MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: centronuclear myopathy (MONDO:0018947)
Parent Node: congenital structural myopathy (MONDO:0002921)
Parent Node: genetic peripheral neuropathy (MONDO:0020127)
Parent Node: qualitative or quantitative defects of myotubularin (MONDO:0016154)
..Starting node ..X-linked centronuclear myopathy ()
Child Nodes:
........X-linked myotubular myopathy-abnormal genitalia syndrome ()
Sister Nodes:
..X-linked centronuclear myopathy ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

10683

Name:

X-linked centronuclear myopathy

Definition:

X-linked myotubular myopathy (XLMTM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.

Alternative IDs:

310400

ParentIDs:

TreeNumbers:

Synonyms:

centronuclear myopathy, X-linked; CNMX; MTM; myopathy, centronuclear, X-linked; myopathy, centronuclear, X-linked; CNMX; myotubular myopathy 1; myotubular myopathy, X-linked; X-linked myotubular myopathy; XLCNM; XLMTM

Slim Mappings:

Reference:

MedGen:
MeSH:
OMIM: 310400;
MSeqDR :
Genes: MTM1;

Phenotypes

1	HP:0001419	X-linked recessive inheritance
2	HP:0001166	Arachnodactyly
3	HP:0001284	Areflexia
4	HP:0003517	Birth length greater than 97th percentile
5	HP:0000028	Cryptorchidism
6	HP:0001558	Decreased fetal movement
7	HP:0001410	Decreased liver function
8	HP:0009110	Diaphragmatic eventration
9	HP:0000544	External ophthalmoplegia
10	HP:0010628	Facial palsy
11	HP:0001371	Flexion contracture
12	HP:0003324	Generalized muscle weakness
13	HP:0000218	High palate
14	HP:0000238	Hydrocephalus
15	HP:0002375	Hypokinesia
16	HP:0000276	Long face
17	HP:0000256	Macrocephaly
18	HP:0000275	Narrow face
19	HP:0000467	Neck muscle weakness
20	HP:0002643	Neonatal respiratory distress
21	HP:0001561	Polyhydramnios
22	HP:0002021	Pyloric stenosis
23	HP:0004887	Respiratory failure requiring assisted ventilation
24	HP:0006829	Severe muscular hypotonia
25	HP:0011308	Slender toe

