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
Description: Exhibits intermediate filament binding activity; phosphatase activity; and phosphatidylinositol binding activity. Involved in several processes, including dephosphorylation; intermediate filament organization; and mitochondrion organization. Localizes to several cellular components, including filopodium; late endosome; and ruffle. Implicated in centronuclear myopathy X-linked and congenital structural myopathy.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CNM; 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
GRCh38.p13 EnsemblX150,568,621 - 150,673,143 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX150,568,619 - 150,673,322 (+)EnsemblGRCh38hg38GRCh38
GRCh38X150,562,658 - 150,673,143 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X149,737,071 - 149,841,616 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X149,487,727 - 149,592,272 (+)NCBINCBI36hg18NCBI36
Build 34X149,407,636 - 149,512,182NCBI
CeleraX149,984,899 - 150,089,187 (+)NCBI
Cytogenetic MapXq28NCBI
HuRefX138,597,863 - 138,702,094 (+)NCBIHuRef
CHM1_1X149,611,646 - 149,715,992 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

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

Phenotype Annotations     Click to see Annotation Detail View
References

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  


Genomics

Comparative Map Data
MTM1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX150,568,621 - 150,673,143 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX150,568,619 - 150,673,322 (+)EnsemblGRCh38hg38GRCh38
GRCh38X150,562,658 - 150,673,143 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X149,737,071 - 149,841,616 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X149,487,727 - 149,592,272 (+)NCBINCBI36hg18NCBI36
Build 34X149,407,636 - 149,512,182NCBI
CeleraX149,984,899 - 150,089,187 (+)NCBI
Cytogenetic MapXq28NCBI
HuRefX138,597,863 - 138,702,094 (+)NCBIHuRef
CHM1_1X149,611,646 - 149,715,992 (+)NCBICHM1_1
Mtm1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X70,254,373 - 70,359,019 (+)NCBIGRCm39mm39
GRCm39 EnsemblX70,254,373 - 70,359,297 (+)Ensembl
GRCm38X71,210,767 - 71,315,413 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX71,210,767 - 71,315,691 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X68,463,942 - 68,568,470 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X67,475,638 - 67,575,821 (+)NCBImm8
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
mRatBN7.26488,691 - 506,964 (-)NCBI
Rnor_6.0 Ensembl618,821,815 - 18,839,409 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0618,821,821 - 18,840,449 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0628,722,724 - 28,736,560 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47247,960 - 265,281 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.17247,959 - 265,280 (+)NCBI
Celera6311,677 - 329,242 (-)NCBICelera
Cytogenetic Map6q12NCBI
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
PanPan1.1X150,174,762 - 150,255,381 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX150,174,758 - 150,255,381 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X140,218,742 - 140,323,495 (+)NCBIMhudiblu_PPA_v0panPan3
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 (+)NCBI
ROS_Cfam_1.0X121,040,671 - 121,137,182 (+)NCBI
UMICH_Zoey_3.1X117,766,609 - 117,863,103 (+)NCBI
UNSW_CanFamBas_1.0X120,208,871 - 120,297,026 (+)NCBI
UU_Cfam_GSD_1.0X120,127,109 - 120,223,642 (+)NCBI
Mtm1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X116,358,970 - 116,463,514 (+)NCBI
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 - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X125,151,279 - 125,250,816 (+)NCBI
ChlSab1.1 EnsemblX125,174,289 - 125,249,588 (+)Ensembl
Mtm1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624923952,782 - 1,062,391 (+)NCBI

Position Markers
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

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.


