MTMR2 (myotubularin related protein 2) - Rat Genome Database

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Gene: MTMR2 (myotubularin related protein 2) Homo sapiens
Analyze
Symbol: MTMR2
Name: myotubularin related protein 2
RGD ID: 1323545
HGNC Page HGNC
Description: Exhibits phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity and phosphatidylinositol-3-phosphatase activity. Involved in phosphatidylinositol dephosphorylation and regulation of phosphatidylinositol dephosphorylation. Localizes to cytosol and nucleus. Implicated in Charcot-Marie-Tooth disease type 4B1.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CMT4B; CMT4B1; KIAA1073; myotubularin-related protein 2; phosphatidylinositol-3,5-bisphosphate 3-phosphatase; phosphatidylinositol-3-phosphatase; phosphatidylinositol-3-phosphate phosphatase; phosphoinositide-3-phosphatase
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 Ensembl1195,821,766 - 95,925,315 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl1195,832,880 - 95,925,315 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl1195,832,882 - 95,925,315 (-)EnsemblGRCh38hg38GRCh38
GRCh381195,832,880 - 95,924,110 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371195,566,044 - 95,657,271 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361195,205,694 - 95,296,920 (-)NCBINCBI36hg18NCBI36
Build 341195,205,693 - 95,296,920NCBI
Celera1192,864,432 - 92,955,746 (-)NCBI
Cytogenetic Map11q21NCBI
HuRef1191,631,843 - 91,723,157 (-)NCBIHuRef
CHM1_11195,449,060 - 95,540,399 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:8640223   PMID:9736772   PMID:10470851   PMID:10737800   PMID:10802647   PMID:11835375   PMID:11846405   PMID:12398840   PMID:12477932   PMID:12668758   PMID:12837694   PMID:12925573  
PMID:14690594   PMID:15123239   PMID:15342556   PMID:15489334   PMID:15998640   PMID:16344560   PMID:16410353   PMID:16787938   PMID:17336078   PMID:17880751   PMID:18429927   PMID:18570454  
PMID:18774718   PMID:19322201   PMID:19416867   PMID:20301532   PMID:20301641   PMID:20410104   PMID:20709679   PMID:21372139   PMID:21510942   PMID:21741241   PMID:21873635   PMID:22863883  
PMID:22939629   PMID:23378027   PMID:23781969   PMID:25659891   PMID:25737280   PMID:27432908   PMID:27466180   PMID:27880917   PMID:28065597   PMID:28190646   PMID:28514442   PMID:28675297  
PMID:28718761   PMID:28934386   PMID:29987050   PMID:31113461   PMID:31343991  


Genomics

Comparative Map Data
MTMR2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1195,821,766 - 95,925,315 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl1195,832,880 - 95,925,315 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl1195,832,882 - 95,925,315 (-)EnsemblGRCh38hg38GRCh38
GRCh381195,832,880 - 95,924,110 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371195,566,044 - 95,657,271 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361195,205,694 - 95,296,920 (-)NCBINCBI36hg18NCBI36
Build 341195,205,693 - 95,296,920NCBI
Celera1192,864,432 - 92,955,746 (-)NCBI
Cytogenetic Map11q21NCBI
HuRef1191,631,843 - 91,723,157 (-)NCBIHuRef
CHM1_11195,449,060 - 95,540,399 (-)NCBICHM1_1
Mtmr2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39913,660,397 - 13,720,192 (+)NCBIGRCm39mm39
GRCm39 Ensembl913,659,706 - 13,717,777 (+)Ensembl
GRCm38913,747,260 - 13,808,896 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl913,748,410 - 13,806,481 (+)EnsemblGRCm38mm10GRCm38
MGSCv37913,553,625 - 13,610,925 (+)NCBIGRCm37mm9NCBIm37
MGSCv36913,498,807 - 13,556,194 (+)NCBImm8
Celera911,027,704 - 11,084,917 (+)NCBICelera
Cytogenetic Map9A1NCBI
Mtmr2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2810,617,993 - 10,670,724 (+)NCBI
Rnor_6.0 Ensembl812,284,528 - 12,333,316 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0812,283,471 - 12,334,014 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0812,233,710 - 12,284,290 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4810,556,644 - 10,606,844 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1810,557,636 - 10,605,951 (+)NCBI
Celera812,118,312 - 12,168,683 (+)NCBICelera
Cytogenetic Map8q12NCBI
Mtmr2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955412693,743 - 750,154 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955412693,743 - 764,377 (-)NCBIChiLan1.0ChiLan1.0
MTMR2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11194,367,038 - 94,457,138 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1194,367,038 - 94,457,138 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01190,839,577 - 90,929,731 (-)NCBIMhudiblu_PPA_v0panPan3
MTMR2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1215,194,772 - 5,316,441 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl215,194,604 - 5,315,375 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha215,205,909 - 5,327,596 (+)NCBI
ROS_Cfam_1.0215,366,974 - 5,491,223 (+)NCBI
UMICH_Zoey_3.1215,164,226 - 5,285,897 (+)NCBI
UNSW_CanFamBas_1.0215,225,833 - 5,347,545 (+)NCBI
UU_Cfam_GSD_1.0215,273,521 - 5,395,231 (+)NCBI
Mtmr2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494780,672,667 - 80,755,065 (-)NCBI
SpeTri2.0NW_0049367001,790,592 - 1,873,019 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MTMR2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl927,854,491 - 27,974,423 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1927,864,335 - 27,974,448 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2931,847,124 - 31,938,450 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MTMR2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1187,090,401 - 87,181,057 (-)NCBI
ChlSab1.1 Ensembl187,087,191 - 87,180,497 (-)Ensembl
Mtmr2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473540,673,156 - 40,770,693 (-)NCBI

Position Markers
SHGC-32290  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371195,567,280 - 95,567,405UniSTSGRCh37
Build 361195,206,928 - 95,207,053RGDNCBI36
Celera1192,865,668 - 92,865,793RGD
Cytogenetic Map11q22UniSTS
HuRef1191,633,079 - 91,633,204UniSTS
Stanford-G3 RH Map114196.0UniSTS
Whitehead-RH Map11416.2UniSTS
GeneMap99-G3 RH Map114196.0UniSTS
RH119986  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371195,644,742 - 95,645,059UniSTSGRCh37
Build 361195,284,390 - 95,284,707RGDNCBI36
Celera1192,943,116 - 92,943,433RGD
Cytogenetic Map11q22UniSTS
HuRef1191,710,530 - 91,710,847UniSTS
TNG Radiation Hybrid Map1143899.0UniSTS
WI-21645  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371195,567,289 - 95,567,554UniSTSGRCh37
Build 361195,206,937 - 95,207,202RGDNCBI36
Celera1192,865,677 - 92,865,942RGD
Cytogenetic Map11q22UniSTS
HuRef1191,633,088 - 91,633,353UniSTS
GeneMap99-GB4 RH Map11319.17UniSTS
Whitehead-RH Map11416.2UniSTS
NCBI RH Map11794.1UniSTS
SHGC-52606  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371195,643,005 - 95,643,174UniSTSGRCh37
Build 361195,282,653 - 95,282,822RGDNCBI36
Celera1192,941,379 - 92,941,548RGD
Cytogenetic Map11q22UniSTS
HuRef1191,708,791 - 91,708,960UniSTS
TNG Radiation Hybrid Map1143899.0UniSTS
RH45560  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371195,578,815 - 95,578,960UniSTSGRCh37
Build 361195,218,463 - 95,218,608RGDNCBI36
Celera1192,877,203 - 92,877,350RGD
Cytogenetic Map11q22UniSTS
HuRef1191,644,614 - 91,644,761UniSTS
GeneMap99-GB4 RH Map11319.17UniSTS
NCBI RH Map11794.1UniSTS
RH69570  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371195,610,536 - 95,610,703UniSTSGRCh37
Build 361195,250,184 - 95,250,351RGDNCBI36
Celera1192,908,921 - 92,909,088RGD
Cytogenetic Map11q22UniSTS
HuRef1191,676,338 - 91,676,505UniSTS
GeneMap99-GB4 RH Map11319.17UniSTS
NCBI RH Map11794.1UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3422
Count of miRNA genes:999
Interacting mature miRNAs:1178
Transcripts:ENST00000346299, ENST00000352297, ENST00000393223, ENST00000409459, ENST00000444541, ENST00000469574, ENST00000470011, ENST00000470293, ENST00000472423, ENST00000481642, ENST00000484818, ENST00000485740, ENST00000485988, ENST00000495134, ENST00000497683
Prediction methods:Microtar, Miranda, Rnahybrid
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 1778 1392 784 155 847 70 2597 875 1907 317 1345 1479 97 1126 1491 3 1
Low 661 1527 941 468 1031 394 1760 1322 1827 102 115 134 78 1 78 1297 3 1
Below cutoff 72 1 1 73 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001243571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_016156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_201278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_201281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB028996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI360884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL705005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC034474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC052990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF960838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG252116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM475570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP358035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX107577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA220281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA831307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR762520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GD143864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF455453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U58033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000346299   ⟹   ENSP00000345752
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,832,880 - 95,924,107 (-)Ensembl
RefSeq Acc Id: ENST00000352297   ⟹   ENSP00000343737
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,834,089 - 95,924,100 (-)Ensembl
RefSeq Acc Id: ENST00000393223   ⟹   ENSP00000376915
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,832,882 - 95,924,295 (-)Ensembl
RefSeq Acc Id: ENST00000409459   ⟹   ENSP00000386882
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,834,088 - 95,924,096 (-)Ensembl
RefSeq Acc Id: ENST00000444541   ⟹   ENSP00000396020
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,835,336 - 95,913,077 (-)Ensembl
RefSeq Acc Id: ENST00000469574
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,887,612 - 95,923,868 (-)Ensembl
RefSeq Acc Id: ENST00000470011
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,887,610 - 95,925,270 (-)Ensembl
RefSeq Acc Id: ENST00000470293
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,865,626 - 95,923,796 (-)Ensembl
RefSeq Acc Id: ENST00000472423
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,862,088 - 95,888,261 (-)Ensembl
RefSeq Acc Id: ENST00000481642
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,866,426 - 95,924,107 (-)Ensembl
RefSeq Acc Id: ENST00000484818
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,850,612 - 95,923,818 (-)Ensembl
RefSeq Acc Id: ENST00000485740
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,862,073 - 95,923,865 (-)Ensembl
RefSeq Acc Id: ENST00000485988
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,924,479 - 95,925,315 (-)Ensembl
RefSeq Acc Id: ENST00000495134
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,861,992 - 95,923,868 (-)Ensembl
RefSeq Acc Id: ENST00000497683
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,862,292 - 95,923,763 (-)Ensembl
RefSeq Acc Id: ENST00000674528   ⟹   ENSP00000501567
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,832,882 - 95,910,834 (-)Ensembl
RefSeq Acc Id: ENST00000674610   ⟹   ENSP00000501688
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,832,882 - 95,910,665 (-)Ensembl
RefSeq Acc Id: ENST00000674901
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,832,882 - 95,910,771 (-)Ensembl
RefSeq Acc Id: ENST00000674924   ⟹   ENSP00000502433
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,832,882 - 95,923,864 (-)Ensembl
RefSeq Acc Id: ENST00000674950   ⟹   ENSP00000502425
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,832,882 - 95,924,123 (-)Ensembl
RefSeq Acc Id: ENST00000674968   ⟹   ENSP00000502567
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,832,882 - 95,923,805 (-)Ensembl
RefSeq Acc Id: ENST00000674974   ⟹   ENSP00000502337
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,832,882 - 95,924,123 (-)Ensembl
RefSeq Acc Id: ENST00000674989   ⟹   ENSP00000502829
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,832,882 - 95,924,123 (-)Ensembl
RefSeq Acc Id: ENST00000675022   ⟹   ENSP00000502722
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,832,882 - 95,924,123 (-)Ensembl
RefSeq Acc Id: ENST00000675024
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,832,882 - 95,924,107 (-)Ensembl
RefSeq Acc Id: ENST00000675030   ⟹   ENSP00000502386
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,832,882 - 95,924,123 (-)Ensembl
RefSeq Acc Id: ENST00000675034
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,832,882 - 95,910,757 (-)Ensembl
RefSeq Acc Id: ENST00000675174   ⟹   ENSP00000502032
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,832,882 - 95,924,123 (-)Ensembl
RefSeq Acc Id: ENST00000675196   ⟹   ENSP00000501867
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,832,882 - 95,923,916 (-)Ensembl
RefSeq Acc Id: ENST00000675237
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,832,882 - 95,910,834 (-)Ensembl
RefSeq Acc Id: ENST00000675288   ⟹   ENSP00000501942
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,832,882 - 95,915,963 (-)Ensembl
RefSeq Acc Id: ENST00000675320   ⟹   ENSP00000502076
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,832,882 - 95,924,123 (-)Ensembl
RefSeq Acc Id: ENST00000675362   ⟹   ENSP00000501989
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,832,882 - 95,924,123 (-)Ensembl
RefSeq Acc Id: ENST00000675413
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,832,882 - 95,910,755 (-)Ensembl
RefSeq Acc Id: ENST00000675438   ⟹   ENSP00000502388
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,834,089 - 95,865,646 (-)Ensembl
RefSeq Acc Id: ENST00000675454   ⟹   ENSP00000501781
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,832,882 - 95,923,818 (-)Ensembl
RefSeq Acc Id: ENST00000675477   ⟹   ENSP00000501751
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,832,882 - 95,910,834 (-)Ensembl
RefSeq Acc Id: ENST00000675489   ⟹   ENSP00000501702
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,834,092 - 95,924,093 (-)Ensembl
RefSeq Acc Id: ENST00000675495
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,832,882 - 95,924,131 (-)Ensembl
RefSeq Acc Id: ENST00000675636   ⟹   ENSP00000501850
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,832,882 - 95,910,843 (-)Ensembl
RefSeq Acc Id: ENST00000675652   ⟹   ENSP00000502694
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,832,882 - 95,924,123 (-)Ensembl
RefSeq Acc Id: ENST00000675660   ⟹   ENSP00000502824
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,832,882 - 95,910,739 (-)Ensembl
RefSeq Acc Id: ENST00000675767
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,832,882 - 95,924,101 (-)Ensembl
RefSeq Acc Id: ENST00000675807   ⟹   ENSP00000501640
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,834,089 - 95,923,865 (-)Ensembl
RefSeq Acc Id: ENST00000675848   ⟹   ENSP00000502057
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,832,882 - 95,924,123 (-)Ensembl
RefSeq Acc Id: ENST00000675896   ⟹   ENSP00000502487
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,821,766 - 95,924,123 (-)Ensembl
RefSeq Acc Id: ENST00000675910   ⟹   ENSP00000502622
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,832,882 - 95,924,123 (-)Ensembl
RefSeq Acc Id: ENST00000675922   ⟹   ENSP00000502168
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,832,882 - 95,924,123 (-)Ensembl
RefSeq Acc Id: ENST00000675933   ⟹   ENSP00000502575
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,832,882 - 95,910,755 (-)Ensembl
RefSeq Acc Id: ENST00000675957
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,832,882 - 95,923,867 (-)Ensembl
RefSeq Acc Id: ENST00000675981   ⟹   ENSP00000502204
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,832,882 - 95,923,864 (-)Ensembl
RefSeq Acc Id: ENST00000676027   ⟹   ENSP00000502405
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,832,882 - 95,924,090 (-)Ensembl
RefSeq Acc Id: ENST00000676146   ⟹   ENSP00000502583
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,832,882 - 95,924,123 (-)Ensembl
RefSeq Acc Id: ENST00000676166   ⟹   ENSP00000501632
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,832,882 - 95,923,864 (-)Ensembl
RefSeq Acc Id: ENST00000676177   ⟹   ENSP00000501635
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,832,882 - 95,924,123 (-)Ensembl
RefSeq Acc Id: ENST00000676261   ⟹   ENSP00000501675
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,834,103 - 95,924,098 (-)Ensembl
RefSeq Acc Id: ENST00000676268   ⟹   ENSP00000502444
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,832,882 - 95,924,123 (-)Ensembl
RefSeq Acc Id: ENST00000676272   ⟹   ENSP00000501601
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,832,882 - 95,924,123 (-)Ensembl
RefSeq Acc Id: ENST00000676378   ⟹   ENSP00000502736
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,832,882 - 95,915,963 (-)Ensembl
RefSeq Acc Id: ENST00000676388   ⟹   ENSP00000501866
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,832,882 - 95,924,123 (-)Ensembl
RefSeq Acc Id: ENST00000676393
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,832,882 - 95,910,757 (-)Ensembl
RefSeq Acc Id: ENST00000676432
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,832,882 - 95,924,100 (-)Ensembl
RefSeq Acc Id: ENST00000676440   ⟹   ENSP00000501926
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,832,882 - 95,923,864 (-)Ensembl
RefSeq Acc Id: NM_001243571   ⟹   NP_001230500
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381195,832,880 - 95,924,107 (-)NCBI
GRCh371195,566,044 - 95,657,371 (-)NCBI
HuRef1191,631,843 - 91,723,157 (-)NCBI
CHM1_11195,449,060 - 95,540,399 (-)NCBI
Sequence:
RefSeq Acc Id: NM_016156   ⟹   NP_057240
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381195,832,880 - 95,924,107 (-)NCBI
GRCh371195,566,044 - 95,657,371 (-)ENTREZGENE
Build 361195,205,694 - 95,296,919 (-)NCBI Archive
HuRef1191,631,843 - 91,723,157 (-)ENTREZGENE
CHM1_11195,449,060 - 95,540,399 (-)NCBI
Sequence:
RefSeq Acc Id: NM_201278   ⟹   NP_958435
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381195,832,880 - 95,924,107 (-)NCBI
GRCh371195,566,044 - 95,657,371 (-)ENTREZGENE
Build 361195,205,694 - 95,296,920 (-)NCBI Archive
HuRef1191,631,843 - 91,723,157 (-)ENTREZGENE
CHM1_11195,449,060 - 95,540,399 (-)NCBI
Sequence:
RefSeq Acc Id: NM_201281   ⟹   NP_958438
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381195,832,880 - 95,924,107 (-)NCBI
GRCh371195,566,044 - 95,657,371 (-)ENTREZGENE
Build 361195,205,694 - 95,296,920 (-)NCBI Archive
HuRef1191,631,843 - 91,723,157 (-)ENTREZGENE
CHM1_11195,449,060 - 95,540,399 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005274374   ⟹   XP_005274431
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381195,832,883 - 95,923,865 (-)NCBI
GRCh371195,566,044 - 95,657,371 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005274375   ⟹   XP_005274432
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381195,832,883 - 95,924,110 (-)NCBI
GRCh371195,566,044 - 95,657,371 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_057240   ⟸   NM_016156
- Peptide Label: isoform 1
- UniProtKB: Q13614 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_958438   ⟸   NM_201281
- Peptide Label: isoform 2
- UniProtKB: Q13614 (UniProtKB/Swiss-Prot),   A0A024R3B7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_958435   ⟸   NM_201278
- Peptide Label: isoform 2
- UniProtKB: Q13614 (UniProtKB/Swiss-Prot),   A0A024R3B7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001230500   ⟸   NM_001243571
- Peptide Label: isoform 2
- UniProtKB: Q13614 (UniProtKB/Swiss-Prot),   A0A024R3B7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005274432   ⟸   XM_005274375
- Peptide Label: isoform X1
- UniProtKB: Q13614 (UniProtKB/Swiss-Prot),   A0A024R3B7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005274431   ⟸   XM_005274374
- Peptide Label: isoform X1
- UniProtKB: Q13614 (UniProtKB/Swiss-Prot),   A0A024R3B7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000345752   ⟸   ENST00000346299
RefSeq Acc Id: ENSP00000396020   ⟸   ENST00000444541
RefSeq Acc Id: ENSP00000343737   ⟸   ENST00000352297
RefSeq Acc Id: ENSP00000376915   ⟸   ENST00000393223
RefSeq Acc Id: ENSP00000386882   ⟸   ENST00000409459
RefSeq Acc Id: ENSP00000501567   ⟸   ENST00000674528
RefSeq Acc Id: ENSP00000502433   ⟸   ENST00000674924
RefSeq Acc Id: ENSP00000502829   ⟸   ENST00000674989
RefSeq Acc Id: ENSP00000502337   ⟸   ENST00000674974
RefSeq Acc Id: ENSP00000502567   ⟸   ENST00000674968
RefSeq Acc Id: ENSP00000502425   ⟸   ENST00000674950
RefSeq Acc Id: ENSP00000501688   ⟸   ENST00000674610
RefSeq Acc Id: ENSP00000502057   ⟸   ENST00000675848
RefSeq Acc Id: ENSP00000501640   ⟸   ENST00000675807
RefSeq Acc Id: ENSP00000502824   ⟸   ENST00000675660
RefSeq Acc Id: ENSP00000501850   ⟸   ENST00000675636
RefSeq Acc Id: ENSP00000502694   ⟸   ENST00000675652
RefSeq Acc Id: ENSP00000502388   ⟸   ENST00000675438
RefSeq Acc Id: ENSP00000501781   ⟸   ENST00000675454
RefSeq Acc Id: ENSP00000501751   ⟸   ENST00000675477
RefSeq Acc Id: ENSP00000501702   ⟸   ENST00000675489
RefSeq Acc Id: ENSP00000502204   ⟸   ENST00000675981
RefSeq Acc Id: ENSP00000502622   ⟸   ENST00000675910
RefSeq Acc Id: ENSP00000502575   ⟸   ENST00000675933
RefSeq Acc Id: ENSP00000502168   ⟸   ENST00000675922
RefSeq Acc Id: ENSP00000502487   ⟸   ENST00000675896
RefSeq Acc Id: ENSP00000502076   ⟸   ENST00000675320
RefSeq Acc Id: ENSP00000501989   ⟸   ENST00000675362
RefSeq Acc Id: ENSP00000501942   ⟸   ENST00000675288
RefSeq Acc Id: ENSP00000501867   ⟸   ENST00000675196
RefSeq Acc Id: ENSP00000502032   ⟸   ENST00000675174
RefSeq Acc Id: ENSP00000502722   ⟸   ENST00000675022
RefSeq Acc Id: ENSP00000502386   ⟸   ENST00000675030
RefSeq Acc Id: ENSP00000502444   ⟸   ENST00000676268
RefSeq Acc Id: ENSP00000501601   ⟸   ENST00000676272
RefSeq Acc Id: ENSP00000501675   ⟸   ENST00000676261
RefSeq Acc Id: ENSP00000501632   ⟸   ENST00000676166
RefSeq Acc Id: ENSP00000501635   ⟸   ENST00000676177
RefSeq Acc Id: ENSP00000502583   ⟸   ENST00000676146
RefSeq Acc Id: ENSP00000502405   ⟸   ENST00000676027
RefSeq Acc Id: ENSP00000501926   ⟸   ENST00000676440
RefSeq Acc Id: ENSP00000501866   ⟸   ENST00000676388
RefSeq Acc Id: ENSP00000502736   ⟸   ENST00000676378
Promoters
RGD ID:6789137
Promoter ID:HG_KWN:13996
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_201278,   NM_201281,   NR_023356,   OTTHUMT00000332620,   OTTHUMT00000332626,   OTTHUMT00000332627,   OTTHUMT00000332628,   OTTHUMT00000332629,   OTTHUMT00000332630,   OTTHUMT00000332631,   OTTHUMT00000332632,   UC009YWO.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361195,296,674 - 95,297,174 (-)MPROMDB
RGD ID:7221867
Promoter ID:EPDNEW_H16679
Type:initiation region
Name:MTMR2_2
Description:myotubularin related protein 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16680  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381195,910,735 - 95,910,795EPDNEW
RGD ID:7221869
Promoter ID:EPDNEW_H16680
Type:initiation region
Name:MTMR2_1
Description:myotubularin related protein 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16679  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381195,924,107 - 95,924,167EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_016156.5(MTMR2):c.1489G>A (p.Ala497Thr) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001337294]|not specified [RCV000517309] Chr11:95838198 [GRCh38]
Chr11:95571362 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.960T>C (p.Asp320=) single nucleotide variant not provided [RCV000552803] Chr11:95849707 [GRCh38]
Chr11:95582871 [GRCh37]
Chr11:11q21
likely benign
NM_016156.5(MTMR2):c.1910C>T (p.Thr637Ile) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000818115]|not provided [RCV000523478] Chr11:95835312 [GRCh38]
Chr11:95568476 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.507G>A (p.Gly169=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000549480] Chr11:95858594 [GRCh38]
Chr11:95591758 [GRCh37]
Chr11:11q21
likely benign
NM_016156.5(MTMR2):c.1276C>T (p.Gln426Ter) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000814403]|Charcot-Marie-Tooth disease, type 4B1 [RCV000006609] Chr11:95845063 [GRCh38]
Chr11:95578227 [GRCh37]
Chr11:11q21
pathogenic
MTMR2, IVS13, G-A, +1 single nucleotide variant Charcot-Marie-Tooth disease, type 4B1 [RCV000006610] Chr11:11q22 pathogenic
NM_016156.5(MTMR2):c.826G>T (p.Glu276Ter) single nucleotide variant Charcot-Marie-Tooth disease, type 4B1 [RCV000006611] Chr11:95849841 [GRCh38]
Chr11:95583005 [GRCh37]
Chr11:11q21
pathogenic
NM_016156.5(MTMR2):c.1444C>T (p.Gln482Ter) single nucleotide variant Charcot-Marie-Tooth disease, type 4B1 [RCV000006612] Chr11:95841652 [GRCh38]
Chr11:95574816 [GRCh37]
Chr11:11q21
pathogenic
MTMR2, 10-BP DEL/2-BP INS indel Charcot-Marie-Tooth disease, type 4B1 [RCV000006613] Chr11:11q22 pathogenic
NM_016156.5(MTMR2):c.894A>T (p.Glu298Asp) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172712]|Charcot-Marie-Tooth disease type 4 [RCV000542459]|Charcot-Marie-Tooth disease, type 4B1 [RCV001114205]|not provided [RCV000712334] Chr11:95849773 [GRCh38]
Chr11:95582937 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.1861C>T (p.Arg621Ter) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000550000] Chr11:95835361 [GRCh38]
Chr11:95568525 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.262+4C>T single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000548665] Chr11:95865597 [GRCh38]
Chr11:95598761 [GRCh37]
Chr11:11q21
uncertain significance
GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1 copy number loss See cases [RCV000052710] Chr11:78232836..106779420 [GRCh38]
Chr11:77943882..106650146 [GRCh37]
Chr11:77621530..106155356 [NCBI36]
Chr11:11q14.1-22.3
pathogenic
GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1 copy number loss See cases [RCV000052711] Chr11:85242847..102920097 [GRCh38]
Chr11:84953891..102738968 [GRCh37]
Chr11:84631539..102296037 [NCBI36]
Chr11:11q14.1-22.2
pathogenic
NM_016156.5(MTMR2):c.1233G>A (p.Thr411=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173030]|Charcot-Marie-Tooth disease type 4 [RCV000205300]|Charcot-Marie-Tooth disease, type 4B1 [RCV000576743]|not specified [RCV000126849] Chr11:95845106 [GRCh38]
Chr11:95578270 [GRCh37]
Chr11:11q21
benign|likely benign
NM_001243571.2(MTMR2):c.-404+13C>T single nucleotide variant Charcot-Marie-Tooth disease [RCV001173028]|Charcot-Marie-Tooth disease, type 4B1 [RCV000625196]|not specified [RCV000126850] Chr11:95923862 [GRCh38]
Chr11:95657026 [GRCh37]
Chr11:11q21
benign|likely benign
NM_016156.5(MTMR2):c.1634A>G (p.Asn545Ser) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000465828]|Charcot-Marie-Tooth disease, type 4B1 [RCV001094173]|not provided [RCV000756356]|not specified [RCV000174782] Chr11:95836284 [GRCh38]
Chr11:95569448 [GRCh37]
Chr11:11q21
benign|likely benign
GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1 copy number loss See cases [RCV000133838] Chr11:75941754..98357960 [GRCh38]
Chr11:75652798..98228688 [GRCh37]
Chr11:75330446..97733898 [NCBI36]
Chr11:11q13.5-22.1
pathogenic
NM_016156.5(MTMR2):c.810A>C (p.Leu270Phe) single nucleotide variant Charcot-Marie-Tooth disease [RCV000144882]|Charcot-Marie-Tooth disease type 4 [RCV000204113] Chr11:95849857 [GRCh38]
Chr11:95583021 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.*53G>A single nucleotide variant Charcot-Marie-Tooth disease [RCV000144886] Chr11:95835237 [GRCh38]
Chr11:95568401 [GRCh37]
Chr11:11q21
uncertain significance
GRCh38/hg38 11q21(chr11:94324282-96081666)x3 copy number gain See cases [RCV000134847] Chr11:94324282..96081666 [GRCh38]
Chr11:94057448..95814830 [GRCh37]
Chr11:93697096..95454478 [NCBI36]
Chr11:11q21
uncertain significance
GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1 copy number loss See cases [RCV000138038] Chr11:91086659..109595582 [GRCh38]
Chr11:90819827..109466308 [GRCh37]
Chr11:90459475..108971518 [NCBI36]
Chr11:11q14.3-22.3
pathogenic
NM_016156.5(MTMR2):c.14C>G (p.Ser5Trp) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000167965]|not provided [RCV000431441] Chr11:95923941 [GRCh38]
Chr11:95657105 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.356G>A (p.Arg119Gln) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001213166]|not provided [RCV000178305] Chr11:95862273 [GRCh38]
Chr11:95595437 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.357+4A>C single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000195659] Chr11:95862268 [GRCh38]
Chr11:95595432 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.1034del (p.Asn345fs) deletion Charcot-Marie-Tooth disease type 4 [RCV000197687] Chr11:95847859 [GRCh38]
Chr11:95581023 [GRCh37]
Chr11:11q21
pathogenic
NM_016156.5(MTMR2):c.130G>A (p.Val44Ile) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001086624]|not provided [RCV000712332] Chr11:95888212 [GRCh38]
Chr11:95621376 [GRCh37]
Chr11:11q21
benign
NM_016156.5(MTMR2):c.1523T>C (p.Ile508Thr) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000203870] Chr11:95838164 [GRCh38]
Chr11:95571328 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.56C>T (p.Pro19Leu) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172710]|Charcot-Marie-Tooth disease type 4 [RCV001062024]|not provided [RCV000712333] Chr11:95923899 [GRCh38]
Chr11:95657063 [GRCh37]
Chr11:11q21
likely benign|uncertain significance
NM_016156.5(MTMR2):c.1336G>A (p.Glu446Lys) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172709]|Charcot-Marie-Tooth disease type 4 [RCV000234705]|Charcot-Marie-Tooth disease, type 4B1 [RCV001094211]|not provided [RCV000724937] Chr11:95845003 [GRCh38]
Chr11:95578167 [GRCh37]
Chr11:11q21
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016156.5(MTMR2):c.1855T>C (p.Ser619Pro) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172718]|Charcot-Marie-Tooth disease type 4 [RCV001084287]|Charcot-Marie-Tooth disease, type 4B1 [RCV001112850]|not provided [RCV000219297] Chr11:95835367 [GRCh38]
Chr11:95568531 [GRCh37]
Chr11:11q21
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_201278.3(MTMR2):c.537_539TGA[1] (p.Asp180del) microsatellite Charcot-Marie-Tooth disease type 4 [RCV000234178] Chr11:95850646..95850648 [GRCh38]
Chr11:95583810..95583812 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.1402G>C (p.Asp468His) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172715]|Charcot-Marie-Tooth disease type 4 [RCV000228469]|not specified [RCV000516211] Chr11:95841694 [GRCh38]
Chr11:95574858 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.832C>T (p.Gln278Ter) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000228911] Chr11:95849835 [GRCh38]
Chr11:95582999 [GRCh37]
Chr11:11q21
pathogenic
NM_016156.5(MTMR2):c.1106T>C (p.Ile369Thr) single nucleotide variant not provided [RCV000757482] Chr11:95847787 [GRCh38]
Chr11:95580951 [GRCh37]
Chr11:11q21
conflicting interpretations of pathogenicity|uncertain significance
NM_016156.5(MTMR2):c.1661C>T (p.Pro554Leu) single nucleotide variant not provided [RCV000757483] Chr11:95836257 [GRCh38]
Chr11:95569421 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.952A>G (p.Ile318Val) single nucleotide variant not provided [RCV000235773] Chr11:95849715 [GRCh38]
Chr11:95582879 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.80G>C (p.Ser27Thr) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000805825]|Charcot-Marie-Tooth disease, type 4B1 [RCV001110930]|not provided [RCV000236101] Chr11:95923875 [GRCh38]
Chr11:95657039 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.186+9A>G single nucleotide variant Charcot-Marie-Tooth disease [RCV001172723]|not specified [RCV000599758] Chr11:95888147 [GRCh38]
Chr11:95621311 [GRCh37]
Chr11:11q21
likely benign
NM_016156.5(MTMR2):c.8A>C (p.Lys3Thr) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173025]|Charcot-Marie-Tooth disease type 4 [RCV000364809]|Charcot-Marie-Tooth disease, type 4B1 [RCV000576747]|not specified [RCV000242172] Chr11:95923947 [GRCh38]
Chr11:95657111 [GRCh37]
Chr11:11q21
benign
NM_001243571.2(MTMR2):c.915C>T (p.Thr305=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173024]|Charcot-Marie-Tooth disease type 4 [RCV000374263]|Charcot-Marie-Tooth disease, type 4B1 [RCV000576537]|not specified [RCV000250417] Chr11:95847762 [GRCh38]
Chr11:95580926 [GRCh37]
Chr11:11q21
benign
NM_016156.5(MTMR2):c.*207A>G single nucleotide variant Charcot-Marie-Tooth disease, type 4B1 [RCV000301391] Chr11:95835083 [GRCh38]
Chr11:95568247 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.*1226_*1228del deletion Charcot-Marie-Tooth disease type 4 [RCV000268457] Chr11:95834062..95834064 [GRCh38]
Chr11:95567226..95567228 [GRCh37]
Chr11:11q21
benign
NM_016156.5(MTMR2):c.184_186del (p.Arg62del) deletion Charcot-Marie-Tooth disease type 4 [RCV000458824]|not specified [RCV000506336] Chr11:95888156..95888158 [GRCh38]
Chr11:95621320..95621322 [GRCh37]
Chr11:11q21
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016156.5(MTMR2):c.1488C>T (p.Thr496=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000546779]|Charcot-Marie-Tooth disease, type 4B1 [RCV001094210]|not specified [RCV000443255] Chr11:95838199 [GRCh38]
Chr11:95571363 [GRCh37]
Chr11:11q21
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016156.5(MTMR2):c.1805C>G (p.Ala602Gly) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790126]|Charcot-Marie-Tooth disease type 4 [RCV000470802]|Charcot-Marie-Tooth disease, type 4B1 [RCV001094172]|not provided [RCV001288251]|not specified [RCV000608107] Chr11:95835417 [GRCh38]
Chr11:95568581 [GRCh37]
Chr11:11q21
benign|likely benign|uncertain significance
NM_016156.5(MTMR2):c.*133C>G single nucleotide variant Charcot-Marie-Tooth disease, type 4B1 [RCV000398093] Chr11:95835157 [GRCh38]
Chr11:95568321 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.*1568C>T single nucleotide variant Charcot-Marie-Tooth disease, type 4B1 [RCV000398568] Chr11:95833722 [GRCh38]
Chr11:95566886 [GRCh37]
Chr11:11q21
benign
NM_016156.5(MTMR2):c.-222G>C single nucleotide variant Charcot-Marie-Tooth disease, type 4B1 [RCV000306520] Chr11:95924176 [GRCh38]
Chr11:95657340 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.1551C>T (p.Phe517=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000654229]|Charcot-Marie-Tooth disease, type 4B1 [RCV001094174]|not specified [RCV000605637] Chr11:95838136 [GRCh38]
Chr11:95571300 [GRCh37]
Chr11:11q21
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016156.5(MTMR2):c.*910T>A single nucleotide variant Charcot-Marie-Tooth disease, type 4B1 [RCV000289740] Chr11:95834380 [GRCh38]
Chr11:95567544 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.*1066T>C single nucleotide variant Charcot-Marie-Tooth disease, type 4B1 [RCV000329500] Chr11:95834224 [GRCh38]
Chr11:95567388 [GRCh37]
Chr11:11q21
benign|likely benign
NM_016156.5(MTMR2):c.*1934T>C single nucleotide variant Charcot-Marie-Tooth disease, type 4B1 [RCV000291350] Chr11:95833356 [GRCh38]
Chr11:95566520 [GRCh37]
Chr11:11q21
benign
NM_016156.5(MTMR2):c.*1444C>G single nucleotide variant Charcot-Marie-Tooth disease, type 4B1 [RCV000311733] Chr11:95833846 [GRCh38]
Chr11:95567010 [GRCh37]
Chr11:11q21
benign|likely benign
NM_001243571.2(MTMR2):c.354+11T>C single nucleotide variant Charcot-Marie-Tooth disease [RCV001173031]|Charcot-Marie-Tooth disease, type 4B1 [RCV000625195] Chr11:95858520 [GRCh38]
Chr11:95591684 [GRCh37]
Chr11:11q21
benign|likely benign|uncertain significance
NM_016156.5(MTMR2):c.1756C>A (p.Arg586=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173026]|Charcot-Marie-Tooth disease type 4 [RCV000460275]|Charcot-Marie-Tooth disease, type 4B1 [RCV000576540] Chr11:95836162 [GRCh38]
Chr11:95569326 [GRCh37]
Chr11:11q21
benign|likely benign
NM_016156.5(MTMR2):c.1339G>A (p.Val447Ile) single nucleotide variant Charcot-Marie-Tooth disease, type 4B1 [RCV000386795] Chr11:95845000 [GRCh38]
Chr11:95578164 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.*1822T>G single nucleotide variant Charcot-Marie-Tooth disease, type 4B1 [RCV000315228] Chr11:95833468 [GRCh38]
Chr11:95566632 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.1862G>A (p.Arg621Gln) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172721]|Charcot-Marie-Tooth disease type 4 [RCV000528284]|Charcot-Marie-Tooth disease, type 4B1 [RCV001094170]|not provided [RCV000859232] Chr11:95835360 [GRCh38]
Chr11:95568524 [GRCh37]
Chr11:11q21
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016156.5(MTMR2):c.*679A>C single nucleotide variant Charcot-Marie-Tooth disease, type 4B1 [RCV000388821] Chr11:95834611 [GRCh38]
Chr11:95567775 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.*2406C>T single nucleotide variant Charcot-Marie-Tooth disease, type 4B1 [RCV000260908] Chr11:95832884 [GRCh38]
Chr11:95566048 [GRCh37]
Chr11:11q21
benign|likely benign
NM_016156.5(MTMR2):c.*1089C>G single nucleotide variant Charcot-Marie-Tooth disease, type 4B1 [RCV000264877] Chr11:95834201 [GRCh38]
Chr11:95567365 [GRCh37]
Chr11:11q21
likely benign|uncertain significance
NM_016156.5(MTMR2):c.186+5624TTTTA[6] microsatellite Charcot-Marie-Tooth disease type 4 [RCV000340158] Chr11:95882498..95882502 [GRCh38]
Chr11:95615662..95615666 [GRCh37]
Chr11:11q21
benign
NM_016156.5(MTMR2):c.*2014T>G single nucleotide variant Charcot-Marie-Tooth disease, type 4B1 [RCV000340225] Chr11:95833276 [GRCh38]
Chr11:95566440 [GRCh37]
Chr11:11q21
benign|likely benign
NM_001243571.2(MTMR2):c.1288G>C (p.Glu430Gln) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173027]|Charcot-Marie-Tooth disease type 4 [RCV000465272]|Charcot-Marie-Tooth disease, type 4B1 [RCV000576414]|not specified [RCV000790244] Chr11:95838183 [GRCh38]
Chr11:95571347 [GRCh37]
Chr11:11q21
benign|likely benign|uncertain significance
NM_016156.5(MTMR2):c.*1419G>A single nucleotide variant Charcot-Marie-Tooth disease, type 4B1 [RCV000262209] Chr11:95833871 [GRCh38]
Chr11:95567035 [GRCh37]
Chr11:11q21
benign
NM_016156.5(MTMR2):c.*85A>C single nucleotide variant Charcot-Marie-Tooth disease, type 4B1 [RCV000297756] Chr11:95835205 [GRCh38]
Chr11:95568369 [GRCh37]
Chr11:11q21
benign|likely benign
NM_016156.5(MTMR2):c.*1396C>T single nucleotide variant Charcot-Marie-Tooth disease, type 4B1 [RCV000298704] Chr11:95833894 [GRCh38]
Chr11:95567058 [GRCh37]
Chr11:11q21
benign|likely benign
NM_016156.5(MTMR2):c.655-8A>G single nucleotide variant Charcot-Marie-Tooth disease, type 4B1 [RCV000279662] Chr11:95850757 [GRCh38]
Chr11:95583921 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.*1826C>A single nucleotide variant Charcot-Marie-Tooth disease, type 4B1 [RCV000393241] Chr11:95833464 [GRCh38]
Chr11:95566628 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.*837G>A single nucleotide variant Charcot-Marie-Tooth disease, type 4B1 [RCV000344681] Chr11:95834453 [GRCh38]
Chr11:95567617 [GRCh37]
Chr11:11q21
likely benign|uncertain significance
NM_016156.5(MTMR2):c.*1888del deletion Charcot-Marie-Tooth disease type 4 [RCV000346241] Chr11:95833402 [GRCh38]
Chr11:95566566 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.547G>T (p.Ala183Ser) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000527863]|Charcot-Marie-Tooth disease, type 4B1 [RCV001094090] Chr11:95858554 [GRCh38]
Chr11:95591718 [GRCh37]
Chr11:11q21
benign|likely benign|uncertain significance
NM_016156.5(MTMR2):c.*549G>A single nucleotide variant Charcot-Marie-Tooth disease, type 4B1 [RCV000349494] Chr11:95834741 [GRCh38]
Chr11:95567905 [GRCh37]
Chr11:11q21
benign
NM_201278.3(MTMR2):c.*345_*346CT[1] microsatellite Charcot-Marie-Tooth disease type 4 [RCV000398071] Chr11:95834942..95834943 [GRCh38]
Chr11:95568106..95568107 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.*1684A>C single nucleotide variant Charcot-Marie-Tooth disease, type 4B1 [RCV000351410] Chr11:95833606 [GRCh38]
Chr11:95566770 [GRCh37]
Chr11:11q21
likely benign|uncertain significance
NM_016156.5(MTMR2):c.*1952G>A single nucleotide variant Charcot-Marie-Tooth disease, type 4B1 [RCV000376224] Chr11:95833338 [GRCh38]
Chr11:95566502 [GRCh37]
Chr11:11q21
benign|likely benign
NM_016156.5(MTMR2):c.*2187A>G single nucleotide variant Charcot-Marie-Tooth disease, type 4B1 [RCV000379521] Chr11:95833103 [GRCh38]
Chr11:95566267 [GRCh37]
Chr11:11q21
likely benign|uncertain significance
NM_016156.5(MTMR2):c.*987T>C single nucleotide variant Charcot-Marie-Tooth disease, type 4B1 [RCV000384099] Chr11:95834303 [GRCh38]
Chr11:95567467 [GRCh37]
Chr11:11q21
benign|uncertain significance
NM_016156.5(MTMR2):c.*2357T>C single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000315637] Chr11:95832933 [GRCh38]
Chr11:95566097 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.1450A>G (p.Ile484Val) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000332326] Chr11:95841646 [GRCh38]
Chr11:95574810 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.*660G>A single nucleotide variant Charcot-Marie-Tooth disease, type 4B1 [RCV000294542] Chr11:95834630 [GRCh38]
Chr11:95567794 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.212C>T (p.Ala71Val) single nucleotide variant Charcot-Marie-Tooth disease, type 4B1 [RCV000285112] Chr11:95865651 [GRCh38]
Chr11:95598815 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.*2038C>G single nucleotide variant Charcot-Marie-Tooth disease, type 4B1 [RCV000285165] Chr11:95833252 [GRCh38]
Chr11:95566416 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.*190G>A single nucleotide variant Charcot-Marie-Tooth disease, type 4B1 [RCV000337587] Chr11:95835100 [GRCh38]
Chr11:95568264 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.*1150C>T single nucleotide variant Charcot-Marie-Tooth disease, type 4B1 [RCV000323537] Chr11:95834140 [GRCh38]
Chr11:95567304 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.*1343_*1344del deletion Charcot-Marie-Tooth disease type 4 [RCV000353600] Chr11:95833946..95833947 [GRCh38]
Chr11:95567110..95567111 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.-82C>T single nucleotide variant Charcot-Marie-Tooth disease, type 4B1 [RCV000389988] Chr11:95924036 [GRCh38]
Chr11:95657200 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.1843C>G (p.Gln615Glu) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000654090]|Charcot-Marie-Tooth disease, type 4B1 [RCV001094171] Chr11:95835379 [GRCh38]
Chr11:95568543 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.*1425A>G single nucleotide variant Charcot-Marie-Tooth disease, type 4B1 [RCV000356977] Chr11:95833865 [GRCh38]
Chr11:95567029 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.*1100_*1103dup duplication Charcot-Marie-Tooth disease type 4 [RCV000378143] Chr11:95834186..95834187 [GRCh38]
Chr11:95567350..95567351 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.1674C>T (p.Ser558=) single nucleotide variant not provided [RCV000556923] Chr11:95836244 [GRCh38]
Chr11:95569408 [GRCh37]
Chr11:11q21
likely benign
NM_016156.5(MTMR2):c.1175T>C (p.Ile392Thr) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000558272] Chr11:95847718 [GRCh38]
Chr11:95580882 [GRCh37]
Chr11:11q21
uncertain significance
GRCh37/hg19 11q21(chr11:95512235-95991687)x3 copy number gain See cases [RCV000449162] Chr11:95512235..95991687 [GRCh37]
Chr11:11q21
uncertain significance
GRCh37/hg19 11q14.1-21(chr11:80318996-96116221)x1 copy number loss See cases [RCV000446395] Chr11:80318996..96116221 [GRCh37]
Chr11:11q14.1-21
pathogenic
NM_016156.5(MTMR2):c.825T>A (p.Pro275=) single nucleotide variant not specified [RCV000430912] Chr11:95849842 [GRCh38]
Chr11:95583006 [GRCh37]
Chr11:11q21
likely benign
NM_016156.5(MTMR2):c.1770+3A>G single nucleotide variant Charcot-Marie-Tooth disease [RCV001172713]|not specified [RCV000421188] Chr11:95836145 [GRCh38]
Chr11:95569309 [GRCh37]
Chr11:11q21
likely benign|uncertain significance
NM_016156.5(MTMR2):c.1431G>A (p.Ser477=) single nucleotide variant Charcot-Marie-Tooth disease, type 4B1 [RCV001114204]|not specified [RCV000424749] Chr11:95841665 [GRCh38]
Chr11:95574829 [GRCh37]
Chr11:11q21
likely benign|uncertain significance
NM_016156.5(MTMR2):c.1386A>G (p.Leu462=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173019]|Charcot-Marie-Tooth disease type 4 [RCV000536584]|not specified [RCV000438852] Chr11:95844953 [GRCh38]
Chr11:95578117 [GRCh37]
Chr11:11q21
likely benign|uncertain significance
NM_016156.5(MTMR2):c.279T>C (p.Tyr93=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172722]|Charcot-Marie-Tooth disease type 4 [RCV000862045]|not specified [RCV000421758] Chr11:95862350 [GRCh38]
Chr11:95595514 [GRCh37]
Chr11:11q21
likely benign
NM_016156.5(MTMR2):c.-35G>C single nucleotide variant not specified [RCV000440579] Chr11:95923989 [GRCh38]
Chr11:95657153 [GRCh37]
Chr11:11q21
likely benign
NM_016156.5(MTMR2):c.624A>G (p.Leu208=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000456377] Chr11:95857582 [GRCh38]
Chr11:95590746 [GRCh37]
Chr11:11q21
likely benign
NM_016156.5(MTMR2):c.1770+7_1770+19delinsC indel Charcot-Marie-Tooth disease [RCV001172724]|not specified [RCV000483602] Chr11:95836129..95836141 [GRCh38]
Chr11:95569293..95569305 [GRCh37]
Chr11:11q21
likely benign
NM_016156.5(MTMR2):c.749T>C (p.Ile250Thr) single nucleotide variant not provided [RCV000484689] Chr11:95850655 [GRCh38]
Chr11:95583819 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.240A>C (p.Pro80=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173017]|Charcot-Marie-Tooth disease type 4 [RCV000472065]|Charcot-Marie-Tooth disease, type 4B1 [RCV001110167] Chr11:95865623 [GRCh38]
Chr11:95598787 [GRCh37]
Chr11:11q21
benign|likely benign
NM_016156.5(MTMR2):c.54G>A (p.Arg18=) single nucleotide variant not provided [RCV000472508] Chr11:95923901 [GRCh38]
Chr11:95657065 [GRCh37]
Chr11:11q21
likely benign
NM_201278.3(MTMR2):c.1319_1320TA[3] (p.Ser442fs) microsatellite Charcot-Marie-Tooth disease type 4 [RCV000465990]|Charcot-Marie-Tooth disease, type 4B1 [RCV001270134] Chr11:95838148..95838149 [GRCh38]
Chr11:95571312..95571313 [GRCh37]
Chr11:11q21
pathogenic
GRCh37/hg19 11q14.2-22.3(chr11:88152458-109414650)x1 copy number loss See cases [RCV000510457] Chr11:88152458..109414650 [GRCh37]
Chr11:11q14.2-22.3
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_016156.5(MTMR2):c.444T>G (p.Ser148=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000526793] Chr11:95862016 [GRCh38]
Chr11:95595180 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.16A>T (p.Ser6Cys) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172717]|Charcot-Marie-Tooth disease type 4 [RCV000535242]|Charcot-Marie-Tooth disease, type 4B1 [RCV001110931]|not provided [RCV000992370] Chr11:95923939 [GRCh38]
Chr11:95657103 [GRCh37]
Chr11:11q21
benign|uncertain significance
NM_016156.5(MTMR2):c.469-9C>A single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000541676] Chr11:95858641 [GRCh38]
Chr11:95591805 [GRCh37]
Chr11:11q21
likely benign
NM_016156.5(MTMR2):c.1900C>T (p.Gln634Ter) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000533890] Chr11:95835322 [GRCh38]
Chr11:95568486 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.81-4G>C single nucleotide variant not specified [RCV000607841] Chr11:95888265 [GRCh38]
Chr11:95621429 [GRCh37]
Chr11:11q21
likely benign
NM_016156.5(MTMR2):c.522C>T (p.Ser174=) single nucleotide variant not provided [RCV000866903]|not specified [RCV000605930] Chr11:95858579 [GRCh38]
Chr11:95591743 [GRCh37]
Chr11:11q21
likely benign
NM_016156.5(MTMR2):c.1695T>C (p.Tyr565=) single nucleotide variant not specified [RCV000609981] Chr11:95836223 [GRCh38]
Chr11:95569387 [GRCh37]
Chr11:11q21
likely benign
NM_016156.5(MTMR2):c.1770G>A (p.Gln590=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000654051] Chr11:95836148 [GRCh38]
Chr11:95569312 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.1552G>A (p.Gly518Arg) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000654062] Chr11:95838135 [GRCh38]
Chr11:95571299 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.804+2T>G single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000654064] Chr11:95850598 [GRCh38]
Chr11:95583762 [GRCh37]
Chr11:11q21
likely pathogenic
NM_016156.5(MTMR2):c.408A>C (p.Glu136Asp) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000654075] Chr11:95862052 [GRCh38]
Chr11:95595216 [GRCh37]
Chr11:11q21
uncertain significance
NM_201278.3(MTMR2):c.244_245GT[2] (p.Val82_Cys83insTer) microsatellite Charcot-Marie-Tooth disease type 4 [RCV000654085] Chr11:95861995..95861996 [GRCh38]
Chr11:95595159..95595160 [GRCh37]
Chr11:11q21
pathogenic
NM_016156.5(MTMR2):c.1630A>G (p.Ile544Val) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000654088] Chr11:95836288 [GRCh38]
Chr11:95569452 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.431G>A (p.Arg144Gln) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000654096] Chr11:95862029 [GRCh38]
Chr11:95595193 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.1916del (p.Val639fs) deletion Charcot-Marie-Tooth disease type 4 [RCV000654126]|not provided [RCV000994700] Chr11:95835306 [GRCh38]
Chr11:95568470 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.604C>G (p.Pro202Ala) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172706]|Charcot-Marie-Tooth disease type 4 [RCV000654128]|Charcot-Marie-Tooth disease, type 4B1 [RCV001110165]|not provided [RCV000992371] Chr11:95857602 [GRCh38]
Chr11:95590766 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.355C>G (p.Arg119Gly) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000654136] Chr11:95862274 [GRCh38]
Chr11:95595438 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.993+1G>A single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000654174] Chr11:95849673 [GRCh38]
Chr11:95582837 [GRCh37]
Chr11:11q21
likely pathogenic
NM_016156.5(MTMR2):c.1741A>G (p.Ile581Val) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172726]|Charcot-Marie-Tooth disease type 4 [RCV000654177] Chr11:95836177 [GRCh38]
Chr11:95569341 [GRCh37]
Chr11:11q21
likely benign|uncertain significance
NM_016156.5(MTMR2):c.75G>A (p.Leu25=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000654201] Chr11:95923880 [GRCh38]
Chr11:95657044 [GRCh37]
Chr11:11q21
likely benign
NM_016156.5(MTMR2):c.1757G>A (p.Arg586Gln) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000654235] Chr11:95836161 [GRCh38]
Chr11:95569325 [GRCh37]
Chr11:11q21
likely benign
NM_016156.5(MTMR2):c.655-7C>T single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000654222] Chr11:95850756 [GRCh38]
Chr11:95583920 [GRCh37]
Chr11:11q21
likely benign
NM_016156.5(MTMR2):c.1770+7_1770+12del deletion Charcot-Marie-Tooth disease type 4 [RCV000654273] Chr11:95836136..95836141 [GRCh38]
Chr11:95569300..95569305 [GRCh37]
Chr11:11q21
benign
NM_016156.5(MTMR2):c.297C>T (p.Gly99=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173021]|Charcot-Marie-Tooth disease type 4 [RCV000654288] Chr11:95862332 [GRCh38]
Chr11:95595496 [GRCh37]
Chr11:11q21
likely benign
NM_016156.5(MTMR2):c.1303T>C (p.Leu435=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000654293] Chr11:95845036 [GRCh38]
Chr11:95578200 [GRCh37]
Chr11:11q21
likely benign
NM_016156.5(MTMR2):c.1480-20T>C single nucleotide variant not specified [RCV000611161] Chr11:95838227 [GRCh38]
Chr11:95571391 [GRCh37]
Chr11:11q21
likely benign
NM_016156.5(MTMR2):c.1446A>G (p.Gln482=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000700403]|not specified [RCV000600263] Chr11:95841650 [GRCh38]
Chr11:95574814 [GRCh37]
Chr11:11q21
likely benign|uncertain significance
NM_016156.5(MTMR2):c.1364G>A (p.Ser455Asn) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000698103] Chr11:95844975 [GRCh38]
Chr11:95578139 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.1164G>A (p.Trp388Ter) single nucleotide variant Charcot-Marie-Tooth disease, type 4B1 [RCV000664231] Chr11:95847729 [GRCh38]
Chr11:95580893 [GRCh37]
Chr11:11q21
pathogenic
NM_016156.5(MTMR2):c.804+1G>C single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000699617] Chr11:95850599 [GRCh38]
Chr11:95583763 [GRCh37]
Chr11:11q21
likely pathogenic
NM_016156.5(MTMR2):c.35C>T (p.Ser12Phe) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000685806] Chr11:95923920 [GRCh38]
Chr11:95657084 [GRCh37]
Chr11:11q21
uncertain significance
GRCh37/hg19 11q21(chr11:95512235-95991687)x3 copy number gain not provided [RCV000683337] Chr11:95512235..95991687 [GRCh37]
Chr11:11q21
uncertain significance
GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3 copy number gain not provided [RCV000683374] Chr11:71588805..116680918 [GRCh37]
Chr11:11q13.4-23.3
pathogenic
NM_016156.5(MTMR2):c.1511T>C (p.Phe504Ser) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000690123] Chr11:95838176 [GRCh38]
Chr11:95571340 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.1190C>G (p.Ala397Gly) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000707436] Chr11:95845149 [GRCh38]
Chr11:95578313 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.1770+4T>C single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000706065] Chr11:95836144 [GRCh38]
Chr11:95569308 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.1562T>A (p.Leu521His) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000705196] Chr11:95838125 [GRCh38]
Chr11:95571289 [GRCh37]
Chr11:11q21
uncertain significance
NM_201278.3(MTMR2):c.1662_1663AG[6] (p.Ala557fs) microsatellite Charcot-Marie-Tooth disease type 4 [RCV000699857] Chr11:95835336..95835337 [GRCh38]
Chr11:95568500..95568501 [GRCh37]
Chr11:11q21
likely pathogenic|uncertain significance
NM_016156.5(MTMR2):c.350T>C (p.Met117Thr) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000694260] Chr11:95862279 [GRCh38]
Chr11:95595443 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.232T>A (p.Leu78Met) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000703462] Chr11:95865631 [GRCh38]
Chr11:95598795 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.262+5G>A single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000692167] Chr11:95865596 [GRCh38]
Chr11:95598760 [GRCh37]
Chr11:11q21
uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11q14.1-23.2(chr11:80053454-113316236)x1 copy number loss not provided [RCV000737595] Chr11:80053454..113316236 [GRCh37]
Chr11:11q14.1-23.2
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_016156.6(MTMR2):c.1536A>G (p.Leu512=) single nucleotide variant not provided [RCV000873500] Chr11:95838151 [GRCh38]
Chr11:95571315 [GRCh37]
Chr11:11q21
likely benign
NM_016156.5(MTMR2):c.1768C>T (p.Gln590Ter) single nucleotide variant Charcot-Marie-Tooth disease, type 4B1 [RCV000761540] Chr11:95836150 [GRCh38]
Chr11:95569314 [GRCh37]
Chr11:11q21
pathogenic
NM_016156.6(MTMR2):c.404T>C (p.Val135Ala) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001044445] Chr11:95862056 [GRCh38]
Chr11:95595220 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.6(MTMR2):c.1651T>C (p.Phe551Leu) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001044707] Chr11:95836267 [GRCh38]
Chr11:95569431 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.6(MTMR2):c.984T>C (p.Val328=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000867425] Chr11:95849683 [GRCh38]
Chr11:95582847 [GRCh37]
Chr11:11q21
likely benign
NM_016156.6(MTMR2):c.33C>T (p.Gly11=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000867449] Chr11:95923922 [GRCh38]
Chr11:95657086 [GRCh37]
Chr11:11q21
likely benign
NM_016156.6(MTMR2):c.1480-4_1480-3insA insertion not provided [RCV000899406] Chr11:95838210..95838211 [GRCh38]
Chr11:95571374..95571375 [GRCh37]
Chr11:11q21
likely benign
NM_016156.6(MTMR2):c.298G>A (p.Ala100Thr) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000868021] Chr11:95862331 [GRCh38]
Chr11:95595495 [GRCh37]
Chr11:11q21
benign
NM_016156.6(MTMR2):c.1929A>G (p.Val643=) single nucleotide variant not provided [RCV000871648] Chr11:95835293 [GRCh38]
Chr11:95568457 [GRCh37]
Chr11:11q21
likely benign
NM_016156.6(MTMR2):c.766_767del (p.Lys256fs) deletion Charcot-Marie-Tooth disease, type 4B1 [RCV000991442] Chr11:95850637..95850638 [GRCh38]
Chr11:95583801..95583802 [GRCh37]
Chr11:11q21
likely pathogenic
NM_016156.6(MTMR2):c.10A>G (p.Ser4Gly) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001062030] Chr11:95923945 [GRCh38]
Chr11:95657109 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.6(MTMR2):c.1843C>T (p.Gln615Ter) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001071540] Chr11:95835379 [GRCh38]
Chr11:95568543 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.6(MTMR2):c.1763A>C (p.Lys588Thr) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001042365] Chr11:95836155 [GRCh38]
Chr11:95569319 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.6(MTMR2):c.721C>T (p.Pro241Ser) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001068894] Chr11:95850683 [GRCh38]
Chr11:95583847 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.6(MTMR2):c.352G>A (p.Glu118Lys) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001047478] Chr11:95862277 [GRCh38]
Chr11:95595441 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.6(MTMR2):c.8= (p.Lys3=) single nucleotide variant not specified [RCV000790240] Chr11:95923947 [GRCh38]
Chr11:95657111 [GRCh37]
Chr11:11q21
benign
NM_016156.6(MTMR2):c.1131= (p.Thr377=) single nucleotide variant not specified [RCV000790241] Chr11:95847762 [GRCh38]
Chr11:95580926 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.6(MTMR2):c.1480-4G>C single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000982757] Chr11:95838211 [GRCh38]
Chr11:95571375 [GRCh37]
Chr11:11q21
likely benign
NM_016156.6(MTMR2):c.1281C>A (p.Leu427=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000869282] Chr11:95845058 [GRCh38]
Chr11:95578222 [GRCh37]
Chr11:11q21
likely benign
NM_016156.6(MTMR2):c.1770+7G>C single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000862269] Chr11:95836141 [GRCh38]
Chr11:95569305 [GRCh37]
Chr11:11q21
likely benign
NM_016156.6(MTMR2):c.1593+9T>G single nucleotide variant not provided [RCV000932012] Chr11:95838085 [GRCh38]
Chr11:95571249 [GRCh37]
Chr11:11q21
likely benign
NM_016156.6(MTMR2):c.1776T>G (p.Pro592=) single nucleotide variant not provided [RCV000951032] Chr11:95835446 [GRCh38]
Chr11:95568610 [GRCh37]
Chr11:11q21
likely benign
NM_016156.5(MTMR2):c.1851G>C (p.Glu617Asp) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000818889] Chr11:95835371 [GRCh38]
Chr11:95568535 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.1593+297C>T single nucleotide variant not provided [RCV000827707] Chr11:95837797 [GRCh38]
Chr11:95570961 [GRCh37]
Chr11:11q21
benign
NM_016156.5(MTMR2):c.263-164A>G single nucleotide variant not provided [RCV000832723] Chr11:95862530 [GRCh38]
Chr11:95595694 [GRCh37]
Chr11:11q21
benign
NM_016156.5(MTMR2):c.197A>G (p.Glu66Gly) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000806455] Chr11:95865666 [GRCh38]
Chr11:95598830 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.469-147C>T single nucleotide variant not provided [RCV000833386] Chr11:95858779 [GRCh38]
Chr11:95591943 [GRCh37]
Chr11:11q21
likely benign
NM_016156.5(MTMR2):c.1101G>C (p.Lys367Asn) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000807577] Chr11:95847792 [GRCh38]
Chr11:95580956 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.654+77C>T single nucleotide variant not provided [RCV000832239] Chr11:95857475 [GRCh38]
Chr11:95590639 [GRCh37]
Chr11:11q21
likely benign
NM_016156.5(MTMR2):c.1480-220G>A single nucleotide variant not provided [RCV000832240] Chr11:95838427 [GRCh38]
Chr11:95571591 [GRCh37]
Chr11:11q21
likely benign
NM_016156.5(MTMR2):c.1121T>C (p.Ile374Thr) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000803363] Chr11:95847772 [GRCh38]
Chr11:95580936 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.1118A>G (p.Asn373Ser) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000805054] Chr11:95847775 [GRCh38]
Chr11:95580939 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.358-60G>C single nucleotide variant not provided [RCV000836293] Chr11:95862162 [GRCh38]
Chr11:95595326 [GRCh37]
Chr11:11q21
likely benign
NM_016156.5(MTMR2):c.262+136T>C single nucleotide variant not provided [RCV000843366] Chr11:95865465 [GRCh38]
Chr11:95598629 [GRCh37]
Chr11:11q21
benign
NM_016156.5(MTMR2):c.655-82T>C single nucleotide variant not provided [RCV000843368] Chr11:95850831 [GRCh38]
Chr11:95583995 [GRCh37]
Chr11:11q21
benign
NM_016156.5(MTMR2):c.1386+188A>G single nucleotide variant not provided [RCV000843370] Chr11:95844765 [GRCh38]
Chr11:95577929 [GRCh37]
Chr11:11q21
benign
NM_016156.5(MTMR2):c.1770+129C>T single nucleotide variant not provided [RCV000843371] Chr11:95836019 [GRCh38]
Chr11:95569183 [GRCh37]
Chr11:11q21
benign
NM_016156.5(MTMR2):c.1770+59T>G single nucleotide variant not provided [RCV000843372] Chr11:95836089 [GRCh38]
Chr11:95569253 [GRCh37]
Chr11:11q21
benign
NM_016156.5(MTMR2):c.1771-142G>T single nucleotide variant not provided [RCV000843373] Chr11:95835593 [GRCh38]
Chr11:95568757 [GRCh37]
Chr11:11q21
benign
NM_016156.5(MTMR2):c.626A>G (p.Tyr209Cys) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000818315] Chr11:95857580 [GRCh38]
Chr11:95590744 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.791G>A (p.Arg264Lys) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000821996] Chr11:95850613 [GRCh38]
Chr11:95583777 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.994-21A>G single nucleotide variant not provided [RCV000835224] Chr11:95847920 [GRCh38]
Chr11:95581084 [GRCh37]
Chr11:11q21
likely benign
NM_016156.5(MTMR2):c.94C>T (p.His32Tyr) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000803961] Chr11:95888248 [GRCh38]
Chr11:95621412 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.1411C>T (p.His471Tyr) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000799088] Chr11:95841685 [GRCh38]
Chr11:95574849 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.301G>A (p.Val101Ile) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000793186] Chr11:95862328 [GRCh38]
Chr11:95595492 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.1328G>A (p.Arg443Gln) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000819386] Chr11:95845011 [GRCh38]
Chr11:95578175 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.1593+1G>A single nucleotide variant Charcot-Marie-Tooth disease [RCV000790125] Chr11:95838093 [GRCh38]
Chr11:95571257 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.308G>A (p.Gly103Glu) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790128]|Charcot-Marie-Tooth disease type 4 [RCV001201504] Chr11:95862321 [GRCh38]
Chr11:95595485 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.841_844del (p.Ile281fs) deletion Charcot-Marie-Tooth disease [RCV000790131] Chr11:95849823..95849826 [GRCh38]
Chr11:95582987..95582990 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.1343T>C (p.Leu448Pro) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790133] Chr11:95844996 [GRCh38]
Chr11:95578160 [GRCh37]
Chr11:11q21
uncertain significance
NM_003912.1:c.1233G>A single nucleotide variant not specified [RCV000790242]   benign
NM_016156.6(MTMR2):c.1233G>T (p.Thr411=) single nucleotide variant not specified [RCV000790243] Chr11:95845106 [GRCh38]
Chr11:95578270 [GRCh37]
Chr11:11q21
benign
NM_003912.1:c.1504G>C single nucleotide variant not specified [RCV000790244]   uncertain significance
NM_016156.5(MTMR2):c.1363A>C (p.Ser455Arg) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000799840] Chr11:95844976 [GRCh38]
Chr11:95578140 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.454_458del (p.Glu152fs) deletion Charcot-Marie-Tooth disease type 4 [RCV000800548] Chr11:95862002..95862006 [GRCh38]
Chr11:95595166..95595170 [GRCh37]
Chr11:11q21
pathogenic
NM_016156.5(MTMR2):c.1345G>A (p.Val449Met) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000823343] Chr11:95844994 [GRCh38]
Chr11:95578158 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.262+198del deletion not provided [RCV000839299] Chr11:95865403 [GRCh38]
Chr11:95598567 [GRCh37]
Chr11:11q21
likely benign
NM_016156.6(MTMR2):c.1593+1G>A single nucleotide variant Charcot-Marie-Tooth disease [RCV000789670]|Charcot-Marie-Tooth disease, type 4B1 [RCV001332110] Chr11:95838093 [GRCh38]
Chr11:95571257 [GRCh37]
Chr11:11q21
pathogenic|uncertain significance
NM_016156.6(MTMR2):c.324del (p.Asn109fs) deletion Charcot-Marie-Tooth disease [RCV000790127] Chr11:95862305 [GRCh38]
Chr11:95595469 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.1454_1457del (p.Asp485fs) deletion Charcot-Marie-Tooth disease type 4 [RCV000801400] Chr11:95841639..95841642 [GRCh38]
Chr11:95574803..95574806 [GRCh37]
Chr11:11q21
pathogenic
NM_016156.5(MTMR2):c.1852A>C (p.Ile618Leu) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000821390] Chr11:95835370 [GRCh38]
Chr11:95568534 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.804+301T>G single nucleotide variant not provided [RCV000832912] Chr11:95850299 [GRCh38]
Chr11:95583463 [GRCh37]
Chr11:11q21
likely benign
NM_016156.5(MTMR2):c.1594-9T>G single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000805677] Chr11:95836333 [GRCh38]
Chr11:95569497 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.187-240dup duplication not provided [RCV000833536] Chr11:95865910..95865911 [GRCh38]
Chr11:95599074..95599075 [GRCh37]
Chr11:11q21
benign
NM_016156.6(MTMR2):c.655-285dup duplication not provided [RCV000827706] Chr11:95851031..95851032 [GRCh38]
Chr11:95584195..95584196 [GRCh37]
Chr11:11q21
benign
NM_016156.6(MTMR2):c.1534del (p.Leu512fs) deletion Charcot-Marie-Tooth disease [RCV000790129] Chr11:95838153 [GRCh38]
Chr11:95571317 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.847C>T (p.Arg283Trp) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790130] Chr11:95849820 [GRCh38]
Chr11:95582984 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.1749G>A (p.Trp583Ter) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790132] Chr11:95836169 [GRCh38]
Chr11:95569333 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.80+165G>A single nucleotide variant not provided [RCV000843346] Chr11:95923710 [GRCh38]
Chr11:95656874 [GRCh37]
Chr11:11q21
benign
NM_016156.5(MTMR2):c.327T>G (p.Asn109Lys) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000815517] Chr11:95862302 [GRCh38]
Chr11:95595466 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.829A>C (p.Ser277Arg) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000818904] Chr11:95849838 [GRCh38]
Chr11:95583002 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.358-2A>T single nucleotide variant Charcot-Marie-Tooth disease [RCV000790134] Chr11:95862104 [GRCh38]
Chr11:95595268 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.5(MTMR2):c.468+325T>C single nucleotide variant not provided [RCV000844600] Chr11:95861667 [GRCh38]
Chr11:95594831 [GRCh37]
Chr11:11q21
benign
NM_016156.6(MTMR2):c.1490dup (p.Phe498fs) duplication Charcot-Marie-Tooth disease, type 4B1 [RCV000844879] Chr11:95838196..95838197 [GRCh38]
Chr11:95571360..95571361 [GRCh37]
Chr11:11q21
pathogenic
NM_016156.5(MTMR2):c.1479+1G>A single nucleotide variant Charcot-Marie-Tooth disease, type 4B1 [RCV000844880] Chr11:95841616 [GRCh38]
Chr11:95574780 [GRCh37]
Chr11:11q21
pathogenic
NM_016156.6(MTMR2):c.1090C>T (p.Arg364Ter) single nucleotide variant Charcot-Marie-Tooth disease, type 4B1 [RCV000844881] Chr11:95847803 [GRCh38]
Chr11:95580967 [GRCh37]
Chr11:11q21
pathogenic
NM_016156.6(MTMR2):c.883C>T (p.Arg295Ter) single nucleotide variant Charcot-Marie-Tooth disease, type 4B1 [RCV000844882] Chr11:95849784 [GRCh38]
Chr11:95582948 [GRCh37]
Chr11:11q21
pathogenic
NM_016156.6(MTMR2):c.654+5G>A single nucleotide variant Charcot-Marie-Tooth disease [RCV001172720] Chr11:95857547 [GRCh38]
Chr11:95590711 [GRCh37]
Chr11:11q21
likely benign
NM_016156.6(MTMR2):c.1594-20C>A single nucleotide variant Charcot-Marie-Tooth disease [RCV001172725] Chr11:95836344 [GRCh38]
Chr11:95569508 [GRCh37]
Chr11:11q21
likely benign
NM_016156.6(MTMR2):c.684A>G (p.Thr228=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172727] Chr11:95850720 [GRCh38]
Chr11:95583884 [GRCh37]
Chr11:11q21
likely benign
NM_016156.6(MTMR2):c.874del (p.Ser292fs) deletion Charcot-Marie-Tooth disease type 4 [RCV001065553] Chr11:95849793 [GRCh38]
Chr11:95582957 [GRCh37]
Chr11:11q21
pathogenic
NM_016156.6(MTMR2):c.23_24AG[1] (p.Leu10fs) microsatellite Charcot-Marie-Tooth disease, type 4B1 [RCV000985066] Chr11:95923929..95923930 [GRCh38]
Chr11:95657093..95657094 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.6(MTMR2):c.916A>G (p.Ile306Val) single nucleotide variant not provided [RCV000994701] Chr11:95849751 [GRCh38]
Chr11:95582915 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.6(MTMR2):c.1637G>A (p.Ser546Asn) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001247074] Chr11:95836281 [GRCh38]
Chr11:95569445 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.6(MTMR2):c.432_434del (p.Gly145del) deletion Charcot-Marie-Tooth disease type 4 [RCV001229982] Chr11:95862026..95862028 [GRCh38]
Chr11:95595190..95595192 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.6(MTMR2):c.52C>T (p.Arg18Trp) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001231758] Chr11:95923903 [GRCh38]
Chr11:95657067 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.6(MTMR2):c.22G>A (p.Glu8Lys) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001222881] Chr11:95923933 [GRCh38]
Chr11:95657097 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.6(MTMR2):c.1851_1852del (p.Glu617fs) microsatellite Charcot-Marie-Tooth disease type 4 [RCV001231912] Chr11:95835370..95835371 [GRCh38]
Chr11:95568534..95568535 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.6(MTMR2):c.248A>C (p.Asn83Thr) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001220480] Chr11:95865615 [GRCh38]
Chr11:95598779 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.6(MTMR2):c.479A>C (p.Asn160Thr) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001224954] Chr11:95858622 [GRCh38]
Chr11:95591786 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.6(MTMR2):c.67G>T (p.Asp23Tyr) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001215014] Chr11:95923888 [GRCh38]
Chr11:95657052 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.6(MTMR2):c.508C>T (p.Arg170Trp) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001219331] Chr11:95858593 [GRCh38]
Chr11:95591757 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.6(MTMR2):c.-89C>G single nucleotide variant Charcot-Marie-Tooth disease, type 4B1 [RCV001110933] Chr11:95924043 [GRCh38]
Chr11:95657207 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.6(MTMR2):c.*1339T>G single nucleotide variant Charcot-Marie-Tooth disease, type 4B1 [RCV001114125] Chr11:95833951 [GRCh38]
Chr11:95567115 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.6(MTMR2):c.*1036C>T single nucleotide variant Charcot-Marie-Tooth disease, type 4B1 [RCV001110093] Chr11:95834254 [GRCh38]
Chr11:95567418 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.6(MTMR2):c.*810C>G single nucleotide variant Charcot-Marie-Tooth disease, type 4B1 [RCV001110095] Chr11:95834480 [GRCh38]
Chr11:95567644 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.6(MTMR2):c.1770+9_1770+20del deletion Charcot-Marie-Tooth disease type 4 [RCV000862268] Chr11:95836128..95836139 [GRCh38]
Chr11:95569292..95569303 [GRCh37]
Chr11:11q21
likely benign
NM_016156.6(MTMR2):c.20_21delinsTT (p.Cys7Phe) indel Charcot-Marie-Tooth disease type 4 [RCV001035590] Chr11:95923934..95923935 [GRCh38]
Chr11:95657098..95657099 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.6(MTMR2):c.718T>A (p.Tyr240Asn) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001035907] Chr11:95850686 [GRCh38]
Chr11:95583850 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.6(MTMR2):c.1220A>G (p.Glu407Gly) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001237178] Chr11:95845119 [GRCh38]
Chr11:95578283 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.6(MTMR2):c.358-39_358-16del deletion Charcot-Marie-Tooth disease [RCV001173022] Chr11:95862118..95862141 [GRCh38]
Chr11:95595282..95595305 [GRCh37]
Chr11:11q21
likely benign
NM_016156.6(MTMR2):c.393G>C (p.Val131=) single nucleotide variant not provided [RCV000935591] Chr11:95862067 [GRCh38]
Chr11:95595231 [GRCh37]
Chr11:11q21
likely benign
NM_016156.6(MTMR2):c.1398T>C (p.His466=) single nucleotide variant not provided [RCV000890811] Chr11:95841698 [GRCh38]
Chr11:95574862 [GRCh37]
Chr11:11q21
likely benign
NM_016156.6(MTMR2):c.357+10A>G single nucleotide variant not provided [RCV000912365] Chr11:95862262 [GRCh38]
Chr11:95595426 [GRCh37]
Chr11:11q21
likely benign
NM_016156.6(MTMR2):c.*1656T>G single nucleotide variant Charcot-Marie-Tooth disease, type 4B1 [RCV001112778] Chr11:95833634 [GRCh38]
Chr11:95566798 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.6(MTMR2):c.186+19A>T single nucleotide variant Charcot-Marie-Tooth disease [RCV001173029] Chr11:95888137 [GRCh38]
Chr11:95621301 [GRCh37]
Chr11:11q21
benign
NM_016156.6(MTMR2):c.*825G>A single nucleotide variant Charcot-Marie-Tooth disease, type 4B1 [RCV001110094] Chr11:95834465 [GRCh38]
Chr11:95567629 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.6(MTMR2):c.289T>A (p.Phe97Ile) single nucleotide variant Charcot-Marie-Tooth disease, type 4B1 [RCV001110166] Chr11:95862340 [GRCh38]
Chr11:95595504 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.6(MTMR2):c.162C>T (p.Ala54=) single nucleotide variant Charcot-Marie-Tooth disease, type 4B1 [RCV001110168] Chr11:95888180 [GRCh38]
Chr11:95621344 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.6(MTMR2):c.*2042G>C single nucleotide variant Charcot-Marie-Tooth disease, type 4B1 [RCV001110788] Chr11:95833248 [GRCh38]
Chr11:95566412 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.6(MTMR2):c.*335T>C single nucleotide variant Charcot-Marie-Tooth disease, type 4B1 [RCV001110857] Chr11:95834955 [GRCh38]
Chr11:95568119 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.6(MTMR2):c.*239A>T single nucleotide variant Charcot-Marie-Tooth disease, type 4B1 [RCV001110858] Chr11:95835051 [GRCh38]
Chr11:95568215 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.6(MTMR2):c.*212A>C single nucleotide variant Charcot-Marie-Tooth disease, type 4B1 [RCV001110859] Chr11:95835078 [GRCh38]
Chr11:95568242 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.6(MTMR2):c.-81G>A single nucleotide variant Charcot-Marie-Tooth disease, type 4B1 [RCV001110932] Chr11:95924035 [GRCh38]
Chr11:95657199 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.6(MTMR2):c.1915G>T (p.Val639Phe) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172714] Chr11:95835307 [GRCh38]
Chr11:95568471 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.6(MTMR2):c.655-19T>C single nucleotide variant Charcot-Marie-Tooth disease [RCV001173020] Chr11:95850768 [GRCh38]
Chr11:95583932 [GRCh37]
Chr11:11q21
likely benign
NM_016156.6(MTMR2):c.1387-19T>G single nucleotide variant Charcot-Marie-Tooth disease [RCV001173018] Chr11:95841728 [GRCh38]
Chr11:95574892 [GRCh37]
Chr11:11q21
likely benign
NM_016156.6(MTMR2):c.1362_1363del (p.Ser455fs) deletion Charcot-Marie-Tooth disease type 4 [RCV001214495] Chr11:95844976..95844977 [GRCh38]
Chr11:95578140..95578141 [GRCh37]
Chr11:11q21
pathogenic
NM_016156.6(MTMR2):c.1810C>T (p.Arg604Ter) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001203118] Chr11:95835412 [GRCh38]
Chr11:95568576 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.6(MTMR2):c.1239_1240del (p.Val414fs) deletion Charcot-Marie-Tooth disease type 4 [RCV001236746] Chr11:95845099..95845100 [GRCh38]
Chr11:95578263..95578264 [GRCh37]
Chr11:11q21
pathogenic
NM_016156.6(MTMR2):c.1862G>C (p.Arg621Pro) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001060742] Chr11:95835360 [GRCh38]
Chr11:95568524 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.6(MTMR2):c.*1271A>G single nucleotide variant Charcot-Marie-Tooth disease, type 4B1 [RCV001114126] Chr11:95834019 [GRCh38]
Chr11:95567183 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.6(MTMR2):c.-15T>C single nucleotide variant Charcot-Marie-Tooth disease [RCV001172707] Chr11:95923969 [GRCh38]
Chr11:95657133 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.6(MTMR2):c.841A>G (p.Ile281Val) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172711] Chr11:95849826 [GRCh38]
Chr11:95582990 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.6(MTMR2):c.-16C>T single nucleotide variant Charcot-Marie-Tooth disease [RCV001172719] Chr11:95923970 [GRCh38]
Chr11:95657134 [GRCh37]
Chr11:11q21
likely benign
NM_016156.6(MTMR2):c.430C>T (p.Arg144Ter) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001214772] Chr11:95862030 [GRCh38]
Chr11:95595194 [GRCh37]
Chr11:11q21
pathogenic
NM_016156.6(MTMR2):c.1723C>G (p.Leu575Val) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001204128] Chr11:95836195 [GRCh38]
Chr11:95569359 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.6(MTMR2):c.1867A>G (p.Thr623Ala) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001235524] Chr11:95835355 [GRCh38]
Chr11:95568519 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.6(MTMR2):c.*17G>A single nucleotide variant Charcot-Marie-Tooth disease [RCV001172708] Chr11:95835273 [GRCh38]
Chr11:95568437 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.6(MTMR2):c.139T>C (p.Ser47Pro) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172716] Chr11:95888203 [GRCh38]
Chr11:95621367 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.6(MTMR2):c.358-42_358-18del deletion Charcot-Marie-Tooth disease [RCV001173023] Chr11:95862120..95862144 [GRCh38]
Chr11:95595284..95595308 [GRCh37]
Chr11:11q21
likely benign
NM_016156.6(MTMR2):c.*1249G>A single nucleotide variant Charcot-Marie-Tooth disease, type 4B1 [RCV001114127] Chr11:95834041 [GRCh38]
Chr11:95567205 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.6(MTMR2):c.1637G>C (p.Ser546Thr) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001201942] Chr11:95836281 [GRCh38]
Chr11:95569445 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.6(MTMR2):c.282A>G (p.Ile94Met) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001055540] Chr11:95862347 [GRCh38]
Chr11:95595511 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.6(MTMR2):c.1591G>T (p.Glu531Ter) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001203117] Chr11:95838096 [GRCh38]
Chr11:95571260 [GRCh37]
Chr11:11q21
pathogenic
NM_016156.6(MTMR2):c.11G>C (p.Ser4Thr) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001069613] Chr11:95923944 [GRCh38]
Chr11:95657108 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.6(MTMR2):c.77C>T (p.Ser26Phe) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001063119] Chr11:95923878 [GRCh38]
Chr11:95657042 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.6(MTMR2):c.463T>C (p.Cys155Arg) single nucleotide variant Charcot-Marie-Tooth disease, type 4B1 [RCV001255959] Chr11:95861997 [GRCh38]
Chr11:95595161 [GRCh37]
Chr11:11q21
likely pathogenic
NM_016156.6(MTMR2):c.1736_1745delinsCC (p.Tyr579fs) indel Charcot-Marie-Tooth disease, type 4B1 [RCV001283803] Chr11:95836173..95836182 [GRCh38]
Chr11:95569337..95569346 [GRCh37]
Chr11:11q21
pathogenic
NM_016156.6(MTMR2):c.269A>T (p.Asp90Val) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001351968] Chr11:95862360 [GRCh38]
Chr11:95595524 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.6(MTMR2):c.1386+8A>C single nucleotide variant not provided [RCV001288250] Chr11:95844945 [GRCh38]
Chr11:95578109 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.6(MTMR2):c.1774C>T (p.Pro592Ser) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001297812] Chr11:95835448 [GRCh38]
Chr11:95568612 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.6(MTMR2):c.523A>G (p.Ile175Val) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001345897] Chr11:95858578 [GRCh38]
Chr11:95591742 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.6(MTMR2):c.1091G>A (p.Arg364Gln) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001347196] Chr11:95847802 [GRCh38]
Chr11:95580966 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.6(MTMR2):c.629A>G (p.Asp210Gly) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001322181] Chr11:95857577 [GRCh38]
Chr11:95590741 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.6(MTMR2):c.759A>C (p.Glu253Asp) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001313404] Chr11:95850645 [GRCh38]
Chr11:95583809 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.6(MTMR2):c.213A>G (p.Ala71=) single nucleotide variant Charcot-Marie-Tooth disease, type 4B1 [RCV001286555] Chr11:95865650 [GRCh38]
Chr11:95598814 [GRCh37]
Chr11:11q21
likely benign
NM_016156.6(MTMR2):c.1011T>G (p.Tyr337Ter) single nucleotide variant not provided [RCV001269759] Chr11:95847882 [GRCh38]
Chr11:95581046 [GRCh37]
Chr11:11q21
likely pathogenic
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3
pathogenic
NM_016156.6(MTMR2):c.230C>T (p.Pro77Leu) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001338638] Chr11:95865633 [GRCh38]
Chr11:95598797 [GRCh37]
Chr11:11q21
uncertain significance
NM_016156.6(MTMR2):c.797G>A (p.Arg266His) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001327701] Chr11:95850607 [GRCh38]
Chr11:95583771 [GRCh37]
Chr11:11q21
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7450 AgrOrtholog
COSMIC MTMR2 COSMIC
Ensembl Genes ENSG00000087053 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000343737 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000345752 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000376915 UniProtKB/Swiss-Prot
  ENSP00000386882 UniProtKB/Swiss-Prot
  ENSP00000396020 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSP00000501567 UniProtKB/Swiss-Prot
  ENSP00000501601 UniProtKB/Swiss-Prot
  ENSP00000501632 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000501635 UniProtKB/TrEMBL
  ENSP00000501640 UniProtKB/TrEMBL
  ENSP00000501675 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000501688 UniProtKB/Swiss-Prot
  ENSP00000501702 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000501751 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000501753 UniProtKB/Swiss-Prot
  ENSP00000501781 UniProtKB/Swiss-Prot
  ENSP00000501850 UniProtKB/Swiss-Prot
  ENSP00000501866 UniProtKB/TrEMBL
  ENSP00000501867 UniProtKB/Swiss-Prot
  ENSP00000501894 UniProtKB/Swiss-Prot
  ENSP00000501926 UniProtKB/Swiss-Prot
  ENSP00000501942 UniProtKB/TrEMBL
  ENSP00000501963 UniProtKB/Swiss-Prot
  ENSP00000501989 UniProtKB/Swiss-Prot
  ENSP00000502032 UniProtKB/Swiss-Prot
  ENSP00000502057 UniProtKB/TrEMBL
  ENSP00000502076 UniProtKB/TrEMBL
  ENSP00000502168 UniProtKB/TrEMBL
  ENSP00000502204 UniProtKB/Swiss-Prot
  ENSP00000502337 UniProtKB/TrEMBL
  ENSP00000502386 UniProtKB/TrEMBL
  ENSP00000502388 UniProtKB/TrEMBL
  ENSP00000502405 UniProtKB/TrEMBL
  ENSP00000502425 UniProtKB/TrEMBL
  ENSP00000502433 UniProtKB/Swiss-Prot
  ENSP00000502444 UniProtKB/TrEMBL
  ENSP00000502487 UniProtKB/TrEMBL
  ENSP00000502505 UniProtKB/Swiss-Prot
  ENSP00000502515 UniProtKB/Swiss-Prot
  ENSP00000502567 UniProtKB/Swiss-Prot
  ENSP00000502575 UniProtKB/Swiss-Prot
  ENSP00000502583 UniProtKB/TrEMBL
  ENSP00000502622 UniProtKB/TrEMBL
  ENSP00000502694 UniProtKB/Swiss-Prot
  ENSP00000502722 UniProtKB/TrEMBL
  ENSP00000502736 UniProtKB/Swiss-Prot
  ENSP00000502824 UniProtKB/TrEMBL
  ENSP00000502829 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000346299 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000352297 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000393223 UniProtKB/Swiss-Prot
  ENST00000409459 UniProtKB/Swiss-Prot
  ENST00000444541 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENST00000470293 UniProtKB/Swiss-Prot
  ENST00000481642 UniProtKB/Swiss-Prot
  ENST00000484818 UniProtKB/Swiss-Prot
  ENST00000495134 UniProtKB/Swiss-Prot
  ENST00000497683 UniProtKB/Swiss-Prot
  ENST00000674528 UniProtKB/Swiss-Prot
  ENST00000674610 UniProtKB/Swiss-Prot
  ENST00000674924 UniProtKB/Swiss-Prot
  ENST00000674950 UniProtKB/TrEMBL
  ENST00000674968 UniProtKB/Swiss-Prot
  ENST00000674974 UniProtKB/TrEMBL
  ENST00000674989 UniProtKB/Swiss-Prot
  ENST00000675022 UniProtKB/TrEMBL
  ENST00000675030 UniProtKB/TrEMBL
  ENST00000675174 UniProtKB/Swiss-Prot
  ENST00000675196 UniProtKB/Swiss-Prot
  ENST00000675288 UniProtKB/TrEMBL
  ENST00000675320 UniProtKB/TrEMBL
  ENST00000675362 UniProtKB/Swiss-Prot
  ENST00000675438 UniProtKB/TrEMBL
  ENST00000675454 UniProtKB/Swiss-Prot
  ENST00000675477 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000675489 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000675636 UniProtKB/Swiss-Prot
  ENST00000675652 UniProtKB/Swiss-Prot
  ENST00000675660 UniProtKB/TrEMBL
  ENST00000675807 UniProtKB/TrEMBL
  ENST00000675848 UniProtKB/TrEMBL
  ENST00000675896 UniProtKB/TrEMBL
  ENST00000675910 UniProtKB/TrEMBL
  ENST00000675922 UniProtKB/TrEMBL
  ENST00000675933 UniProtKB/Swiss-Prot
  ENST00000675981 UniProtKB/Swiss-Prot
  ENST00000676027 UniProtKB/TrEMBL
  ENST00000676146 UniProtKB/TrEMBL
  ENST00000676166 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000676177 UniProtKB/TrEMBL
  ENST00000676261 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000676268 UniProtKB/TrEMBL
  ENST00000676272 UniProtKB/Swiss-Prot
  ENST00000676378 UniProtKB/Swiss-Prot
  ENST00000676388 UniProtKB/TrEMBL
  ENST00000676440 UniProtKB/Swiss-Prot
Gene3D-CATH 2.30.29.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000087053 GTEx
HGNC ID HGNC:7450 ENTREZGENE
Human Proteome Map MTMR2 Human Proteome Map
InterPro GRAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Myotubularin-like_Pase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Myotubularin_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot-tyrosine_phosphatase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_Pase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_Pase_cat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TYR_PHOSPHATASE_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8898 UniProtKB/Swiss-Prot
NCBI Gene 8898 ENTREZGENE
OMIM 601382 OMIM
  603557 OMIM
PANTHER PTHR10807 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam GRAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Myotub-related UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31253 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 A0A024R3B7 ENTREZGENE, UniProtKB/TrEMBL
  A0A6Q8PF46_HUMAN UniProtKB/TrEMBL
  A0A6Q8PFL3_HUMAN UniProtKB/TrEMBL
  A0A6Q8PG25_HUMAN UniProtKB/TrEMBL
  A0A6Q8PGS5_HUMAN UniProtKB/TrEMBL
  A0A6Q8PGT1_HUMAN UniProtKB/TrEMBL
  A0A6Q8PGV9_HUMAN UniProtKB/TrEMBL
  A0A6Q8PHC4_HUMAN UniProtKB/TrEMBL
  A0A6Q8PHL9_HUMAN UniProtKB/TrEMBL
  A0A6Q8PHS7_HUMAN UniProtKB/TrEMBL
  C9JEX3_HUMAN UniProtKB/TrEMBL
  MTMR2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A6NN98 UniProtKB/Swiss-Prot
  Q9UPS9 UniProtKB/Swiss-Prot