asn189Ser) SNV
Germline		 ChrX:150641306 Pathogenic/Likely pathogenic Severe X-linked myotubular myopathy
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA255661 rs_132630302

4 SubmittersRCV000011802RCV004700217
NM_000252.3(MTM1):c.1190A>G (p.Tyr397Cys) SNV
Germline		 ChrX:150657957 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 CA255663 rs_132630303

2 SubmittersRCV000011803
NM_000252.3(MTM1):c.205C>T (p.Arg69Cys) SNV
Germline		 ChrX:150598660 Pathogenic Severe X-linked myotubular myopathy
Centronuclear myopathy
Condition: not provided		 Reviewed By Expert Panel
 CA255665 rs_132630304

6 SubmittersRCV000011804RCV004732460RCV003441713
NM_000252.3(MTM1):c.679-1G>A SNV
Germline		 ChrX:150645682 Likely pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 CA255667 rs_672601324

2 SubmittersRCV000011805
NM_000252.3(MTM1):c.1261-10A>G SNV
Germline		 ChrX:150659654 Pathogenic/Likely pathogenic Severe X-linked myotubular myopathy
Condition: not provided
MTM1-related disorder
Centronuclear myopathy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA255669 rs_397518445

15 SubmittersRCV000011807RCV000255138RCV004739300RCV004585996
NM_000252.3(MTM1):c.721C>T (p.Arg241Cys) SNV
Germline		 ChrX:150645725 Pathogenic Severe X-linked myotubular myopathy
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA255670 rs_132630305

8 SubmittersRCV000011808RCV000725013
NM_000252.3(MTM1):c.670C>T (p.Arg224Ter) SNV
Germline		 ChrX:150641410 Pathogenic Severe X-linked myotubular myopathy
Centronuclear myopathy		 Reviewed By Expert Panel
 CA255672 rs_132630306

5 SubmittersRCV000011809RCV004732462
NM_000252.3(MTM1):c.469G>A (p.Glu157Lys) SNV
Germline		 ChrX:150638967 Likely pathogenic Severe X-linked myotubular myopathy
Condition: not provided		 Criteria Provided
Single Submitter
 CA255676 rs_132630307

2 SubmittersRCV000011811RCV004589504
NM_000252.3(MTM1):c.1040T>G (p.Leu347Ter) SNV
Germline		 ChrX:150649888 Pathogenic Condition: not provided
Severe X-linked myotubular myopathy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA220524 rs_398123264

2 SubmittersRCV000368501RCV002514377
NM_000252.3(MTM1):c.1054-5G>C SNV
Germline		 ChrX:150657816 Conflicting classifications of pathogenicity Condition: not provided
Severe X-linked myotubular myopathy		 Criteria Provided
Conflicting Classifications
 CA220527 rs_398123265

2 SubmittersRCV000078426RCV003764754
NM_000252.3(MTM1):c.688T>C (p.Trp230Arg) SNV
Germline		 ChrX:150645692 Pathogenic/Likely pathogenic Condition: not provided
Severe X-linked myotubular myopathy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA220541 rs_398123274

4 SubmittersRCV000078436RCV000146479
NM_000252.3(MTM1):c.70C>T (p.Arg24Ter) SNV
Germline		 ChrX:150596504 Pathogenic Severe X-linked myotubular myopathy
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA220544 rs_398123275

4 SubmittersRCV000264401RCV000790686
NM_000252.3(MTM1):c.2T>G (p.Met1Arg) SNV
Germline		 ChrX:150592616 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 CA271863 rs_587783817

1 SubmittersRCV000146442
NM_000252.3(MTM1):c.3G>A (p.Met1Ile) SNV
Germline		 ChrX:150592617 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 CA271875 rs_587783823

1 SubmittersRCV000146448
NM_000252.3(MTM1):c.63+1G>A SNV
Germline		 ChrX:150592678 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 CA271914 rs_587783843

1 SubmittersRCV000146468
NM_000252.3(MTM1):c.63+3A>T SNV
Germline		 ChrX:150592680 Likely pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 CA271915 rs_587783844

1 SubmittersRCV000146469
NM_000252.3(MTM1):c.64-1G>A SNV
Germline		 ChrX:150596497 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 CA271919 rs_587783846

1 SubmittersRCV000146472
NM_000252.3(MTM1):c.85C>T (p.Arg29Ter) SNV
Germline		 ChrX:150596519 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 CA271941 rs_587783857

1 SubmittersRCV000146484
NM_000252.3(MTM1):c.109C>T (p.Arg37Ter) SNV
Germline		 ChrX:150596543 Pathogenic Severe X-linked myotubular myopathy
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA271728 rs_587783753