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
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
  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
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX150,568,634 - 150,672,874 (+)Ensembl
RefSeq Acc Id: ENST00000370393
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX150,568,625 - 150,596,993 (+)Ensembl
RefSeq Acc Id: ENST00000370396   ⟹   ENSP00000359423
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX150,568,621 - 150,673,143 (+)Ensembl
RefSeq Acc Id: ENST00000424519   ⟹   ENSP00000400699
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX150,568,622 - 150,639,021 (+)Ensembl
RefSeq Acc Id: ENST00000490530
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX150,568,639 - 150,645,871 (+)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
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
RefSeq Acc Id: NM_001376907   ⟹   NP_001363836
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X150,568,621 - 150,673,143 (+)NCBI
RefSeq Acc Id: NM_001376908   ⟹   NP_001363837
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X150,568,621 - 150,673,143 (+)NCBI
RefSeq Acc Id: XM_005274687   ⟹   XP_005274744
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X150,562,658 - 150,673,143 (+)NCBI
GRCh37X149,731,104 - 149,841,616 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011531171   ⟹   XP_011529473
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X150,568,594 - 150,673,143 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011531172   ⟹   XP_011529474
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X150,562,658 - 150,673,143 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029547   ⟹   XP_016885036
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X150,592,605 - 150,673,143 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029548   ⟹   XP_016885037
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X150,568,698 - 150,673,143 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029551   ⟹   XP_016885040
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X150,634,047 - 150,673,143 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000243   ⟸   NM_000252
- UniProtKB: Q13496 (UniProtKB/Swiss-Prot),   A0A024RC06 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005274744   ⟸   XM_005274687
- Peptide Label: isoform X3
- UniProtKB: Q13496 (UniProtKB/Swiss-Prot),   A0A024RC06 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011529474   ⟸   XM_011531172
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011529473   ⟸   XM_011531171
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016885037   ⟸   XM_017029548
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016885036   ⟸   XM_017029547
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016885040   ⟸   XM_017029551
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: NP_001363837   ⟸   NM_001376908
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001363835   ⟸   NM_001376906
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001363836   ⟸   NM_001376907
- Peptide Label: isoform 3
RefSeq Acc Id: ENSP00000359423   ⟸   ENST00000370396
RefSeq Acc Id: ENSP00000400699   ⟸   ENST00000424519
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

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_000252.2(MTM1):c.1484C>T (p.Thr495Ile) single nucleotide variant not specified [RCV000518421] ChrX:150663449 [GRCh38]
ChrX:149831922 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000252.2(MTM1):c.136+9C>T single nucleotide variant Severe X-linked myotubular myopathy [RCV000548653] ChrX:150596579 [GRCh38]
ChrX:149765043 [GRCh37]
ChrX:Xq28
benign
NM_000252.2(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_000252.2(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_000252.2(MTM1):c.205C>T (p.Arg69Cys) single nucleotide variant Severe X-linked myotubular myopathy [RCV000011804] ChrX:150598660 [GRCh38]
ChrX:149767124 [GRCh37]
ChrX:Xq28
pathogenic
NM_000252.2(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_000252.2(MTM1):c.141_144del (p.Glu48fs) deletion Severe X-linked myotubular myopathy [RCV000011806] ChrX:150598594..150598597 [GRCh38]
ChrX:149767058..149767061 [GRCh37]
ChrX:Xq28
pathogenic
NM_000252.2(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
NM_000252.2(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_000252.2(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_000252.2(MTM1):c.605del (p.Leu202fs) deletion Severe X-linked myotubular myopathy [RCV000011810] ChrX:150641342 [GRCh38]
ChrX:149809815 [GRCh37]
ChrX:Xq28
pathogenic
NM_000252.2(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_000252.2(MTM1):c.137-11T>A single nucleotide variant not provided [RCV000521357] ChrX:150598581 [GRCh38]
ChrX:149767045 [GRCh37]
ChrX:Xq28
pathogenic
NM_000252.2(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_000252.2(MTM1):c.1040T>G (p.Leu347Ter) single nucleotide variant not provided [RCV000368501] ChrX:150649888 [GRCh38]
