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	11 SubmittersRCV000007708 RCV000145908 RCV000544279 RCV000656268 RCV000754751 RCV002504764
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 SubmittersRCV000007709 RCV003447079 RCV003441708
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 SubmittersRCV000011802 RCV004700217
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 Condition: not provided Centronuclear myopathy	Reviewed By Expert Panel	CA255665	rs_132630304	6 SubmittersRCV000011804 RCV003441713 RCV004732460
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 Centronuclear myopathy MTM1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA255669	rs_397518445	16 SubmittersRCV000011807 RCV000255138 RCV004585996 RCV004739300
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	9 SubmittersRCV000011808 RCV000725013
NM_000252.3(MTM1):c.670C>T (p.Arg224Ter)	SNV Germline	ChrX:150641410	Pathogenic	Severe X-linked myotubular myopathy Centronuclear myopathy Condition: not provided	Reviewed By Expert Panel	CA255672	rs_132630306	7 SubmittersRCV000011809 RCV004732462 RCV005434601
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	3 SubmittersRCV000011811 RCV004589504
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 SubmittersRCV000368501 RCV002514377
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 SubmittersRCV000078426 RCV003764754
NM_000252.3(MTM1):c.688T>C (p.Trp230Arg)	SNV Germline	ChrX:150645692	Likely pathogenic	Condition: not provided Severe X-linked myotubular myopathy Centronuclear myopathy	Reviewed By Expert Panel	CA220541	rs_398123274	5 SubmittersRCV000078436 RCV000146479 RCV005430484
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 SubmittersRCV000264401 RCV000790686
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 Nonpapillary renal cell carcinoma	Criteria Provided Single Submitter	CA271914	rs_587783843	2 SubmittersRCV000146468 RCV005888161
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	4 SubmittersRCV000146374 RCV000579109
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/Likely pathogenic	Severe X-linked myotubular myopathy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA271855	rs_587783810	3 SubmittersRCV000146435 RCV000254869
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 Multiple Submitters No Conflicts	CA271872	rs_587783820	2 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 SubmittersRCV000146457 RCV004586570
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 SubmittersRCV000146461 RCV003226903
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 SubmittersRCV000146463 RCV003329244 RCV004586571
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 SubmittersRCV000146466 RCV001564887 RCV004732467
NM_000252.3(MTM1):c.629A>G (p.Asp210Gly)	SNV Germline	ChrX:150641369	Conflicting classifications of pathogenicity	Severe X-linked myotubular myopathy Nonpapillary renal cell carcinoma	Criteria Provided Conflicting Classifications	CA271911	rs_587783842	3 SubmittersRCV000146467 RCV005888160
NM_000252.3(MTM1):c.637C>T (p.Leu213Phe)	SNV Germline	ChrX:150641377	Conflicting classifications of pathogenicity	Severe X-linked myotubular myopathy Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA271916	rs_587783845	2 SubmittersRCV000146470 RCV005862997
NM_000252.3(MTM1):c.664C>T (p.Arg222Ter)	SNV Germline	ChrX:150641404	Pathogenic	Severe X-linked myotubular myopathy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA271920	rs_587783847	5 SubmittersRCV000146473 RCV006274990
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 SubmittersRCV000146481 RCV000578589
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 Thyroid cancer, nonmedullary, 1	Criteria Provided Multiple Submitters No Conflicts	CA271944	rs_587783858	3 SubmittersRCV000146485 RCV005888162
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	4 SubmittersRCV000146376 RCV001266066
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 Nonpapillary renal cell carcinoma	Criteria Provided Single Submitter	CA271739	rs_587783758	2 SubmittersRCV000146379 RCV005888158
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 SubmittersRCV000146386 RCV003322752
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 SubmittersRCV000146387 RCV001582610
