LRSAM1 (leucine rich repeat and sterile alpha motif containing 1) - Rat Genome Database

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Gene: LRSAM1 (leucine rich repeat and sterile alpha motif containing 1) Homo sapiens
Analyze
Symbol: LRSAM1
Name: leucine rich repeat and sterile alpha motif containing 1
RGD ID: 1343012
HGNC Page HGNC
Description: Exhibits ubiquitin protein ligase activity. Involved in several processes, including positive regulation of macroautophagy; protein ubiquitination; and ubiquitin-dependent endocytosis. Localizes to cytosol and membrane. Implicated in Charcot-Marie-Tooth disease axonal type 2P.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CMT2P; E3 ubiquitin-protein ligase LRSAM1; FLJ31641; leucine-rich repeat and sterile alpha motif-containing protein 1; RIFLE; RING finger leucine repeat rich; RING-type E3 ubiquitin transferase LRSAM1; TAL; Tsg101-associated ligase
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 Ensembl9127,451,489 - 127,503,499 (+)EnsemblGRCh38hg38GRCh38
GRCh389127,451,486 - 127,503,501 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh379130,213,765 - 130,265,780 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 369129,253,613 - 129,305,599 (+)NCBINCBI36hg18NCBI36
Build 349127,293,570 - 127,345,332NCBI
Celera9100,864,640 - 100,916,667 (+)NCBI
Cytogenetic Map9q33.3-q34.11NCBI
HuRef999,829,749 - 99,881,715 (+)NCBIHuRef
CHM1_19130,365,060 - 130,417,083 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IDA)
cytosol  (IDA)
membrane  (IDA)

Molecular Function

References

Additional References at PubMed
PMID:7757816   PMID:12975309   PMID:14635195   PMID:14702039   PMID:15164053   PMID:15256501   PMID:15489334   PMID:16169070   PMID:16189514   PMID:16344560   PMID:16713569   PMID:16808324  
PMID:18029348   PMID:18077552   PMID:19542561   PMID:19549727   PMID:19690564   PMID:20301462   PMID:20301532   PMID:20616063   PMID:20865121   PMID:21044950   PMID:21078624   PMID:21873635  
PMID:22012984   PMID:22493164   PMID:22781092   PMID:22863883   PMID:22939624   PMID:22939629   PMID:23105109   PMID:23245317   PMID:23245322   PMID:24894446   PMID:25260751   PMID:25380047  
PMID:25416956   PMID:25484098   PMID:25590999   PMID:26186194   PMID:26811492   PMID:27615052   PMID:27686364   PMID:28189685   PMID:28335037   PMID:28514442   PMID:28786561   PMID:29253842  
PMID:29341362   PMID:29467282   PMID:30639242   PMID:30826859   PMID:30996334   PMID:31852984   PMID:31982566   PMID:32296183   PMID:32814053  


Genomics

Comparative Map Data
LRSAM1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl9127,451,489 - 127,503,499 (+)EnsemblGRCh38hg38GRCh38
GRCh389127,451,486 - 127,503,501 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh379130,213,765 - 130,265,780 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 369129,253,613 - 129,305,599 (+)NCBINCBI36hg18NCBI36
Build 349127,293,570 - 127,345,332NCBI
Celera9100,864,640 - 100,916,667 (+)NCBI
Cytogenetic Map9q33.3-q34.11NCBI
HuRef999,829,749 - 99,881,715 (+)NCBIHuRef
CHM1_19130,365,060 - 130,417,083 (+)NCBICHM1_1
Lrsam1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39232,815,227 - 32,851,666 (-)NCBIGRCm39mm39
GRCm39 Ensembl232,815,228 - 32,851,626 (-)Ensembl
GRCm38232,925,215 - 32,961,654 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl232,925,216 - 32,961,614 (-)EnsemblGRCm38mm10GRCm38
MGSCv37232,780,740 - 32,816,771 (-)NCBIGRCm37mm9NCBIm37
MGSCv36232,747,229 - 32,783,260 (-)NCBImm8
Celera232,632,202 - 32,668,233 (-)NCBICelera
Cytogenetic Map2BNCBI
Lrsam1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2316,223,367 - 16,264,261 (-)NCBI
Rnor_6.0 Ensembl311,972,813 - 12,007,570 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0311,970,401 - 12,009,463 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0317,306,364 - 17,346,096 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4311,911,191 - 11,951,806 (-)NCBIRGSC3.4rn4RGSC3.4
Celera310,962,858 - 11,003,030 (-)NCBICelera
Cytogenetic Map3p11NCBI
Lrsam1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554191,121,127 - 1,154,356 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554191,121,127 - 1,154,356 (-)NCBIChiLan1.0ChiLan1.0
LRSAM1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.19127,245,508 - 127,297,645 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl9127,245,508 - 127,297,645 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0998,571,796 - 98,623,581 (+)NCBIMhudiblu_PPA_v0panPan3
LRSAM1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1955,855,576 - 55,894,915 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl955,856,091 - 55,894,488 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha955,048,186 - 55,087,500 (-)NCBI
ROS_Cfam_1.0956,777,265 - 56,816,609 (-)NCBI
UMICH_Zoey_3.1955,536,982 - 55,576,339 (-)NCBI
UNSW_CanFamBas_1.0955,852,016 - 55,891,375 (-)NCBI
UU_Cfam_GSD_1.0955,942,727 - 55,981,922 (-)NCBI
Lrsam1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947195,412,290 - 195,449,426 (+)NCBI
SpeTri2.0NW_00493648715,181,009 - 15,217,952 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LRSAM1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1267,964,928 - 268,008,825 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11267,964,875 - 268,008,833 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21301,875,425 - 301,919,524 (+)NCBISscrofa10.2Sscrofa10.2susScr3
LRSAM1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11210,623,118 - 10,677,002 (-)NCBI
ChlSab1.1 Ensembl1210,622,893 - 10,676,553 (-)Ensembl
Vero_WHO_p1.0NW_0236660795,538,633 - 5,593,996 (+)NCBI
Lrsam1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247607,997,803 - 8,044,758 (-)NCBI

Position Markers
D9S904  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379130,237,270 - 130,237,464UniSTSGRCh37
Build 369129,277,091 - 129,277,285RGDNCBI36
Celera9100,888,155 - 100,888,349RGD
Cytogenetic Map9q33.3UniSTS
HuRef999,853,210 - 99,853,404UniSTS
Marshfield Genetic Map9136.47UniSTS
Marshfield Genetic Map9136.47RGD
deCODE Assembly Map9135.16UniSTS
A008L27  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379130,214,082 - 130,214,184UniSTSGRCh37
Build 369129,253,903 - 129,254,005RGDNCBI36
Celera9100,864,957 - 100,865,059RGD
Cytogenetic Map9q34UniSTS
Cytogenetic Map9q33.3UniSTS
HuRef999,830,066 - 99,830,168UniSTS
GeneMap99-GB4 RH Map9385.71UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3960
Count of miRNA genes:842
Interacting mature miRNAs:1015
Transcripts:ENST00000300417, ENST00000323301, ENST00000373322, ENST00000373324, ENST00000472068, ENST00000476755, ENST00000483302, ENST00000485704, ENST00000486587, ENST00000498513
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2111 2235 1366 255 1510 146 3639 1455 2868 305 1331 1545 126 1 879 2203 5 2
Low 328 756 360 369 440 319 718 742 866 114 129 68 49 325 585 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_032008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001005373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001005374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001190723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001384142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001384143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001384144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_138361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_168891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_168892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF086398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI364608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK226106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL445222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA165729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA393757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA726792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB165274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB309230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z44095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000300417   ⟹   ENSP00000300417
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,451,486 - 127,503,501 (+)Ensembl
RefSeq Acc Id: ENST00000323301   ⟹   ENSP00000322937
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,451,513 - 127,503,499 (+)Ensembl
RefSeq Acc Id: ENST00000373322   ⟹   ENSP00000362419
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,452,255 - 127,503,499 (+)Ensembl
RefSeq Acc Id: ENST00000373324   ⟹   ENSP00000362421
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,451,505 - 127,503,499 (+)Ensembl
RefSeq Acc Id: ENST00000472068
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,479,949 - 127,501,054 (+)Ensembl
RefSeq Acc Id: ENST00000483302
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,479,386 - 127,503,499 (+)Ensembl
RefSeq Acc Id: ENST00000485704
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,451,931 - 127,457,413 (+)Ensembl
RefSeq Acc Id: ENST00000486587
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,451,533 - 127,454,012 (+)Ensembl
RefSeq Acc Id: ENST00000498513
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,473,929 - 127,487,560 (+)Ensembl
RefSeq Acc Id: ENST00000674511   ⟹   ENSP00000502393
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,460,972 - 127,503,486 (+)Ensembl
RefSeq Acc Id: ENST00000674516   ⟹   ENSP00000502441
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,451,555 - 127,503,459 (+)Ensembl
RefSeq Acc Id: ENST00000674621   ⟹   ENSP00000502443
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,460,946 - 127,503,444 (+)Ensembl
RefSeq Acc Id: ENST00000674771   ⟹   ENSP00000502627
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,451,505 - 127,503,499 (+)Ensembl
RefSeq Acc Id: ENST00000674784   ⟹   ENSP00000501837
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,451,510 - 127,503,485 (+)Ensembl
RefSeq Acc Id: ENST00000674970   ⟹   ENSP00000502493
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,451,683 - 127,503,486 (+)Ensembl
RefSeq Acc Id: ENST00000675012   ⟹   ENSP00000501709
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,460,972 - 127,503,486 (+)Ensembl
RefSeq Acc Id: ENST00000675141   ⟹   ENSP00000502420
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,451,515 - 127,503,485 (+)Ensembl
RefSeq Acc Id: ENST00000675198   ⟹   ENSP00000502621
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,460,950 - 127,503,483 (+)Ensembl
RefSeq Acc Id: ENST00000675213   ⟹   ENSP00000502218
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,451,931 - 127,503,499 (+)Ensembl
RefSeq Acc Id: ENST00000675224   ⟹   ENSP00000501869
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,451,489 - 127,503,459 (+)Ensembl
RefSeq Acc Id: ENST00000675253   ⟹   ENSP00000502557
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,451,683 - 127,503,485 (+)Ensembl
RefSeq Acc Id: ENST00000675364
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,461,113 - 127,468,836 (+)Ensembl
RefSeq Acc Id: ENST00000675445   ⟹   ENSP00000502253
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,454,383 - 127,503,486 (+)Ensembl
RefSeq Acc Id: ENST00000675448   ⟹   ENSP00000502167
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,451,511 - 127,503,486 (+)Ensembl
RefSeq Acc Id: ENST00000675521   ⟹   ENSP00000502258
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,461,000 - 127,503,483 (+)Ensembl
RefSeq Acc Id: ENST00000675558
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,454,354 - 127,456,039 (+)Ensembl
RefSeq Acc Id: ENST00000675572   ⟹   ENSP00000501598
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,451,505 - 127,503,499 (+)Ensembl
RefSeq Acc Id: ENST00000675641   ⟹   ENSP00000501845
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,451,505 - 127,503,499 (+)Ensembl
RefSeq Acc Id: ENST00000675657   ⟹   ENSP00000502002
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,451,683 - 127,503,483 (+)Ensembl
RefSeq Acc Id: ENST00000675662   ⟹   ENSP00000502599
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,460,959 - 127,503,483 (+)Ensembl
RefSeq Acc Id: ENST00000675789   ⟹   ENSP00000501954
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,451,510 - 127,503,485 (+)Ensembl
RefSeq Acc Id: ENST00000675883   ⟹   ENSP00000501592
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,451,622 - 127,503,493 (+)Ensembl
RefSeq Acc Id: ENST00000675945   ⟹   ENSP00000501835
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,451,683 - 127,503,464 (+)Ensembl
RefSeq Acc Id: ENST00000676014   ⟹   ENSP00000502058
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,451,626 - 127,503,486 (+)Ensembl
RefSeq Acc Id: ENST00000676035   ⟹   ENSP00000501763
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,461,091 - 127,503,485 (+)Ensembl
RefSeq Acc Id: ENST00000676106   ⟹   ENSP00000502473
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,461,047 - 127,503,486 (+)Ensembl
RefSeq Acc Id: ENST00000676137   ⟹   ENSP00000501847
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,460,961 - 127,503,483 (+)Ensembl
RefSeq Acc Id: ENST00000676170   ⟹   ENSP00000502177
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,451,510 - 127,503,483 (+)Ensembl
RefSeq Acc Id: ENST00000676318   ⟹   ENSP00000502300
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,451,683 - 127,503,483 (+)Ensembl
RefSeq Acc Id: ENST00000676336   ⟹   ENSP00000502686
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,451,510 - 127,503,483 (+)Ensembl
RefSeq Acc Id: ENST00000676349   ⟹   ENSP00000502155
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,451,510 - 127,503,483 (+)Ensembl
RefSeq Acc Id: ENST00000676399   ⟹   ENSP00000502102
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,460,954 - 127,503,487 (+)Ensembl
RefSeq Acc Id: ENST00000676409   ⟹   ENSP00000502053
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,460,973 - 127,503,485 (+)Ensembl
RefSeq Acc Id: NM_001005373   ⟹   NP_001005373
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,451,510 - 127,503,499 (+)NCBI
GRCh379130,213,765 - 130,265,780 (+)RGD
GRCh379130,213,765 - 130,265,780 (+)NCBI
Build 369129,253,613 - 129,305,599 (+)NCBI Archive
Celera9100,864,640 - 100,916,667 (+)RGD
HuRef999,829,749 - 99,881,715 (+)RGD
CHM1_19130,365,060 - 130,417,083 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001005374   ⟹   NP_001005374
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,452,255 - 127,503,499 (+)NCBI
GRCh379130,213,765 - 130,265,780 (+)RGD
Build 369129,254,355 - 129,305,599 (+)NCBI Archive
Celera9100,864,640 - 100,916,667 (+)RGD
HuRef999,829,749 - 99,881,715 (+)RGD
CHM1_19130,365,829 - 130,417,083 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001190723   ⟹   NP_001177652
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,451,510 - 127,503,499 (+)NCBI
GRCh379130,213,765 - 130,265,780 (+)RGD
