GDAP1 (ganglioside induced differentiation associated protein 1) - Rat Genome Database
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Gene: GDAP1 (ganglioside induced differentiation associated protein 1) Homo sapiens
Analyze
Symbol: GDAP1
Name: ganglioside induced differentiation associated protein 1
RGD ID: 1319106
HGNC Page HGNC
Description: Involved in mitochondrial fission; mitochondrial fusion; and protein targeting to mitochondrion. Localizes to cytosol and integral component of mitochondrial outer membrane. Implicated in Charcot-Marie-Tooth disease; Charcot-Marie-Tooth disease axonal type 2C; Charcot-Marie-Tooth disease axonal type 2K; Charcot-Marie-Tooth disease recessive intermediate A; and Charcot-Marie-Tooth disease type 4A.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: Charcot-Marie-Tooth neuropathy 4A; CMT4; CMT4A; CMTRIA; ganglioside differentiation associated protein 1; ganglioside-induced differentiation-associated protein 1; truncated ganglioside differentiation associated protein 1
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 Ensembl874,321,130 - 74,488,872 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl874,320,613 - 74,518,007 (+)EnsemblGRCh38hg38GRCh38
GRCh38874,350,403 - 74,488,872 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37875,262,618 - 75,279,345 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh37875,262,638 - 75,401,107 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36875,425,173 - 75,441,900 (+)NCBINCBI36hg18NCBI36
Build 34875,425,251 - 75,439,157NCBI
Celera871,260,475 - 71,277,203 (+)NCBI
Cytogenetic Map8q21.11NCBI
HuRef870,753,599 - 70,770,326 (+)NCBIHuRef
CHM1_1875,314,604 - 75,331,330 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:54332   PMID:8268915   PMID:10217254   PMID:10737800   PMID:11337467   PMID:11592034   PMID:12477932   PMID:12566285   PMID:12601710   PMID:12707075   PMID:12868504   PMID:14561495  
PMID:15019704   PMID:15342556   PMID:15489334   PMID:15772096   PMID:15805163   PMID:16343542   PMID:16607474   PMID:16857173   PMID:17433678   PMID:17903300   PMID:18062449   PMID:18231710  
PMID:18421898   PMID:18464913   PMID:18504680   PMID:18991200   PMID:19089472   PMID:19340293   PMID:19381883   PMID:19500985   PMID:19720140   PMID:19782751   PMID:19837996   PMID:19946888  
PMID:20301462   PMID:20301532   PMID:20301641   PMID:20301711   PMID:20685671   PMID:20849849   PMID:21199105   PMID:21630459   PMID:21692914   PMID:21753178   PMID:21873635   PMID:21890626  
PMID:21965300   PMID:22546700   PMID:22658674   PMID:22939629   PMID:22971097   PMID:23147504   PMID:23456260   PMID:23542510   PMID:23628762   PMID:24457600   PMID:25168384   PMID:25337607  
PMID:25429913   PMID:25921289   PMID:26496610   PMID:26525999   PMID:27128683   PMID:27432908   PMID:27841286   PMID:28236508   PMID:28244113   PMID:28380382   PMID:28514442   PMID:28751717  
PMID:29117863   PMID:29372391   PMID:29396836   PMID:29509190   PMID:29694336   PMID:30585266   PMID:30692068   PMID:30804591   PMID:31179332   PMID:31852984   PMID:32183277   PMID:32274853  
PMID:32296183   PMID:32457219   PMID:32814053   PMID:33179230  


Genomics

Comparative Map Data
GDAP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl874,321,130 - 74,488,872 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl874,320,613 - 74,518,007 (+)EnsemblGRCh38hg38GRCh38
GRCh38874,350,403 - 74,488,872 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37875,262,618 - 75,279,345 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh37875,262,638 - 75,401,107 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36875,425,173 - 75,441,900 (+)NCBINCBI36hg18NCBI36
Build 34875,425,251 - 75,439,157NCBI
Celera871,260,475 - 71,277,203 (+)NCBI
Cytogenetic Map8q21.11NCBI
HuRef870,753,599 - 70,770,326 (+)NCBIHuRef
CHM1_1875,314,604 - 75,331,330 (+)NCBICHM1_1
Gdap1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39117,202,028 - 17,234,495 (+)NCBIGRCm39mm39
GRCm38117,145,373 - 17,164,271 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl117,145,362 - 17,164,271 (+)EnsemblGRCm38mm10GRCm38
MGSCv37117,135,454 - 17,154,352 (+)NCBIGRCm37mm9NCBIm37
MGSCv36117,130,611 - 17,149,485 (+)NCBImm8
Celera117,069,144 - 17,087,736 (+)NCBICelera
Cytogenetic Map1A3NCBI
Gdap1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.251,932,613 - 1,951,691 (-)NCBI
Rnor_6.0 Ensembl51,328,913 - 1,347,921 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.051,328,963 - 1,347,946 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.051,323,590 - 1,342,573 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.451,006,203 - 1,025,281 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.151,008,936 - 1,025,382 (-)NCBI
Celera51,574,343 - 1,593,421 (-)NCBICelera
Cytogenetic Map5q11NCBI
Gdap1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554446,051,301 - 6,069,765 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554446,053,422 - 6,069,741 (-)NCBIChiLan1.0ChiLan1.0
GDAP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1872,528,869 - 72,545,354 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl872,528,869 - 72,545,346 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0870,854,665 - 70,900,532 (+)NCBIMhudiblu_PPA_v0panPan3
GDAP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl2922,804,965 - 22,833,069 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.12922,805,468 - 22,835,909 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Gdap1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049366482,981,802 - 2,999,161 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GDAP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl461,577,416 - 61,596,303 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1461,577,413 - 61,596,106 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2467,190,455 - 67,209,140 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GDAP1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1869,948,800 - 69,965,168 (+)NCBI
ChlSab1.1 Ensembl869,949,052 - 69,966,421 (+)Ensembl
Gdap1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474416,859,946 - 16,878,723 (-)NCBI

Position Markers
A004Y31  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37875,277,862 - 75,277,995UniSTSGRCh37
Build 36875,440,417 - 75,440,550RGDNCBI36
Celera871,275,720 - 71,275,853RGD
Cytogenetic Map8q21.11UniSTS
HuRef870,768,843 - 70,768,976UniSTS
GeneMap99-GB4 RH Map8391.19UniSTS
Whitehead-RH Map8459.4UniSTS
NCBI RH Map8852.9UniSTS
RH91794  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37875,278,909 - 75,279,029UniSTSGRCh37
Build 36875,441,464 - 75,441,584RGDNCBI36
Celera871,276,767 - 71,276,887RGD
Cytogenetic Map8q21.11UniSTS
HuRef870,769,890 - 70,770,010UniSTS
GeneMap99-GB4 RH Map8389.97UniSTS
GDAP1_9778  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37875,276,247 - 75,276,785UniSTSGRCh37
Build 36875,438,802 - 75,439,340RGDNCBI36
Celera871,274,105 - 71,274,643RGD
HuRef870,767,228 - 70,767,766UniSTS
RH18434  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37875,277,522 - 75,277,621UniSTSGRCh37
Build 36875,440,077 - 75,440,176RGDNCBI36
Celera871,275,380 - 71,275,479RGD
Cytogenetic Map8q21.11UniSTS
HuRef870,768,503 - 70,768,602UniSTS
GeneMap99-GB4 RH Map8389.97UniSTS
NCBI RH Map8849.7UniSTS
RH12692  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37875,277,791 - 75,277,936UniSTSGRCh37
Build 36875,440,346 - 75,440,491RGDNCBI36
Celera871,275,649 - 71,275,794RGD
Cytogenetic Map8q21.11UniSTS
HuRef870,768,772 - 70,768,917UniSTS
GeneMap99-GB4 RH Map8386.93UniSTS
NCBI RH Map8846.8UniSTS
MARC_17537-17538:1017261090:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37875,272,460 - 75,274,176UniSTSGRCh37
Build 36875,435,015 - 75,436,731RGDNCBI36
Celera871,270,317 - 71,272,033RGD
HuRef870,763,440 - 70,765,156UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR26A1hsa-miR-26a-5pMirtarbaseexternal_infoImmunofluorescence//In situ hybridization//LuciferFunctional MTI20827281
MIR200Ahsa-miR-200a-3pMirtarbaseexternal_infoImmunofluorescence//In situ hybridization//LuciferFunctional MTI20827281
MIR26A2hsa-miR-26a-5pMirtarbaseexternal_infoImmunofluorescence//In situ hybridization//LuciferFunctional MTI20827281
MIR203Ahsa-miR-203aMirtarbaseexternal_infoImmunofluorescence//In situ hybridization//LuciferFunctional MTI20827281

Predicted Target Of
Summary Value
Count of predictions:1943
Count of miRNA genes:918
Interacting mature miRNAs:1077
Transcripts:ENST00000220822, ENST00000434412, ENST00000520797, ENST00000521096, ENST00000522568, ENST00000523640, ENST00000524195, ENST00000524366
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 87 9 642 27 410 29 764 48 3305 82 463 517 7 7 501
Low 2343 2470 1057 570 1132 409 3582 2039 426 334 982 1090 166 1 1197 2279 3 1
Below cutoff 5 507 26 25 407 26 9 108 3 3 11 6 2 8 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001040875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001362929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001362930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001362931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001362932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_018972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB551556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB551557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB551558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC102802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC103952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL110252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU100305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW016619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW274431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW845711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC024939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG291928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP308343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB178744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB442768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB505741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF495668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF495772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF495777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y17849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000220822   ⟹   ENSP00000220822
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl874,350,403 - 74,366,876 (+)Ensembl
RefSeq Acc Id: ENST00000434412   ⟹   ENSP00000417006
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl874,350,418 - 74,364,604 (+)Ensembl
RefSeq Acc Id: ENST00000520797
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl874,321,514 - 74,364,260 (+)Ensembl
RefSeq Acc Id: ENST00000521096
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl874,321,130 - 74,364,290 (+)Ensembl
RefSeq Acc Id: ENST00000522568   ⟹   ENSP00000430136
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl874,350,444 - 74,364,741 (+)Ensembl
RefSeq Acc Id: ENST00000523640
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl874,350,434 - 74,360,248 (+)Ensembl
RefSeq Acc Id: ENST00000524195
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl874,362,951 - 74,488,872 (+)Ensembl
RefSeq Acc Id: ENST00000524366
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl874,350,444 - 74,364,029 (+)Ensembl
RefSeq Acc Id: ENST00000674612   ⟹   ENSP00000501864
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl874,321,440 - 74,366,821 (+)Ensembl
RefSeq Acc Id: ENST00000674710   ⟹   ENSP00000502762
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl874,350,400 - 74,494,697 (+)Ensembl
RefSeq Acc Id: ENST00000674754   ⟹   ENSP00000502063
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl874,350,395 - 74,366,582 (+)Ensembl