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NC_000023.10:g.(?_149613783)_(150573536_?)del	-1	CD99L2;GPR50;GPR50-AS1;HMGB3;MAMLD1;MTM1;MTMR1;VMA	Conflicting interpretations of pathogenicity	-1	RCV003122264\|RCV003122263;	N	MONDO:MONDO:0010684,MedGen:C1839615,OMIM:310440, Orphanet:25980\|MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149613783	150573536		-
NM_001005361.3(DNM2):c.1856C>T (p.Ser619Leu)	1785	DNM2	Pathogenic/Likely pathogenic	121909095	RCV000007708\|RCV000145908\|RCV000544279\|RCV000754751\|RCV000656268\|RCV002504764;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596\|MONDO:MONDO:0018947,MedGen:C0175709,OMIM:PS160150, Orphanet:595\|MONDO:MONDO:0011674,MedGen:C1847902,OMIM:606482, Orphanet:100044, Orphanet:228179\|MONDO:MONDO:0008048,MeSH:D020914,MedGen:C4551952,	19	10934538	10934538	19:g.10934538C>T	ClinGen:CA172110,UniProtKB:P50570#VAR_039042,OMIM:602378.0010	C1847902 606482 Charcot-Marie-Tooth disease, dominant intermediate B;
NM_001005361.3(DNM2):c.1856C>G (p.Ser619Trp)	1785	DNM2	Pathogenic	121909095	RCV000007709\|RCV003441708\|RCV003447079;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596\|MedGen:C3661900\|MONDO:MONDO:0011674,MedGen:C1847902,OMIM:606482, Orphanet:100044, Orphanet:228179	19	10934538	10934538	19:g.10934538C>G	ClinGen:CA254140,UniProtKB:P50570#VAR_039043,OMIM:602378.0011	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.557C>T (p.Thr186Ile)	4534	MTM1	Pathogenic/Likely pathogenic	587783836	RCV000146461\|RCV003226903;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596\|MedGen:CN517202	X	149809770	149809770	NC_000023.10:g.149809770C>T	ClinGen:CA271900,UniProtKB:Q13496#VAR_018234	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.679G>A (p.Val227Met)	4534	MTM1	Pathogenic/Likely pathogenic	587783850	RCV000146476;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149814156	149814156	NC_000023.10:g.149814156G>A	ClinGen:CA271926,UniProtKB:Q13496#VAR_018239	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.1132G>A (p.Gly378Arg)	4534	MTM1	Pathogenic/Likely pathogenic	587783755	RCV000146376\|RCV001266066;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596\|MeSH:D030342,MedGen:C0950123	X	149826372	149826372	X:g.149826372G>A	ClinGen:CA271733,UniProtKB:Q13496#VAR_006399	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.1244G>A (p.Gly415Glu)	4534	MTM1	Pathogenic/Likely pathogenic	587783766	RCV000146387\|RCV001582610;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596\|MedGen:CN517202	X	149826484	149826484	NC_000023.10:g.149826484G>A	ClinGen:CA271760	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.1261-10A>G	4534	MTM1	Pathogenic/Likely pathogenic	397518445	RCV000011807\|RCV000255138;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596\|MedGen:C3661900	X	149828127	149828127	X:g.149828127A>G	ClinGen:CA255669,OMIM:300415.0006	CN517202 not provided;
NM_000252.3(MTM1):c.1465_1468del (p.Gln489fs)	4534	MTM1	Pathogenic/Likely pathogenic	587783797	RCV000146420\|RCV001549673;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596\|MedGen:CN517202	X	149828952	149828955	NC_000023.10:g.149828954_149828957delACAG	ClinGen:CA271831	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.1505T>A (p.Ile502Lys)	4534	MTM1	Pathogenic/Likely pathogenic	1557414802	RCV000502602\|RCV000809205;	N	MedGen:CN169374\|MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149831943	149831943	NC_000023.10:g.149831943T>A	ClinGen:CA415260061	CN169374 not specified;
NM_000252.3(MTM1):c.1509del (p.Asn503fs)	4534	MTM1	Pathogenic/Likely pathogenic	587783802	RCV000146426\|RCV002247538;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596\|MedGen:CN517202	X	149831947	149831947	NC_000023.10:g.149831947delC	ClinGen:CA271840	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.2(MTM1):c.-76_-11del	4534	MTM1	Pathogenic	-1	RCV003225693;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149737047	149737112		-
NC_000023.10:g.(?_149761067)_(149840078_?)del	4534	MTM1	Pathogenic	-1	RCV000815920;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149761067	149840078		-
NC_000023.10:g.(?_149761067)_(149761149_?)del	4534	MTM1	Pathogenic	-1	RCV001972609;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149761067	149761149	-1	-
GRCh37/hg19 Xq28(chrX:149761077-149818374)	4534	MTM1	Pathogenic	-1	RCV003236719;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149761077	149818374		-
NM_000252.3(MTM1):c.2T>G (p.Met1Arg)	4534	MTM1	Pathogenic	587783817	RCV000146442;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149761078	149761078	NC_000023.10:g.149761078T>G	ClinGen:CA271863	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.2T>C (p.Met1Thr)	4534	MTM1	Pathogenic	-1	RCV002716544;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149761078	149761078	NC_000023.10:g.149761078T>C	-
NM_000252.3(MTM1):c.3G>A (p.Met1Ile)	4534	MTM1	Pathogenic	587783823	RCV000146448;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149761079	149761079	NC_000023.10:g.149761079G>A	ClinGen:CA271875	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.63+1G>A	4534	MTM1	Pathogenic	587783843	RCV000146468;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149761140	149761140	NC_000023.10:g.149761140G>A	ClinGen:CA271914	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.63+1G>T	4534	MTM1	Pathogenic	587783843	RCV001733828;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149761140	149761140	149761140	-
NM_000252.3(MTM1):c.64-2A>G	4534	MTM1	Pathogenic	1603123976	RCV000804174;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149764960	149764960	X:g.149764960A>G	-
NM_000252.3(MTM1):c.64-1G>A	4534	MTM1	Pathogenic	587783846	RCV000146472;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149764961	149764961	NC_000023.10:g.149764961G>A	ClinGen:CA271919	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.70C>T (p.Arg24Ter)	4534	MTM1	Pathogenic	398123275	RCV000264401\|RCV000790686;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596\|MedGen:CN517202	X	149764968	149764968	X:g.149764968C>T	ClinGen:CA220544	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.85C>T (p.Arg29Ter)	4534	MTM1	Pathogenic	587783857	RCV000146484;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149764983	149764983	NC_000023.10:g.149764983C>T	ClinGen:CA271941	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.96dup (p.Glu33Ter)	4534	MTM1	Pathogenic	797045724	RCV000194336;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149764993	149764994	NC_000023.10:g.149764994dupT	ClinGen:CA277300	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.109C>T (p.Arg37Ter)	4534	MTM1	Pathogenic	587783753	RCV000146374\|RCV000579109;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596\|MedGen:CN517202	X	149765007	149765007	NC_000023.10:g.149765007C>T	ClinGen:CA271728	CN517202 not provided;
NM_000252.3(MTM1):c.116del (p.Pro39fs)	4534	MTM1	Pathogenic	2038979352	RCV001210021;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149765013	149765013	X:g.149765013_149765013del	-
NM_000252.3(MTM1):c.130dup (p.Ile44fs)	4534	MTM1	Pathogenic	797045714	RCV000194745;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149765026	149765027	NC_000023.10:g.149765028dupA	ClinGen:CA277372	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.136+1G>T	4534	MTM1	Pathogenic	1603124201	RCV000990966;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149765035	149765035	X:g.149765035G>T	-
NM_000252.3(MTM1):c.141_144del	4534	MTM1	Pathogenic	587783791	RCV000011806\|RCV002253197\|RCV003335026;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596\|MedGen:CN517202\|	X	149767058	149767061	NC_000023.10:g.149767060_149767063del	ClinGen:CA255668,OMIM:300415.0005	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.139_141del (p.Lys47del)	4534	MTM1	Pathogenic	587783788	RCV000146410;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149767058	149767060	NC_000023.10:g.149767058_149767060delAAA	ClinGen:CA271807	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.145G>T (p.Val49Phe)	4534	MTM1	Pathogenic	587783796	RCV000146419;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149767064	149767064	NC_000023.10:g.149767064G>T	ClinGen:CA271829,UniProtKB:Q13496#VAR_018227	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.153_156del (p.Ile52fs)	4534	MTM1	Pathogenic	587783803	RCV000146427;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149767070	149767073	NC_000023.10:g.149767072_149767075delCATA	ClinGen:CA271841	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.153C>A (p.Tyr51Ter)	4534	MTM1	Pathogenic	2148434034	RCV002273036;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149767072	149767072	149767072	-
NM_000252.3(MTM1):c.154del (p.Ile52fs)	4534	MTM1	Pathogenic	587783804	RCV000146428;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149767073	149767073	NC_000023.10:g.149767073delA	ClinGen:CA271842	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.205C>T (p.Arg69Cys)	4534	MTM1	Pathogenic	132630304	RCV000011804\|RCV003441713;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596\|MedGen:C3661900	X	149767124	149767124	NC_000023.10:g.149767124C>T	ClinGen:CA255665,UniProtKB:Q13496#VAR_006387,OMIM:300415.0003	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.205C>G (p.Arg69Gly)	4534	MTM1	Pathogenic	132630304	RCV000146433;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149767124	149767124	NC_000023.10:g.149767124C>G	ClinGen:CA271850	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.208C>T (p.Leu70Phe)	4534	MTM1	Pathogenic	587783809	RCV000146434;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149767127	149767127	NC_000023.10:g.149767127C>T	ClinGen:CA271853,UniProtKB:Q13496#VAR_006388	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.226G>T (p.Glu76Ter)	4534	MTM1	Pathogenic	1057516031	RCV000408634;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149767145	149767145	X:g.149767145G>T	ClinGen:CA10654772	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.231+1G>A	4534	MTM1	Pathogenic	587783810	RCV000146435\|RCV000254869;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596\|MedGen:CN517202	X	149767151	149767151	NC_000023.10:g.149767151G>A	ClinGen:CA271855	CN517202 not provided;
NM_000252.3(MTM1):c.231+2T>G	4534	MTM1	Pathogenic	587783811	RCV000146436;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149767152	149767152	NC_000023.10:g.149767152T>G	ClinGen:CA271856	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.232-3C>A	4534	MTM1	Pathogenic	587783814	RCV000146439;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149783059	149783059	NC_000023.10:g.149783059C>A	ClinGen:CA271859	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.232-2A>C	4534	MTM1	Pathogenic	587783813	RCV000146438;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149783060	149783060	NC_000023.10:g.149783060A>C	ClinGen:CA271858	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.232-1G>A	4534	MTM1	Pathogenic	587783812	RCV000146437;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149783061	149783061	NC_000023.10:g.149783061G>A	ClinGen:CA271857	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.252del (p.Asp84fs)	4534	MTM1	Pathogenic	587783815	RCV000146440;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149783082	149783082	NC_000023.10:g.149783082delT	ClinGen:CA271860	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.260T>C (p.Leu87Pro)	4534	MTM1	Pathogenic	587783816	RCV000146441;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149783090	149783090	NC_000023.10:g.149783090T>C	ClinGen:CA271861,UniProtKB:Q13496#VAR_006389	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.310G>T (p.Glu104Ter)	4534	MTM1	Pathogenic	2148456062	RCV001872566;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149783140	149783140	149783140	-
NM_000252.3(MTM1):c.342_342+4del	4534	MTM1	Pathogenic	797045717	RCV000195024\|RCV000256076;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596\|MedGen:C3661900	X	149783168	149783172	NC_000023.10:g.149783172_149783176del	ClinGen:CA277422	CN517202 not provided;
NM_000252.3(MTM1):c.339T>A (p.Cys113Ter)	4534	MTM1	Pathogenic	147644722	RCV001384319;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149783169	149783169	149783169	-
NM_000252.3(MTM1):c.340A>T (p.Lys114Ter)	4534	MTM1	Pathogenic	587783819	RCV000146444;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149783170	149783170	NC_000023.10:g.149783170A>T	ClinGen:CA271869	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.342+1G>A	4534	MTM1	Pathogenic	1557413092	RCV000500214;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149783173	149783173	NC_000023.10:g.149783173G>A	ClinGen:CA415250436	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.343-2A>G	4534	MTM1	Pathogenic	587783821	RCV000146446;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149787509	149787509	NC_000023.10:g.149787509A>G	ClinGen:CA271873	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.397_398del (p.Met133fs)	4534	MTM1	Pathogenic	587783822	RCV000146447;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149787563	149787564	X:g.149787563_149787564del	ClinGen:CA271874	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.402del (p.Phe134fs)	4534	MTM1	Pathogenic	587783824	RCV000146449;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149787568	149787568	NC_000023.10:g.149787570delT	ClinGen:CA271878	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.419dup (p.Tyr140Ter)	4534	MTM1	Pathogenic	797045718	RCV000192943;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149787586	149787587	NC_000023.10:g.149787587dup	ClinGen:CA277055	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.420C>G (p.Tyr140Ter)	4534	MTM1	Pathogenic	587783825	RCV000146450;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149787588	149787588	NC_000023.10:g.149787588C>G	ClinGen:CA271879	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.431del (p.Leu144fs)	4534	MTM1	Pathogenic	587783826	RCV000146451;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149787599	149787599	NC_000023.10:g.149787599del	ClinGen:CA271882	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.465del (p.Asn155fs)	4534	MTM1	Pathogenic	1557413783	RCV000503395;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149807436	149807436	NC_000023.10:g.149807436delT	ClinGen:CA645372699	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.469G>A (p.Glu157Lys)	4534	MTM1	Pathogenic	132630307	RCV000011811;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149807440	149807440	X:g.149807440G>A	ClinGen:CA255676,UniProtKB:Q13496#VAR_018231,OMIM:300415.0010	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.469del (p.Glu157fs)	4534	MTM1	Pathogenic	587783827	RCV000146452;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149807440	149807440	NC_000023.10:g.149807440delG	ClinGen:CA271883	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.490_493del (p.Trp164fs)	4534	MTM1	Pathogenic	1603184989	RCV000990967;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149807453	149807456	X:g.149807453_149807456del	-
NM_000252.3(MTM1):c.514G>T (p.Glu172Ter)	4534	MTM1	Pathogenic	587783828	RCV000146453;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149807485	149807485	NC_000023.10:g.149807485G>T	ClinGen:CA271884	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.516del (p.Glu172fs)	4534	MTM1	Pathogenic	2039803495	RCV001221821;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149807486	149807486	X:g.149807486_149807486del	-