ChrX:149818361 [GRCh37]
ChrX:Xq28
pathogenic
NM_000252.2(MTM1):c.1054-5G>C single nucleotide variant not provided [RCV000078426] ChrX:150657816 [GRCh38]
ChrX:149826289 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000252.2(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 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_000252.2(MTM1):c.1306_1310dup (p.Phe438fs) duplication not provided [RCV000078429] ChrX:150659707..150659708 [GRCh38]
ChrX:149828180..149828181 [GRCh37]
ChrX:Xq28
pathogenic
NM_000252.2(MTM1):c.1357_1358del (p.Pro453fs) deletion not provided [RCV000378438] ChrX:150660373..150660374 [GRCh38]
ChrX:149828846..149828847 [GRCh37]
ChrX:Xq28
pathogenic
NM_000252.2(MTM1):c.1369G>A (p.Glu457Lys) single nucleotide variant not provided [RCV000078431] ChrX:150660386 [GRCh38]
ChrX:149828859 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000252.2(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_000252.2(MTM1):c.1644+1G>T single nucleotide variant not provided [RCV000296100] ChrX:150663610 [GRCh38]
ChrX:149832083 [GRCh37]
ChrX:Xq28
pathogenic
NM_000252.2(MTM1):c.595_599del (p.Pro199fs) deletion not provided [RCV000293067] ChrX:150641334..150641338 [GRCh38]
ChrX:149809807..149809811 [GRCh37]
ChrX:Xq28
pathogenic
NM_000252.2(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_000252.2(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
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_000252.2(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_000252.2(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_000252.2(MTM1):c.557C>T (p.Thr186Ile) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146461] ChrX:150641297 [GRCh38]
ChrX:149809770 [GRCh37]
ChrX:Xq28
pathogenic
NM_000252.2(MTM1):c.561T>C (p.Phe187=) single nucleotide variant not specified [RCV000146462] ChrX:150641301 [GRCh38]
ChrX:149809774 [GRCh37]
ChrX:Xq28
benign
NM_000252.2(MTM1):c.575A>G (p.Tyr192Cys) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146463] ChrX:150641315 [GRCh38]
ChrX:149809788 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000252.2(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_000252.2(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_000252.2(MTM1):c.614C>T (p.Pro205Leu) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146466] ChrX:150641354 [GRCh38]
ChrX:149809827 [GRCh37]
ChrX:Xq28
pathogenic
NM_000252.2(MTM1):c.629A>G (p.Asp210Gly) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146467] ChrX:150641369 [GRCh38]
ChrX:149809842 [GRCh37]
ChrX:Xq28
pathogenic
NM_000252.2(MTM1):c.63+1G>A single nucleotide variant Severe X-linked myotubular myopathy [RCV000146468] ChrX:150592678 [GRCh38]
ChrX:149761140 [GRCh37]
ChrX:Xq28
pathogenic
NM_000252.2(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_000252.2(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_000252.2(MTM1):c.64-14T>C single nucleotide variant not specified [RCV000146471] ChrX:150596484 [GRCh38]
ChrX:149764948 [GRCh37]
ChrX:Xq28
benign
NM_000252.2(MTM1):c.64-1G>A single nucleotide variant Severe X-linked myotubular myopathy [RCV000146472] ChrX:150596497 [GRCh38]
ChrX:149764961 [GRCh37]
ChrX:Xq28
pathogenic
NM_000252.2(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_000252.2(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_000252.2(MTM1):c.678+1G>A single nucleotide variant Severe X-linked myotubular myopathy [RCV000146475] ChrX:150641419 [GRCh38]
ChrX:149809892 [GRCh37]
ChrX:Xq28
pathogenic
NM_000252.2(MTM1):c.679G>A (p.Val227Met) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146476] ChrX:150645683 [GRCh38]
ChrX:149814156 [GRCh37]
ChrX:Xq28
pathogenic
NM_000252.2(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_000252.2(MTM1):c.684G>C (p.Leu228=) single nucleotide variant not specified [RCV000146478] ChrX:150645688 [GRCh38]
ChrX:149814161 [GRCh37]
ChrX:Xq28
benign
NM_000252.2(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_000252.2(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_000252.2(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_000252.2(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_000252.2(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_000252.2(MTM1):c.867+1G>A single nucleotide variant Severe X-linked myotubular myopathy [RCV000146485] ChrX:150645872 [GRCh38]
ChrX:149814345 [GRCh37]
ChrX:Xq28
pathogenic
NM_000252.2(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_000252.2(MTM1):c.912del (p.Glu305fs) deletion Severe X-linked myotubular myopathy [RCV000146487] ChrX:150649759 [GRCh38]
ChrX:149818232 [GRCh37]
ChrX:Xq28
pathogenic
NM_000252.2(MTM1):c.913G>A (p.Glu305Lys) single nucleotide variant not specified [RCV000146488] ChrX:150649761 [GRCh38]
ChrX:149818234 [GRCh37]
ChrX:Xq28
benign
NM_000252.2(MTM1):c.921_923CTT[1] (p.Phe308del) microsatellite Severe X-linked myotubular myopathy [RCV000146489] ChrX:150649767..150649769 [GRCh38]