NM_000252.3(MTM1):c.1260+1G>A	SNV Germline	ChrX:150658028	Pathogenic/Likely pathogenic	Severe X-linked myotubular myopathy	Criteria Provided Multiple Submitters No Conflicts	CA271763	rs_587783768	2 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 SubmittersRCV000146392 RCV000724986 RCV003389044 RCV004017420
NM_000252.3(MTM1):c.1262G>A (p.Arg421Gln)	SNV Germline	ChrX:150659665	Pathogenic/Likely pathogenic	Severe X-linked myotubular myopathy Condition: not provided Spastic paraplegia Centronuclear myopathy Congenital myopathy with fiber type disproportion Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA271769	rs_587783772	9 SubmittersRCV000146393 RCV000428593 RCV001257576 RCV004586569 RCV004586568 RCV005372237
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	Likely pathogenic	Severe X-linked myotubular myopathy Centronuclear myopathy	Reviewed By Expert Panel	CA271787	rs_587783781	3 SubmittersRCV000146402 RCV005252768
NM_000252.3(MTM1):c.1353+1G>A	SNV Germline	ChrX:150659757	Pathogenic	Severe X-linked myotubular myopathy Nonpapillary renal cell carcinoma	Criteria Provided Single Submitter	CA271785	rs_587783779	2 SubmittersRCV000146400 RCV005888159
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 SubmittersRCV000146414 RCV000523062
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 SubmittersRCV000146421 RCV004696855
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	Conflicting classifications of pathogenicity	Severe X-linked myotubular myopathy	Criteria Provided Conflicting Classifications	CA271838	rs_587783801	2 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	5 SubmittersRCV000146429 RCV003488399
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 SubmittersRCV000194154 RCV000552763 RCV002517954 RCV003430746
NM_000252.3(MTM1):c.49G>T (p.Glu17Ter)	SNV Germline	ChrX:150592663	Pathogenic	Condition: not provided Severe X-linked myotubular myopathy	Criteria Provided Multiple Submitters No Conflicts	CA10588745	rs_886039522	2 SubmittersRCV000254935 RCV005090298
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 SubmittersRCV000482318 RCV001404629
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 SubmittersRCV000502602 RCV000809205
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 Malignant tumor of esophagus Colorectal cancer Nonpapillary renal cell carcinoma	Criteria Provided Conflicting Classifications	CA10539196	rs_150430628	7 SubmittersRCV000594938 RCV001079479 RCV004024802 RCV005898707 RCV005898709 RCV005898708
NM_000252.3(MTM1):c.1210G>A (p.Glu404Lys)	SNV Germline	ChrX:150657977	Pathogenic	Severe X-linked myotubular myopathy Qualitative or quantitative defects of myotubularin Centronuclear myopathy Condition: not provided	Reviewed By Expert Panel	CA10539219	rs_781933660	6 SubmittersRCV000636898 RCV002529856 RCV005253015 RCV005241384
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 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10539150	rs_372053838	3 SubmittersRCV000659181 RCV001419343 RCV005372391
NM_000252.3(MTM1):c.1204G>A (p.Gly402Arg)	SNV Germline	ChrX:150657971	Likely pathogenic	Severe X-linked myotubular myopathy Thyroid cancer, nonmedullary, 1	Criteria Provided Single Submitter	CA415258747	rs_1569565525	2 SubmittersRCV000700810 RCV005901718
NM_000252.3(MTM1):c.593A>C (p.Tyr198Ser)	SNV Germline	ChrX:150641333	Pathogenic	Severe X-linked myotubular myopathy	No Assertion Criteria Provided	CA415256094	rs_1569565497	1 SubmittersRCV000781957
NM_000252.3(MTM1):c.1053+1G>A	SNV Germline	ChrX:150649902	Pathogenic	Severe X-linked myotubular myopathy Ovarian serous cystadenocarcinoma	No Assertion Criteria Provided	CA415257425	rs_587783751	2 SubmittersRCV000781956 RCV005897400
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	CA415259636	rs_782234944	3 SubmittersRCV000781954 RCV001543470
NM_000252.3(MTM1):c.64-2A>G	SNV Germline	ChrX:150596496	Pathogenic	Severe X-linked myotubular myopathy	Criteria Provided Single Submitter	CA415249632	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	CA10539328	rs_201373390	4 SubmittersRCV000875386 RCV004541741 RCV004027863
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	CA10539056	rs_782217375	3 SubmittersRCV000905685 RCV003489962
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	CA10539254	rs_587783785	4 SubmittersRCV000920576 RCV001595056 RCV002540970