NM_000252.3(MTM1):c.528+1G>T	4534	MTM1	Pathogenic	587783830	RCV000146455;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149807500	149807500	NC_000023.10:g.149807500G>T	ClinGen:CA271890	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.528+1G>A	4534	MTM1	Pathogenic	-1	RCV003050663;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149807500	149807500	NC_000023.10:g.149807500G>A	-
NM_000252.3(MTM1):c.529-2A>G	4534	MTM1	Pathogenic	587783831	RCV000146456;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149809740	149809740	NC_000023.10:g.149809740A>G	ClinGen:CA271891	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.535C>T (p.Pro179Ser)	4534	MTM1	Pathogenic	587783832	RCV000146457;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149809748	149809748	NC_000023.10:g.149809748C>T	ClinGen:CA271892,UniProtKB:Q13496#VAR_009217	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.539_545del (p.Asn180fs)	4534	MTM1	Pathogenic	587783833	RCV000146458;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149809749	149809755	NC_000023.10:g.149809752_149809758delATCACCA	ClinGen:CA271894	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.549dup (p.Arg184fs)	4534	MTM1	Pathogenic	797045719	RCV000195004;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149809760	149809761	NC_000023.10:g.149809762dup	ClinGen:CA277415	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.548G>A (p.Trp183Ter)	4534	MTM1	Pathogenic	2148488410	RCV001914795;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149809761	149809761	149809761	-
NM_000252.3(MTM1):c.549G>A (p.Trp183Ter)	4534	MTM1	Pathogenic	587783834	RCV000146459;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149809762	149809762	NC_000023.10:g.149809762G>A	ClinGen:CA271895	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.550A>G (p.Arg184Gly)	4534	MTM1	Pathogenic	587783835	RCV000146460;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149809763	149809763	NC_000023.10:g.149809763A>G	ClinGen:CA271898,UniProtKB:Q13496#VAR_006390	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.566A>G (p.Asn189Ser)	4534	MTM1	Pathogenic	132630302	RCV000011802;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149809779	149809779	NC_000023.10:g.149809779A>G	ClinGen:CA255661,UniProtKB:Q13496#VAR_006391,OMIM:300415.0001	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.591_594del (p.Tyr198fs)	4534	MTM1	Pathogenic	587783839	RCV000146464;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149809802	149809805	NC_000023.10:g.149809804_149809807delTTAC	ClinGen:CA271905	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.590C>T (p.Thr197Ile)	4534	MTM1	Pathogenic	2148488506	RCV001975126;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149809803	149809803	149809803	-
NM_000252.3(MTM1):c.593A>C (p.Tyr198Ser)	4534	MTM1	Pathogenic	1569565497	RCV000781957;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149809806	149809806	NC_000023.10:g.149809806A>C	-
NM_000252.3(MTM1):c.605del (p.Leu202fs)	4534	MTM1	Pathogenic	672601325	RCV000011810;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149809815	149809815	X:g.149809815_149809815del	ClinGen:CA255675,OMIM:300415.0009	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.611T>G (p.Val204Gly)	4534	MTM1	Pathogenic	587783840	RCV000146465;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149809824	149809824	NC_000023.10:g.149809824T>G	ClinGen:CA271906	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.614C>T (p.Pro205Leu)	4534	MTM1	Pathogenic	587783841	RCV000146466\|RCV001564887;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596\|MedGen:CN517202	X	149809827	149809827	X:g.149809827C>T	ClinGen:CA271909,UniProtKB:Q13496#VAR_006393	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.624del (p.Ser209fs)	4534	MTM1	Pathogenic	2039846270	RCV001056079;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149809836	149809836	X:g.149809836_149809836del	-
NM_000252.3(MTM1):c.629A>G (p.Asp210Gly)	4534	MTM1	Pathogenic	587783842	RCV000146467;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149809842	149809842	NC_000023.10:g.149809842A>G	ClinGen:CA271911	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.637C>T (p.Leu213Phe)	4534	MTM1	Pathogenic	587783845	RCV000146470;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149809850	149809850	NC_000023.10:g.149809850C>T	ClinGen:CA271916	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.664C>T (p.Arg222Ter)	4534	MTM1	Pathogenic	587783847	RCV000146473;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149809877	149809877	NC_000023.10:g.149809877C>T	ClinGen:CA271920	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.670C>T (p.Arg224Ter)	4534	MTM1	Pathogenic	132630306	RCV000011809;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149809883	149809883	NC_000023.10:g.149809883C>T	ClinGen:CA255672,OMIM:300415.0008	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.678+1G>A	4534	MTM1	Pathogenic	587783849	RCV000146475;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149809892	149809892	NC_000023.10:g.149809892G>A	ClinGen:CA271925	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.683T>C (p.Leu228Pro)	4534	MTM1	Pathogenic	587783851	RCV000146477;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149814160	149814160	NC_000023.10:g.149814160T>C	ClinGen:CA271928,UniProtKB:Q13496#VAR_018240	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.721C>T (p.Arg241Cys)	4534	MTM1	Pathogenic	132630305	RCV000011808\|RCV000725013;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596\|MedGen:CN517202	X	149814198	149814198	X:g.149814198C>T	ClinGen:CA255670,UniProtKB:Q13496#VAR_006395,OMIM:300415.0007	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.730C>T (p.Gln244Ter)	4534	MTM1	Pathogenic	2039919698	RCV001244848;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149814207	149814207	X:g.149814207C>T	-
NM_000252.3(MTM1):c.757C>T (p.Arg253Ter)	4534	MTM1	Pathogenic	587783854	RCV000146481\|RCV000578589;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596\|MedGen:CN517202	X	149814234	149814234	NC_000023.10:g.149814234C>T	ClinGen:CA271933	CN517202 not provided;
NM_000252.3(MTM1):c.779A>C (p.Tyr260Ser)	4534	MTM1	Pathogenic	587783855	RCV000146482;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149814256	149814256	NC_000023.10:g.149814256A>C	ClinGen:CA271936	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.782_783del (p.Leu261fs)	4534	MTM1	Pathogenic	-1	RCV003405151;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149814257	149814258		-
NM_000252.3(MTM1):c.791T>G (p.Ile264Ser)	4534	MTM1	Pathogenic	587783856	RCV000146483;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149814268	149814268	NC_000023.10:g.149814268T>G	ClinGen:CA271939,UniProtKB:Q13496#VAR_009219	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.808_811del (p.Gln270fs)	4534	MTM1	Pathogenic	797045720	RCV000193231;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149814282	149814285	NC_000023.10:g.149814282_149814285delAAAC	ClinGen:CA277100	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.819_820dup (p.Leu274fs)	4534	MTM1	Pathogenic	2148493304	RCV001864577;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149814295	149814296	149814295	-
NM_000252.3(MTM1):c.867_867+1dup	4534	MTM1	Pathogenic	797045721	RCV000194416;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149814343	149814344	NC_000023.10:g.149814344_149814345dup	ClinGen:CA277317	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.867+1G>A	4534	MTM1	Pathogenic	587783858	RCV000146485;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149814345	149814345	NC_000023.10:g.149814345G>A	ClinGen:CA271944	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.867+2T>A	4534	MTM1	Pathogenic	-1	RCV003050665;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149814346	149814346	NC_000023.10:g.149814346T>A	-
NM_000252.3(MTM1):c.888_889del (p.Glu296_Ser297insTer)	4534	MTM1	Pathogenic	587783859	RCV000146486;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149818208	149818209	NC_000023.10:g.149818209_149818210delAA	ClinGen:CA271945	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.912del (p.Glu305fs)	4534	MTM1	Pathogenic	587783860	RCV000146487;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149818232	149818232	NC_000023.10:g.149818233delC	ClinGen:CA271946	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.949dup (p.Met317fs)	4534	MTM1	Pathogenic	797045722	RCV000195241;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149818269	149818270	NC_000023.10:g.149818270dupA	ClinGen:CA277460	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.958T>C (p.Ser320Pro)	4534	MTM1	Pathogenic	587783863	RCV000146490;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149818279	149818279	NC_000023.10:g.149818279T>C	ClinGen:CA271950	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.961_962del (p.Leu321fs)	4534	MTM1	Pathogenic	587783864	RCV000146491;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149818281	149818282	NC_000023.10:g.149818282_149818283delTT	ClinGen:CA271953	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.969dup (p.Val324fs)	4534	MTM1	Pathogenic	587783865	RCV000193112\|RCV002503755;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596\|MedGen:CN517202	X	149818283	149818284	NC_000023.10:g.149818290dupA	ClinGen:CA277079	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.969del (p.Lys323_Val324insTer)	4534	MTM1	Pathogenic	587783865	RCV000146492\|RCV001311408;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596\|MedGen:C3661900	X	149818284	149818284	NC_000023.10:g.149818290delA	ClinGen:CA271954	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.1008_1009dup (p.Trp337fs)	4534	MTM1	Pathogenic	2148497926	RCV001949418;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149818328	149818329	149818328	-
NM_000252.3(MTM1):c.1015dup (p.Ser339fs)	4534	MTM1	Pathogenic	797045709	RCV000192362;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149818335	149818336	NC_000023.10:g.149818336dup	ClinGen:CA276957	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.1040T>G (p.Leu347Ter)	4534	MTM1	Pathogenic	398123264	RCV000368501\|RCV002514377;	N	MedGen:CN517202\|MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149818361	149818361	X:g.149818361T>G	ClinGen:CA220524	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.1053+1G>C	4534	MTM1	Pathogenic	587783751	RCV000146372;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149818375	149818375	NC_000023.10:g.149818375G>C	ClinGen:CA271726	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.1053+1G>A	4534	MTM1	Pathogenic	587783751	RCV000781956;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149818375	149818375	NC_000023.10:g.149818375G>A	-
NC_000023.10:g.(?_149826274)_(149840088_?)del	4534	MTM1	Pathogenic	-1	RCV000636904;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149826274	149840088		-	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.1089dup (p.Val364fs)	4534	MTM1	Pathogenic	587783752	RCV000193627\|RCV000583249;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596\|MONDO:MONDO:0018947,MedGen:C0175709,OMIM:PS160150, Orphanet:595	X	149826326	149826327	NC_000023.10:g.149826329dup	ClinGen:CA277179	C0175709 Myotubular myopathy;
NM_000252.3(MTM1):c.1088_1089del (p.Lys363fs)	4534	MTM1	Pathogenic	587783752	RCV000146373\|RCV000724985;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596\|MedGen:CN517202	X	149826327	149826328	NC_000023.10:g.149826328_149826329del	ClinGen:CA271727
NM_000252.3(MTM1):c.1116del (p.Val373fs)	4534	MTM1	Pathogenic	-1	RCV002881504;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149826355	149826355	NC_000023.10:g.149826356del	-
NM_000252.3(MTM1):c.1120C>G (p.His374Asp)	4534	MTM1	Pathogenic	587783754	RCV000146375;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149826360	149826360	NC_000023.10:g.149826360C>G	ClinGen:CA271731,UniProtKB:Q13496#VAR_018247	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.1136G>A (p.Trp379Ter)	4534	MTM1	Pathogenic	587783756	RCV000146377;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149826376	149826376	NC_000023.10:g.149826376G>A	ClinGen:CA271735	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.1137G>A (p.Trp379Ter)	4534	MTM1	Pathogenic	587783757	RCV000146378;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149826377	149826377	NC_000023.10:g.149826377G>A	ClinGen:CA271738	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.1139A>T (p.Asp380Val)	4534	MTM1	Pathogenic	587783758	RCV000146379;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149826379	149826379	NC_000023.10:g.149826379A>T	ClinGen:CA271739	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.1160C>A (p.Ser387Tyr)	4534	MTM1	Pathogenic	587783759	RCV000146380;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149826400	149826400	NC_000023.10:g.149826400C>A	ClinGen:CA271742,UniProtKB:Q13496#VAR_068846	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.1178dup (p.Leu393fs)	4534	MTM1	Pathogenic	1557414513	RCV000499983;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149826416	149826417	NC_000023.10:g.149826418dup	ClinGen:CA645373330	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.1190A>G (p.Tyr397Cys)	4534	MTM1	Pathogenic	132630303	RCV000011803;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149826430	149826430	X:g.149826430A>G	ClinGen:CA255663,UniProtKB:Q13496#VAR_006400,OMIM:300415.0002	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.1191T>G (p.Tyr397Ter)	4534	MTM1	Pathogenic	587783761	RCV000146382;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149826431	149826431	NC_000023.10:g.149826431T>G	ClinGen:CA271747	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.1205G>C (p.Gly402Ala)	4534	MTM1	Pathogenic	587783762	RCV000146383;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149826445	149826445	NC_000023.10:g.149826445G>C	ClinGen:CA271750,UniProtKB:Q13496#VAR_006401	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.1205G>T (p.Gly402Val)	4534	MTM1	Pathogenic	-1	RCV002470596;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149826445	149826445	NC_000023.10:g.149826445G>T	-
NM_000252.2(MTM1):c.1227_1228delinsT (p.Lys409fs)	4534	MTM1	Pathogenic	797045711	RCV000194855;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149826467	149826468	NC_000023.10:g.149826467_149826468delinsT	ClinGen:CA277399	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.1232G>A (p.Trp411Ter)	4534	MTM1	Pathogenic	587783763	RCV000146384;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149826472	149826472	NC_000023.10:g.149826472G>A	ClinGen:CA271752	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.1260+1G>A	4534	MTM1	Pathogenic	587783768	RCV000146389;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149826501	149826501	NC_000023.10:g.149826501G>A	ClinGen:CA271763	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.1260+15C>G	4534	MTM1	Pathogenic	-1	RCV003020017;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149826515	149826515	NC_000023.10:g.149826515C>G	-