3 SubmittersRCV000146374RCV000579109
NM_000252.3(MTM1):c.145G>A (p.Val49Ile) SNV
Germline		 ChrX:150598600 Conflicting classifications of pathogenicity Severe X-linked myotubular myopathy Criteria Provided
Conflicting Classifications
 CA271826 rs_587783796

2 SubmittersRCV000146418
NM_000252.3(MTM1):c.145G>T (p.Val49Phe) SNV
Germline		 ChrX:150598600 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 CA271829 rs_587783796

1 SubmittersRCV000146419
NM_000252.3(MTM1):c.205C>G (p.Arg69Gly) SNV
Germline		 ChrX:150598660 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 CA271850 rs_132630304

1 SubmittersRCV000146433
NM_000252.3(MTM1):c.208C>T (p.Leu70Phe) SNV
Germline		 ChrX:150598663 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 CA271853 rs_587783809

1 SubmittersRCV000146434
NM_000252.3(MTM1):c.231+1G>A SNV
Germline		 ChrX:150598687 Pathogenic Severe X-linked myotubular myopathy
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA271855 rs_587783810

2 SubmittersRCV000146435RCV000254869
NM_000252.3(MTM1):c.231+2T>G SNV
Germline		 ChrX:150598688 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 CA271856 rs_587783811

1 SubmittersRCV000146436
NM_000252.3(MTM1):c.232-3C>A SNV
Germline		 ChrX:150614586 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 CA271859 rs_587783814

1 SubmittersRCV000146439
NM_000252.3(MTM1):c.232-2A>C SNV
Germline		 ChrX:150614587 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 CA271858 rs_587783813

1 SubmittersRCV000146438
NM_000252.3(MTM1):c.232-1G>A SNV
Germline		 ChrX:150614588 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 CA271857 rs_587783812

1 SubmittersRCV000146437
NM_000252.3(MTM1):c.260T>C (p.Leu87Pro) SNV
Germline		 ChrX:150614617 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 CA271861 rs_587783816

1 SubmittersRCV000146441
NM_000252.3(MTM1):c.301A>G (p.Ser101Gly) SNV
Germline		 ChrX:150614658 Conflicting classifications of pathogenicity Severe X-linked myotubular myopathy Criteria Provided
Conflicting Classifications
 CA271866 rs_587783818

2 SubmittersRCV000146443
NM_000252.3(MTM1):c.340A>T (p.Lys114Ter) SNV
Germline		 ChrX:150614697 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 CA271869 rs_587783819

1 SubmittersRCV000146444
NM_000252.3(MTM1):c.342+4A>G SNV
Germline		 ChrX:150614703 Likely pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 CA271872 rs_587783820

1 SubmittersRCV000146445
NM_000252.3(MTM1):c.343-2A>G SNV
Germline		 ChrX:150619036 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 CA271873 rs_587783821

1 SubmittersRCV000146446
NM_000252.3(MTM1):c.420C>G (p.Tyr140Ter) SNV
Germline		 ChrX:150619115 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 CA271879 rs_587783825

1 SubmittersRCV000146450
NM_000252.3(MTM1):c.514G>T (p.Glu172Ter) SNV
Germline		 ChrX:150639012 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 CA271884 rs_587783828

1 SubmittersRCV000146453
NM_000252.3(MTM1):c.528+1G>T SNV
Germline		 ChrX:150639027 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 CA271890 rs_587783830

1 SubmittersRCV000146455
NM_000252.3(MTM1):c.529-2A>G SNV
Germline		 ChrX:150641267 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 CA271891 rs_587783831

1 SubmittersRCV000146456
NM_000252.3(MTM1):c.535C>T (p.Pro179Ser) SNV
Germline		 ChrX:150641275 Pathogenic Severe X-linked myotubular myopathy
Centronuclear myopathy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA271892 rs_587783832

2 SubmittersRCV000146457RCV004586570
NM_000252.3(MTM1):c.549G>A (p.Trp183Ter) SNV
Germline		 ChrX:150641289 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 CA271895 rs_587783834

1 SubmittersRCV000146459
NM_000252.3(MTM1):c.550A>G (p.Arg184Gly) SNV
Germline		 ChrX:150641290 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 CA271898 rs_587783835

1 SubmittersRCV000146460
NM_000252.3(MTM1):c.557C>T (p.Thr186Ile) SNV
Germline		 ChrX:150641297 Pathogenic/Likely pathogenic Severe X-linked myotubular myopathy
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA271900 rs_587783836