Celera9100,864,640 - 100,916,667 (+)RGD
HuRef999,829,749 - 99,881,715 (+)RGD
CHM1_19130,365,060 - 130,417,083 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001384142   ⟹   NP_001371071
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,451,510 - 127,503,499 (+)NCBI
RefSeq Acc Id: NM_001384143   ⟹   NP_001371072
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,451,510 - 127,503,499 (+)NCBI
RefSeq Acc Id: NM_001384144   ⟹   NP_001371073
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,451,510 - 127,503,499 (+)NCBI
RefSeq Acc Id: NM_138361   ⟹   NP_612370
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,451,486 - 127,503,501 (+)NCBI
GRCh379130,213,765 - 130,265,780 (+)RGD
Build 369129,253,838 - 129,305,599 (+)NCBI Archive
Celera9100,864,640 - 100,916,667 (+)RGD
HuRef999,829,749 - 99,881,715 (+)RGD
CHM1_19130,365,060 - 130,417,083 (+)NCBI
Sequence:
RefSeq Acc Id: NR_168891
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,451,510 - 127,503,499 (+)NCBI
RefSeq Acc Id: NR_168892
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,451,510 - 127,503,499 (+)NCBI
Reference Sequences
RefSeq Acc Id: NP_001005373   ⟸   NM_001005373
- Peptide Label: isoform 1
- UniProtKB: Q6UWE0 (UniProtKB/Swiss-Prot),   A0A024R870 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001177652   ⟸   NM_001190723
- Peptide Label: isoform 2
- UniProtKB: Q6UWE0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_612370   ⟸   NM_138361
- Peptide Label: isoform 1
- UniProtKB: Q6UWE0 (UniProtKB/Swiss-Prot),   A0A024R870 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001005374   ⟸   NM_001005374
- Peptide Label: isoform 1
- UniProtKB: Q6UWE0 (UniProtKB/Swiss-Prot),   A0A024R870 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000362419   ⟸   ENST00000373322
RefSeq Acc Id: ENSP00000362421   ⟸   ENST00000373324
RefSeq Acc Id: ENSP00000322937   ⟸   ENST00000323301
RefSeq Acc Id: ENSP00000300417   ⟸   ENST00000300417
RefSeq Acc Id: NP_001371071   ⟸   NM_001384142
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001371072   ⟸   NM_001384143
- Peptide Label: isoform 3
RefSeq Acc Id: NP_001371073   ⟸   NM_001384144
- Peptide Label: isoform 4
RefSeq Acc Id: ENSP00000502393   ⟸   ENST00000674511
RefSeq Acc Id: ENSP00000502441   ⟸   ENST00000674516
RefSeq Acc Id: ENSP00000502493   ⟸   ENST00000674970
RefSeq Acc Id: ENSP00000501837   ⟸   ENST00000674784
RefSeq Acc Id: ENSP00000502627   ⟸   ENST00000674771
RefSeq Acc Id: ENSP00000502443   ⟸   ENST00000674621
RefSeq Acc Id: ENSP00000501954   ⟸   ENST00000675789
RefSeq Acc Id: ENSP00000502599   ⟸   ENST00000675662
RefSeq Acc Id: ENSP00000502002   ⟸   ENST00000675657
RefSeq Acc Id: ENSP00000501845   ⟸   ENST00000675641
RefSeq Acc Id: ENSP00000501598   ⟸   ENST00000675572
RefSeq Acc Id: ENSP00000502258   ⟸   ENST00000675521
RefSeq Acc Id: ENSP00000502253   ⟸   ENST00000675445
RefSeq Acc Id: ENSP00000502167   ⟸   ENST00000675448
RefSeq Acc Id: ENSP00000501835   ⟸   ENST00000675945
RefSeq Acc Id: ENSP00000501592   ⟸   ENST00000675883
RefSeq Acc Id: ENSP00000502218   ⟸   ENST00000675213
RefSeq Acc Id: ENSP00000501869   ⟸   ENST00000675224
RefSeq Acc Id: ENSP00000502557   ⟸   ENST00000675253
RefSeq Acc Id: ENSP00000502621   ⟸   ENST00000675198
RefSeq Acc Id: ENSP00000502420   ⟸   ENST00000675141
RefSeq Acc Id: ENSP00000501709   ⟸   ENST00000675012
RefSeq Acc Id: ENSP00000502177   ⟸   ENST00000676170
RefSeq Acc Id: ENSP00000501847   ⟸   ENST00000676137
RefSeq Acc Id: ENSP00000502473   ⟸   ENST00000676106
RefSeq Acc Id: ENSP00000501763   ⟸   ENST00000676035
RefSeq Acc Id: ENSP00000502058   ⟸   ENST00000676014
RefSeq Acc Id: ENSP00000502053   ⟸   ENST00000676409
RefSeq Acc Id: ENSP00000502102   ⟸   ENST00000676399
RefSeq Acc Id: ENSP00000502300   ⟸   ENST00000676318
RefSeq Acc Id: ENSP00000502155   ⟸   ENST00000676349
RefSeq Acc Id: ENSP00000502686   ⟸   ENST00000676336
Protein Domains
RING-type   SAM

Promoters
RGD ID:7216177
Promoter ID:EPDNEW_H13835
Type:initiation region
Name:LRSAM1_1
Description:leucine rich repeat and sterile alpha motif containing 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13836  EPDNEW_H13837  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,451,510 - 127,451,570EPDNEW
RGD ID:7216179
Promoter ID:EPDNEW_H13836
Type:single initiation site
Name:LRSAM1_2
Description:leucine rich repeat and sterile alpha motif containing 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13835  EPDNEW_H13837  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,452,354 - 127,452,414EPDNEW
RGD ID:7216181
Promoter ID:EPDNEW_H13837
Type:multiple initiation site
Name:LRSAM1_3
Description:leucine rich repeat and sterile alpha motif containing 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13835  EPDNEW_H13836  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,453,571 - 127,453,631EPDNEW
RGD ID:6807858
Promoter ID:HG_KWN:65014
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000300417,   NM_001005374,   OTTHUMT00000054163,   OTTHUMT00000054164,   OTTHUMT00000054167,   OTTHUMT00000054170,   OTTHUMT00000054189,   OTTHUMT00000054190,   OTTHUMT00000054191,   OTTHUMT00000054192,   UC004BQZ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 369129,251,736 - 129,254,442 (+)MPROMDB
RGD ID:6807857
Promoter ID:HG_KWN:65016
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000054171
Position:
Human AssemblyChrPosition (strand)Source
Build 369129,275,746 - 129,276,246 (+)MPROMDB
RGD ID:6807856
Promoter ID:HG_KWN:65019
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000054161,   OTTHUMT00000054169
Position:
Human AssemblyChrPosition (strand)Source
Build 369129,294,146 - 129,294,646 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
Single allele deletion Early infantile epileptic encephalopathy 4 [RCV000735211] Chr9:130248090..130388197 [GRCh37]
Chr9:9q33.3-34.11
pathogenic
NM_138361.5(LRSAM1):c.593C>A (p.Ala198Glu) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000685134]|not provided [RCV000522714] Chr9:127467804 [GRCh38]
Chr9:130230083 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.1422+6C>T single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000525453] Chr9:127489524 [GRCh38]
Chr9:130251803 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.2121_2122dup (p.Leu708fs) duplication Charcot-Marie-Tooth disease [RCV000192256]|Charcot-Marie-Tooth disease type 2P [RCV000023845] Chr9:127502846..127502847 [GRCh38]
Chr9:130265125..130265126 [GRCh37]
Chr9:9q34.11
pathogenic
NM_138361.5(LRSAM1):c.2047-1G>A single nucleotide variant Charcot-Marie-Tooth disease [RCV000789359]|Charcot-Marie-Tooth disease type 2P [RCV000034318] Chr9:127502773 [GRCh38]
Chr9:130265052 [GRCh37]
Chr9:9q34.11
pathogenic|uncertain significance
NM_138361.5(LRSAM1):c.2111G>A (p.Arg704His) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000546059] Chr9:127502838 [GRCh38]
Chr9:130265117 [GRCh37]
Chr9:9q34.11
likely benign
NM_138361.5(LRSAM1):c.913C>T (p.Arg305Trp) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000526182] Chr9:127479848 [GRCh38]
Chr9:130242127 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.414G>A (p.Lys138=) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001079039]|not provided [RCV000521464] Chr9:127462259 [GRCh38]
Chr9:130224538 [GRCh37]
Chr9:9q33.3
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138361.5(LRSAM1):c.1914G>A (p.Glu638=) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000023844] Chr9:127501011 [GRCh38]
Chr9:130263290 [GRCh37]
Chr9:9q34.11
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q33.3-34.11(chr9:126081595-127781685)x1 copy number loss See cases [RCV000050860] Chr9:126081595..127781685 [GRCh38]
Chr9:128843874..130543964 [GRCh37]
Chr9:127883695..129583785 [NCBI36]
Chr9:9q33.3-34.11
pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3 copy number gain See cases [RCV000051009] Chr9:121112395..138075224 [GRCh38]
Chr9:123874673..140969676 [GRCh37]
Chr9:122914494..140089497 [NCBI36]
Chr9:9q33.2-34.3
pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3 copy number gain See cases [RCV000051040] Chr9:122792658..138124532 [GRCh38]
Chr9:125554937..141018984 [GRCh37]
Chr9:124594758..140138805 [NCBI36]
Chr9:9q33.2-34.3
pathogenic
GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1 copy number loss See cases [RCV000052923] Chr9:125993583..129682375 [GRCh38]
Chr9:128755862..132444654 [GRCh37]
Chr9:127795683..131484475 [NCBI36]
Chr9:9q33.3-34.11
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121586837-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|See cases [RCV000053776] Chr9:121586837..138179445 [GRCh38]
Chr9:124349116..141073897 [GRCh37]
Chr9:123388937..140193718 [NCBI36]
Chr9:9q33.2-34.3
pathogenic
NM_001005373.4(LRSAM1):c.355C>G (p.Leu119Val) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001303645] Chr9:127461206 [GRCh38]
Chr9:130223485 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.2120C>T (p.Pro707Leu) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173632]|Charcot-Marie-Tooth disease type 2P [RCV001224770]|Inborn genetic diseases [RCV000190742] Chr9:127502847 [GRCh38]
Chr9:130265126 [GRCh37]
Chr9:9q34.11
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_138361.5(LRSAM1):c.1046A>G (p.Gln349Arg) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001045783]|not provided [RCV000143825] Chr9:127481185 [GRCh38]
Chr9:130243464 [GRCh37]
Chr9:9q33.3
benign|uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3 copy number gain See cases [RCV000134920] Chr9:121073102..138179445 [GRCh38]
Chr9:123835380..141073897 [GRCh37]
Chr9:122875201..140193718 [NCBI36]
Chr9:9q33.2-34.3
pathogenic
GRCh38/hg38 9q33.3-34.11(chr9:125055865-128637946)x1 copy number loss See cases [RCV000137787] Chr9:125055865..128637946 [GRCh38]
Chr9:127818144..131400225 [GRCh37]
Chr9:126857965..130440046 [NCBI36]
Chr9:9q33.3-34.11
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
NM_138361.5(LRSAM1):c.1913-1G>A single nucleotide variant Charcot-Marie-Tooth disease [RCV000192257]|Charcot-Marie-Tooth disease type 2P [RCV000693004] Chr9:127501009 [GRCh38]
Chr9:130263288 [GRCh37]
Chr9:9q34.11
pathogenic|conflicting interpretations of pathogenicity
NM_138361.5(LRSAM1):c.2081G>A (p.Cys694Tyr) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000258766] Chr9:127502808 [GRCh38]
Chr9:130265087 [GRCh37]
Chr9:9q34.11
pathogenic|likely pathogenic
NM_138361.5(LRSAM1):c.1877T>G (p.Val626Gly) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000649913]|not provided [RCV000213867] Chr9:127497299 [GRCh38]
Chr9:130259578 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.2003_2015del (p.Leu668fs) deletion Charcot-Marie-Tooth disease type 2P [RCV000696532]|not provided [RCV000214054] Chr9:127501098..127501110 [GRCh38]
Chr9:130263377..130263389 [GRCh37]
Chr9:9q34.11
likely pathogenic
NM_138361.5(LRSAM1):c.268G>A (p.Asp90Asn) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174265]|Charcot-Marie-Tooth disease type 2P [RCV001001954]|not provided [RCV000416142]|not specified [RCV000215809] Chr9:127459018 [GRCh38]
Chr9:130221297 [GRCh37]
Chr9:9q33.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138361.5(LRSAM1):c.136T>C (p.Phe46Leu) single nucleotide variant not provided [RCV000214335] Chr9:127455582 [GRCh38]
Chr9:130217861 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.569G>A (p.Arg190Gln) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000702205]|not specified [RCV000218598] Chr9:127467780 [GRCh38]
Chr9:130230059 [GRCh37]
Chr9:9q33.3
benign|likely benign|uncertain significance
NM_138361.5(LRSAM1):c.2068T>C (p.Cys690Arg) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000234917]|not provided [RCV001171878] Chr9:127502795 [GRCh38]
Chr9:130265074 [GRCh37]
Chr9:9q34.11
pathogenic|likely pathogenic
NM_138361.5(LRSAM1):c.2011C>T (p.Gln671Ter) single nucleotide variant not provided [RCV000214671] Chr9:127501108 [GRCh38]
Chr9:130263387 [GRCh37]
Chr9:9q34.11
likely pathogenic
NM_138361.5(LRSAM1):c.965A>G (p.Gln322Arg) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174258]|Charcot-Marie-Tooth disease type 2P [RCV000230726]|not provided [RCV000423531]|not specified [RCV000238735] Chr9:127479900 [GRCh38]
Chr9:130242179 [GRCh37]
Chr9:9q33.3
benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_138361.5(LRSAM1):c.1830+6C>T single nucleotide variant Charcot-Marie-Tooth disease [RCV001172654]|Charcot-Marie-Tooth disease type 2P [RCV000232919] Chr9:127496101 [GRCh38]
Chr9:130258380 [GRCh37]
Chr9:9q33.3
benign|likely benign
NM_138361.5(LRSAM1):c.1279C>T (p.Arg427Ter) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000231111] Chr9:127487695 [GRCh38]
Chr9:130249974 [GRCh37]
Chr9:9q33.3
pathogenic
NM_138361.5(LRSAM1):c.1930G>T (p.Gly644Cys) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000227816] Chr9:127501027 [GRCh38]
Chr9:130263306 [GRCh37]
Chr9:9q34.11
conflicting interpretations of pathogenicity|uncertain significance
NM_138361.5(LRSAM1):c.184G>A (p.Val62Ile) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000649904]|not provided [RCV000235341] Chr9:127457325 [GRCh38]
Chr9:130219604 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.1514C>T (p.Ser505Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001294857]|not specified [RCV000236182] Chr9:127492812 [GRCh38]
Chr9:130255091 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.1975G>A (p.Val659Met) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000545143]|not specified [RCV000236448] Chr9:127501072 [GRCh38]
Chr9:130263351 [GRCh37]
Chr9:9q34.11
benign|likely benign|uncertain significance
NM_138361.5(LRSAM1):c.1870C>G (p.Arg624Gly) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001071744]|not provided [RCV000236486] Chr9:127497292 [GRCh38]
Chr9:130259571 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.2050C>T (p.Gln684Ter) single nucleotide variant not provided [RCV000236553] Chr9:127502777 [GRCh38]
Chr9:130265056 [GRCh37]
Chr9:9q34.11
likely pathogenic
NM_138361.5(LRSAM1):c.586G>A (p.Gly196Ser) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173643]|Charcot-Marie-Tooth disease type 2P [RCV001086245]|not provided [RCV000237057] Chr9:127467797 [GRCh38]
Chr9:130230076 [GRCh37]
Chr9:9q33.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138361.5(LRSAM1):c.1939G>A (p.Val647Ile) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000706947]|not provided [RCV000237094] Chr9:127501036 [GRCh38]
Chr9:130263315 [GRCh37]
Chr9:9q34.11
uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_138361.5(LRSAM1):c.563C>T (p.Pro188Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000544706] Chr9:127467774 [GRCh38]
Chr9:130230053 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.1619G>T (p.Ser540Ile) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173638]|Charcot-Marie-Tooth disease type 2P [RCV000528608] Chr9:127495339 [GRCh38]
Chr9:130257618 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.1537T>C (p.Ser513Pro) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000550340] Chr9:127492835 [GRCh38]
Chr9:130255114 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.*590T>C single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000343748] Chr9:127503489 [GRCh38]
Chr9:130265768 [GRCh37]
Chr9:9q34.11
likely benign|uncertain significance
NM_138361.5(LRSAM1):c.-575C>T single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000285429] Chr9:127451542 [GRCh38]
Chr9:130213821 [GRCh37]
Chr9:9q33.3
benign|likely benign
NM_138361.5(LRSAM1):c.-458A>G single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000321933]|not specified [RCV000422517] Chr9:127451659 [GRCh38]
Chr9:130213938 [GRCh37]
Chr9:9q33.3
likely benign|uncertain significance
NM_138361.5(LRSAM1):c.643C>A (p.Pro215Thr) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000810293]|not provided [RCV001090602] Chr9:127473824 [GRCh38]
Chr9:130236103 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.1772C>T (p.Ala591Val) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000527280] Chr9:127496037 [GRCh38]
Chr9:130258316 [GRCh37]
Chr9:9q33.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138361.5(LRSAM1):c.1368G>A (p.Ala456=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172656]|Charcot-Marie-Tooth disease type 2P [RCV000467337] Chr9:127489464 [GRCh38]
Chr9:130251743 [GRCh37]
Chr9:9q33.3
benign|likely benign
NM_138361.5(LRSAM1):c.1225C>G (p.Gln409Glu) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174262]|Charcot-Marie-Tooth disease type 2P [RCV000476861]|not specified [RCV000610078] Chr9:127485801 [GRCh38]
Chr9:130248080 [GRCh37]
Chr9:9q33.3
likely benign|uncertain significance|not provided
NM_138361.5(LRSAM1):c.284C>T (p.Ala95Val) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000649924] Chr9:127459034 [GRCh38]
Chr9:130221313 [GRCh37]
Chr9:9q33.3
likely benign|uncertain significance
NM_138361.5(LRSAM1):c.904-9C>T single nucleotide variant Charcot-Marie-Tooth disease [RCV001172653]|Charcot-Marie-Tooth disease type 2P [RCV000607049] Chr9:127479830 [GRCh38]
Chr9:130242109 [GRCh37]
Chr9:9q33.3
benign
NM_138361.5(LRSAM1):c.1044-9T>C single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000474027]|not specified [RCV000440718] Chr9:127481174 [GRCh38]
Chr9:130243453 [GRCh37]
Chr9:9q33.3
benign|likely benign
NM_138361.5(LRSAM1):c.1504-5C>G single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000535609] Chr9:127492797 [GRCh38]
Chr9:130255076 [GRCh37]
Chr9:9q33.3
conflicting interpretations of pathogenicity|uncertain significance
NM_138361.5(LRSAM1):c.*350C>A single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000328425] Chr9:127503249 [GRCh38]
Chr9:130265528 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_138361.5(LRSAM1):c.249C>T (p.Ile83=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172652]|Charcot-Marie-Tooth disease type 2P [RCV000601084] Chr9:127457390 [GRCh38]
Chr9:130219669 [GRCh37]
Chr9:9q33.3
benign
NM_138361.5(LRSAM1):c.548C>T (p.Ser183Leu) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172655]|Charcot-Marie-Tooth disease type 2P [RCV000458671] Chr9:127467759 [GRCh38]
Chr9:130230038 [GRCh37]
Chr9:9q33.3
benign|likely benign
NM_138361.5(LRSAM1):c.480C>T (p.Asn160=) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000868159] Chr9:127462325 [GRCh38]
Chr9:130224604 [GRCh37]
Chr9:9q33.3
benign|likely benign
NM_138361.5(LRSAM1):c.*597T>G single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000379909] Chr9:127503496 [GRCh38]
Chr9:130265775 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_138361.5(LRSAM1):c.1199G>A (p.Arg400Gln) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000649923] Chr9:127485775 [GRCh38]
Chr9:130248054 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.*57G>A single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000332076] Chr9:127502956 [GRCh38]
Chr9:130265235 [GRCh37]
Chr9:9q34.11
benign|likely benign
NM_138361.5(LRSAM1):c.1950G>A (p.Thr650=) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000649937] Chr9:127501047 [GRCh38]
Chr9:130263326 [GRCh37]
Chr9:9q34.11
likely benign
NM_138361.5(LRSAM1):c.406+15G>T single nucleotide variant Charcot-Marie-Tooth disease [RCV001174261]|Charcot-Marie-Tooth disease type 2P [RCV000311334]|not specified [RCV000434791] Chr9:127461272 [GRCh38]
Chr9:130223551 [GRCh37]
Chr9:9q33.3
likely benign|uncertain significance
NM_138361.5(LRSAM1):c.1860C>T (p.His620=) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000552204]|Charcot-Marie-Tooth disease, type 2 [RCV000358488]|not specified [RCV000440342] Chr9:127497282 [GRCh38]
Chr9:130259561 [GRCh37]
Chr9:9q33.3
benign|likely benign|uncertain significance
NM_138361.5(LRSAM1):c.685G>A (p.Glu229Lys) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174251]|Charcot-Marie-Tooth disease type 2P [RCV000865000] Chr9:127473866 [GRCh38]
Chr9:130236145 [GRCh37]
Chr9:9q33.3
likely benign|uncertain significance
NM_138361.5(LRSAM1):c.1912+5A>C single nucleotide variant Charcot-Marie-Tooth disease [RCV001172651]|Charcot-Marie-Tooth disease type 2P [RCV000603699] Chr9:127497339 [GRCh38]
Chr9:130259618 [GRCh37]
Chr9:9q33.3
benign
NM_138361.5(LRSAM1):c.751-8C>G single nucleotide variant Charcot-Marie-Tooth disease [RCV001174267]|Charcot-Marie-Tooth disease type 2P [RCV000547902]|not specified [RCV000615347] Chr9:127478926 [GRCh38]
Chr9:130241205 [GRCh37]
Chr9:9q33.3
benign|likely benign|uncertain significance
NM_138361.5(LRSAM1):c.952A>G (p.Asn318Asp) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172650]|Charcot-Marie-Tooth disease type 2P [RCV000612995] Chr9:127479887 [GRCh38]
Chr9:130242166 [GRCh37]
Chr9:9q33.3
benign
NM_138361.5(LRSAM1):c.954C>T (p.Asn318=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174272]|Charcot-Marie-Tooth disease type 2P [RCV000316611] Chr9:127479889 [GRCh38]
Chr9:130242168 [GRCh37]
Chr9:9q33.3
likely benign|uncertain significance
NM_138361.5(LRSAM1):c.458G>A (p.Arg153His) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001057366] Chr9:127462303 [GRCh38]
Chr9:130224582 [GRCh37]
Chr9:9q33.3
conflicting interpretations of pathogenicity|uncertain significance
NM_138361.5(LRSAM1):c.804C>T (p.Leu268=) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001397486]|Charcot-Marie-Tooth disease, type 2 [RCV000319125]|not provided [RCV000876584] Chr9:127479406 [GRCh38]
Chr9:130241685 [GRCh37]
Chr9:9q33.3
likely benign|uncertain significance
NM_138361.5(LRSAM1):c.1746G>A (p.Ser582=) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000862036] Chr9:127496011 [GRCh38]
Chr9:130258290 [GRCh37]
Chr9:9q33.3
likely benign|uncertain significance
NM_138361.5(LRSAM1):c.-338G>A single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000282112] Chr9:127451779 [GRCh38]
Chr9:130214058 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.1781G>A (p.Arg594His) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173640]|Charcot-Marie-Tooth disease type 2P [RCV001224409]|not provided [RCV000726183] Chr9:127496046 [GRCh38]
Chr9:130258325 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.*238G>A single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000273603] Chr9:127503137 [GRCh38]
Chr9:130265416 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_138361.5(LRSAM1):c.615C>G (p.Cys205Trp) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000267630] Chr9:127467826 [GRCh38]
Chr9:130230105 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.*501C>T single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000383018] Chr9:127503400 [GRCh38]
Chr9:130265679 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_138361.5(LRSAM1):c.1073C>T (p.Ser358Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000402956] Chr9:127481212 [GRCh38]
Chr9:130243491 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.-309A>G single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000404973] Chr9:127451808 [GRCh38]
Chr9:130214087 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.1011C>T (p.Ser337=) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000295366]|not specified [RCV000418843] Chr9:127479946 [GRCh38]
Chr9:130242225 [GRCh37]
Chr9:9q33.3
likely benign|uncertain significance
NM_138361.5(LRSAM1):c.*105del deletion Charcot-Marie-Tooth disease, type 2 [RCV000386689] Chr9:127502999 [GRCh38]
Chr9:130265278 [GRCh37]
Chr9:9q34.11
likely benign
NM_138361.5(LRSAM1):c.-78C>T single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000296309] Chr9:127452039 [GRCh38]
Chr9:130214318 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_001005373.3(LRSAM1):c.-189+120_-189+122del microsatellite Charcot-Marie-Tooth disease, type 2 [RCV000337110] Chr9:127451785..127451787 [GRCh38]
Chr9:130214064..130214066 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.*588T>A single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000288791] Chr9:127503487 [GRCh38]
Chr9:130265766 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_138361.5(LRSAM1):c.-401C>T single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000376620] Chr9:127451716 [GRCh38]
Chr9:130213995 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.1109T>C (p.Met370Thr) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000649905]|Inborn genetic diseases [RCV000624898] Chr9:127482970 [GRCh38]
Chr9:130245249 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.1348-1G>A single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000551707] Chr9:127489443 [GRCh38]
Chr9:130251722 [GRCh37]
Chr9:9q33.3
likely pathogenic|uncertain significance
NM_138361.5(LRSAM1):c.2043_2044dup (p.Glu682fs) duplication Charcot-Marie-Tooth disease type 2P [RCV000555275] Chr9:127501138..127501139 [GRCh38]
Chr9:130263417..130263418 [GRCh37]
Chr9:9q34.11
uncertain significance
NC_000009.11:g.(130264298_130265053)_(130265271_?)del deletion Charcot-Marie-Tooth disease type 2P [RCV000735277] Chr9:127502774..127502992 [GRCh38]
Chr9:130265053..130265271 [GRCh37]
Chr9:9q34.11
likely pathogenic
NM_138361.5(LRSAM1):c.1027C>T (p.Leu343=) single nucleotide variant not provided [RCV000415870]|not specified [RCV000438812] Chr9:127479962 [GRCh38]
Chr9:130242241 [GRCh37]
Chr9:9q33.3
likely benign|uncertain significance
NM_138361.5(LRSAM1):c.1941C>T (p.Val647=) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000530489]|not specified [RCV000616235] Chr9:127501038 [GRCh38]
Chr9:130263317 [GRCh37]
Chr9:9q34.11
likely benign
NM_138361.5(LRSAM1):c.498G>A (p.Pro166=) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000534470] Chr9:127462343 [GRCh38]
Chr9:130224622 [GRCh37]
Chr9:9q33.3
likely benign
NM_138361.5(LRSAM1):c.1026G>T (p.Leu342=) single nucleotide variant not provided [RCV000416253]|not specified [RCV000428107] Chr9:127479961 [GRCh38]
Chr9:130242240 [GRCh37]
Chr9:9q33.3
likely benign|uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_138361.5(LRSAM1):c.2093_2104del deletion Charcot-Marie-Tooth disease type 2P [RCV000531303] Chr9:127502810..127502821 [GRCh38]
Chr9:130265089..130265100 [GRCh37]
Chr9:9q34.11
pathogenic|uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain See cases [RCV000447207] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q33.3-34.11(chr9:129079208-130851795)x1 copy number loss See cases [RCV000447376] Chr9:129079208..130851795 [GRCh37]
Chr9:9q33.3-34.11
pathogenic
GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3 copy number gain See cases [RCV000447080] Chr9:128652785..141044751 [GRCh37]
Chr9:9q33.3-34.3
pathogenic
NM_138361.5(LRSAM1):c.63G>A (p.Gln21=) single nucleotide variant not specified [RCV000437781] Chr9:127454590 [GRCh38]
Chr9:130216869 [GRCh37]
Chr9:9q33.3
likely benign
NM_138361.5(LRSAM1):c.1589G>A (p.Arg530Gln) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001068726]|not provided [RCV000427596] Chr9:127492887 [GRCh38]
Chr9:130255166 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.1717C>A (p.Gln573Lys) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000553550] Chr9:127495982 [GRCh38]
Chr9:130258261 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.1974T>C (p.Ser658=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174257]|Charcot-Marie-Tooth disease type 2P [RCV001002275]|not specified [RCV000418084] Chr9:127501071 [GRCh38]
Chr9:130263350 [GRCh37]
Chr9:9q34.11
benign|likely benign
NM_138361.5(LRSAM1):c.2157C>T (p.Ile719=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172660]|Charcot-Marie-Tooth disease type 2P [RCV001082908]|not specified [RCV000424473] Chr9:127502884 [GRCh38]
Chr9:130265163 [GRCh37]
Chr9:9q34.11
benign
NM_138361.5(LRSAM1):c.120G>A (p.Glu40=) single nucleotide variant not specified [RCV000435042] Chr9:127455045 [GRCh38]
Chr9:130217324 [GRCh37]
Chr9:9q33.3
likely benign
NM_138361.5(LRSAM1):c.620-3C>T single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000703907]|not specified [RCV000435112] Chr9:127473798 [GRCh38]
Chr9:130236077 [GRCh37]
Chr9:9q33.3
likely benign|uncertain significance
NM_138361.5(LRSAM1):c.570G>A (p.Arg190=) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000649926]|not specified [RCV000428704] Chr9:127467781 [GRCh38]
Chr9:130230060 [GRCh37]
Chr9:9q33.3
likely benign
NM_138361.5(LRSAM1):c.175-19C>G single nucleotide variant not specified [RCV000419800] Chr9:127457297 [GRCh38]
Chr9:130219576 [GRCh37]
Chr9:9q33.3
likely benign
NM_138361.5(LRSAM1):c.1347+20C>T single nucleotide variant not specified [RCV000436380] Chr9:127487783 [GRCh38]
Chr9:130250062 [GRCh37]
Chr9:9q33.3
likely benign
NM_138361.5(LRSAM1):c.1699-16C>T single nucleotide variant not specified [RCV000429754] Chr9:127495948 [GRCh38]
Chr9:130258227 [GRCh37]
Chr9:9q33.3
likely benign
GRCh37/hg19 9q33.3(chr9:130190914-130222160)x3 copy number gain See cases [RCV000445918] Chr9:130190914..130222160 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.619+13C>T single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001166291]|not specified [RCV000433643] Chr9:127467843 [GRCh38]
Chr9:130230122 [GRCh37]
Chr9:9q33.3
benign|likely benign
NM_138361.5(LRSAM1):c.-19G>A single nucleotide variant not specified [RCV000437041] Chr9:127454509 [GRCh38]
Chr9:130216788 [GRCh37]
Chr9:9q33.3
likely benign
NM_138361.5(LRSAM1):c.2047-15G>A single nucleotide variant not specified [RCV000437122] Chr9:127502759 [GRCh38]
Chr9:130265038 [GRCh37]
Chr9:9q34.11
likely benign
NM_138361.5(LRSAM1):c.2019A>G (p.Ser673=) single nucleotide variant not specified [RCV000437166] Chr9:127501116 [GRCh38]
Chr9:130263395 [GRCh37]
Chr9:9q34.11
likely benign
NM_138361.5(LRSAM1):c.1601C>T (p.Thr534Met) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174252]|Charcot-Marie-Tooth disease type 2P [RCV000863528]|not specified [RCV000437354] Chr9:127495321 [GRCh38]
Chr9:130257600 [GRCh37]
Chr9:9q33.3
likely benign|uncertain significance
NM_138361.5(LRSAM1):c.267C>T (p.His89=) single nucleotide variant not provided [RCV000476278]|not specified [RCV000427037] Chr9:127459017 [GRCh38]
Chr9:130221296 [GRCh37]
Chr9:9q33.3
likely benign
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3 copy number gain See cases [RCV000448784] Chr9:124642754..141146461 [GRCh37]
Chr9:9q33.2-34.3
pathogenic
NM_138361.5(LRSAM1):c.529-6C>T single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000473965] Chr9:127467734 [GRCh38]
Chr9:130230013 [GRCh37]
Chr9:9q33.3
likely benign
NM_138361.5(LRSAM1):c.1089-21_1089-18del microsatellite not specified [RCV000483418] Chr9:127482923..127482926 [GRCh38]
Chr9:130245202..130245205 [GRCh37]
Chr9:9q33.3
likely benign
NM_138361.5(LRSAM1):c.497C>T (p.Pro166Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000459320] Chr9:127462342 [GRCh38]
Chr9:130224621 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.962G>A (p.Arg321Gln) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000474357] Chr9:127479897 [GRCh38]
Chr9:130242176 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.206C>G (p.Ser69Cys) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000460227] Chr9:127457347 [GRCh38]
Chr9:130219626 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.94G>A (p.Asp32Asn) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173637]|Charcot-Marie-Tooth disease type 2P [RCV000463775]|not provided [RCV000493063] Chr9:127455019 [GRCh38]
Chr9:130217298 [GRCh37]
Chr9:9q33.3
conflicting interpretations of pathogenicity|uncertain significance
NM_138361.5(LRSAM1):c.103G>A (p.Asp35Asn) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000467548] Chr9:127455028 [GRCh38]
Chr9:130217307 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.604C>G (p.Gln202Glu) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174255]|Charcot-Marie-Tooth disease type 2P [RCV000467735] Chr9:127467815 [GRCh38]
Chr9:130230094 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.894G>A (p.Thr298=) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000460528] Chr9:127479496 [GRCh38]
Chr9:130241775 [GRCh37]
Chr9:9q33.3
likely benign|conflicting interpretations of pathogenicity
NM_138361.5(LRSAM1):c.2121G>A (p.Pro707=) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000464471] Chr9:127502848 [GRCh38]
Chr9:130265127 [GRCh37]
Chr9:9q34.11
benign
NM_138361.5(LRSAM1):c.2080T>C (p.Cys694Arg) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000468628] Chr9:127502807 [GRCh38]
Chr9:130265086 [GRCh37]
Chr9:9q34.11
pathogenic|likely pathogenic|uncertain significance
NM_138361.5(LRSAM1):c.261T>G (p.Asp87Glu) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001359034]|not provided [RCV000486239] Chr9:127459011 [GRCh38]
Chr9:130221290 [GRCh37]
Chr9:9q33.3
uncertain significance
NC_000009.12:g.(?_127502774)_(127503501_?)del deletion Charcot-Marie-Tooth disease type 2P [RCV000465429] Chr9:127502774..127503501 [GRCh38]
Chr9:130265053..130265780 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_138361.5(LRSAM1):c.2062C>A (p.Leu688Ile) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000476960] Chr9:127502789 [GRCh38]
Chr9:130265068 [GRCh37]
Chr9:9q34.11
likely benign|uncertain significance
NM_138361.5(LRSAM1):c.1780C>T (p.Arg594Cys) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000690760]|not provided [RCV000478781] Chr9:127496045 [GRCh38]
Chr9:130258324 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.1504-2A>G single nucleotide variant not provided [RCV000478929] Chr9:127492800 [GRCh38]
Chr9:130255079 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.904-4del deletion Charcot-Marie-Tooth disease [RCV001174249]|not provided [RCV000497549] Chr9:127479835 [GRCh38]
Chr9:130242114 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.436G>C (p.Val146Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000560711] Chr9:127462281 [GRCh38]
Chr9:130224560 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.1836C>T (p.Gly612=) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000542006]|not specified [RCV000602228] Chr9:127497258 [GRCh38]
Chr9:130259537 [GRCh37]
Chr9:9q33.3
likely benign
NM_138361.5(LRSAM1):c.1660C>T (p.Arg554Trp) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000538775] Chr9:127495380 [GRCh38]
Chr9:130257659 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.1043+5G>A single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000558632] Chr9:127479983 [GRCh38]
Chr9:130242262 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.1329C>T (p.Ile443=) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000536960] Chr9:127487745 [GRCh38]
Chr9:130250024 [GRCh37]
Chr9:9q33.3
likely benign
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3
likely pathogenic
NM_138361.5(LRSAM1):c.1353G>A (p.Ala451=) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000867710]|not specified [RCV000607807] Chr9:127489449 [GRCh38]
Chr9:130251728 [GRCh37]
Chr9:9q33.3
benign|likely benign
NM_138361.5(LRSAM1):c.593C>T (p.Ala198Val) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000559375] Chr9:127467804 [GRCh38]
Chr9:130230083 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.1941C>G (p.Val647=) single nucleotide variant not specified [RCV000616208] Chr9:127501038 [GRCh38]
Chr9:130263317 [GRCh37]
Chr9:9q34.11
likely benign
NM_138361.5(LRSAM1):c.717G>A (p.Thr239=) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000537694] Chr9:127473898 [GRCh38]
Chr9:130236177 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.175-12C>T single nucleotide variant not specified [RCV000601994] Chr9:127457304 [GRCh38]
Chr9:130219583 [GRCh37]
Chr9:9q33.3
likely benign
NM_138361.5(LRSAM1):c.1980G>A (p.Arg660=) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000649925]|not specified [RCV000607513] Chr9:127501077 [GRCh38]
Chr9:130263356 [GRCh37]
Chr9:9q34.11
likely benign
NM_138361.5(LRSAM1):c.2153G>A (p.Arg718His) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000649903] Chr9:127502880 [GRCh38]
Chr9:130265159 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_138361.5(LRSAM1):c.1510A>T (p.Ile504Phe) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000649906] Chr9:127492808 [GRCh38]
Chr9:130255087 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.2095T>C (p.Cys699Arg) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000649907] Chr9:127502822 [GRCh38]
Chr9:130265101 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_138361.5(LRSAM1):c.1160C>A (p.Ser387Tyr) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000649908] Chr9:127485736 [GRCh38]
Chr9:130248015 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.2110C>T (p.Arg704Cys) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000649909] Chr9:127502837 [GRCh38]
Chr9:130265116 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_138361.5(LRSAM1):c.1936G>A (p.Val646Ile) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000649910] Chr9:127501033 [GRCh38]
Chr9:130263312 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_138361.5(LRSAM1):c.1013G>A (p.Arg338Gln) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000649911] Chr9:127479948 [GRCh38]
Chr9:130242227 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.89C>A (p.Ala30Glu) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000649912] Chr9:127455014 [GRCh38]
Chr9:130217293 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.388C>T (p.Gln130Ter) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000649914] Chr9:127461239 [GRCh38]
Chr9:130223518 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.252+1G>A single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000649915] Chr9:127457394 [GRCh38]
Chr9:130219673 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.2076C>A (p.His692Gln) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000649916] Chr9:127502803 [GRCh38]
Chr9:130265082 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_138361.5(LRSAM1):c.636C>G (p.Tyr212Ter) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000649917] Chr9:127473817 [GRCh38]
Chr9:130236096 [GRCh37]
Chr9:9q33.3
pathogenic
NM_138361.5(LRSAM1):c.1352C>T (p.Ala451Val) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000649918] Chr9:127489448 [GRCh38]
Chr9:130251727 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.1067T>C (p.Leu356Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000649919] Chr9:127481206 [GRCh38]
Chr9:130243485 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.2042G>A (p.Arg681Gln) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000649920] Chr9:127501139 [GRCh38]
Chr9:130263418 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_138361.5(LRSAM1):c.392C>T (p.Thr131Ile) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173635]|Charcot-Marie-Tooth disease type 2P [RCV000649921] Chr9:127461243 [GRCh38]
Chr9:130223522 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.2102del (p.Gln701fs) deletion Charcot-Marie-Tooth disease type 2P [RCV000649922] Chr9:127502829 [GRCh38]
Chr9:130265108 [GRCh37]
Chr9:9q34.11
likely pathogenic
NM_138361.5(LRSAM1):c.840G>A (p.Glu280=) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001400513]|not provided [RCV000649927] Chr9:127479442 [GRCh38]
Chr9:130241721 [GRCh37]
Chr9:9q33.3
likely benign
NM_138361.5(LRSAM1):c.192G>A (p.Thr64=) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000649928] Chr9:127457333 [GRCh38]
Chr9:130219612 [GRCh37]
Chr9:9q33.3
likely benign
NM_138361.5(LRSAM1):c.567G>A (p.Pro189=) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001409834]|not provided [RCV000649929] Chr9:127467778 [GRCh38]
Chr9:130230057 [GRCh37]
Chr9:9q33.3
likely benign
NM_138361.5(LRSAM1):c.783A>G (p.Glu261=) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000649930] Chr9:127479385 [GRCh38]
Chr9:130241664 [GRCh37]
Chr9:9q33.3
likely benign
NM_138361.5(LRSAM1):c.1026_1027delinsTT (p.Leu342_Leu343=) indel Charcot-Marie-Tooth disease [RCV001174260]|Charcot-Marie-Tooth disease type 2P [RCV000649931] Chr9:127479961..127479962 [GRCh38]
Chr9:130242240..130242241 [GRCh37]
Chr9:9q33.3
likely benign
NM_138361.5(LRSAM1):c.2094G>A (p.Gln698=) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000649933] Chr9:127502821 [GRCh38]
Chr9:130265100 [GRCh37]
Chr9:9q34.11
likely benign
NM_138361.5(LRSAM1):c.2139C>T (p.Ile713=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172644]|Charcot-Marie-Tooth disease type 2P [RCV000649934] Chr9:127502866 [GRCh38]
Chr9:130265145 [GRCh37]
Chr9:9q34.11
likely benign
NM_138361.5(LRSAM1):c.2028C>T (p.Val676=) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000649935] Chr9:127501125 [GRCh38]
Chr9:130263404 [GRCh37]
Chr9:9q34.11
likely benign
NM_138361.5(LRSAM1):c.469A>G (p.Ile157Val) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000649936] Chr9:127462314 [GRCh38]
Chr9:130224593 [GRCh37]
Chr9:9q33.3
likely benign
NM_138361.5(LRSAM1):c.1236C>T (p.Asn412=) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000649938] Chr9:127485812 [GRCh38]
Chr9:130248091 [GRCh37]
Chr9:9q33.3
likely benign
NM_138361.5(LRSAM1):c.1602G>A (p.Thr534=) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000649939] Chr9:127495322 [GRCh38]
Chr9:130257601 [GRCh37]
Chr9:9q33.3
likely benign
NM_138361.5(LRSAM1):c.1632G>A (p.Gln544=) single nucleotide variant not provided [RCV000649940] Chr9:127495352 [GRCh38]
Chr9:130257631 [GRCh37]
Chr9:9q33.3
likely benign
NM_138361.5(LRSAM1):c.513C>T (p.His171=) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001087638]|not provided [RCV000841389] Chr9:127462358 [GRCh38]
Chr9:130224637 [GRCh37]
Chr9:9q33.3
likely benign
NM_138361.5(LRSAM1):c.253-9C>T single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000862478]|not specified [RCV000602213] Chr9:127458994 [GRCh38]
Chr9:130221273 [GRCh37]
Chr9:9q33.3
likely benign
NM_138361.5(LRSAM1):c.750+15C>G single nucleotide variant not specified [RCV000616610] Chr9:127473946 [GRCh38]
Chr9:130236225 [GRCh37]
Chr9:9q33.3
likely benign
NM_138361.5(LRSAM1):c.619+11G>A single nucleotide variant Charcot-Marie-Tooth disease [RCV001172643]|not specified [RCV000616717] Chr9:127467841 [GRCh38]
Chr9:130230120 [GRCh37]
Chr9:9q33.3
likely benign
NM_138361.5(LRSAM1):c.993G>A (p.Thr331=) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001400055]|not specified [RCV000616735] Chr9:127479928 [GRCh38]
Chr9:130242207 [GRCh37]
Chr9:9q33.3
likely benign
NM_138361.5(LRSAM1):c.1043+18G>A single nucleotide variant not specified [RCV000611463] Chr9:127479996 [GRCh38]
Chr9:130242275 [GRCh37]
Chr9:9q33.3
likely benign
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_138361.5(LRSAM1):c.1892A>G (p.Asp631Gly) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000697815] Chr9:127497314 [GRCh38]
Chr9:130259593 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.1347+5G>A single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001308472]|not provided [RCV000658269] Chr9:127487768 [GRCh38]
Chr9:130250047 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.146T>C (p.Phe49Ser) single nucleotide variant not provided [RCV000659122] Chr9:127455592 [GRCh38]
Chr9:130217871 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.300G>A (p.Leu100=) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000700266] Chr9:127459050 [GRCh38]
Chr9:130221329 [GRCh37]
Chr9:9q33.3
uncertain significance
GRCh37/hg19 9q33.3-34.11(chr9:130000337-130310336)x3 copy number gain not provided [RCV000683108] Chr9:130000337..130310336 [GRCh37]
Chr9:9q33.3-34.11
likely benign
NM_138361.5(LRSAM1):c.528G>A (p.Glu176=) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000688344] Chr9:127462373 [GRCh38]
Chr9:130224652 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.1076T>G (p.Leu359Arg) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000685766] Chr9:127481215 [GRCh38]
Chr9:130243494 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.1694del (p.Leu565fs) deletion Charcot-Marie-Tooth disease type 2P [RCV000700660] Chr9:127495414 [GRCh38]
Chr9:130257693 [GRCh37]
Chr9:9q33.3
pathogenic
NM_138361.5(LRSAM1):c.1236C>A (p.Asn412Lys) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000685827] Chr9:127485812 [GRCh38]
Chr9:130248091 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.1264G>T (p.Ala422Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000701077] Chr9:127487680 [GRCh38]
Chr9:130249959 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.2047-1G>A single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000686342] Chr9:127502773 [GRCh38]
Chr9:130265052 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_138361.5(LRSAM1):c.2146C>T (p.Arg716Cys) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000701364]|not provided [RCV001354440] Chr9:127502873 [GRCh38]
Chr9:130265152 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_138361.5(LRSAM1):c.2152C>T (p.Arg718Cys) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000704151] Chr9:127502879 [GRCh38]
Chr9:130265158 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_138361.5(LRSAM1):c.1153G>A (p.Val385Ile) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000701520] Chr9:127483014 [GRCh38]
Chr9:130245293 [GRCh37]
Chr9:9q33.3
conflicting interpretations of pathogenicity|uncertain significance
NM_138361.5(LRSAM1):c.2104_2133dup (p.Pro702_Gln711dup) duplication Charcot-Marie-Tooth disease type 2P [RCV000709699] Chr9:127502825..127502826 [GRCh38]
Chr9:130265104..130265105 [GRCh37]
Chr9:9q34.11
pathogenic
NM_138361.5(LRSAM1):c.2036T>C (p.Leu679Pro) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000691020] Chr9:127501133 [GRCh38]
Chr9:130263412 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_138361.5(LRSAM1):c.82G>T (p.Ala28Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000694033] Chr9:127455007 [GRCh38]
Chr9:130217286 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.580G>A (p.Gly194Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000688803] Chr9:127467791 [GRCh38]
Chr9:130230070 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.1837G>A (p.Val613Ile) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173647]|Charcot-Marie-Tooth disease type 2P [RCV000692065] Chr9:127497259 [GRCh38]
Chr9:130259538 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.1043+2T>G single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000700711] Chr9:127479980 [GRCh38]
Chr9:130242259 [GRCh37]
Chr9:9q33.3
likely pathogenic
NM_138361.5(LRSAM1):c.375C>A (p.Asn125Lys) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000697202] Chr9:127461226 [GRCh38]
Chr9:130223505 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.695G>A (p.Arg232Gln) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000706611] Chr9:127473876 [GRCh38]
Chr9:130236155 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.2041C>T (p.Arg681Trp) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000703983] Chr9:127501138 [GRCh38]
Chr9:130263417 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_138361.5(LRSAM1):c.1747G>A (p.Ala583Thr) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000706743] Chr9:127496012 [GRCh38]
Chr9:130258291 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.91G>A (p.Asp31Asn) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000694991] Chr9:127455016 [GRCh38]
Chr9:130217295 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.64A>T (p.Met22Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000687749] Chr9:127454591 [GRCh38]
Chr9:130216870 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.1145G>A (p.Arg382Gln) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000687798] Chr9:127483006 [GRCh38]
Chr9:130245285 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.1963C>T (p.Pro655Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000707532] Chr9:127501060 [GRCh38]
Chr9:130263339 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_138361.5(LRSAM1):c.2042G>C (p.Arg681Pro) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000705434] Chr9:127501139 [GRCh38]
Chr9:130263418 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_138361.5(LRSAM1):c.1367C>T (p.Ala456Val) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000696761] Chr9:127489463 [GRCh38]
Chr9:130251742 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.1806A>T (p.Gln602His) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000696855] Chr9:127496071 [GRCh38]
Chr9:130258350 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.122T>C (p.Leu41Pro) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000692216] Chr9:127455047 [GRCh38]
Chr9:130217326 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.1871G>A (p.Arg624Gln) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001052069] Chr9:127497293 [GRCh38]
Chr9:130259572 [GRCh37]
Chr9:9q33.3
uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q33.3-34.12(chr9:129370440-133866894)x1 copy number loss not provided [RCV000748671] Chr9:129370440..133866894 [GRCh37]
Chr9:9q33.3-34.12
pathogenic
GRCh37/hg19 9q33.3-34.11(chr9:129522693-131410039)x1 copy number loss not provided [RCV000748677] Chr9:129522693..131410039 [GRCh37]
Chr9:9q33.3-34.11
benign
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_138361.5(LRSAM1):c.1889_1894del (p.Leu630_Ala632delinsPro) deletion not provided [RCV000762572] Chr9:127497311..127497316 [GRCh38]
Chr9:130259590..130259595 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.568C>T (p.Arg190Trp) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001060265] Chr9:127467779 [GRCh38]
Chr9:130230058 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.972G>A (p.Leu324=) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001168521]|not provided [RCV000999212] Chr9:127479907 [GRCh38]
Chr9:130242186 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.706G>A (p.Asp236Asn) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001166292] Chr9:127473887 [GRCh38]
Chr9:130236166 [GRCh37]
Chr9:9q33.3
likely benign
NM_138361.5(LRSAM1):c.1699-3C>T single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001166348] Chr9:127495961 [GRCh38]
Chr9:130258240 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.1161C>T (p.Ser387=) single nucleotide variant not provided [RCV000904141] Chr9:127485737 [GRCh38]
Chr9:130248016 [GRCh37]
Chr9:9q33.3
likely benign
NM_138361.5(LRSAM1):c.917T>G (p.Leu306Arg) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000983889] Chr9:127479852 [GRCh38]
Chr9:130242131 [GRCh37]
Chr9:9q33.3
likely benign
NM_138361.5(LRSAM1):c.231C>T (p.Leu77=) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001398308]|not provided [RCV000866624] Chr9:127457372 [GRCh38]
Chr9:130219651 [GRCh37]
Chr9:9q33.3
likely benign
NM_138361.5(LRSAM1):c.822G>A (p.Leu274=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172641]|Charcot-Marie-Tooth disease type 2P [RCV000865107] Chr9:127479424 [GRCh38]
Chr9:130241703 [GRCh37]
Chr9:9q33.3
likely benign
NM_138361.5(LRSAM1):c.1515G>A (p.Ser505=) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000869605] Chr9:127492813 [GRCh38]
Chr9:130255092 [GRCh37]
Chr9:9q33.3
likely benign|conflicting interpretations of pathogenicity
NM_138361.5(LRSAM1):c.1160-7C>T single nucleotide variant Charcot-Marie-Tooth disease [RCV001174268]|Charcot-Marie-Tooth disease type 2P [RCV001402283]|not provided [RCV000866788] Chr9:127485729 [GRCh38]
Chr9:130248008 [GRCh37]
Chr9:9q33.3
likely benign
NM_138361.5(LRSAM1):c.620-9C>G single nucleotide variant not provided [RCV000882211] Chr9:127473792 [GRCh38]
Chr9:130236071 [GRCh37]
Chr9:9q33.3
likely benign
NM_138361.5(LRSAM1):c.814C>T (p.Arg272Trp) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173644]|Charcot-Marie-Tooth disease type 2P [RCV000863251] Chr9:127479416 [GRCh38]
Chr9:130241695 [GRCh37]
Chr9:9q33.3
likely benign|uncertain significance
NM_138361.5(LRSAM1):c.1131T>A (p.Thr377=) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000866013] Chr9:127482992 [GRCh38]
Chr9:130245271 [GRCh37]
Chr9:9q33.3
benign
NM_138361.5(LRSAM1):c.1885C>T (p.Leu629=) single nucleotide variant not provided [RCV000863569] Chr9:127497307 [GRCh38]
Chr9:130259586 [GRCh37]
Chr9:9q33.3
likely benign
NM_138361.5(LRSAM1):c.6G>A (p.Pro2=) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000866091] Chr9:127454533 [GRCh38]
Chr9:130216812 [GRCh37]
Chr9:9q33.3
likely benign
NM_138361.5(LRSAM1):c.1912+10C>T single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000983616] Chr9:127497344 [GRCh38]
Chr9:130259623 [GRCh37]
Chr9:9q33.3
likely benign
NM_138361.5(LRSAM1):c.645T>A (p.Pro215=) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001398318]|not provided [RCV000867349] Chr9:127473826 [GRCh38]
Chr9:130236105 [GRCh37]
Chr9:9q33.3
likely benign
NM_138361.5(LRSAM1):c.1978_1979dup (p.Pro661fs) duplication Charcot-Marie-Tooth disease type 2P [RCV001044043] Chr9:127501073..127501074 [GRCh38]
Chr9:130263352..130263353 [GRCh37]
Chr9:9q34.11
likely pathogenic
NM_138361.5(LRSAM1):c.1332C>A (p.Ser444Arg) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001051388] Chr9:127487748 [GRCh38]
Chr9:130250027 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.775A>T (p.Arg259Trp) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001039577] Chr9:127478958 [GRCh38]
Chr9:130241237 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.1819G>T (p.Asp607Tyr) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001045524] Chr9:127496084 [GRCh38]
Chr9:130258363 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.968G>A (p.Arg323Gln) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001045727] Chr9:127479903 [GRCh38]
Chr9:130242182 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.1815del (p.Asp607fs) deletion Charcot-Marie-Tooth disease [RCV001173627]|Charcot-Marie-Tooth disease type 2P [RCV001065554] Chr9:127496080 [GRCh38]
Chr9:130258359 [GRCh37]
Chr9:9q33.3
pathogenic
NC_000009.12:g.(?_127454518)_(127502909_?)dup duplication Charcot-Marie-Tooth disease type 2P [RCV001032898] Chr9:130216797..130265188 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.2009T>C (p.Val670Ala) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001035039] Chr9:127501106 [GRCh38]
Chr9:130263385 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_138361.5(LRSAM1):c.1348-6T>A single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001070362] Chr9:127489438 [GRCh38]
Chr9:130251717 [GRCh37]
Chr9:9q33.3
likely benign|uncertain significance
NM_138361.5(LRSAM1):c.1913-167_1913-163del deletion not provided [RCV000826391] Chr9:127500843..127500847 [GRCh38]
Chr9:130263122..130263126 [GRCh37]
Chr9:9q34.11
likely benign
NM_138361.5(LRSAM1):c.694C>T (p.Arg232Trp) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000792189] Chr9:127473875 [GRCh38]
Chr9:130236154 [GRCh37]
Chr9:9q33.3
uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_138361.5(LRSAM1):c.1406G>A (p.Arg469Gln) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174254]|Charcot-Marie-Tooth disease type 2P [RCV000863916] Chr9:127489502 [GRCh38]
Chr9:130251781 [GRCh37]
Chr9:9q33.3
likely benign|uncertain significance
NM_138361.5(LRSAM1):c.2140G>A (p.Ala714Thr) single nucleotide variant not provided [RCV000862811] Chr9:127502867 [GRCh38]
Chr9:130265146 [GRCh37]
Chr9:9q34.11
likely benign
NM_138361.5(LRSAM1):c.1035C>T (p.Asp345=) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001168522]|not provided [RCV000938323] Chr9:127479970 [GRCh38]
Chr9:130242249 [GRCh37]
Chr9:9q33.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138361.5(LRSAM1):c.1629G>A (p.Arg543=) single nucleotide variant not provided [RCV000920884] Chr9:127495349 [GRCh38]
Chr9:130257628 [GRCh37]
Chr9:9q33.3
likely benign
NM_138361.5(LRSAM1):c.86G>C (p.Gly29Ala) single nucleotide variant Charcot-Marie-Tooth disease [RCV000857212] Chr9:127455011 [GRCh38]
Chr9:130217290 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.75A>C (p.Ala25=) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001434905]|not provided [RCV000874518] Chr9:127455000 [GRCh38]
Chr9:130217279 [GRCh37]
Chr9:9q33.3
likely benign
NM_138361.5(LRSAM1):c.786G>A (p.Gln262=) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000983190] Chr9:127479388 [GRCh38]
Chr9:130241667 [GRCh37]
Chr9:9q33.3
likely benign
NM_138361.5(LRSAM1):c.2028C>G (p.Val676=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174270]|Charcot-Marie-Tooth disease type 2P [RCV000966630] Chr9:127501125 [GRCh38]
Chr9:130263404 [GRCh37]
Chr9:9q34.11
likely benign
NM_138361.5(LRSAM1):c.1071A>G (p.Lys357=) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001404723]|not provided [RCV000977956] Chr9:127481210 [GRCh38]
Chr9:130243489 [GRCh37]
Chr9:9q33.3
likely benign
NM_138361.5(LRSAM1):c.44G>A (p.Arg15Gln) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000809265] Chr9:127454571 [GRCh38]
Chr9:130216850 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.1102C>G (p.Gln368Glu) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000822603] Chr9:127482963 [GRCh38]
Chr9:130245242 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.1802G>C (p.Ser601Thr) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000793381] Chr9:127496067 [GRCh38]
Chr9:130258346 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.750+313G>A single nucleotide variant not provided [RCV000832734] Chr9:127474244 [GRCh38]
Chr9:130236523 [GRCh37]
Chr9:9q33.3
likely benign
NM_138361.5(LRSAM1):c.1044-313G>A single nucleotide variant not provided [RCV000832735] Chr9:127480870 [GRCh38]
Chr9:130243149 [GRCh37]
Chr9:9q33.3
likely benign
NM_138361.5(LRSAM1):c.382C>A (p.Gln128Lys) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000813497] Chr9:127461233 [GRCh38]
Chr9:130223512 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.102C>T (p.Leu34=) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000869475] Chr9:127455027 [GRCh38]
Chr9:130217306 [GRCh37]
Chr9:9q33.3
likely benign
NM_138361.5(LRSAM1):c.893C>T (p.Thr298Met) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000810291] Chr9:127479495 [GRCh38]
Chr9:130241774 [GRCh37]
Chr9:9q33.3
uncertain significance
NC_000009.11:g.(?_130216797)_(130953151_?)dup duplication Congenital disorder of glycosylation type 1u [RCV000821291] Chr9:127454518..128190872 [GRCh38]
Chr9:130216797..130953151 [GRCh37]
Chr9:9q33.3-34.11
uncertain significance
NM_138361.5(LRSAM1):c.-33+51C>T single nucleotide variant not provided [RCV000833326] Chr9:127452135 [GRCh38]
Chr9:130214414 [GRCh37]
Chr9:9q33.3
benign
NM_138361.5(LRSAM1):c.1088+114C>T single nucleotide variant not provided [RCV000833327] Chr9:127481341 [GRCh38]
Chr9:130243620 [GRCh37]
Chr9:9q33.3
benign
NM_138361.5(LRSAM1):c.2047-39C>T single nucleotide variant not provided [RCV000833328] Chr9:127502735 [GRCh38]
Chr9:130265014 [GRCh37]
Chr9:9q34.11
benign
NM_138361.5(LRSAM1):c.1498C>T (p.Leu500Phe) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000824185] Chr9:127491290 [GRCh38]
Chr9:130253569 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.252+71T>C single nucleotide variant not provided [RCV000829692] Chr9:127457464 [GRCh38]
Chr9:130219743 [GRCh37]
Chr9:9q33.3
benign
NM_138361.5(LRSAM1):c.1162G>A (p.Ala388Thr) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000811536] Chr9:127485738 [GRCh38]
Chr9:130248017 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.2019dup (p.Glu674fs) duplication Charcot-Marie-Tooth disease [RCV001173629]|Charcot-Marie-Tooth disease type 2P [RCV000806958] Chr9:127501115..127501116 [GRCh38]
Chr9:130263394..130263395 [GRCh37]
Chr9:9q34.11
pathogenic|likely pathogenic
NM_138361.5(LRSAM1):c.937C>T (p.His313Tyr) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000798251] Chr9:127479872 [GRCh38]
Chr9:130242151 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.252+134T>C single nucleotide variant not provided [RCV000836521] Chr9:127457527 [GRCh38]
Chr9:130219806 [GRCh37]
Chr9:9q33.3
likely benign
NM_138361.5(LRSAM1):c.751-233A>G single nucleotide variant not provided [RCV000843269] Chr9:127478701 [GRCh38]
Chr9:130240980 [GRCh37]
Chr9:9q33.3
benign
NM_138361.5(LRSAM1):c.1423-208_1423-207insA insertion not provided [RCV000843270] Chr9:127491007..127491008 [GRCh38]
Chr9:130253286..130253287 [GRCh37]
Chr9:9q33.3
benign
NM_138361.5(LRSAM1):c.72+172C>G single nucleotide variant not provided [RCV000843271] Chr9:127454771 [GRCh38]
Chr9:130217050 [GRCh37]
Chr9:9q33.3
benign
NM_138361.5(LRSAM1):c.175-186G>T single nucleotide variant not provided [RCV000843272] Chr9:127457130 [GRCh38]
Chr9:130219409 [GRCh37]
Chr9:9q33.3
benign
NM_138361.5(LRSAM1):c.321+182G>A single nucleotide variant not provided [RCV000843273] Chr9:127459253 [GRCh38]
Chr9:130221532 [GRCh37]
Chr9:9q33.3
benign
NM_138361.5(LRSAM1):c.406+218G>A single nucleotide variant not provided [RCV000843274] Chr9:127461475 [GRCh38]
Chr9:130223754 [GRCh37]
Chr9:9q33.3
benign
NM_138361.5(LRSAM1):c.620-183G>A single nucleotide variant not provided [RCV000843275] Chr9:127473618 [GRCh38]
Chr9:130235897 [GRCh37]
Chr9:9q33.3
benign
NM_138361.5(LRSAM1):c.1159+246G>C single nucleotide variant not provided [RCV000843276] Chr9:127483266 [GRCh38]
Chr9:130245545 [GRCh37]
Chr9:9q33.3
benign
NM_138361.5(LRSAM1):c.2087G>A (p.Cys696Tyr) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173639]|Charcot-Marie-Tooth disease type 2P [RCV000791810] Chr9:127502814 [GRCh38]
Chr9:130265093 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_138361.5(LRSAM1):c.321+38T>C single nucleotide variant not provided [RCV000829693] Chr9:127459109 [GRCh38]
Chr9:130221388 [GRCh37]
Chr9:9q33.3
benign
NM_138361.5(LRSAM1):c.1905C>G (p.Ile635Met) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000815183] Chr9:127497327 [GRCh38]
Chr9:130259606 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.322-269G>A single nucleotide variant not provided [RCV000835071] Chr9:127460904 [GRCh38]
Chr9:130223183 [GRCh37]
Chr9:9q33.3
benign
NM_138361.5(LRSAM1):c.2046+32C>T single nucleotide variant not provided [RCV000835072] Chr9:127501175 [GRCh38]
Chr9:130263454 [GRCh37]
Chr9:9q34.11
benign
NM_138361.5(LRSAM1):c.2047-3C>T single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000857217] Chr9:127502771 [GRCh38]
Chr9:130265050 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_138361.5(LRSAM1):c.904-67C>T single nucleotide variant not provided [RCV000835336] Chr9:127479772 [GRCh38]
Chr9:130242051 [GRCh37]
Chr9:9q33.3
likely benign
NM_138361.5(LRSAM1):c.1957dup (p.Gln653fs) duplication Charcot-Marie-Tooth disease type 2P [RCV000792295] Chr9:127501048..127501049 [GRCh38]
Chr9:130263327..130263328 [GRCh37]
Chr9:9q34.11
pathogenic
NM_138361.5(LRSAM1):c.1091T>C (p.Ile364Thr) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000813445] Chr9:127482952 [GRCh38]
Chr9:130245231 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.1088+1G>C single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000813526] Chr9:127481228 [GRCh38]
Chr9:130243507 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.17G>A (p.Arg6Gln) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000796115] Chr9:127454544 [GRCh38]
Chr9:130216823 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.1921C>T (p.Pro641Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000793546] Chr9:127501018 [GRCh38]
Chr9:130263297 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_001005373.4(LRSAM1):c.1493_1494del (p.Glu498fs) microsatellite Charcot-Marie-Tooth disease type 2P [RCV000799835] Chr9:127491283..127491284 [GRCh38]
Chr9:130253562..130253563 [GRCh37]
Chr9:9q33.3
pathogenic
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3
pathogenic
NM_138361.5(LRSAM1):c.1060G>A (p.Glu354Lys) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000812996] Chr9:127481199 [GRCh38]
Chr9:130243478 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.1347+6C>T single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000797651] Chr9:127487769 [GRCh38]
Chr9:130250048 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.1142G>A (p.Arg381Gln) single nucleotide variant Charcot-Marie-Tooth disease [RCV000857214]|Charcot-Marie-Tooth disease type 2P [RCV000823949] Chr9:127483003 [GRCh38]
Chr9:130245282 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.2108T>C (p.Leu703Pro) single nucleotide variant Charcot-Marie-Tooth disease [RCV001027504]|Charcot-Marie-Tooth disease type 2P [RCV000810804] Chr9:127502835 [GRCh38]
Chr9:130265114 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_138361.5(LRSAM1):c.620-296C>T single nucleotide variant not provided [RCV000828952] Chr9:127473505 [GRCh38]
Chr9:130235784 [GRCh37]
Chr9:9q33.3
likely benign
NM_138361.5(LRSAM1):c.847_1088+563del deletion Charcot-Marie-Tooth disease type 2P [RCV000805411] Chr9:127479449..127481790 [GRCh38]
Chr9:130241728..130244069 [GRCh37]
Chr9:9q33.3
likely pathogenic
NM_138361.5(LRSAM1):c.1348-108C>A single nucleotide variant not provided [RCV000843277] Chr9:127489336 [GRCh38]
Chr9:130251615 [GRCh37]
Chr9:9q33.3
benign
NM_138361.5(LRSAM1):c.1348-211G>A single nucleotide variant not provided [RCV000843278] Chr9:127489233 [GRCh38]
Chr9:130251512 [GRCh37]
Chr9:9q33.3
benign
NM_138361.5(LRSAM1):c.1503+216C>T single nucleotide variant not provided [RCV000843279] Chr9:127491511 [GRCh38]
Chr9:130253790 [GRCh37]
Chr9:9q33.3
benign
NM_138361.5(LRSAM1):c.1699-83A>T single nucleotide variant not provided [RCV000843280] Chr9:127495881 [GRCh38]
Chr9:130258160 [GRCh37]
Chr9:9q33.3
benign
NM_138361.5(LRSAM1):c.1912+43G>A single nucleotide variant not provided [RCV000843281] Chr9:127497377 [GRCh38]
Chr9:130259656 [GRCh37]
Chr9:9q33.3
benign
NM_138361.5(LRSAM1):c.13T>C (p.Phe5Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000809815] Chr9:127454540 [GRCh38]
Chr9:130216819 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.676G>A (p.Asp226Asn) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001057387] Chr9:127473857 [GRCh38]
Chr9:130236136 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.390G>C (p.Gln130His) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001169202] Chr9:127461241 [GRCh38]
Chr9:130223520 [GRCh37]
Chr9:9q33.3
uncertain significance
NC_000009.12:g.(?_127501000)_(127501153_?)del deletion Charcot-Marie-Tooth disease type 2P [RCV000798815] Chr9:127501000..127501153 [GRCh38]
Chr9:130263279..130263432 [GRCh37]
Chr9:9q34.11
pathogenic
NM_138361.5(LRSAM1):c.-567G>A single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001166755] Chr9:127451550 [GRCh38]
Chr9:130213829 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.1035C>G (p.Asp345Glu) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000810219] Chr9:127479970 [GRCh38]
Chr9:130242249 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.1913-249C>T single nucleotide variant not provided [RCV000843299] Chr9:127500761 [GRCh38]
Chr9:130263040 [GRCh37]
Chr9:9q34.11
benign
NM_138361.5(LRSAM1):c.1913-189G>A single nucleotide variant not provided [RCV000843300] Chr9:127500821 [GRCh38]
Chr9:130263100 [GRCh37]
Chr9:9q34.11
benign
NM_138361.5(LRSAM1):c.1952C>T (p.Ala651Val) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000819399] Chr9:127501049 [GRCh38]
Chr9:130263328 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_138361.5(LRSAM1):c.528+275A>G single nucleotide variant not provided [RCV000844450] Chr9:127462648 [GRCh38]
Chr9:130224927 [GRCh37]
Chr9:9q33.3
benign
NM_138361.5(LRSAM1):c.1259+252T>A single nucleotide variant not provided [RCV000844453] Chr9:127486087 [GRCh38]
Chr9:130248366 [GRCh37]
Chr9:9q33.3
benign
NM_138361.5(LRSAM1):c.2046+1G>T single nucleotide variant Charcot-Marie-Tooth disease [RCV000789358] Chr9:127501144 [GRCh38]
Chr9:130263423 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_138361.5(LRSAM1):c.1037A>G (p.Asn346Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000794875] Chr9:127479972 [GRCh38]
Chr9:130242251 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.903+38T>C single nucleotide variant Charcot-Marie-Tooth disease [RCV001172658]|not provided [RCV000829649] Chr9:127479543 [GRCh38]
Chr9:130241822 [GRCh37]
Chr9:9q33.3
benign
NM_138361.5(LRSAM1):c.750+33G>A single nucleotide variant Charcot-Marie-Tooth disease [RCV001172657]|not provided [RCV000829650] Chr9:127473964 [GRCh38]
Chr9:130236243 [GRCh37]
Chr9:9q33.3
benign
NM_138361.5(LRSAM1):c.72+73G>T single nucleotide variant not provided [RCV000829691] Chr9:127454672 [GRCh38]
Chr9:130216951 [GRCh37]
Chr9:9q33.3
benign
NM_138361.5(LRSAM1):c.1588C>T (p.Arg530Trp) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000800823] Chr9:127492886 [GRCh38]
Chr9:130255165 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.1382A>T (p.Gln461Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001079072]|not provided [RCV000842252] Chr9:127489478 [GRCh38]
Chr9:130251757 [GRCh37]
Chr9:9q33.3
likely benign
NM_138361.5(LRSAM1):c.2119C>T (p.Pro707Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000823842] Chr9:127502846 [GRCh38]
Chr9:130265125 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_138361.5(LRSAM1):c.846C>G (p.Thr282=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174264]|Charcot-Marie-Tooth disease type 2P [RCV000976952] Chr9:127479448 [GRCh38]
Chr9:130241727 [GRCh37]
Chr9:9q33.3
benign|likely benign
NM_138361.5(LRSAM1):c.1789C>T (p.Leu597=) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000872864] Chr9:127496054 [GRCh38]
Chr9:130258333 [GRCh37]
Chr9:9q33.3
likely benign
NM_138361.5(LRSAM1):c.330C>T (p.Asn110=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172639] Chr9:127461181 [GRCh38]
Chr9:130223460 [GRCh37]
Chr9:9q33.3
likely benign
NM_138361.5(LRSAM1):c.1422+15T>A single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001169277] Chr9:127489533 [GRCh38]
Chr9:130251812 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.1775A>C (p.His592Pro) single nucleotide variant Charcot-Marie-Tooth disease [RCV000857215] Chr9:127496040 [GRCh38]
Chr9:130258319 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.2134_2145del (p.Asp712_Gln715del) deletion Charcot-Marie-Tooth disease [RCV000857218] Chr9:127502857..127502868 [GRCh38]
Chr9:130265136..130265147 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_138361.5(LRSAM1):c.51C>T (p.Arg17=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172647] Chr9:127454578 [GRCh38]
Chr9:130216857 [GRCh37]
Chr9:9q33.3
likely benign
NM_138361.5(LRSAM1):c.253-9C>A single nucleotide variant Charcot-Marie-Tooth disease [RCV001174256] Chr9:127458994 [GRCh38]
Chr9:130221273 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.1037_1040del (p.Asn346fs) deletion Charcot-Marie-Tooth disease type 2P [RCV000988247] Chr9:127479970..127479973 [GRCh38]
Chr9:130242249..130242252 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.2046+16T>C single nucleotide variant Charcot-Marie-Tooth disease [RCV001174259] Chr9:127501159 [GRCh38]
Chr9:130263438 [GRCh37]
Chr9:9q34.11
likely benign
NM_138361.5(LRSAM1):c.1870C>T (p.Arg624Trp) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001234353] Chr9:127497292 [GRCh38]
Chr9:130259571 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.1757A>G (p.Tyr586Cys) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001224255] Chr9:127496022 [GRCh38]
Chr9:130258301 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.173A>G (p.Lys58Arg) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001220498] Chr9:127455619 [GRCh38]
Chr9:130217898 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.1522C>T (p.Arg508Cys) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001224461] Chr9:127492820 [GRCh38]
Chr9:130255099 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.259G>T (p.Asp87Tyr) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001217651] Chr9:127459009 [GRCh38]
Chr9:130221288 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.598A>G (p.Ile200Val) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001052602] Chr9:127467809 [GRCh38]
Chr9:130230088 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.2161_2163del (p.His721del) deletion Charcot-Marie-Tooth disease type 2P [RCV001210203] Chr9:127502886..127502888 [GRCh38]
Chr9:130265165..130265167 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_138361.5(LRSAM1):c.1430T>C (p.Leu477Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001238484] Chr9:127491222 [GRCh38]
Chr9:130253501 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.1715G>A (p.Arg572His) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001224180] Chr9:127495980 [GRCh38]
Chr9:130258259 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.1261A>G (p.Met421Val) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173646] Chr9:127487677 [GRCh38]
Chr9:130249956 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.176T>C (p.Val59Ala) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001215261] Chr9:127457317 [GRCh38]
Chr9:130219596 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.368T>C (p.Ile123Thr) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001208110] Chr9:127461219 [GRCh38]
Chr9:130223498 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.1141C>T (p.Arg381Trp) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001168523] Chr9:127483002 [GRCh38]
Chr9:130245281 [GRCh37]
Chr9:9q33.3
likely benign
NM_138361.5(LRSAM1):c.*392G>T single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001168577] Chr9:127503291 [GRCh38]
Chr9:130265570 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_138361.5(LRSAM1):c.-561C>T single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001166756] Chr9:127451556 [GRCh38]
Chr9:130213835 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.175-2A>T single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001197856] Chr9:127457314 [GRCh38]
Chr9:130219593 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.1102C>T (p.Gln368Ter) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001198443] Chr9:127482963 [GRCh38]
Chr9:130245242 [GRCh37]
Chr9:9q33.3
likely pathogenic
NM_138361.5(LRSAM1):c.119del (p.Glu40fs) deletion Charcot-Marie-Tooth disease, type I [RCV000857213] Chr9:127455044 [GRCh38]
Chr9:130217323 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.2005G>T (p.Glu669Ter) single nucleotide variant Charcot-Marie-Tooth disease [RCV000857216]|Charcot-Marie-Tooth disease type 2P [RCV001205278] Chr9:127501102 [GRCh38]
Chr9:130263381 [GRCh37]
Chr9:9q34.11
likely pathogenic|uncertain significance
NM_138361.5(LRSAM1):c.546C>T (p.Ala182=) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000866192] Chr9:127467757 [GRCh38]
Chr9:130230036 [GRCh37]
Chr9:9q33.3
likely benign
NM_138361.5(LRSAM1):c.246C>T (p.Thr82=) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001413860]|not provided [RCV000862348] Chr9:127457387 [GRCh38]
Chr9:130219666 [GRCh37]
Chr9:9q33.3
likely benign
NM_138361.5(LRSAM1):c.1573C>A (p.Arg525=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172649]|Charcot-Marie-Tooth disease type 2P [RCV001400685]|not provided [RCV000941935] Chr9:127492871 [GRCh38]
Chr9:130255150 [GRCh37]
Chr9:9q33.3
likely benign
NM_138361.5(LRSAM1):c.1599+9_1599+10del deletion Charcot-Marie-Tooth disease type 2P [RCV000928462] Chr9:127492905..127492906 [GRCh38]
Chr9:130255184..130255185 [GRCh37]
Chr9:9q33.3
likely benign
NM_138361.5(LRSAM1):c.350T>C (p.Met117Thr) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000933289] Chr9:127461201 [GRCh38]
Chr9:130223480 [GRCh37]
Chr9:9q33.3
benign
NM_138361.5(LRSAM1):c.471C>T (p.Ile157=) single nucleotide variant not provided [RCV000928737] Chr9:127462316 [GRCh38]
Chr9:130224595 [GRCh37]
Chr9:9q33.3
likely benign
NM_138361.5(LRSAM1):c.252+10C>T single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000876070] Chr9:127457403 [GRCh38]
Chr9:130219682 [GRCh37]
Chr9:9q33.3
likely benign
NM_138361.5(LRSAM1):c.1152C>T (p.Asp384=) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000863785] Chr9:127483013 [GRCh38]
Chr9:130245292 [GRCh37]
Chr9:9q33.3
likely benign
NM_138361.5(LRSAM1):c.234G>A (p.Leu78=) single nucleotide variant not provided [RCV000921792] Chr9:127457375 [GRCh38]
Chr9:130219654 [GRCh37]
Chr9:9q33.3
likely benign
NM_138361.5(LRSAM1):c.30C>T (p.Pro10=) single nucleotide variant not provided [RCV000933416] Chr9:127454557 [GRCh38]
Chr9:130216836 [GRCh37]
Chr9:9q33.3
likely benign
NM_138361.5(LRSAM1):c.109del (p.Ser37fs) deletion Charcot-Marie-Tooth disease type 2P [RCV001244512] Chr9:127455034 [GRCh38]
Chr9:130217313 [GRCh37]
Chr9:9q33.3
pathogenic
NM_138361.5(LRSAM1):c.1347+3G>T single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001067969] Chr9:127487766 [GRCh38]
Chr9:130250045 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.1333del (p.Gln445fs) deletion Charcot-Marie-Tooth disease type 2P [RCV001216800] Chr9:127487748 [GRCh38]
Chr9:130250027 [GRCh37]
Chr9:9q33.3
pathogenic
NM_138361.5(LRSAM1):c.2029_2046+7del deletion Charcot-Marie-Tooth disease type 2P [RCV001216884] Chr9:127501123..127501147 [GRCh38]
Chr9:130263402..130263426 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_138361.5(LRSAM1):c.1544T>A (p.Leu515His) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001208823] Chr9:127492842 [GRCh38]
Chr9:130255121 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.1993C>G (p.Pro665Ala) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001220288] Chr9:127501090 [GRCh38]
Chr9:130263369 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_138361.5(LRSAM1):c.792G>A (p.Met264Ile) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001240375] Chr9:127479394 [GRCh38]
Chr9:130241673 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.850C>T (p.Leu284Phe) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001224002] Chr9:127479452 [GRCh38]
Chr9:130241731 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.1912+4_1912+5delinsTC indel Charcot-Marie-Tooth disease type 2P [RCV001055588] Chr9:127497338..127497339 [GRCh38]
Chr9:130259617..130259618 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.2115C>T (p.Thr705=) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001166865] Chr9:127502842 [GRCh38]
Chr9:130265121 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_138361.5(LRSAM1):c.1753C>G (p.His585Asp) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173634] Chr9:127496018 [GRCh38]
Chr9:130258297 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.1541T>A (p.Leu514Gln) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001234918] Chr9:127492839 [GRCh38]
Chr9:130255118 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.5C>T (p.Pro2Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001234956] Chr9:127454532 [GRCh38]
Chr9:130216811 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.16C>T (p.Arg6Trp) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001225425] Chr9:127454543 [GRCh38]
Chr9:130216822 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.1043+1G>A single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001225536] Chr9:127479979 [GRCh38]
Chr9:130242258 [GRCh37]
Chr9:9q33.3
likely pathogenic
NM_138361.5(LRSAM1):c.849G>A (p.Gln283=) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV000935725] Chr9:127479451 [GRCh38]
Chr9:130241730 [GRCh37]
Chr9:9q33.3
likely benign
GRCh37/hg19 9q33.3-34.11(chr9:128512347-130702572)x1 copy number loss Early infantile epileptic encephalopathy 4 [RCV001263247] Chr9:128512347..130702572 [GRCh37]
Chr9:9q33.3-34.11
pathogenic
NM_138361.5(LRSAM1):c.2008del (p.Val670fs) deletion Charcot-Marie-Tooth disease [RCV001173630] Chr9:127501104 [GRCh38]
Chr9:130263383 [GRCh37]
Chr9:9q34.11
likely pathogenic
NM_138361.5(LRSAM1):c.904-2A>G single nucleotide variant Charcot-Marie-Tooth disease [RCV001173633] Chr9:127479837 [GRCh38]
Chr9:130242116 [GRCh37]
Chr9:9q33.3
likely pathogenic
NM_138361.5(LRSAM1):c.-35C>T single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001168474] Chr9:127452082 [GRCh38]
Chr9:130214361 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.1159+13A>T single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001168524] Chr9:127483033 [GRCh38]
Chr9:130245312 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.2134G>A (p.Asp712Asn) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001168573] Chr9:127502861 [GRCh38]
Chr9:130265140 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_138361.5(LRSAM1):c.1270A>G (p.Met424Val) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001056982] Chr9:127487686 [GRCh38]
Chr9:130249965 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.1083T>C (p.Asn361=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172645] Chr9:127481222 [GRCh38]
Chr9:130243501 [GRCh37]
Chr9:9q33.3
likely benign
NM_138361.5(LRSAM1):c.619+14G>A single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001002393] Chr9:127467844 [GRCh38]
Chr9:130230123 [GRCh37]
Chr9:9q33.3
likely benign
NM_138361.5(LRSAM1):c.750+2T>G single nucleotide variant Charcot-Marie-Tooth disease [RCV001173628] Chr9:127473933 [GRCh38]
Chr9:130236212 [GRCh37]
Chr9:9q33.3
likely pathogenic
NM_138361.5(LRSAM1):c.1936G>T (p.Val646Phe) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173636] Chr9:127501033 [GRCh38]
Chr9:130263312 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_138361.5(LRSAM1):c.1419C>A (p.Ser473Arg) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173642] Chr9:127489515 [GRCh38]
Chr9:130251794 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.1518G>A (p.Glu506=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174266] Chr9:127492816 [GRCh38]
Chr9:130255095 [GRCh37]
Chr9:9q33.3
likely benign
NM_138361.5(LRSAM1):c.2046G>A (p.Glu682=) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001215496] Chr9:127501143 [GRCh38]
Chr9:130263422 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_138361.5(LRSAM1):c.-321A>G single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001166757] Chr9:127451796 [GRCh38]
Chr9:130214075 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.1773_1774delinsAA (p.His592Asn) indel Charcot-Marie-Tooth disease type 2P [RCV001233408] Chr9:127496038..127496039 [GRCh38]
Chr9:130258317..130258318 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.21_41dup (p.Pro10_Lys16dup) duplication Charcot-Marie-Tooth disease type 2P [RCV001234799] Chr9:127454547..127454548 [GRCh38]
Chr9:130216826..130216827 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.274C>A (p.Gln92Lys) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001217652] Chr9:127459024 [GRCh38]
Chr9:130221303 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.1714C>T (p.Arg572Cys) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173641]|Charcot-Marie-Tooth disease type 2P [RCV001049097] Chr9:127495979 [GRCh38]
Chr9:130258258 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.1730T>C (p.Leu577Pro) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001220383] Chr9:127495995 [GRCh38]
Chr9:130258274 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.98T>G (p.Ile33Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001068804] Chr9:127455023 [GRCh38]
Chr9:130217302 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.*356G>A single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001168575] Chr9:127503255 [GRCh38]
Chr9:130265534 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_138361.5(LRSAM1):c.*121C>T single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001168574] Chr9:127503020 [GRCh38]
Chr9:130265299 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_138361.5(LRSAM1):c.716C>T (p.Thr239Met) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001219884] Chr9:127473897 [GRCh38]
Chr9:130236176 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.1147C>T (p.Arg383Cys) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001043272] Chr9:127483008 [GRCh38]
Chr9:130245287 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.1351G>A (p.Ala451Thr) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172640]|Charcot-Marie-Tooth disease type 2P [RCV001043406] Chr9:127489447 [GRCh38]
Chr9:130251726 [GRCh37]
Chr9:9q33.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138361.5(LRSAM1):c.1198C>T (p.Arg400Trp) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174250] Chr9:127485774 [GRCh38]
Chr9:130248053 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.992C>T (p.Thr331Met) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174253]|Charcot-Marie-Tooth disease type 2P [RCV001347455] Chr9:127479927 [GRCh38]
Chr9:130242206 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.1581A>G (p.Glu527=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174263] Chr9:127492879 [GRCh38]
Chr9:130255158 [GRCh37]
Chr9:9q33.3
likely benign
NM_138361.5(LRSAM1):c.*552A>G single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001169343] Chr9:127503451 [GRCh38]
Chr9:130265730 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_138361.5(LRSAM1):c.175-18G>T single nucleotide variant Charcot-Marie-Tooth disease [RCV001172642] Chr9:127457298 [GRCh38]
Chr9:130219577 [GRCh37]
Chr9:9q33.3
likely benign
NM_138361.5(LRSAM1):c.1044-20T>C single nucleotide variant Charcot-Marie-Tooth disease [RCV001172646] Chr9:127481163 [GRCh38]
Chr9:130243442 [GRCh37]
Chr9:9q33.3
likely benign
NM_138361.5(LRSAM1):c.1830+20A>G single nucleotide variant Charcot-Marie-Tooth disease [RCV001174269] Chr9:127496115 [GRCh38]
Chr9:130258394 [GRCh37]
Chr9:9q33.3
likely benign
NM_138361.5(LRSAM1):c.1440T>G (p.Thr480=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174271] Chr9:127491232 [GRCh38]
Chr9:130253511 [GRCh37]
Chr9:9q33.3
likely benign
NC_000009.12:g.(?_127461163)_(127473941_?)del deletion Charcot-Marie-Tooth disease type 2P [RCV001031392] Chr9:130223442..130236220 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.253G>A (p.Val85Ile) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001213205] Chr9:127459003 [GRCh38]
Chr9:130221282 [GRCh37]
Chr9:9q33.3
uncertain significance
NC_000009.12:g.(?_127502764)_(127502909_?)del deletion Charcot-Marie-Tooth disease type 2P [RCV001032480] Chr9:130265043..130265188 [GRCh37]
Chr9:9q33.3
likely pathogenic
NM_138361.5(LRSAM1):c.818G>A (p.Arg273His) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001204596] Chr9:127479420 [GRCh38]
Chr9:130241699 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.528+15G>C single nucleotide variant Charcot-Marie-Tooth disease [RCV001172648] Chr9:127462388 [GRCh38]
Chr9:130224667 [GRCh37]
Chr9:9q33.3
likely benign
NM_138361.5(LRSAM1):c.1422+42_1422+43del microsatellite Charcot-Marie-Tooth disease [RCV001172659] Chr9:127489557..127489558 [GRCh38]
Chr9:130251836..130251837 [GRCh37]
Chr9:9q33.3
benign
NM_138361.5(LRSAM1):c.1849G>T (p.Gly617Cys) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001035362] Chr9:127497271 [GRCh38]
Chr9:130259550 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.1016dup (p.Gln340fs) duplication Charcot-Marie-Tooth disease [RCV001173631] Chr9:127479950..127479951 [GRCh38]
Chr9:130242229..130242230 [GRCh37]
Chr9:9q33.3
likely pathogenic
NM_138361.5(LRSAM1):c.362G>A (p.Arg121His) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173645] Chr9:127461213 [GRCh38]
Chr9:130223492 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.1949C>T (p.Thr650Met) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001036245] Chr9:127501046 [GRCh38]
Chr9:130263325 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_138361.5(LRSAM1):c.1405C>T (p.Arg469Trp) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001070341] Chr9:127489501 [GRCh38]
Chr9:130251780 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.1698A>G (p.Gln566=) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001037600]|not provided [RCV001311022] Chr9:127495418 [GRCh38]
Chr9:130257697 [GRCh37]
Chr9:9q33.3
likely benign|uncertain significance
NM_138361.5(LRSAM1):c.-127C>A single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001168473] Chr9:127451990 [GRCh38]
Chr9:130214269 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.*370C>T single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001168576] Chr9:127503269 [GRCh38]
Chr9:130265548 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_138361.5(LRSAM1):c.1831G>A (p.Val611Met) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001039402] Chr9:127497253 [GRCh38]
Chr9:130259532 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_138361.5(LRSAM1):c.1834G>A (p.Gly612Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001166349] Chr9:127497256 [GRCh38]
Chr9:130259535 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_001005373.4(LRSAM1):c.781-2A>G single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001294140] Chr9:127479381 [GRCh38]
Chr9:130241660 [GRCh37]
Chr9:9q33.3
pathogenic
NM_001005373.4(LRSAM1):c.529-2A>G single nucleotide variant not provided [RCV001268571] Chr9:127467738 [GRCh38]
Chr9:130230017 [GRCh37]
Chr9:9q33.3
likely pathogenic
NM_001005373.4(LRSAM1):c.1355T>C (p.Met452Thr) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001300475] Chr9:127489451 [GRCh38]
Chr9:130251730 [GRCh37]
Chr9:9q33.3
uncertain significance
NC_000009.11:g.(?_130216797)_(130265188_?)dup duplication Charcot-Marie-Tooth disease type 2P [RCV001316810] Chr9:130216797..130265188 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_001005373.4(LRSAM1):c.1956_1957dup (p.Gln653fs) duplication Charcot-Marie-Tooth disease type 2P [RCV001351203] Chr9:127501048..127501049 [GRCh38]
Chr9:130263327..130263328 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_001005373.4(LRSAM1):c.1886T>G (p.Leu629Arg) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001314872] Chr9:127497308 [GRCh38]
Chr9:130259587 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_001005373.4(LRSAM1):c.2074C>G (p.His692Asp) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001294558] Chr9:127502801 [GRCh38]
Chr9:130265080 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_001005373.4(LRSAM1):c.382C>T (p.Gln128Ter) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001296574] Chr9:127461233 [GRCh38]
Chr9:130223512 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_001005373.4(LRSAM1):c.182T>C (p.Ile61Thr) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001372665] Chr9:127457323 [GRCh38]
Chr9:130219602 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_001005373.4(LRSAM1):c.684C>T (p.Ile228=) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001391767] Chr9:127473865 [GRCh38]
Chr9:130236144 [GRCh37]
Chr9:9q33.3
likely benign
NM_001005373.4(LRSAM1):c.207C>T (p.Ser69=) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001433294] Chr9:127457348 [GRCh38]
Chr9:130219627 [GRCh37]
Chr9:9q33.3
likely benign
NM_001005373.4(LRSAM1):c.435C>T (p.Thr145=) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001433960] Chr9:127462280 [GRCh38]
Chr9:130224559 [GRCh37]
Chr9:9q33.3
likely benign
NM_001005373.4(LRSAM1):c.1081A>C (p.Asn361His) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001337545] Chr9:127481220 [GRCh38]
Chr9:130243499 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_001005373.4(LRSAM1):c.2129G>A (p.Arg710His) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001373128] Chr9:127502856 [GRCh38]
Chr9:130265135 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_001005373.4(LRSAM1):c.1930G>A (p.Gly644Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001373677] Chr9:127501027 [GRCh38]
Chr9:130263306 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_001005373.4(LRSAM1):c.49C>T (p.Arg17Cys) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001364201] Chr9:127454576 [GRCh38]
Chr9:130216855 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_001005373.4(LRSAM1):c.1055G>T (p.Ser352Ile) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001339774] Chr9:127481194 [GRCh38]
Chr9:130243473 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_001005373.4(LRSAM1):c.2060T>C (p.Phe687Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001346544] Chr9:127502787 [GRCh38]
Chr9:130265066 [GRCh37]
Chr9:9q34.11
uncertain significance
NC_000009.11:g.(?_129376729)_(131016993_?)del deletion Early infantile epileptic encephalopathy with suppression bursts [RCV001383155]|Epileptic encephalopathy, early infantile, 31 [RCV001364955] Chr9:129376729..131016993 [GRCh37]
Chr9:9q33.3-34.11
pathogenic|uncertain significance
NM_001005373.4(LRSAM1):c.436G>A (p.Val146Met) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001312634] Chr9:127462281 [GRCh38]
Chr9:130224560 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_001005373.4(LRSAM1):c.951_952inv (p.Asn318Asp) inversion Charcot-Marie-Tooth disease type 2P [RCV001344856] Chr9:127479886..127479887 [GRCh38]
Chr9:130242165..130242166 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_001005373.4(LRSAM1):c.805G>A (p.Glu269Lys) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001352045] Chr9:127479407 [GRCh38]
Chr9:130241686 [GRCh37]
Chr9:9q33.3
uncertain significance
NC_000009.11:g.(?_130216797)_(130953151_?)dup duplication Congenital disorder of glycosylation type 1u [RCV001323033] Chr9:130216797..130953151 [GRCh37]
Chr9:9q33.3-34.11
uncertain significance
NM_001005373.4(LRSAM1):c.521C>T (p.Thr174Ile) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001370115] Chr9:127462366 [GRCh38]
Chr9:130224645 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_001005373.4(LRSAM1):c.22C>T (p.Arg8Trp) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001321962] Chr9:127454549 [GRCh38]
Chr9:130216828 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_001005373.4(LRSAM1):c.1567C>G (p.Gln523Glu) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001371898] Chr9:127492865 [GRCh38]
Chr9:130255144 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_001005373.4(LRSAM1):c.914G>A (p.Arg305Gln) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001298204] Chr9:127479849 [GRCh38]
Chr9:130242128 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_001005373.4(LRSAM1):c.275A>G (p.Gln92Arg) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001300550] Chr9:127459025 [GRCh38]
Chr9:130221304 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_001005373.4(LRSAM1):c.1082A>G (p.Asn361Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001370529] Chr9:127481221 [GRCh38]
Chr9:130243500 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_001005373.4(LRSAM1):c.2128C>T (p.Arg710Cys) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001322499] Chr9:127502855 [GRCh38]
Chr9:130265134 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_001005373.4(LRSAM1):c.541G>C (p.Asp181His) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001373262] Chr9:127467752 [GRCh38]
Chr9:130230031 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_001005373.4(LRSAM1):c.735G>C (p.Glu245Asp) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001360046] Chr9:127473916 [GRCh38]
Chr9:130236195 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_001005373.4(LRSAM1):c.514G>A (p.Val172Ile) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001366874] Chr9:127462359 [GRCh38]
Chr9:130224638 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_001005373.4(LRSAM1):c.323T>C (p.Val108Ala) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001340801] Chr9:127461174 [GRCh38]
Chr9:130223453 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_001005373.4(LRSAM1):c.1599G>A (p.Leu533=) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001367327] Chr9:127492897 [GRCh38]
Chr9:130255176 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_001005373.4(LRSAM1):c.823G>A (p.Glu275Lys) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001338775] Chr9:127479425 [GRCh38]
Chr9:130241704 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_001005373.4(LRSAM1):c.2046_2046+12del deletion Charcot-Marie-Tooth disease type 2P [RCV001360725] Chr9:127501143..127501155 [GRCh38]
Chr9:130263422..130263434 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_001005373.4(LRSAM1):c.620-9C>A single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001412934] Chr9:127473792 [GRCh38]
Chr9:130236071 [GRCh37]
Chr9:9q33.3
likely benign
NM_001005373.4(LRSAM1):c.1094G>A (p.Arg365Lys) single nucleotide variant not provided [RCV001357356] Chr9:127482955 [GRCh38]
Chr9:130245234 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_001005373.4(LRSAM1):c.2086T>A (p.Cys696Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001370005] Chr9:127502813 [GRCh38]
Chr9:130265092 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_001005373.4(LRSAM1):c.720C>G (p.Asp240Glu) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001339591] Chr9:127473901 [GRCh38]
Chr9:130236180 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_001005373.4(LRSAM1):c.457C>T (p.Arg153Cys) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001349590] Chr9:127462302 [GRCh38]
Chr9:130224581 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_001005373.4(LRSAM1):c.1503+8G>C single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001442302] Chr9:127491303 [GRCh38]
Chr9:130253582 [GRCh37]
Chr9:9q33.3
likely benign
NM_001005373.4(LRSAM1):c.549G>A (p.Ser183=) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001393160] Chr9:127467760 [GRCh38]
Chr9:130230039 [GRCh37]
Chr9:9q33.3
likely benign
NM_001005373.4(LRSAM1):c.602dup (p.Leu201fs) duplication Charcot-Marie-Tooth disease type 2P [RCV001390983] Chr9:127467811..127467812 [GRCh38]
Chr9:130230090..130230091 [GRCh37]
Chr9:9q33.3
pathogenic
NM_001005373.4(LRSAM1):c.1453C>T (p.Leu485=) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001439389] Chr9:127491245 [GRCh38]
Chr9:130253524 [GRCh37]
Chr9:9q33.3
likely benign
NM_001005373.4(LRSAM1):c.1773G>A (p.Ala591=) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001439833] Chr9:127496038 [GRCh38]
Chr9:130258317 [GRCh37]
Chr9:9q33.3
likely benign
NM_001005373.4(LRSAM1):c.1782C>T (p.Arg594=) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001441817] Chr9:127496047 [GRCh38]
Chr9:130258326 [GRCh37]
Chr9:9q33.3
likely benign
NM_001005373.4(LRSAM1):c.252+8G>A single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001445242] Chr9:127457401 [GRCh38]
Chr9:130219680 [GRCh37]
Chr9:9q33.3
likely benign
NM_001005373.4(LRSAM1):c.1144C>T (p.Arg382Ter) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001390596] Chr9:127483005 [GRCh38]
Chr9:130245284 [GRCh37]
Chr9:9q33.3
pathogenic
NM_001005373.4(LRSAM1):c.1119C>A (p.Thr373=) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001440155] Chr9:127482980 [GRCh38]
Chr9:130245259 [GRCh37]
Chr9:9q33.3
likely benign
NM_001005373.4(LRSAM1):c.988C>T (p.Gln330Ter) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001386892] Chr9:127479923 [GRCh38]
Chr9:130242202 [GRCh37]
Chr9:9q33.3
pathogenic
NM_001005373.4(LRSAM1):c.1266C>T (p.Ala422=) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001432328] Chr9:127487682 [GRCh38]
Chr9:130249961 [GRCh37]
Chr9:9q33.3
likely benign
NC_000009.11:g.(?_130241724_130244069del deletion Charcot-Marie-Tooth disease type 2P [RCV001378867]   likely pathogenic
NM_001005373.4(LRSAM1):c.258A>G (p.Leu86=) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001417317] Chr9:127459008 [GRCh38]
Chr9:130221287 [GRCh37]
Chr9:9q33.3
likely benign
NM_001005373.4(LRSAM1):c.1245G>A (p.Gln415=) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001423479] Chr9:127485821 [GRCh38]
Chr9:130248100 [GRCh37]
Chr9:9q33.3
likely benign
NM_001005373.4(LRSAM1):c.1701A>G (p.Glu567=) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001423509] Chr9:127495966 [GRCh38]
Chr9:130258245 [GRCh37]
Chr9:9q33.3
likely benign
NM_001005373.4(LRSAM1):c.9C>T (p.Leu3=) single nucleotide variant Charcot-Marie-Tooth disease type 2P [RCV001424277] Chr9:127454536 [GRCh38]
Chr9:130216815 [GRCh37]
Chr9:9q33.3
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25135 AgrOrtholog
COSMIC LRSAM1 COSMIC
Ensembl Genes ENSG00000148356 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000300417 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000322937 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000362419 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000362421 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000501555 UniProtKB/TrEMBL
  ENSP00000501592 UniProtKB/Swiss-Prot
  ENSP00000501598 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000501637 UniProtKB/TrEMBL
  ENSP00000501709 UniProtKB/TrEMBL
  ENSP00000501763 UniProtKB/TrEMBL
  ENSP00000501835 UniProtKB/TrEMBL
  ENSP00000501837 UniProtKB/TrEMBL
  ENSP00000501845 UniProtKB/TrEMBL
  ENSP00000501847 UniProtKB/TrEMBL
  ENSP00000501869 UniProtKB/TrEMBL
  ENSP00000501954 UniProtKB/TrEMBL
  ENSP00000502002 UniProtKB/TrEMBL
  ENSP00000502053 UniProtKB/TrEMBL
  ENSP00000502058 UniProtKB/TrEMBL
  ENSP00000502102 UniProtKB/TrEMBL
  ENSP00000502155 UniProtKB/TrEMBL
  ENSP00000502167 UniProtKB/Swiss-Prot
  ENSP00000502177 UniProtKB/TrEMBL
  ENSP00000502218 UniProtKB/TrEMBL
  ENSP00000502253 UniProtKB/TrEMBL
  ENSP00000502258 UniProtKB/TrEMBL
  ENSP00000502300 UniProtKB/TrEMBL
  ENSP00000502393 UniProtKB/TrEMBL
  ENSP00000502420 UniProtKB/TrEMBL
  ENSP00000502441 UniProtKB/TrEMBL
  ENSP00000502443 UniProtKB/TrEMBL
  ENSP00000502473 UniProtKB/TrEMBL
  ENSP00000502493 UniProtKB/TrEMBL
  ENSP00000502557 UniProtKB/TrEMBL
  ENSP00000502599 UniProtKB/TrEMBL
  ENSP00000502621 UniProtKB/TrEMBL
  ENSP00000502627 UniProtKB/TrEMBL
  ENSP00000502686 UniProtKB/TrEMBL
Ensembl Transcript ENST00000300417 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000323301 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000373322 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000373324 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000472068 UniProtKB/TrEMBL
  ENST00000498513 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000674511 UniProtKB/TrEMBL
  ENST00000674516 UniProtKB/TrEMBL
  ENST00000674621 UniProtKB/TrEMBL
  ENST00000674771 UniProtKB/TrEMBL
  ENST00000674784 UniProtKB/TrEMBL
  ENST00000674970 UniProtKB/TrEMBL
  ENST00000675012 UniProtKB/TrEMBL
  ENST00000675141 UniProtKB/TrEMBL
  ENST00000675198 UniProtKB/TrEMBL
  ENST00000675213 UniProtKB/TrEMBL
  ENST00000675224 UniProtKB/TrEMBL
  ENST00000675253 UniProtKB/TrEMBL
  ENST00000675445 UniProtKB/TrEMBL
  ENST00000675448 UniProtKB/Swiss-Prot
  ENST00000675521 UniProtKB/TrEMBL
  ENST00000675572 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000675641 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000675657 UniProtKB/TrEMBL
  ENST00000675662 UniProtKB/TrEMBL
  ENST00000675789 UniProtKB/TrEMBL
  ENST00000675883 UniProtKB/Swiss-Prot
  ENST00000675945 UniProtKB/TrEMBL
  ENST00000676014 UniProtKB/TrEMBL
  ENST00000676035 UniProtKB/TrEMBL
  ENST00000676106 UniProtKB/TrEMBL
  ENST00000676137 UniProtKB/TrEMBL
  ENST00000676170 UniProtKB/TrEMBL
  ENST00000676318 UniProtKB/TrEMBL
  ENST00000676336 UniProtKB/TrEMBL
  ENST00000676349 UniProtKB/TrEMBL
  ENST00000676399 UniProtKB/TrEMBL
  ENST00000676409 UniProtKB/TrEMBL
Gene3D-CATH 1.10.150.50 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.80.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000148356 GTEx
HGNC ID HGNC:25135 ENTREZGENE
Human Proteome Map LRSAM1 Human Proteome Map
InterPro Leu-rich_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Leu-rich_rpt_typical-subtyp UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRR_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM/pointed_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_RING UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_RING/FYVE/PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:90678 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 90678 ENTREZGENE
OMIM 610933 OMIM
  614436 OMIM
Pfam LRR_8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134890010 PharmGKB
PROSITE LRR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM_DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_RING_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART LRR_TYP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47769 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R870 ENTREZGENE, UniProtKB/TrEMBL
  A0A6Q8PEU7_HUMAN UniProtKB/TrEMBL
  A0A6Q8PF55_HUMAN UniProtKB/TrEMBL
  A0A6Q8PFA4_HUMAN UniProtKB/TrEMBL
  A0A6Q8PFD4_HUMAN UniProtKB/TrEMBL
  A0A6Q8PFI6_HUMAN UniProtKB/TrEMBL
  A0A6Q8PFL1_HUMAN UniProtKB/TrEMBL
  A0A6Q8PFL5_HUMAN UniProtKB/TrEMBL
  A0A6Q8PFT9_HUMAN UniProtKB/TrEMBL
  A0A6Q8PFW1_HUMAN UniProtKB/TrEMBL
  A0A6Q8PG02_HUMAN UniProtKB/TrEMBL
  A0A6Q8PG22_HUMAN UniProtKB/TrEMBL
  A0A6Q8PG90_HUMAN UniProtKB/TrEMBL
  A0A6Q8PGB2_HUMAN UniProtKB/TrEMBL
  A0A6Q8PGF7_HUMAN UniProtKB/TrEMBL
  A0A6Q8PGH6_HUMAN UniProtKB/TrEMBL
  A0A6Q8PGH9_HUMAN UniProtKB/TrEMBL
  A0A6Q8PGT0_HUMAN UniProtKB/TrEMBL
  A0A6Q8PGT8_HUMAN UniProtKB/TrEMBL
  A0A6Q8PGW1_HUMAN UniProtKB/TrEMBL
  A0A6Q8PGY0_HUMAN UniProtKB/TrEMBL
  A0A6Q8PGZ2_HUMAN UniProtKB/TrEMBL
  A0A6Q8PH15_HUMAN UniProtKB/TrEMBL
  A0A6Q8PH67_HUMAN UniProtKB/TrEMBL
  A0A6Q8PH70_HUMAN UniProtKB/TrEMBL
  A0A6Q8PH85_HUMAN UniProtKB/TrEMBL
  A0A6Q8PHH6_HUMAN UniProtKB/TrEMBL
  LRSM1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q5VVV0 UniProtKB/Swiss-Prot
  Q8NB40 UniProtKB/Swiss-Prot
  Q96GT5 UniProtKB/Swiss-Prot
  Q96MX5 UniProtKB/Swiss-Prot
  Q96MZ7 UniProtKB/Swiss-Prot