NM_000252.3(MTM1):c.1261-1G>C	4534	MTM1	Pathogenic	587783770	RCV000146391;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149828136	149828136	NC_000023.10:g.149828136G>C	ClinGen:CA271765	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.1261C>T (p.Arg421Ter)	4534	MTM1	Pathogenic	587783771	RCV000146392\|RCV000724986\|RCV003389044;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596\|MedGen:C3661900\|MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926	X	149828137	149828137	X:g.149828137C>T	ClinGen:CA271766	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.1262G>A (p.Arg421Gln)	4534	MTM1	Pathogenic	587783772	RCV000146393\|RCV000428593\|RCV001257576;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	X	149828138	149828138	X:g.149828138G>A	ClinGen:CA271769,UniProtKB:Q13496#VAR_006404	CN517202 not provided;
NM_000252.3(MTM1):c.1283del (p.Asn428fs)	4534	MTM1	Pathogenic	797045712	RCV000192715;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149828155	149828155	NC_000023.10:g.149828159delA	ClinGen:CA277011	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.1283_1286del (p.Asn428fs)	4534	MTM1	Pathogenic	587783773	RCV000146394;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149828158	149828161	NC_000023.10:g.149828159_149828162delACCA	ClinGen:CA271771	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.1306_1308del (p.Pro436del)	4534	MTM1	Pathogenic	797045713	RCV000193932;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149828180	149828182	NC_000023.10:g.149828180_149828182delCTC	ClinGen:CA277226	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.1307del (p.Pro436fs)	4534	MTM1	Pathogenic	587783775	RCV000146396;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149828182	149828182	NC_000023.10:g.149828183delC	ClinGen:CA271775	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.1337G>A (p.Trp446Ter)	4534	MTM1	Pathogenic	587783778	RCV000146399;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149828213	149828213	NC_000023.10:g.149828213G>A	ClinGen:CA271782	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.1349_1353+4del	4534	MTM1	Pathogenic	797045715	RCV000192959;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149828223	149828231	NC_000023.10:g.149828225_149828233del	ClinGen:CA277057	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.1353+1G>A	4534	MTM1	Pathogenic	587783779	RCV000146400;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149828230	149828230	NC_000023.10:g.149828230G>A	ClinGen:CA271785	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.1353+2T>C	4534	MTM1	Pathogenic	587783780	RCV000146401;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149828231	149828231	NC_000023.10:g.149828231T>C	ClinGen:CA271786	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.1354-1G>A	4534	MTM1	Pathogenic	587783782	RCV000146403;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149828843	149828843	NC_000023.10:g.149828843G>A	ClinGen:CA271790	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.1376A>T (p.Asn459Ile)	4534	MTM1	Pathogenic	587783785	RCV000146406;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149828866	149828866	NC_000023.10:g.149828866A>T	ClinGen:CA271795	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.1378G>T (p.Glu460Ter)	4534	MTM1	Pathogenic	587783786	RCV000146407;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149828868	149828868	NC_000023.10:g.149828868G>T	ClinGen:CA271798	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.1381C>T (p.Gln461Ter)	4534	MTM1	Pathogenic	782234944	RCV000781954\|RCV001543470;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596\|MedGen:CN517202	X	149828871	149828871	NC_000023.10:g.149828871C>T	-
NM_000252.3(MTM1):c.1420C>T (p.Arg474Ter)	4534	MTM1	Pathogenic	587783792	RCV000146414\|RCV000523062;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596\|MedGen:CN517202	X	149828910	149828910	NC_000023.10:g.149828910C>T	ClinGen:CA271814	CN517202 not provided;
NM_000252.3(MTM1):c.1427G>T (p.Gly476Val)	4534	MTM1	Pathogenic	587783793	RCV000146415;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149828917	149828917	NC_000023.10:g.149828917G>T	ClinGen:CA271817	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.1433T>C (p.Phe478Ser)	4534	MTM1	Pathogenic	587783794	RCV000146416;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149828923	149828923	NC_000023.10:g.149828923T>C	ClinGen:CA271820	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.1447G>T (p.Glu483Ter)	4534	MTM1	Pathogenic	2148511944	RCV001388878;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149828937	149828937	149828937	-
NM_000252.3(MTM1):c.1456C>T (p.Arg486Ter)	4534	MTM1	Pathogenic	587783795	RCV000146417;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149828946	149828946	NC_000023.10:g.149828946C>T	ClinGen:CA271823	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.1459G>T (p.Glu487Ter)	4534	MTM1	Pathogenic	2148511970	RCV001388363;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149828949	149828949	149828949	-
NM_000252.3(MTM1):c.1467+1G>A	4534	MTM1	Pathogenic	587783798	RCV000146421;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149828958	149828958	NC_000023.10:g.149828958G>A	ClinGen:CA271832	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.1467+1G>T	4534	MTM1	Pathogenic	587783798	RCV000146422;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149828958	149828958	NC_000023.10:g.149828958G>T	ClinGen:CA271833	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.1467+2T>A	4534	MTM1	Pathogenic	587783799	RCV000146423;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149828959	149828959	NC_000023.10:g.149828959T>A	ClinGen:CA271834	C0410203 310400 Severe X-linked myotubular myopathy;
NC_000023.10:g.(?_149831886)_(149840088_?)del	4534	MTM1	Pathogenic	-1	RCV000800047;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149831886	149840088		-
NC_000023.10:g.(?_149831896)_(149832092_?)del	4534	MTM1	Pathogenic	-1	RCV001032512;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149831896	149832092	-1	-
NM_000252.3(MTM1):c.1495T>C (p.Trp499Arg)	4534	MTM1	Pathogenic	587783801	RCV000146425;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149831933	149831933	NC_000023.10:g.149831933T>C	ClinGen:CA271838,UniProtKB:Q13496#VAR_006409	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.1509_1510del (p.Asn503fs)	4534	MTM1	Pathogenic	-1	RCV003050666;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149831946	149831947	NC_000023.10:g.149831947_149831948del	-
NM_000252.3(MTM1):c.1546A>T (p.Lys516Ter)	4534	MTM1	Pathogenic	868972342	RCV001384969;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149831984	149831984	149831984	-
NM_000252.3(MTM1):c.1558C>T (p.Arg520Ter)	4534	MTM1	Pathogenic	587783805	RCV000146429;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149831996	149831996	X:g.149831996C>T	ClinGen:CA271843	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.1644+1G>A	4534	MTM1	Pathogenic	398123272	RCV001196667;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149832083	149832083	X:g.149832083G>A	-
NM_000252.3(MTM1):c.1792del (p.His598fs)	4534	MTM1	Pathogenic	34119065	RCV000146432;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149840045	149840045	NC_000023.10:g.149840048delC	ClinGen:CA271849	C0410203 310400 Severe X-linked myotubular myopathy;
NC_000023.10:g.(?_149761093)_(149767213_?)del	4534	MTM1	Likely pathogenic	-1	RCV003122269;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149761093	149767213		-
NM_000252.3(MTM1):c.63+3A>T	4534	MTM1	Likely pathogenic	587783844	RCV000146469;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149761142	149761142	NC_000023.10:g.149761142A>T	ClinGen:CA271915	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.97G>T (p.Glu33Ter)	4534	MTM1	Likely pathogenic	2038978870	RCV001264141;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149764995	149764995	X:g.149764995G>T	-
NM_000252.3(MTM1):c.100del (p.Ala34fs)	4534	MTM1	Likely pathogenic	-1	RCV002290209;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149764997	149764997	149764996	-
NC_000023.10:g.(?_149783042)_(149787632_?)del	4534	MTM1	Likely pathogenic	-1	RCV000798816;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149783042	149787632		-
NM_000252.3(MTM1):c.302_303del (p.Ser101fs)	4534	MTM1	Likely pathogenic	-1	RCV002308372;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149783132	149783133	149783131	-
NM_000252.3(MTM1):c.326T>C (p.Leu109Pro)	4534	MTM1	Likely pathogenic	2148456078	RCV002262179;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149783156	149783156	149783156	-
NM_000252.3(MTM1):c.342+4A>G	4534	MTM1	Likely pathogenic	587783820	RCV000146445;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149783176	149783176	NC_000023.10:g.149783176A>G	ClinGen:CA271872	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.343-1G>A	4534	MTM1	Likely pathogenic	2148461695	RCV002038733;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149787510	149787510	149787510	-
NM_000252.3(MTM1):c.350_351del (p.Arg117fs)	4534	MTM1	Likely pathogenic	-1	RCV002306567;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149787516	149787517	149787515	-
NM_000252.3(MTM1):c.388A>T (p.Arg130Ter)	4534	MTM1	Likely pathogenic	2039434309	RCV001264142;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149787556	149787556	X:g.149787556A>T	-
NM_000252.3(MTM1):c.405_408delinsTT (p.Glu135fs)	4534	MTM1	Likely pathogenic	-1	RCV002306558;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149787573	149787576	149787573	-
NM_000252.3(MTM1):c.414_421dup (p.Ala141fs)	4534	MTM1	Likely pathogenic	-1	RCV002281652;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149787581	149787582	149787581	-
NM_000252.3(MTM1):c.444+2T>A	4534	MTM1	Likely pathogenic	-1	RCV002856710;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149787614	149787614	NC_000023.10:g.149787614T>A	-
NM_000252.3(MTM1):c.487G>T (p.Gly163Ter)	4534	MTM1	Likely pathogenic	2039802744	RCV001264143;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149807458	149807458	X:g.149807458G>T	-
NM_000252.3(MTM1):c.550A>T (p.Arg184Ter)	4534	MTM1	Likely pathogenic	-1	RCV002307949;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149809763	149809763	149809763	-
NM_000252.3(MTM1):c.575A>G (p.Tyr192Cys)	4534	MTM1	Likely pathogenic	587783838	RCV000146463\|RCV003329244;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596\|MedGen:CN517202	X	149809788	149809788	NC_000023.10:g.149809788A>G	ClinGen:CA271902	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.592T>C (p.Tyr198His)	4534	MTM1	Likely pathogenic	2039845128	RCV001196503;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149809805	149809805	X:g.149809805T>C	-
NM_000252.3(MTM1):c.676C>A (p.Pro226Thr)	4534	MTM1	Likely pathogenic	587783848	RCV000146474;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149809889	149809889	NC_000023.10:g.149809889C>A	ClinGen:CA271923,UniProtKB:Q13496#VAR_018238	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.679-2A>C	4534	MTM1	Likely pathogenic	-1	RCV002289425;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149814154	149814154	149814154	-
NM_000252.3(MTM1):c.679-1G>A	4534	MTM1	Likely pathogenic	672601324	RCV000011805;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149814155	149814155	X:g.149814155G>A	ClinGen:CA255667,OMIM:300415.0004	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.728G>A (p.Ser243Asn)	4534	MTM1	Likely pathogenic	2039919583	RCV001042735;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149814205	149814205	X:g.149814205G>A	-
NM_000252.3(MTM1):c.730_731del (p.Gln244fs)	4534	MTM1	Likely pathogenic	-1	RCV002306880;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149814207	149814208	149814206	-
NM_000252.3(MTM1):c.743G>T (p.Gly248Val)	4534	MTM1	Likely pathogenic	587783853	RCV000146480;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149814220	149814220	NC_000023.10:g.149814220G>T	ClinGen:CA271930	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.763A>T (p.Lys255Ter)	4534	MTM1	Likely pathogenic	-1	RCV002309311;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149814240	149814240	149814240	-
NM_000252.3(MTM1):c.805A>T (p.Lys269Ter)	4534	MTM1	Likely pathogenic	2039921355	RCV001264263;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149814282	149814282	X:g.149814282A>T	-
NM_000252.3(MTM1):c.838A>T (p.Arg280Ter)	4534	MTM1	Likely pathogenic	2039922261	RCV001264264;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149814315	149814315	X:g.149814315A>T	-
NC_000023.10:g.(?_149818176)_(149818384_?)del	4534	MTM1	Likely pathogenic	-1	RCV003122266;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149818176	149818384		-
NC_000023.11:g.150649717_150649723del	4534	MTM1	Likely pathogenic	-1	RCV003224768;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149818187	149818193		-
NM_000252.3(MTM1):c.921CTT[1] (p.Phe308del)	4534	MTM1	Likely pathogenic	587783862	RCV000146489;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149818240	149818242	X:g.149818240_149818242del	ClinGen:CA271947	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.925_926del (p.Leu309fs)	4534	MTM1	Likely pathogenic	-1	RCV002309649;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149818246	149818247	149818245	-
NM_000252.3(MTM1):c.935_936insACTGTCTC (p.His312fs)	4534	MTM1	Likely pathogenic	-1	RCV002307199;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149818256	149818257	149818256	-
NM_000252.3(MTM1):c.1011G>A (p.Trp337Ter)	4534	MTM1	Likely pathogenic	-1	RCV002306487;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149818332	149818332	149818332	-
NM_000252.3(MTM1):c.1022T>A (p.Leu341Ter)	4534	MTM1	Likely pathogenic	-1	RCV002309515;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149818343	149818343	149818343	-
NM_000252.3(MTM1):c.1036T>C (p.Trp346Arg)	4534	MTM1	Likely pathogenic	587783750	RCV000146371;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149818357	149818357	NC_000023.10:g.149818357T>C	ClinGen:CA271723	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.1037G>A (p.Trp346Ter)	4534	MTM1	Likely pathogenic	781939560	RCV001264265;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149818358	149818358	X:g.149818358G>A	-
NM_000252.3(MTM1):c.1045_1046insCCCCT (p.His349fs)	4534	MTM1	Likely pathogenic	-1	RCV002306596;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149818366	149818367	149818366	-
NC_000023.10:g.(?_149826274)_(149826520_?)del	4534	MTM1	Likely pathogenic	-1	RCV000708218;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149826274	149826520		-	C0410203 310400 Severe X-linked myotubular myopathy;
NC_000023.10:g.(?_149826294)_(149826500_?)del	4534	MTM1	Likely pathogenic	-1	RCV000708212;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149826294	149826500		-	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.1057_1058insACGA (p.Val353fs)	4534	MTM1	Likely pathogenic	-1	RCV002310443;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149826297	149826298	149826297	-
NM_000252.3(MTM1):c.1132G>T (p.Gly378Ter)	4534	MTM1	Likely pathogenic	587783755	RCV001264266;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149826372	149826372	X:g.149826372G>T	-
NM_000252.3(MTM1):c.1133G>T (p.Gly378Val)	4534	MTM1	Likely pathogenic	2040150416	RCV001329126;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149826373	149826373	149826373	-
NM_000252.3(MTM1):c.1153_1156delinsTGT (p.Leu385fs)	4534	MTM1	Likely pathogenic	-1	RCV002306552;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149826393	149826396	149826393	-