ChrX:149818240..149818242 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000252.2(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_000252.2(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_000252.2(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_000252.2(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_000252.2(MTM1):c.1053+1G>C single nucleotide variant Severe X-linked myotubular myopathy [RCV000146372] ChrX:150649902 [GRCh38]
ChrX:149818375 [GRCh37]
ChrX:Xq28
pathogenic
NM_000252.2(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_000252.2(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_000252.2(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_000252.2(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_000252.2(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_000252.2(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_000252.2(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_000252.2(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_000252.2(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_000252.2(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_000252.2(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_000252.2(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_000252.2(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_000252.2(MTM1):c.1234A>G (p.Ile412Val) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146386] ChrX:150658001 [GRCh38]
ChrX:149826474 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000252.2(MTM1):c.1244G>A (p.Gly415Glu) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146387] ChrX:150658011 [GRCh38]
ChrX:149826484 [GRCh37]
ChrX:Xq28
pathogenic
NM_000252.2(MTM1):c.1254T>C (p.Phe418=) single nucleotide variant not specified [RCV000146388] ChrX:150658021 [GRCh38]
ChrX:149826494 [GRCh37]
ChrX:Xq28
benign
NM_000252.2(MTM1):c.1260+1G>A single nucleotide variant Severe X-linked myotubular myopathy [RCV000146389] ChrX:150658028 [GRCh38]
ChrX:149826501 [GRCh37]
ChrX:Xq28
pathogenic
NM_000252.2(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_000252.2(MTM1):c.1261-1G>C single nucleotide variant Severe X-linked myotubular myopathy [RCV000146391] ChrX:150659663 [GRCh38]
ChrX:149828136 [GRCh37]
ChrX:Xq28
pathogenic
NM_000252.2(MTM1):c.1261C>T (p.Arg421Ter) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146392]|not provided [RCV000724986] ChrX:150659664 [GRCh38]
ChrX:149828137 [GRCh37]
ChrX:Xq28
pathogenic
NM_000252.2(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_000252.2(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_000252.2(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_000252.2(MTM1):c.1307del (p.Pro436fs) deletion Severe X-linked myotubular myopathy [RCV000146396] ChrX:150659709 [GRCh38]
ChrX:149828182 [GRCh37]
ChrX:Xq28
pathogenic
NM_000252.2(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_000252.2(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_000252.2(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_000252.2(MTM1):c.1353+1G>A single nucleotide variant Severe X-linked myotubular myopathy [RCV000146400] ChrX:150659757 [GRCh38]
ChrX:149828230 [GRCh37]
ChrX:Xq28
pathogenic
NM_000252.2(MTM1):c.1353+2T>C single nucleotide variant Severe X-linked myotubular myopathy [RCV000146401] ChrX:150659758 [GRCh38]
ChrX:149828231 [GRCh37]
ChrX:Xq28
pathogenic
NM_000252.2(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_000252.2(MTM1):c.1354-1G>A single nucleotide variant Severe X-linked myotubular myopathy [RCV000146403] ChrX:150660370 [GRCh38]
ChrX:149828843 [GRCh37]
ChrX:Xq28
pathogenic
NM_000252.2(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_000252.2(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_000252.2(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_000252.2(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_000252.2(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_000252.2(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_000252.2(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_000252.2(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_000252.2(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_000252.2(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_000252.2(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_000252.2(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_000252.2(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_000252.2(MTM1):c.145G>A (p.Val49Ile) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146418] ChrX:150598600 [GRCh38]
ChrX:149767064 [GRCh37]
ChrX:Xq28
pathogenic
NM_000252.2(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_000252.2(MTM1):c.1465_1468del (p.Gln489fs) deletion Severe X-linked myotubular myopathy [RCV000146420] ChrX:150660479..150660482 [GRCh38]
ChrX:149828952..149828955 [GRCh37]
ChrX:Xq28
pathogenic