2 SubmittersRCV000146461RCV003226903
NM_000252.3(MTM1):c.575A>G (p.Tyr192Cys) SNV
Germline		 ChrX:150641315 Likely pathogenic Severe X-linked myotubular myopathy
Condition: not provided
Centronuclear myopathy		 Reviewed By Expert Panel
 CA271902 rs_587783838

5 SubmittersRCV000146463RCV003329244RCV004586571
NM_000252.3(MTM1):c.611T>G (p.Val204Gly) SNV
Germline		 ChrX:150641351 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 CA271906 rs_587783840

1 SubmittersRCV000146465
NM_000252.3(MTM1):c.614C>T (p.Pro205Leu) SNV
Germline		 ChrX:150641354 Pathogenic Severe X-linked myotubular myopathy
Condition: not provided
Centronuclear myopathy		 Reviewed By Expert Panel
 CA271909 rs_587783841

6 SubmittersRCV000146466RCV001564887RCV004732467
NM_000252.3(MTM1):c.629A>G (p.Asp210Gly) SNV
Germline		 ChrX:150641369 Conflicting classifications of pathogenicity Severe X-linked myotubular myopathy Criteria Provided
Conflicting Classifications
 CA271911 rs_587783842

2 SubmittersRCV000146467
NM_000252.3(MTM1):c.637C>T (p.Leu213Phe) SNV
Germline		 ChrX:150641377 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 CA271916 rs_587783845

1 SubmittersRCV000146470
NM_000252.3(MTM1):c.664C>T (p.Arg222Ter) SNV
Germline		 ChrX:150641404 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Multiple Submitters
No Conflicts
 CA271920 rs_587783847

4 SubmittersRCV000146473
NM_000252.3(MTM1):c.676C>A (p.Pro226Thr) SNV
Germline		 ChrX:150641416 Likely pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 CA271923 rs_587783848

2 SubmittersRCV000146474
NM_000252.3(MTM1):c.678+1G>A SNV
Germline		 ChrX:150641419 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 CA271925 rs_587783849

1 SubmittersRCV000146475
NM_000252.3(MTM1):c.679G>A (p.Val227Met) SNV
Germline		 ChrX:150645683 Pathogenic/Likely pathogenic Severe X-linked myotubular myopathy Criteria Provided
Multiple Submitters
No Conflicts
 CA271926 rs_587783850

3 SubmittersRCV000146476
NM_000252.3(MTM1):c.683T>C (p.Leu228Pro) SNV
Germline		 ChrX:150645687 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 CA271928 rs_587783851

1 SubmittersRCV000146477
NM_000252.3(MTM1):c.743G>T (p.Gly248Val) SNV
Germline		 ChrX:150645747 Likely pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 CA271930 rs_587783853

1 SubmittersRCV000146480
NM_000252.3(MTM1):c.757C>T (p.Arg253Ter) SNV
Germline		 ChrX:150645761 Pathogenic Severe X-linked myotubular myopathy
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA271933 rs_587783854

5 SubmittersRCV000146481RCV000578589
NM_000252.3(MTM1):c.779A>C (p.Tyr260Ser) SNV
Germline		 ChrX:150645783 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 CA271936 rs_587783855

1 SubmittersRCV000146482
NM_000252.3(MTM1):c.791T>G (p.Ile264Ser) SNV
Germline		 ChrX:150645795 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 CA271939 rs_587783856

1 SubmittersRCV000146483
NM_000252.3(MTM1):c.867+1G>A SNV
Germline		 ChrX:150645872 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Multiple Submitters
No Conflicts
 CA271944 rs_587783858

2 SubmittersRCV000146485
NM_000252.3(MTM1):c.958T>C (p.Ser320Pro) SNV
Germline		 ChrX:150649806 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 CA271950 rs_587783863

1 SubmittersRCV000146490
NM_000252.3(MTM1):c.1036T>C (p.Trp346Arg) SNV
Germline		 ChrX:150649884 Likely pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 CA271723 rs_587783750

1 SubmittersRCV000146371
NM_000252.3(MTM1):c.1053+1G>C SNV
Germline		 ChrX:150649902 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 CA271726 rs_587783751

1 SubmittersRCV000146372
NM_000252.3(MTM1):c.1120C>G (p.His374Asp) SNV
Germline		 ChrX:150657887 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 CA271731 rs_587783754

1 SubmittersRCV000146375
NM_000252.3(MTM1):c.1132G>A (p.Gly378Arg) SNV
Germline		 ChrX:150657899 Pathogenic/Likely pathogenic Severe X-linked myotubular myopathy
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA271733 rs_587783755

3 SubmittersRCV000146376RCV001266066
NM_000252.3(MTM1):c.1136G>A (p.Trp379Ter) SNV
Germline		 ChrX:150657903 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 CA271735 rs_587783756