NM_000252.3(MTM1):c.1729G>A (p.Ala577Thr)	SNV Germline	ChrX:150671512	Conflicting classifications of pathogenicity	Severe X-linked myotubular myopathy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10539320	rs_148195763	3 SubmittersRCV000920630 RCV005384893
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	CA10539059	rs_782640338	3 SubmittersRCV000939442 RCV003363023
NM_000252.3(MTM1):c.136+1G>T	SNV Unknown	ChrX:150596571	Pathogenic	Severe X-linked myotubular myopathy	Criteria Provided Single Submitter	CA415250618	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	CA415256391	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	CA415258782	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	CA415256091	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	CA415260520	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	CA415256398	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	CA10539164	rs_782573475	2 SubmittersRCV001247857 RCV004649543
NM_000252.3(MTM1):c.1354-2A>T	SNV Germline	ChrX:150660369	Likely pathogenic	Severe X-linked myotubular myopathy	Criteria Provided Single Submitter	CA10539252	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	CA415250125	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	CA415251314	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	CA415255694	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	CA415256563	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	CA415256637	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	CA10539195	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	CA415258404	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	CA415258734	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	CA415258405	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	CA415255932	rs_2148488364	3 SubmittersRCV001358686 RCV002282529 RCV003490219
NM_000252.3(MTM1):c.1261-2A>C	SNV Germline	ChrX:150659662	Likely pathogenic	Severe X-linked myotubular myopathy	Criteria Provided Single Submitter	CA415259084	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	CA415250378	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	CA415259787	rs_2148511944	2 SubmittersRCV001388878 RCV003490240
NM_000252.3(MTM1):c.1459G>T (p.Glu487Ter)	SNV Germline	ChrX:150660476	Pathogenic	Severe X-linked myotubular myopathy	Criteria Provided Single Submitter	CA415259810	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	CA415260223	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 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10539020	rs_144473998	3 SubmittersRCV001398779 RCV003159207 RCV003169981
NM_000252.3(MTM1):c.86G>A (p.Arg29Gln)	SNV Germline	ChrX:150596520	Conflicting classifications of pathogenicity	Severe X-linked myotubular myopathy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10539037	rs_782072494	2 SubmittersRCV001522731 RCV005672728
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	CA10539123	rs_782274835	3 SubmittersRCV001514668 RCV003346590
NM_000252.3(MTM1):c.1469A>G (p.Lys490Arg)	SNV Germline	ChrX:150663434	Conflicting classifications of pathogenicity	Condition: not provided Severe X-linked myotubular myopathy Inborn genetic diseases Thyroid cancer, nonmedullary, 1	Criteria Provided Conflicting Classifications	CA10539288	rs_781948606	7 SubmittersRCV001529349 RCV002568163 RCV003365426 RCV005911384
NM_000252.3(MTM1):c.63+1G>T	SNV Germline	ChrX:150592678	Pathogenic	Severe X-linked myotubular myopathy	Criteria Provided Single Submitter	CA415248527	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	CA415250872	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	CA415250089	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	CA415256089	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	CA415255986	rs_2148488410	1 SubmittersRCV001914795
NM_000252.3(MTM1):c.272C>T (p.Ser91Leu)	SNV Germline	ChrX:150614629	Conflicting classifications of pathogenicity	Severe X-linked myotubular myopathy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10539072	rs_782148152	2 SubmittersRCV002182529 RCV005439058