NM_000252.2(MTM1):c.1467+1G>A single nucleotide variant Severe X-linked myotubular myopathy [RCV000146421] ChrX:150660485 [GRCh38]
ChrX:149828958 [GRCh37]
ChrX:Xq28
pathogenic
NM_000252.2(MTM1):c.1467+1G>T single nucleotide variant Severe X-linked myotubular myopathy [RCV000146422] ChrX:150660485 [GRCh38]
ChrX:149828958 [GRCh37]
ChrX:Xq28
pathogenic
NM_000252.2(MTM1):c.1467+2T>A single nucleotide variant Severe X-linked myotubular myopathy [RCV000146423] ChrX:150660486 [GRCh38]
ChrX:149828959 [GRCh37]
ChrX:Xq28
pathogenic
NM_000252.2(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_000252.2(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_000252.2(MTM1):c.1509del (p.Asn503fs) deletion Severe X-linked myotubular myopathy [RCV000146426] ChrX:150663474 [GRCh38]
ChrX:149831947 [GRCh37]
ChrX:Xq28
pathogenic
NM_000252.2(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_000252.2(MTM1):c.154del (p.Ile52fs) deletion Severe X-linked myotubular myopathy [RCV000146428] ChrX:150598609 [GRCh38]
ChrX:149767073 [GRCh37]
ChrX:Xq28
pathogenic
NM_000252.2(MTM1):c.1558C>T (p.Arg520Ter) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146429] ChrX:150663523 [GRCh38]
ChrX:149831996 [GRCh37]
ChrX:Xq28
pathogenic
NM_000252.2(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_000252.2(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_000252.2(MTM1):c.1792del (p.His598fs) deletion Severe X-linked myotubular myopathy [RCV000146432] ChrX:150671572 [GRCh38]
ChrX:149840045 [GRCh37]
ChrX:Xq28
pathogenic
NM_000252.2(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_000252.2(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_000252.2(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_000252.2(MTM1):c.231+2T>G single nucleotide variant Severe X-linked myotubular myopathy [RCV000146436] ChrX:150598688 [GRCh38]
ChrX:149767152 [GRCh37]
ChrX:Xq28
pathogenic
NM_000252.2(MTM1):c.232-1G>A single nucleotide variant Severe X-linked myotubular myopathy [RCV000146437] ChrX:150614588 [GRCh38]
ChrX:149783061 [GRCh37]
ChrX:Xq28
pathogenic
NM_000252.2(MTM1):c.232-2A>C single nucleotide variant Severe X-linked myotubular myopathy [RCV000146438] ChrX:150614587 [GRCh38]
ChrX:149783060 [GRCh37]
ChrX:Xq28
pathogenic
NM_000252.2(MTM1):c.232-3C>A single nucleotide variant Severe X-linked myotubular myopathy [RCV000146439] ChrX:150614586 [GRCh38]
ChrX:149783059 [GRCh37]
ChrX:Xq28
pathogenic
NM_000252.2(MTM1):c.252del (p.Asp84fs) deletion Severe X-linked myotubular myopathy [RCV000146440] ChrX:150614609 [GRCh38]
ChrX:149783082 [GRCh37]
ChrX:Xq28
pathogenic
NM_000252.2(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_000252.2(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_000252.2(MTM1):c.301A>G (p.Ser101Gly) single nucleotide variant Severe X-linked myotubular myopathy [RCV000146443] ChrX:150614658 [GRCh38]
ChrX:149783131 [GRCh37]
ChrX:Xq28
pathogenic
NM_000252.2(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_000252.2(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_000252.2(MTM1):c.343-2A>G single nucleotide variant Severe X-linked myotubular myopathy [RCV000146446] ChrX:150619036 [GRCh38]
ChrX:149787509 [GRCh37]
ChrX:Xq28
pathogenic
NM_000252.2(MTM1):c.395_396AT[1] (p.Met133fs) microsatellite Severe X-linked myotubular myopathy [RCV000146447] ChrX:150619090..150619091 [GRCh38]
ChrX:149787563..149787564 [GRCh37]
ChrX:Xq28
pathogenic
NM_000252.2(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_000252.2(MTM1):c.402del (p.Phe134fs) deletion Severe X-linked myotubular myopathy [RCV000146449] ChrX:150619095 [GRCh38]
ChrX:149787568 [GRCh37]
ChrX:Xq28
pathogenic
NM_000252.2(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_000252.2(MTM1):c.431del (p.Leu144fs) deletion Severe X-linked myotubular myopathy [RCV000146451] ChrX:150619126 [GRCh38]
ChrX:149787599 [GRCh37]
ChrX:Xq28
pathogenic
NM_000252.2(MTM1):c.469del (p.Glu157fs) deletion Severe X-linked myotubular myopathy [RCV000146452] ChrX:150638967 [GRCh38]
ChrX:149807440 [GRCh37]
ChrX:Xq28
pathogenic
NM_000252.2(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_000252.2(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_000252.2(MTM1):c.528+1G>T single nucleotide variant Severe X-linked myotubular myopathy [RCV000146455] ChrX:150639027 [GRCh38]
ChrX:149807500 [GRCh37]
ChrX:Xq28
pathogenic
NM_000252.2(MTM1):c.529-2A>G single nucleotide variant Severe X-linked myotubular myopathy [RCV000146456] ChrX:150641267 [GRCh38]
ChrX:149809740 [GRCh37]
ChrX:Xq28
pathogenic
NM_000252.2(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_000252.2(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_000252.2(MTM1):c.1415_1416del (p.Ser472fs) deletion not provided [RCV000388294] ChrX:150660432..150660433 [GRCh38]
ChrX:149828905..149828906 [GRCh37]
ChrX:Xq28
pathogenic
NM_000252.2(MTM1):c.1644+3_1644+6del microsatellite not provided [RCV000174668] ChrX:150663608..150663611 [GRCh38]
ChrX:149832081..149832084 [GRCh37]
ChrX:Xq28
pathogenic