1 SubmittersRCV000146377
NM_000252.3(MTM1):c.1137G>A (p.Trp379Ter) SNV
Germline		 ChrX:150657904 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 CA271738 rs_587783757

1 SubmittersRCV000146378
NM_000252.3(MTM1):c.1139A>T (p.Asp380Val) SNV
Germline		 ChrX:150657906 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 CA271739 rs_587783758

1 SubmittersRCV000146379
NM_000252.3(MTM1):c.1160C>A (p.Ser387Tyr) SNV
Germline		 ChrX:150657927 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 CA271742 rs_587783759

1 SubmittersRCV000146380
NM_000252.3(MTM1):c.1180G>C (p.Asp394His) SNV
Germline		 ChrX:150657947 Likely pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 CA271744 rs_587783760

1 SubmittersRCV000146381
NM_000252.3(MTM1):c.1191T>G (p.Tyr397Ter) SNV
Germline		 ChrX:150657958 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 CA271747 rs_587783761

1 SubmittersRCV000146382
NM_000252.3(MTM1):c.1205G>C (p.Gly402Ala) SNV
Germline		 ChrX:150657972 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 CA271750 rs_587783762

1 SubmittersRCV000146383
NM_000252.3(MTM1):c.1232G>A (p.Trp411Ter) SNV
Germline		 ChrX:150657999 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 CA271752 rs_587783763

1 SubmittersRCV000146384
NM_000252.3(MTM1):c.1233G>T (p.Trp411Cys) SNV
Germline		 ChrX:150658000 Likely pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 CA271755 rs_587783764

1 SubmittersRCV000146385
NM_000252.3(MTM1):c.1234A>G (p.Ile412Val) SNV
Germline		 ChrX:150658001 Conflicting classifications of pathogenicity Severe X-linked myotubular myopathy
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA271757 rs_587783765

2 SubmittersRCV000146386RCV003322752
NM_000252.3(MTM1):c.1244G>A (p.Gly415Glu) SNV
Germline		 ChrX:150658011 Pathogenic/Likely pathogenic Severe X-linked myotubular myopathy
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA271760 rs_587783766

3 SubmittersRCV000146387RCV001582610
NM_000252.3(MTM1):c.1260+1G>A SNV
Germline		 ChrX:150658028 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 CA271763 rs_587783768

1 SubmittersRCV000146389
NM_000252.3(MTM1):c.1260+5G>A SNV
Germline		 ChrX:150658032 Conflicting classifications of pathogenicity Severe X-linked myotubular myopathy Criteria Provided
Conflicting Classifications
 CA271764 rs_587783769

2 SubmittersRCV000146390
NM_000252.3(MTM1):c.1261-1G>C SNV
Germline		 ChrX:150659663 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 CA271765 rs_587783770

1 SubmittersRCV000146391
NM_000252.3(MTM1):c.1261C>T (p.Arg421Ter) SNV
Germline		 ChrX:150659664 Pathogenic Severe X-linked myotubular myopathy
Condition: not provided
Neurodevelopmental disorder
Centronuclear myopathy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA271766 rs_587783771

8 SubmittersRCV000146392RCV000724986RCV003389044RCV004017420
NM_000252.3(MTM1):c.1262G>A (p.Arg421Gln) SNV
Germline		 ChrX:150659665 Pathogenic Severe X-linked myotubular myopathy
Condition: not provided
Spastic paraplegia
Congenital myopathy with fiber type disproportion
Centronuclear myopathy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA271769 rs_587783772

8 SubmittersRCV000146393RCV000428593RCV001257576RCV004586568RCV004586569
NM_000252.3(MTM1):c.1307C>T (p.Pro436Leu) SNV
Germline		 ChrX:150659710 Likely pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 CA271772 rs_587783774

1 SubmittersRCV000146395
NM_000252.3(MTM1):c.1325T>A (p.Ile442Asn) SNV
Germline		 ChrX:150659728 Likely pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 CA271776 rs_587783776

1 SubmittersRCV000146397
NM_000252.3(MTM1):c.1328A>C (p.Asp443Ala) SNV
Germline		 ChrX:150659731 Likely pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 CA271779 rs_587783777

1 SubmittersRCV000146398
NM_000252.3(MTM1):c.1337G>A (p.Trp446Ter) SNV
Germline		 ChrX:150659740 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Multiple Submitters
No Conflicts
 CA271782 rs_587783778

2 SubmittersRCV000146399
NM_000252.3(MTM1):c.1353G>A (p.Gln451=) SNV
Germline		 ChrX:150659756 Conflicting classifications of pathogenicity Severe X-linked myotubular myopathy Criteria Provided
Conflicting Classifications
 CA271787 rs_587783781