NM_000252.3(MTM1):c.326T>C (p.Leu109Pro)	SNV Germline	ChrX:150614683	Likely pathogenic	Severe X-linked myotubular myopathy	Criteria Provided Single Submitter	CA415250228	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	CA415251222	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	CA415256280	rs_2522380867	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	CA415257235	rs_2522399879	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	CA415255991	rs_587783835	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	CA415256467	rs_2522381476	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	CA415257271	rs_2522399938	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	CA415258758	rs_587783762	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	CA415255860	rs_587783830	3 SubmittersRCV003050663 RCV004700921
NM_000252.3(MTM1):c.867+2T>A	SNV Germline	ChrX:150645873	Pathogenic	Severe X-linked myotubular myopathy	Criteria Provided Single Submitter	CA415256707	rs_2522382258	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	CA415259693	rs_1327304427	2 SubmittersRCV003065806 RCV003331427
NM_002473.6(MYH9):c.871G>A (p.Asp291Asn)	SNV Germline	Chr22:36320361	Conflicting classifications of pathogenicity	Condition: not provided Severe X-linked myotubular myopathy	Criteria Provided Conflicting Classifications	CA10210434	rs_371205546	2 SubmittersRCV002614210 RCV005863708
NM_000252.3(MTM1):c.2T>C (p.Met1Thr)	SNV Germline	ChrX:150592616	Pathogenic	Severe X-linked myotubular myopathy	Criteria Provided Single Submitter	CA415248241	rs_587783817	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	CA415251788	rs_2522254215	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	CA10539157	rs_372351233	2 SubmittersRCV002914882 RCV004958853
NM_000252.3(MTM1):c.1260+15C>G	SNV Germline	ChrX:150658042	Pathogenic	Severe X-linked myotubular myopathy	Criteria Provided Single Submitter	CA2580101652	rs_2522436350	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	CA415259617	rs_2522446971	1 SubmittersRCV003314500
NM_000252.3(MTM1):c.1778C>A (p.Ser593Ter)	SNV Unknown	ChrX:150671561	Likely pathogenic	Severe X-linked myotubular myopathy Thyroid cancer, nonmedullary, 1	Criteria Provided Single Submitter	CA415023460	rs_950958823	2 SubmittersRCV003461978 RCV005927716
NM_000252.3(MTM1):c.1468-2A>G	SNV Germline	ChrX:150663431	Likely pathogenic	Severe X-linked myotubular myopathy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA415259878	rs_1557414792	2 SubmittersRCV003461979 RCV005639513
NM_000252.3(MTM1):c.27T>G (p.Tyr9Ter)	SNV Germline	ChrX:150592641	Pathogenic	Severe X-linked myotubular myopathy	Criteria Provided Single Submitter	CA415248354	rs_2522096827	1 SubmittersRCV003507053
NM_000252.3(MTM1):c.16A>G (p.Thr6Ala)	SNV Germline	ChrX:150592630	Conflicting classifications of pathogenicity	Severe X-linked myotubular myopathy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA415248300	rs_1557412510	2 SubmittersRCV003857809 RCV005669859
NM_000252.3(MTM1):c.232-1G>C	SNV Germline	ChrX:150614588	Pathogenic	Severe X-linked myotubular myopathy	Criteria Provided Single Submitter		rs_587783812	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		rs_1557415137	1 SubmittersRCV004576277
NM_000252.3(MTM1):c.492G>A (p.Trp164Ter)	SNV Germline	ChrX:150638990	Likely pathogenic	Severe X-linked myotubular myopathy	Criteria Provided Single Submitter			1 SubmittersRCV005041675
NM_000252.3(MTM1):c.403G>T (p.Glu135Ter)	SNV Germline	ChrX:150619098	Pathogenic	Severe X-linked myotubular myopathy	Criteria Provided Single Submitter			1 SubmittersRCV005126279
NM_000252.3(MTM1):c.231+1G>T	SNV Germline	ChrX:150598687	Pathogenic	Severe X-linked myotubular myopathy	Criteria Provided Single Submitter			1 SubmittersRCV005253376
NM_000252.3(MTM1):c.1138G>C (p.Asp380His)	SNV Germline	ChrX:150657905	Likely pathogenic	Severe X-linked myotubular myopathy	Criteria Provided Single Submitter			1 SubmittersRCV005402289
NM_000252.3(MTM1):c.231+2T>C	SNV Germline	ChrX:150598688	Likely pathogenic	Nonpapillary renal cell carcinoma Severe X-linked myotubular myopathy	Criteria Provided Single Submitter			2 SubmittersRCV006183587 RCV006475294
NM_000252.3(MTM1):c.1601G>C (p.Trp534Ser)	SNV Germline	ChrX:150663566	Likely pathogenic	Severe X-linked myotubular myopathy	Criteria Provided Single Submitter			1 SubmittersRCV006259754
NM_000252.3(MTM1):c.136+1G>C	SNV Germline	ChrX:150596571	Pathogenic	Condition: not provided Severe X-linked myotubular myopathy	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV006452388 RCV006480396
NM_000252.3(MTM1):c.529-2A>C	SNV Germline	ChrX:150641267	Likely pathogenic	Severe X-linked myotubular myopathy	Criteria Provided Single Submitter			1 SubmittersRCV006452988