NM_000252.2(MTM1):c.49G>T (p.Glu17Ter) single nucleotide variant not provided [RCV000254935] ChrX:150592663 [GRCh38]
ChrX:149761125 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
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_000252.2(MTM1):c.949dup (p.Met317fs) duplication Severe X-linked myotubular myopathy [RCV000195241] ChrX:150649796..150649797 [GRCh38]
ChrX:149818269..149818270 [GRCh37]
ChrX:Xq28
pathogenic
NM_000252.2(MTM1):c.1349_1353+4del deletion Severe X-linked myotubular myopathy [RCV000192959] ChrX:150659750..150659758 [GRCh38]
ChrX:149828223..149828231 [GRCh37]
ChrX:Xq28
pathogenic
NM_000252.2(MTM1):c.422C>T (p.Ala141Val) single nucleotide variant Severe X-linked myotubular myopathy [RCV000552763]|not specified [RCV000194154] ChrX:150619117 [GRCh38]
ChrX:149787590 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_000252.2(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_000252.2(MTM1):c.867_867+1dup duplication Severe X-linked myotubular myopathy [RCV000194416] ChrX:150645870..150645871 [GRCh38]
ChrX:149814343..149814344 [GRCh37]
ChrX:Xq28
pathogenic
NM_000252.2(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_000252.2(MTM1):c.1015dup (p.Ser339fs) duplication Severe X-linked myotubular myopathy [RCV000192362] ChrX:150649862..150649863 [GRCh38]
ChrX:149818335..149818336 [GRCh37]
ChrX:Xq28
pathogenic
NM_000252.2(MTM1):c.1283del (p.Asn428fs) deletion Severe X-linked myotubular myopathy [RCV000192715] ChrX:150659682 [GRCh38]
ChrX:149828155 [GRCh37]
ChrX:Xq28
pathogenic
NM_000252.2(MTM1):c.419dup (p.Tyr140Ter) duplication Severe X-linked myotubular myopathy [RCV000192943] ChrX:150619113..150619114 [GRCh38]
ChrX:149787586..149787587 [GRCh37]
ChrX:Xq28
pathogenic
NM_000252.2(MTM1):c.969dup (p.Val324fs) duplication Severe X-linked myotubular myopathy [RCV000193112] ChrX:150649810..150649811 [GRCh38]
ChrX:149818283..149818284 [GRCh37]
ChrX:Xq28
pathogenic
NM_000252.2(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_000252.2(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_000252.2(MTM1):c.137-11dup duplication not specified [RCV000193815] ChrX:150598574..150598575 [GRCh38]
ChrX:149767038..149767039 [GRCh37]
ChrX:Xq28
benign
NM_000252.2(MTM1):c.96dup (p.Glu33Ter) duplication Severe X-linked myotubular myopathy [RCV000194336] ChrX:150596529..150596530 [GRCh38]
ChrX:149764993..149764994 [GRCh37]
ChrX:Xq28
pathogenic
NM_000252.2(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_000252.2(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_000252.2(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_000252.2(MTM1):c.564_566TAA[1] (p.Asn189del) microsatellite not provided [RCV000224134] ChrX:150641304..150641306 [GRCh38]
ChrX:149809777..149809779 [GRCh37]
ChrX:Xq28
pathogenic
NM_000252.2(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_000252.2(MTM1):c.1260+17A>G single nucleotide variant not specified [RCV000242711] ChrX:150658044 [GRCh38]
ChrX:149826517 [GRCh37]
ChrX:Xq28
benign
NM_000252.2(MTM1):c.593dup (p.Tyr198Ter) duplication not provided [RCV000318520] ChrX:150641332..150641333 [GRCh38]
ChrX:149809805..149809806 [GRCh37]
ChrX:Xq28
pathogenic
NM_000252.2(MTM1):c.339T>C (p.Cys113=) single nucleotide variant Severe X-linked myotubular myopathy [RCV000636899]|not specified [RCV000354524] ChrX:150614696 [GRCh38]
ChrX:149783169 [GRCh37]
ChrX:Xq28
benign
NM_000252.2(MTM1):c.1611C>A (p.Tyr537Ter) single nucleotide variant not provided [RCV000397753] ChrX:150663576 [GRCh38]
ChrX:149832049 [GRCh37]
ChrX:Xq28
pathogenic
NM_000252.2(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_000252.2(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_000252.2(MTM1):c.444+1G>A single nucleotide variant not provided [RCV000364200] ChrX:150619140 [GRCh38]
ChrX:149787613 [GRCh37]
ChrX:Xq28
pathogenic
NM_000252.2(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_000252.2(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_000252.2(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_000252.2(MTM1):c.1053+5G>A single nucleotide variant Centronuclear myopathy [RCV000582006] ChrX:150649906 [GRCh38]
ChrX:149818379 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000252.2(MTM1):c.1262G>T (p.Arg421Leu) single nucleotide variant Polyhydramnios [RCV000735401] ChrX:150659665 [GRCh38]
ChrX:149828138 [GRCh37]
ChrX:Xq28
pathogenic
NM_000252.2(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_000252.2(MTM1):c.444+16C>G single nucleotide variant not specified [RCV000434699] ChrX:150619155 [GRCh38]
ChrX:149787628 [GRCh37]
ChrX:Xq28
likely benign
NM_000252.2(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_000252.2(MTM1):c.-24G>T single nucleotide variant not specified [RCV000442473] ChrX:150568649 [GRCh38]
ChrX:149737099 [GRCh37]
ChrX:Xq28
likely benign
NM_000252.2(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_000252.2(MTM1):c.582C>T (p.Leu194=) single nucleotide variant 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_000252.2(MTM1):c.742G>A (p.Gly248Ser) single nucleotide variant not provided [RCV000482318] ChrX:150645746 [GRCh38]