NM_000252.3(MTM1):c.1180G>C (p.Asp394His)	4534	MTM1	Likely pathogenic	587783760	RCV000146381;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149826420	149826420	NC_000023.10:g.149826420G>C	ClinGen:CA271744	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.1195_1199delinsTGC (p.Ser399fs)	4534	MTM1	Likely pathogenic	-1	RCV002309889;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149826435	149826439	149826435	-
NM_000252.3(MTM1):c.1201G>T (p.Glu401Ter)	4534	MTM1	Likely pathogenic	2040152185	RCV001264267;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149826441	149826441	X:g.149826441G>T	-
NM_000252.3(MTM1):c.1204G>A (p.Gly402Arg)	4534	MTM1	Likely pathogenic	1569565525	RCV000700810;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149826444	149826444	X:g.149826444G>A	-	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.1233G>T (p.Trp411Cys)	4534	MTM1	Likely pathogenic	587783764	RCV000146385;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149826473	149826473	NC_000023.10:g.149826473G>T	ClinGen:CA271755,UniProtKB:Q13496#VAR_018253	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.1261-2A>C	4534	MTM1	Likely pathogenic	2148510791	RCV001379511;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149828135	149828135	149828135	-
NM_000252.3(MTM1):c.1307C>T (p.Pro436Leu)	4534	MTM1	Likely pathogenic	587783774	RCV000146395;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149828183	149828183	NC_000023.10:g.149828183C>T	ClinGen:CA271772	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.1319del (p.Gln440fs)	4534	MTM1	Likely pathogenic	-1	RCV002308014;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149828195	149828195	149828194	-
NM_000252.3(MTM1):c.1325T>A (p.Ile442Asn)	4534	MTM1	Likely pathogenic	587783776	RCV000146397;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149828201	149828201	NC_000023.10:g.149828201T>A	ClinGen:CA271776	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.1328A>C (p.Asp443Ala)	4534	MTM1	Likely pathogenic	587783777	RCV000146398;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149828204	149828204	NC_000023.10:g.149828204A>C	ClinGen:CA271779	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.1354-2A>T	4534	MTM1	Likely pathogenic	781835307	RCV001239440;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149828842	149828842	X:g.149828842A>T	-
NM_000252.3(MTM1):c.1372T>G (p.Phe458Val)	4534	MTM1	Likely pathogenic	-1	RCV003314500;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149828862	149828862		-
NM_000252.3(MTM1):c.1388T>C (p.Leu463Ser)	4534	MTM1	Likely pathogenic	587783787	RCV000146408;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149828878	149828878	NC_000023.10:g.149828878T>C	ClinGen:CA271801	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.1388T>G (p.Leu463Trp)	4534	MTM1	Likely pathogenic	587783787	RCV000146409;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149828878	149828878	NC_000023.10:g.149828878T>G	ClinGen:CA271804	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.1468-2A>G	4534	MTM1	Likely pathogenic	-1	RCV003461979;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149831904	149831904		-
NM_000252.3(MTM1):c.1778C>A (p.Ser593Ter)	4534	MTM1	Likely pathogenic	-1	RCV003461978;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149840034	149840034		-
NC_000023.10:g.(?_149613783)_(149840068_?)dup	4534	MTM1	Uncertain significance	-1	RCV003122265;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149613783	149840068		-
NC_000023.10:g.(?_149761067)_(150573540_?)dup	4534	MTM1	Uncertain significance	-1	RCV001031813;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149761067	150573540	-1	-
NC_000023.10:g.(?_149761077)_(149787632_?)dup	4534	MTM1	Uncertain significance	-1	RCV003122267;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149761077	149787632		-
NM_000252.3(MTM1):c.5C>T (p.Ala2Val)	4534	MTM1	Uncertain significance	1603118990	RCV000800620;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149761081	149761081	X:g.149761081C>T	-
NM_000252.3(MTM1):c.15A>C (p.Ser5=)	4534	MTM1	Likely benign	2148425501	RCV001425852;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149761091	149761091	149761091	-
NM_000252.3(MTM1):c.21T>G (p.Ser7=)	4534	MTM1	Likely benign	-1	RCV002913943;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149761097	149761097		-
NM_000252.3(MTM1):c.32C>T (p.Ser11Leu)	4534	MTM1	Uncertain significance	-1	RCV003078588;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149761108	149761108	NC_000023.10:g.149761108C>T	-
NM_000252.3(MTM1):c.38C>T (p.Ser13Phe)	4534	MTM1	Conflicting interpretations of pathogenicity	144473998	RCV001398779\|RCV003159207\|RCV003169981;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	X	149761114	149761114	149761114	-
NM_000252.3(MTM1):c.51G>A (p.Glu17=)	4534	MTM1	Likely benign	148455726	RCV001457866;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149761127	149761127	149761127	-
NM_000252.3(MTM1):c.55A>C (p.Ile19Leu)	4534	MTM1	Benign	1408923946	RCV000931670;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149761131	149761131	X:g.149761131A>C	-
NM_000252.3(MTM1):c.63+7del	4534	MTM1	Benign/Likely benign	782222093	RCV000599834\|RCV000876026;	N	MedGen:CN169374\|MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149761145	149761145	X:g.149761145_149761145del	ClinGen:CA10539021	CN169374 not specified;
NM_000252.3(MTM1):c.64-14T>C	4534	MTM1	Benign	184956219	RCV000146471\|RCV002055905;	N	MedGen:CN169374\|MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149764948	149764948	X:g.149764948T>C	ClinGen:CA172603	CN169374 not specified;
NM_000252.3(MTM1):c.64-9T>C	4534	MTM1	Likely benign	189752798	RCV000975344;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149764953	149764953	X:g.149764953T>C	-
NM_000252.3(MTM1):c.64-7T>C	4534	MTM1	Likely benign	1603123969	RCV001438665;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149764955	149764955	X:g.149764955T>C	-
NM_000252.3(MTM1):c.65C>T (p.Thr22Met)	4534	MTM1	Uncertain significance	781886721	RCV000700367;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149764963	149764963	NC_000023.10:g.149764963C>T	-	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.66G>A (p.Thr22=)	4534	MTM1	Likely benign	781793926	RCV001482314;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149764964	149764964	149764964	-
NM_000252.3(MTM1):c.76_90del (p.Gly26_Asp30del)	4534	MTM1	Uncertain significance	1603124011	RCV000815856;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149764967	149764981	X:g.149764967_149764981del	-
NM_000252.3(MTM1):c.71G>A (p.Arg24Gln)	4534	MTM1	Uncertain significance	-1	RCV002933641;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149764969	149764969	NC_000023.10:g.149764969G>A	-
NM_000252.3(MTM1):c.86G>A (p.Arg29Gln)	4534	MTM1	Benign	782072494	RCV001522731;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149764984	149764984	149764984	-
NM_000252.3(MTM1):c.102T>C (p.Ala34=)	4534	MTM1	Likely benign	-1	RCV002653697;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149765000	149765000		-
NM_000252.3(MTM1):c.111A>G (p.Arg37=)	4534	MTM1	Likely benign	2038979283	RCV001408257;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149765009	149765009	149765009	-
NM_000252.3(MTM1):c.126A>G (p.Thr42=)	4534	MTM1	Likely benign	782801257	RCV002202998;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149765024	149765024	149765024	-
NM_000252.3(MTM1):c.136+5G>A	4534	MTM1	Uncertain significance	-1	RCV002579298;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149765039	149765039	NC_000023.10:g.149765039G>A	-
NM_000252.3(MTM1):c.136+7A>T	4534	MTM1	Likely benign	782025629	RCV002088540;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149765041	149765041	149765041	-
NM_000252.3(MTM1):c.136+9C>T	4534	MTM1	Benign	191553188	RCV000548653\|RCV001796751\|RCV001796102;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596\|MedGen:CN169374\|MedGen:C3661900	X	149765043	149765043	X:g.149765043C>T	ClinGen:CA10539043	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.136+10T>G	4534	MTM1	Likely benign	782382879	RCV001399284;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149765044	149765044	149765044	-
NM_000252.3(MTM1):c.136+17A>G	4534	MTM1	Benign	142891103	RCV000613451\|RCV002062830;	N	MedGen:CN169374\|MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149765051	149765051	X:g.149765051A>G	ClinGen:CA10539045	CN169374 not specified;
NM_000252.3(MTM1):c.136+172T>C	4534	MTM1	Uncertain significance	-1	RCV003226051;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149765206	149765206		-
NM_000252.3(MTM1):c.137-18del	4534	MTM1	Likely benign	-1	RCV002938339;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149767038	149767038	NC_000023.10:g.149767038del	-
NM_000252.3(MTM1):c.137-7T>G	4534	MTM1	Uncertain significance	587783784	RCV000146405;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149767049	149767049	NC_000023.10:g.149767049T>G	ClinGen:CA271794	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.141A>G (p.Lys47=)	4534	MTM1	Uncertain significance	587783790	RCV000146412;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149767060	149767060	NC_000023.10:g.149767060A>G	ClinGen:CA271813	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.145G>A (p.Val49Ile)	4534	MTM1	Conflicting interpretations of pathogenicity	587783796	RCV000146418;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149767064	149767064	NC_000023.10:g.149767064G>A	ClinGen:CA271826	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.147T>A (p.Val49=)	4534	MTM1	Likely benign	2148434016	RCV001400288;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149767066	149767066	149767066	-
NM_000252.3(MTM1):c.153C>T (p.Tyr51=)	4534	MTM1	Likely benign	2148434034	RCV002169104;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149767072	149767072	149767072	-
NM_000252.3(MTM1):c.171C>A (p.Gly57=)	4534	MTM1	Likely benign	782505553	RCV002087722;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149767090	149767090	149767090	-
NM_000252.3(MTM1):c.175A>G (p.Ile59Val)	4534	MTM1	Uncertain significance	782451760	RCV001214396;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149767094	149767094	X:g.149767094A>G	-
NM_000252.3(MTM1):c.176T>C (p.Ile59Thr)	4534	MTM1	Benign	782217375	RCV000905685;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149767095	149767095	X:g.149767095T>C	-
NM_000252.3(MTM1):c.180G>A (p.Lys60=)	4534	MTM1	Likely benign	-1	RCV002650048;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149767099	149767099		-
NM_000252.3(MTM1):c.206G>A (p.Arg69His)	4534	MTM1	Uncertain significance	782277980	RCV001896628;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149767125	149767125	149767125	-
NM_000252.3(MTM1):c.214T>C (p.Leu72=)	4534	MTM1	Likely benign	-1	RCV003022111;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149767133	149767133		-
NM_000252.3(MTM1):c.223T>C (p.Leu75=)	4534	MTM1	Benign	-1	RCV003007475;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149767142	149767142		-
NM_000252.3(MTM1):c.230C>T (p.Thr77Met)	4534	MTM1	Conflicting interpretations of pathogenicity	782640338	RCV000939442\|RCV003363023;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596\|MeSH:D030342,MedGen:C0950123	X	149767149	149767149	X:g.149767149C>T	-
NM_000252.3(MTM1):c.231+8G>A	4534	MTM1	Likely benign	2148434174	RCV001492420;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149767158	149767158	149767158	-
NM_000252.3(MTM1):c.231+10A>G	4534	MTM1	Likely benign	1231679121	RCV002109578;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149767160	149767160	149767160	-
NM_000252.3(MTM1):c.232-54A>T	4534	MTM1	Likely benign	143312552	RCV001592208\|RCV001832821;	N	MedGen:C3661900\|MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149783008	149783008	149783008	-
NM_000252.3(MTM1):c.232-28C>T	4534	MTM1	Benign	73620649	RCV001659438\|RCV001827571;	N	MedGen:C3661900\|MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149783034	149783034	149783034	-
NC_000023.10:g.(?_149783052)_(149840078_?)dup	4534	MTM1	Uncertain significance	-1	RCV001032563;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149783052	149840078	-1	-
NM_000252.3(MTM1):c.232-8C>T	4534	MTM1	Likely benign	782389461	RCV002166428;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149783054	149783054	149783054	-
NM_000252.3(MTM1):c.232-7A>G	4534	MTM1	Likely benign	373045797	RCV000542548;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149783055	149783055	NC_000023.10:g.149783055A>G	ClinGen:CA10539068	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.232G>C (p.Asp78His)	4534	MTM1	Uncertain significance	-1	RCV002741628;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149783062	149783062	NC_000023.10:g.149783062G>C	-
NM_000252.3(MTM1):c.233A>T (p.Asp78Val)	4534	MTM1	Uncertain significance	782215492	RCV000821584;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149783063	149783063	X:g.149783063A>T	-
NM_000252.3(MTM1):c.258T>C (p.Pro86=)	4534	MTM1	Benign	782702345	RCV002125320;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149783088	149783088	149783088	-
NM_000252.3(MTM1):c.272C>T (p.Ser91Leu)	4534	MTM1	Likely benign	782148152	RCV002182529;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149783102	149783102	149783102	-
NM_000252.3(MTM1):c.273G>A (p.Ser91=)	4534	MTM1	Likely benign	1447559040	RCV001506660;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149783103	149783103	149783103	-
NM_000252.3(MTM1):c.278T>C (p.Ile93Thr)	4534	MTM1	Uncertain significance	199821243	RCV001898303;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149783108	149783108	149783108	-
NM_000252.3(MTM1):c.285A>G (p.Lys95=)	4534	MTM1	Likely benign	1292849674	RCV002150443;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149783115	149783115	149783115	-
NM_000252.3(MTM1):c.294C>T (p.Gly98=)	4534	MTM1	Likely benign	-1	RCV002441841\|RCV003102912;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149783124	149783124		-
NM_000252.3(MTM1):c.295G>A (p.Ala99Thr)	4534	MTM1	Uncertain significance	-1	RCV003019237;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149783125	149783125	NC_000023.10:g.149783125G>A	-
NM_000252.3(MTM1):c.296C>T (p.Ala99Val)	4534	MTM1	Benign	-1	RCV002622621;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149783126	149783126	NC_000023.10:g.149783126C>T	-
NM_000252.3(MTM1):c.297G>A (p.Ala99=)	4534	MTM1	Benign	781784303	RCV001521199;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149783127	149783127	149783127	-
NM_000252.3(MTM1):c.301A>G (p.Ser101Gly)	4534	MTM1	Conflicting interpretations of pathogenicity	587783818	RCV000146443;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149783131	149783131	NC_000023.10:g.149783131A>G	ClinGen:CA271866	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.335C>G (p.Thr112Ser)	4534	MTM1	Uncertain significance	-1	RCV003097575;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149783165	149783165	NC_000023.10:g.149783165C>G	-
NM_000252.3(MTM1):c.336T>A (p.Thr112=)	4534	MTM1	Likely benign	-1	RCV003085743;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149783166	149783166		-
NM_000252.3(MTM1):c.339T>C (p.Cys113=)	4534	MTM1	Benign	147644722	RCV000354524\|RCV000636899\|RCV001764249;	N	MedGen:CN169374\|MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596\|MedGen:C3661900	X	149783169	149783169	X:g.149783169T>C	ClinGen:CA10539080	CN169374 not specified;
NM_000252.3(MTM1):c.342+9T>C	4534	MTM1	Likely benign	2148456159	RCV001491774;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149783181	149783181	149783181	-