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

11 SubmittersRCV000007708 RCV000145908 RCV000544279 RCV000656268 RCV000754751 RCV002504764

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 SubmittersRCV000007709 RCV003447079 RCV003441708

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 SubmittersRCV000011802 RCV004700217

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
Condition: not provided
Centronuclear myopathy

Reviewed By Expert Panel

CA255665

rs_132630304

6 SubmittersRCV000011804 RCV003441713 RCV004732460

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
Centronuclear myopathy
MTM1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA255669

rs_397518445

16 SubmittersRCV000011807 RCV000255138 RCV004585996 RCV004739300

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

9 SubmittersRCV000011808 RCV000725013

NM_000252.3(MTM1):c.670C>T (p.Arg224Ter)

SNV
Germline

ChrX:150641410

Pathogenic

Severe X-linked myotubular myopathy
Centronuclear myopathy
Condition: not provided

Reviewed By Expert Panel

CA255672

rs_132630306

7 SubmittersRCV000011809 RCV004732462 RCV005434601

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

3 SubmittersRCV000011811 RCV004589504

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 SubmittersRCV000368501 RCV002514377

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 SubmittersRCV000078426 RCV003764754

NM_000252.3(MTM1):c.688T>C (p.Trp230Arg)

SNV
Germline

ChrX:150645692

Likely pathogenic

Condition: not provided
Severe X-linked myotubular myopathy
Centronuclear myopathy

Reviewed By Expert Panel

CA220541

rs_398123274

5 SubmittersRCV000078436 RCV000146479 RCV005430484

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 SubmittersRCV000264401 RCV000790686

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
Nonpapillary renal cell carcinoma

Criteria Provided
Single Submitter

CA271914

rs_587783843

2 SubmittersRCV000146468 RCV005888161

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

4 SubmittersRCV000146374 RCV000579109

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/Likely pathogenic

Severe X-linked myotubular myopathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA271855

rs_587783810

3 SubmittersRCV000146435 RCV000254869

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
Multiple Submitters
No Conflicts

CA271872

rs_587783820

2 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 SubmittersRCV000146457 RCV004586570

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 SubmittersRCV000146461 RCV003226903

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 SubmittersRCV000146463 RCV003329244 RCV004586571

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 SubmittersRCV000146466 RCV001564887 RCV004732467

NM_000252.3(MTM1):c.629A>G (p.Asp210Gly)

SNV
Germline

ChrX:150641369

Conflicting classifications of pathogenicity

Severe X-linked myotubular myopathy
Nonpapillary renal cell carcinoma

Criteria Provided
Conflicting Classifications

CA271911

rs_587783842

3 SubmittersRCV000146467 RCV005888160

NM_000252.3(MTM1):c.637C>T (p.Leu213Phe)

SNV
Germline

ChrX:150641377

Conflicting classifications of pathogenicity

Severe X-linked myotubular myopathy
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA271916

rs_587783845

2 SubmittersRCV000146470 RCV005862997

NM_000252.3(MTM1):c.664C>T (p.Arg222Ter)

SNV
Germline

ChrX:150641404

Pathogenic

Severe X-linked myotubular myopathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA271920

rs_587783847

5 SubmittersRCV000146473 RCV006274990

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 SubmittersRCV000146481 RCV000578589

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
Thyroid cancer, nonmedullary, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA271944

rs_587783858

3 SubmittersRCV000146485 RCV005888162

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

4 SubmittersRCV000146376 RCV001266066

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
Nonpapillary renal cell carcinoma

Criteria Provided
Single Submitter

CA271739

rs_587783758

2 SubmittersRCV000146379 RCV005888158

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 SubmittersRCV000146386 RCV003322752

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 SubmittersRCV000146387 RCV001582610

NM_000252.3(MTM1):c.1260+1G>A

SNV
Germline

ChrX:150658028

Pathogenic/Likely pathogenic

Severe X-linked myotubular myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA271763

rs_587783768

2 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 SubmittersRCV000146392 RCV000724986 RCV003389044 RCV004017420

NM_000252.3(MTM1):c.1262G>A (p.Arg421Gln)