ChrX:149814219 [GRCh37]
ChrX:Xq28
conflicting interpretations of pathogenicity|uncertain significance
NM_000252.2(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_000252.2(MTM1):c.1178dup (p.Leu393fs) duplication Severe X-linked myotubular myopathy [RCV000499983] ChrX:150657943..150657944 [GRCh38]
ChrX:149826416..149826417 [GRCh37]
ChrX:Xq28
pathogenic
NM_000252.2(MTM1):c.342+1G>A single nucleotide variant Severe X-linked myotubular myopathy [RCV000500214] ChrX:150614700 [GRCh38]
ChrX:149783173 [GRCh37]
ChrX:Xq28
pathogenic
NM_000252.2(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
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
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_000252.2(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_000252.2(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_000252.2(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_000252.2(MTM1):c.136+17A>G single nucleotide variant not specified [RCV000613451] ChrX:150596587 [GRCh38]
ChrX:149765051 [GRCh37]
ChrX:Xq28
benign
NM_000252.2(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_000252.2(MTM1):c.867+17A>G single nucleotide variant not specified [RCV000608943] ChrX:150645888 [GRCh38]
ChrX:149814361 [GRCh37]
ChrX:Xq28
likely benign
NM_000252.2(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_000252.2(MTM1):c.1724A>G (p.Gln575Arg) single nucleotide variant Severe X-linked myotubular myopathy [RCV000636895] ChrX:150671507 [GRCh38]
ChrX:149839980 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000252.2(MTM1):c.1210G>A (p.Glu404Lys) single nucleotide variant Severe X-linked myotubular myopathy [RCV000636898] ChrX:150657977 [GRCh38]
ChrX:149826450 [GRCh37]
ChrX:Xq28
pathogenic
NM_000252.2(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_000252.2(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_000252.2(MTM1):c.1713T>C (p.Leu571=) single nucleotide variant not provided [RCV000636902] 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
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_000252.2(MTM1):c.700G>C (p.Glu234Gln) single nucleotide variant not provided [RCV000659181] ChrX:150645704 [GRCh38]
ChrX:149814177 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000252.2(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_000252.2(MTM1):c.1667G>A (p.Arg556His) single nucleotide variant Severe X-linked myotubular myopathy [RCV000699135] ChrX:150671450 [GRCh38]
ChrX:149839923 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000252.2(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_000252.2(MTM1):c.481G>A (p.Val161Met) single nucleotide variant Severe X-linked myotubular myopathy [RCV000693657] ChrX:150638979 [GRCh38]
ChrX:149807452 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000252.2(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 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 Autistic disorder of childhood onset [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.1509C>T (p.Asn503=) single nucleotide variant not provided [RCV000921832] 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] ChrX:150598631 [GRCh38]
ChrX:149767095 [GRCh37]
ChrX:Xq28
benign
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 not provided [RCV000981924] 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
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_000252.2(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_000252.2(MTM1):c.1053+1G>A single nucleotide variant Severe X-linked myotubular myopathy [RCV000781956] ChrX:150649902 [GRCh38]
ChrX:149818375 [GRCh37]
ChrX:Xq28
pathogenic
NM_000252.2(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_000252.2(MTM1):c.1381C>T (p.Gln461Ter) single nucleotide variant Severe X-linked myotubular myopathy [RCV000781954] 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 Severe X-linked myotubular myopathy [RCV000920576] ChrX:150660393 [GRCh38]
ChrX:149828866 [GRCh37]
ChrX:Xq28
likely benign
NM_000252.3(MTM1):c.1065A>G (p.Thr355=) single nucleotide variant not provided [RCV000888783] ChrX:150657832 [GRCh38]
ChrX:149826305 [GRCh37]
ChrX:Xq28
likely benign
NM_000252.3(MTM1):c.1662G>A (p.Glu554=) single nucleotide variant not provided [RCV000981058] 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 Severe X-linked myotubular myopathy [RCV000939442] ChrX:150598685 [GRCh38]
ChrX:149767149 [GRCh37]
ChrX:Xq28
benign
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 not provided [RCV000905062] ChrX:150619115 [GRCh38]
ChrX:149787588 [GRCh37]
ChrX:Xq28
likely benign
NM_000252.3(MTM1):c.753G>A (p.Gly251=) single nucleotide variant not provided [RCV000980220] 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_000252.2(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_000252.2(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_000252.2(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_000252.2(MTM1):c.529-257C>G single nucleotide variant not provided [RCV000831992] ChrX:150641012 [GRCh38]