2 SubmittersRCV000146402
NM_000252.3(MTM1):c.1353+1G>A SNV
Germline		 ChrX:150659757 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 CA271785 rs_587783779

1 SubmittersRCV000146400
NM_000252.3(MTM1):c.1353+2T>C SNV
Germline		 ChrX:150659758 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 CA271786 rs_587783780

1 SubmittersRCV000146401
NM_000252.3(MTM1):c.1354-1G>A SNV
Germline		 ChrX:150660370 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 CA271790 rs_587783782

1 SubmittersRCV000146403
NM_000252.3(MTM1):c.1367T>C (p.Phe456Ser) SNV
Germline		 ChrX:150660384 Conflicting classifications of pathogenicity Severe X-linked myotubular myopathy Criteria Provided
Conflicting Classifications
 CA271791 rs_587783783

2 SubmittersRCV000146404
NM_000252.3(MTM1):c.1376A>T (p.Asn459Ile) SNV
Germline		 ChrX:150660393 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 CA271795 rs_587783785

1 SubmittersRCV000146406
NM_000252.3(MTM1):c.1378G>T (p.Glu460Ter) SNV
Germline		 ChrX:150660395 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 CA271798 rs_587783786

1 SubmittersRCV000146407
NM_000252.3(MTM1):c.1388T>C (p.Leu463Ser) SNV
Germline		 ChrX:150660405 Likely pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 CA271801 rs_587783787

1 SubmittersRCV000146408
NM_000252.3(MTM1):c.1388T>G (p.Leu463Trp) SNV
Germline		 ChrX:150660405 Likely pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 CA271804 rs_587783787

1 SubmittersRCV000146409
NM_000252.3(MTM1):c.1406A>G (p.His469Arg) SNV
Germline		 ChrX:150660423 Conflicting classifications of pathogenicity Severe X-linked myotubular myopathy Criteria Provided
Conflicting Classifications
 CA271810 rs_587783789

2 SubmittersRCV000146411
NM_000252.3(MTM1):c.1420C>T (p.Arg474Ter) SNV
Germline		 ChrX:150660437 Pathogenic Severe X-linked myotubular myopathy
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA271814 rs_587783792

4 SubmittersRCV000146414RCV000523062
NM_000252.3(MTM1):c.1427G>T (p.Gly476Val) SNV
Germline		 ChrX:150660444 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 CA271817 rs_587783793

1 SubmittersRCV000146415
NM_000252.3(MTM1):c.1433T>C (p.Phe478Ser) SNV
Germline		 ChrX:150660450 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 CA271820 rs_587783794

1 SubmittersRCV000146416
NM_000252.3(MTM1):c.1456C>T (p.Arg486Ter) SNV
Germline		 ChrX:150660473 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Multiple Submitters
No Conflicts
 CA271823 rs_587783795

2 SubmittersRCV000146417
NM_000252.3(MTM1):c.1467+1G>A SNV
Germline		 ChrX:150660485 Pathogenic Severe X-linked myotubular myopathy
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA271832 rs_587783798

2 SubmittersRCV000146421RCV004696855
NM_000252.3(MTM1):c.1467+1G>T SNV
Germline		 ChrX:150660485 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Multiple Submitters
No Conflicts
 CA271833 rs_587783798

2 SubmittersRCV000146422
NM_000252.3(MTM1):c.1467+2T>A SNV
Germline		 ChrX:150660486 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 CA271834 rs_587783799

1 SubmittersRCV000146423
NM_000252.3(MTM1):c.1495T>C (p.Trp499Arg) SNV
Germline		 ChrX:150663460 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 CA271838 rs_587783801

1 SubmittersRCV000146425
NM_000252.3(MTM1):c.1558C>T (p.Arg520Ter) SNV
Germline		 ChrX:150663523 Pathogenic Severe X-linked myotubular myopathy
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA271843 rs_587783805

3 SubmittersRCV000146429RCV003488399
NM_000252.3(MTM1):c.1701C>T (p.Tyr567=) SNV
Germline		 ChrX:150671484 Conflicting classifications of pathogenicity Severe X-linked myotubular myopathy Criteria Provided
Conflicting Classifications
 CA271846 rs_587783806

3 SubmittersRCV000146430
NM_000252.3(MTM1):c.422C>T (p.Ala141Val) SNV
Germline		 ChrX:150619117 Conflicting classifications of pathogenicity not specified
Severe X-linked myotubular myopathy
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA208132 rs_140642341