NM_000252.3(MTM1):c.342+9T>G	4534	MTM1	Likely benign	-1	RCV003115769;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149783181	149783181	NC_000023.10:g.149783181T>G	-
NM_000252.3(MTM1):c.343-12C>T	4534	MTM1	Likely benign	2039433672	RCV002084798;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149787499	149787499	149787499	-
NM_000252.3(MTM1):c.343-3dup	4534	MTM1	Benign	2148461677	RCV002173653;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149787503	149787504	149787503	-
NM_000252.3(MTM1):c.345C>T (p.Asp115=)	4534	MTM1	Likely benign	2148461700	RCV002072521;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149787513	149787513	149787513	-
NM_000252.3(MTM1):c.359G>A (p.Arg120Lys)	4534	MTM1	Uncertain significance	-1	RCV002700863;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149787527	149787527	NC_000023.10:g.149787527G>A	-
NM_000252.3(MTM1):c.363C>T (p.Phe121=)	4534	MTM1	Benign	-1	RCV003089592;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149787531	149787531		-
NM_000252.3(MTM1):c.375G>A (p.Gln125=)	4534	MTM1	Likely benign	-1	RCV002949035;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149787543	149787543		-
NM_000252.3(MTM1):c.387C>T (p.Ser129=)	4534	MTM1	Likely benign	-1	RCV002900644;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149787555	149787555		-
NM_000252.3(MTM1):c.397A>G (p.Met133Val)	4534	MTM1	Uncertain significance	2039434563	RCV001064329;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149787565	149787565	X:g.149787565A>G	-
NM_000252.3(MTM1):c.420C>T (p.Tyr140=)	4534	MTM1	Likely benign	587783825	RCV001418863;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149787588	149787588	X:g.149787588C>T	-
NM_000252.3(MTM1):c.421G>C (p.Ala141Pro)	4534	MTM1	Uncertain significance	1557413215	RCV001306172;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149787589	149787589	149787589	-
NM_000252.3(MTM1):c.422C>T (p.Ala141Val)	4534	MTM1	Conflicting interpretations of pathogenicity	140642341	RCV000194154\|RCV000552763\|RCV003430746\|RCV002517954;	N	MedGen:CN169374\|MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	X	149787590	149787590	NC_000023.10:g.149787590C>T	ClinGen:CA208132	CN169374 not specified;
NM_000252.3(MTM1):c.423G>A (p.Ala141=)	4534	MTM1	Likely benign	377311110	RCV000636900;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149787591	149787591	X:g.149787591G>A	ClinGen:CA10539096	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.426T>C (p.Phe142=)	4534	MTM1	Likely benign	1443261976	RCV001498007;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149787594	149787594	149787594	-
NM_000252.3(MTM1):c.432G>T (p.Leu144=)	4534	MTM1	Likely benign	2148461815	RCV001411099;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149787600	149787600	149787600	-
NM_000252.3(MTM1):c.439A>G (p.Ser147Gly)	4534	MTM1	Uncertain significance	964287315	RCV001044222;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149787607	149787607	X:g.149787607A>G	-
NM_000252.3(MTM1):c.444+10A>G	4534	MTM1	Likely benign	782479470	RCV001439795;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149787622	149787622	149787622	-
NM_000252.3(MTM1):c.444+12T>C	4534	MTM1	Likely benign	2148461835	RCV002132595;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149787624	149787624	149787624	-
NM_000252.3(MTM1):c.444+15T>C	4534	MTM1	Likely benign	-1	RCV003113022;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149787627	149787627	NC_000023.10:g.149787627T>C	-
NM_000252.3(MTM1):c.445-20T>C	4534	MTM1	Likely benign	-1	RCV003029586;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149807396	149807396	NC_000023.10:g.149807396T>C	-
NM_000252.3(MTM1):c.445-17T>G	4534	MTM1	Likely benign	73250563	RCV002096553;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149807399	149807399	149807399	-
NC_000023.10:g.(?_149807406)_(149814354_?)dup	4534	MTM1	Uncertain significance	-1	RCV001930354;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149807406	149814354	-1	-
NM_000252.3(MTM1):c.446C>G (p.Pro149Arg)	4534	MTM1	Benign	2148485707	RCV001516072;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149807417	149807417	149807417	-
NM_000252.3(MTM1):c.447A>G (p.Pro149=)	4534	MTM1	Likely benign	782149231	RCV001400180;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149807418	149807418	X:g.149807418A>G	-
NM_000252.3(MTM1):c.456A>G (p.Ala152=)	4534	MTM1	Likely benign	-1	RCV002917924;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149807427	149807427		-
NM_000252.3(MTM1):c.480C>T (p.Asn160=)	4534	MTM1	Likely benign	782480422	RCV001505535;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149807451	149807451	149807451	-
NM_000252.3(MTM1):c.481G>A (p.Val161Met)	4534	MTM1	Uncertain significance	782744530	RCV000693657\|RCV002291287;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596\|MedGen:CN517202	X	149807452	149807452	X:g.149807452G>A	-	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.495A>G (p.Thr165=)	4534	MTM1	Likely benign	-1	RCV002909002;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149807466	149807466		-
NM_000252.3(MTM1):c.501C>T (p.Tyr167=)	4534	MTM1	Likely benign	2039803075	RCV002093089;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149807472	149807472	149807472	-
NM_000252.3(MTM1):c.508G>C (p.Val170Leu)	4534	MTM1	Conflicting interpretations of pathogenicity	782274835	RCV001514668\|RCV003346590;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596\|MeSH:D030342,MedGen:C0950123	X	149807479	149807479	149807479	-
NM_000252.3(MTM1):c.519C>T (p.Tyr173=)	4534	MTM1	Likely benign	2148485835	RCV002097041;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149807490	149807490	149807490	-
NM_000252.3(MTM1):c.526C>A (p.Gln176Lys)	4534	MTM1	Uncertain significance	587783829	RCV000146454;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149807497	149807497	NC_000023.10:g.149807497C>A	ClinGen:CA271887	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.528+7T>C	4534	MTM1	Likely benign	782460237	RCV001279581;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149807506	149807506	X:g.149807506T>C	-
NM_000252.3(MTM1):c.528+17T>A	4534	MTM1	Likely benign	2148485858	RCV002139352;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149807516	149807516	149807516	-
NM_000252.3(MTM1):c.530G>T (p.Gly177Val)	4534	MTM1	Uncertain significance	1603187659	RCV000804374;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149809743	149809743	X:g.149809743G>T	-
NM_000252.3(MTM1):c.533T>C (p.Leu178Ser)	4534	MTM1	Conflicting interpretations of pathogenicity	2148488364	RCV001358686\|RCV002282529;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596\|MedGen:CN169374	X	149809746	149809746	149809746	-
NM_000252.3(MTM1):c.535C>A (p.Pro179Thr)	4534	MTM1	Uncertain significance	587783832	RCV001327875;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149809748	149809748	149809748	-
NM_000252.3(MTM1):c.539A>G (p.Asn180Ser)	4534	MTM1	Benign	781995404	RCV001515039;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149809752	149809752	149809752	-
NM_000252.3(MTM1):c.543C>G (p.His181Gln)	4534	MTM1	Uncertain significance	1603187692	RCV000821382;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149809756	149809756	X:g.149809756C>G	-
NM_000252.3(MTM1):c.544C>T (p.His182Tyr)	4534	MTM1	Uncertain significance	2148488398	RCV001961655;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149809757	149809757	149809757	-
NM_000252.3(MTM1):c.546T>C (p.His182=)	4534	MTM1	Benign	782217349	RCV000898166;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149809759	149809759	X:g.149809759T>C	-
NM_000252.3(MTM1):c.553A>T (p.Ile185Leu)	4534	MTM1	Uncertain significance	2148488427	RCV002047583;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149809766	149809766	149809766	-
NM_000252.3(MTM1):c.562A>C (p.Ile188Leu)	4534	MTM1	Uncertain significance	-1	RCV002297702;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149809775	149809775	149809775	-
NM_000252.3(MTM1):c.570G>A (p.Lys190=)	4534	MTM1	Likely benign	782411810	RCV001465905;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149809783	149809783	149809783	-
NM_000252.3(MTM1):c.576T>C (p.Tyr192=)	4534	MTM1	Likely benign	2148488477	RCV002177055;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149809789	149809789	149809789	-
NM_000252.3(MTM1):c.582C>T (p.Leu194=)	4534	MTM1	Benign/Likely benign	367912069	RCV000433479\|RCV000541166;	N	MedGen:CN169374\|MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149809795	149809795	X:g.149809795C>T	ClinGen:CA10539132	CN169374 not specified;
NM_000252.3(MTM1):c.603T>C (p.Leu201=)	4534	MTM1	Likely benign	1557413854	RCV002102131;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149809816	149809816	149809816	-
NM_000252.3(MTM1):c.615G>A (p.Pro205=)	4534	MTM1	Benign	144517020	RCV000890058;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149809828	149809828	X:g.149809828G>A	-
NM_000252.3(MTM1):c.619C>T (p.Arg207Cys)	4534	MTM1	Uncertain significance	1470686963	RCV001928247;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149809832	149809832	149809832	-
NM_000252.3(MTM1):c.620G>A (p.Arg207His)	4534	MTM1	Benign	187357952	RCV000973856;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149809833	149809833	X:g.149809833G>A	-
NM_000252.3(MTM1):c.629A>T (p.Asp210Val)	4534	MTM1	Uncertain significance	-1	RCV002834198;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149809842	149809842	NC_000023.10:g.149809842A>T	-
NM_000252.3(MTM1):c.641G>A (p.Arg214Gln)	4534	MTM1	Uncertain significance	-1	RCV003041266;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149809854	149809854	NC_000023.10:g.149809854G>A	-
NM_000252.3(MTM1):c.646G>A (p.Val216Ile)	4534	MTM1	Uncertain significance	782156492	RCV001945574;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149809859	149809859	149809859	-
NM_000252.3(MTM1):c.664C>A (p.Arg222=)	4534	MTM1	Likely benign	587783847	RCV001462689;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149809877	149809877	149809877	-
NM_000252.3(MTM1):c.678+5G>A	4534	MTM1	Uncertain significance	-1	RCV002975626;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149809896	149809896	NC_000023.10:g.149809896G>A	-
NM_000252.3(MTM1):c.678+6T>A	4534	MTM1	Uncertain significance	2039847628	RCV001058302;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149809897	149809897	X:g.149809897T>A	-
NM_000252.3(MTM1):c.678+7A>G	4534	MTM1	Likely benign	2148488635	RCV002133474;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149809898	149809898	149809898	-
NM_000252.3(MTM1):c.678+9T>C	4534	MTM1	Likely benign	-1	RCV003034399;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149809900	149809900	NC_000023.10:g.149809900T>C	-
NM_000252.3(MTM1):c.678+18C>T	4534	MTM1	Likely benign	-1	RCV002928230;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149809909	149809909	NC_000023.10:g.149809909C>T	-
NM_000252.3(MTM1):c.678+19G>A	4534	MTM1	Likely benign	1215955664	RCV002109668;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149809910	149809910	149809910	-
NM_000252.3(MTM1):c.679-22_679-17del	4534	MTM1	Likely benign	-1	RCV002751121;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149814131	149814136	NC_000023.10:g.149814134_149814139del	-
NM_000252.3(MTM1):c.679-10T>G	4534	MTM1	Likely benign	782314713	RCV001891857;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149814146	149814146	149814146	-
NM_000252.3(MTM1):c.681G>C (p.Val227=)	4534	MTM1	Likely benign	1557413955	RCV001391971;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149814158	149814158	149814158	-
NM_000252.3(MTM1):c.684G>A (p.Leu228=)	4534	MTM1	Likely benign	587783852	RCV001498749;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149814161	149814161	149814161	-
NM_000252.3(MTM1):c.688T>C (p.Trp230Arg)	4534	MTM1	Conflicting interpretations of pathogenicity	398123274	RCV000078436\|RCV000146479;	N	MedGen:C3661900\|MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149814165	149814165	X:g.149814165T>C	ClinGen:CA220541	CN169374 not specified;
NM_000252.3(MTM1):c.700G>C (p.Glu234Gln)	4534	MTM1	Conflicting interpretations of pathogenicity	372053838	RCV000659181\|RCV001419343;	N	MedGen:C3661900\|MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149814177	149814177	X:g.149814177G>C	-	CN517202 not provided;
NM_000252.3(MTM1):c.710C>T (p.Thr237Met)	4534	MTM1	Benign	375590163	RCV002204581;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149814187	149814187	149814187	-
NM_000252.3(MTM1):c.711G>A (p.Thr237=)	4534	MTM1	Likely benign	1162408107	RCV001479106;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149814188	149814188	149814188	-
NM_000252.3(MTM1):c.717T>C (p.Ile239=)	4534	MTM1	Likely benign	2148493140	RCV002080578;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149814194	149814194	149814194	-
NM_000252.3(MTM1):c.720G>A (p.Val240=)	4534	MTM1	Likely benign	2148493142	RCV001472559;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149814197	149814197	149814197	-
NM_000252.3(MTM1):c.726C>T (p.Cys242=)	4534	MTM1	Likely benign	2039919467	RCV001396338;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149814203	149814203	149814203	-
NM_000252.3(MTM1):c.727A>G (p.Ser243Gly)	4534	MTM1	Uncertain significance	2148493156	RCV001892098;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149814204	149814204	149814204	-
NM_000252.3(MTM1):c.734C>T (p.Pro245Leu)	4534	MTM1	Uncertain significance	1557413958	RCV000529682;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149814211	149814211	X:g.149814211C>T	ClinGen:CA415256409	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.741C>T (p.Val247=)	4534	MTM1	Benign	374360983	RCV001514843;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149814218	149814218	149814218	-
NM_000252.3(MTM1):c.742G>A (p.Gly248Ser)	4534	MTM1	Conflicting interpretations of pathogenicity	368335697	RCV000482318\|RCV001404629;	N	MedGen:CN517202\|MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149814219	149814219	X:g.149814219G>A	ClinGen:CA10539155	CN169374 not specified;
NM_000252.3(MTM1):c.745A>G (p.Met249Val)	4534	MTM1	Likely benign	-1	RCV002914882;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149814222	149814222	NC_000023.10:g.149814222A>G	-
NM_000252.3(MTM1):c.753G>A (p.Gly251=)	4534	MTM1	Likely benign	1603192655	RCV001442731;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149814230	149814230	X:g.149814230G>A	-
NM_000252.3(MTM1):c.755A>G (p.Lys252Arg)	4534	MTM1	Benign	782740989	RCV001514809;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149814232	149814232	149814232	-
NM_000252.3(MTM1):c.770A>G (p.Asp257Gly)	4534	MTM1	Uncertain significance	-1	RCV002290051;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149814247	149814247	149814247	-
NM_000252.3(MTM1):c.774G>A (p.Glu258=)	4534	MTM1	Likely benign	2148493209	RCV001407651;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149814251	149814251	149814251	-
NM_000252.3(MTM1):c.783C>T (p.Leu261=)	4534	MTM1	Benign	187394611	RCV001520142;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149814260	149814260	X:g.149814260C>T	-
NM_000252.3(MTM1):c.788T>G (p.Val263Gly)	4534	MTM1	Likely benign	782573475	RCV001247857;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149814265	149814265	X:g.149814265T>G	-
NM_000252.3(MTM1):c.800C>T (p.Thr267Ile)	4534	MTM1	Uncertain significance	-1	RCV003066869;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149814277	149814277	NC_000023.10:g.149814277C>T	-