RefSeq Acc Id: ENST00000674756   ⟹   ENSP00000501860
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl874,350,434 - 74,504,745 (+)Ensembl
RefSeq Acc Id: ENST00000674806   ⟹   ENSP00000502637
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl874,350,108 - 74,366,852 (+)Ensembl
RefSeq Acc Id: ENST00000674865   ⟹   ENSP00000502437
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl874,350,418 - 74,368,060 (+)Ensembl
RefSeq Acc Id: ENST00000674926   ⟹   ENSP00000501799
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl874,350,396 - 74,366,865 (+)Ensembl
RefSeq Acc Id: ENST00000674934   ⟹   ENSP00000502187
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl874,350,396 - 74,366,062 (+)Ensembl
RefSeq Acc Id: ENST00000674944   ⟹   ENSP00000501858
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl874,350,403 - 74,366,582 (+)Ensembl
RefSeq Acc Id: ENST00000674946   ⟹   ENSP00000501569
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl874,350,444 - 74,504,344 (+)Ensembl
RefSeq Acc Id: ENST00000674973   ⟹   ENSP00000502447
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl874,350,403 - 74,366,863 (+)Ensembl
RefSeq Acc Id: ENST00000675007   ⟹   ENSP00000502119
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl874,350,444 - 74,366,863 (+)Ensembl
RefSeq Acc Id: ENST00000675060   ⟹   ENSP00000501616
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl874,350,403 - 74,365,676 (+)Ensembl
RefSeq Acc Id: ENST00000675165   ⟹   ENSP00000502612
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl874,350,403 - 74,366,850 (+)Ensembl
RefSeq Acc Id: ENST00000675220   ⟹   ENSP00000502588
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl874,321,080 - 74,366,841 (+)Ensembl
RefSeq Acc Id: ENST00000675265   ⟹   ENSP00000501848
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl874,350,454 - 74,366,833 (+)Ensembl
RefSeq Acc Id: ENST00000675336   ⟹   ENSP00000502120
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl874,350,403 - 74,366,823 (+)Ensembl
RefSeq Acc Id: ENST00000675376   ⟹   ENSP00000502838
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl874,339,571 - 74,366,876 (+)Ensembl
RefSeq Acc Id: ENST00000675460
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl874,496,409 - 74,518,007 (+)Ensembl
RefSeq Acc Id: ENST00000675463   ⟹   ENSP00000502327
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl874,350,409 - 74,366,840 (+)Ensembl
RefSeq Acc Id: ENST00000675472   ⟹   ENSP00000501946
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl874,350,409 - 74,366,821 (+)Ensembl
RefSeq Acc Id: ENST00000675474
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl874,362,841 - 74,365,767 (+)Ensembl
RefSeq Acc Id: ENST00000675560   ⟹   ENSP00000502118
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl874,350,403 - 74,504,674 (+)Ensembl
RefSeq Acc Id: ENST00000675565
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl874,351,340 - 74,362,780 (+)Ensembl
RefSeq Acc Id: ENST00000675625   ⟹   ENSP00000501626
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl874,350,395 - 74,366,868 (+)Ensembl
RefSeq Acc Id: ENST00000675633   ⟹   ENSP00000501785
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl874,350,403 - 74,366,841 (+)Ensembl
RefSeq Acc Id: ENST00000675661   ⟹   ENSP00000501958
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl874,350,444 - 74,366,833 (+)Ensembl
RefSeq Acc Id: ENST00000675706
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl874,350,395 - 74,366,816 (+)Ensembl
RefSeq Acc Id: ENST00000675821   ⟹   ENSP00000502198
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl874,320,613 - 74,366,857 (+)Ensembl
RefSeq Acc Id: ENST00000675832   ⟹   ENSP00000502041
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl874,350,403 - 74,366,819 (+)Ensembl
RefSeq Acc Id: ENST00000675928   ⟹   ENSP00000501568
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl874,350,395 - 74,365,775 (+)Ensembl
RefSeq Acc Id: ENST00000675944   ⟹   ENSP00000502673
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl874,350,114 - 74,366,863 (+)Ensembl
RefSeq Acc Id: ENST00000675999   ⟹   ENSP00000502572
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl874,350,403 - 74,439,798 (+)Ensembl
RefSeq Acc Id: ENST00000676049   ⟹   ENSP00000501912
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl874,350,434 - 74,366,833 (+)Ensembl
RefSeq Acc Id: ENST00000676112   ⟹   ENSP00000502295
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl874,350,396 - 74,366,855 (+)Ensembl
RefSeq Acc Id: ENST00000676120   ⟹   ENSP00000502036
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl874,350,446 - 74,362,777 (+)Ensembl
RefSeq Acc Id: ENST00000676143   ⟹   ENSP00000502828
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl874,321,694 - 74,366,876 (+)Ensembl
RefSeq Acc Id: ENST00000676207   ⟹   ENSP00000502638
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl874,350,413 - 74,488,879 (+)Ensembl
RefSeq Acc Id: ENST00000676354
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl874,321,505 - 74,324,224 (+)Ensembl
RefSeq Acc Id: ENST00000676377   ⟹   ENSP00000502756
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl874,320,832 - 74,366,851 (+)Ensembl
RefSeq Acc Id: ENST00000676415   ⟹   ENSP00000502665
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl874,350,444 - 74,366,727 (+)Ensembl
RefSeq Acc Id: ENST00000676443   ⟹   ENSP00000501769
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl874,350,395 - 74,366,816 (+)Ensembl
RefSeq Acc Id: NM_001040875   ⟹   NP_001035808
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38874,350,403 - 74,366,876 (+)NCBI
GRCh37875,262,618 - 75,279,345 (+)ENTREZGENE
Build 36875,425,208 - 75,441,900 (+)NCBI Archive
HuRef870,753,599 - 70,770,326 (+)ENTREZGENE
CHM1_1875,314,604 - 75,331,330 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001362929   ⟹   NP_001349858
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38874,350,403 - 74,366,876 (+)NCBI
RefSeq Acc Id: NM_001362930   ⟹   NP_001349859
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38874,350,403 - 74,366,876 (+)NCBI
RefSeq Acc Id: NM_001362931   ⟹   NP_001349860
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38874,350,403 - 74,488,872 (+)NCBI
RefSeq Acc Id: NM_001362932   ⟹   NP_001349861
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38874,350,403 - 74,366,876 (+)NCBI
RefSeq Acc Id: NM_018972   ⟹   NP_061845
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38874,350,403 - 74,366,876 (+)NCBI
GRCh37875,262,618 - 75,279,345 (+)NCBI
Build 36875,425,173 - 75,441,900 (+)NCBI Archive
HuRef870,753,599 - 70,770,326 (+)ENTREZGENE
CHM1_1875,314,604 - 75,331,330 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013586   ⟹   XP_016869075
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38874,350,444 - 74,362,932 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_061845   ⟸   NM_018972
- Peptide Label: isoform a
- UniProtKB: Q8TB36 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001035808   ⟸   NM_001040875
- Peptide Label: isoform b
- UniProtKB: Q8TB36 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016869075   ⟸   XM_017013586
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: NP_001349859   ⟸   NM_001362930
- Peptide Label: isoform d
RefSeq Acc Id: NP_001349858   ⟸   NM_001362929
- Peptide Label: isoform c
RefSeq Acc Id: NP_001349861   ⟸   NM_001362932
- Peptide Label: isoform c
RefSeq Acc Id: NP_001349860   ⟸   NM_001362931
- Peptide Label: isoform e
RefSeq Acc Id: ENSP00000430136   ⟸   ENST00000522568
RefSeq Acc Id: ENSP00000220822   ⟸   ENST00000220822
RefSeq Acc Id: ENSP00000417006   ⟸   ENST00000434412
RefSeq Acc Id: ENSP00000501799   ⟸   ENST00000674926
RefSeq Acc Id: ENSP00000502447   ⟸   ENST00000674973
RefSeq Acc Id: ENSP00000501858   ⟸   ENST00000674944
RefSeq Acc Id: ENSP00000501569   ⟸   ENST00000674946
RefSeq Acc Id: ENSP00000502187   ⟸   ENST00000674934
RefSeq Acc Id: ENSP00000502637   ⟸   ENST00000674806
RefSeq Acc Id: ENSP00000502437   ⟸   ENST00000674865
RefSeq Acc Id: ENSP00000502063   ⟸   ENST00000674754
RefSeq Acc Id: ENSP00000501860   ⟸   ENST00000674756
RefSeq Acc Id: ENSP00000502762   ⟸   ENST00000674710
RefSeq Acc Id: ENSP00000501864   ⟸   ENST00000674612
RefSeq Acc Id: ENSP00000502041   ⟸   ENST00000675832
RefSeq Acc Id: ENSP00000502198   ⟸   ENST00000675821
RefSeq Acc Id: ENSP00000501958   ⟸   ENST00000675661
RefSeq Acc Id: ENSP00000501785   ⟸   ENST00000675633
RefSeq Acc Id: ENSP00000501626   ⟸   ENST00000675625
RefSeq Acc Id: ENSP00000502118   ⟸   ENST00000675560
RefSeq Acc Id: ENSP00000501946   ⟸   ENST00000675472
RefSeq Acc Id: ENSP00000502327   ⟸   ENST00000675463
RefSeq Acc Id: ENSP00000502572   ⟸   ENST00000675999
RefSeq Acc Id: ENSP00000502673   ⟸   ENST00000675944
RefSeq Acc Id: ENSP00000501568   ⟸   ENST00000675928
RefSeq Acc Id: ENSP00000502120   ⟸   ENST00000675336
RefSeq Acc Id: ENSP00000502838   ⟸   ENST00000675376
RefSeq Acc Id: ENSP00000501848   ⟸   ENST00000675265
RefSeq Acc Id: ENSP00000502588   ⟸   ENST00000675220
RefSeq Acc Id: ENSP00000502612   ⟸   ENST00000675165
RefSeq Acc Id: ENSP00000501616   ⟸   ENST00000675060
RefSeq Acc Id: ENSP00000502119   ⟸   ENST00000675007
RefSeq Acc Id: ENSP00000502638   ⟸   ENST00000676207
RefSeq Acc Id: ENSP00000502036   ⟸   ENST00000676120
RefSeq Acc Id: ENSP00000502295   ⟸   ENST00000676112
RefSeq Acc Id: ENSP00000502828   ⟸   ENST00000676143
RefSeq Acc Id: ENSP00000501912   ⟸   ENST00000676049
RefSeq Acc Id: ENSP00000502665   ⟸   ENST00000676415
RefSeq Acc Id: ENSP00000501769   ⟸   ENST00000676443
RefSeq Acc Id: ENSP00000502756   ⟸   ENST00000676377
Protein Domains
GST C-terminal   GST N-terminal

Promoters
RGD ID:7213563
Promoter ID:EPDNEW_H12527
Type:initiation region
Name:GDAP1_1
Description:ganglioside induced differentiation associated protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12525  EPDNEW_H12526  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38874,350,446 - 74,350,506EPDNEW
RGD ID:6806773
Promoter ID:HG_KWN:61541
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001040875,   NM_018972
Position:
Human AssemblyChrPosition (strand)Source
Build 36875,425,069 - 75,425,569 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_018972.4(GDAP1):c.106A>C (p.Ser36Arg) single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV000543493] Chr8:74350567 [GRCh38]
Chr8:75262802 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.5C>G (p.Ala2Gly) single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV000548872] Chr8:74350466 [GRCh38]
Chr8:75262701 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.862dup (p.Thr288fs) duplication Neuropathy, axonal, with vocal cord paresis, autosomal recessive [RCV000004414] Chr8:74364147..74364148 [GRCh38]
Chr8:75276382..75276383 [GRCh37]
Chr8:8q21.11
pathogenic
GDAP1, 1-BP INS, 349T insertion Charcot-Marie-Tooth disease, recessive intermediate A [RCV000004416] Chr8:8q13-q21.1 pathogenic
GDAP1, IVS4DS, G-A, +1 single nucleotide variant Charcot-Marie-Tooth disease, recessive intermediate A [RCV000004417] Chr8:8q13-q21.1 pathogenic
NM_018972.4(GDAP1):c.338A>G (p.Lys113Arg) single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV000547233] Chr8:74360164 [GRCh38]
Chr8:75272399 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.754G>A (p.Ala252Thr) single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV000526351] Chr8:74364044 [GRCh38]
Chr8:75276279 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.72T>C (p.Val24=) single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV000548062] Chr8:74350533 [GRCh38]
Chr8:75262768 [GRCh37]
Chr8:8q21.11
likely benign
NM_018972.4(GDAP1):c.385G>A (p.Asp129Asn) single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV000545921] Chr8:74360211 [GRCh38]
Chr8:75272446 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.929G>A (p.Arg310Gln) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789782]|not provided [RCV000519479] Chr8:74364219 [GRCh38]