SNV
Germline

ChrX:150659665

Pathogenic/Likely pathogenic

Severe X-linked myotubular myopathy
Condition: not provided
Spastic paraplegia
Centronuclear myopathy
Congenital myopathy with fiber type disproportion
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA271769

rs_587783772

9 SubmittersRCV000146393 RCV000428593 RCV001257576 RCV004586569 RCV004586568 RCV005372237

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

Likely pathogenic

Severe X-linked myotubular myopathy
Centronuclear myopathy

Reviewed By Expert Panel

CA271787

rs_587783781

3 SubmittersRCV000146402 RCV005252768

NM_000252.3(MTM1):c.1353+1G>A

SNV
Germline

ChrX:150659757

Pathogenic

Severe X-linked myotubular myopathy
Nonpapillary renal cell carcinoma

Criteria Provided
Single Submitter

CA271785

rs_587783779

2 SubmittersRCV000146400 RCV005888159

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 SubmittersRCV000146414 RCV000523062

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 SubmittersRCV000146421 RCV004696855

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

Conflicting classifications of pathogenicity

Severe X-linked myotubular myopathy

Criteria Provided
Conflicting Classifications

CA271838

rs_587783801

2 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

5 SubmittersRCV000146429 RCV003488399

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 SubmittersRCV000194154 RCV000552763 RCV002517954 RCV003430746

NM_000252.3(MTM1):c.49G>T (p.Glu17Ter)

SNV
Germline

ChrX:150592663

Pathogenic

Condition: not provided
Severe X-linked myotubular myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA10588745

rs_886039522

2 SubmittersRCV000254935 RCV005090298

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 SubmittersRCV000482318 RCV001404629

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 SubmittersRCV000502602 RCV000809205

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
Malignant tumor of esophagus
Colorectal cancer
Nonpapillary renal cell carcinoma

Criteria Provided
Conflicting Classifications

CA10539196

rs_150430628

7 SubmittersRCV000594938 RCV001079479 RCV004024802 RCV005898707 RCV005898709 RCV005898708

NM_000252.3(MTM1):c.1210G>A (p.Glu404Lys)

SNV
Germline

ChrX:150657977

Pathogenic

Severe X-linked myotubular myopathy
Qualitative or quantitative defects of myotubularin
Centronuclear myopathy
Condition: not provided

Reviewed By Expert Panel

CA10539219

rs_781933660

6 SubmittersRCV000636898 RCV002529856 RCV005253015 RCV005241384

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10539150

rs_372053838

3 SubmittersRCV000659181 RCV001419343 RCV005372391

NM_000252.3(MTM1):c.1204G>A (p.Gly402Arg)

SNV
Germline

ChrX:150657971

Likely pathogenic

Severe X-linked myotubular myopathy
Thyroid cancer, nonmedullary, 1

Criteria Provided
Single Submitter

CA415258747

rs_1569565525

2 SubmittersRCV000700810 RCV005901718

NM_000252.3(MTM1):c.593A>C (p.Tyr198Ser)

SNV
Germline

ChrX:150641333

Pathogenic

Severe X-linked myotubular myopathy

No Assertion Criteria Provided

CA415256094

rs_1569565497

1 SubmittersRCV000781957

NM_000252.3(MTM1):c.1053+1G>A

SNV
Germline

ChrX:150649902

Pathogenic

Severe X-linked myotubular myopathy
Ovarian serous cystadenocarcinoma

No Assertion Criteria Provided

CA415257425

rs_587783751

2 SubmittersRCV000781956 RCV005897400

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

CA415259636

rs_782234944

3 SubmittersRCV000781954 RCV001543470

NM_000252.3(MTM1):c.64-2A>G

SNV
Germline

ChrX:150596496

Pathogenic

Severe X-linked myotubular myopathy

Criteria Provided
Single Submitter

CA415249632

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

CA10539328

rs_201373390

4 SubmittersRCV000875386 RCV004541741 RCV004027863

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

CA10539056

rs_782217375

3 SubmittersRCV000905685 RCV003489962

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

CA10539254

rs_587783785

4 SubmittersRCV000920576 RCV001595056 RCV002540970

NM_000252.3(MTM1):c.1729G>A (p.Ala577Thr)