NM_000252.3(MTM1):c.810A>G (p.Gln270=)	4534	MTM1	Likely benign	782474609	RCV001410521;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149814287	149814287	149814287	-
NM_000252.3(MTM1):c.813T>C (p.Ile271=)	4534	MTM1	Likely benign	1224173755	RCV002169349;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149814290	149814290	149814290	-
NM_000252.3(MTM1):c.816T>G (p.Ser272=)	4534	MTM1	Likely benign	2148493297	RCV001434301;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149814293	149814293	149814293	-
NM_000252.3(MTM1):c.821T>G (p.Leu274Arg)	4534	MTM1	Uncertain significance	2148493317	RCV001923121;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149814298	149814298	149814298	-
NM_000252.3(MTM1):c.825C>T (p.Thr275=)	4534	MTM1	Likely benign	2148493322	RCV001395795;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149814302	149814302	149814302	-
NM_000252.3(MTM1):c.834T>C (p.Asp278=)	4534	MTM1	Likely benign	-1	RCV002870974;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149814311	149814311		-
NM_000252.3(MTM1):c.846C>T (p.Ser282=)	4534	MTM1	Likely benign	375301020	RCV001428307;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149814323	149814323	X:g.149814323C>T	-
NM_000252.3(MTM1):c.867+4A>T	4534	MTM1	Uncertain significance	1322584849	RCV000554580;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149814348	149814348	X:g.149814348A>T	ClinGen:CA645101544	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.867+8G>A	4534	MTM1	Likely benign	782431909	RCV002136030;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149814352	149814352	149814352	-
NM_000252.3(MTM1):c.867+13A>C	4534	MTM1	Benign/Likely benign	368954714	RCV000827363\|RCV002067449;	N	MedGen:C3661900\|MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149814357	149814357	X:g.149814357A>C	-
NM_000252.3(MTM1):c.867+17A>G	4534	MTM1	Benign/Likely benign	371239013	RCV000608943\|RCV002064323;	N	MedGen:CN169374\|MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149814361	149814361	X:g.149814361A>G	ClinGen:CA337092439	CN169374 not specified;
NM_000252.3(MTM1):c.868-9_868-7del	4534	MTM1	Likely benign	2148497680	RCV002177295;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149818176	149818178	149818175	-
NM_000252.3(MTM1):c.868-9G>T	4534	MTM1	Benign	782148583	RCV002199391;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149818180	149818180	149818180	-
NM_000252.3(MTM1):c.868-9del	4534	MTM1	Likely benign	1372652199	RCV002096785;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149818180	149818180	149818179	-
NM_000252.3(MTM1):c.885T>C (p.Tyr295=)	4534	MTM1	Likely benign	1017890631	RCV001949587;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149818206	149818206	149818206	-
NM_000252.3(MTM1):c.898G>A (p.Ala300Thr)	4534	MTM1	Uncertain significance	2148497733	RCV002008244;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149818219	149818219	149818219	-
NM_000252.3(MTM1):c.900A>G (p.Ala300=)	4534	MTM1	Likely benign	-1	RCV002569471;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149818221	149818221		-
NM_000252.3(MTM1):c.905A>G (p.His302Arg)	4534	MTM1	Uncertain significance	2148497756	RCV001884136;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149818226	149818226	149818226	-
NM_000252.3(MTM1):c.909C>T (p.Asn303=)	4534	MTM1	Likely benign	199984259	RCV002121223;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149818230	149818230	149818230	-
NM_000252.3(MTM1):c.911C>T (p.Ala304Val)	4534	MTM1	Uncertain significance	781871854	RCV001222131;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149818232	149818232	X:g.149818232C>T	-
NM_000252.3(MTM1):c.912C>T (p.Ala304=)	4534	MTM1	Likely benign	782504569	RCV001450270;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149818233	149818233	149818233	-
NM_000252.3(MTM1):c.913G>A (p.Glu305Lys)	4534	MTM1	Conflicting interpretations of pathogenicity	587783861	RCV000146488\|RCV002514821;	N	MedGen:CN169374\|MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149818234	149818234	NC_000023.10:g.149818234G>A	ClinGen:CA172607	CN169374 not specified;
NM_000252.3(MTM1):c.913G>C (p.Glu305Gln)	4534	MTM1	Uncertain significance	587783861	RCV001999262;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149818234	149818234	149818234	-
NM_000252.3(MTM1):c.931A>G (p.Ile311Val)	4534	MTM1	Uncertain significance	782444216	RCV001323625;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149818252	149818252	149818252	-
NM_000252.3(MTM1):c.944A>G (p.His315Arg)	4534	MTM1	Uncertain significance	2148497817	RCV002037305;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149818265	149818265	149818265	-
NM_000252.3(MTM1):c.945T>C (p.His315=)	4534	MTM1	Likely benign	376178048	RCV001393309;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149818266	149818266	149818266	-
NM_000252.3(MTM1):c.946G>A (p.Val316Ile)	4534	MTM1	Uncertain significance	2148497828	RCV002001107;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149818267	149818267	149818267	-
NM_000252.3(MTM1):c.952C>T (p.Arg318Trp)	4534	MTM1	Uncertain significance	2039989751	RCV001228323;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149818273	149818273	X:g.149818273C>T	-
NM_000252.3(MTM1):c.954G>C (p.Arg318=)	4534	MTM1	Likely benign	1557414126	RCV000982782;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149818275	149818275	X:g.149818275G>C	-
NM_000252.3(MTM1):c.963A>T (p.Leu321Phe)	4534	MTM1	Uncertain significance	-1	RCV002646173;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149818284	149818284	NC_000023.10:g.149818284A>T	-
NM_000252.3(MTM1):c.989C>T (p.Pro330Leu)	4534	MTM1	Uncertain significance	2148497898	RCV001959409;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149818310	149818310	149818310	-
NM_000252.3(MTM1):c.990T>C (p.Pro330=)	4534	MTM1	Likely benign	-1	RCV003070063;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149818311	149818311		-
NM_000252.3(MTM1):c.999A>G (p.Glu333=)	4534	MTM1	Benign	782302438	RCV001521576;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149818320	149818320	149818320	-
NM_000252.3(MTM1):c.1008T>C (p.His336=)	4534	MTM1	Likely benign	1557414128	RCV001437754;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149818329	149818329	X:g.149818329T>C	-
NM_000252.3(MTM1):c.1052A>G (p.Lys351Arg)	4534	MTM1	Conflicting interpretations of pathogenicity	150430628	RCV000594938\|RCV001079479;	N	MedGen:C3661900\|MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149818373	149818373	X:g.149818373A>G	ClinGen:CA10539196	CN169374 not specified;
NM_000252.3(MTM1):c.1053+5G>T	4534	MTM1	Uncertain significance	1557414132	RCV001253112;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149818379	149818379	X:g.149818379G>T	-
NM_000252.3(MTM1):c.1054-9_1054-6del	4534	MTM1	Benign	782691958	RCV000949144;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149826282	149826285	X:g.149826282_149826285del	-
NM_000252.3(MTM1):c.1056C>T (p.Leu352=)	4534	MTM1	Likely benign	1216921434	RCV001405177;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149826296	149826296	149826296	-
NM_000252.3(MTM1):c.1062G>A (p.Leu354=)	4534	MTM1	Likely benign	1603204575	RCV001480546;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149826302	149826302	X:g.149826302G>A	-
NM_000252.3(MTM1):c.1065A>G (p.Thr355=)	4534	MTM1	Likely benign	1603204585	RCV002540079;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149826305	149826305	X:g.149826305A>G	-
NM_000252.3(MTM1):c.1077A>G (p.Gln359=)	4534	MTM1	Likely benign	1299457466	RCV001479976;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149826317	149826317	149826317	-
NM_000252.3(MTM1):c.1080A>G (p.Val360=)	4534	MTM1	Benign/Likely benign	782202285	RCV001514033\|RCV003434302;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596\|MedGen:C3661900	X	149826320	149826320	149826320	-
NM_000252.3(MTM1):c.1084G>C (p.Asp362His)	4534	MTM1	Uncertain significance	2148508579	RCV001968274;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149826324	149826324	149826324	-
NM_000252.3(MTM1):c.1086C>T (p.Asp362=)	4534	MTM1	Likely benign	2148508590	RCV001449552;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149826326	149826326	149826326	-
NM_000252.3(MTM1):c.1107T>A (p.Ser369Arg)	4534	MTM1	Uncertain significance	2148508637	RCV001757062\|RCV001868460;	N	MedGen:C3661900\|MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149826347	149826347	149826347	-
NM_000252.3(MTM1):c.1119G>A (p.Val373=)	4534	MTM1	Likely benign	941979306	RCV000636901;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149826359	149826359	NC_000023.10:g.149826359G>A	ClinGen:CA337093014	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.1122T>C (p.His374=)	4534	MTM1	Likely benign	2040150089	RCV002209458;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149826362	149826362	149826362	-
NM_000252.3(MTM1):c.1131C>T (p.Asp377=)	4534	MTM1	Likely benign	1557414507	RCV000979016;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149826371	149826371	X:g.149826371C>T	-
NM_000252.3(MTM1):c.1149T>C (p.Ala383=)	4534	MTM1	Likely benign	-1	RCV003071340;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149826389	149826389		-
NM_000252.3(MTM1):c.1153C>T (p.Leu385=)	4534	MTM1	Likely benign	-1	RCV002949640;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149826393	149826393		-
NM_000252.2(MTM1):c.1169T>A (p.Met390Lys)	4534	MTM1	Uncertain significance	727504019	RCV000153517\|RCV001295404;	N	MedGen:C3661900\|MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149826409	149826409	X:g.149826409T>A	ClinGen:CA234282	CN169374 not specified;
NM_000252.3(MTM1):c.1184G>A (p.Ser395Asn)	4534	MTM1	Uncertain significance	2040151430	RCV001051781;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149826424	149826424	X:g.149826424G>A	-
NM_000252.3(MTM1):c.1188C>T (p.Phe396=)	4534	MTM1	Benign	370366538	RCV001512705;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149826428	149826428	149826428	-
NM_000252.3(MTM1):c.1194G>A (p.Arg398=)	4534	MTM1	Likely benign	1557414516	RCV001467220;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149826434	149826434	X:g.149826434G>A	-
NM_000252.3(MTM1):c.1196G>A (p.Ser399Asn)	4534	MTM1	Benign	782295697	RCV002128806;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149826436	149826436	149826436	-
NM_000252.3(MTM1):c.1209C>T (p.Phe403=)	4534	MTM1	Benign	782407568	RCV002127266;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149826449	149826449	149826449	-
NM_000252.3(MTM1):c.1210G>A (p.Glu404Lys)	4534	MTM1	Conflicting interpretations of pathogenicity	781933660	RCV000636898\|RCV002529856;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596\|MONDO:MONDO:0016154,MedGen:C5680828, Orphanet:207110	X	149826450	149826450	NC_000023.10:g.149826450G>A	ClinGen:CA10539219	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.1212A>C (p.Glu404Asp)	4534	MTM1	Uncertain significance	2040152678	RCV001044086;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149826452	149826452	X:g.149826452A>C	-
NM_000252.3(MTM1):c.1213A>G (p.Ile405Val)	4534	MTM1	Benign	373788741	RCV000902548;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149826453	149826453	X:g.149826453A>G	-
NM_000252.3(MTM1):c.1225A>G (p.Lys409Glu)	4534	MTM1	Uncertain significance	1569565526	RCV000781955;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149826465	149826465	NC_000023.10:g.149826465A>G	-
NM_000252.3(MTM1):c.1234A>G (p.Ile412Val)	4534	MTM1	Conflicting interpretations of pathogenicity	587783765	RCV000146386\|RCV003322752;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596\|MedGen:CN517202	X	149826474	149826474	NC_000023.10:g.149826474A>G	ClinGen:CA271757	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.1245A>G (p.Gly415=)	4534	MTM1	Likely benign	2148508923	RCV002203380;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149826485	149826485	149826485	-
NM_000252.3(MTM1):c.1260+3G>A	4534	MTM1	Benign/Likely benign	222410	RCV000078428\|RCV000604124\|RCV002426642;	N	MedGen:CN169374\|MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596\|MeSH:D030342,MedGen:C0950123	X	149826503	149826503	X:g.149826503G>A	ClinGen:CA145920	CN169374 not specified;
NM_000252.3(MTM1):c.1260+5G>A	4534	MTM1	Conflicting interpretations of pathogenicity	587783769	RCV000146390;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149826505	149826505	NC_000023.10:g.149826505G>A	ClinGen:CA271764	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.1260+7A>T	4534	MTM1	Likely benign	782771099	RCV001404287;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149826507	149826507	149826507	-
NM_000252.3(MTM1):c.1260+10C>T	4534	MTM1	Likely benign	-1	RCV003074078;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149826510	149826510	NC_000023.10:g.149826510C>T	-
NM_000252.3(MTM1):c.1260+17A>G	4534	MTM1	Benign	185258809	RCV000242711\|RCV002057325;	N	MedGen:CN169374\|MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149826517	149826517	X:g.149826517A>G	ClinGen:CA10539224	CN169374 not specified;
NM_000252.3(MTM1):c.1261-10A>C	4534	MTM1	Likely benign	-1	RCV003097503;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149828127	149828127	NC_000023.10:g.149828127A>C	-
NM_000252.3(MTM1):c.1261-6A>G	4534	MTM1	Benign	781856399	RCV002170923;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149828131	149828131	149828131	-
NM_000252.3(MTM1):c.1269T>A (p.Gly423=)	4534	MTM1	Likely benign	-1	RCV003009816;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149828145	149828145		-
NM_000252.3(MTM1):c.1290C>T (p.Thr430=)	4534	MTM1	Benign	374725419	RCV000864927;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149828166	149828166	X:g.149828166C>T	-
NM_000252.3(MTM1):c.1300C>T (p.Arg434Cys)	4534	MTM1	Uncertain significance	782664128	RCV001060844;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149828176	149828176	X:g.149828176C>T	-
NM_000252.3(MTM1):c.1302T>C (p.Arg434=)	4534	MTM1	Likely benign	2148510860	RCV001395927;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149828178	149828178	149828178	-
NM_000252.3(MTM1):c.1353G>A (p.Gln451=)	4534	MTM1	Conflicting interpretations of pathogenicity	587783781	RCV000146402;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149828229	149828229	NC_000023.10:g.149828229G>A	ClinGen:CA271787	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.1353+7A>C	4534	MTM1	Likely benign	782203723	RCV002147954;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149828236	149828236	149828236	-
NM_000252.3(MTM1):c.1354-7del	4534	MTM1	Benign	782326353	RCV002148244;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149828833	149828833	149828832	-
NM_000252.3(MTM1):c.1354-6G>A	4534	MTM1	Likely benign	1235590737	RCV001472964;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149828838	149828838	149828838	-
NM_000252.3(MTM1):c.1367T>C (p.Phe456Ser)	4534	MTM1	Conflicting interpretations of pathogenicity	587783783	RCV000146404;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149828857	149828857	NC_000023.10:g.149828857T>C	ClinGen:CA271791	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.1376A>G (p.Asn459Ser)	4534	MTM1	Conflicting interpretations of pathogenicity	587783785	RCV000920576\|RCV001595056\|RCV002540970;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	X	149828866	149828866	X:g.149828866A>G	-