Chr8:75276454 [GRCh37]
Chr8:8q21.11
pathogenic|uncertain significance
NM_018972.4(GDAP1):c.703C>T (p.Gln235Ter) single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV000542442] Chr8:74363993 [GRCh38]
Chr8:75276228 [GRCh37]
Chr8:8q21.11
pathogenic
NM_018972.4(GDAP1):c.92G>A (p.Trp31Ter) single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV000004409] Chr8:74350553 [GRCh38]
Chr8:75262788 [GRCh37]
Chr8:8q21.11
pathogenic
NM_018972.4(GDAP1):c.581C>G (p.Ser194Ter) single nucleotide variant Charcot-Marie-Tooth disease type 2K [RCV000004411]|Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV000023562]|Charcot-Marie-Tooth disease, type 4A [RCV000004410]|not provided [RCV000760312] Chr8:74362940 [GRCh38]
Chr8:75275175 [GRCh37]
Chr8:8q21.11
pathogenic
NM_018972.4(GDAP1):c.482G>A (p.Arg161His) single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV000004412]|not provided [RCV001200307] Chr8:74360308 [GRCh38]
Chr8:75272543 [GRCh37]
Chr8:8q21.11
pathogenic
NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter) single nucleotide variant Charcot-Marie-Tooth disease [RCV000857207]|Charcot-Marie-Tooth disease type 2K [RCV000763605]|Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV000031963]|Charcot-Marie-Tooth disease, type 4A [RCV000204463]|Neuropathy, axonal, with vocal cord paresis, autosomal recessive [RCV000004413]|not provided [RCV000236485] Chr8:74361886 [GRCh38]
Chr8:75274121 [GRCh37]
Chr8:8q21.11
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_018972.4(GDAP1):c.844C>T (p.Arg282Cys) single nucleotide variant Charcot-Marie-Tooth disease, recessive intermediate A [RCV000004415]|Charcot-Marie-Tooth disease, type 4A [RCV001235354]|not provided [RCV000235864] Chr8:74364134 [GRCh38]
Chr8:75276369 [GRCh37]
Chr8:8q21.11
pathogenic
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp) single nucleotide variant Charcot-Marie-Tooth disease [RCV000192249]|Charcot-Marie-Tooth disease type 2K [RCV000004418]|Charcot-Marie-Tooth disease type 2K [RCV001225306]|Charcot-Marie-Tooth disease, type 4A [RCV000200521]|not provided [RCV000236074] Chr8:74360184 [GRCh38]
Chr8:75272419 [GRCh37]
Chr8:8q21.11
pathogenic|likely pathogenic
NM_018972.4(GDAP1):c.469A>C (p.Thr157Pro) single nucleotide variant Charcot-Marie-Tooth disease type 2K [RCV000004419]|Charcot-Marie-Tooth disease, type 4A [RCV000798174] Chr8:74360295 [GRCh38]
Chr8:75272530 [GRCh37]
Chr8:8q21.11
pathogenic
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789780]|Charcot-Marie-Tooth disease type 2K [RCV000033147]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV000004420]|Charcot-Marie-Tooth disease, type 4A [RCV000034153]|Elevated serum creatine phosphokinase [RCV000414821]|GDAP1-Related Disorders [RCV000779562]|not provided [RCV000439841] Chr8:74364005 [GRCh38]
Chr8:75276240 [GRCh37]
Chr8:8q21.11
pathogenic|likely pathogenic|uncertain significance
NM_018972.4(GDAP1):c.652C>G (p.Gln218Glu) single nucleotide variant Charcot-Marie-Tooth disease type 2K [RCV000004421] Chr8:74363011 [GRCh38]
Chr8:75275246 [GRCh37]
Chr8:8q21.11
pathogenic
NM_018972.4(GDAP1):c.692C>T (p.Pro231Leu) single nucleotide variant Charcot-Marie-Tooth disease [RCV000857208]|Charcot-Marie-Tooth disease type 2K [RCV000004422]|Charcot-Marie-Tooth disease, type 4A [RCV000703370]|not provided [RCV000214299] Chr8:74363051 [GRCh38]
Chr8:75275286 [GRCh37]
Chr8:8q21.11
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_018972.4(GDAP1):c.719G>A (p.Cys240Tyr) single nucleotide variant Charcot-Marie-Tooth disease type 2K [RCV000004423] Chr8:74364009 [GRCh38]
Chr8:75276244 [GRCh37]
Chr8:8q21.11
pathogenic
NM_018972.4(GDAP1):c.678A>T (p.Arg226Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2K [RCV000004424] Chr8:74363037 [GRCh38]
Chr8:75275272 [GRCh37]
Chr8:8q21.11
pathogenic
NM_018972.4(GDAP1):c.467C>G (p.Ala156Gly) single nucleotide variant Charcot-Marie-Tooth disease type 2K [RCV000043548] Chr8:74360293 [GRCh38]
Chr8:75272528 [GRCh37]
Chr8:8q21.11
pathogenic
NM_018972.4(GDAP1):c.368A>G (p.His123Arg) single nucleotide variant Charcot-Marie-Tooth disease [RCV000857206]|Charcot-Marie-Tooth disease type 2K [RCV000043549]|Charcot-Marie-Tooth disease, type 4A [RCV000696667]|not provided [RCV000254797] Chr8:74360194 [GRCh38]
Chr8:75272429 [GRCh37]
Chr8:8q21.11
pathogenic|likely pathogenic|uncertain significance
NM_018972.4(GDAP1):c.821C>T (p.Pro274Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2K [RCV000043550] Chr8:74364111 [GRCh38]
Chr8:75276346 [GRCh37]
Chr8:8q21.11
pathogenic
NM_018972.4(GDAP1):c.347T>G (p.Met116Arg) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789791]|Charcot-Marie-Tooth disease, type 4A [RCV000031962]|not provided [RCV001092877] Chr8:74360173 [GRCh38]
Chr8:75272408 [GRCh37]
Chr8:8q21.11
pathogenic|uncertain significance
NM_018972.4(GDAP1):c.980G>A (p.Gly327Asp) single nucleotide variant Charcot-Marie-Tooth disease, recessive intermediate A [RCV000033148]|Charcot-Marie-Tooth disease, type 4A [RCV001055971] Chr8:74364270 [GRCh38]
Chr8:75276505 [GRCh37]
Chr8:8q21.11
pathogenic|uncertain significance
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.11-21.13(chr8:73519300-82655582)x1 copy number loss See cases [RCV000051117] Chr8:73519300..82655582 [GRCh38]
Chr8:74431535..83567817 [GRCh37]
Chr8:74594089..83730372 [NCBI36]
Chr8:8q21.11-21.13
pathogenic
GRCh38/hg38 8q21.11-21.13(chr8:73962355-74749460)x1 copy number loss See cases [RCV000052786] Chr8:73962355..74749460 [GRCh38]
Chr8:74874590..75661695 [GRCh37]
Chr8:75037144..75824250 [NCBI36]
Chr8:8q21.11-21.13
uncertain significance
GRCh38/hg38 8q21.11(chr8:73962355-74444411)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052787]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052787]|See cases [RCV000052787] Chr8:73962355..74444411 [GRCh38]
Chr8:74874590..75356646 [GRCh37]
Chr8:75037144..75519201 [NCBI36]
Chr8:8q21.11
uncertain significance
GRCh38/hg38 8q12.1-21.13(chr8:57361243-79170078)x3 copy number gain See cases [RCV000053653] Chr8:57361243..79170078 [GRCh38]
Chr8:58273802..80082313 [GRCh37]
Chr8:58436356..80244868 [NCBI36]
Chr8:8q12.1-21.13
pathogenic
GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3 copy number gain See cases [RCV000053654] Chr8:61691800..82537696 [GRCh38]
Chr8:62604359..83449931 [GRCh37]
Chr8:62766913..83612486 [NCBI36]
Chr8:8q12.3-21.13
pathogenic
GRCh38/hg38 8q13.3-21.11(chr8:70948393-74353284)x3 copy number gain See cases [RCV000053655] Chr8:70948393..74353284 [GRCh38]
Chr8:71860628..75265519 [GRCh37]
Chr8:72023182..75428074 [NCBI36]
Chr8:8q13.3-21.11
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.11-21.2(chr8:73879385-85611466)x1 copy number loss See cases [RCV000054259] Chr8:73879385..85611466 [GRCh38]
Chr8:74791620..86523695 [GRCh37]
Chr8:74954174..86710947 [NCBI36]
Chr8:8q21.11-21.2
pathogenic
NM_018972.4(GDAP1):c.372C>G (p.Tyr124Ter) single nucleotide variant not provided [RCV000171415] Chr8:74360198 [GRCh38]
Chr8:75272433 [GRCh37]
Chr8:8q21.11
likely pathogenic
NM_018972.4(GDAP1):c.431C>T (p.Pro144Leu) single nucleotide variant not provided [RCV000171416] Chr8:74360257 [GRCh38]
Chr8:75272492 [GRCh37]
Chr8:8q21.11
likely pathogenic
NM_018972.4(GDAP1):c.248G>C (p.Gly83Ala) single nucleotide variant Charcot-Marie-Tooth disease [RCV000857204]|Charcot-Marie-Tooth disease, type 4A [RCV000643967]|not provided [RCV000143823] Chr8:74351404 [GRCh38]
Chr8:75263639 [GRCh37]
Chr8:8q21.11
benign|uncertain significance
GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3 copy number gain See cases [RCV000137050] Chr8:66171669..93505509 [GRCh38]
Chr8:67083904..94517737 [GRCh37]
Chr8:67246458..94586913 [NCBI36]
Chr8:8q13.1-22.1
pathogenic
GRCh38/hg38 8q13.1-21.13(chr8:66633845-80100089)x3 copy number gain See cases [RCV000138027] Chr8:66633845..80100089 [GRCh38]
Chr8:67546080..81012324 [GRCh37]
Chr8:67708634..81174879 [NCBI36]
Chr8:8q13.1-21.13
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
NM_018972.4(GDAP1):c.169A>C (p.Ser57Arg) single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV000198483] Chr8:74351325 [GRCh38]
Chr8:75263560 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.556A>G (p.Ile186Val) single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV001161257]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV001159853]|Charcot-Marie-Tooth disease, type 4A [RCV000200426]|not provided [RCV000416100] Chr8:74361955 [GRCh38]
Chr8:75274190 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.373C>T (p.Arg125Ter) single nucleotide variant Charcot-Marie-Tooth disease type 2K [RCV000661961]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV000661962]|Charcot-Marie-Tooth disease, type 4A [RCV000201184]|not provided [RCV000760441] Chr8:74360199 [GRCh38]
Chr8:75272434 [GRCh37]
Chr8:8q21.11
pathogenic
NM_018972.4(GDAP1):c.579+1G>A single nucleotide variant Charcot-Marie-Tooth disease [RCV000789161]|Charcot-Marie-Tooth disease, type 4A [RCV000204949] Chr8:74361979 [GRCh38]
Chr8:75274214 [GRCh37]
Chr8:8q21.11
pathogenic|uncertain significance
NM_018972.4(GDAP1):c.614T>C (p.Leu205Ser) single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV000230476] Chr8:74362973 [GRCh38]
Chr8:75275208 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.1045T>C (p.Leu349=) single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV000227499] Chr8:74364335 [GRCh38]
Chr8:75276570 [GRCh37]
Chr8:8q21.11
likely benign
NM_018972.4(GDAP1):c.694+5G>A single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV000234469] Chr8:74363058 [GRCh38]
Chr8:75275293 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.767A>G (p.His256Arg) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789787]|Charcot-Marie-Tooth disease, type 4A [RCV000820420]|not provided [RCV000757324] Chr8:74364057 [GRCh38]
Chr8:75276292 [GRCh37]
Chr8:8q21.11
pathogenic|uncertain significance
NM_018972.4(GDAP1):c.310+6del deletion Charcot-Marie-Tooth disease [RCV001173553]|Charcot-Marie-Tooth disease, type 4A [RCV001079588]|Charcot-Marie-Tooth with Vocal Cord Paresis [RCV000314404]|Charcot-Marie-Tooth, Intermediate [RCV000369024]|not provided [RCV000487806]|not specified [RCV000235258] Chr8:74351472 [GRCh38]
Chr8:75263707 [GRCh37]
Chr8:8q21.11
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_018972.4(GDAP1):c.769C>T (p.Arg257Ter) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789164]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV000664207]|Charcot-Marie-Tooth disease, type 4A [RCV001206561]|not provided [RCV000235362] Chr8:74364059 [GRCh38]
Chr8:75276294 [GRCh37]
Chr8:8q21.11
pathogenic|uncertain significance
NM_018972.4(GDAP1):c.818G>A (p.Arg273Gln) single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV001066504]|not provided [RCV000236133] Chr8:74364108 [GRCh38]
Chr8:75276343 [GRCh37]
Chr8:8q21.11
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_018972.4(GDAP1):c.399G>A (p.Met133Ile) single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV000474009]|not provided [RCV000767009]|not specified [RCV000236408] Chr8:74360225 [GRCh38]
Chr8:75272460 [GRCh37]
Chr8:8q21.11
pathogenic|likely pathogenic|uncertain significance
NM_018972.4(GDAP1):c.376G>A (p.Glu126Lys) single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV000805046]|not provided [RCV000236743] Chr8:74360202 [GRCh38]
Chr8:75272437 [GRCh37]
Chr8:8q21.11
likely pathogenic|uncertain significance
NM_018972.4(GDAP1):c.23A>G (p.Gln8Arg) single nucleotide variant not provided [RCV000236574] Chr8:74350484 [GRCh38]
Chr8:75262719 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.985C>T (p.Leu329Phe) single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV001049793]|not provided [RCV000237016] Chr8:74364275 [GRCh38]
Chr8:75276510 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.507T>G (p.Ser169=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173552]|Charcot-Marie-Tooth disease type 2K [RCV000576842]|Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV000325881]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV000380453]|Charcot-Marie-Tooth disease, type 4A [RCV000860132]|not specified [RCV000251902] Chr8:74361906 [GRCh38]
Chr8:75274141 [GRCh37]
Chr8:8q21.11
benign
NM_018972.4(GDAP1):c.653A>G (p.Gln218Arg) single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV000527122] Chr8:74363012 [GRCh38]
Chr8:75275247 [GRCh37]
Chr8:8q21.11
uncertain significance
GRCh37/hg19 8q13.3-21.13(chr8:70971013-82019151)x3 copy number gain See cases [RCV000240367] Chr8:70971013..82019151 [GRCh37]
Chr8:8q13.3-21.13
likely pathogenic
NM_018972.4(GDAP1):c.811G>A (p.Gly271Arg) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789643]|Charcot-Marie-Tooth disease, type 4A [RCV000530141] Chr8:74364101 [GRCh38]
Chr8:75276336 [GRCh37]
Chr8:8q21.11
pathogenic|likely pathogenic|uncertain significance
NM_018972.4(GDAP1):c.*1855A>G single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV000283960]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV000378391] Chr8:74366222 [GRCh38]
Chr8:75278457 [GRCh37]
Chr8:8q21.11
benign
NM_018972.4(GDAP1):c.*1878G>T single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV000320798]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV000375447] Chr8:74366245 [GRCh38]
Chr8:75278480 [GRCh37]
Chr8:8q21.11
benign
NM_018972.4(GDAP1):c.*2298A>G single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV000362914]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV000268216] Chr8:74366665 [GRCh38]
Chr8:75278900 [GRCh37]
Chr8:8q21.11
likely benign|uncertain significance
NM_018972.4(GDAP1):c.*830C>G single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV000268688]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV000323750] Chr8:74365197 [GRCh38]
Chr8:75277432 [GRCh37]
Chr8:8q21.11
benign
NM_018972.4(GDAP1):c.*1489del deletion Charcot-Marie-Tooth with Vocal Cord Paresis [RCV000400453]|Charcot-Marie-Tooth, Intermediate [RCV000302234] Chr8:74365856 [GRCh38]
Chr8:75278091 [GRCh37]
Chr8:8q21.11
likely benign
NM_018972.4(GDAP1):c.*1430T>A single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV000381574]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV000345687] Chr8:74365797 [GRCh38]
Chr8:75278032 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.*357A>G single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV000285881]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV000322193] Chr8:74364724 [GRCh38]
Chr8:75276959 [GRCh37]
Chr8:8q21.11
benign
NM_018972.4(GDAP1):c.*2408G>A single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV000359440]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV000323429] Chr8:74366775 [GRCh38]
Chr8:75279010 [GRCh37]
Chr8:8q21.11
likely benign
NM_018972.4(GDAP1):c.485-6T>C single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV000270724]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV000365360]|not provided [RCV000871199] Chr8:74361878 [GRCh38]
Chr8:75274113 [GRCh37]
Chr8:8q21.11
likely benign|uncertain significance
NM_018972.4(GDAP1):c.*1437A>C single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV000287231]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV000342245] Chr8:74365804 [GRCh38]
Chr8:75278039 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.*931A>G single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV000386056]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV000350163] Chr8:74365298 [GRCh38]
Chr8:75277533 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.*1647C>T single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV000367103]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV000272511] Chr8:74366014 [GRCh38]
Chr8:75278249 [GRCh37]
Chr8:8q21.11
benign|likely benign
NM_018972.4(GDAP1):c.*1701T>C single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV000327622]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV000382230] Chr8:74366068 [GRCh38]
Chr8:75278303 [GRCh37]
Chr8:8q21.11
likely benign|uncertain significance
NM_018972.4(GDAP1):c.*2214A>G single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV000391330]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV000308042] Chr8:74366581 [GRCh38]
Chr8:75278816 [GRCh37]
Chr8:8q21.11
benign
NM_018972.4(GDAP1):c.*797A>G single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV000309016]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV000363745] Chr8:74365164 [GRCh38]
Chr8:75277399 [GRCh37]
Chr8:8q21.11
benign
NM_018972.4(GDAP1):c.374G>A (p.Arg125Gln) single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV000329445]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV000274355] Chr8:74360200 [GRCh38]
Chr8:75272435 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.*1429A>G single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV000385154]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV000290889] Chr8:74365796 [GRCh38]
Chr8:75278031 [GRCh37]
Chr8:8q21.11
benign|uncertain significance
NM_018972.4(GDAP1):c.*934_*935insTA insertion Charcot-Marie-Tooth with Vocal Cord Paresis [RCV000291607]|Charcot-Marie-Tooth, Intermediate [RCV000346488] Chr8:74365301..74365302 [GRCh38]
Chr8:75277536..75277537 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.*1173G>T single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV000259272]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV000355071] Chr8:74365540 [GRCh38]
Chr8:75277775 [GRCh37]
Chr8:8q21.11
benign|likely benign
NM_018972.4(GDAP1):c.*1416G>A single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV000330743]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV000275608] Chr8:74365783 [GRCh38]
Chr8:75278018 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.*2210C>T single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV000366263]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV000311591] Chr8:74366577 [GRCh38]
Chr8:75278812 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.*1639A>G single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV000314066]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV000277735] Chr8:74366006 [GRCh38]
Chr8:75278241 [GRCh37]
Chr8:8q21.11
likely benign|uncertain significance
NM_018972.4(GDAP1):c.*1976C>T single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV000400872]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV000296004] Chr8:74366343 [GRCh38]
Chr8:75278578 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.*561C>G single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV000402287]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV000337465] Chr8:74364928 [GRCh38]
Chr8:75277163 [GRCh37]
Chr8:8q21.11
benign|likely benign
NM_018972.4(GDAP1):c.*1162T>C single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV000263687]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV000300174] Chr8:74365529 [GRCh38]
Chr8:75277764 [GRCh37]
Chr8:8q21.11
likely benign|uncertain significance
NM_018972.4(GDAP1):c.*2463A>G single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV000319994]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV000264822] Chr8:74366830 [GRCh38]
Chr8:75279065 [GRCh37]
Chr8:8q21.11
benign|likely benign
NM_018972.4(GDAP1):c.*873T>C single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV000280749]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV000317101] Chr8:74365240 [GRCh38]
Chr8:75277475 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.*858G>T single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV000265675]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV000360347] Chr8:74365225 [GRCh38]
Chr8:75277460 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.*444A>G single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV000282172]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV000376870] Chr8:74364811 [GRCh38]
Chr8:75277046 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.*1030T>C single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV000406749]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV000343141] Chr8:74365397 [GRCh38]
Chr8:75277632 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.*751A>G single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV000367170]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV000391077] Chr8:74365118 [GRCh38]
Chr8:75277353 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.*1923C>T single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV000335966]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV000280962] Chr8:74366290 [GRCh38]
Chr8:75278525 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.501del (p.Glu168fs) deletion Charcot-Marie-Tooth disease [RCV000789712]|not provided [RCV000366418] Chr8:74361900 [GRCh38]
Chr8:75274135 [GRCh37]
Chr8:8q21.11
pathogenic
NM_001362931.2(GDAP1):c.694+3867dup duplication Charcot-Marie-Tooth with Vocal Cord Paresis [RCV000278185]|Charcot-Marie-Tooth, Intermediate [RCV000374648] Chr8:74366913..74366914 [GRCh38]
Chr8:75279148..75279149 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.*618C>T single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV000352487]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV000278782] Chr8:74364985 [GRCh38]
Chr8:75277220 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.*1779G>T single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV000268766]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV000323822] Chr8:74366146 [GRCh38]
Chr8:75278381 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.109T>A (p.Ser37Thr) single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV000643969]|Inborn genetic diseases [RCV000624091]|not provided [RCV000489068] Chr8:74350570 [GRCh38]
Chr8:75262805 [GRCh37]
Chr8:8q21.11
likely pathogenic|uncertain significance
NM_018972.4(GDAP1):c.577A>C (p.Lys193Gln) single nucleotide variant not provided [RCV000489350] Chr8:74361976 [GRCh38]
Chr8:75274211 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.90T>C (p.His30=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173547]|Charcot-Marie-Tooth disease, type 4A [RCV001088863]|not provided [RCV000711791] Chr8:74350551 [GRCh38]
Chr8:75262786 [GRCh37]
Chr8:8q21.11
benign|likely benign
NM_018972.4(GDAP1):c.1006G>T (p.Ala336Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2K [RCV000764780]|Charcot-Marie-Tooth disease, type 4A [RCV000554435] Chr8:74364296 [GRCh38]
Chr8:75276531 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_001362931.2(GDAP1):c.694+4059_694+4060dup duplication Charcot-Marie-Tooth with Vocal Cord Paresis [RCV000390317]|Charcot-Marie-Tooth, Intermediate [RCV000344727] Chr8:74367098..74367099 [GRCh38]
Chr8:75279333..75279334 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_001362931.2(GDAP1):c.694+4044_694+4045insAAA insertion Charcot-Marie-Tooth with Vocal Cord Paresis [RCV000292050]|Charcot-Marie-Tooth, Intermediate [RCV000397214] Chr8:74367097..74367098 [GRCh38]
Chr8:75279332..75279333 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.*1124G>T single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV000358394]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV000303648] Chr8:74365491 [GRCh38]
Chr8:75277726 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_001362931.2(GDAP1):c.694+4057_694+4060dup duplication Charcot-Marie-Tooth with Vocal Cord Paresis [RCV000361862]|Charcot-Marie-Tooth, Intermediate [RCV000304782] Chr8:74367098..74367099 [GRCh38]
Chr8:75279333..75279334 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_001362931.2(GDAP1):c.694+4037T>C single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV000316909]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV000387709] Chr8:74367090 [GRCh38]
Chr8:75279325 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.*1377C>T single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV000333152]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV000387617] Chr8:74365744 [GRCh38]
Chr8:75277979 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_001362931.2(GDAP1):c.694+4044_694+4045insAA insertion Charcot-Marie-Tooth with Vocal Cord Paresis [RCV000348293]|Charcot-Marie-Tooth, Intermediate [RCV000295650] Chr8:74367097..74367098 [GRCh38]
Chr8:75279332..75279333 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.*961G>C single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV000390241]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV000307079] Chr8:74365328 [GRCh38]
Chr8:75277563 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.*864G>C single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV000320696]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV000375339] Chr8:74365231 [GRCh38]
Chr8:75277466 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.*2170A>G single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV000350951]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV000400609] Chr8:74366537 [GRCh38]
Chr8:75278772 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.*898A>G single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV000296076]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV000371838] Chr8:74365265 [GRCh38]
Chr8:75277500 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.-51_-49del deletion Charcot-Marie-Tooth with Vocal Cord Paresis [RCV000391878]|Charcot-Marie-Tooth, Intermediate [RCV000370201] Chr8:74350410..74350412 [GRCh38]
Chr8:75262645..75262647 [GRCh37]
Chr8:8q21.11
likely benign
NM_018972.4(GDAP1):c.*1527G>A single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV000399559]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV000338397] Chr8:74365894 [GRCh38]
Chr8:75278129 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.*1570G>C single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV000298839]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV000353739] Chr8:74365937 [GRCh38]
Chr8:75278172 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.*663T>C single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV000390421]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV000312378] Chr8:74365030 [GRCh38]
Chr8:75277265 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.474A>G (p.Thr158=) single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV000549677] Chr8:74360300 [GRCh38]
Chr8:75272535 [GRCh37]
Chr8:8q21.11
likely benign
NM_018972.4(GDAP1):c.695-9T>A single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV000690588]|not provided [RCV000523643] Chr8:74363976 [GRCh38]
Chr8:75276211 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.965C>T (p.Thr322Met) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173317]|Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV001162809]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV001162808]|Charcot-Marie-Tooth disease, type 4A [RCV000529356] Chr8:74364255 [GRCh38]
Chr8:75276490 [GRCh37]
Chr8:8q21.11
likely benign|uncertain significance
NC_000008.10:g.(?_74888497)_(75274233_?)dup duplication Charcot-Marie-Tooth disease, type 4A [RCV000815923] Chr8:73976262..74361998 [GRCh38]
Chr8:74888497..75274233 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.501_502AG[1] (p.Glu168fs) microsatellite Charcot-Marie-Tooth disease, type 4A [RCV000559806] Chr8:74361900..74361901 [GRCh38]
Chr8:75274135..75274136 [GRCh37]
Chr8:8q21.11
pathogenic
NC_000008.9:g.(75248716_75262617)_(75559358_75586021)del deletion Charcot-Marie-Tooth disease, type 4A [RCV000735278] Chr8:8q21.11 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_018972.4(GDAP1):c.161A>G (p.His54Arg) single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV000553686] Chr8:74351317 [GRCh38]
Chr8:75263552 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.-20C>T single nucleotide variant not specified [RCV000418211] Chr8:74350442 [GRCh38]
Chr8:75262677 [GRCh37]
Chr8:8q21.11
likely benign
NM_018972.4(GDAP1):c.586C>G (p.Leu196Val) single nucleotide variant not provided [RCV000438424] Chr8:74362945 [GRCh38]
Chr8:75275180 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.485-20C>G single nucleotide variant Charcot-Marie-Tooth disease [RCV001173554]|not specified [RCV000429602] Chr8:74361864 [GRCh38]
Chr8:75274099 [GRCh37]
Chr8:8q21.11
benign
NM_018972.4(GDAP1):c.693A>T (p.Pro231=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173322]|Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV001161258]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV001161259]|Charcot-Marie-Tooth disease, type 4A [RCV000643968]|not specified [RCV000440113] Chr8:74363052 [GRCh38]
Chr8:75275287 [GRCh37]
Chr8:8q21.11
likely benign|uncertain significance
GRCh37/hg19 8q21.11-21.13(chr8:75197438-81685526)x1 copy number loss See cases [RCV000445718] Chr8:75197438..81685526 [GRCh37]
Chr8:8q21.11-21.13
pathogenic
NM_018972.4(GDAP1):c.485-3C>T single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV001046589]|not specified [RCV000427093] Chr8:74361881 [GRCh38]
Chr8:75274116 [GRCh37]
Chr8:8q21.11
likely benign|uncertain significance
NM_018972.4(GDAP1):c.710C>G (p.Pro237Arg) single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV000465962] Chr8:74364000 [GRCh38]
Chr8:75276235 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.89A>T (p.His30Leu) single nucleotide variant not provided [RCV000482807] Chr8:74350550 [GRCh38]
Chr8:75262785 [GRCh37]
Chr8:8q21.11
likely pathogenic
NM_018972.4(GDAP1):c.579del (p.Lys193fs) deletion Charcot-Marie-Tooth disease [RCV000789792]|Charcot-Marie-Tooth disease, type 4A [RCV000466389] Chr8:74361976 [GRCh38]
Chr8:75274211 [GRCh37]
Chr8:8q21.11
pathogenic|uncertain significance
NM_018972.4(GDAP1):c.458C>T (p.Pro153Leu) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789054]|Charcot-Marie-Tooth disease, type 4A [RCV000471926] Chr8:74360284 [GRCh38]
Chr8:75272519 [GRCh37]
Chr8:8q21.11
pathogenic|likely pathogenic|uncertain significance
NM_018972.4(GDAP1):c.216C>T (p.Asn72=) single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV000473461] Chr8:74351372 [GRCh38]
Chr8:75263607 [GRCh37]
Chr8:8q21.11
likely benign
NM_018972.4(GDAP1):c.1019dup (p.Arg341fs) duplication Charcot-Marie-Tooth disease [RCV000789145]|Charcot-Marie-Tooth disease, type 4A [RCV000473867]|Inborn genetic diseases [RCV000623049] Chr8:74364305..74364306 [GRCh38]
Chr8:75276540..75276541 [GRCh37]
Chr8:8q21.11
pathogenic|likely pathogenic|uncertain significance
NM_018972.4(GDAP1):c.308A>T (p.Asp103Val) single nucleotide variant not provided [RCV000486366] Chr8:74351464 [GRCh38]
Chr8:75263699 [GRCh37]
Chr8:8q21.11
likely pathogenic
NM_018972.4(GDAP1):c.786del (p.Phe263fs) deletion Charcot-Marie-Tooth disease [RCV000789157]|Charcot-Marie-Tooth disease, type 4A [RCV000456890]|not provided [RCV000479637] Chr8:74364073 [GRCh38]
Chr8:75276308 [GRCh37]
Chr8:8q21.11
pathogenic|likely pathogenic|uncertain significance
NM_018972.4(GDAP1):c.311-1790_408del deletion Charcot-Marie-Tooth disease, type 4A [RCV000456790] Chr8:74358345..74360232 [GRCh38]
Chr8:75270580..75272467 [GRCh37]
Chr8:8q21.11
likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_018972.4(GDAP1):c.536C>A (p.Pro179Gln) single nucleotide variant not provided [RCV000493828] Chr8:74361935 [GRCh38]
Chr8:75274170 [GRCh37]
Chr8:8q21.11
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_018972.4(GDAP1):c.33C>G (p.Ser11Arg) single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV001081630]|not provided [RCV000658365] Chr8:74350494 [GRCh38]
Chr8:75262729 [GRCh37]
Chr8:8q21.11
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_018972.4(GDAP1):c.840C>T (p.Tyr280=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173321]|Charcot-Marie-Tooth disease, type 4A [RCV001083697]|not provided [RCV000540301] Chr8:74364130 [GRCh38]
Chr8:75276365 [GRCh37]
Chr8:8q21.11
likely benign
NM_018972.4(GDAP1):c.770G>A (p.Arg257Gln) single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV000541075] Chr8:74364060 [GRCh38]
Chr8:75276295 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.776A>G (p.Lys259Arg) single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV001161263]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV001161262]|Charcot-Marie-Tooth disease, type 4A [RCV000556352] Chr8:74364066 [GRCh38]
Chr8:75276301 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.459G>A (p.Pro153=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173314]|Charcot-Marie-Tooth disease, type 4A [RCV000534935] Chr8:74360285 [GRCh38]
Chr8:75272520 [GRCh37]
Chr8:8q21.11
likely benign|uncertain significance
NM_018972.4(GDAP1):c.571C>T (p.Arg191Ter) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790267]|Charcot-Marie-Tooth disease, type 4A [RCV000643966] Chr8:74361970 [GRCh38]
Chr8:75274205 [GRCh37]
Chr8:8q21.11
pathogenic|uncertain significance
NM_018972.4(GDAP1):c.310+8del deletion Charcot-Marie-Tooth disease, type 4A [RCV000643972] Chr8:74351473 [GRCh38]
Chr8:75263708 [GRCh37]
Chr8:8q21.11
likely benign
NM_018972.4(GDAP1):c.225A>G (p.Gly75=) single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV000643973] Chr8:74351381 [GRCh38]
Chr8:75263616 [GRCh37]
Chr8:8q21.11
likely benign
NM_018972.4(GDAP1):c.720C>T (p.Cys240=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173325]|Charcot-Marie-Tooth disease, type 4A [RCV000869254]|not specified [RCV000615031] Chr8:74364010 [GRCh38]
Chr8:75276245 [GRCh37]
Chr8:8q21.11
likely benign
NM_018972.4(GDAP1):c.102C>G (p.Ser34=) single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV000533311] Chr8:74350563 [GRCh38]
Chr8:75262798 [GRCh37]
Chr8:8q21.11
benign
NM_018972.4(GDAP1):c.744C>T (p.Asp248=) single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV000534088] Chr8:74364034 [GRCh38]
Chr8:75276269 [GRCh37]
Chr8:8q21.11
likely benign
NM_018972.4(GDAP1):c.430C>A (p.Pro144Thr) single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV000556624] Chr8:74360256 [GRCh38]
Chr8:75272491 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.117+12C>G single nucleotide variant Charcot-Marie-Tooth disease [RCV001173549]|not specified [RCV000607358] Chr8:74350590 [GRCh38]
Chr8:75262825 [GRCh37]
Chr8:8q21.11
likely benign
NM_018972.4(GDAP1):c.907G>T (p.Ala303Ser) single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV000643965] Chr8:74364197 [GRCh38]
Chr8:75276432 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.620A>C (p.Lys207Thr) single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV000643970]|not provided [RCV000762523] Chr8:74362979 [GRCh38]
Chr8:75275214 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.260T>C (p.Ile87Thr) single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV000643971] Chr8:74351416 [GRCh38]
Chr8:75263651 [GRCh37]
Chr8:8q21.11
uncertain significance
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
NM_018972.4(GDAP1):c.405C>T (p.Ala135=) single nucleotide variant not provided [RCV000585163] Chr8:74360231 [GRCh38]
Chr8:75272466 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.785G>A (p.Gly262Glu) single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV000686814] Chr8:74364075 [GRCh38]
Chr8:75276310 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_001362931.2(GDAP1):c.694+932_694+1314del deletion Charcot-Marie-Tooth disease, recessive intermediate A [RCV000664236] Chr8:74363982..74364364 [GRCh38]
Chr8:75276217..75276599 [GRCh37]
Chr8:8q21.11
pathogenic
Single allele deletion Charcot-Marie-Tooth disease type 2K [RCV000678027] Chr8:73876981..74367518 [GRCh38]
Chr8:74789216..75279753 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.977T>A (p.Val326Asp) single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV000690452]|not provided [RCV000711792] Chr8:74364267 [GRCh38]
Chr8:75276502 [GRCh37]
Chr8:8q21.11
uncertain significance
GRCh37/hg19 8q21.11-21.13(chr8:74942333-80413867)x1 copy number loss not provided [RCV000683031] Chr8:74942333..80413867 [GRCh37]
Chr8:8q21.11-21.13
pathogenic
NM_018972.4(GDAP1):c.86A>C (p.Tyr29Ser) single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV000687690] Chr8:74350547 [GRCh38]
Chr8:75262782 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.112C>T (p.Gln38Ter) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173312]|Charcot-Marie-Tooth disease type 4 [RCV000857203]|Charcot-Marie-Tooth disease, type 4A [RCV000690220] Chr8:74350573 [GRCh38]
Chr8:75262808 [GRCh37]
Chr8:8q21.11
pathogenic|likely pathogenic|uncertain significance
NM_018972.4(GDAP1):c.820C>G (p.Pro274Ala) single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV000690550] Chr8:74364110 [GRCh38]
Chr8:75276345 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.1037G>A (p.Ser346Asn) single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV000695115] Chr8:74364327 [GRCh38]
Chr8:75276562 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.256A>G (p.Ile86Val) single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV000689392] Chr8:74351412 [GRCh38]
Chr8:75263647 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.419G>T (p.Cys140Phe) single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV000707673] Chr8:74360245 [GRCh38]
Chr8:75272480 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.694+1G>A single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV000696394] Chr8:74363054 [GRCh38]
Chr8:75275289 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.845G>A (p.Arg282His) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789687]|Charcot-Marie-Tooth disease, type 4A [RCV000697077] Chr8:74364135 [GRCh38]
Chr8:75276370 [GRCh37]
Chr8:8q21.11
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.11(chr8:75278457-75322485)x0 copy number loss not provided [RCV000747661] Chr8:75278457..75322485 [GRCh37]
Chr8:8q21.11
benign
NM_018972.4(GDAP1):c.782T>C (p.Leu261Pro) single nucleotide variant not provided [RCV000762524] Chr8:74364072 [GRCh38]
Chr8:75276307 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.296A>T (p.Gln99Leu) single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV001164769]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV001164770] Chr8:74351452 [GRCh38]
Chr8:75263687 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.*1183G>A single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV001165111]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV001165110] Chr8:74365550 [GRCh38]
Chr8:75277785 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_001362931.2(GDAP1):c.694+3989C>T single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV001165342]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV001158613] Chr8:74367042 [GRCh38]
Chr8:75279277 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.706C>A (p.Gln236Lys) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000857209] Chr8:74363996 [GRCh38]
Chr8:75276231 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.919A>G (p.Thr307Ala) single nucleotide variant Charcot-Marie-Tooth disease [RCV000857210] Chr8:74364209 [GRCh38]
Chr8:75276444 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.21G>A (p.Glu7=) single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV000868553] Chr8:74350482 [GRCh38]
Chr8:75262717 [GRCh37]
Chr8:8q21.11
likely benign
NM_018972.4(GDAP1):c.120G>A (p.Val40=) single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV000866949] Chr8:74351276 [GRCh38]
Chr8:75263511 [GRCh37]
Chr8:8q21.11
likely benign
NM_018972.4(GDAP1):c.165T>C (p.Asp55=) single nucleotide variant not provided [RCV000923831] Chr8:74351321 [GRCh38]
Chr8:75263556 [GRCh37]
Chr8:8q21.11
likely benign
NM_018972.4(GDAP1):c.602A>G (p.Asn201Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2K [RCV001007465] Chr8:74362961 [GRCh38]
Chr8:75275196 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.58G>A (p.Ala20Thr) single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV001061324] Chr8:74350519 [GRCh38]
Chr8:75262754 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.1039A>G (p.Met347Val) single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV001162811]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV001162810]|Charcot-Marie-Tooth disease, type 4A [RCV001048938] Chr8:74364329 [GRCh38]
Chr8:75276564 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.385G>C (p.Asp129His) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789151] Chr8:74360211 [GRCh38]
Chr8:75272446 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.445G>T (p.Asp149Tyr) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789158] Chr8:74360271 [GRCh38]
Chr8:75272506 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.117G>C (p.Lys39Asn) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789160] Chr8:74350578 [GRCh38]
Chr8:75262813 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.1031T>G (p.Leu344Arg) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789166] Chr8:74364321 [GRCh38]
Chr8:75276556 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.389C>G (p.Ser130Cys) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789641] Chr8:74360215 [GRCh38]
Chr8:75272450 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.116del (p.Lys39fs) deletion Charcot-Marie-Tooth disease [RCV000789711]|Charcot-Marie-Tooth disease, type 4A [RCV000814937] Chr8:74350574 [GRCh38]
Chr8:75262809 [GRCh37]
Chr8:8q21.11
pathogenic
NM_018972.4(GDAP1):c.174_176delinsTGTG (p.Pro59fs) indel Charcot-Marie-Tooth disease [RCV000789781] Chr8:74351330..74351332 [GRCh38]
Chr8:75263565..75263567 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.891C>G (p.Asn297Lys) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790313] Chr8:74364181 [GRCh38]
Chr8:75276416 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.543A>G (p.Leu181=) single nucleotide variant not provided [RCV000874471] Chr8:74361942 [GRCh38]
Chr8:75274177 [GRCh37]
Chr8:8q21.11
likely benign
NM_018972.4(GDAP1):c.102= (p.Ser34=) variation Charcot-Marie-Tooth disease, type 4A [RCV000860131] Chr8:74350563 [GRCh38]
Chr8:75262798 [GRCh37]
Chr8:8q21.11
benign
NM_018972.2(GDAP1):c.347T>C single nucleotide variant Charcot-Marie-Tooth disease [RCV000789147] Chr8:74360173 [GRCh38]
Chr8:75272408 [GRCh37]
Chr8:8q21.11
uncertain significance
NC_000008.11:g.74350301G>T single nucleotide variant not provided [RCV000841127] Chr8:74350301 [GRCh38]
Chr8:75262536 [GRCh37]
Chr8:8q21.11
benign
NM_018972.4(GDAP1):c.310+243_310+244del deletion not provided [RCV000841129] Chr8:74351709..74351710 [GRCh38]
Chr8:75263944..75263945 [GRCh37]
Chr8:8q21.11
benign
NM_018972.4(GDAP1):c.311-85T>C single nucleotide variant not provided [RCV000841134] Chr8:74360052 [GRCh38]
Chr8:75272287 [GRCh37]
Chr8:8q21.11
benign
NM_018972.4(GDAP1):c.695-293C>T single nucleotide variant not provided [RCV000827699] Chr8:74363692 [GRCh38]
Chr8:75275927 [GRCh37]
Chr8:8q21.11
likely benign
NM_018972.4(GDAP1):c.523G>C (p.Ala175Pro) single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV000813857] Chr8:74361922 [GRCh38]
Chr8:75274157 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.580-279G>C single nucleotide variant not provided [RCV000832243] Chr8:74362660 [GRCh38]
Chr8:75274895 [GRCh37]
Chr8:8q21.11
likely benign
NM_018972.4(GDAP1):c.117+28G>A single nucleotide variant Charcot-Marie-Tooth disease [RCV001173555]|not provided [RCV000829683] Chr8:74350606 [GRCh38]
Chr8:75262841 [GRCh37]
Chr8:8q21.11
benign
NM_018972.4(GDAP1):c.310+229G>A single nucleotide variant not provided [RCV000836518] Chr8:74351695 [GRCh38]
Chr8:75263930 [GRCh37]
Chr8:8q21.11
likely benign
NM_018972.4(GDAP1):c.393G>C (p.Leu131Phe) single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV000824527] Chr8:74360219 [GRCh38]
Chr8:75272454 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.931G>A (p.Val311Met) single nucleotide variant not provided [RCV000992075] Chr8:74364221 [GRCh38]
Chr8:75276456 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.485-57T>A single nucleotide variant not provided [RCV000829697] Chr8:74361827 [GRCh38]
Chr8:75274062 [GRCh37]
Chr8:8q21.11
likely benign
NM_018972.4(GDAP1):c.485-238C>A single nucleotide variant not provided [RCV000836820] Chr8:74361646 [GRCh38]
Chr8:75273881 [GRCh37]
Chr8:8q21.11
benign
NM_018972.4(GDAP1):c.359G>T (p.Arg120Leu) single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV000820275] Chr8:74360185 [GRCh38]
Chr8:75272420 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.480T>A (p.Ile160=) single nucleotide variant not provided [RCV000827052] Chr8:74360306 [GRCh38]
Chr8:75272541 [GRCh37]
Chr8:8q21.11
likely benign
NM_018972.4(GDAP1):c.671A>C (p.Gln224Pro) single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV000820419] Chr8:74363030 [GRCh38]
Chr8:75275265 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.817C>G (p.Arg273Gly) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789148]|Charcot-Marie-Tooth disease, type 4A [RCV001035283] Chr8:74364107 [GRCh38]
Chr8:75276342 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.664G>A (p.Glu222Lys) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789149] Chr8:74363023 [GRCh38]
Chr8:75275258 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.533A>G (p.Asn178Ser) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789676] Chr8:74361932 [GRCh38]
Chr8:75274167 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.928del (p.Arg310fs) deletion Charcot-Marie-Tooth disease [RCV000789793] Chr8:74364217 [GRCh38]
Chr8:75276452 [GRCh37]
Chr8:8q21.11
pathogenic
NM_018972.4(GDAP1):c.679A>G (p.Asn227Asp) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790314] Chr8:74363038 [GRCh38]
Chr8:75275273 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.439del (p.Thr147fs) deletion Charcot-Marie-Tooth disease [RCV000789146] Chr8:74360264 [GRCh38]
Chr8:75272499 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.656T>A (p.Val219Asp) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789155] Chr8:74363015 [GRCh38]
Chr8:75275250 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.172_173delinsTTA (p.Pro59fs) indel Charcot-Marie-Tooth disease [RCV000789163] Chr8:74351328..74351329 [GRCh38]
Chr8:75263563..75263564 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.740C>T (p.Ala247Val) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789779] Chr8:74364030 [GRCh38]
Chr8:75276265 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.233C>T (p.Pro78Leu) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789784] Chr8:74351389 [GRCh38]
Chr8:75263624 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.677G>A (p.Arg226Lys) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789785] Chr8:74363036 [GRCh38]
Chr8:75275271 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.668T>A (p.Leu223Ter) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789790] Chr8:74363027 [GRCh38]
Chr8:75275262 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.332C>A (p.Pro111His) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789786] Chr8:74360158 [GRCh38]
Chr8:75272393 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.485-2A>G single nucleotide variant Charcot-Marie-Tooth disease [RCV000789789] Chr8:74361882 [GRCh38]
Chr8:75274117 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.526G>A (p.Glu176Lys) single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV000824137] Chr8:74361925 [GRCh38]
Chr8:75274160 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.287A>G (p.Tyr96Cys) single nucleotide variant not provided [RCV000992074] Chr8:74351443 [GRCh38]
Chr8:75263678 [GRCh37]
Chr8:8q21.11
likely pathogenic
NM_018972.4(GDAP1):c.118-87G>A single nucleotide variant not provided [RCV000836819] Chr8:74351187 [GRCh38]
Chr8:75263422 [GRCh37]
Chr8:8q21.11
benign
NM_018972.4(GDAP1):c.680A>G (p.Asn227Ser) single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV000795045] Chr8:74363039 [GRCh38]
Chr8:75275274 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.694+24C>T single nucleotide variant not provided [RCV000829684] Chr8:74363077 [GRCh38]
Chr8:75275312 [GRCh37]
Chr8:8q21.11
benign
NC_000008.11:g.(?_73976132)_(74367120_?)dup duplication Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 [RCV001031609] Chr8:74888367..75279355 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.674_676GAA[1] (p.Arg226del) microsatellite Charcot-Marie-Tooth disease, type 4A [RCV000988074] Chr8:74363031..74363033 [GRCh38]
Chr8:75275266..75275268 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.917C>T (p.Pro306Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2K [RCV000985190] Chr8:74364207 [GRCh38]
Chr8:75276442 [GRCh37]
Chr8:8q21.11
likely pathogenic
NM_018972.4(GDAP1):c.817C>T (p.Arg273Ter) single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV001053475] Chr8:74364107 [GRCh38]
Chr8:75276342 [GRCh37]
Chr8:8q21.11
pathogenic
NM_018972.4(GDAP1):c.311-1G>A single nucleotide variant Charcot-Marie-Tooth disease [RCV000789640] Chr8:74360136 [GRCh38]
Chr8:75272371 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.337_340AAAG[1] (p.Glu114fs) microsatellite Charcot-Marie-Tooth disease [RCV000789642] Chr8:74360163..74360166 [GRCh38]
Chr8:75272398..75272401 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.100dup (p.Ser34fs) duplication Charcot-Marie-Tooth disease [RCV000789794] Chr8:74350559..74350560 [GRCh38]
Chr8:75262794..75262795 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.721G>A (p.Gly241Ser) single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV000812267] Chr8:74364011 [GRCh38]
Chr8:75276246 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.574C>A (p.Leu192Ile) single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV000818255]|none provided [RCV001286271] Chr8:74361973 [GRCh38]
Chr8:75274208 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.839A>C (p.Tyr280Ser) single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV000818644] Chr8:74364129 [GRCh38]
Chr8:75276364 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.695-309C>T single nucleotide variant not provided [RCV000828877] Chr8:74363676 [GRCh38]
Chr8:75275911 [GRCh37]
Chr8:8q21.11
benign
NM_018972.4(GDAP1):c.484+182C>A single nucleotide variant not provided [RCV000841135] Chr8:74360492 [GRCh38]
Chr8:75272727 [GRCh37]
Chr8:8q21.11
benign
NM_018972.4(GDAP1):c.485-186A>G single nucleotide variant not provided [RCV000841136] Chr8:74361698 [GRCh38]
Chr8:75273933 [GRCh37]
Chr8:8q21.11
benign
NM_018972.4(GDAP1):c.579+119_579+120del deletion not provided [RCV000841154] Chr8:74362097..74362098 [GRCh38]
Chr8:75274332..75274333 [GRCh37]
Chr8:8q21.11
benign
NM_018972.4(GDAP1):c.358C>G (p.Arg120Gly) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789150] Chr8:74360184 [GRCh38]
Chr8:75272419 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.678A>C (p.Arg226Ser) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789152] Chr8:74363037 [GRCh38]
Chr8:75275272 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.364C>A (p.Gln122Lys) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789154] Chr8:74360190 [GRCh38]
Chr8:75272425 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.349dup (p.Tyr117fs) duplication Charcot-Marie-Tooth disease [RCV000789162]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV000004416] Chr8:74360174..74360175 [GRCh38]
Chr8:75272409..75272410 [GRCh37]
Chr8:8q21.11
pathogenic|uncertain significance
NM_018972.4(GDAP1):c.558del (p.Ile186fs) deletion Charcot-Marie-Tooth disease [RCV000789167] Chr8:74361956 [GRCh38]
Chr8:75274191 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.864dup (p.Phe289fs) duplication Charcot-Marie-Tooth disease [RCV000789644] Chr8:74364153..74364154 [GRCh38]
Chr8:75276388..75276389 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.359G>A (p.Arg120Gln) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789783] Chr8:74360185 [GRCh38]
Chr8:75272420 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.433_437del (p.Glu145fs) deletion Charcot-Marie-Tooth disease [RCV000789153] Chr8:74360258..74360262 [GRCh38]
Chr8:75272493..75272497 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.310+3A>G single nucleotide variant Charcot-Marie-Tooth disease [RCV000789165] Chr8:74351469 [GRCh38]
Chr8:75263704 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.840del (p.Tyr279_Tyr280insTer) deletion Charcot-Marie-Tooth disease [RCV000789168] Chr8:74364130 [GRCh38]
Chr8:75276365 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.656T>G (p.Val219Gly) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789675] Chr8:74363015 [GRCh38]
Chr8:75275250 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.1A>T (p.Met1Leu) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789710] Chr8:74350462 [GRCh38]
Chr8:75262697 [GRCh37]
Chr8:8q21.11
pathogenic
NM_018972.4(GDAP1):c.101C>G (p.Ser34Cys) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789788] Chr8:74350562 [GRCh38]
Chr8:75262797 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.970C>T (p.Leu324Phe) single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV000816489] Chr8:74364260 [GRCh38]
Chr8:75276495 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.904T>G (p.Ser302Ala) single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV000811675] Chr8:74364194 [GRCh38]
Chr8:75276429 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.247G>A (p.Gly83Arg) single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV000797872] Chr8:74351403 [GRCh38]
Chr8:75263638 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.118-3C>G single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV000817745] Chr8:74351271 [GRCh38]
Chr8:75263506 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.295C>T (p.Gln99Ter) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789156] Chr8:74351451 [GRCh38]
Chr8:75263686 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.836A>G (p.Tyr279Cys) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789159] Chr8:74364126 [GRCh38]
Chr8:75276361 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.937A>G (p.Lys313Glu) single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV001059392] Chr8:74364227 [GRCh38]
Chr8:75276462 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.*195T>C single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV001164879]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV001164880] Chr8:74364562 [GRCh38]
Chr8:75276797 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.*860T>C single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV001165000]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV001164999] Chr8:74365227 [GRCh38]
Chr8:75277462 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.*1819T>C single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV001165213]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV001165214] Chr8:74366186 [GRCh38]
Chr8:75278421 [GRCh37]
Chr8:8q21.11
likely benign
NM_018972.4(GDAP1):c.118-3del deletion not provided [RCV000999044] Chr8:74351270 [GRCh38]
Chr8:75263505 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.298A>G (p.Thr100Ala) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000857205] Chr8:74351454 [GRCh38]
Chr8:75263689 [GRCh37]
Chr8:8q21.11
uncertain significance
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
NM_018972.4(GDAP1):c.*2244T>C single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV001163240]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV001163241] Chr8:74366611 [GRCh38]
Chr8:75278846 [GRCh37]
Chr8:8q21.11
benign
NM_018972.4(GDAP1):c.656T>C (p.Val219Ala) single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV001234459] Chr8:74363015 [GRCh38]
Chr8:75275250 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.250G>T (p.Glu84Ter) single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV001237827] Chr8:74351406 [GRCh38]
Chr8:75263641 [GRCh37]
Chr8:8q21.11
pathogenic
NM_018972.4(GDAP1):c.302T>A (p.Phe101Tyr) single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV001234831] Chr8:74351458 [GRCh38]
Chr8:75263693 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.619A>G (p.Lys207Glu) single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV001224519] Chr8:74362978 [GRCh38]
Chr8:75275213 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.894T>C (p.Asn298=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173546] Chr8:74364184 [GRCh38]
Chr8:75276419 [GRCh37]
Chr8:8q21.11
likely benign
NM_018972.4(GDAP1):c.75G>A (p.Lys25=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173550] Chr8:74350536 [GRCh38]
Chr8:75262771 [GRCh37]
Chr8:8q21.11
likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_018972.4(GDAP1):c.943A>G (p.Arg315Gly) single nucleotide variant not provided [RCV000999046] Chr8:74364233 [GRCh38]
Chr8:75276468 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.355C>A (p.Pro119Thr) single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV000988073] Chr8:74360181 [GRCh38]
Chr8:75272416 [GRCh37]
Chr8:8q21.11
likely pathogenic
NM_018972.4(GDAP1):c.*331C>T single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV001164881]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV001164882] Chr8:74364698 [GRCh38]
Chr8:75276933 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_001362931.2(GDAP1):c.694+3856A>G single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV001165341]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV001165340] Chr8:74366909 [GRCh38]
Chr8:75279144 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.471T>G (p.Thr157=) single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV001159852]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV001159851] Chr8:74360297 [GRCh38]
Chr8:75272532 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.*920C>G single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV001160089]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV001160088] Chr8:74365287 [GRCh38]
Chr8:75277522 [GRCh37]
Chr8:8q21.11
benign
NM_018972.4(GDAP1):c.*1372A>G single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV001158400]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV001158401] Chr8:74365739 [GRCh38]
Chr8:75277974 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.117+10G>A single nucleotide variant not provided [RCV000865867] Chr8:74350588 [GRCh38]
Chr8:75262823 [GRCh37]
Chr8:8q21.11
likely benign
NM_018972.4(GDAP1):c.1066A>G (p.Asn356Asp) single nucleotide variant Charcot-Marie-Tooth disease [RCV000857211]|Charcot-Marie-Tooth disease, type 4A [RCV001069262] Chr8:74364356 [GRCh38]
Chr8:75276591 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.810C>T (p.Asn270=) single nucleotide variant not provided [RCV000869288] Chr8:74364100 [GRCh38]
Chr8:75276335 [GRCh37]
Chr8:8q21.11
likely benign
NM_018972.4(GDAP1):c.116A>G (p.Lys39Arg) single nucleotide variant not provided [RCV000992073] Chr8:74350577 [GRCh38]
Chr8:75262812 [GRCh37]
Chr8:8q21.11
likely pathogenic
NM_018972.4(GDAP1):c.*1905A>G single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV001158503]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV001158504] Chr8:74366272 [GRCh38]
Chr8:75278507 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.1063C>T (p.Pro355Ser) single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV001235879] Chr8:74364353 [GRCh38]
Chr8:75276588 [GRCh37]
Chr8:8q21.11
uncertain significance
NC_000008.11:g.(?_74349383)_(74368110_?)dup duplication Charcot-Marie-Tooth disease, type 4A [RCV001031725] Chr8:75261618..75280345 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.681T>A (p.Asn227Lys) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173316]|Charcot-Marie-Tooth disease, type 4A [RCV001233909] Chr8:74363040 [GRCh38]