ChrX:149809485 [GRCh37]
ChrX:Xq28
benign
NM_000252.2(MTM1):c.342+106C>G single nucleotide variant not provided [RCV000838281] ChrX:150614805 [GRCh38]
ChrX:149783278 [GRCh37]
ChrX:Xq28
benign
NM_000252.2(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_000252.2(MTM1):c.528+70G>A single nucleotide variant not provided [RCV000843367] ChrX:150639096 [GRCh38]
ChrX:149807569 [GRCh37]
ChrX:Xq28
benign
NM_000252.2(MTM1):c.1260+240A>G single nucleotide variant not provided [RCV000843369] ChrX:150658267 [GRCh38]
ChrX:149826740 [GRCh37]
ChrX:Xq28
benign
NM_000252.2(MTM1):c.1533C>A (p.Asn511Lys) single nucleotide variant Myopathy, centronuclear, 1 [RCV000785044] ChrX:150663498 [GRCh38]
ChrX:149831971 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000252.2(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_000252.2(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.482_485TGGA[2] (p.Trp164fs) microsatellite Severe X-linked myotubular myopathy [RCV000990967] ChrX:150638980..150638983 [GRCh38]
ChrX:149807453..149807456 [GRCh37]
ChrX:Xq28
pathogenic
NM_000252.2(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_000252.2(MTM1):c.343-100A>G single nucleotide variant not provided [RCV000841896] ChrX:150618938 [GRCh38]
ChrX:149787411 [GRCh37]
ChrX:Xq28
likely benign
NM_000252.2(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_000252.2(MTM1):c.867+180A>C single nucleotide variant not provided [RCV000843344] ChrX:150646051 [GRCh38]
ChrX:149814524 [GRCh37]
ChrX:Xq28
benign
NM_000252.2(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_000252.2(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_000252.2(MTM1):c.232-147G>C single nucleotide variant not provided [RCV000843347] ChrX:150614442 [GRCh38]
ChrX:149782915 [GRCh37]
ChrX:Xq28
benign
NM_000252.2(MTM1):c.867+13A>C single nucleotide variant not provided [RCV000827363] ChrX:150645884 [GRCh38]
ChrX:149814357 [GRCh37]
ChrX:Xq28
likely benign
NM_000252.2(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_000252.2(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 not provided [RCV000936301] 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] 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.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 Severe X-linked myotubular myopathy [RCV000875386] ChrX:150671576 [GRCh38]
ChrX:149840049 [GRCh37]
ChrX:Xq28
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 not provided [RCV000945409] ChrX:150645787 [GRCh38]
ChrX:149814260 [GRCh37]
ChrX:Xq28
benign
NM_000252.3(MTM1):c.64-7T>C single nucleotide variant not provided [RCV000975621] ChrX:150596491 [GRCh38]
ChrX:149764955 [GRCh37]
ChrX:Xq28
likely benign
NM_000252.3(MTM1):c.1194G>A (p.Arg398=) single nucleotide variant not provided [RCV000978224] ChrX:150657961 [GRCh38]
ChrX:149826434 [GRCh37]
ChrX:Xq28
likely benign
NM_000252.3(MTM1):c.1008T>C (p.His336=) single nucleotide variant not provided [RCV000978709] 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
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 not provided [RCV000911758] ChrX:150649778 [GRCh38]
ChrX:149818251 [GRCh37]
ChrX:Xq28
likely benign
NM_000252.3(MTM1):c.447A>G (p.Pro149=) single nucleotide variant not provided [RCV000912677] ChrX:150638945 [GRCh38]
ChrX:149807418 [GRCh37]
ChrX:Xq28
likely 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
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 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 Xq28(chrX:149747506-150037141)x3 copy number gain not provided [RCV001260063] ChrX:149747506..150037141 [GRCh37]
ChrX:Xq28
uncertain significance
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.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.528+7T>C single nucleotide variant Severe X-linked myotubular myopathy [RCV001279581] ChrX:150639033 [GRCh38]
ChrX:149807506 [GRCh37]
ChrX:Xq28
uncertain significance
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

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 Protein ENSP00000359423 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000400699 UniProtKB/TrEMBL
Ensembl Transcript ENST00000306167 ENTREZGENE
  ENST00000370396 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000424519 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 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, UniProtKB/TrEMBL
NCBI Gene 4534 ENTREZGENE
OMIM 300415 OMIM
  310400 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 SSF52799 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024RC06 ENTREZGENE, UniProtKB/TrEMBL
  C9J2A2_HUMAN UniProtKB/TrEMBL
  MTM1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A6NDB1 UniProtKB/Swiss-Prot
  B7Z491 UniProtKB/Swiss-Prot
  F2Z330 UniProtKB/Swiss-Prot
  Q8NEL1 UniProtKB/Swiss-Prot