NM_000252.3(MTM1):c.1383A>G (p.Gln461=)	4534	MTM1	Likely benign	782410861	RCV001036755;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149828873	149828873	X:g.149828873A>G	-
NM_000252.3(MTM1):c.1389G>T (p.Leu463Phe)	4534	MTM1	Uncertain significance	-1	RCV003002440;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149828879	149828879	NC_000023.10:g.149828879G>T	-
NM_000252.3(MTM1):c.1392T>C (p.Ile464=)	4534	MTM1	Likely benign	2148511855	RCV001402327;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149828882	149828882	149828882	-
NM_000252.3(MTM1):c.1405C>G (p.His469Asp)	4534	MTM1	Conflicting interpretations of pathogenicity	-1	RCV003065806\|RCV003331427;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596\|MedGen:CN169374	X	149828895	149828895	NC_000023.10:g.149828895C>G	-
NM_000252.3(MTM1):c.1406A>G (p.His469Arg)	4534	MTM1	Conflicting interpretations of pathogenicity	587783789	RCV000146411;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149828896	149828896	NC_000023.10:g.149828896A>G	ClinGen:CA271810	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.1406A>C (p.His469Pro)	4534	MTM1	Uncertain significance	587783789	RCV000636896;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149828896	149828896	NC_000023.10:g.149828896A>C	ClinGen:CA415259694	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.1419C>T (p.Cys473=)	4534	MTM1	Likely benign	-1	RCV003085583;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149828909	149828909		-
NM_000252.3(MTM1):c.1423T>C (p.Phe475Leu)	4534	MTM1	Uncertain significance	-1	RCV002298218;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149828913	149828913	149828913	-
NM_000252.3(MTM1):c.1429A>G (p.Thr477Ala)	4534	MTM1	Uncertain significance	2040200948	RCV001219552;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149828919	149828919	X:g.149828919A>G	-
NM_000252.3(MTM1):c.1449A>G (p.Glu483=)	4534	MTM1	Likely benign	2148511948	RCV002072570;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149828939	149828939	149828939	-
NM_000252.3(MTM1):c.1454C>T (p.Ala485Val)	4534	MTM1	Benign/Likely benign	782137551	RCV000527810\|RCV000605492;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596\|MedGen:CN169374	X	149828944	149828944	X:g.149828944C>T	ClinGen:CA10539261	CN169374 not specified;
NM_000252.3(MTM1):c.1455T>C (p.Ala485=)	4534	MTM1	Benign	141358705	RCV001514423;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149828945	149828945	149828945	-
NM_000252.3(MTM1):c.1457G>A (p.Arg486Gln)	4534	MTM1	Uncertain significance	782032230	RCV001302595;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149828947	149828947	149828947	-
NM_000252.3(MTM1):c.1467+24dup	4534	MTM1	Benign	-1	RCV002696324;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149828973	149828974	NC_000023.10:g.149828981dup	-
NM_000252.3(MTM1):c.1468-21TC[2]	4534	MTM1	Benign	-1	RCV002903168;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149831885	149831888	NC_000023.10:g.149831886CT[2]	-
NM_000252.3(MTM1):c.1468-11TC[2]	4534	MTM1	Likely benign	2148515446	RCV002120945;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149831895	149831896	149831894	-
NM_000252.3(MTM1):c.1468-10C>T	4534	MTM1	Benign/Likely benign	782174623	RCV000606767\|RCV000874769;	N	MedGen:CN169374\|MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149831896	149831896	X:g.149831896C>T	ClinGen:CA10539286	CN169374 not specified;
NM_000252.3(MTM1):c.1468-8C>T	4534	MTM1	Likely benign	1276451236	RCV002208153;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149831898	149831898	149831898	-
NM_000252.3(MTM1):c.1468-5T>C	4534	MTM1	Likely benign	2148515462	RCV001496955;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149831901	149831901	149831901	-
NM_000252.3(MTM1):c.1469A>G (p.Lys490Arg)	4534	MTM1	Uncertain significance	781948606	RCV001529349\|RCV002568163\|RCV003365426;	N	MedGen:C3661900\|MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596\|MeSH:D030342,MedGen:C0950123	X	149831907	149831907	149831907	-
NM_000252.3(MTM1):c.1475C>T (p.Thr492Ile)	4534	MTM1	Uncertain significance	-1	RCV002602305\|RCV003434578;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596\|MedGen:C3661900	X	149831913	149831913	NC_000023.10:g.149831913C>T	-
NM_000252.3(MTM1):c.1485T>A (p.Thr495=)	4534	MTM1	Likely benign	2148515501	RCV002144869;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149831923	149831923	149831923	-
NM_000252.3(MTM1):c.1501C>T (p.Leu501=)	4534	MTM1	Likely benign	2148515532	RCV002128464;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149831939	149831939	149831939	-
NM_000252.3(MTM1):c.1503G>C (p.Leu501=)	4534	MTM1	Likely benign	2148515546	RCV002157535;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149831941	149831941	149831941	-
NM_000252.3(MTM1):c.1509C>T (p.Asn503=)	4534	MTM1	Likely benign	1603208456	RCV001505007;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149831947	149831947	X:g.149831947C>T	-
NM_000252.3(MTM1):c.1518A>G (p.Lys506=)	4534	MTM1	Likely benign	2040257647	RCV001432904;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149831956	149831956	149831956	-
NM_000252.3(MTM1):c.1521A>G (p.Glu507=)	4534	MTM1	Likely benign	2148515589	RCV002073948;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149831959	149831959	149831959	-
NM_000252.3(MTM1):c.1525T>C (p.Phe509Leu)	4534	MTM1	Uncertain significance	2040257723	RCV002014306;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149831963	149831963	149831963	-
NM_000252.3(MTM1):c.1529A>G (p.Lys510Arg)	4534	MTM1	Uncertain significance	2148515610	RCV001989905;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149831967	149831967	149831967	-
NM_000252.3(MTM1):c.1533C>A (p.Asn511Lys)	4534	MTM1	Uncertain significance	1569565536	RCV000785044\|RCV001869169;	N	MONDO:MONDO:0008048,MeSH:D020914,MedGen:C4551952,OMIM:160150, Orphanet:169189\|MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149831971	149831971	X:g.149831971C>A	-
NM_000252.3(MTM1):c.1542T>C (p.Tyr514=)	4534	MTM1	Likely benign	-1	RCV003104320;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149831980	149831980		-
NM_000252.3(MTM1):c.1546A>G (p.Lys516Glu)	4534	MTM1	Uncertain significance	868972342	RCV001918128;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149831984	149831984	149831984	-
NM_000252.3(MTM1):c.1551A>G (p.Glu517=)	4534	MTM1	Likely benign	2040258177	RCV002150970;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149831989	149831989	149831989	-
NM_000252.3(MTM1):c.1558C>A (p.Arg520=)	4534	MTM1	Likely benign	587783805	RCV002087372;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149831996	149831996	149831996	-
NM_000252.3(MTM1):c.1560A>G (p.Arg520=)	4534	MTM1	Likely benign	138946055	RCV001423430;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149831998	149831998	149831998	-
NM_000252.3(MTM1):c.1561G>A (p.Val521Ile)	4534	MTM1	Uncertain significance	782705509	RCV002017834;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149831999	149831999	149831999	-
NM_000252.3(MTM1):c.1566A>G (p.Leu522=)	4534	MTM1	Likely benign	2148515668	RCV002212748;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149832004	149832004	149832004	-
NM_000252.3(MTM1):c.1573G>T (p.Val525Phe)	4534	MTM1	Uncertain significance	-1	RCV003038468;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149832011	149832011	NC_000023.10:g.149832011G>T	-
NM_000252.3(MTM1):c.1578C>T (p.Ala526=)	4534	MTM1	Likely benign	1603208507	RCV000977358;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149832016	149832016	X:g.149832016C>T	-
NM_000252.3(MTM1):c.1591T>C (p.Leu531=)	4534	MTM1	Likely benign	2040258987	RCV001504736;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149832029	149832029	149832029	-
NM_000252.3(MTM1):c.1596A>G (p.Glu532=)	4534	MTM1	Likely benign	-1	RCV003036577;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149832034	149832034		-
NM_000252.3(MTM1):c.1599C>T (p.Leu533=)	4534	MTM1	Likely benign	2148515718	RCV001428706;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149832037	149832037	149832037	-
NM_000252.3(MTM1):c.1604T>A (p.Val535Glu)	4534	MTM1	Uncertain significance	2148515723	RCV001361084;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149832042	149832042	149832042	-
NM_000252.3(MTM1):c.1627C>T (p.Pro543Ser)	4534	MTM1	Uncertain significance	-1	RCV002569845;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149832065	149832065	NC_000023.10:g.149832065C>T	-
NM_000252.3(MTM1):c.1629C>T (p.Pro543=)	4534	MTM1	Likely benign	781856935	RCV001475724;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149832067	149832067	149832067	-
NM_000252.3(MTM1):c.1632G>A (p.Arg544=)	4534	MTM1	Likely benign	-1	RCV002626222;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149832070	149832070		-
NM_000252.3(MTM1):c.1644+19T>G	4534	MTM1	Likely benign	-1	RCV003034097;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149832101	149832101	NC_000023.10:g.149832101T>G	-
NM_000252.3(MTM1):c.1645-14_1645-13del	4534	MTM1	Likely benign	-1	RCV003068993;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149839884	149839885	NC_000023.10:g.149839885CT[1]	-
NC_000023.10:g.(?_149839891)_(149840078_?)del	4534	MTM1	Uncertain significance	-1	RCV001031198;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149839891	149840078	-1	-
NM_000252.3(MTM1):c.1645-8C>T	4534	MTM1	Benign	782348896	RCV001523158;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149839893	149839893	149839893	-
NM_000252.3(MTM1):c.1650G>A (p.Pro550=)	4534	MTM1	Likely benign	2040394486	RCV001496232;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149839906	149839906	149839906	-
NM_000252.3(MTM1):c.1662G>A (p.Glu554=)	4534	MTM1	Likely benign	1603214698	RCV001500663;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149839918	149839918	X:g.149839918G>A	-
NM_000252.3(MTM1):c.1666C>T (p.Arg556Cys)	4534	MTM1	Uncertain significance	1603214706	RCV000817638;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149839922	149839922	X:g.149839922C>T	-
NM_000252.3(MTM1):c.1667G>A (p.Arg556His)	4534	MTM1	Uncertain significance	372735301	RCV000699135\|RCV002534370;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596\|MeSH:D030342,MedGen:C0950123	X	149839923	149839923	X:g.149839923G>A	-	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.1678C>T (p.Leu560Phe)	4534	MTM1	Likely benign	1557415135	RCV002205925;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149839934	149839934	149839934	-
NM_000252.3(MTM1):c.1680C>G (p.Leu560=)	4534	MTM1	Likely benign	-1	RCV002847183;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149839936	149839936		-
NM_000252.3(MTM1):c.1683A>G (p.Leu561=)	4534	MTM1	Likely benign	2148525035	RCV001413234;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149839939	149839939	149839939	-
NM_000252.3(MTM1):c.1692C>T (p.Arg564=)	4534	MTM1	Likely benign	1557415136	RCV000951889;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149839948	149839948	X:g.149839948C>T	-
NM_000252.3(MTM1):c.1695C>T (p.Asp565=)	4534	MTM1	Benign	140744506	RCV001514644;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149839951	149839951	149839951	-
NM_000252.3(MTM1):c.1701C>T (p.Tyr567=)	4534	MTM1	Conflicting interpretations of pathogenicity	587783806	RCV000146430;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149839957	149839957	NC_000023.10:g.149839957C>T	ClinGen:CA271846	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.1702A>G (p.Ile568Val)	4534	MTM1	Benign	587783807	RCV000146431\|RCV000873997;	N	MedGen:CN169374\|MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149839958	149839958	NC_000023.10:g.149839958A>G	ClinGen:CA172597	CN169374 not specified;
NM_000252.3(MTM1):c.1709G>A (p.Arg570Gln)	4534	MTM1	Uncertain significance	782469735	RCV002005039;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149839965	149839965	149839965	-
NM_000252.3(MTM1):c.1713T>C (p.Leu571=)	4534	MTM1	Likely benign	1557415142	RCV001404613;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149839969	149839969	X:g.149839969T>C	ClinGen:CA518858018	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.1719A>G (p.Glu573=)	4534	MTM1	Likely benign	1557415144	RCV002096781;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149839975	149839975	149839975	-
NM_000252.3(MTM1):c.1722G>A (p.Leu574=)	4534	MTM1	Likely benign	781846889	RCV002130746;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149839978	149839978	149839978	-
NM_000252.3(MTM1):c.1724A>G (p.Gln575Arg)	4534	MTM1	Uncertain significance	1347335331	RCV000636895;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149839980	149839980	X:g.149839980A>G	ClinGen:CA415023347	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.1724A>C (p.Gln575Pro)	4534	MTM1	Uncertain significance	1347335331	RCV000686374;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149839980	149839980	X:g.149839980A>C	-	C0410203 310400 Severe X-linked myotubular myopathy;
NM_000252.3(MTM1):c.1728C>T (p.Leu576=)	4534	MTM1	Likely benign	375031903	RCV001414127;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149839984	149839984	149839984	-
NM_000252.3(MTM1):c.1729G>A (p.Ala577Thr)	4534	MTM1	Benign	148195763	RCV000920630;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149839985	149839985	X:g.149839985G>A	-
NM_000252.3(MTM1):c.1733A>C (p.Asn578Thr)	4534	MTM1	Uncertain significance	-1	RCV002843227;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149839989	149839989	NC_000023.10:g.149839989A>C	-
NM_000252.3(MTM1):c.1740C>G (p.Ala580=)	4534	MTM1	Likely benign	782365703	RCV002112427;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149839996	149839996	149839996	-
NM_000252.3(MTM1):c.1753C>G (p.Pro585Ala)	4534	MTM1	Uncertain significance	1195705222	RCV001240082;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149840009	149840009	X:g.149840009C>G	-
NM_000252.3(MTM1):c.1758A>G (p.Pro586=)	4534	MTM1	Likely benign	1454805516	RCV001480582;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149840014	149840014	149840014	-
NM_000252.3(MTM1):c.1759A>G (p.Thr587Ala)	4534	MTM1	Uncertain significance	-1	RCV003060338;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149840015	149840015	NC_000023.10:g.149840015A>G	-
NM_000252.3(MTM1):c.1761T>G (p.Thr587=)	4534	MTM1	Likely benign	2148525231	RCV002088834;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149840017	149840017	149840017	-
NM_000252.3(MTM1):c.1778C>T (p.Ser593Leu)	4534	MTM1	Uncertain significance	-1	RCV003066961;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149840034	149840034	NC_000023.10:g.149840034C>T	-
NM_000252.3(MTM1):c.1779G>A (p.Ser593=)	4534	MTM1	Likely benign	782375296	RCV001497544;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149840035	149840035	149840035	-
NM_000252.3(MTM1):c.1779G>T (p.Ser593=)	4534	MTM1	Likely benign	782375296	RCV001494638;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149840035	149840035	149840035	-
NM_000252.3(MTM1):c.1791C>G (p.Pro597=)	4534	MTM1	Likely benign	-1	RCV003005773;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149840047	149840047		-
NM_000252.3(MTM1):c.1793A>G (p.His598Arg)	4534	MTM1	Benign	201373390	RCV000875386;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149840049	149840049	X:g.149840049A>G	-
NM_000252.3(MTM1):c.1811del (p.Phe603_Ter604insTer)	4534	MTM1	Likely benign	-1	RCV002825327;	N	MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400, Orphanet:596	X	149840067	149840067	NC_000023.10:g.149840067del	-

MSeqDR Portal

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen