MTM1 (myotubularin 1) - Rat Genome Database

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Gene: MTM1 (myotubularin 1) Homo sapiens
Analyze
Symbol: MTM1
Name: myotubularin 1
RGD ID: 1312103
HGNC Page HGNC:7448
Description: Enables intermediate filament binding activity; phosphatase activity; and phosphatidylinositol binding activity. Involved in several processes, including intermediate filament organization; mitochondrion distribution; and phosphatidylinositol dephosphorylation. Located in several cellular components, including filopodium; late endosome; and ruffle. Implicated in congenital structural myopathy.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CNM; CNMX; MTMX; myotubularin; phosphatidylinositol-3,5-bisphosphate 3-phosphatase; phosphatidylinositol-3-phosphate phosphatase; XLMTM
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X150,562,653 - 150,673,143 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX150,568,417 - 150,673,143 (+)EnsemblGRCh38hg38GRCh38
GRCh37X149,737,071 - 149,841,616 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X149,487,727 - 149,592,272 (+)NCBINCBI36Build 36hg18NCBI36
Build 34X149,407,636 - 149,512,182NCBI
CeleraX149,984,899 - 150,089,187 (+)NCBICelera
Cytogenetic MapXq28NCBI
HuRefX138,597,863 - 138,702,094 (+)NCBIHuRef
CHM1_1X149,611,646 - 149,715,992 (+)NCBICHM1_1
T2T-CHM13v2.0X148,830,768 - 148,940,792 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cell projection  (IEA)
cytoplasm  (IBA,IDA,IEA)
cytosol  (IDA,TAS)
endosome  (IEA)
filopodium  (IDA,IEA)
I band  (IEA)
late endosome  (IDA,IEA)
membrane  (IBA,IEA)
plasma membrane  (IDA,IEA)
ruffle  (IDA,IEA)
sarcomere  (IEA)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal facial shape  (IAGP)
Abnormality of neuronal migration  (IAGP)
Abnormality of the eye  (IAGP)
Arachnodactyly  (IAGP)
Areflexia  (IAGP)
Autism  (IAGP)
Bifid scrotum  (IAGP)
Birth length greater than 97th percentile  (IAGP)
Blind vagina  (IAGP)
Caesarian section  (IAGP)
Centrally nucleated skeletal muscle fibers  (IAGP)
Cryptorchidism  (IAGP)
Dandy-Walker malformation  (IAGP)
Decreased fetal movement  (IAGP)
Dental malocclusion  (IAGP)
Diaphragmatic eventration  (IAGP)
Dolichocephaly  (IAGP)
Elevated circulating hepatic transaminase concentration  (IAGP)
External ophthalmoplegia  (IAGP)
Facial palsy  (IAGP)
Fatigable weakness of bulbar muscles  (IAGP)
Fatigable weakness of swallowing muscles  (IAGP)
Feeding difficulties  (IAGP)
Feeding difficulties in infancy  (IAGP)
Flexion contracture  (IAGP)
Generalized hypotonia  (IAGP)
Generalized muscle weakness  (IAGP)
Glandular hypospadias  (IAGP)
Hearing impairment  (IAGP)
High forehead  (IAGP)
High palate  (IAGP)
Hydrocephalus  (IAGP)
Hypokinesia  (IAGP)
Inability to walk  (IAGP)
Joint hypermobility  (IAGP)
Leukoencephalopathy  (IAGP)
Long face  (IAGP)
Low 1-minute APGAR score  (IAGP)
Low 5-minute APGAR score  (IAGP)
Low APGAR score  (IAGP)
Macrocephaly  (IAGP)
Micropenis  (IAGP)
Motor delay  (IAGP)
Myopathy  (IAGP)
Narrow face  (IAGP)
Neck muscle weakness  (IAGP)
Necklace skeletal muscle fibers  (IAGP)
Neonatal hypotonia  (IAGP)
Neonatal respiratory distress  (IAGP)
Penile hypospadias  (IAGP)
Penoscrotal hypospadias  (IAGP)
Pneumonia  (IAGP)
Polyhydramnios  (IAGP)
Poor suck  (IAGP)
Premature birth  (IAGP)
Pyloric stenosis  (IAGP)
Recurrent respiratory infections  (IAGP)
Respiratory distress  (IAGP)
Respiratory failure requiring assisted ventilation  (IAGP)
Respiratory insufficiency  (IAGP)
Retrognathia  (IAGP)
Severe muscular hypotonia  (IAGP)
Slender toe  (IAGP)
Spastic paraplegia  (IAGP)
Thin ribs  (IAGP)
Tube feeding  (IAGP)
Type 1 fibers relatively smaller than type 2 fibers  (IAGP)
Weakness of facial musculature  (IAGP)
X-linked recessive inheritance  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. Laporte J, etal., Nat Genet. 1996 Jun;13(2):175-82.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:1090027   PMID:1822801   PMID:9285787   PMID:9305655   PMID:9450905   PMID:9537414   PMID:9736772   PMID:9781038   PMID:9828128   PMID:9829274   PMID:10063835   PMID:10466421  
PMID:10502779   PMID:10790201   PMID:10900271   PMID:11001925   PMID:11456308   PMID:11552027   PMID:11793470   PMID:11846405   PMID:12031625   PMID:12118066   PMID:12217958   PMID:12391329  
PMID:12477932   PMID:12495846   PMID:12522554   PMID:12646134   PMID:12847286   PMID:12859411   PMID:12925573   PMID:14500759   PMID:14660569   PMID:14722070   PMID:15489334   PMID:15725586  
PMID:15883335   PMID:16964243   PMID:17537630   PMID:17621527   PMID:17827085   PMID:18029348   PMID:18429927   PMID:18774718   PMID:19084976   PMID:19129059   PMID:19846786   PMID:20140253  
PMID:20301605   PMID:20358311   PMID:20434914   PMID:20477815   PMID:20500434   PMID:20562859   PMID:21135508   PMID:21478156   PMID:21488203   PMID:21873635   PMID:22068590   PMID:22101172  
PMID:22403079   PMID:22968136   PMID:23376485   PMID:23818870   PMID:23917616   PMID:25087613   PMID:25659891   PMID:25957634   PMID:26344197   PMID:26760201   PMID:27017278   PMID:27155155  
PMID:27432908   PMID:27880917   PMID:28007904   PMID:28514442   PMID:28675297   PMID:28934386   PMID:29358706   PMID:29987050   PMID:30047259   PMID:30194290   PMID:30232666   PMID:30884204  
PMID:31541013   PMID:32805447   PMID:33961781   PMID:34315543   PMID:34857952   PMID:35177076   PMID:35831314   PMID:35914814   PMID:35944360   PMID:36215168   PMID:37139790  


Genomics

Comparative Map Data
MTM1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X150,562,653 - 150,673,143 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX150,568,417 - 150,673,143 (+)EnsemblGRCh38hg38GRCh38
GRCh37X149,737,071 - 149,841,616 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X149,487,727 - 149,592,272 (+)NCBINCBI36Build 36hg18NCBI36
Build 34X149,407,636 - 149,512,182NCBI
CeleraX149,984,899 - 150,089,187 (+)NCBICelera
Cytogenetic MapXq28NCBI
HuRefX138,597,863 - 138,702,094 (+)NCBIHuRef
CHM1_1X149,611,646 - 149,715,992 (+)NCBICHM1_1
T2T-CHM13v2.0X148,830,768 - 148,940,792 (+)NCBIT2T-CHM13v2.0
Mtm1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X70,254,373 - 70,359,019 (+)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX70,254,373 - 70,359,297 (+)EnsemblGRCm39 Ensembl
GRCm38X71,210,767 - 71,315,413 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX71,210,767 - 71,315,691 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X68,463,942 - 68,568,470 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36X67,475,638 - 67,575,821 (+)NCBIMGSCv36mm8
CeleraX62,185,213 - 62,295,121 (+)NCBICelera
Cytogenetic MapXA7.2- A7.3NCBI
cM MapX36.55NCBI
Mtm1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr866,234,917 - 6,252,874 (-)NCBIGRCr8
mRatBN7.26488,923 - 506,882 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl6488,969 - 506,860 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx6705,298 - 723,228 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.061,014,591 - 1,032,521 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.06538,983 - 556,916 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0618,821,821 - 18,840,449 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl618,821,815 - 18,839,409 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0628,722,724 - 28,736,560 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47247,960 - 265,281 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.17247,959 - 265,280 (+)NCBI
Celera6311,677 - 329,242 (-)NCBICelera
Cytogenetic Map6q11NCBI
Mtm1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554986,329,275 - 6,445,169 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554986,329,402 - 6,444,708 (+)NCBIChiLan1.0ChiLan1.0
MTM1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2X150,706,181 - 150,810,945 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X150,709,793 - 150,814,721 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X140,218,742 - 140,323,495 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X150,174,762 - 150,255,381 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX150,174,758 - 150,255,381 (+)Ensemblpanpan1.1panPan2
MTM1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X118,820,644 - 118,917,166 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX118,820,494 - 118,916,368 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX104,201,980 - 104,298,484 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0X121,040,671 - 121,137,182 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 EnsemblX121,040,544 - 121,137,175 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1X117,766,609 - 117,863,103 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X120,208,871 - 120,297,026 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X120,127,109 - 120,223,642 (+)NCBIUU_Cfam_GSD_1.0
Mtm1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X116,358,970 - 116,463,514 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367141,792,845 - 1,870,389 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367141,792,893 - 1,870,338 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MTM1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX122,286,916 - 122,379,299 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X122,286,904 - 122,379,302 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X139,901,788 - 139,994,207 (+)NCBISscrofa10.2Sscrofa10.2susScr3
MTM1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X125,151,279 - 125,250,816 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 EnsemblX125,174,289 - 125,249,588 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606562,852,091 - 62,955,331 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mtm1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624923952,782 - 1,062,391 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MTM1
597 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|likely pathogenic|conflicting data from submitters
NM_000252.3(MTM1):c.1484C>T (p.Thr495Ile) single nucleotide variant not specified [RCV000518421] ChrX:150663449 [GRCh38]
ChrX:149831922 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.136+9C>T single nucleotide variant Severe X-linked myotubular myopathy [RCV000548653]|not provided [RCV001796102]|not specified [RCV001796751] ChrX:150596579 [GRCh38]
ChrX:149765043 [GRCh37]
ChrX:Xq28		 benign|likely benign
NM_000252.3(MTM1):c.566A>G (p.Asn189Ser) single nucleotide variant Severe X-linked myotubular myopathy [RCV000011802] ChrX:150641306 [GRCh38]
ChrX:149809779 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.1190A>G (p.Tyr397Cys) single nucleotide variant Severe X-linked myotubular myopathy [RCV000011803] ChrX:150657957 [GRCh38]
ChrX:149826430 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.205C>T (p.Arg69Cys) single nucleotide variant Severe X-linked myotubular myopathy [RCV000011804]|not provided [RCV003441713] ChrX:150598660 [GRCh38]
ChrX:149767124 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.679-1G>A single nucleotide variant Severe X-linked myotubular myopathy [RCV000011805] ChrX:150645682 [GRCh38]
ChrX:149814155 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
NM_000252.3(MTM1):c.141_144del deletion MTM1-related disorder [RCV003335026]|Severe X-linked myotubular myopathy [RCV000011806]|not provided [RCV002253197] ChrX:150598594..150598597 [GRCh38]
ChrX:149767058..149767061 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.1261-10A>G single nucleotide variant Severe X-linked myotubular myopathy [RCV000011807]|not provided [RCV000255138] ChrX:150659654 [GRCh38]
ChrX:149828127 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
NM_000252.3(MTM1):c.721C>T (p.Arg241Cys) single nucleotide variant Severe X-linked myotubular myopathy [RCV000011808]|not provided [RCV000725013] ChrX:150645725 [GRCh38]
ChrX:149814198 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.670C>T (p.Arg224Ter) single nucleotide variant Severe X-linked myotubular myopathy [RCV000011809] ChrX:150641410 [GRCh38]
ChrX:149809883 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.605del (p.Leu202fs) deletion Severe X-linked myotubular myopathy [RCV000011810] ChrX:150641342 [GRCh38]
ChrX:149809815 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.469G>A (p.Glu157Lys) single nucleotide variant Severe X-linked myotubular myopathy [RCV000011811] ChrX:150638967 [GRCh38]
ChrX:149807440 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.912C>T (p.Ala304=) single nucleotide variant Severe X-linked myotubular myopathy [RCV001450270] ChrX:150649760 [GRCh38]
ChrX:149818233 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1400del (p.Leu467fs) deletion Generalized hypotonia [RCV001526665] ChrX:150660414 [GRCh38]
ChrX:149828887 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.137-11T>A single nucleotide variant not provided [RCV000521357] ChrX:150598581 [GRCh38]
ChrX:149767045 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.232-7A>G single nucleotide variant Severe X-linked myotubular myopathy [RCV000542548] ChrX:150614582 [GRCh38]
ChrX:149783055 [GRCh37]
ChrX:Xq28		 likely benign
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq28(chrX:150036146-156022206)x3 copy number gain See cases [RCV000050946] ChrX:150036146..156022206 [GRCh38]
ChrX:149298619..155251871 [GRCh37]
ChrX:148955035..154905065 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq28(chrX:149989929-156022206)x3 copy number gain See cases [RCV000050657] ChrX:149989929..156022206 [GRCh38]
ChrX:149158160..155251871 [GRCh37]
ChrX:148908818..154905065 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28		 pathogenic
GRCh38/hg38 Xq27.3-28(chrX:145879711-156022206)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|See cases [RCV000051747] ChrX:145879711..156022206 [GRCh38]
ChrX:146715565..155251871 [GRCh37]
ChrX:144768921..154905065 [NCBI36]
ChrX:Xq27.3-28		 pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28		 pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28		 pathogenic
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28		 pathogenic
GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1 copy number loss See cases [RCV000051729] ChrX:126537861..155996431 [GRCh38]
ChrX:125671844..155226096 [GRCh37]
ChrX:125499525..154879290 [NCBI36]
ChrX:Xq25-28		 pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28		 pathogenic
GRCh38/hg38 Xq26.3-28(chrX:136956500-156020993)x1 copy number loss See cases [RCV000051732] ChrX:136956500..156020993 [GRCh38]
ChrX:136038659..155250658 [GRCh37]
ChrX:135866325..154903852 [NCBI36]
ChrX:Xq26.3-28		 pathogenic
GRCh38/hg38 Xq27.1-28(chrX:139230333-150628474)x1 copy number loss See cases [RCV000051733] ChrX:139230333..150628474 [GRCh38]
ChrX:138312495..149782550 [GRCh37]
ChrX:138140161..149547605 [NCBI36]
ChrX:Xq27.1-28		 pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-155998166)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|See cases [RCV000051746] ChrX:140445228..155998166 [GRCh38]
ChrX:139527393..155227831 [GRCh37]
ChrX:139355059..154881025 [NCBI36]
ChrX:Xq27.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3 copy number gain See cases [RCV000052445] ChrX:123731372..155687381 [GRCh38]
ChrX:122865222..154917042 [GRCh37]
ChrX:122692903..154570236 [NCBI36]
ChrX:Xq25-28		 pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140226495-155687381)x2 copy number gain See cases [RCV000052471] ChrX:140226495..155687381 [GRCh38]
ChrX:139308651..154917042 [GRCh37]
ChrX:139136317..154570236 [NCBI36]
ChrX:Xq27.1-28		 pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-154604471)x2 copy number gain See cases [RCV000052474] ChrX:140445228..154604471 [GRCh38]
ChrX:139527393..153832724 [GRCh37]
ChrX:139355059..153485918 [NCBI36]
ChrX:Xq27.1-28		 pathogenic
GRCh38/hg38 Xq27.1-28(chrX:141160282-155699618)x3 copy number gain See cases [RCV000052475] ChrX:141160282..155699618 [GRCh38]
ChrX:140254480..154929279 [GRCh37]
ChrX:140082146..154582473 [NCBI36]
ChrX:Xq27.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq28(chrX:150449408-150750615)x3 copy number gain See cases [RCV000054287] ChrX:150449408..150750615 [GRCh38]
ChrX:149617674..149782550 [GRCh37]
ChrX:149368332..149669745 [NCBI36]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.1040T>G (p.Leu347Ter) single nucleotide variant Severe X-linked myotubular myopathy [RCV002514377]|not provided [RCV000368501] ChrX:150649888 [GRCh38]
ChrX:149818361 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.1054-5G>C single nucleotide variant Severe X-linked myotubular myopathy [RCV003764754]|not provided [RCV000078426] ChrX:150657816 [GRCh38]
ChrX:149826289 [GRCh37]
ChrX:Xq28		 likely benign|uncertain significance
NM_000252.3(MTM1):c.122A>G (p.Glu41Gly) single nucleotide variant not provided [RCV000078427] ChrX:150596556 [GRCh38]
ChrX:149765020 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.1260+3G>A single nucleotide variant Inborn genetic diseases [RCV002426642]|Severe X-linked myotubular myopathy [RCV000604124]|not specified [RCV000078428] ChrX:150658030 [GRCh38]
ChrX:149826503 [GRCh37]
ChrX:Xq28		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000252.3(MTM1):c.1306_1310dup (p.Phe438fs) duplication not provided [RCV000078429] ChrX:150659707..150659708 [GRCh38]
ChrX:149828180..149828181 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.1357_1358del (p.Pro453fs) deletion not provided [RCV000378438] ChrX:150660373..150660374 [GRCh38]
ChrX:149828846..149828847 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.1369G>A (p.Glu457Lys) single nucleotide variant Severe X-linked myotubular myopathy [RCV003507251]|not provided [RCV000078431] ChrX:150660386 [GRCh38]
ChrX:149828859 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.142_143del (p.Glu48fs) deletion not provided [RCV000311673] ChrX:150598596..150598597 [GRCh38]
ChrX:149767060..149767061 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.1537_1564delinsAACTGGA (p.Phe513_Leu522delinsAsnTrpIle) indel not provided [RCV000723780]|not specified [RCV000503739] ChrX:150663502..150663529 [GRCh38]
ChrX:149831975..149832002 [GRCh37]
ChrX:Xq28		 likely pathogenic|uncertain significance
NM_000252.3(MTM1):c.1644+1G>T single nucleotide variant not provided [RCV000296100] ChrX:150663610 [GRCh38]
ChrX:149832083 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.595_599del (p.Pro199fs) deletion not provided [RCV000293067] ChrX:150641334..150641338 [GRCh38]
ChrX:149809807..149809811 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.688T>C (p.Trp230Arg) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146479]|not provided [RCV000078436] ChrX:150645692 [GRCh38]
ChrX:149814165 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic|uncertain significance
NM_000252.3(MTM1):c.70C>T (p.Arg24Ter) single nucleotide variant Severe X-linked myotubular myopathy [RCV000264401]|not provided [RCV000790686] ChrX:150596504 [GRCh38]
ChrX:149764968 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
NM_000252.3(MTM1):c.509_528dup (p.Gly177fs) duplication not provided [RCV003221457] ChrX:150639003..150639004 [GRCh38]
ChrX:149807476..149807477 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq27.1-28(chrX:139333024-155978689)x1 copy number loss See cases [RCV000133818] ChrX:139333024..155978689 [GRCh38]
ChrX:138415183..155208354 [GRCh37]
ChrX:138242849..154861548 [NCBI36]
ChrX:Xq27.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
NM_000252.3(MTM1):c.549G>A (p.Trp183Ter) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146459] ChrX:150641289 [GRCh38]
ChrX:149809762 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.550A>G (p.Arg184Gly) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146460] ChrX:150641290 [GRCh38]
ChrX:149809763 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.557C>T (p.Thr186Ile) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146461]|not provided [RCV003226903] ChrX:150641297 [GRCh38]
ChrX:149809770 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
NM_000252.3(MTM1):c.561T>C (p.Phe187=) single nucleotide variant not specified [RCV000146462] ChrX:150641301 [GRCh38]
ChrX:149809774 [GRCh37]
ChrX:Xq28		 benign
NM_000252.3(MTM1):c.575A>G (p.Tyr192Cys) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146463]|not provided [RCV003329244] ChrX:150641315 [GRCh38]
ChrX:149809788 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000252.3(MTM1):c.591_594del (p.Tyr198fs) deletion Severe X-linked myotubular myopathy [RCV000146464] ChrX:150641329..150641332 [GRCh38]
ChrX:149809802..149809805 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.611T>G (p.Val204Gly) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146465] ChrX:150641351 [GRCh38]
ChrX:149809824 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.614C>T (p.Pro205Leu) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146466]|not provided [RCV001564887] ChrX:150641354 [GRCh38]
ChrX:149809827 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
NM_000252.3(MTM1):c.629A>G (p.Asp210Gly) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146467] ChrX:150641369 [GRCh38]
ChrX:149809842 [GRCh37]
ChrX:Xq28		 pathogenic|conflicting interpretations of pathogenicity
NM_000252.3(MTM1):c.63+1G>A single nucleotide variant Severe X-linked myotubular myopathy [RCV000146468] ChrX:150592678 [GRCh38]
ChrX:149761140 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.63+3A>T single nucleotide variant Severe X-linked myotubular myopathy [RCV000146469] ChrX:150592680 [GRCh38]
ChrX:149761142 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000252.3(MTM1):c.637C>T (p.Leu213Phe) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146470] ChrX:150641377 [GRCh38]
ChrX:149809850 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.64-14T>C single nucleotide variant Severe X-linked myotubular myopathy [RCV002055905]|not specified [RCV000146471] ChrX:150596484 [GRCh38]
ChrX:149764948 [GRCh37]
ChrX:Xq28		 benign
NM_000252.3(MTM1):c.64-1G>A single nucleotide variant Severe X-linked myotubular myopathy [RCV000146472] ChrX:150596497 [GRCh38]
ChrX:149764961 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.664C>T (p.Arg222Ter) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146473] ChrX:150641404 [GRCh38]
ChrX:149809877 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.676C>A (p.Pro226Thr) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146474] ChrX:150641416 [GRCh38]
ChrX:149809889 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000252.3(MTM1):c.678+1G>A single nucleotide variant Severe X-linked myotubular myopathy [RCV000146475] ChrX:150641419 [GRCh38]
ChrX:149809892 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.679G>A (p.Val227Met) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146476] ChrX:150645683 [GRCh38]
ChrX:149814156 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
NM_000252.3(MTM1):c.683T>C (p.Leu228Pro) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146477] ChrX:150645687 [GRCh38]
ChrX:149814160 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.684G>C (p.Leu228=) single nucleotide variant not specified [RCV000146478] ChrX:150645688 [GRCh38]
ChrX:149814161 [GRCh37]
ChrX:Xq28		 benign
NM_000252.3(MTM1):c.743G>T (p.Gly248Val) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146480] ChrX:150645747 [GRCh38]
ChrX:149814220 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000252.3(MTM1):c.757C>T (p.Arg253Ter) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146481]|not provided [RCV000578589] ChrX:150645761 [GRCh38]
ChrX:149814234 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.779A>C (p.Tyr260Ser) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146482] ChrX:150645783 [GRCh38]