5 SubmittersRCV000194154RCV000552763RCV002517954RCV003430746
NM_000252.3(MTM1):c.226G>T (p.Glu76Ter) SNV
Germline		 ChrX:150598681 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 CA10654772 rs_1057516031

1 SubmittersRCV000408634
NM_000252.3(MTM1):c.742G>A (p.Gly248Ser) SNV
Germline		 ChrX:150645746 Conflicting classifications of pathogenicity Condition: not provided
Severe X-linked myotubular myopathy		 Criteria Provided
Conflicting Classifications
 CA10539155 rs_368335697

2 SubmittersRCV000482318RCV001404629
NM_000252.3(MTM1):c.342+1G>A SNV
Germline		 ChrX:150614700 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 CA415250436 rs_1557413092

1 SubmittersRCV000500214
NM_000252.3(MTM1):c.1505T>A (p.Ile502Lys) SNV
Germline		 ChrX:150663470 Pathogenic/Likely pathogenic not specified
Severe X-linked myotubular myopathy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA415260061 rs_1557414802

2 SubmittersRCV000502602RCV000809205
NM_000252.3(MTM1):c.1052A>G (p.Lys351Arg) SNV
Germline		 ChrX:150649900 Conflicting classifications of pathogenicity Condition: not provided
Severe X-linked myotubular myopathy
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA10539196 rs_150430628

6 SubmittersRCV000594938RCV001079479RCV004024802
NM_000252.3(MTM1):c.1210G>A (p.Glu404Lys) SNV
Germline		 ChrX:150657977 Pathogenic/Likely pathogenic Severe X-linked myotubular myopathy
Qualitative or quantitative defects of myotubularin		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10539219 rs_781933660

4 SubmittersRCV000636898RCV002529856
NM_000252.3(MTM1):c.700G>C (p.Glu234Gln) SNV
Germline		 ChrX:150645704 Conflicting classifications of pathogenicity Condition: not provided
Severe X-linked myotubular myopathy		 Criteria Provided
Conflicting Classifications
 rs_372053838

2 SubmittersRCV000659181RCV001419343
NM_000252.3(MTM1):c.1204G>A (p.Gly402Arg) SNV
Germline		 ChrX:150657971 Likely pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 rs_1569565525

1 SubmittersRCV000700810
NM_000252.3(MTM1):c.593A>C (p.Tyr198Ser) SNV
Germline		 ChrX:150641333 Pathogenic Severe X-linked myotubular myopathy No Assertion Criteria Provided
 rs_1569565497

1 SubmittersRCV000781957
NM_000252.3(MTM1):c.1053+1G>A SNV
Germline		 ChrX:150649902 Pathogenic Severe X-linked myotubular myopathy No Assertion Criteria Provided
 rs_587783751

1 SubmittersRCV000781956
NM_000252.3(MTM1):c.1381C>T (p.Gln461Ter) SNV
Germline		 ChrX:150660398 Pathogenic Severe X-linked myotubular myopathy
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_782234944

3 SubmittersRCV000781954RCV001543470
NM_000252.3(MTM1):c.64-2A>G SNV
Germline		 ChrX:150596496 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 rs_1603123976

1 SubmittersRCV000804174
NM_000252.3(MTM1):c.1793A>G (p.His598Arg) SNV
Germline		 ChrX:150671576 Conflicting classifications of pathogenicity Severe X-linked myotubular myopathy
MTM1-related disorder
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_201373390

4 SubmittersRCV000875386RCV004541741RCV004027863
NM_000252.3(MTM1):c.176T>C (p.Ile59Thr) SNV
Germline		 ChrX:150598631 Conflicting classifications of pathogenicity Severe X-linked myotubular myopathy
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_782217375

3 SubmittersRCV000905685RCV003489962
NM_000252.3(MTM1):c.1376A>G (p.Asn459Ser) SNV
Germline		 ChrX:150660393 Conflicting classifications of pathogenicity Severe X-linked myotubular myopathy
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_587783785

4 SubmittersRCV000920576RCV001595056RCV002540970
NM_000252.3(MTM1):c.230C>T (p.Thr77Met) SNV
Germline		 ChrX:150598685 Conflicting classifications of pathogenicity Severe X-linked myotubular myopathy
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_782640338

3 SubmittersRCV000939442RCV003363023
NM_000252.3(MTM1):c.136+1G>T SNV
Unknown		 ChrX:150596571 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 rs_1603124201

1 SubmittersRCV000990966
NM_000252.3(MTM1):c.728G>A (p.Ser243Asn) SNV
Germline		 ChrX:150645732 Likely pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 rs_2039919583

1 SubmittersRCV001042735
NM_000252.3(MTM1):c.1212A>C (p.Glu404Asp) SNV
Germline		 ChrX:150657979 Likely pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 rs_2040152678

1 SubmittersRCV001044086
NM_000252.3(MTM1):c.592T>C (p.Tyr198His) SNV
Unknown		 ChrX:150641332 Likely pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 rs_2039845128

1 SubmittersRCV001196503
NM_000252.3(MTM1):c.1644+1G>A SNV
Germline		 ChrX:150663610 Pathogenic Severe X-linked myotubular myopathy Reviewed By Expert Panel
 rs_398123272

2 SubmittersRCV001196667
NM_000252.3(MTM1):c.730C>T (p.Gln244Ter) SNV
Germline		 ChrX:150645734 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 rs_2039919698

1 SubmittersRCV001244848
NM_000252.3(MTM1):c.788T>G (p.Val263Gly) SNV
Germline		 ChrX:150645792 Conflicting classifications of pathogenicity Severe X-linked myotubular myopathy
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_782573475

2 SubmittersRCV001247857RCV004649543
NM_000252.3(MTM1):c.1354-2A>T SNV
Germline		 ChrX:150660369 Likely pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 rs_781835307

1 SubmittersRCV001239440
NM_000252.3(MTM1):c.97G>T (p.Glu33Ter) SNV
Unknown		 ChrX:150596531 Likely pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 rs_2038978870

1 SubmittersRCV001264141
NM_000252.3(MTM1):c.388A>T (p.Arg130Ter) SNV
Unknown		 ChrX:150619083 Likely pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 rs_2039434309

1 SubmittersRCV001264142
NM_000252.3(MTM1):c.487G>T (p.Gly163Ter) SNV
Unknown		 ChrX:150638985 Likely pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 rs_2039802744

1 SubmittersRCV001264143
NM_000252.3(MTM1):c.805A>T (p.Lys269Ter) SNV
Unknown		 ChrX:150645809 Likely pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 rs_2039921355

1 SubmittersRCV001264263
NM_000252.3(MTM1):c.838A>T (p.Arg280Ter) SNV
Unknown		 ChrX:150645842 Likely pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 rs_2039922261

1 SubmittersRCV001264264
NM_000252.3(MTM1):c.1037G>A (p.Trp346Ter) SNV
Unknown		 ChrX:150649885 Likely pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 rs_781939560

1 SubmittersRCV001264265
NM_000252.3(MTM1):c.1132G>T (p.Gly378Ter) SNV
Unknown		 ChrX:150657899 Likely pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 rs_587783755

1 SubmittersRCV001264266
NM_000252.3(MTM1):c.1201G>T (p.Glu401Ter) SNV
Unknown		 ChrX:150657968 Likely pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 rs_2040152185

1 SubmittersRCV001264267
NM_000252.3(MTM1):c.1133G>T (p.Gly378Val) SNV
Germline		 ChrX:150657900 Likely pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 rs_2040150416

1 SubmittersRCV001329126
NM_000252.3(MTM1):c.533T>C (p.Leu178Ser) SNV
Germline		 ChrX:150641273 Conflicting classifications of pathogenicity Severe X-linked myotubular myopathy
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_2148488364

3 SubmittersRCV001358686RCV002282529RCV003490219
NM_000252.3(MTM1):c.1261-2A>C SNV
Germline		 ChrX:150659662 Likely pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 rs_2148510791

1 SubmittersRCV001379511
NM_000252.3(MTM1):c.339T>A (p.Cys113Ter) SNV
Germline		 ChrX:150614696 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 rs_147644722

1 SubmittersRCV001384319
NM_000252.3(MTM1):c.1447G>T (p.Glu483Ter) SNV
Germline		 ChrX:150660464 Pathogenic Severe X-linked myotubular myopathy
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2148511944

2 SubmittersRCV001388878RCV003490240
NM_000252.3(MTM1):c.1459G>T (p.Glu487Ter) SNV
Germline		 ChrX:150660476 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 rs_2148511970

1 SubmittersRCV001388363
NM_000252.3(MTM1):c.1546A>T (p.Lys516Ter) SNV
Germline		 ChrX:150663511 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 rs_868972342

1 SubmittersRCV001384969
NM_000252.3(MTM1):c.38C>T (p.Ser13Phe) SNV
Germline		 ChrX:150592652 Conflicting classifications of pathogenicity Severe X-linked myotubular myopathy
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_144473998

3 SubmittersRCV001398779RCV003169981RCV003159207
NM_000252.3(MTM1):c.508G>C (p.Val170Leu) SNV
Germline		 ChrX:150639006 Conflicting classifications of pathogenicity Severe X-linked myotubular myopathy
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_782274835

3 SubmittersRCV001514668RCV003346590
NM_000252.3(MTM1):c.63+1G>T SNV
Germline		 ChrX:150592678 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 rs_587783843

1 SubmittersRCV001733828
NM_000252.3(MTM1):c.343-1G>A SNV
Germline		 ChrX:150619037 Likely pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 rs_2148461695

1 SubmittersRCV002038733
NM_000252.3(MTM1):c.310G>T (p.Glu104Ter) SNV
Germline		 ChrX:150614667 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 rs_2148456062

1 SubmittersRCV001872566
NM_000252.3(MTM1):c.590C>T (p.Thr197Ile) SNV
Germline		 ChrX:150641330 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 rs_2148488506

1 SubmittersRCV001975126
NM_000252.3(MTM1):c.548G>A (p.Trp183Ter) SNV
Germline		 ChrX:150641288 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 rs_2148488410

1 SubmittersRCV001914795
NM_000252.3(MTM1):c.326T>C (p.Leu109Pro) SNV
Germline		 ChrX:150614683 Likely pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 rs_2148456078

1 SubmittersRCV002262179
NM_000252.3(MTM1):c.153C>A (p.Tyr51Ter) SNV
Germline		 ChrX:150598608 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter
 rs_2148434034

1 SubmittersRCV002273036
NM_000252.3(MTM1):c.679-2A>C SNV
Germline		 ChrX:150645681 Likely pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter

1 SubmittersRCV002289425
NM_000252.3(MTM1):c.1011G>A (p.Trp337Ter) SNV
Unknown		 ChrX:150649859 Likely pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter

1 SubmittersRCV002306487
NM_000252.3(MTM1):c.550A>T (p.Arg184Ter) SNV
Unknown		 ChrX:150641290 Likely pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter

1 SubmittersRCV002307949
NM_000252.3(MTM1):c.763A>T (p.Lys255Ter) SNV
Unknown		 ChrX:150645767 Likely pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter

1 SubmittersRCV002309311
NM_000252.3(MTM1):c.1022T>A (p.Leu341Ter) SNV
Unknown		 ChrX:150649870 Likely pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter

1 SubmittersRCV002309515
NM_000252.3(MTM1):c.1205G>T (p.Gly402Val) SNV
Germline		 ChrX:150657972 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter

1 SubmittersRCV002470596
NM_000252.3(MTM1):c.528+1G>A SNV
Germline		 ChrX:150639027 Pathogenic Severe X-linked myotubular myopathy
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003050663RCV004700921
NM_000252.3(MTM1):c.867+2T>A SNV
Germline		 ChrX:150645873 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter

1 SubmittersRCV003050665
NM_000252.3(MTM1):c.1405C>G (p.His469Asp) SNV
Germline		 ChrX:150660422 Conflicting classifications of pathogenicity Severe X-linked myotubular myopathy
not specified		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003065806RCV003331427
NM_000252.3(MTM1):c.2T>C (p.Met1Thr) SNV
Germline		 ChrX:150592616 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter

1 SubmittersRCV002716544
NM_000252.3(MTM1):c.444+2T>A SNV
Germline		 ChrX:150619141 Likely pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter

1 SubmittersRCV002856710
NM_000252.3(MTM1):c.745A>G (p.Met249Val) SNV
Germline		 ChrX:150645749 Conflicting classifications of pathogenicity Severe X-linked myotubular myopathy
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002914882RCV004958853
NM_000252.3(MTM1):c.1260+15C>G SNV
Germline		 ChrX:150658042 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter

1 SubmittersRCV003020017
NM_000252.3(MTM1):c.1372T>G (p.Phe458Val) SNV
Germline		 ChrX:150660389 Likely pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter

1 SubmittersRCV003314500
NM_000252.3(MTM1):c.1778C>A (p.Ser593Ter) SNV
Unknown		 ChrX:150671561 Likely pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter

1 SubmittersRCV003461978
NM_000252.3(MTM1):c.1468-2A>G SNV
Unknown		 ChrX:150663431 Likely pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter

1 SubmittersRCV003461979
NM_000252.3(MTM1):c.27T>G (p.Tyr9Ter) SNV
Germline		 ChrX:150592641 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter

1 SubmittersRCV003507053
NM_000252.3(MTM1):c.232-1G>C SNV
Germline		 ChrX:150614588 Pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter

1 SubmittersRCV004566462
NM_000252.3(MTM1):c.1696G>T (p.Glu566Ter) SNV
Unknown		 ChrX:150671479 Likely pathogenic Severe X-linked myotubular myopathy Criteria Provided
Single Submitter

1 SubmittersRCV004576277