SNV
Germline

ChrX:150671512

Conflicting classifications of pathogenicity

Severe X-linked myotubular myopathy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10539320

rs_148195763

3 SubmittersRCV000920630 RCV005384893

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

CA10539059

rs_782640338

3 SubmittersRCV000939442 RCV003363023

NM_000252.3(MTM1):c.136+1G>T

SNV
Unknown

ChrX:150596571

Pathogenic

Severe X-linked myotubular myopathy

Criteria Provided
Single Submitter

CA415250618

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

CA415256391

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

CA415258782

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

CA415256091

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

CA415260520

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

CA415256398

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

CA10539164

rs_782573475

2 SubmittersRCV001247857 RCV004649543

NM_000252.3(MTM1):c.1354-2A>T

SNV
Germline

ChrX:150660369

Likely pathogenic

Severe X-linked myotubular myopathy

Criteria Provided
Single Submitter

CA10539252

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

CA415250125

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

CA415251314

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

CA415255694

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

CA415256563

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

CA415256637

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

CA10539195

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

CA415258404

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

CA415258734

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

CA415258405

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

CA415255932

rs_2148488364

3 SubmittersRCV001358686 RCV002282529 RCV003490219

NM_000252.3(MTM1):c.1261-2A>C

SNV
Germline

ChrX:150659662

Likely pathogenic

Severe X-linked myotubular myopathy

Criteria Provided
Single Submitter

CA415259084

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

CA415250378

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

CA415259787

rs_2148511944

2 SubmittersRCV001388878 RCV003490240

NM_000252.3(MTM1):c.1459G>T (p.Glu487Ter)

SNV
Germline

ChrX:150660476

Pathogenic

Severe X-linked myotubular myopathy

Criteria Provided
Single Submitter

CA415259810

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

CA415260223

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
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10539020

rs_144473998

3 SubmittersRCV001398779 RCV003159207 RCV003169981

NM_000252.3(MTM1):c.86G>A (p.Arg29Gln)

SNV
Germline

ChrX:150596520

Conflicting classifications of pathogenicity

Severe X-linked myotubular myopathy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10539037

rs_782072494

2 SubmittersRCV001522731 RCV005672728

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

CA10539123

rs_782274835

3 SubmittersRCV001514668 RCV003346590

NM_000252.3(MTM1):c.1469A>G (p.Lys490Arg)

SNV
Germline

ChrX:150663434

Conflicting classifications of pathogenicity

Condition: not provided
Severe X-linked myotubular myopathy
Inborn genetic diseases
Thyroid cancer, nonmedullary, 1

Criteria Provided
Conflicting Classifications

CA10539288

rs_781948606

7 SubmittersRCV001529349 RCV002568163 RCV003365426 RCV005911384

NM_000252.3(MTM1):c.63+1G>T

SNV
Germline

ChrX:150592678

Pathogenic

Severe X-linked myotubular myopathy

Criteria Provided
Single Submitter

CA415248527

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

CA415250872

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

CA415250089

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

CA415256089

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

CA415255986

rs_2148488410

1 SubmittersRCV001914795

NM_000252.3(MTM1):c.272C>T (p.Ser91Leu)

SNV
Germline

ChrX:150614629

Conflicting classifications of pathogenicity

Severe X-linked myotubular myopathy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10539072

rs_782148152

2 SubmittersRCV002182529 RCV005439058

NM_000252.3(MTM1):c.326T>C (p.Leu109Pro)

SNV
Germline

ChrX:150614683

Likely pathogenic

Severe X-linked myotubular myopathy

Criteria Provided
Single Submitter

CA415250228

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

CA415251222

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

CA415256280

rs_2522380867

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

CA415257235

rs_2522399879

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

CA415255991

rs_587783835

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

CA415256467

rs_2522381476

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

CA415257271

rs_2522399938

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

CA415258758

rs_587783762

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

CA415255860

rs_587783830

3 SubmittersRCV003050663 RCV004700921

NM_000252.3(MTM1):c.867+2T>A

SNV
Germline

ChrX:150645873

Pathogenic

Severe X-linked myotubular myopathy

Criteria Provided
Single Submitter

CA415256707

rs_2522382258

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

CA415259693

rs_1327304427

2 SubmittersRCV003065806 RCV003331427

NM_002473.6(MYH9):c.871G>A (p.Asp291Asn)

SNV
Germline

Chr22:36320361

Conflicting classifications of pathogenicity

Condition: not provided
Severe X-linked myotubular myopathy

Criteria Provided
Conflicting Classifications

CA10210434

rs_371205546

2 SubmittersRCV002614210 RCV005863708

NM_000252.3(MTM1):c.2T>C (p.Met1Thr)

SNV
Germline

ChrX:150592616

Pathogenic

Severe X-linked myotubular myopathy

Criteria Provided
Single Submitter

CA415248241

rs_587783817

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

CA415251788

rs_2522254215

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

CA10539157

rs_372351233

2 SubmittersRCV002914882 RCV004958853

NM_000252.3(MTM1):c.1260+15C>G

SNV
Germline

ChrX:150658042

Pathogenic

Severe X-linked myotubular myopathy

Criteria Provided
Single Submitter

CA2580101652

rs_2522436350

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

CA415259617

rs_2522446971

1 SubmittersRCV003314500

NM_000252.3(MTM1):c.1778C>A (p.Ser593Ter)

SNV
Unknown

ChrX:150671561

Likely pathogenic

Severe X-linked myotubular myopathy
Thyroid cancer, nonmedullary, 1

Criteria Provided
Single Submitter

CA415023460

rs_950958823

2 SubmittersRCV003461978 RCV005927716

NM_000252.3(MTM1):c.1468-2A>G

SNV
Germline

ChrX:150663431

Likely pathogenic

Severe X-linked myotubular myopathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA415259878

rs_1557414792

2 SubmittersRCV003461979 RCV005639513

NM_000252.3(MTM1):c.27T>G (p.Tyr9Ter)

SNV
Germline

ChrX:150592641

Pathogenic

Severe X-linked myotubular myopathy

Criteria Provided
Single Submitter

CA415248354

rs_2522096827

1 SubmittersRCV003507053

NM_000252.3(MTM1):c.16A>G (p.Thr6Ala)

SNV
Germline

ChrX:150592630

Conflicting classifications of pathogenicity

Severe X-linked myotubular myopathy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA415248300

rs_1557412510

2 SubmittersRCV003857809 RCV005669859

NM_000252.3(MTM1):c.232-1G>C

SNV
Germline

ChrX:150614588

Pathogenic

Severe X-linked myotubular myopathy

Criteria Provided
Single Submitter

rs_587783812

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

rs_1557415137

1 SubmittersRCV004576277

NM_000252.3(MTM1):c.492G>A (p.Trp164Ter)

SNV
Germline

ChrX:150638990

Likely pathogenic

Severe X-linked myotubular myopathy

Criteria Provided
Single Submitter

1 SubmittersRCV005041675

NM_000252.3(MTM1):c.403G>T (p.Glu135Ter)

SNV
Germline

ChrX:150619098

Pathogenic

Severe X-linked myotubular myopathy

Criteria Provided
Single Submitter

1 SubmittersRCV005126279

NM_000252.3(MTM1):c.231+1G>T

SNV
Germline

ChrX:150598687

Pathogenic

Severe X-linked myotubular myopathy

Criteria Provided
Single Submitter

1 SubmittersRCV005253376

NM_000252.3(MTM1):c.1138G>C (p.Asp380His)

SNV
Germline

ChrX:150657905

Likely pathogenic

Severe X-linked myotubular myopathy

Criteria Provided
Single Submitter

1 SubmittersRCV005402289

NM_000252.3(MTM1):c.231+2T>C

SNV
Germline

ChrX:150598688

Likely pathogenic

Nonpapillary renal cell carcinoma
Severe X-linked myotubular myopathy

Criteria Provided
Single Submitter

2 SubmittersRCV006183587 RCV006475294

NM_000252.3(MTM1):c.1601G>C (p.Trp534Ser)

SNV
Germline

ChrX:150663566

Likely pathogenic

Severe X-linked myotubular myopathy

Criteria Provided
Single Submitter

1 SubmittersRCV006259754

NM_000252.3(MTM1):c.136+1G>C

SNV
Germline

ChrX:150596571

Pathogenic

Condition: not provided
Severe X-linked myotubular myopathy

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV006452388 RCV006480396

NM_000252.3(MTM1):c.529-2A>C

SNV
Germline

ChrX:150641267

Likely pathogenic

Severe X-linked myotubular myopathy

Criteria Provided
Single Submitter

1 SubmittersRCV006452988