ChrX:149814256 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.791T>G (p.Ile264Ser) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146483] ChrX:150645795 [GRCh38]
ChrX:149814268 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.85C>T (p.Arg29Ter) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146484] ChrX:150596519 [GRCh38]
ChrX:149764983 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.867+1G>A single nucleotide variant Severe X-linked myotubular myopathy [RCV000146485] ChrX:150645872 [GRCh38]
ChrX:149814345 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.888_889del (p.Glu296_Ser297insTer) deletion Severe X-linked myotubular myopathy [RCV000146486] ChrX:150649735..150649736 [GRCh38]
ChrX:149818208..149818209 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.912del (p.Glu305fs) deletion Severe X-linked myotubular myopathy [RCV000146487] ChrX:150649759 [GRCh38]
ChrX:149818232 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.913G>A (p.Glu305Lys) single nucleotide variant Severe X-linked myotubular myopathy [RCV002514821]|not specified [RCV000146488] ChrX:150649761 [GRCh38]
ChrX:149818234 [GRCh37]
ChrX:Xq28		 benign|uncertain significance
NM_000252.3(MTM1):c.921CTT[1] (p.Phe308del) microsatellite Severe X-linked myotubular myopathy [RCV000146489] ChrX:150649767..150649769 [GRCh38]
ChrX:149818240..149818242 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000252.3(MTM1):c.958T>C (p.Ser320Pro) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146490] ChrX:150649806 [GRCh38]
ChrX:149818279 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.961_962del (p.Leu321fs) deletion Severe X-linked myotubular myopathy [RCV000146491] ChrX:150649808..150649809 [GRCh38]
ChrX:149818281..149818282 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.969del (p.Lys323_Val324insTer) deletion Severe X-linked myotubular myopathy [RCV000146492]|not provided [RCV001311408] ChrX:150649811 [GRCh38]
ChrX:149818284 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq27.3-28(chrX:144627217-155434735)x3 copy number gain See cases [RCV000133725] ChrX:144627217..155434735 [GRCh38]
ChrX:146715565..154664396 [GRCh37]
ChrX:143516380..154317590 [NCBI36]
ChrX:Xq27.3-28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
NM_000252.3(MTM1):c.1036T>C (p.Trp346Arg) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146371] ChrX:150649884 [GRCh38]
ChrX:149818357 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000252.3(MTM1):c.1053+1G>C single nucleotide variant Severe X-linked myotubular myopathy [RCV000146372] ChrX:150649902 [GRCh38]
ChrX:149818375 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.1088_1089del (p.Lys363fs) deletion Severe X-linked myotubular myopathy [RCV000146373]|not provided [RCV000724985] ChrX:150657854..150657855 [GRCh38]
ChrX:149826327..149826328 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.109C>T (p.Arg37Ter) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146374]|not provided [RCV000579109] ChrX:150596543 [GRCh38]
ChrX:149765007 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.1120C>G (p.His374Asp) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146375] ChrX:150657887 [GRCh38]
ChrX:149826360 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.1132G>A (p.Gly378Arg) single nucleotide variant Inborn genetic diseases [RCV001266066]|Severe X-linked myotubular myopathy [RCV000146376] ChrX:150657899 [GRCh38]
ChrX:149826372 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
NM_000252.3(MTM1):c.1136G>A (p.Trp379Ter) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146377] ChrX:150657903 [GRCh38]
ChrX:149826376 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.1137G>A (p.Trp379Ter) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146378] ChrX:150657904 [GRCh38]
ChrX:149826377 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.1139A>T (p.Asp380Val) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146379] ChrX:150657906 [GRCh38]
ChrX:149826379 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.1160C>A (p.Ser387Tyr) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146380] ChrX:150657927 [GRCh38]
ChrX:149826400 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.1180G>C (p.Asp394His) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146381] ChrX:150657947 [GRCh38]
ChrX:149826420 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000252.3(MTM1):c.1191T>G (p.Tyr397Ter) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146382] ChrX:150657958 [GRCh38]
ChrX:149826431 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.1205G>C (p.Gly402Ala) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146383] ChrX:150657972 [GRCh38]
ChrX:149826445 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.1232G>A (p.Trp411Ter) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146384] ChrX:150657999 [GRCh38]
ChrX:149826472 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.1233G>T (p.Trp411Cys) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146385] ChrX:150658000 [GRCh38]
ChrX:149826473 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000252.3(MTM1):c.1234A>G (p.Ile412Val) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146386]|not provided [RCV003322752] ChrX:150658001 [GRCh38]
ChrX:149826474 [GRCh37]
ChrX:Xq28		 likely pathogenic|uncertain significance
NM_000252.3(MTM1):c.1244G>A (p.Gly415Glu) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146387]|not provided [RCV001582610] ChrX:150658011 [GRCh38]
ChrX:149826484 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
NM_000252.3(MTM1):c.1254T>C (p.Phe418=) single nucleotide variant not specified [RCV000146388] ChrX:150658021 [GRCh38]
ChrX:149826494 [GRCh37]
ChrX:Xq28		 benign
NM_000252.3(MTM1):c.1260+1G>A single nucleotide variant Severe X-linked myotubular myopathy [RCV000146389] ChrX:150658028 [GRCh38]
ChrX:149826501 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.1260+5G>A single nucleotide variant Severe X-linked myotubular myopathy [RCV000146390] ChrX:150658032 [GRCh38]
ChrX:149826505 [GRCh37]
ChrX:Xq28		 likely pathogenic|conflicting interpretations of pathogenicity
NM_000252.3(MTM1):c.1261-1G>C single nucleotide variant Severe X-linked myotubular myopathy [RCV000146391] ChrX:150659663 [GRCh38]
ChrX:149828136 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.1261C>T (p.Arg421Ter) single nucleotide variant Neurodevelopmental disorder [RCV003389044]|Severe X-linked myotubular myopathy [RCV000146392]|not provided [RCV000724986] ChrX:150659664 [GRCh38]
ChrX:149828137 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.1262G>A (p.Arg421Gln) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146393]|Spastic paraplegia [RCV001257576]|not provided [RCV000428593] ChrX:150659665 [GRCh38]
ChrX:149828138 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.1283_1286del (p.Asn428fs) deletion Severe X-linked myotubular myopathy [RCV000146394] ChrX:150659685..150659688 [GRCh38]
ChrX:149828158..149828161 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.1307C>T (p.Pro436Leu) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146395] ChrX:150659710 [GRCh38]
ChrX:149828183 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000252.3(MTM1):c.1307del (p.Pro436fs) deletion Severe X-linked myotubular myopathy [RCV000146396] ChrX:150659709 [GRCh38]
ChrX:149828182 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.1325T>A (p.Ile442Asn) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146397] ChrX:150659728 [GRCh38]
ChrX:149828201 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000252.3(MTM1):c.1328A>C (p.Asp443Ala) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146398] ChrX:150659731 [GRCh38]
ChrX:149828204 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000252.3(MTM1):c.1337G>A (p.Trp446Ter) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146399] ChrX:150659740 [GRCh38]
ChrX:149828213 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.1353+1G>A single nucleotide variant Severe X-linked myotubular myopathy [RCV000146400] ChrX:150659757 [GRCh38]
ChrX:149828230 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.1353+2T>C single nucleotide variant Severe X-linked myotubular myopathy [RCV000146401] ChrX:150659758 [GRCh38]
ChrX:149828231 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.1353G>A (p.Gln451=) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146402] ChrX:150659756 [GRCh38]
ChrX:149828229 [GRCh37]
ChrX:Xq28		 conflicting interpretations of pathogenicity|uncertain significance
NM_000252.3(MTM1):c.1354-1G>A single nucleotide variant Severe X-linked myotubular myopathy [RCV000146403] ChrX:150660370 [GRCh38]
ChrX:149828843 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.1367T>C (p.Phe456Ser) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146404] ChrX:150660384 [GRCh38]
ChrX:149828857 [GRCh37]
ChrX:Xq28		 pathogenic|conflicting interpretations of pathogenicity
NM_000252.3(MTM1):c.137-7T>G single nucleotide variant Severe X-linked myotubular myopathy [RCV000146405] ChrX:150598585 [GRCh38]
ChrX:149767049 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.1376A>T (p.Asn459Ile) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146406] ChrX:150660393 [GRCh38]
ChrX:149828866 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.1378G>T (p.Glu460Ter) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146407] ChrX:150660395 [GRCh38]
ChrX:149828868 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.1388T>C (p.Leu463Ser) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146408] ChrX:150660405 [GRCh38]
ChrX:149828878 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000252.3(MTM1):c.1388T>G (p.Leu463Trp) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146409] ChrX:150660405 [GRCh38]
ChrX:149828878 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000252.3(MTM1):c.139_141del (p.Lys47del) deletion Severe X-linked myotubular myopathy [RCV000146410] ChrX:150598594..150598596 [GRCh38]
ChrX:149767058..149767060 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.1406A>G (p.His469Arg) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146411] ChrX:150660423 [GRCh38]
ChrX:149828896 [GRCh37]
ChrX:Xq28		 pathogenic|conflicting interpretations of pathogenicity
NM_000252.3(MTM1):c.141A>G (p.Lys47=) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146412] ChrX:150598596 [GRCh38]
ChrX:149767060 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.2(MTM1):c.141_144delAGAA (p.Glu48Leufs) deletion Severe X-linked myotubular myopathy [RCV000146413] ChrX:150598596..150598599 [GRCh38]
ChrX:149767060 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.1420C>T (p.Arg474Ter) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146414]|not provided [RCV000523062] ChrX:150660437 [GRCh38]
ChrX:149828910 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.1427G>T (p.Gly476Val) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146415] ChrX:150660444 [GRCh38]
ChrX:149828917 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.1433T>C (p.Phe478Ser) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146416] ChrX:150660450 [GRCh38]
ChrX:149828923 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.1456C>T (p.Arg486Ter) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146417] ChrX:150660473 [GRCh38]
ChrX:149828946 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.145G>A (p.Val49Ile) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146418] ChrX:150598600 [GRCh38]
ChrX:149767064 [GRCh37]
ChrX:Xq28		 pathogenic|conflicting interpretations of pathogenicity
NM_000252.3(MTM1):c.145G>T (p.Val49Phe) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146419] ChrX:150598600 [GRCh38]
ChrX:149767064 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.1465_1468del (p.Gln489fs) deletion Severe X-linked myotubular myopathy [RCV000146420]|not provided [RCV001549673] ChrX:150660479..150660482 [GRCh38]
ChrX:149828952..149828955 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
NM_000252.3(MTM1):c.1467+1G>A single nucleotide variant Severe X-linked myotubular myopathy [RCV000146421] ChrX:150660485 [GRCh38]
ChrX:149828958 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.1467+1G>T single nucleotide variant Severe X-linked myotubular myopathy [RCV000146422] ChrX:150660485 [GRCh38]
ChrX:149828958 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.1467+2T>A single nucleotide variant Severe X-linked myotubular myopathy [RCV000146423] ChrX:150660486 [GRCh38]
ChrX:149828959 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.1490C>A (p.Ser497Tyr) single nucleotide variant not specified [RCV000146424] ChrX:150663455 [GRCh38]
ChrX:149831928 [GRCh37]
ChrX:Xq28		 likely pathogenic|uncertain significance
NM_000252.3(MTM1):c.1495T>C (p.Trp499Arg) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146425] ChrX:150663460 [GRCh38]
ChrX:149831933 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.1509del (p.Asn503fs) deletion Severe X-linked myotubular myopathy [RCV000146426]|not provided [RCV002247538] ChrX:150663474 [GRCh38]
ChrX:149831947 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
NM_000252.3(MTM1):c.153_156del (p.Ile52fs) deletion Severe X-linked myotubular myopathy [RCV000146427] ChrX:150598606..150598609 [GRCh38]
ChrX:149767070..149767073 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.154del (p.Ile52fs) deletion Severe X-linked myotubular myopathy [RCV000146428] ChrX:150598609 [GRCh38]
ChrX:149767073 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.1558C>T (p.Arg520Ter) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146429]|not provided [RCV003488399] ChrX:150663523 [GRCh38]
ChrX:149831996 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.1701C>T (p.Tyr567=) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146430] ChrX:150671484 [GRCh38]
ChrX:149839957 [GRCh37]
ChrX:Xq28		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000252.3(MTM1):c.1702A>G (p.Ile568Val) single nucleotide variant Severe X-linked myotubular myopathy [RCV000873997]|not specified [RCV000146431] ChrX:150671485 [GRCh38]
ChrX:149839958 [GRCh37]
ChrX:Xq28		 benign
NM_000252.3(MTM1):c.1792del (p.His598fs) deletion Severe X-linked myotubular myopathy [RCV000146432] ChrX:150671572 [GRCh38]
ChrX:149840045 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.205C>G (p.Arg69Gly) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146433] ChrX:150598660 [GRCh38]
ChrX:149767124 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.208C>T (p.Leu70Phe) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146434] ChrX:150598663 [GRCh38]
ChrX:149767127 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.231+1G>A single nucleotide variant Severe X-linked myotubular myopathy [RCV000146435]|not provided [RCV000254869] ChrX:150598687 [GRCh38]
ChrX:149767151 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.231+2T>G single nucleotide variant Severe X-linked myotubular myopathy [RCV000146436] ChrX:150598688 [GRCh38]
ChrX:149767152 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.232-1G>A single nucleotide variant Severe X-linked myotubular myopathy [RCV000146437] ChrX:150614588 [GRCh38]
ChrX:149783061 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.232-2A>C single nucleotide variant Severe X-linked myotubular myopathy [RCV000146438] ChrX:150614587 [GRCh38]
ChrX:149783060 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.232-3C>A single nucleotide variant Severe X-linked myotubular myopathy [RCV000146439] ChrX:150614586 [GRCh38]
ChrX:149783059 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.252del (p.Asp84fs) deletion Severe X-linked myotubular myopathy [RCV000146440] ChrX:150614609 [GRCh38]
ChrX:149783082 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.260T>C (p.Leu87Pro) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146441] ChrX:150614617 [GRCh38]
ChrX:149783090 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.2T>G (p.Met1Arg) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146442] ChrX:150592616 [GRCh38]
ChrX:149761078 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.301A>G (p.Ser101Gly) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146443] ChrX:150614658 [GRCh38]
ChrX:149783131 [GRCh37]
ChrX:Xq28		 pathogenic|conflicting interpretations of pathogenicity
NM_000252.3(MTM1):c.340A>T (p.Lys114Ter) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146444] ChrX:150614697 [GRCh38]
ChrX:149783170 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.342+4A>G single nucleotide variant Severe X-linked myotubular myopathy [RCV000146445] ChrX:150614703 [GRCh38]
ChrX:149783176 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000252.3(MTM1):c.343-2A>G single nucleotide variant Severe X-linked myotubular myopathy [RCV000146446] ChrX:150619036 [GRCh38]
ChrX:149787509 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.397_398del (p.Met133fs) microsatellite Severe X-linked myotubular myopathy [RCV000146447] ChrX:150619090..150619091 [GRCh38]
ChrX:149787563..149787564 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.3G>A (p.Met1Ile) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146448] ChrX:150592617 [GRCh38]
ChrX:149761079 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.402del (p.Phe134fs) deletion Severe X-linked myotubular myopathy [RCV000146449] ChrX:150619095 [GRCh38]
ChrX:149787568 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.420C>G (p.Tyr140Ter) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146450] ChrX:150619115 [GRCh38]
ChrX:149787588 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.431del (p.Leu144fs) deletion Severe X-linked myotubular myopathy [RCV000146451] ChrX:150619126 [GRCh38]
ChrX:149787599 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.469del (p.Glu157fs) deletion Severe X-linked myotubular myopathy [RCV000146452] ChrX:150638967 [GRCh38]
ChrX:149807440 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.514G>T (p.Glu172Ter) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146453] ChrX:150639012 [GRCh38]
ChrX:149807485 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.526C>A (p.Gln176Lys) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146454] ChrX:150639024 [GRCh38]
ChrX:149807497 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.528+1G>T single nucleotide variant Severe X-linked myotubular myopathy [RCV000146455] ChrX:150639027 [GRCh38]
ChrX:149807500 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.529-2A>G single nucleotide variant Severe X-linked myotubular myopathy [RCV000146456] ChrX:150641267 [GRCh38]
ChrX:149809740 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.535C>T (p.Pro179Ser) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146457] ChrX:150641275 [GRCh38]
ChrX:149809748 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.539_545del (p.Asn180fs) deletion Severe X-linked myotubular myopathy [RCV000146458] ChrX:150641276..150641282 [GRCh38]
ChrX:149809749..149809755 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28		 pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28		 pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28		 pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28		 pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3 copy number gain See cases [RCV000136030] ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq25-28(chrX:128473235-156003229)x1 copy number loss See cases [RCV000136095] ChrX:128473235..156003229 [GRCh38]
ChrX:127607213..155232894 [GRCh37]
ChrX:127434894..154886088 [NCBI36]
ChrX:Xq25-28		 pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140783390-155611114)x2 copy number gain See cases [RCV000135881] ChrX:140783390..155611114 [GRCh38]
ChrX:139865555..154785891 [GRCh37]
ChrX:139693221..154493969 [NCBI36]
ChrX:Xq27.1-28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xq27.2-28(chrX:141650284-156022206)x1 copy number loss See cases [RCV000136912] ChrX:141650284..156022206 [GRCh38]
ChrX:140738414..155251871 [GRCh37]
ChrX:140566080..154905065 [NCBI36]
ChrX:Xq27.2-28		 pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28		 pathogenic
GRCh38/hg38 Xq28(chrX:150478215-150568021)x0 copy number loss See cases [RCV000137117] ChrX:150478215..150568021 [GRCh38]
ChrX:149646489..149736471 [GRCh37]
ChrX:149397147..149487129 [NCBI36]
ChrX:Xq28		 uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq28(chrX:150218455-150676035)x2 copy number gain See cases [RCV000137574] ChrX:150218455..150676035 [GRCh38]
ChrX:149137343..149595166 [NCBI36]
ChrX:Xq28		 uncertain significance
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28		 pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28		 pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28		 pathogenic
GRCh38/hg38 Xq26.3-28(chrX:137118983-156003242)x1 copy number loss See cases [RCV000137257] ChrX:137118983..156003242 [GRCh38]
ChrX:136201142..155232907 [GRCh37]
ChrX:136028808..154886101 [NCBI36]
ChrX:Xq26.3-28		 pathogenic|uncertain significance
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 copy number loss See cases [RCV000137167] ChrX:123793526..156022206 [GRCh38]
ChrX:122927376..155251871 [GRCh37]
ChrX:122755057..154905065 [NCBI36]
ChrX:Xq25-28		 pathogenic|uncertain significance
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28		 pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28		 pathogenic
GRCh38/hg38 Xq27.3-28(chrX:143553831-156003229)x1 copy number loss See cases [RCV000138679] ChrX:143553831..156003229 [GRCh38]
ChrX:142641674..155232894 [GRCh37]
ChrX:142469340..154886088 [NCBI36]
ChrX:Xq27.3-28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28		 pathogenic|likely benign
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28		 pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq27.1-28(chrX:139530928-156003229)x1 copy number loss See cases [RCV000139724] ChrX:139530928..156003229 [GRCh38]
ChrX:138613087..155232894 [GRCh37]
ChrX:138440753..154886088 [NCBI36]
ChrX:Xq27.1-28		 pathogenic
GRCh38/hg38 Xq28(chrX:150574214-150838596)x2 copy number gain See cases [RCV000141404] ChrX:150574214..150838596 [GRCh38]
ChrX:149742664..150007069 [GRCh37]
ChrX:149493322..149757727 [NCBI36]
ChrX:Xq28		 uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28		 pathogenic
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 copy number loss See cases [RCV000141743] ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 copy number loss See cases [RCV000142137] ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28		 pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28		 pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28		 pathogenic
GRCh38/hg38 Xq28(chrX:148951460-155434653)x2 copy number gain See cases [RCV000143002] ChrX:148951460..155434653 [GRCh38]
ChrX:148956425..154664314 [GRCh37]
ChrX:147840690..154317508 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28		 pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
NM_000252.2(MTM1):c.1169T>A (p.Met390Lys) single nucleotide variant Severe X-linked myotubular myopathy [RCV001295404]|not provided [RCV000153517] ChrX:150657936 [GRCh38]
ChrX:149826409 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.1415_1416del (p.Ser472fs) deletion not provided [RCV000388294] ChrX:150660432..150660433 [GRCh38]
ChrX:149828905..149828906 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.1644+3_1644+6del microsatellite not provided [RCV000174668] ChrX:150663608..150663611 [GRCh38]
ChrX:149832081..149832084 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.49G>T (p.Glu17Ter) single nucleotide variant not provided [RCV000254935] ChrX:150592663 [GRCh38]
ChrX:149761125 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
NM_000252.3(MTM1):c.949dup (p.Met317fs) duplication Severe X-linked myotubular myopathy [RCV000195241]|not provided [RCV003488447] ChrX:150649796..150649797 [GRCh38]
ChrX:149818269..149818270 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.1349_1353+4del deletion Severe X-linked myotubular myopathy [RCV000192959] ChrX:150659750..150659758 [GRCh38]
ChrX:149828223..149828231 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.422C>T (p.Ala141Val) single nucleotide variant Inborn genetic diseases [RCV002517954]|Severe X-linked myotubular myopathy [RCV000552763]|not provided [RCV003430746]|not specified [RCV000194154] ChrX:150619117 [GRCh38]
ChrX:149787590 [GRCh37]
ChrX:Xq28		 benign|likely benign|uncertain significance
NM_000252.3(MTM1):c.1306_1308del (p.Pro436del) deletion Severe X-linked myotubular myopathy [RCV000193932] ChrX:150659707..150659709 [GRCh38]
ChrX:149828180..149828182 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.867_867+1dup duplication Severe X-linked myotubular myopathy [RCV000194416] ChrX:150645870..150645871 [GRCh38]
ChrX:149814343..149814344 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.342_342+4del deletion Severe X-linked myotubular myopathy [RCV000195024]|not provided [RCV000256076] ChrX:150614695..150614699 [GRCh38]
ChrX:149783168..149783172 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.1015dup (p.Ser339fs) duplication Severe X-linked myotubular myopathy [RCV000192362] ChrX:150649862..150649863 [GRCh38]
ChrX:149818335..149818336 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
NM_000252.3(MTM1):c.1283del (p.Asn428fs) deletion Severe X-linked myotubular myopathy [RCV000192715] ChrX:150659682 [GRCh38]
ChrX:149828155 [GRCh37]
ChrX:Xq28		 pathogenic|uncertain significance
NM_000252.3(MTM1):c.419dup (p.Tyr140Ter) duplication Severe X-linked myotubular myopathy [RCV000192943] ChrX:150619113..150619114 [GRCh38]
ChrX:149787586..149787587 [GRCh37]
ChrX:Xq28		 pathogenic|uncertain significance
NM_000252.3(MTM1):c.969dup (p.Val324fs) duplication Severe X-linked myotubular myopathy [RCV000193112]|not provided [RCV002503755] ChrX:150649810..150649811 [GRCh38]
ChrX:149818283..149818284 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.808_811del (p.Gln270fs) deletion Severe X-linked myotubular myopathy [RCV000193231] ChrX:150645809..150645812 [GRCh38]
ChrX:149814282..149814285 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.1089dup (p.Val364fs) duplication Centronuclear myopathy [RCV000583249]|Severe X-linked myotubular myopathy [RCV000193627] ChrX:150657853..150657854 [GRCh38]
ChrX:149826326..149826327 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.137-11dup duplication Severe X-linked myotubular myopathy [RCV003507264]|not specified [RCV000193815] ChrX:150598574..150598575 [GRCh38]
ChrX:149767038..149767039 [GRCh37]
ChrX:Xq28		 benign|likely benign
NM_000252.3(MTM1):c.96dup (p.Glu33Ter) duplication Severe X-linked myotubular myopathy [RCV000194336] ChrX:150596529..150596530 [GRCh38]
ChrX:149764993..149764994 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.130dup (p.Ile44fs) duplication Severe X-linked myotubular myopathy [RCV000194745] ChrX:150596562..150596563 [GRCh38]
ChrX:149765026..149765027 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.2(MTM1):c.1227_1228delinsT (p.Lys409fs) indel Severe X-linked myotubular myopathy [RCV000194855] ChrX:150657994..150657995 [GRCh38]
ChrX:149826467..149826468 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.549dup (p.Arg184fs) duplication Severe X-linked myotubular myopathy [RCV000195004] ChrX:150641287..150641288 [GRCh38]
ChrX:149809760..149809761 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
NM_000252.3(MTM1):c.867+4A>T single nucleotide variant Severe X-linked myotubular myopathy [RCV000554580] ChrX:150645875 [GRCh38]
ChrX:149814348 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.564TAA[1] (p.Asn189del) microsatellite not provided [RCV000224134] ChrX:150641304..150641306 [GRCh38]
ChrX:149809777..149809779 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.137-3T>G single nucleotide variant not provided [RCV000224583] ChrX:150598589 [GRCh38]
ChrX:149767053 [GRCh37]
ChrX:Xq28		 likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq27.3-28(chrX:142174780-155250222)x2 copy number gain See cases [RCV000240530] ChrX:142174780..155250222 [GRCh37]
ChrX:Xq27.3-28		 pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1 copy number loss See cases [RCV000240337] ChrX:121022022..155211482 [GRCh37]
ChrX:Xq25-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_000252.3(MTM1):c.1260+17A>G single nucleotide variant Severe X-linked myotubular myopathy [RCV002057325]|not specified [RCV000242711] ChrX:150658044 [GRCh38]
ChrX:149826517 [GRCh37]
ChrX:Xq28		 benign
NM_000252.3(MTM1):c.593dup (p.Tyr198Ter) duplication not provided [RCV000318520] ChrX:150641332..150641333 [GRCh38]
ChrX:149809805..149809806 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.339T>C (p.Cys113=) single nucleotide variant MTM1-related condition [RCV003947888]|Severe X-linked myotubular myopathy [RCV000636899]|not provided [RCV001764249]|not specified [RCV000354524] ChrX:150614696 [GRCh38]
ChrX:149783169 [GRCh37]
ChrX:Xq28		 benign|likely benign
NM_000252.3(MTM1):c.1611C>A (p.Tyr537Ter) single nucleotide variant not provided [RCV000397753] ChrX:150663576 [GRCh38]
ChrX:149832049 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.226G>T (p.Glu76Ter) single nucleotide variant Severe X-linked myotubular myopathy [RCV000408634] ChrX:150598681 [GRCh38]
ChrX:149767145 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.529-76G>A single nucleotide variant not provided [RCV001571873] ChrX:150641193 [GRCh38]
ChrX:149809666 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1291G>A (p.Asp431Asn) single nucleotide variant not provided [RCV000490085]|not specified [RCV000304588] ChrX:150659694 [GRCh38]
ChrX:149828167 [GRCh37]
ChrX:Xq28		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000252.3(MTM1):c.444+1G>A single nucleotide variant not provided [RCV000364200] ChrX:150619140 [GRCh38]
ChrX:149787613 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.1297G>A (p.Asp433Asn) single nucleotide variant not provided [RCV000724987]|not specified [RCV000354503] ChrX:150659700 [GRCh38]
ChrX:149828173 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.19del (p.Ser7fs) deletion not provided [RCV000394658] ChrX:150592632 [GRCh38]
ChrX:149761094 [GRCh37]
ChrX:Xq28		 pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
NM_000252.3(MTM1):c.63+7del deletion Severe X-linked myotubular myopathy [RCV000876026]|not specified [RCV000599834] ChrX:150592683 [GRCh38]
ChrX:149761145 [GRCh37]
ChrX:Xq28		 benign|likely benign
NM_000252.3(MTM1):c.1053+5G>A single nucleotide variant Centronuclear myopathy [RCV000582006] ChrX:150649906 [GRCh38]
ChrX:149818379 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.1262G>T (p.Arg421Leu) single nucleotide variant Polyhydramnios [RCV000735401]|See cases [RCV003156130]|not provided [RCV001816810] ChrX:150659665 [GRCh38]
ChrX:149828138 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
NM_000252.3(MTM1):c.734C>T (p.Pro245Leu) single nucleotide variant Severe X-linked myotubular myopathy [RCV000529682] ChrX:150645738 [GRCh38]
ChrX:149814211 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28		 pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28		 pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_000252.3(MTM1):c.444+16C>G single nucleotide variant Severe X-linked myotubular myopathy [RCV003617812]|not specified [RCV000434699] ChrX:150619155 [GRCh38]
ChrX:149787628 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.528+6A>G single nucleotide variant not specified [RCV000418103] ChrX:150639032 [GRCh38]
ChrX:149807505 [GRCh37]
ChrX:Xq28		 likely benign
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_000252.3(MTM1):c.-24G>T single nucleotide variant not provided [RCV001698340] ChrX:150568649 [GRCh38]
ChrX:149737099 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.-48G>C single nucleotide variant not specified [RCV000439241] ChrX:150568625 [GRCh38]
ChrX:149737075 [GRCh37]
ChrX:Xq28		 likely benign
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28		 pathogenic
NM_000252.3(MTM1):c.582C>T (p.Leu194=) single nucleotide variant MTM1-related condition [RCV003902558]|Severe X-linked myotubular myopathy [RCV000541166]|not specified [RCV000433479] ChrX:150641322 [GRCh38]
ChrX:149809795 [GRCh37]
ChrX:Xq28		 benign|likely benign
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq25-28(chrX:126773628-155233731)x1 copy number loss See cases [RCV000448724] ChrX:126773628..155233731 [GRCh37]
ChrX:Xq25-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq26.3-28(chrX:134114063-155233731)x1 copy number loss See cases [RCV000448865] ChrX:134114063..155233731 [GRCh37]
ChrX:Xq26.3-28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
NM_000252.3(MTM1):c.742G>A (p.Gly248Ser) single nucleotide variant Severe X-linked myotubular myopathy [RCV001404629]|not provided [RCV000482318] ChrX:150645746 [GRCh38]
ChrX:149814219 [GRCh37]
ChrX:Xq28		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000252.3(MTM1):c.465del (p.Asn155fs) deletion Severe X-linked myotubular myopathy [RCV000503395] ChrX:150638963 [GRCh38]
ChrX:149807436 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_000252.3(MTM1):c.1178dup (p.Leu393fs) duplication Severe X-linked myotubular myopathy [RCV000499983] ChrX:150657943..150657944 [GRCh38]
ChrX:149826416..149826417 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.342+1G>A single nucleotide variant Severe X-linked myotubular myopathy [RCV000500214] ChrX:150614700 [GRCh38]
ChrX:149783173 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
NM_000252.3(MTM1):c.1505T>A (p.Ile502Lys) single nucleotide variant Severe X-linked myotubular myopathy [RCV000809205]|not specified [RCV000502602] ChrX:150663470 [GRCh38]
ChrX:149831943 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic|uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28		 pathogenic|uncertain significance
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 copy number loss See cases [RCV000511572] ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28		 pathogenic
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 copy number loss See cases [RCV000511936] ChrX:116621104..155233731 [GRCh37]
ChrX:Xq24-28		 pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xq27.3-28(chrX:146232592-155233731)x1 copy number loss See cases [RCV000511228] ChrX:146232592..155233731 [GRCh37]
ChrX:Xq27.3-28		 pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
GRCh37/hg19 Xq26.3-28(chrX:133944147-155233731)x3 copy number gain See cases [RCV000511034] ChrX:133944147..155233731 [GRCh37]
ChrX:Xq26.3-28		 pathogenic
NM_000252.3(MTM1):c.1406A>C (p.His469Pro) single nucleotide variant Severe X-linked myotubular myopathy [RCV000636896] ChrX:150660423 [GRCh38]
ChrX:149828896 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.1052A>G (p.Lys351Arg) single nucleotide variant Severe X-linked myotubular myopathy [RCV001079479]|not provided [RCV000594938] ChrX:150649900 [GRCh38]
ChrX:149818373 [GRCh37]
ChrX:Xq28		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000252.3(MTM1):c.953G>A (p.Arg318Gln) single nucleotide variant Severe X-linked myotubular myopathy [RCV003617948]|not provided [RCV002224157] ChrX:150649801 [GRCh38]
ChrX:149818274 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.1468-10C>T single nucleotide variant Severe X-linked myotubular myopathy [RCV000874769]|not specified [RCV000606767] ChrX:150663423 [GRCh38]
ChrX:149831896 [GRCh37]
ChrX:Xq28		 benign|likely benign
NM_000252.3(MTM1):c.136+17A>G single nucleotide variant Severe X-linked myotubular myopathy [RCV002062830]|not specified [RCV000613451] ChrX:150596587 [GRCh38]
ChrX:149765051 [GRCh37]
ChrX:Xq28		 benign
NM_000252.3(MTM1):c.1454C>T (p.Ala485Val) single nucleotide variant Severe X-linked myotubular myopathy [RCV000527810]|not specified [RCV000605492] ChrX:150660471 [GRCh38]
ChrX:149828944 [GRCh37]
ChrX:Xq28		 benign|likely benign
NM_000252.3(MTM1):c.867+17A>G single nucleotide variant Severe X-linked myotubular myopathy [RCV002064323]|not specified [RCV000608943] ChrX:150645888 [GRCh38]
ChrX:149814361 [GRCh37]
ChrX:Xq28		 benign|likely benign
NM_000252.3(MTM1):c.405G>A (p.Glu135=) single nucleotide variant not specified [RCV000609146] ChrX:150619100 [GRCh38]
ChrX:149787573 [GRCh37]
ChrX:Xq28		 likely benign
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3 copy number gain See cases [RCV000512365] ChrX:96499476..151870013 [GRCh37]
ChrX:Xq21.33-28		 uncertain significance
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28		 pathogenic
NM_000252.3(MTM1):c.1724A>G (p.Gln575Arg) single nucleotide variant Severe X-linked myotubular myopathy [RCV000636895]|not provided [RCV003488747] ChrX:150671507 [GRCh38]
ChrX:149839980 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.1210G>A (p.Glu404Lys) single nucleotide variant Qualitative or quantitative defects of myotubularin [RCV002529856]|Severe X-linked myotubular myopathy [RCV000636898] ChrX:150657977 [GRCh38]
ChrX:149826450 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000252.3(MTM1):c.423G>A (p.Ala141=) single nucleotide variant Severe X-linked myotubular myopathy [RCV000636900] ChrX:150619118 [GRCh38]
ChrX:149787591 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1119G>A (p.Val373=) single nucleotide variant Severe X-linked myotubular myopathy [RCV000636901] ChrX:150657886 [GRCh38]
ChrX:149826359 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1713T>C (p.Leu571=) single nucleotide variant Severe X-linked myotubular myopathy [RCV001404613] ChrX:150671496 [GRCh38]
ChrX:149839969 [GRCh37]
ChrX:Xq28		 likely benign
NC_000023.10:g.(?_149826274)_(149840088_?)del deletion Severe X-linked myotubular myopathy [RCV000636904] ChrX:149826274..149840088 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xq28(chrX:149818189-149840068)x3 copy number gain not provided [RCV000659220] ChrX:149818189..149840068 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.700G>C (p.Glu234Gln) single nucleotide variant Severe X-linked myotubular myopathy [RCV001419343]|not provided [RCV000659181] ChrX:150645704 [GRCh38]
ChrX:149814177 [GRCh37]
ChrX:Xq28		 likely benign|uncertain significance
NM_000252.3(MTM1):c.65C>T (p.Thr22Met) single nucleotide variant Severe X-linked myotubular myopathy [RCV000700367] ChrX:150596499 [GRCh38]
ChrX:149764963 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 copy number loss not provided [RCV000684386] ChrX:125733292..155233846 [GRCh37]
ChrX:Xq25-28		 pathogenic
GRCh37/hg19 Xq27.1-28(chrX:138331745-155233731)x1 copy number loss not provided [RCV000684397] ChrX:138331745..155233731 [GRCh37]
ChrX:Xq27.1-28		 pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139504488-155233731)x1 copy number loss not provided [RCV000684401] ChrX:139504488..155233731 [GRCh37]
ChrX:Xq27.1-28		 pathogenic
GRCh37/hg19 Xq27.2-28(chrX:140388077-155233731)x3 copy number gain not provided [RCV000684402] ChrX:140388077..155233731 [GRCh37]
ChrX:Xq27.2-28		 pathogenic
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28		 pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28		 pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28		 pathogenic
GRCh37/hg19 Xq28(chrX:149535674-149896019)x3 copy number gain not provided [RCV000684733] ChrX:149535674..149896019 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.1667G>A (p.Arg556His) single nucleotide variant Inborn genetic diseases [RCV002534370]|Severe X-linked myotubular myopathy [RCV000699135] ChrX:150671450 [GRCh38]
ChrX:149839923 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.1204G>A (p.Gly402Arg) single nucleotide variant Severe X-linked myotubular myopathy [RCV000700810] ChrX:150657971 [GRCh38]
ChrX:149826444 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000252.3(MTM1):c.481G>A (p.Val161Met) single nucleotide variant Severe X-linked myotubular myopathy [RCV000693657]|not provided [RCV002291287] ChrX:150638979 [GRCh38]
ChrX:149807452 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.1724A>C (p.Gln575Pro) single nucleotide variant Severe X-linked myotubular myopathy [RCV000686374] ChrX:150671507 [GRCh38]
ChrX:149839980 [GRCh37]
ChrX:Xq28		 uncertain significance
NC_000023.10:g.(?_149826294)_(149826500_?)del deletion Severe X-linked myotubular myopathy [RCV000708212] ChrX:149826294..149826500 [GRCh37]
ChrX:Xq28		 likely pathogenic
NC_000023.10:g.(?_149826274)_(149826520_?)del deletion Severe X-linked myotubular myopathy [RCV000708218] ChrX:149826274..149826520 [GRCh37]
ChrX:Xq28		 likely pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139586015-154774957) copy number gain Syndromic X-linked intellectual disability Lubs type [RCV003214133] ChrX:139586015..154774957 [GRCh37]
ChrX:Xq27.1-28		 pathogenic
NM_000252.3(MTM1):c.528+1035G>A single nucleotide variant not provided [RCV001574949] ChrX:150640061 [GRCh38]
ChrX:149808534 [GRCh37]
ChrX:Xq28		 likely benign
GRCh37/hg19 Xq28(chrX:149489169-149808154)x2 copy number gain not provided [RCV000753901] ChrX:149489169..149808154 [GRCh37]
ChrX:Xq28		 benign
GRCh37/hg19 Xq27.1-28(chrX:138750575-155246749)x1 copy number loss not provided [RCV000753810] ChrX:138750575..155246749 [GRCh37]
ChrX:Xq27.1-28		 pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139504958-155254881)x1 copy number loss not provided [RCV000753815] ChrX:139504958..155254881 [GRCh37]
ChrX:Xq27.1-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
Single allele duplication Autism [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
NM_000252.3(MTM1):c.1469A>G (p.Lys490Arg) single nucleotide variant Inborn genetic diseases [RCV003365426]|Severe X-linked myotubular myopathy [RCV002568163]|not provided [RCV001529349] ChrX:150663434 [GRCh38]
ChrX:149831907 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.63+252C>T single nucleotide variant not provided [RCV001585513] ChrX:150592929 [GRCh38]
ChrX:149761391 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.64-198A>G single nucleotide variant not provided [RCV001572395] ChrX:150596300 [GRCh38]
ChrX:149764764 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.343-192C>T single nucleotide variant not provided [RCV001548471] ChrX:150618846 [GRCh38]
ChrX:149787319 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1372T>G (p.Phe458Val) single nucleotide variant Severe X-linked myotubular myopathy [RCV003314500] ChrX:150660389 [GRCh38]
ChrX:149828862 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000252.3(MTM1):c.343-158A>G single nucleotide variant not provided [RCV001567749] ChrX:150618880 [GRCh38]
ChrX:149787353 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1509C>T (p.Asn503=) single nucleotide variant Severe X-linked myotubular myopathy [RCV001505007] ChrX:150663474 [GRCh38]
ChrX:149831947 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.176T>C (p.Ile59Thr) single nucleotide variant Severe X-linked myotubular myopathy [RCV000905685]|not provided [RCV003489962] ChrX:150598631 [GRCh38]
ChrX:149767095 [GRCh37]
ChrX:Xq28		 benign|uncertain significance
NM_000252.3(MTM1):c.1290C>T (p.Thr430=) single nucleotide variant Severe X-linked myotubular myopathy [RCV000864927] ChrX:150659693 [GRCh38]
ChrX:149828166 [GRCh37]
ChrX:Xq28		 benign
NM_000252.3(MTM1):c.1062G>A (p.Leu354=) single nucleotide variant Severe X-linked myotubular myopathy [RCV001480546] ChrX:150657829 [GRCh38]
ChrX:149826302 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1054-9_1054-6del deletion Severe X-linked myotubular myopathy [RCV000949144] ChrX:150657809..150657812 [GRCh38]
ChrX:149826282..149826285 [GRCh37]
ChrX:Xq28		 benign
NM_000252.3(MTM1):c.1383A>G (p.Gln461=) single nucleotide variant Severe X-linked myotubular myopathy [RCV001036755] ChrX:150660400 [GRCh38]
ChrX:149828873 [GRCh37]
ChrX:Xq28		 likely benign|uncertain significance
NM_000252.3(MTM1):c.678+6T>A single nucleotide variant Severe X-linked myotubular myopathy [RCV001058302] ChrX:150641424 [GRCh38]
ChrX:149809897 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
NM_000252.3(MTM1):c.624del (p.Ser209fs) deletion Severe X-linked myotubular myopathy [RCV001056079] ChrX:150641363 [GRCh38]
ChrX:149809836 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.1184G>A (p.Ser395Asn) single nucleotide variant Severe X-linked myotubular myopathy [RCV001051781] ChrX:150657951 [GRCh38]
ChrX:149826424 [GRCh37]
ChrX:Xq28		 uncertain significance
NC_000023.10:g.(?_149831896)_(149832092_?)del deletion Severe X-linked myotubular myopathy [RCV001032512] ChrX:149831896..149832092 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.1225A>G (p.Lys409Glu) single nucleotide variant Severe X-linked myotubular myopathy [RCV000781955] ChrX:150657992 [GRCh38]
ChrX:149826465 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.1053+1G>A single nucleotide variant Severe X-linked myotubular myopathy [RCV000781956] ChrX:150649902 [GRCh38]
ChrX:149818375 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.593A>C (p.Tyr198Ser) single nucleotide variant Severe X-linked myotubular myopathy [RCV000781957] ChrX:150641333 [GRCh38]
ChrX:149809806 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.1381C>T (p.Gln461Ter) single nucleotide variant Severe X-linked myotubular myopathy [RCV000781954]|not provided [RCV001543470] ChrX:150660398 [GRCh38]
ChrX:149828871 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.136+172= single nucleotide variant not provided [RCV000841867] ChrX:150596742 [GRCh38]
ChrX:149765206 [GRCh37]
ChrX:Xq28		 likely benign
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28		 pathogenic
NM_000252.3(MTM1):c.620G>A (p.Arg207His) single nucleotide variant Severe X-linked myotubular myopathy [RCV000973856] ChrX:150641360 [GRCh38]
ChrX:149809833 [GRCh37]
ChrX:Xq28		 benign
NM_000252.3(MTM1):c.1376A>G (p.Asn459Ser) single nucleotide variant Inborn genetic diseases [RCV002540970]|Severe X-linked myotubular myopathy [RCV000920576]|not provided [RCV001595056] ChrX:150660393 [GRCh38]
ChrX:149828866 [GRCh37]
ChrX:Xq28		 likely benign|uncertain significance
NM_000252.3(MTM1):c.1065A>G (p.Thr355=) single nucleotide variant Severe X-linked myotubular myopathy [RCV002540079] ChrX:150657832 [GRCh38]
ChrX:149826305 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1662G>A (p.Glu554=) single nucleotide variant Severe X-linked myotubular myopathy [RCV001500663] ChrX:150671445 [GRCh38]
ChrX:149839918 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.954G>C (p.Arg318=) single nucleotide variant Severe X-linked myotubular myopathy [RCV000982782] ChrX:150649802 [GRCh38]
ChrX:149818275 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.230C>T (p.Thr77Met) single nucleotide variant Inborn genetic diseases [RCV003363023]|Severe X-linked myotubular myopathy [RCV000939442] ChrX:150598685 [GRCh38]
ChrX:149767149 [GRCh37]
ChrX:Xq28		 benign|uncertain significance
NM_000252.3(MTM1):c.546T>C (p.His182=) single nucleotide variant Severe X-linked myotubular myopathy [RCV000898166] ChrX:150641286 [GRCh38]
ChrX:149809759 [GRCh37]
ChrX:Xq28		 benign
NM_000252.3(MTM1):c.1578C>T (p.Ala526=) single nucleotide variant Severe X-linked myotubular myopathy [RCV000977358] ChrX:150663543 [GRCh38]
ChrX:149832016 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.420C>T (p.Tyr140=) single nucleotide variant Severe X-linked myotubular myopathy [RCV001418863] ChrX:150619115 [GRCh38]
ChrX:149787588 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.753G>A (p.Gly251=) single nucleotide variant Severe X-linked myotubular myopathy [RCV001442731] ChrX:150645757 [GRCh38]
ChrX:149814230 [GRCh37]
ChrX:Xq28		 likely benign
GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945) copy number gain not provided [RCV000767679] ChrX:134975270..155233945 [GRCh37]
ChrX:Xq26.3-28		 pathogenic
NM_000252.3(MTM1):c.530G>T (p.Gly177Val) single nucleotide variant Severe X-linked myotubular myopathy [RCV000804374] ChrX:150641270 [GRCh38]
ChrX:149809743 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.-10-152= single nucleotide variant not provided [RCV000839677] ChrX:150592453 [GRCh38]
ChrX:149760915 [GRCh37]
ChrX:Xq28		 benign
NM_000252.3(MTM1):c.76_90del (p.Gly26_Asp30del) deletion Severe X-linked myotubular myopathy [RCV000815856] ChrX:150596503..150596517 [GRCh38]
ChrX:149764967..149764981 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.1666C>T (p.Arg556Cys) single nucleotide variant Severe X-linked myotubular myopathy [RCV000817638] ChrX:150671449 [GRCh38]
ChrX:149839922 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.529-257C>G single nucleotide variant not provided [RCV000831992] ChrX:150641012 [GRCh38]
ChrX:149809485 [GRCh37]
ChrX:Xq28		 benign
NM_000252.3(MTM1):c.342+106C>G single nucleotide variant not provided [RCV000838281] ChrX:150614805 [GRCh38]
ChrX:149783278 [GRCh37]
ChrX:Xq28		 benign
NM_000252.3(MTM1):c.233A>T (p.Asp78Val) single nucleotide variant Severe X-linked myotubular myopathy [RCV000821584] ChrX:150614590 [GRCh38]
ChrX:149783063 [GRCh37]
ChrX:Xq28		 uncertain significance
NC_000023.10:g.(?_149831886)_(149840088_?)del deletion Severe X-linked myotubular myopathy [RCV000800047] ChrX:149831886..149840088 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.528+70G>A single nucleotide variant not provided [RCV000843367] ChrX:150639096 [GRCh38]
ChrX:149807569 [GRCh37]
ChrX:Xq28		 benign
NM_000252.3(MTM1):c.1260+240A>G single nucleotide variant not provided [RCV000843369] ChrX:150658267 [GRCh38]
ChrX:149826740 [GRCh37]
ChrX:Xq28		 benign
NM_000252.3(MTM1):c.1533C>A (p.Asn511Lys) single nucleotide variant Autosomal dominant centronuclear myopathy [RCV000785044]|Severe X-linked myotubular myopathy [RCV001869169] ChrX:150663498 [GRCh38]
ChrX:149831971 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.1353+262C>T single nucleotide variant not provided [RCV000832925] ChrX:150660018 [GRCh38]
ChrX:149828491 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.64-9T>C single nucleotide variant Severe X-linked myotubular myopathy [RCV000975344] ChrX:150596489 [GRCh38]
ChrX:149764953 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.5C>T (p.Ala2Val) single nucleotide variant Severe X-linked myotubular myopathy [RCV000800620] ChrX:150592619 [GRCh38]
ChrX:149761081 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.136+1G>T single nucleotide variant Severe X-linked myotubular myopathy [RCV000990966] ChrX:150596571 [GRCh38]
ChrX:149765035 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.490_493del (p.Trp164fs) microsatellite Severe X-linked myotubular myopathy [RCV000990967] ChrX:150638980..150638983 [GRCh38]
ChrX:149807453..149807456 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.64-2A>G single nucleotide variant Severe X-linked myotubular myopathy [RCV000804174] ChrX:150596496 [GRCh38]
ChrX:149764960 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28		 pathogenic
NM_000252.3(MTM1):c.343-100A>G single nucleotide variant not provided [RCV000841896] ChrX:150618938 [GRCh38]
ChrX:149787411 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.679-150C>G single nucleotide variant not provided [RCV000841897] ChrX:150645533 [GRCh38]
ChrX:149814006 [GRCh37]
ChrX:Xq28		 likely benign
NC_000023.10:g.(?_149783042)_(149787632_?)del deletion Severe X-linked myotubular myopathy [RCV000798816] ChrX:149783042..149787632 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000252.3(MTM1):c.867+180A>C single nucleotide variant not provided [RCV000843344] ChrX:150646051 [GRCh38]
ChrX:149814524 [GRCh37]
ChrX:Xq28		 benign
NM_000252.3(MTM1):c.1353+229A>G single nucleotide variant not provided [RCV000843345] ChrX:150659985 [GRCh38]
ChrX:149828458 [GRCh37]
ChrX:Xq28		 likely benign
GRCh37/hg19 Xq28(chrX:149838580-150125188)x2 copy number gain not provided [RCV000848881] ChrX:149838580..150125188 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
NM_000252.3(MTM1):c.439A>G (p.Ser147Gly) single nucleotide variant Severe X-linked myotubular myopathy [RCV001044222] ChrX:150619134 [GRCh38]
ChrX:149787607 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.543C>G (p.His181Gln) single nucleotide variant Severe X-linked myotubular myopathy [RCV000821382] ChrX:150641283 [GRCh38]
ChrX:149809756 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.232-147G>C single nucleotide variant not provided [RCV000843347] ChrX:150614442 [GRCh38]
ChrX:149782915 [GRCh37]
ChrX:Xq28		 benign
NM_000252.3(MTM1):c.867+13A>C single nucleotide variant Severe X-linked myotubular myopathy [RCV002067449]|not provided [RCV000827363] ChrX:150645884 [GRCh38]
ChrX:149814357 [GRCh37]
ChrX:Xq28		 benign|likely benign
NM_000252.3(MTM1):c.445-33C>T single nucleotide variant not provided [RCV000839271] ChrX:150638910 [GRCh38]
ChrX:149807383 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1729G>A (p.Ala577Thr) single nucleotide variant Severe X-linked myotubular myopathy [RCV000920630] ChrX:150671512 [GRCh38]
ChrX:149839985 [GRCh37]
ChrX:Xq28		 benign
NC_000023.10:g.(?_149761067)_(149840078_?)del deletion Severe X-linked myotubular myopathy [RCV000815920] ChrX:149761067..149840078 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.1260+134C>T single nucleotide variant not provided [RCV000836135] ChrX:150658161 [GRCh38]
ChrX:149826634 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.503del (p.Asn168fs) deletion not provided [RCV001008579] ChrX:150639000 [GRCh38]
ChrX:149807473 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.846C>T (p.Ser282=) single nucleotide variant Severe X-linked myotubular myopathy [RCV001428307] ChrX:150645850 [GRCh38]
ChrX:149814323 [GRCh37]
ChrX:Xq28		 likely benign
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28		 pathogenic
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28		 pathogenic
NM_000252.3(MTM1):c.952C>T (p.Arg318Trp) single nucleotide variant Severe X-linked myotubular myopathy [RCV001228323] ChrX:150649800 [GRCh38]
ChrX:149818273 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.1354-2A>T single nucleotide variant Severe X-linked myotubular myopathy [RCV001239440] ChrX:150660369 [GRCh38]
ChrX:149828842 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000252.3(MTM1):c.175A>G (p.Ile59Val) single nucleotide variant Severe X-linked myotubular myopathy [RCV001214396]|not provided [RCV003490125] ChrX:150598630 [GRCh38]
ChrX:149767094 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.516del (p.Glu172fs) deletion Severe X-linked myotubular myopathy [RCV001221821] ChrX:150639013 [GRCh38]
ChrX:149807486 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.1644+1G>A single nucleotide variant Severe X-linked myotubular myopathy [RCV001196667] ChrX:150663610 [GRCh38]
ChrX:149832083 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28		 pathogenic
NM_000252.3(MTM1):c.814del (p.Ser272fs) deletion not provided [RCV001008237] ChrX:150645816 [GRCh38]
ChrX:149814289 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.1542T>C (p.Tyr514=) single nucleotide variant Severe X-linked myotubular myopathy [RCV003104320] ChrX:150663507 [GRCh38]
ChrX:149831980 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.-10-248C>T single nucleotide variant not provided [RCV001578041] ChrX:150592357 [GRCh38]
ChrX:149760819 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.-10-328A>G single nucleotide variant not provided [RCV001657595] ChrX:150592277 [GRCh38]
ChrX:149760739 [GRCh37]
ChrX:Xq28		 benign
NM_000252.3(MTM1):c.529-324G>A single nucleotide variant not provided [RCV001547651] ChrX:150640945 [GRCh38]
ChrX:149809418 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1131C>T (p.Asp377=) single nucleotide variant Severe X-linked myotubular myopathy [RCV000979016] ChrX:150657898 [GRCh38]
ChrX:149826371 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.55A>C (p.Ile19Leu) single nucleotide variant Severe X-linked myotubular myopathy [RCV000931670] ChrX:150592669 [GRCh38]
ChrX:149761131 [GRCh37]
ChrX:Xq28		 benign
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 copy number loss Premature ovarian insufficiency [RCV000852349] ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28		 likely pathogenic
NM_000252.3(MTM1):c.1793A>G (p.His598Arg) single nucleotide variant MTM1-related condition [RCV003938357]|Severe X-linked myotubular myopathy [RCV000875386] ChrX:150671576 [GRCh38]
ChrX:149840049 [GRCh37]
ChrX:Xq28		 benign|likely benign
NM_000252.3(MTM1):c.1692C>T (p.Arg564=) single nucleotide variant Severe X-linked myotubular myopathy [RCV000951889] ChrX:150671475 [GRCh38]
ChrX:149839948 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.783C>T (p.Leu261=) single nucleotide variant Severe X-linked myotubular myopathy [RCV001520142] ChrX:150645787 [GRCh38]
ChrX:149814260 [GRCh37]
ChrX:Xq28		 benign
NM_000252.3(MTM1):c.64-7T>C single nucleotide variant Severe X-linked myotubular myopathy [RCV001438665] ChrX:150596491 [GRCh38]
ChrX:149764955 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1194G>A (p.Arg398=) single nucleotide variant Severe X-linked myotubular myopathy [RCV001467220] ChrX:150657961 [GRCh38]
ChrX:149826434 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1008T>C (p.His336=) single nucleotide variant Severe X-linked myotubular myopathy [RCV001437754] ChrX:150649856 [GRCh38]
ChrX:149818329 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1213A>G (p.Ile405Val) single nucleotide variant Severe X-linked myotubular myopathy [RCV000902548] ChrX:150657980 [GRCh38]
ChrX:149826453 [GRCh37]
ChrX:Xq28		 benign
NM_000252.3(MTM1):c.911C>T (p.Ala304Val) single nucleotide variant Severe X-linked myotubular myopathy [RCV001222131] ChrX:150649759 [GRCh38]
ChrX:149818232 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.730C>T (p.Gln244Ter) single nucleotide variant Severe X-linked myotubular myopathy [RCV001244848] ChrX:150645734 [GRCh38]
ChrX:149814207 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.1753C>G (p.Pro585Ala) single nucleotide variant Severe X-linked myotubular myopathy [RCV001240082] ChrX:150671536 [GRCh38]
ChrX:149840009 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.1212A>C (p.Glu404Asp) single nucleotide variant Severe X-linked myotubular myopathy [RCV001044086] ChrX:150657979 [GRCh38]
ChrX:149826452 [GRCh37]
ChrX:Xq28		 likely pathogenic|uncertain significance
NM_000252.3(MTM1):c.116del (p.Pro39fs) deletion Severe X-linked myotubular myopathy [RCV001210021] ChrX:150596549 [GRCh38]
ChrX:149765013 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.615G>A (p.Pro205=) single nucleotide variant Severe X-linked myotubular myopathy [RCV000890058] ChrX:150641355 [GRCh38]
ChrX:149809828 [GRCh37]
ChrX:Xq28		 benign
NM_000252.3(MTM1):c.930C>T (p.Asp310=) single nucleotide variant Severe X-linked myotubular myopathy [RCV003507328] ChrX:150649778 [GRCh38]
ChrX:149818251 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.447A>G (p.Pro149=) single nucleotide variant Severe X-linked myotubular myopathy [RCV001400180] ChrX:150638945 [GRCh38]
ChrX:149807418 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.231+30C>A single nucleotide variant not provided [RCV001552277] ChrX:150598716 [GRCh38]
ChrX:149767180 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.62G>A (p.Arg21Lys) single nucleotide variant See cases [RCV002252812]|Severe X-linked myotubular myopathy [RCV003617951] ChrX:150592676 [GRCh38]
ChrX:149761138 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.-11+51C>T single nucleotide variant not provided [RCV002254072] ChrX:150568713 [GRCh38]
ChrX:149737163 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.63+183dup duplication not provided [RCV001568579] ChrX:150592846..150592847 [GRCh38]
ChrX:149761308..149761309 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1053+105A>C single nucleotide variant not provided [RCV001594184] ChrX:150650006 [GRCh38]
ChrX:149818479 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1053+23T>C single nucleotide variant not provided [RCV001718162] ChrX:150649924 [GRCh38]
ChrX:149818397 [GRCh37]
ChrX:Xq28		 benign
NM_000252.3(MTM1):c.154A>G (p.Ile52Val) single nucleotide variant Inborn genetic diseases [RCV003276663] ChrX:150598609 [GRCh38]
ChrX:149767073 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.232-28C>T single nucleotide variant Severe X-linked myotubular myopathy [RCV001827571]|not provided [RCV001659438] ChrX:150614561 [GRCh38]
ChrX:149783034 [GRCh37]
ChrX:Xq28		 benign
NM_000252.3(MTM1):c.410T>C (p.Leu137Pro) single nucleotide variant Severe X-linked myotubular myopathy [RCV003617931]|not provided [RCV001581462] ChrX:150619105 [GRCh38]
ChrX:149787578 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.64-50A>T single nucleotide variant not provided [RCV001678215] ChrX:150596448 [GRCh38]
ChrX:149764912 [GRCh37]
ChrX:Xq28		 benign
NM_000252.3(MTM1):c.1054-201A>T single nucleotide variant not provided [RCV001721902] ChrX:150657620 [GRCh38]
ChrX:149826093 [GRCh37]
ChrX:Xq28		 benign
NM_000252.3(MTM1):c.1054-193A>G single nucleotide variant not provided [RCV001721904] ChrX:150657628 [GRCh38]
ChrX:149826101 [GRCh37]
ChrX:Xq28		 benign
NM_000252.3(MTM1):c.1053+5G>T single nucleotide variant Severe X-linked myotubular myopathy [RCV001253112] ChrX:150649906 [GRCh38]
ChrX:149818379 [GRCh37]
ChrX:Xq28		 uncertain significance
NC_000023.11:g.150583230_150648535del deletion Myopathy [RCV001003869] ChrX:149751687..149817005 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.*182C>T single nucleotide variant not provided [RCV001580943] ChrX:150671777 [GRCh38]
ChrX:149840250 [GRCh37]
ChrX:Xq28		 likely benign
NC_000023.10:g.(?_149839891)_(149840078_?)del deletion Severe X-linked myotubular myopathy [RCV001031198] ChrX:149839891..149840078 [GRCh37]
ChrX:Xq28		 uncertain significance
NC_000023.10:g.(?_149761067)_(150573540_?)dup duplication Severe X-linked myotubular myopathy [RCV001031813] ChrX:149761067..150573540 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.592T>C (p.Tyr198His) single nucleotide variant Severe X-linked myotubular myopathy [RCV001196503] ChrX:150641332 [GRCh38]
ChrX:149809805 [GRCh37]
ChrX:Xq28		 likely pathogenic
NC_000023.10:g.(?_149783052)_(149840078_?)dup duplication Severe X-linked myotubular myopathy [RCV001032563] ChrX:149783052..149840078 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.1300C>T (p.Arg434Cys) single nucleotide variant Severe X-linked myotubular myopathy [RCV001060844] ChrX:150659703 [GRCh38]
ChrX:149828176 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.788T>G (p.Val263Gly) single nucleotide variant Severe X-linked myotubular myopathy [RCV001247857] ChrX:150645792 [GRCh38]
ChrX:149814265 [GRCh37]
ChrX:Xq28		 likely benign|uncertain significance
NM_000252.3(MTM1):c.728G>A (p.Ser243Asn) single nucleotide variant Severe X-linked myotubular myopathy [RCV001042735] ChrX:150645732 [GRCh38]
ChrX:149814205 [GRCh37]
ChrX:Xq28		 likely pathogenic|uncertain significance
NM_000252.3(MTM1):c.1429A>G (p.Thr477Ala) single nucleotide variant Severe X-linked myotubular myopathy [RCV001219552] ChrX:150660446 [GRCh38]
ChrX:149828919 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.397A>G (p.Met133Val) single nucleotide variant Severe X-linked myotubular myopathy [RCV001064329] ChrX:150619092 [GRCh38]
ChrX:149787565 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28		 likely pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28		 pathogenic
GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1 copy number loss See cases [RCV002285075] ChrX:77670699..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
NM_000252.3(MTM1):c.805A>T (p.Lys269Ter) single nucleotide variant Severe X-linked myotubular myopathy [RCV001264263] ChrX:150645809 [GRCh38]
ChrX:149814282 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000252.3(MTM1):c.1132G>T (p.Gly378Ter) single nucleotide variant Severe X-linked myotubular myopathy [RCV001264266] ChrX:150657899 [GRCh38]
ChrX:149826372 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000252.3(MTM1):c.97G>T (p.Glu33Ter) single nucleotide variant Severe X-linked myotubular myopathy [RCV001264141] ChrX:150596531 [GRCh38]
ChrX:149764995 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000252.3(MTM1):c.388A>T (p.Arg130Ter) single nucleotide variant Severe X-linked myotubular myopathy [RCV001264142] ChrX:150619083 [GRCh38]
ChrX:149787556 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000252.3(MTM1):c.487G>T (p.Gly163Ter) single nucleotide variant Severe X-linked myotubular myopathy [RCV001264143] ChrX:150638985 [GRCh38]
ChrX:149807458 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000252.3(MTM1):c.1201G>T (p.Glu401Ter) single nucleotide variant Severe X-linked myotubular myopathy [RCV001264267] ChrX:150657968 [GRCh38]
ChrX:149826441 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000252.3(MTM1):c.838A>T (p.Arg280Ter) single nucleotide variant Severe X-linked myotubular myopathy [RCV001264264] ChrX:150645842 [GRCh38]
ChrX:149814315 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000252.3(MTM1):c.1037G>A (p.Trp346Ter) single nucleotide variant Severe X-linked myotubular myopathy [RCV001264265] ChrX:150649885 [GRCh38]
ChrX:149818358 [GRCh37]
ChrX:Xq28		 likely pathogenic
GRCh37/hg19 Xq28(chrX:149702307-149971697)x3 copy number gain not provided [RCV001258417] ChrX:149702307..149971697 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number loss Turner syndrome [RCV002280668] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq28(chrX:149747506-150037141)x3 copy number gain not provided [RCV001260063] ChrX:149747506..150037141 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number gain 46,XX sex reversal 1 [RCV002280665]|Hypotonia [RCV002280667]|Trisomy X syndrome [RCV002280666] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
NM_000252.3(MTM1):c.421G>C (p.Ala141Pro) single nucleotide variant Severe X-linked myotubular myopathy [RCV001306172] ChrX:150619116 [GRCh38]
ChrX:149787589 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.681G>C (p.Val227=) single nucleotide variant Severe X-linked myotubular myopathy [RCV001391971] ChrX:150645685 [GRCh38]
ChrX:149814158 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.533T>C (p.Leu178Ser) single nucleotide variant Severe X-linked myotubular myopathy [RCV001358686]|not provided [RCV003490219]|not specified [RCV002282529] ChrX:150641273 [GRCh38]
ChrX:149809746 [GRCh37]
ChrX:Xq28		 likely pathogenic|uncertain significance
NM_000252.3(MTM1):c.535C>A (p.Pro179Thr) single nucleotide variant Severe X-linked myotubular myopathy [RCV001327875] ChrX:150641275 [GRCh38]
ChrX:149809748 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.931A>G (p.Ile311Val) single nucleotide variant Severe X-linked myotubular myopathy [RCV001323625] ChrX:150649779 [GRCh38]
ChrX:149818252 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.1457G>A (p.Arg486Gln) single nucleotide variant Severe X-linked myotubular myopathy [RCV001302595] ChrX:150660474 [GRCh38]
ChrX:149828947 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.1683A>G (p.Leu561=) single nucleotide variant Severe X-linked myotubular myopathy [RCV001413234] ChrX:150671466 [GRCh38]
ChrX:149839939 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.528+7T>C single nucleotide variant Severe X-linked myotubular myopathy [RCV001279581] ChrX:150639033 [GRCh38]
ChrX:149807506 [GRCh37]
ChrX:Xq28		 likely benign|uncertain significance
NM_000252.3(MTM1):c.1604T>A (p.Val535Glu) single nucleotide variant Severe X-linked myotubular myopathy [RCV001361084] ChrX:150663569 [GRCh38]
ChrX:149832042 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.1302T>C (p.Arg434=) single nucleotide variant Severe X-linked myotubular myopathy [RCV001395927] ChrX:150659705 [GRCh38]
ChrX:149828178 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1779G>T (p.Ser593=) single nucleotide variant Severe X-linked myotubular myopathy [RCV001494638] ChrX:150671562 [GRCh38]
ChrX:149840035 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.726C>T (p.Cys242=) single nucleotide variant Severe X-linked myotubular myopathy [RCV001396338] ChrX:150645730 [GRCh38]
ChrX:149814203 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.825C>T (p.Thr275=) single nucleotide variant Severe X-linked myotubular myopathy [RCV001395795] ChrX:150645829 [GRCh38]
ChrX:149814302 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1728C>T (p.Leu576=) single nucleotide variant Severe X-linked myotubular myopathy [RCV001414127] ChrX:150671511 [GRCh38]
ChrX:149839984 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1133G>T (p.Gly378Val) single nucleotide variant Severe X-linked myotubular myopathy [RCV001329126] ChrX:150657900 [GRCh38]
ChrX:149826373 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000252.3(MTM1):c.1080A>G (p.Val360=) single nucleotide variant Severe X-linked myotubular myopathy [RCV001514033]|not provided [RCV003434302] ChrX:150657847 [GRCh38]
ChrX:149826320 [GRCh37]
ChrX:Xq28		 benign|likely benign
NM_000252.3(MTM1):c.51G>A (p.Glu17=) single nucleotide variant Severe X-linked myotubular myopathy [RCV001457866] ChrX:150592665 [GRCh38]
ChrX:149761127 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.130_137del (p.Ile44fs) deletion Severe X-linked myotubular myopathy [RCV001377893] ChrX:150596563..150596570 [GRCh38]
ChrX:149765027..149765034 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000252.3(MTM1):c.1546A>T (p.Lys516Ter) single nucleotide variant Severe X-linked myotubular myopathy [RCV001384969] ChrX:150663511 [GRCh38]
ChrX:149831984 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.1455T>C (p.Ala485=) single nucleotide variant Severe X-linked myotubular myopathy [RCV001514423] ChrX:150660472 [GRCh38]
ChrX:149828945 [GRCh37]
ChrX:Xq28		 benign
NM_000252.3(MTM1):c.231+8G>A single nucleotide variant Severe X-linked myotubular myopathy [RCV001492420] ChrX:150598694 [GRCh38]
ChrX:149767158 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1650G>A (p.Pro550=) single nucleotide variant Severe X-linked myotubular myopathy [RCV001496232] ChrX:150671433 [GRCh38]
ChrX:149839906 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.755A>G (p.Lys252Arg) single nucleotide variant Severe X-linked myotubular myopathy [RCV001514809] ChrX:150645759 [GRCh38]
ChrX:149814232 [GRCh37]
ChrX:Xq28		 benign
NM_000252.3(MTM1):c.570G>A (p.Lys190=) single nucleotide variant Severe X-linked myotubular myopathy [RCV001465905] ChrX:150641310 [GRCh38]
ChrX:149809783 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.273G>A (p.Ser91=) single nucleotide variant Severe X-linked myotubular myopathy [RCV001506660] ChrX:150614630 [GRCh38]
ChrX:149783103 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.15A>C (p.Ser5=) single nucleotide variant Severe X-linked myotubular myopathy [RCV001425852] ChrX:150592629 [GRCh38]
ChrX:149761091 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1077A>G (p.Gln359=) single nucleotide variant Severe X-linked myotubular myopathy [RCV001479976] ChrX:150657844 [GRCh38]
ChrX:149826317 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1599C>T (p.Leu533=) single nucleotide variant Severe X-linked myotubular myopathy [RCV001428706] ChrX:150663564 [GRCh38]
ChrX:149832037 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1629C>T (p.Pro543=) single nucleotide variant Severe X-linked myotubular myopathy [RCV001475724] ChrX:150663594 [GRCh38]
ChrX:149832067 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.297G>A (p.Ala99=) single nucleotide variant Severe X-linked myotubular myopathy [RCV001521199] ChrX:150614654 [GRCh38]
ChrX:149783127 [GRCh37]
ChrX:Xq28		 benign
NM_000252.3(MTM1):c.342+9T>C single nucleotide variant Severe X-linked myotubular myopathy [RCV001491774] ChrX:150614708 [GRCh38]
ChrX:149783181 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.720G>A (p.Val240=) single nucleotide variant Severe X-linked myotubular myopathy [RCV001472559] ChrX:150645724 [GRCh38]
ChrX:149814197 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1779G>A (p.Ser593=) single nucleotide variant Severe X-linked myotubular myopathy [RCV001497544] ChrX:150671562 [GRCh38]
ChrX:149840035 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1188C>T (p.Phe396=) single nucleotide variant Severe X-linked myotubular myopathy [RCV001512705] ChrX:150657955 [GRCh38]
ChrX:149826428 [GRCh37]
ChrX:Xq28		 benign
NM_000252.3(MTM1):c.339T>A (p.Cys113Ter) single nucleotide variant Severe X-linked myotubular myopathy [RCV001384319] ChrX:150614696 [GRCh38]
ChrX:149783169 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.136+10T>G single nucleotide variant Severe X-linked myotubular myopathy [RCV001399284] ChrX:150596580 [GRCh38]
ChrX:149765044 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1392T>C (p.Ile464=) single nucleotide variant Severe X-linked myotubular myopathy [RCV001402327] ChrX:150660409 [GRCh38]
ChrX:149828882 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.147T>A (p.Val49=) single nucleotide variant Severe X-linked myotubular myopathy [RCV001400288] ChrX:150598602 [GRCh38]
ChrX:149767066 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.774G>A (p.Glu258=) single nucleotide variant Severe X-linked myotubular myopathy [RCV001407651] ChrX:150645778 [GRCh38]
ChrX:149814251 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1459G>T (p.Glu487Ter) single nucleotide variant Severe X-linked myotubular myopathy [RCV001388363] ChrX:150660476 [GRCh38]
ChrX:149828949 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.1056C>T (p.Leu352=) single nucleotide variant Severe X-linked myotubular myopathy [RCV001405177] ChrX:150657823 [GRCh38]
ChrX:149826296 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.810A>G (p.Gln270=) single nucleotide variant Severe X-linked myotubular myopathy [RCV001410521] ChrX:150645814 [GRCh38]
ChrX:149814287 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1086C>T (p.Asp362=) single nucleotide variant Severe X-linked myotubular myopathy [RCV001449552] ChrX:150657853 [GRCh38]
ChrX:149826326 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.111A>G (p.Arg37=) single nucleotide variant Severe X-linked myotubular myopathy [RCV001408257] ChrX:150596545 [GRCh38]
ChrX:149765009 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.432G>T (p.Leu144=) single nucleotide variant Severe X-linked myotubular myopathy [RCV001411099] ChrX:150619127 [GRCh38]
ChrX:149787600 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1447G>T (p.Glu483Ter) single nucleotide variant Severe X-linked myotubular myopathy [RCV001388878]|not provided [RCV003490240] ChrX:150660464 [GRCh38]
ChrX:149828937 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.1260+7A>T single nucleotide variant Severe X-linked myotubular myopathy [RCV001404287] ChrX:150658034 [GRCh38]
ChrX:149826507 [GRCh37]
ChrX:Xq28		 likely benign
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1 copy number loss not provided [RCV001537933] ChrX:60000..155234966 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_000252.3(MTM1):c.711G>A (p.Thr237=) single nucleotide variant Severe X-linked myotubular myopathy [RCV001479106] ChrX:150645715 [GRCh38]
ChrX:149814188 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.446C>G (p.Pro149Arg) single nucleotide variant Severe X-linked myotubular myopathy [RCV001516072] ChrX:150638944 [GRCh38]
ChrX:149807417 [GRCh37]
ChrX:Xq28		 benign
NM_000252.3(MTM1):c.664C>A (p.Arg222=) single nucleotide variant Severe X-linked myotubular myopathy [RCV001462689] ChrX:150641404 [GRCh38]
ChrX:149809877 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1758A>G (p.Pro586=) single nucleotide variant Severe X-linked myotubular myopathy [RCV001480582] ChrX:150671541 [GRCh38]
ChrX:149840014 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.426T>C (p.Phe142=) single nucleotide variant Severe X-linked myotubular myopathy [RCV001498007] ChrX:150619121 [GRCh38]
ChrX:149787594 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1591T>C (p.Leu531=) single nucleotide variant Severe X-linked myotubular myopathy [RCV001504736] ChrX:150663556 [GRCh38]
ChrX:149832029 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.232-54A>T single nucleotide variant Severe X-linked myotubular myopathy [RCV001832821]|not provided [RCV001592208] ChrX:150614535 [GRCh38]
ChrX:149783008 [GRCh37]
ChrX:Xq28		 benign|likely benign
NM_000252.3(MTM1):c.684G>A (p.Leu228=) single nucleotide variant Severe X-linked myotubular myopathy [RCV001498749] ChrX:150645688 [GRCh38]
ChrX:149814161 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.86G>A (p.Arg29Gln) single nucleotide variant Severe X-linked myotubular myopathy [RCV001522731] ChrX:150596520 [GRCh38]
ChrX:149764984 [GRCh37]
ChrX:Xq28		 benign
NM_000252.3(MTM1):c.1354-6G>A single nucleotide variant Severe X-linked myotubular myopathy [RCV001472964] ChrX:150660365 [GRCh38]
ChrX:149828838 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.444+10A>G single nucleotide variant Severe X-linked myotubular myopathy [RCV001439795] ChrX:150619149 [GRCh38]
ChrX:149787622 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1645-8C>T single nucleotide variant Severe X-linked myotubular myopathy [RCV001523158] ChrX:150671420 [GRCh38]
ChrX:149839893 [GRCh37]
ChrX:Xq28		 benign
NM_000252.3(MTM1):c.1695C>T (p.Asp565=) single nucleotide variant Severe X-linked myotubular myopathy [RCV001514644] ChrX:150671478 [GRCh38]
ChrX:149839951 [GRCh37]
ChrX:Xq28		 benign
NM_000252.3(MTM1):c.508G>C (p.Val170Leu) single nucleotide variant Inborn genetic diseases [RCV003346590]|Severe X-linked myotubular myopathy [RCV001514668] ChrX:150639006 [GRCh38]
ChrX:149807479 [GRCh37]
ChrX:Xq28		 benign|uncertain significance
NM_000252.3(MTM1):c.66G>A (p.Thr22=) single nucleotide variant Severe X-linked myotubular myopathy [RCV001482314] ChrX:150596500 [GRCh38]
ChrX:149764964 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1560A>G (p.Arg520=) single nucleotide variant Severe X-linked myotubular myopathy [RCV001423430] ChrX:150663525 [GRCh38]
ChrX:149831998 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.999A>G (p.Glu333=) single nucleotide variant Severe X-linked myotubular myopathy [RCV001521576] ChrX:150649847 [GRCh38]
ChrX:149818320 [GRCh37]
ChrX:Xq28		 benign
NM_000252.3(MTM1):c.816T>G (p.Ser272=) single nucleotide variant Severe X-linked myotubular myopathy [RCV001434301] ChrX:150645820 [GRCh38]
ChrX:149814293 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.741C>T (p.Val247=) single nucleotide variant Severe X-linked myotubular myopathy [RCV001514843] ChrX:150645745 [GRCh38]
ChrX:149814218 [GRCh37]
ChrX:Xq28		 benign
NM_000252.3(MTM1):c.945T>C (p.His315=) single nucleotide variant Severe X-linked myotubular myopathy [RCV001393309] ChrX:150649793 [GRCh38]
ChrX:149818266 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.539A>G (p.Asn180Ser) single nucleotide variant Severe X-linked myotubular myopathy [RCV001515039] ChrX:150641279 [GRCh38]
ChrX:149809752 [GRCh37]
ChrX:Xq28		 benign
NM_000252.3(MTM1):c.1518A>G (p.Lys506=) single nucleotide variant Severe X-linked myotubular myopathy [RCV001432904] ChrX:150663483 [GRCh38]
ChrX:149831956 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1468-5T>C single nucleotide variant Severe X-linked myotubular myopathy [RCV001496955] ChrX:150663428 [GRCh38]
ChrX:149831901 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.480C>T (p.Asn160=) single nucleotide variant Severe X-linked myotubular myopathy [RCV001505535] ChrX:150638978 [GRCh38]
ChrX:149807451 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.38C>T (p.Ser13Phe) single nucleotide variant Inborn genetic diseases [RCV003169981]|Severe X-linked myotubular myopathy [RCV001398779]|not provided [RCV003159207] ChrX:150592652 [GRCh38]
ChrX:149761114 [GRCh37]
ChrX:Xq28		 likely benign|uncertain significance
NM_000252.3(MTM1):c.1261-2A>C single nucleotide variant Severe X-linked myotubular myopathy [RCV001379511] ChrX:150659662 [GRCh38]
ChrX:149828135 [GRCh37]
ChrX:Xq28		 likely pathogenic
NC_000023.11:g.150568509C>T single nucleotide variant not provided [RCV002280528] ChrX:150568509 [GRCh38]
ChrX:149736959 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.153C>A (p.Tyr51Ter) single nucleotide variant Severe X-linked myotubular myopathy [RCV002273036] ChrX:150598608 [GRCh38]
ChrX:149767072 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.581T>C (p.Leu194Pro) single nucleotide variant not provided [RCV003237481] ChrX:150641321 [GRCh38]
ChrX:149809794 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000252.3(MTM1):c.63+1G>T single nucleotide variant Severe X-linked myotubular myopathy [RCV001733828] ChrX:150592678 [GRCh38]
ChrX:149761140 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq27.3-28(chrX:145728205-150464413)x1 copy number loss Mucopolysaccharidosis, MPS-II [RCV001733885] ChrX:145728205..150464413 [GRCh38]
ChrX:Xq27.3-28		 pathogenic
NM_000252.3(MTM1):c.342+3A>T single nucleotide variant not provided [RCV001754110] ChrX:150614702 [GRCh38]
ChrX:149783175 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.971_972dup (p.Lys325Ter) duplication not provided [RCV003489390] ChrX:150649817..150649818 [GRCh38]
ChrX:149818290..149818291 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000252.3(MTM1):c.1107T>A (p.Ser369Arg) single nucleotide variant Severe X-linked myotubular myopathy [RCV001868460]|not provided [RCV001757062] ChrX:150657874 [GRCh38]
ChrX:149826347 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.232-16T>G single nucleotide variant not provided [RCV001817672] ChrX:150614573 [GRCh38]
ChrX:149783046 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000252.3(MTM1):c.1228G>T (p.Glu410Ter) single nucleotide variant not provided [RCV001817707] ChrX:150657995 [GRCh38]
ChrX:149826468 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.197C>T (p.Thr66Ile) single nucleotide variant not provided [RCV001817675] ChrX:150598652 [GRCh38]
ChrX:149767116 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.1228G>C (p.Glu410Gln) single nucleotide variant not specified [RCV001817777] ChrX:150657995 [GRCh38]
ChrX:149826468 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.1109C>G (p.Ser370Ter) single nucleotide variant not provided [RCV001822841] ChrX:150657876 [GRCh38]
ChrX:149826349 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV001834509] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_000252.3(MTM1):c.885T>C (p.Tyr295=) single nucleotide variant Severe X-linked myotubular myopathy [RCV001949587] ChrX:150649733 [GRCh38]
ChrX:149818206 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.898G>A (p.Ala300Thr) single nucleotide variant Severe X-linked myotubular myopathy [RCV002008244] ChrX:150649746 [GRCh38]
ChrX:149818219 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.679-10T>G single nucleotide variant Severe X-linked myotubular myopathy [RCV001891857] ChrX:150645673 [GRCh38]
ChrX:149814146 [GRCh37]
ChrX:Xq28		 likely benign|uncertain significance
NM_000252.3(MTM1):c.206G>A (p.Arg69His) single nucleotide variant Severe X-linked myotubular myopathy [RCV001896628] ChrX:150598661 [GRCh38]
ChrX:149767125 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.548G>A (p.Trp183Ter) single nucleotide variant Severe X-linked myotubular myopathy [RCV001914795] ChrX:150641288 [GRCh38]
ChrX:149809761 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.819_820dup (p.Leu274fs) duplication Severe X-linked myotubular myopathy [RCV001864577] ChrX:150645822..150645823 [GRCh38]
ChrX:149814295..149814296 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq27.3-28(chrX:146752853-150192253) copy number loss not specified [RCV002053195] ChrX:146752853..150192253 [GRCh37]
ChrX:Xq27.3-28		 pathogenic
NM_000252.3(MTM1):c.1008_1009dup (p.Trp337fs) duplication Severe X-linked myotubular myopathy [RCV001949418] ChrX:150649855..150649856 [GRCh38]
ChrX:149818328..149818329 [GRCh37]
ChrX:Xq28		 pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV001839062] ChrX:140888048..154656872 [GRCh38]
ChrX:Xq27.1-28		 pathogenic
NM_000252.3(MTM1):c.310G>T (p.Glu104Ter) single nucleotide variant Severe X-linked myotubular myopathy [RCV001872566] ChrX:150614667 [GRCh38]
ChrX:149783140 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.619C>T (p.Arg207Cys) single nucleotide variant Severe X-linked myotubular myopathy [RCV001928247] ChrX:150641359 [GRCh38]
ChrX:149809832 [GRCh37]
ChrX:Xq28		 likely benign|uncertain significance
NM_000252.3(MTM1):c.1084G>C (p.Asp362His) single nucleotide variant Severe X-linked myotubular myopathy [RCV001968274] ChrX:150657851 [GRCh38]
ChrX:149826324 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.727A>G (p.Ser243Gly) single nucleotide variant Severe X-linked myotubular myopathy [RCV001892098] ChrX:150645731 [GRCh38]
ChrX:149814204 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.1709G>A (p.Arg570Gln) single nucleotide variant Severe X-linked myotubular myopathy [RCV002005039] ChrX:150671492 [GRCh38]
ChrX:149839965 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain not provided [RCV001829212] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_000252.3(MTM1):c.646G>A (p.Val216Ile) single nucleotide variant Severe X-linked myotubular myopathy [RCV001945574] ChrX:150641386 [GRCh38]
ChrX:149809859 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.544C>T (p.His182Tyr) single nucleotide variant Severe X-linked myotubular myopathy [RCV001961655] ChrX:150641284 [GRCh38]
ChrX:149809757 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.1529A>G (p.Lys510Arg) single nucleotide variant Severe X-linked myotubular myopathy [RCV001989905] ChrX:150663494 [GRCh38]
ChrX:149831967 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.1561G>A (p.Val521Ile) single nucleotide variant Severe X-linked myotubular myopathy [RCV002017834] ChrX:150663526 [GRCh38]
ChrX:149831999 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.989C>T (p.Pro330Leu) single nucleotide variant Severe X-linked myotubular myopathy [RCV001959409] ChrX:150649837 [GRCh38]
ChrX:149818310 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.905A>G (p.His302Arg) single nucleotide variant Severe X-linked myotubular myopathy [RCV001884136] ChrX:150649753 [GRCh38]
ChrX:149818226 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.913G>C (p.Glu305Gln) single nucleotide variant Severe X-linked myotubular myopathy [RCV001999262] ChrX:150649761 [GRCh38]
ChrX:149818234 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.944A>G (p.His315Arg) single nucleotide variant Severe X-linked myotubular myopathy [RCV002037305] ChrX:150649792 [GRCh38]
ChrX:149818265 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.343-1G>A single nucleotide variant Severe X-linked myotubular myopathy [RCV002038733] ChrX:150619037 [GRCh38]
ChrX:149787510 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000252.3(MTM1):c.946G>A (p.Val316Ile) single nucleotide variant Severe X-linked myotubular myopathy [RCV002001107] ChrX:150649794 [GRCh38]
ChrX:149818267 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.278T>C (p.Ile93Thr) single nucleotide variant Severe X-linked myotubular myopathy [RCV001898303] ChrX:150614635 [GRCh38]
ChrX:149783108 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.553A>T (p.Ile185Leu) single nucleotide variant Severe X-linked myotubular myopathy [RCV002047583] ChrX:150641293 [GRCh38]
ChrX:149809766 [GRCh37]
ChrX:Xq28		 uncertain significance
NC_000023.10:g.(?_149761067)_(149761149_?)del deletion Severe X-linked myotubular myopathy [RCV001972609] ChrX:149761067..149761149 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.1525T>C (p.Phe509Leu) single nucleotide variant Severe X-linked myotubular myopathy [RCV002014306] ChrX:150663490 [GRCh38]
ChrX:149831963 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.821T>G (p.Leu274Arg) single nucleotide variant Severe X-linked myotubular myopathy [RCV001923121] ChrX:150645825 [GRCh38]
ChrX:149814298 [GRCh37]
ChrX:Xq28		 uncertain significance
NC_000023.10:g.(?_149807406)_(149814354_?)dup duplication Severe X-linked myotubular myopathy [RCV001930354] ChrX:149807406..149814354 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.1546A>G (p.Lys516Glu) single nucleotide variant Severe X-linked myotubular myopathy [RCV001918128] ChrX:150663511 [GRCh38]
ChrX:149831984 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.590C>T (p.Thr197Ile) single nucleotide variant Severe X-linked myotubular myopathy [RCV001975126] ChrX:150641330 [GRCh38]
ChrX:149809803 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.258T>C (p.Pro86=) single nucleotide variant Severe X-linked myotubular myopathy [RCV002125320] ChrX:150614615 [GRCh38]
ChrX:149783088 [GRCh37]
ChrX:Xq28		 benign
NM_000252.3(MTM1):c.343-12C>T single nucleotide variant Severe X-linked myotubular myopathy [RCV002084798] ChrX:150619026 [GRCh38]
ChrX:149787499 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.153C>T (p.Tyr51=) single nucleotide variant Severe X-linked myotubular myopathy [RCV002169104] ChrX:150598608 [GRCh38]
ChrX:149767072 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1353+7A>C single nucleotide variant Severe X-linked myotubular myopathy [RCV002147954] ChrX:150659763 [GRCh38]
ChrX:149828236 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1761T>G (p.Thr587=) single nucleotide variant Severe X-linked myotubular myopathy [RCV002088834] ChrX:150671544 [GRCh38]
ChrX:149840017 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1740C>G (p.Ala580=) single nucleotide variant Severe X-linked myotubular myopathy [RCV002112427] ChrX:150671523 [GRCh38]
ChrX:149839996 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1678C>T (p.Leu560Phe) single nucleotide variant Severe X-linked myotubular myopathy [RCV002205925] ChrX:150671461 [GRCh38]
ChrX:149839934 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1501C>T (p.Leu501=) single nucleotide variant Severe X-linked myotubular myopathy [RCV002128464] ChrX:150663466 [GRCh38]
ChrX:149831939 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1449A>G (p.Glu483=) single nucleotide variant Severe X-linked myotubular myopathy [RCV002072570] ChrX:150660466 [GRCh38]
ChrX:149828939 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1122T>C (p.His374=) single nucleotide variant Severe X-linked myotubular myopathy [RCV002209458] ChrX:150657889 [GRCh38]
ChrX:149826362 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1468-8C>T single nucleotide variant Severe X-linked myotubular myopathy [RCV002208153] ChrX:150663425 [GRCh38]
ChrX:149831898 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.136+7A>T single nucleotide variant Severe X-linked myotubular myopathy [RCV002088540] ChrX:150596577 [GRCh38]
ChrX:149765041 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1558C>A (p.Arg520=) single nucleotide variant Severe X-linked myotubular myopathy [RCV002087372] ChrX:150663523 [GRCh38]
ChrX:149831996 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1354-7del deletion Severe X-linked myotubular myopathy [RCV002148244] ChrX:150660360 [GRCh38]
ChrX:149828833 [GRCh37]
ChrX:Xq28		 benign
NM_000252.3(MTM1):c.171C>A (p.Gly57=) single nucleotide variant Severe X-linked myotubular myopathy [RCV002087722] ChrX:150598626 [GRCh38]
ChrX:149767090 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1209C>T (p.Phe403=) single nucleotide variant Severe X-linked myotubular myopathy [RCV002127266] ChrX:150657976 [GRCh38]
ChrX:149826449 [GRCh37]
ChrX:Xq28		 benign
NM_000252.3(MTM1):c.717T>C (p.Ile239=) single nucleotide variant Severe X-linked myotubular myopathy [RCV002080578] ChrX:150645721 [GRCh38]
ChrX:149814194 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.678+19G>A single nucleotide variant Severe X-linked myotubular myopathy [RCV002109668] ChrX:150641437 [GRCh38]
ChrX:149809910 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.813T>C (p.Ile271=) single nucleotide variant Severe X-linked myotubular myopathy [RCV002169349] ChrX:150645817 [GRCh38]
ChrX:149814290 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.285A>G (p.Lys95=) single nucleotide variant Severe X-linked myotubular myopathy [RCV002150443] ChrX:150614642 [GRCh38]
ChrX:149783115 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1485T>A (p.Thr495=) single nucleotide variant Severe X-linked myotubular myopathy [RCV002144869] ChrX:150663450 [GRCh38]
ChrX:149831923 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.678+7A>G single nucleotide variant Severe X-linked myotubular myopathy [RCV002133474] ChrX:150641425 [GRCh38]
ChrX:149809898 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.232-8C>T single nucleotide variant Severe X-linked myotubular myopathy [RCV002166428] ChrX:150614581 [GRCh38]
ChrX:149783054 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.445-17T>G single nucleotide variant Severe X-linked myotubular myopathy [RCV002096553] ChrX:150638926 [GRCh38]
ChrX:149807399 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1521A>G (p.Glu507=) single nucleotide variant Severe X-linked myotubular myopathy [RCV002073948] ChrX:150663486 [GRCh38]
ChrX:149831959 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1196G>A (p.Ser399Asn) single nucleotide variant Severe X-linked myotubular myopathy [RCV002128806] ChrX:150657963 [GRCh38]
ChrX:149826436 [GRCh37]
ChrX:Xq28		 benign
NM_000252.3(MTM1):c.1551A>G (p.Glu517=) single nucleotide variant Severe X-linked myotubular myopathy [RCV002150970] ChrX:150663516 [GRCh38]
ChrX:149831989 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.231+10A>G single nucleotide variant Severe X-linked myotubular myopathy [RCV002109578] ChrX:150598696 [GRCh38]
ChrX:149767160 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1722G>A (p.Leu574=) single nucleotide variant Severe X-linked myotubular myopathy [RCV002130746] ChrX:150671505 [GRCh38]
ChrX:149839978 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.343-3dup duplication Severe X-linked myotubular myopathy [RCV002173653] ChrX:150619030..150619031 [GRCh38]
ChrX:149787503..149787504 [GRCh37]
ChrX:Xq28		 benign
NM_000252.3(MTM1):c.444+12T>C single nucleotide variant Severe X-linked myotubular myopathy [RCV002132595] ChrX:150619151 [GRCh38]
ChrX:149787624 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1566A>G (p.Leu522=) single nucleotide variant Severe X-linked myotubular myopathy [RCV002212748] ChrX:150663531 [GRCh38]
ChrX:149832004 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1719A>G (p.Glu573=) single nucleotide variant Severe X-linked myotubular myopathy [RCV002096781] ChrX:150671502 [GRCh38]
ChrX:149839975 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.868-9del deletion Severe X-linked myotubular myopathy [RCV002096785] ChrX:150649707 [GRCh38]
ChrX:149818180 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.501C>T (p.Tyr167=) single nucleotide variant Severe X-linked myotubular myopathy [RCV002093089] ChrX:150638999 [GRCh38]
ChrX:149807472 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1261-6A>G single nucleotide variant Severe X-linked myotubular myopathy [RCV002170923] ChrX:150659658 [GRCh38]
ChrX:149828131 [GRCh37]
ChrX:Xq28		 benign
NM_000252.3(MTM1):c.519C>T (p.Tyr173=) single nucleotide variant Severe X-linked myotubular myopathy [RCV002097041] ChrX:150639017 [GRCh38]
ChrX:149807490 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.345C>T (p.Asp115=) single nucleotide variant Severe X-linked myotubular myopathy [RCV002072521] ChrX:150619040 [GRCh38]
ChrX:149787513 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.909C>T (p.Asn303=) single nucleotide variant Severe X-linked myotubular myopathy [RCV002121223] ChrX:150649757 [GRCh38]
ChrX:149818230 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.528+17T>A single nucleotide variant Severe X-linked myotubular myopathy [RCV002139352] ChrX:150639043 [GRCh38]
ChrX:149807516 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.868-9_868-7del microsatellite Severe X-linked myotubular myopathy [RCV002177295] ChrX:150649703..150649705 [GRCh38]
ChrX:149818176..149818178 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.867+8G>A single nucleotide variant Severe X-linked myotubular myopathy [RCV002136030] ChrX:150645879 [GRCh38]
ChrX:149814352 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.576T>C (p.Tyr192=) single nucleotide variant Severe X-linked myotubular myopathy [RCV002177055] ChrX:150641316 [GRCh38]
ChrX:149809789 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.710C>T (p.Thr237Met) single nucleotide variant Severe X-linked myotubular myopathy [RCV002204581] ChrX:150645714 [GRCh38]
ChrX:149814187 [GRCh37]
ChrX:Xq28		 benign
NM_000252.3(MTM1):c.272C>T (p.Ser91Leu) single nucleotide variant Severe X-linked myotubular myopathy [RCV002182529] ChrX:150614629 [GRCh38]
ChrX:149783102 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1503G>C (p.Leu501=) single nucleotide variant Severe X-linked myotubular myopathy [RCV002157535] ChrX:150663468 [GRCh38]
ChrX:149831941 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.603T>C (p.Leu201=) single nucleotide variant Severe X-linked myotubular myopathy [RCV002102131] ChrX:150641343 [GRCh38]
ChrX:149809816 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.126A>G (p.Thr42=) single nucleotide variant Severe X-linked myotubular myopathy [RCV002202998] ChrX:150596560 [GRCh38]
ChrX:149765024 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1245A>G (p.Gly415=) single nucleotide variant Severe X-linked myotubular myopathy [RCV002203380] ChrX:150658012 [GRCh38]
ChrX:149826485 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1468-11TC[2] microsatellite Severe X-linked myotubular myopathy [RCV002120945] ChrX:150663422..150663423 [GRCh38]
ChrX:149831895..149831896 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.868-9G>T single nucleotide variant Severe X-linked myotubular myopathy [RCV002199391] ChrX:150649707 [GRCh38]
ChrX:149818180 [GRCh37]
ChrX:Xq28		 benign
NM_000252.3(MTM1):c.444+15T>C single nucleotide variant Severe X-linked myotubular myopathy [RCV003113022] ChrX:150619154 [GRCh38]
ChrX:149787627 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.342+9T>G single nucleotide variant Severe X-linked myotubular myopathy [RCV003115769] ChrX:150614708 [GRCh38]
ChrX:149783181 [GRCh37]
ChrX:Xq28		 likely benign
NC_000023.10:g.(?_149613783)_(150573536_?)del deletion Severe X-linked myotubular myopathy [RCV003122263]|X-linked myopathy with excessive autophagy [RCV003122264] ChrX:149613783..150573536 [GRCh37]
ChrX:Xq28		 pathogenic|uncertain significance
NC_000023.10:g.(?_149613783)_(149840068_?)dup duplication Severe X-linked myotubular myopathy [RCV003122265] ChrX:149613783..149840068 [GRCh37]
ChrX:Xq28		 uncertain significance
NC_000023.10:g.(?_149818176)_(149818384_?)del deletion Severe X-linked myotubular myopathy [RCV003122266] ChrX:149818176..149818384 [GRCh37]
ChrX:Xq28		 likely pathogenic
NC_000023.10:g.(?_149761077)_(149787632_?)dup duplication Severe X-linked myotubular myopathy [RCV003122267] ChrX:149761077..149787632 [GRCh37]
ChrX:Xq28		 uncertain significance
NC_000023.10:g.(?_149761093)_(149767213_?)del deletion Severe X-linked myotubular myopathy [RCV003122269] ChrX:149761093..149767213 [GRCh37]
ChrX:Xq28		 likely pathogenic
NC_000023.10:g.(?_149613783)_(150573536_?)dup duplication X-linked myopathy with excessive autophagy [RCV003122301] ChrX:149613783..150573536 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq28(chrX:149761077-149818374) copy number loss Severe X-linked myotubular myopathy [RCV003236719] ChrX:149761077..149818374 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731) copy number loss Turner syndrome [RCV002280672] ChrX:62685885..155233731 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
GRCh37/hg19 Xq27.3-28(chrX:142401540-155233731)x1 copy number loss See cases [RCV002292203] ChrX:142401540..155233731 [GRCh37]
ChrX:Xq27.3-28		 pathogenic
NM_000252.3(MTM1):c.100del (p.Ala34fs) deletion Severe X-linked myotubular myopathy [RCV002290209] ChrX:150596533 [GRCh38]
ChrX:149764997 [GRCh37]
ChrX:Xq28		 likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2 copy number gain Klinefelter syndrome [RCV002282732] ChrX:61545..155226048 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1 copy number loss See cases [RCV002286357] ChrX:11522765..155233731 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
NM_000252.3(MTM1):c.770A>G (p.Asp257Gly) single nucleotide variant Severe X-linked myotubular myopathy [RCV002290051] ChrX:150645774 [GRCh38]
ChrX:149814247 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.679-2A>C single nucleotide variant Severe X-linked myotubular myopathy [RCV002289425] ChrX:150645681 [GRCh38]
ChrX:149814154 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000252.3(MTM1):c.414_421dup (p.Ala141fs) duplication Severe X-linked myotubular myopathy [RCV002281652] ChrX:150619108..150619109 [GRCh38]
ChrX:149787581..149787582 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000252.3(MTM1):c.326T>C (p.Leu109Pro) single nucleotide variant Severe X-linked myotubular myopathy [RCV002262179] ChrX:150614683 [GRCh38]
ChrX:149783156 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000252.3(MTM1):c.562A>C (p.Ile188Leu) single nucleotide variant Severe X-linked myotubular myopathy [RCV002297702] ChrX:150641302 [GRCh38]
ChrX:149809775 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq25-28(chrX:124749464-155233731)x1 copy number loss not provided [RCV002474567] ChrX:124749464..155233731 [GRCh37]
ChrX:Xq25-28		 pathogenic
NM_000252.3(MTM1):c.1205G>T (p.Gly402Val) single nucleotide variant Severe X-linked myotubular myopathy [RCV002470596] ChrX:150657972 [GRCh38]
ChrX:149826445 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.405_408delinsTT (p.Glu135fs) indel Severe X-linked myotubular myopathy [RCV002306558] ChrX:150619100..150619103 [GRCh38]
ChrX:149787573..149787576 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000252.3(MTM1):c.550A>T (p.Arg184Ter) single nucleotide variant Severe X-linked myotubular myopathy [RCV002307949] ChrX:150641290 [GRCh38]
ChrX:149809763 [GRCh37]
ChrX:Xq28		 likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074) copy number gain Klinefelter syndrome [RCV003236730] ChrX:200855..155240074 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_000252.3(MTM1):c.763A>T (p.Lys255Ter) single nucleotide variant Severe X-linked myotubular myopathy [RCV002309311] ChrX:150645767 [GRCh38]
ChrX:149814240 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000252.3(MTM1):c.1423T>C (p.Phe475Leu) single nucleotide variant Severe X-linked myotubular myopathy [RCV002298218] ChrX:150660440 [GRCh38]
ChrX:149828913 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.1022T>A (p.Leu341Ter) single nucleotide variant Severe X-linked myotubular myopathy [RCV002309515] ChrX:150649870 [GRCh38]
ChrX:149818343 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000252.3(MTM1):c.350_351del (p.Arg117fs) microsatellite Severe X-linked myotubular myopathy [RCV002306567] ChrX:150619043..150619044 [GRCh38]
ChrX:149787516..149787517 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000252.3(MTM1):c.302_303del (p.Ser101fs) deletion Severe X-linked myotubular myopathy [RCV002308372] ChrX:150614659..150614660 [GRCh38]
ChrX:149783132..149783133 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000252.3(MTM1):c.294C>T (p.Gly98=) single nucleotide variant Inborn genetic diseases [RCV002441841]|Severe X-linked myotubular myopathy [RCV003102912] ChrX:150614651 [GRCh38]
ChrX:149783124 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.730_731del (p.Gln244fs) deletion Severe X-linked myotubular myopathy [RCV002306880] ChrX:150645734..150645735 [GRCh38]
ChrX:149814207..149814208 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000252.3(MTM1):c.935_936insACTGTCTC (p.His312fs) insertion Severe X-linked myotubular myopathy [RCV002307199] ChrX:150649783..150649784 [GRCh38]
ChrX:149818256..149818257 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000252.3(MTM1):c.925_926del (p.Leu309fs) deletion Severe X-linked myotubular myopathy [RCV002309649] ChrX:150649773..150649774 [GRCh38]
ChrX:149818246..149818247 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000252.3(MTM1):c.1195_1199delinsTGC (p.Ser399fs) indel Severe X-linked myotubular myopathy [RCV002309889] ChrX:150657962..150657966 [GRCh38]
ChrX:149826435..149826439 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000252.3(MTM1):c.1319del (p.Gln440fs) deletion Severe X-linked myotubular myopathy [RCV002308014] ChrX:150659722 [GRCh38]
ChrX:149828195 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000252.3(MTM1):c.1153_1156delinsTGT (p.Leu385fs) indel Severe X-linked myotubular myopathy [RCV002306552] ChrX:150657920..150657923 [GRCh38]
ChrX:149826393..149826396 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000252.3(MTM1):c.1057_1058insACGA (p.Val353fs) insertion Severe X-linked myotubular myopathy [RCV002310443] ChrX:150657824..150657825 [GRCh38]
ChrX:149826297..149826298 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000252.3(MTM1):c.1045_1046insCCCCT (p.His349fs) insertion Severe X-linked myotubular myopathy [RCV002306596] ChrX:150649893..150649894 [GRCh38]
ChrX:149818366..149818367 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000252.3(MTM1):c.1011G>A (p.Trp337Ter) single nucleotide variant Severe X-linked myotubular myopathy [RCV002306487] ChrX:150649859 [GRCh38]
ChrX:149818332 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000252.3(MTM1):c.1116del (p.Val373fs) deletion Severe X-linked myotubular myopathy [RCV002881504] ChrX:150657882 [GRCh38]
ChrX:149826355 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.1260+10C>T single nucleotide variant Severe X-linked myotubular myopathy [RCV003074078] ChrX:150658037 [GRCh38]
ChrX:149826510 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.495A>G (p.Thr165=) single nucleotide variant Severe X-linked myotubular myopathy [RCV002909002] ChrX:150638993 [GRCh38]
ChrX:149807466 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.678+5G>A single nucleotide variant Severe X-linked myotubular myopathy [RCV002975626] ChrX:150641423 [GRCh38]
ChrX:149809896 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.335C>G (p.Thr112Ser) single nucleotide variant Severe X-linked myotubular myopathy [RCV003097575] ChrX:150614692 [GRCh38]
ChrX:149783165 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.1468-21TC[2] microsatellite Severe X-linked myotubular myopathy [RCV002903168] ChrX:150663412..150663415 [GRCh38]
ChrX:149831885..149831888 [GRCh37]
ChrX:Xq28		 benign
NM_000252.3(MTM1):c.679-22_679-17del deletion Severe X-linked myotubular myopathy [RCV002751121] ChrX:150645658..150645663 [GRCh38]
ChrX:149814131..149814136 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1644+19T>G single nucleotide variant Severe X-linked myotubular myopathy [RCV003034097] ChrX:150663628 [GRCh38]
ChrX:149832101 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1733A>C (p.Asn578Thr) single nucleotide variant Severe X-linked myotubular myopathy [RCV002843227] ChrX:150671516 [GRCh38]
ChrX:149839989 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.1261-10A>C single nucleotide variant Severe X-linked myotubular myopathy [RCV003097503] ChrX:150659654 [GRCh38]
ChrX:149828127 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.678+9T>C single nucleotide variant Severe X-linked myotubular myopathy [RCV003034399] ChrX:150641427 [GRCh38]
ChrX:149809900 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1811del (p.Phe603_Ter604insTer) deletion Severe X-linked myotubular myopathy [RCV002825327] ChrX:150671594 [GRCh38]
ChrX:149840067 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1627C>T (p.Pro543Ser) single nucleotide variant Severe X-linked myotubular myopathy [RCV002569845] ChrX:150663592 [GRCh38]
ChrX:149832065 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.1467+24dup duplication Severe X-linked myotubular myopathy [RCV002696324] ChrX:150660500..150660501 [GRCh38]
ChrX:149828973..149828974 [GRCh37]
ChrX:Xq28		 benign
NM_000252.3(MTM1):c.214T>C (p.Leu72=) single nucleotide variant Severe X-linked myotubular myopathy [RCV003022111] ChrX:150598669 [GRCh38]
ChrX:149767133 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1260+15C>G single nucleotide variant Severe X-linked myotubular myopathy [RCV003020017] ChrX:150658042 [GRCh38]
ChrX:149826515 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.375G>A (p.Gln125=) single nucleotide variant Severe X-linked myotubular myopathy [RCV002949035] ChrX:150619070 [GRCh38]
ChrX:149787543 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.295G>A (p.Ala99Thr) single nucleotide variant Severe X-linked myotubular myopathy [RCV003019237] ChrX:150614652 [GRCh38]
ChrX:149783125 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.1596A>G (p.Glu532=) single nucleotide variant Severe X-linked myotubular myopathy [RCV003036577] ChrX:150663561 [GRCh38]
ChrX:149832034 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1680C>G (p.Leu560=) single nucleotide variant Severe X-linked myotubular myopathy [RCV002847183] ChrX:150671463 [GRCh38]
ChrX:149839936 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.21T>G (p.Ser7=) single nucleotide variant Severe X-linked myotubular myopathy [RCV002913943] ChrX:150592635 [GRCh38]
ChrX:149761097 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1153C>T (p.Leu385=) single nucleotide variant Severe X-linked myotubular myopathy [RCV002949640] ChrX:150657920 [GRCh38]
ChrX:149826393 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1389G>T (p.Leu463Phe) single nucleotide variant Severe X-linked myotubular myopathy [RCV003002440]|not provided [RCV003491186] ChrX:150660406 [GRCh38]
ChrX:149828879 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.296C>T (p.Ala99Val) single nucleotide variant Severe X-linked myotubular myopathy [RCV002622621] ChrX:150614653 [GRCh38]
ChrX:149783126 [GRCh37]
ChrX:Xq28		 benign
NM_000252.3(MTM1):c.32C>T (p.Ser11Leu) single nucleotide variant Severe X-linked myotubular myopathy [RCV003078588] ChrX:150592646 [GRCh38]
ChrX:149761108 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.1573G>T (p.Val525Phe) single nucleotide variant Severe X-linked myotubular myopathy [RCV003038468] ChrX:150663538 [GRCh38]
ChrX:149832011 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.900A>G (p.Ala300=) single nucleotide variant Severe X-linked myotubular myopathy [RCV002569471] ChrX:150649748 [GRCh38]
ChrX:149818221 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.834T>C (p.Asp278=) single nucleotide variant Severe X-linked myotubular myopathy [RCV002870974] ChrX:150645838 [GRCh38]
ChrX:149814311 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.359G>A (p.Arg120Lys) single nucleotide variant Severe X-linked myotubular myopathy [RCV002700863] ChrX:150619054 [GRCh38]
ChrX:149787527 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.223T>C (p.Leu75=) single nucleotide variant Severe X-linked myotubular myopathy [RCV003007475] ChrX:150598678 [GRCh38]
ChrX:149767142 [GRCh37]
ChrX:Xq28		 benign
NM_000252.3(MTM1):c.232G>C (p.Asp78His) single nucleotide variant Severe X-linked myotubular myopathy [RCV002741628] ChrX:150614589 [GRCh38]
ChrX:149783062 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.678+18C>T single nucleotide variant Severe X-linked myotubular myopathy [RCV002928230] ChrX:150641436 [GRCh38]
ChrX:149809909 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1632G>A (p.Arg544=) single nucleotide variant Severe X-linked myotubular myopathy [RCV002626222] ChrX:150663597 [GRCh38]
ChrX:149832070 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1419C>T (p.Cys473=) single nucleotide variant Severe X-linked myotubular myopathy [RCV003085583] ChrX:150660436 [GRCh38]
ChrX:149828909 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.745A>G (p.Met249Val) single nucleotide variant Severe X-linked myotubular myopathy [RCV002914882] ChrX:150645749 [GRCh38]
ChrX:149814222 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.336T>A (p.Thr112=) single nucleotide variant Severe X-linked myotubular myopathy [RCV003085743] ChrX:150614693 [GRCh38]
ChrX:149783166 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.456A>G (p.Ala152=) single nucleotide variant Severe X-linked myotubular myopathy [RCV002917924] ChrX:150638954 [GRCh38]
ChrX:149807427 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1791C>G (p.Pro597=) single nucleotide variant Severe X-linked myotubular myopathy [RCV003005773] ChrX:150671574 [GRCh38]
ChrX:149840047 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.641G>A (p.Arg214Gln) single nucleotide variant Severe X-linked myotubular myopathy [RCV003041266] ChrX:150641381 [GRCh38]
ChrX:149809854 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.1759A>G (p.Thr587Ala) single nucleotide variant Severe X-linked myotubular myopathy [RCV003060338] ChrX:150671542 [GRCh38]
ChrX:149840015 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.180G>A (p.Lys60=) single nucleotide variant Severe X-linked myotubular myopathy [RCV002650048] ChrX:150598635 [GRCh38]
ChrX:149767099 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1405C>G (p.His469Asp) single nucleotide variant Severe X-linked myotubular myopathy [RCV003065806]|not specified [RCV003331427] ChrX:150660422 [GRCh38]
ChrX:149828895 [GRCh37]
ChrX:Xq28		 likely pathogenic|uncertain significance
NM_000252.3(MTM1):c.137-18del deletion Severe X-linked myotubular myopathy [RCV002938339] ChrX:150598574 [GRCh38]
ChrX:149767038 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.445-20T>C single nucleotide variant Severe X-linked myotubular myopathy [RCV003029586] ChrX:150638923 [GRCh38]
ChrX:149807396 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.963A>T (p.Leu321Phe) single nucleotide variant Severe X-linked myotubular myopathy [RCV002646173] ChrX:150649811 [GRCh38]
ChrX:149818284 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.136+5G>A single nucleotide variant Severe X-linked myotubular myopathy [RCV002579298] ChrX:150596575 [GRCh38]
ChrX:149765039 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.444+2T>A single nucleotide variant Severe X-linked myotubular myopathy [RCV002856710] ChrX:150619141 [GRCh38]
ChrX:149787614 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000252.3(MTM1):c.1269T>A (p.Gly423=) single nucleotide variant Severe X-linked myotubular myopathy [RCV003009816] ChrX:150659672 [GRCh38]
ChrX:149828145 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1783A>G (p.Met595Val) single nucleotide variant Inborn genetic diseases [RCV002961353] ChrX:150671566 [GRCh38]
ChrX:149840039 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.2T>C (p.Met1Thr) single nucleotide variant Severe X-linked myotubular myopathy [RCV002716544] ChrX:150592616 [GRCh38]
ChrX:149761078 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.629A>T (p.Asp210Val) single nucleotide variant Severe X-linked myotubular myopathy [RCV002834198] ChrX:150641369 [GRCh38]
ChrX:149809842 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.363C>T (p.Phe121=) single nucleotide variant Severe X-linked myotubular myopathy [RCV003089592] ChrX:150619058 [GRCh38]
ChrX:149787531 [GRCh37]
ChrX:Xq28		 benign
NM_000252.3(MTM1):c.71G>A (p.Arg24Gln) single nucleotide variant Severe X-linked myotubular myopathy [RCV002933641] ChrX:150596505 [GRCh38]
ChrX:149764969 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.387C>T (p.Ser129=) single nucleotide variant Severe X-linked myotubular myopathy [RCV002900644] ChrX:150619082 [GRCh38]
ChrX:149787555 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1475C>T (p.Thr492Ile) single nucleotide variant Severe X-linked myotubular myopathy [RCV002602305]|not provided [RCV003434578] ChrX:150663440 [GRCh38]
ChrX:149831913 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.1778C>T (p.Ser593Leu) single nucleotide variant Severe X-linked myotubular myopathy [RCV003066961] ChrX:150671561 [GRCh38]
ChrX:149840034 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.867+2T>A single nucleotide variant Severe X-linked myotubular myopathy [RCV003050665] ChrX:150645873 [GRCh38]
ChrX:149814346 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.102T>C (p.Ala34=) single nucleotide variant Severe X-linked myotubular myopathy [RCV002653697] ChrX:150596536 [GRCh38]
ChrX:149765000 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1509_1510del (p.Asn503fs) deletion Severe X-linked myotubular myopathy [RCV003050666] ChrX:150663473..150663474 [GRCh38]
ChrX:149831946..149831947 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.1645-14_1645-13del microsatellite Severe X-linked myotubular myopathy [RCV003068993] ChrX:150671411..150671412 [GRCh38]
ChrX:149839884..149839885 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1149T>C (p.Ala383=) single nucleotide variant Severe X-linked myotubular myopathy [RCV003071340] ChrX:150657916 [GRCh38]
ChrX:149826389 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.800C>T (p.Thr267Ile) single nucleotide variant Severe X-linked myotubular myopathy [RCV003066869]|not provided [RCV003491214] ChrX:150645804 [GRCh38]
ChrX:149814277 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.990T>C (p.Pro330=) single nucleotide variant Severe X-linked myotubular myopathy [RCV003070063] ChrX:150649838 [GRCh38]
ChrX:149818311 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.528+1G>A single nucleotide variant Severe X-linked myotubular myopathy [RCV003050663] ChrX:150639027 [GRCh38]
ChrX:149807500 [GRCh37]
ChrX:Xq28		 pathogenic
NC_000023.11:g.150649717_150649723del deletion Severe X-linked myotubular myopathy [RCV003224768] ChrX:150649714..150649720 [GRCh38]
ChrX:149818187..149818193 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000252.2(MTM1):c.-76_-11del deletion Severe X-linked myotubular myopathy [RCV003225693] ChrX:150568597..150568662 [GRCh38]
ChrX:149737047..149737112 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.136+172T>C single nucleotide variant Severe X-linked myotubular myopathy [RCV003226051] ChrX:150596742 [GRCh38]
ChrX:149765206 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh38/hg38 Xq28(chrX:150592508-150619237)x0 copy number loss Severe X-linked myotubular myopathy [RCV003327666] ChrX:150592508..150619237 [GRCh38]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.1778C>A (p.Ser593Ter) single nucleotide variant Severe X-linked myotubular myopathy [RCV003461978] ChrX:150671561 [GRCh38]
ChrX:149840034 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000252.3(MTM1):c.1649C>T (p.Pro550Leu) single nucleotide variant Severe X-linked myotubular myopathy [RCV003874291] ChrX:150671432 [GRCh38]
ChrX:149839905 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq24-28(chrX:119071609-155233731)x1 copy number loss not provided [RCV003483930] ChrX:119071609..155233731 [GRCh37]
ChrX:Xq24-28		 pathogenic
GRCh37/hg19 Xq28(chrX:149650839-149937387)x1 copy number loss not provided [RCV003483937] ChrX:149650839..149937387 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.414G>A (p.Thr138=) single nucleotide variant Severe X-linked myotubular myopathy [RCV003880928] ChrX:150619109 [GRCh38]
ChrX:149787582 [GRCh37]
ChrX:Xq28		 benign
Single allele deletion not provided [RCV003448712] ChrX:149823254..149839805 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq28(chrX:148598351-154943978)x1 copy number loss not provided [RCV003483936] ChrX:148598351..154943978 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq24-28(chrX:118576752-155233731)x1 copy number loss not provided [RCV003483929] ChrX:118576752..155233731 [GRCh37]
ChrX:Xq24-28		 pathogenic
NM_000252.3(MTM1):c.1729G>T (p.Ala577Ser) single nucleotide variant not provided [RCV003488048] ChrX:150671512 [GRCh38]
ChrX:149839985 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.1468-2A>G single nucleotide variant Severe X-linked myotubular myopathy [RCV003461979] ChrX:150663431 [GRCh38]
ChrX:149831904 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000252.3(MTM1):c.1334T>C (p.Val445Ala) single nucleotide variant not provided [RCV003443825] ChrX:150659737 [GRCh38]
ChrX:149828210 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.1094C>T (p.Ser365Phe) single nucleotide variant MTM1-related condition [RCV003404555] ChrX:150657861 [GRCh38]
ChrX:149826334 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.1580G>A (p.Ser527Asn) single nucleotide variant MTM1-related condition [RCV003416865] ChrX:150663545 [GRCh38]
ChrX:149832018 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.782_783del (p.Leu261fs) microsatellite Severe X-linked myotubular myopathy [RCV003405151] ChrX:150645784..150645785 [GRCh38]
ChrX:149814257..149814258 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.231+2771A>G single nucleotide variant not provided [RCV003432515] ChrX:150601457 [GRCh38]
ChrX:149769921 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.1665G>A (p.Gln555=) single nucleotide variant Severe X-linked myotubular myopathy [RCV003506783] ChrX:150671448 [GRCh38]
ChrX:149839921 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1673T>C (p.Met558Thr) single nucleotide variant Severe X-linked myotubular myopathy [RCV003508717] ChrX:150671456 [GRCh38]
ChrX:149839929 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.843C>T (p.Pro281=) single nucleotide variant Severe X-linked myotubular myopathy [RCV003507195] ChrX:150645847 [GRCh38]
ChrX:149814320 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1728C>A (p.Leu576=) single nucleotide variant Severe X-linked myotubular myopathy [RCV003879603] ChrX:150671511 [GRCh38]
ChrX:149839984 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1575T>A (p.Val525=) single nucleotide variant Severe X-linked myotubular myopathy [RCV003508003] ChrX:150663540 [GRCh38]
ChrX:149832013 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.463A>T (p.Asn155Tyr) single nucleotide variant Severe X-linked myotubular myopathy [RCV003508200] ChrX:150638961 [GRCh38]
ChrX:149807434 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.232-12dup duplication Severe X-linked myotubular myopathy [RCV003508293] ChrX:150614572..150614573 [GRCh38]
ChrX:149783045..149783046 [GRCh37]
ChrX:Xq28		 benign
NM_000252.3(MTM1):c.27T>C (p.Tyr9=) single nucleotide variant Severe X-linked myotubular myopathy [RCV003508312] ChrX:150592641 [GRCh38]
ChrX:149761103 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.867+13_867+15del deletion Severe X-linked myotubular myopathy [RCV003508395] ChrX:150645883..150645885 [GRCh38]
ChrX:149814356..149814358 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.935A>G (p.His312Arg) single nucleotide variant not provided [RCV003488044] ChrX:150649783 [GRCh38]
ChrX:149818256 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.1174A>T (p.Met392Leu) single nucleotide variant not provided [RCV003488046] ChrX:150657941 [GRCh38]
ChrX:149826414 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.1644+18G>A single nucleotide variant Severe X-linked myotubular myopathy [RCV003508728] ChrX:150663627 [GRCh38]
ChrX:149832100 [GRCh37]
ChrX:Xq28		 benign
NM_000252.3(MTM1):c.129A>T (p.Leu43=) single nucleotide variant Severe X-linked myotubular myopathy [RCV003507055] ChrX:150596563 [GRCh38]
ChrX:149765027 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1053+20dup duplication Severe X-linked myotubular myopathy [RCV003508037] ChrX:150649917..150649918 [GRCh38]
ChrX:149818390..149818391 [GRCh37]
ChrX:Xq28		 benign
NM_000252.3(MTM1):c.787G>A (p.Val263Ile) single nucleotide variant Severe X-linked myotubular myopathy [RCV003508810] ChrX:150645791 [GRCh38]
ChrX:149814264 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.408C>T (p.Ile136=) single nucleotide variant Severe X-linked myotubular myopathy [RCV003508944] ChrX:150619103 [GRCh38]
ChrX:149787576 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.784G>A (p.Asp262Asn) single nucleotide variant Severe X-linked myotubular myopathy [RCV003508949] ChrX:150645788 [GRCh38]
ChrX:149814261 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1468-12G>C single nucleotide variant Severe X-linked myotubular myopathy [RCV003508964] ChrX:150663421 [GRCh38]
ChrX:149831894 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1329T>C (p.Asp443=) single nucleotide variant Severe X-linked myotubular myopathy [RCV003507984] ChrX:150659732 [GRCh38]
ChrX:149828205 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.528+18_528+22dup duplication Severe X-linked myotubular myopathy [RCV003880119] ChrX:150639042..150639043 [GRCh38]
ChrX:149807515..149807516 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.624C>T (p.Ala208=) single nucleotide variant Severe X-linked myotubular myopathy [RCV003508119] ChrX:150641364 [GRCh38]
ChrX:149809837 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1755C>A (p.Pro585=) single nucleotide variant Severe X-linked myotubular myopathy [RCV003506900] ChrX:150671538 [GRCh38]
ChrX:149840011 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.444+17T>C single nucleotide variant Severe X-linked myotubular myopathy [RCV003507613] ChrX:150619156 [GRCh38]
ChrX:149787629 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.678A>G (p.Pro226=) single nucleotide variant Severe X-linked myotubular myopathy [RCV003508473] ChrX:150641418 [GRCh38]
ChrX:149809891 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.1261-18C>G single nucleotide variant Severe X-linked myotubular myopathy [RCV003881196] ChrX:150659646 [GRCh38]
ChrX:149828119 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.465T>C (p.Asn155=) single nucleotide variant Severe X-linked myotubular myopathy [RCV003508515] ChrX:150638963 [GRCh38]
ChrX:149807436 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.343-16T>C single nucleotide variant Severe X-linked myotubular myopathy [RCV003508547] ChrX:150619022 [GRCh38]
ChrX:149787495 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1353+14G>A single nucleotide variant Severe X-linked myotubular myopathy [RCV003508640] ChrX:150659770 [GRCh38]
ChrX:149828243 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1645-13T>C single nucleotide variant Severe X-linked myotubular myopathy [RCV003508334] ChrX:150671415 [GRCh38]
ChrX:149839888 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.136+11G>C single nucleotide variant Severe X-linked myotubular myopathy [RCV003824828] ChrX:150596581 [GRCh38]
ChrX:149765045 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.27T>G (p.Tyr9Ter) single nucleotide variant Severe X-linked myotubular myopathy [RCV003507053] ChrX:150592641 [GRCh38]
ChrX:149761103 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.1340A>G (p.Gln447Arg) single nucleotide variant Severe X-linked myotubular myopathy [RCV003507515]|not provided [RCV003488043] ChrX:150659743 [GRCh38]
ChrX:149828216 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.413C>T (p.Thr138Met) single nucleotide variant not provided [RCV003488045] ChrX:150619108 [GRCh38]
ChrX:149787581 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.110G>A (p.Arg37Gln) single nucleotide variant not provided [RCV003488047] ChrX:150596544 [GRCh38]
ChrX:149765008 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.342+17T>C single nucleotide variant Severe X-linked myotubular myopathy [RCV003508630] ChrX:150614716 [GRCh38]
ChrX:149783189 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.444+19_444+21del microsatellite Severe X-linked myotubular myopathy [RCV003507606] ChrX:150619155..150619157 [GRCh38]
ChrX:149787628..149787630 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.396T>C (p.Asp132=) single nucleotide variant Severe X-linked myotubular myopathy [RCV003508806] ChrX:150619091 [GRCh38]
ChrX:149787564 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.271_272delinsAT (p.Ser91Met) indel Severe X-linked myotubular myopathy [RCV003618090]|not provided [RCV003488049] ChrX:150614628..150614629 [GRCh38]
ChrX:149783101..149783102 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.18T>A (p.Thr6=) single nucleotide variant Severe X-linked myotubular myopathy [RCV003508190] ChrX:150592632 [GRCh38]
ChrX:149761094 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.473del (p.Lys158fs) deletion Severe X-linked myotubular myopathy [RCV003508888] ChrX:150638968 [GRCh38]
ChrX:149807441 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.1261-20A>G single nucleotide variant Severe X-linked myotubular myopathy [RCV003508910] ChrX:150659644 [GRCh38]
ChrX:149828117 [GRCh37]
ChrX:Xq28		 benign
NM_000252.3(MTM1):c.868-14A>G single nucleotide variant Severe X-linked myotubular myopathy [RCV003506774] ChrX:150649702 [GRCh38]
ChrX:149818175 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1260+19T>C single nucleotide variant Severe X-linked myotubular myopathy [RCV003508424] ChrX:150658046 [GRCh38]
ChrX:149826519 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1353+9T>A single nucleotide variant Severe X-linked myotubular myopathy [RCV003508232] ChrX:150659765 [GRCh38]
ChrX:149828238 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1645-19A>C single nucleotide variant Severe X-linked myotubular myopathy [RCV003617502] ChrX:150671409 [GRCh38]
ChrX:149839882 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.74A>G (p.Asp25Gly) single nucleotide variant Severe X-linked myotubular myopathy [RCV003839448] ChrX:150596508 [GRCh38]
ChrX:149764972 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.636C>T (p.Asp212=) single nucleotide variant Severe X-linked myotubular myopathy [RCV003617643] ChrX:150641376 [GRCh38]
ChrX:149809849 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.156A>G (p.Ile52Met) single nucleotide variant Severe X-linked myotubular myopathy [RCV003617702] ChrX:150598611 [GRCh38]
ChrX:149767075 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.972G>A (p.Val324=) single nucleotide variant Severe X-linked myotubular myopathy [RCV003849313] ChrX:150649820 [GRCh38]
ChrX:149818293 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.450A>G (p.Leu150=) single nucleotide variant Severe X-linked myotubular myopathy [RCV003618192] ChrX:150638948 [GRCh38]
ChrX:149807421 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1054-18C>G single nucleotide variant Severe X-linked myotubular myopathy [RCV003618194] ChrX:150657803 [GRCh38]
ChrX:149826276 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1766C>G (p.Pro589Arg) single nucleotide variant Severe X-linked myotubular myopathy [RCV003618201] ChrX:150671549 [GRCh38]
ChrX:149840022 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.342+12G>A single nucleotide variant Severe X-linked myotubular myopathy [RCV003849526] ChrX:150614711 [GRCh38]
ChrX:149783184 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.136+14G>A single nucleotide variant Severe X-linked myotubular myopathy [RCV003618852] ChrX:150596584 [GRCh38]
ChrX:149765048 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.868-11T>C single nucleotide variant Severe X-linked myotubular myopathy [RCV003618930] ChrX:150649705 [GRCh38]
ChrX:149818178 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1748C>T (p.Ser583Phe) single nucleotide variant Severe X-linked myotubular myopathy [RCV003619050] ChrX:150671531 [GRCh38]
ChrX:149840004 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.87A>C (p.Arg29=) single nucleotide variant Severe X-linked myotubular myopathy [RCV003618246] ChrX:150596521 [GRCh38]
ChrX:149764985 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.804_805del (p.Asn268fs) deletion Severe X-linked myotubular myopathy [RCV003617304] ChrX:150645807..150645808 [GRCh38]
ChrX:149814280..149814281 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.342+19T>C single nucleotide variant Severe X-linked myotubular myopathy [RCV003618815] ChrX:150614718 [GRCh38]
ChrX:149783191 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.6T>C (p.Ala2=) single nucleotide variant Severe X-linked myotubular myopathy [RCV003618342] ChrX:150592620 [GRCh38]
ChrX:149761082 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1467+24del deletion Severe X-linked myotubular myopathy [RCV003618843] ChrX:150660501 [GRCh38]
ChrX:149828974 [GRCh37]
ChrX:Xq28		 benign
NM_000252.3(MTM1):c.1645-17T>A single nucleotide variant Severe X-linked myotubular myopathy [RCV003618868] ChrX:150671411 [GRCh38]
ChrX:149839884 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1627C>A (p.Pro543Thr) single nucleotide variant Severe X-linked myotubular myopathy [RCV003617487] ChrX:150663592 [GRCh38]
ChrX:149832065 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.520A>G (p.Arg174Gly) single nucleotide variant Severe X-linked myotubular myopathy [RCV003617525] ChrX:150639018 [GRCh38]
ChrX:149807491 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.1608T>C (p.Asn536=) single nucleotide variant Severe X-linked myotubular myopathy [RCV003617327] ChrX:150663573 [GRCh38]
ChrX:149832046 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1436_1437insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCCCCTGGTACTTTCTT (p.Phe478_Leu479insPhePhePhePhePhePhePheXaaXaaXaaXaaSerSerAlaSerLeuThrLeuGlyAlaValAspArgSerCysSerTyrSerAlaIleLeuAlaProProProGlyThrPhe) insertion Severe X-linked myotubular myopathy [RCV003618543] ChrX:150660441..150660442 [GRCh38]
ChrX:149828914..149828915 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.63+21del deletion Severe X-linked myotubular myopathy [RCV003618992] ChrX:150592696 [GRCh38]
ChrX:149761158 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.529-9dup duplication Severe X-linked myotubular myopathy [RCV003617720] ChrX:150641253..150641254 [GRCh38]
ChrX:149809726..149809727 [GRCh37]
ChrX:Xq28		 benign
NM_000252.3(MTM1):c.445-12dup duplication Severe X-linked myotubular myopathy [RCV003617730] ChrX:150638925..150638926 [GRCh38]
ChrX:149807398..149807399 [GRCh37]
ChrX:Xq28		 benign
NM_000252.3(MTM1):c.466G>A (p.Glu156Lys) single nucleotide variant Severe X-linked myotubular myopathy [RCV003617736] ChrX:150638964 [GRCh38]
ChrX:149807437 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1179G>A (p.Leu393=) single nucleotide variant Severe X-linked myotubular myopathy [RCV003619043] ChrX:150657946 [GRCh38]
ChrX:149826419 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.894T>C (p.Asp298=) single nucleotide variant Severe X-linked myotubular myopathy [RCV003617437] ChrX:150649742 [GRCh38]
ChrX:149818215 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.369G>A (p.Leu123=) single nucleotide variant Severe X-linked myotubular myopathy [RCV003617744] ChrX:150619064 [GRCh38]
ChrX:149787537 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.640C>T (p.Arg214Trp) single nucleotide variant Severe X-linked myotubular myopathy [RCV003617748] ChrX:150641380 [GRCh38]
ChrX:149809853 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.1645-17T>G single nucleotide variant Severe X-linked myotubular myopathy [RCV003619088] ChrX:150671411 [GRCh38]
ChrX:149839884 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.63+16A>G single nucleotide variant Severe X-linked myotubular myopathy [RCV003617794] ChrX:150592693 [GRCh38]
ChrX:149761155 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1053+14G>T single nucleotide variant Severe X-linked myotubular myopathy [RCV003619139] ChrX:150649915 [GRCh38]
ChrX:149818388 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.504T>C (p.Asn168=) single nucleotide variant Severe X-linked myotubular myopathy [RCV003618686] ChrX:150639002 [GRCh38]
ChrX:149807475 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1054-4T>C single nucleotide variant Severe X-linked myotubular myopathy [RCV003618710] ChrX:150657817 [GRCh38]
ChrX:149826290 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.528+10dup duplication Severe X-linked myotubular myopathy [RCV003618437] ChrX:150639034..150639035 [GRCh38]
ChrX:149807507..149807508 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.99G>A (p.Glu33=) single nucleotide variant Severe X-linked myotubular myopathy [RCV003617318] ChrX:150596533 [GRCh38]
ChrX:149764997 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.675T>C (p.Ile225=) single nucleotide variant Severe X-linked myotubular myopathy [RCV003618483] ChrX:150641415 [GRCh38]
ChrX:149809888 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1054-6dup duplication Severe X-linked myotubular myopathy [RCV003618529] ChrX:150657812..150657813 [GRCh38]
ChrX:149826285..149826286 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.114del (p.Pro39fs) deletion Severe X-linked myotubular myopathy [RCV003619150] ChrX:150596547 [GRCh38]
ChrX:149765011 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000252.3(MTM1):c.528+18A>G single nucleotide variant Severe X-linked myotubular myopathy [RCV003618845] ChrX:150639044 [GRCh38]
ChrX:149807517 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1261-21_1261-16del deletion Severe X-linked myotubular myopathy [RCV003617779] ChrX:150659642..150659647 [GRCh38]
ChrX:149828115..149828120 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.529-5C>T single nucleotide variant Severe X-linked myotubular myopathy [RCV003618195] ChrX:150641264 [GRCh38]
ChrX:149809737 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1468-18_1468-13del microsatellite Severe X-linked myotubular myopathy [RCV003619069] ChrX:150663412..150663417 [GRCh38]
ChrX:149831885..149831890 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.232-11G>T single nucleotide variant Severe X-linked myotubular myopathy [RCV003619083] ChrX:150614578 [GRCh38]
ChrX:149783051 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.528+13A>T single nucleotide variant Severe X-linked myotubular myopathy [RCV003618178] ChrX:150639039 [GRCh38]
ChrX:149807512 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1158A>G (p.Thr386=) single nucleotide variant Severe X-linked myotubular myopathy [RCV003618179] ChrX:150657925 [GRCh38]
ChrX:149826398 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.600T>G (p.Ala200=) single nucleotide variant Severe X-linked myotubular myopathy [RCV003618573] ChrX:150641340 [GRCh38]
ChrX:149809813 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1047T>C (p.His349=) single nucleotide variant Severe X-linked myotubular myopathy [RCV003618250] ChrX:150649895 [GRCh38]
ChrX:149818368 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.483G>A (p.Val161=) single nucleotide variant Severe X-linked myotubular myopathy [RCV003617378] ChrX:150638981 [GRCh38]
ChrX:149807454 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.411C>T (p.Leu137=) single nucleotide variant Severe X-linked myotubular myopathy [RCV003618228] ChrX:150619106 [GRCh38]
ChrX:149787579 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.444+19C>G single nucleotide variant Severe X-linked myotubular myopathy [RCV003618410] ChrX:150619158 [GRCh38]
ChrX:149787631 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.996A>G (p.Val332=) single nucleotide variant Severe X-linked myotubular myopathy [RCV003618895] ChrX:150649844 [GRCh38]
ChrX:149818317 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.679-19C>G single nucleotide variant Severe X-linked myotubular myopathy [RCV003618355] ChrX:150645664 [GRCh38]
ChrX:149814137 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1053+8T>C single nucleotide variant Severe X-linked myotubular myopathy [RCV003618643] ChrX:150649909 [GRCh38]
ChrX:149818382 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.678+9T>G single nucleotide variant Severe X-linked myotubular myopathy [RCV003618916] ChrX:150641427 [GRCh38]
ChrX:149809900 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.560T>C (p.Phe187Ser) single nucleotide variant Severe X-linked myotubular myopathy [RCV003617653] ChrX:150641300 [GRCh38]
ChrX:149809773 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.1323T>C (p.Phe441=) single nucleotide variant Severe X-linked myotubular myopathy [RCV003618650] ChrX:150659726 [GRCh38]
ChrX:149828199 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1756C>T (p.Pro586Ser) single nucleotide variant Severe X-linked myotubular myopathy [RCV003854985] ChrX:150671539 [GRCh38]
ChrX:149840012 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.6T>G (p.Ala2=) single nucleotide variant Severe X-linked myotubular myopathy [RCV003619127] ChrX:150592620 [GRCh38]
ChrX:149761082 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1468-12G>A single nucleotide variant Severe X-linked myotubular myopathy [RCV003618944] ChrX:150663421 [GRCh38]
ChrX:149831894 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.137-11del deletion Severe X-linked myotubular myopathy [RCV003619142] ChrX:150598575 [GRCh38]
ChrX:149767039 [GRCh37]
ChrX:Xq28		 benign
NM_000252.3(MTM1):c.1353+4A>C single nucleotide variant Severe X-linked myotubular myopathy [RCV003618795] ChrX:150659760 [GRCh38]
ChrX:149828233 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.83A>G (p.Asn28Ser) single nucleotide variant Severe X-linked myotubular myopathy [RCV003619024] ChrX:150596517 [GRCh38]
ChrX:149764981 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.1261-15C>T single nucleotide variant Severe X-linked myotubular myopathy [RCV003823013] ChrX:150659649 [GRCh38]
ChrX:149828122 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.16A>G (p.Thr6Ala) single nucleotide variant Severe X-linked myotubular myopathy [RCV003857809] ChrX:150592630 [GRCh38]
ChrX:149761092 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1468-12_1468-11del deletion Severe X-linked myotubular myopathy [RCV003866282] ChrX:150663420..150663421 [GRCh38]
ChrX:149831893..149831894 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1049T>C (p.Ile350Thr) single nucleotide variant Severe X-linked myotubular myopathy [RCV003847334] ChrX:150649897 [GRCh38]
ChrX:149818370 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731) copy number loss not specified [RCV003986202] ChrX:103405294..155233731 [GRCh37]
ChrX:Xq22.2-28		 pathogenic
NM_000252.3(MTM1):c.528+13A>G single nucleotide variant Severe X-linked myotubular myopathy [RCV003853782] ChrX:150639039 [GRCh38]
ChrX:149807512 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.342+19_342+22del deletion Severe X-linked myotubular myopathy [RCV003871536] ChrX:150614715..150614718 [GRCh38]
ChrX:149783188..149783191 [GRCh37]
ChrX:Xq28		 likely benign
GRCh37/hg19 Xq24-28(chrX:119395676-154930047) copy number loss not specified [RCV003986220] ChrX:119395676..154930047 [GRCh37]
ChrX:Xq24-28		 pathogenic
NM_000252.3(MTM1):c.1468-12G>T single nucleotide variant Severe X-linked myotubular myopathy [RCV003862960] ChrX:150663421 [GRCh38]
ChrX:149831894 [GRCh37]
ChrX:Xq28		 likely benign
NM_000252.3(MTM1):c.1354-19_1354-16del microsatellite Severe X-linked myotubular myopathy [RCV003818846] ChrX:150660348..150660351 [GRCh38]
ChrX:149828821..149828824 [GRCh37]
ChrX:Xq28		 likely benign
GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3 copy number gain not provided [RCV003885530] ChrX:67292994..155240074 [GRCh37]
ChrX:Xq12-28		 pathogenic
NM_000252.3(MTM1):c.785A>C (p.Asp262Ala) single nucleotide variant not provided [RCV003887437] ChrX:150645789 [GRCh38]
ChrX:149814262 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000252.3(MTM1):c.490_493dup (p.Thr165fs) microsatellite MTM1-related condition [RCV003971433] ChrX:150638979..150638980 [GRCh38]
ChrX:149807452..149807453 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000252.3(MTM1):c.1586G>A (p.Arg529His) single nucleotide variant Inborn genetic diseases [RCV003357388] ChrX:150663551 [GRCh38]
ChrX:149832024 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1464
Count of miRNA genes:844
Interacting mature miRNAs:951
Transcripts:ENST00000306167, ENST00000370393, ENST00000370396, ENST00000413012, ENST00000424519, ENST00000490530, ENST00000542741, ENST00000543350
Prediction methods:Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
DXS1345  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X149,831,467 - 149,831,646UniSTSGRCh37
Build 36X149,582,125 - 149,582,304RGDNCBI36
CeleraX150,079,038 - 150,079,217RGD
Cytogenetic MapXq28UniSTS
HuRefX138,692,020 - 138,692,199UniSTS
WI-15352  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X149,841,490 - 149,841,589UniSTSGRCh37
Build 36X149,592,148 - 149,592,247RGDNCBI36
CeleraX150,089,061 - 150,089,160RGD
Cytogenetic MapXq28UniSTS
HuRefX138,701,968 - 138,702,067UniSTS
GeneMap99-GB4 RH MapX347.01UniSTS
Whitehead-RH MapX314.8UniSTS
NCBI RH MapX733.4UniSTS
WI-10395  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X149,785,868 - 149,786,017UniSTSGRCh37
Build 36X149,536,526 - 149,536,675RGDNCBI36
CeleraX150,033,455 - 150,033,604RGD
Cytogenetic MapXq28UniSTS
HuRefX138,646,617 - 138,646,766UniSTS
Whitehead-RH MapX314.8UniSTS
SHGC-34459  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X149,774,297 - 149,774,429UniSTSGRCh37
Build 36X149,524,955 - 149,525,087RGDNCBI36
CeleraX150,021,895 - 150,022,027RGD
Cytogenetic MapXq28UniSTS
HuRefX138,634,893 - 138,635,025UniSTS
DXS8150  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X149,841,494 - 149,841,595UniSTSGRCh37
Build 36X149,592,152 - 149,592,253RGDNCBI36
CeleraX150,089,065 - 150,089,166RGD
Cytogenetic MapXq28UniSTS
HuRefX138,701,972 - 138,702,073UniSTS
GeneMap99-GB4 RH MapX345.15UniSTS
Whitehead-RH MapX312.6UniSTS
Whitehead-YAC Contig MapX UniSTS
NCBI RH MapX733.4UniSTS
RH17874  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X149,774,199 - 149,774,379UniSTSGRCh37
Build 36X149,524,857 - 149,525,037RGDNCBI36
CeleraX150,021,797 - 150,021,977RGD
Cytogenetic MapXq28UniSTS
HuRefX138,634,795 - 138,634,975UniSTS
GeneMap99-GB4 RH MapX345.35UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 801 769 961 163 695 133 2320 166 1151 165 984 1212 42 468 1373 4
Low 1638 2191 765 461 1234 332 2037 2022 2583 254 476 401 133 1 736 1415 2 2
Below cutoff 31 22 9

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC109994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC136957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF002223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH006018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC030779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ002481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC418907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U46024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y15994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000306167
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX150,568,634 - 150,672,874 (+)Ensembl
RefSeq Acc Id: ENST00000370393
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX150,568,625 - 150,596,993 (+)Ensembl
RefSeq Acc Id: ENST00000370396   ⟹   ENSP00000359423
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX150,568,621 - 150,673,143 (+)Ensembl
RefSeq Acc Id: ENST00000424519   ⟹   ENSP00000400699
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX150,568,622 - 150,639,021 (+)Ensembl
RefSeq Acc Id: ENST00000490530
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX150,568,639 - 150,645,871 (+)Ensembl
RefSeq Acc Id: ENST00000684910   ⟹   ENSP00000509844
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX150,568,597 - 150,673,102 (+)Ensembl
RefSeq Acc Id: ENST00000685439   ⟹   ENSP00000508454
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX150,568,744 - 150,673,118 (+)Ensembl
RefSeq Acc Id: ENST00000685944   ⟹   ENSP00000509266
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX150,568,417 - 150,673,130 (+)Ensembl
RefSeq Acc Id: ENST00000686212
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX150,641,139 - 150,673,102 (+)Ensembl
RefSeq Acc Id: ENST00000687215   ⟹   ENSP00000509706
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX150,596,499 - 150,673,102 (+)Ensembl
RefSeq Acc Id: ENST00000687365
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX150,568,618 - 150,620,051 (+)Ensembl
RefSeq Acc Id: ENST00000688152   ⟹   ENSP00000509360
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX150,568,590 - 150,673,112 (+)Ensembl
RefSeq Acc Id: ENST00000688403   ⟹   ENSP00000508944
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX150,568,730 - 150,673,102 (+)Ensembl
RefSeq Acc Id: ENST00000689314   ⟹   ENSP00000510607
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX150,568,738 - 150,673,118 (+)Ensembl
RefSeq Acc Id: ENST00000689694   ⟹   ENSP00000508718
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX150,568,653 - 150,673,130 (+)Ensembl
RefSeq Acc Id: ENST00000689810   ⟹   ENSP00000510635
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX150,568,600 - 150,673,115 (+)Ensembl
RefSeq Acc Id: ENST00000690282   ⟹   ENSP00000509809
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX150,568,677 - 150,673,102 (+)Ensembl
RefSeq Acc Id: ENST00000690351   ⟹   ENSP00000509728
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX150,568,602 - 150,673,102 (+)Ensembl
RefSeq Acc Id: ENST00000691232   ⟹   ENSP00000509675
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX150,568,595 - 150,673,118 (+)Ensembl
RefSeq Acc Id: ENST00000691482
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX150,639,726 - 150,673,051 (+)Ensembl
RefSeq Acc Id: ENST00000691686   ⟹   ENSP00000509784
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX150,568,611 - 150,673,051 (+)Ensembl
RefSeq Acc Id: ENST00000691851   ⟹   ENSP00000510106
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX150,568,611 - 150,673,043 (+)Ensembl
RefSeq Acc Id: ENST00000692015   ⟹   ENSP00000510634
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX150,568,622 - 150,673,124 (+)Ensembl
RefSeq Acc Id: ENST00000692638   ⟹   ENSP00000509412
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX150,568,582 - 150,673,091 (+)Ensembl
RefSeq Acc Id: ENST00000692852   ⟹   ENSP00000510337
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX150,568,625 - 150,673,102 (+)Ensembl
RefSeq Acc Id: ENST00000692915   ⟹   ENSP00000508547
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX150,592,608 - 150,673,102 (+)Ensembl
RefSeq Acc Id: ENST00000693422
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX150,568,612 - 150,600,125 (+)Ensembl
RefSeq Acc Id: NM_000252   ⟹   NP_000243
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X150,568,621 - 150,673,143 (+)NCBI
GRCh37X149,731,104 - 149,841,616 (+)NCBI
Build 36X149,487,727 - 149,592,272 (+)NCBI Archive
HuRefX138,597,863 - 138,702,094 (+)ENTREZGENE
CHM1_1X149,611,646 - 149,715,992 (+)NCBI
T2T-CHM13v2.0X148,836,740 - 148,940,792 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376906   ⟹   NP_001363835
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X150,568,621 - 150,673,143 (+)NCBI
T2T-CHM13v2.0X148,836,740 - 148,940,792 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376907   ⟹   NP_001363836
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X150,568,621 - 150,673,143 (+)NCBI
T2T-CHM13v2.0X148,836,740 - 148,940,792 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376908   ⟹   NP_001363837
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X150,568,621 - 150,673,143 (+)NCBI
T2T-CHM13v2.0X148,836,740 - 148,940,792 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011531171   ⟹   XP_011529473
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X150,568,621 - 150,673,143 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011531172   ⟹   XP_011529474
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X150,562,653 - 150,673,143 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029547   ⟹   XP_016885036
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X150,592,605 - 150,673,143 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029548   ⟹   XP_016885037
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X150,568,621 - 150,673,143 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029551   ⟹   XP_016885040
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X150,619,159 - 150,673,143 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047442132   ⟹   XP_047298088
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X150,562,653 - 150,673,143 (+)NCBI
RefSeq Acc Id: XM_047442133   ⟹   XP_047298089
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X150,568,621 - 150,673,143 (+)NCBI
RefSeq Acc Id: XM_047442134   ⟹   XP_047298090
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X150,568,621 - 150,673,143 (+)NCBI
RefSeq Acc Id: XM_047442135   ⟹   XP_047298091
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X150,590,484 - 150,673,143 (+)NCBI
RefSeq Acc Id: XM_047442136   ⟹   XP_047298092
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X150,590,484 - 150,673,143 (+)NCBI
RefSeq Acc Id: XM_047442137   ⟹   XP_047298093
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X150,568,621 - 150,673,143 (+)NCBI
RefSeq Acc Id: XM_054327111   ⟹   XP_054183086
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X148,830,768 - 148,940,792 (+)NCBI
RefSeq Acc Id: XM_054327112   ⟹   XP_054183087
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X148,836,740 - 148,940,792 (+)NCBI
RefSeq Acc Id: XM_054327113   ⟹   XP_054183088
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X148,860,246 - 148,940,792 (+)NCBI
RefSeq Acc Id: XM_054327114   ⟹   XP_054183089
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X148,836,740 - 148,940,792 (+)NCBI
RefSeq Acc Id: XM_054327115   ⟹   XP_054183090
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X148,830,782 - 148,940,792 (+)NCBI
RefSeq Acc Id: XM_054327116   ⟹   XP_054183091
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X148,836,740 - 148,940,792 (+)NCBI
RefSeq Acc Id: XM_054327117   ⟹   XP_054183092
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X148,836,740 - 148,940,792 (+)NCBI
RefSeq Acc Id: XM_054327118   ⟹   XP_054183093
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X148,858,125 - 148,940,792 (+)NCBI
RefSeq Acc Id: XM_054327119   ⟹   XP_054183094
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X148,858,125 - 148,940,792 (+)NCBI
RefSeq Acc Id: XM_054327120   ⟹   XP_054183095
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X148,836,740 - 148,940,792 (+)NCBI
RefSeq Acc Id: XM_054327121   ⟹   XP_054183096
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X148,886,799 - 148,940,792 (+)NCBI
Protein Sequences
Protein RefSeqs NP_000243 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363835 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363836 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363837 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529473 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529474 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885036 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885037 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885040 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298088 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298089 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298090 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298091 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298092 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298093 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183086 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183087 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183088 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183089 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183090 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183091 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183092 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183093 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183094 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183095 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183096 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC51682 (Get FASTA)   NCBI Sequence Viewer  
  AAH30779 (Get FASTA)   NCBI Sequence Viewer  
  BAF84399 (Get FASTA)   NCBI Sequence Viewer  
  BAH12477 (Get FASTA)   NCBI Sequence Viewer  
  BAH12485 (Get FASTA)   NCBI Sequence Viewer  
  BAH14097 (Get FASTA)   NCBI Sequence Viewer  
  EAW99377 (Get FASTA)   NCBI Sequence Viewer  
  EAW99378 (Get FASTA)   NCBI Sequence Viewer  
  EAW99379 (Get FASTA)   NCBI Sequence Viewer  
  EAW99380 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000359423
  ENSP00000359423.3
  ENSP00000508454.1
  ENSP00000508547.1
  ENSP00000508718
  ENSP00000508718.1
  ENSP00000508944.1
  ENSP00000509266.1
  ENSP00000509360.1
  ENSP00000509412.1
  ENSP00000509675.1
  ENSP00000509706.1
  ENSP00000509728.1
  ENSP00000509784.1
  ENSP00000509809
  ENSP00000509809.1
  ENSP00000509844.1
  ENSP00000510106.1
  ENSP00000510337.1
  ENSP00000510607
  ENSP00000510607.1
  ENSP00000510634
  ENSP00000510634.1
  ENSP00000510635.1
GenBank Protein Q13496 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_000243   ⟸   NM_000252
- Peptide Label: isoform 1
- UniProtKB: F2Z330 (UniProtKB/Swiss-Prot),   B7Z491 (UniProtKB/Swiss-Prot),   A6NDB1 (UniProtKB/Swiss-Prot),   Q8NEL1 (UniProtKB/Swiss-Prot),   Q13496 (UniProtKB/Swiss-Prot),   A8K6P5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011529474   ⟸   XM_011531172
- Peptide Label: isoform X3
- UniProtKB: A0A8I5KZ76 (UniProtKB/TrEMBL),   A8K6P5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011529473   ⟸   XM_011531171
- Peptide Label: isoform X3
- UniProtKB: A0A8I5KZ76 (UniProtKB/TrEMBL),   A8K6P5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016885037   ⟸   XM_017029548
- Peptide Label: isoform X3
- UniProtKB: A0A8I5KZ76 (UniProtKB/TrEMBL),   A8K6P5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016885036   ⟸   XM_017029547
- Peptide Label: isoform X2
- UniProtKB: A8K6P5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016885040   ⟸   XM_017029551
- Peptide Label: isoform X7
- UniProtKB: A0A8I5KQR6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001363837   ⟸   NM_001376908
- Peptide Label: isoform 1
- UniProtKB: Q13496 (UniProtKB/Swiss-Prot),   F2Z330 (UniProtKB/Swiss-Prot),   B7Z491 (UniProtKB/Swiss-Prot),   A6NDB1 (UniProtKB/Swiss-Prot),   Q8NEL1 (UniProtKB/Swiss-Prot),   A8K6P5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363835   ⟸   NM_001376906
- Peptide Label: isoform 2
- UniProtKB: A8K6P5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363836   ⟸   NM_001376907
- Peptide Label: isoform 3
- UniProtKB: A0A8I5QJV9 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000359423   ⟸   ENST00000370396
RefSeq Acc Id: ENSP00000400699   ⟸   ENST00000424519
RefSeq Acc Id: ENSP00000508547   ⟸   ENST00000692915
RefSeq Acc Id: ENSP00000509675   ⟸   ENST00000691232
RefSeq Acc Id: ENSP00000510337   ⟸   ENST00000692852
RefSeq Acc Id: ENSP00000508718   ⟸   ENST00000689694
RefSeq Acc Id: ENSP00000509706   ⟸   ENST00000687215
RefSeq Acc Id: ENSP00000509728   ⟸   ENST00000690351
RefSeq Acc Id: ENSP00000510634   ⟸   ENST00000692015
RefSeq Acc Id: ENSP00000509784   ⟸   ENST00000691686
RefSeq Acc Id: ENSP00000510607   ⟸   ENST00000689314
RefSeq Acc Id: ENSP00000510106   ⟸   ENST00000691851
RefSeq Acc Id: ENSP00000510635   ⟸   ENST00000689810
RefSeq Acc Id: ENSP00000509844   ⟸   ENST00000684910
RefSeq Acc Id: ENSP00000508454   ⟸   ENST00000685439
RefSeq Acc Id: ENSP00000509360   ⟸   ENST00000688152
RefSeq Acc Id: ENSP00000509809   ⟸   ENST00000690282
RefSeq Acc Id: ENSP00000509412   ⟸   ENST00000692638
RefSeq Acc Id: ENSP00000509266   ⟸   ENST00000685944
RefSeq Acc Id: ENSP00000508944   ⟸   ENST00000688403
RefSeq Acc Id: XP_047298088   ⟸   XM_047442132
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047298089   ⟸   XM_047442133
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047298090   ⟸   XM_047442134
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047298093   ⟸   XM_047442137
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047298091   ⟸   XM_047442135
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047298092   ⟸   XM_047442136
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054183086   ⟸   XM_054327111
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054183090   ⟸   XM_054327115
- Peptide Label: isoform X3
- UniProtKB: A0A8I5KZ76 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183087   ⟸   XM_054327112
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054183092   ⟸   XM_054327117
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054183091   ⟸   XM_054327116
- Peptide Label: isoform X3
- UniProtKB: A0A8I5KZ76 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183089   ⟸   XM_054327114
- Peptide Label: isoform X3
- UniProtKB: A0A8I5KZ76 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183095   ⟸   XM_054327120
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054183093   ⟸   XM_054327118
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054183094   ⟸   XM_054327119
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054183088   ⟸   XM_054327113
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054183096   ⟸   XM_054327121
- Peptide Label: isoform X7
- UniProtKB: A0A8I5KQR6 (UniProtKB/TrEMBL)
Protein Domains
GRAM   Myotubularin phosphatase   Tyrosine specific protein phosphatases

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q13496-F1-model_v2 AlphaFold Q13496 1-603 view protein structure

Promoters
RGD ID:6809068
Promoter ID:HG_KWN:68411
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000370393,   ENST00000370396,   NM_000252,   OTTHUMT00000060848,   OTTHUMT00000060849,   OTTHUMT00000060850,   UC010NTE.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X149,487,589 - 149,488,089 (+)MPROMDB
RGD ID:13628324
Promoter ID:EPDNEW_H29437
Type:initiation region
Name:MTM1_1
Description:myotubularin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X150,568,621 - 150,568,681EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7448 AgrOrtholog
COSMIC MTM1 COSMIC
Ensembl Genes ENSG00000171100 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000306167 ENTREZGENE
  ENST00000370396 ENTREZGENE
  ENST00000370396.7 UniProtKB/Swiss-Prot
  ENST00000684910.1 UniProtKB/TrEMBL
  ENST00000685439.1 UniProtKB/TrEMBL
  ENST00000685944.1 UniProtKB/Swiss-Prot
  ENST00000687215.1 UniProtKB/TrEMBL
  ENST00000688152.1 UniProtKB/TrEMBL
  ENST00000688403.1 UniProtKB/TrEMBL
  ENST00000689314 ENTREZGENE
  ENST00000689314.1 UniProtKB/TrEMBL
  ENST00000689694 ENTREZGENE
  ENST00000689694.1 UniProtKB/Swiss-Prot
  ENST00000689810.1 UniProtKB/TrEMBL
  ENST00000690282 ENTREZGENE
  ENST00000690282.1 UniProtKB/TrEMBL
  ENST00000690351.1 UniProtKB/TrEMBL
  ENST00000691232.1 UniProtKB/TrEMBL
  ENST00000691686.1 UniProtKB/TrEMBL
  ENST00000691851.1 UniProtKB/TrEMBL
  ENST00000692015 ENTREZGENE
  ENST00000692015.1 UniProtKB/TrEMBL
  ENST00000692638.1 UniProtKB/TrEMBL
  ENST00000692852.1 UniProtKB/TrEMBL
  ENST00000692915.1 UniProtKB/TrEMBL
Gene3D-CATH 2.30.29.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000171100 GTEx
HGNC ID HGNC:7448 ENTREZGENE
Human Proteome Map MTM1 Human Proteome Map
InterPro GRAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Myotubularin-like_Pase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Myotubularin_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot-tyrosine_phosphatase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_Pase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_Pase_cat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TYR_PHOSPHATASE_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4534 UniProtKB/Swiss-Prot
NCBI Gene 4534 ENTREZGENE
OMIM 300415 OMIM
PANTHER PTHR10807 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10807:SF69 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam GRAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Myotub-related UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31251 PharmGKB
PROSITE PPASE_MYOTUBULARIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TYR_PHOSPHATASE_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TYR_PHOSPHATASE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART GRAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTPc_motif UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP PH domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52799 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A8I5KNI6_HUMAN UniProtKB/TrEMBL
  A0A8I5KQR6 ENTREZGENE, UniProtKB/TrEMBL
  A0A8I5KRS4_HUMAN UniProtKB/TrEMBL
  A0A8I5KT87_HUMAN UniProtKB/TrEMBL
  A0A8I5KVB1_HUMAN UniProtKB/TrEMBL
  A0A8I5KVR9_HUMAN UniProtKB/TrEMBL
  A0A8I5KW93_HUMAN UniProtKB/TrEMBL
  A0A8I5KYA6_HUMAN UniProtKB/TrEMBL
  A0A8I5KYJ1_HUMAN UniProtKB/TrEMBL
  A0A8I5KZ76 ENTREZGENE, UniProtKB/TrEMBL
  A0A8I5KZ85_HUMAN UniProtKB/TrEMBL
  A0A8I5QJL1_HUMAN UniProtKB/TrEMBL
  A0A8I5QJV9 ENTREZGENE, UniProtKB/TrEMBL
  A6NDB1 ENTREZGENE
  A8K6P5 ENTREZGENE, UniProtKB/TrEMBL
  B7Z491 ENTREZGENE
  B7Z499_HUMAN UniProtKB/TrEMBL
  F2Z330 ENTREZGENE
  MTM1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q8NEL1 ENTREZGENE
UniProt Secondary A6NDB1 UniProtKB/Swiss-Prot
  B7Z491 UniProtKB/Swiss-Prot
  F2Z330 UniProtKB/Swiss-Prot
  Q8NEL1 UniProtKB/Swiss-Prot