Chr8:75275275 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.579+417A>G single nucleotide variant Charcot-Marie-Tooth disease [RCV001173556] Chr8:74362395 [GRCh38]
Chr8:75274630 [GRCh37]
Chr8:8q21.11
benign
NM_018972.4(GDAP1):c.475A>G (p.Arg159Gly) single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV001059391] Chr8:74360301 [GRCh38]
Chr8:75272536 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.389C>A (p.Ser130Tyr) single nucleotide variant not provided [RCV000999045] Chr8:74360215 [GRCh38]
Chr8:75272450 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.719G>C (p.Cys240Ser) single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV001161260]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV001161261] Chr8:74364009 [GRCh38]
Chr8:75276244 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.*697A>G single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV001161374]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV001161375] Chr8:74365064 [GRCh38]
Chr8:75277299 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.*723G>A single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV001161377]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV001161376] Chr8:74365090 [GRCh38]
Chr8:75277325 [GRCh37]
Chr8:8q21.11
likely benign
NM_018972.4(GDAP1):c.*1006C>T single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV001161499]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV001161498] Chr8:74365373 [GRCh38]
Chr8:75277608 [GRCh37]
Chr8:8q21.11
likely benign
NM_018972.4(GDAP1):c.*451C>T single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV001159966]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV001159967] Chr8:74364818 [GRCh38]
Chr8:75277053 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.*644G>T single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV001161373]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV001159968] Chr8:74365011 [GRCh38]
Chr8:75277246 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.*18C>T single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV001162812]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV001162813] Chr8:74364385 [GRCh38]
Chr8:75276620 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.*1639A>T single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV001163134]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV001163135] Chr8:74366006 [GRCh38]
Chr8:75278241 [GRCh37]
Chr8:8q21.11
likely benign
NM_018972.4(GDAP1):c.*1141C>T single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV001163021]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV001163022] Chr8:74365508 [GRCh38]
Chr8:75277743 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.*1415C>T single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV001158403]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV001158402] Chr8:74365782 [GRCh38]
Chr8:75278017 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.*1968C>T single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV001161717]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV001158505] Chr8:74366335 [GRCh38]
Chr8:75278570 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_001362931.2(GDAP1):c.694+4016T>C single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV001158615]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV001158614] Chr8:74367069 [GRCh38]
Chr8:75279304 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.193G>A (p.Glu65Lys) single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV001055622] Chr8:74351349 [GRCh38]
Chr8:75263584 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.28G>A (p.Gly10Arg) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173315] Chr8:74350489 [GRCh38]
Chr8:75262724 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.207G>A (p.Met69Ile) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173318] Chr8:74351363 [GRCh38]
Chr8:75263598 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.118-16G>A single nucleotide variant Charcot-Marie-Tooth disease [RCV001173324] Chr8:74351258 [GRCh38]
Chr8:75263493 [GRCh37]
Chr8:8q21.11
likely benign
NM_018972.4(GDAP1):c.695-1G>A single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV001064614] Chr8:74363984 [GRCh38]
Chr8:75276219 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.123C>T (p.Arg41=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173548] Chr8:74351279 [GRCh38]
Chr8:75263514 [GRCh37]
Chr8:8q21.11
likely benign
NM_018972.4(GDAP1):c.609G>A (p.Lys203=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173551] Chr8:74362968 [GRCh38]
Chr8:75275203 [GRCh37]
Chr8:8q21.11
likely benign
NM_018972.4(GDAP1):c.311-7A>G single nucleotide variant Charcot-Marie-Tooth disease [RCV001173323] Chr8:74360130 [GRCh38]
Chr8:75272365 [GRCh37]
Chr8:8q21.11
likely benign
NM_018972.4(GDAP1):c.272_274delinsTTT (p.Thr91_Gln92delinsIleTer) indel Charcot-Marie-Tooth disease [RCV001173313] Chr8:74351428..74351430 [GRCh38]
Chr8:75263663..75263665 [GRCh37]
Chr8:8q21.11
likely pathogenic
NM_018972.4(GDAP1):c.4G>A (p.Ala2Thr) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173319] Chr8:74350465 [GRCh38]
Chr8:75262700 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.-19C>T single nucleotide variant Charcot-Marie-Tooth disease [RCV001173326] Chr8:74350443 [GRCh38]
Chr8:75262678 [GRCh37]
Chr8:8q21.11
likely benign
NM_018972.4(GDAP1):c.*61C>T single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV001162814]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV001164878] Chr8:74364428 [GRCh38]
Chr8:75276663 [GRCh37]
Chr8:8q21.11
benign
NM_018972.4(GDAP1):c.*1165C>G single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV001165109]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV001163023] Chr8:74365532 [GRCh38]
Chr8:75277767 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.*2298A>C single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV001163243]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV001163242] Chr8:74366665 [GRCh38]
Chr8:75278900 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.70G>T (p.Val24Phe) single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV001203150] Chr8:74350531 [GRCh38]
Chr8:75262766 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.618dup (p.Lys207fs) duplication Charcot-Marie-Tooth disease, type 4A [RCV001236810] Chr8:74362976..74362977 [GRCh38]
Chr8:75275211..75275212 [GRCh37]
Chr8:8q21.11
pathogenic
NM_018972.4(GDAP1):c.350A>G (p.Tyr117Cys) single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV001041653] Chr8:74360176 [GRCh38]
Chr8:75272411 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.765G>C (p.Leu255Phe) single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV001041966] Chr8:74364055 [GRCh38]
Chr8:75276290 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.557T>C (p.Ile186Thr) single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV001050455] Chr8:74361956 [GRCh38]
Chr8:75274191 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.310+4A>G single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV001051775] Chr8:74351470 [GRCh38]
Chr8:75263705 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.872A>G (p.Lys291Arg) single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV001161264]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV001162807]|Charcot-Marie-Tooth disease, type 4A [RCV001051778] Chr8:74364162 [GRCh38]
Chr8:75276397 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.171T>G (p.Ser57Arg) single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV001034819] Chr8:74351327 [GRCh38]
Chr8:75263562 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.310+1G>A single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV001206055] Chr8:74351467 [GRCh38]
Chr8:75263702 [GRCh37]
Chr8:8q21.11
pathogenic
NM_018972.4(GDAP1):c.892A>C (p.Asn298His) single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV001044886] Chr8:74364182 [GRCh38]
Chr8:75276417 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.927C>G (p.Phe309Leu) single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV001045082] Chr8:74364217 [GRCh38]
Chr8:75276452 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.*1301A>G single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV001165114]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV001158399] Chr8:74365668 [GRCh38]
Chr8:75277903 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.880G>A (p.Gly294Arg) single nucleotide variant Charcot-Marie-Tooth disease, type 4A [RCV001232525] Chr8:74364170 [GRCh38]
Chr8:75276405 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.*1080G>A single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV001161502]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV001163020] Chr8:74365447 [GRCh38]
Chr8:75277682 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.492T>C (p.Ile164=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173320] Chr8:74361891 [GRCh38]
Chr8:75274126 [GRCh37]
Chr8:8q21.11
likely benign
NM_018972.4(GDAP1):c.802_803del (p.Trp268fs) deletion Charcot-Marie-Tooth disease type 2K [RCV001007464] Chr8:74364092..74364093 [GRCh38]
Chr8:75276327..75276328 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.*926C>A single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV001160090]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV001160091] Chr8:74365293 [GRCh38]
Chr8:75277528 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.*1289T>C single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV001165113]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV001165112] Chr8:74365656 [GRCh38]
Chr8:75277891 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.*1043G>C single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV001161501]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV001161500] Chr8:74365410 [GRCh38]
Chr8:75277645 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.*2125A>C single nucleotide variant Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive [RCV001161719]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV001161718] Chr8:74366492 [GRCh38]
Chr8:75278727 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.140del (p.Lys47fs) deletion Charcot-Marie-Tooth disease type 2K [RCV001250993] Chr8:74351293 [GRCh38]
Chr8:75263528 [GRCh37]
Chr8:8q21.11
pathogenic
NM_018972.4(GDAP1):c.311-15G>A single nucleotide variant Pes cavus [RCV001265215] Chr8:74360122 [GRCh38]
Chr8:75272357 [GRCh37]
Chr8:8q21.11
uncertain significance
NM_018972.4(GDAP1):c.182G>A (p.Ser61Asn) single nucleotide variant Charcot-Marie-Tooth disease type 2K [RCV001262182] Chr8:74351338 [GRCh38]
Chr8:75263573 [GRCh37]
Chr8:8q21.11
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:15968 AgrOrtholog
COSMIC GDAP1 COSMIC
Ensembl Genes ENSG00000104381 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000220822 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000430136 UniProtKB/TrEMBL
  ENSP00000501568 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000501569 UniProtKB/TrEMBL
  ENSP00000501616 UniProtKB/TrEMBL
  ENSP00000501626 UniProtKB/TrEMBL
  ENSP00000501769 UniProtKB/TrEMBL
  ENSP00000501785 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000501799 UniProtKB/TrEMBL
  ENSP00000501848 UniProtKB/TrEMBL
  ENSP00000501858 UniProtKB/TrEMBL
  ENSP00000501860 UniProtKB/TrEMBL
  ENSP00000501864 UniProtKB/TrEMBL
  ENSP00000501912 UniProtKB/TrEMBL
  ENSP00000501946 UniProtKB/TrEMBL
  ENSP00000501958 UniProtKB/TrEMBL
  ENSP00000502017 UniProtKB/TrEMBL
  ENSP00000502036 UniProtKB/TrEMBL
  ENSP00000502041 UniProtKB/TrEMBL
  ENSP00000502063 UniProtKB/TrEMBL
  ENSP00000502118 UniProtKB/TrEMBL
  ENSP00000502119 UniProtKB/TrEMBL
  ENSP00000502120 UniProtKB/TrEMBL
  ENSP00000502187 UniProtKB/TrEMBL
  ENSP00000502198 UniProtKB/TrEMBL
  ENSP00000502295 UniProtKB/TrEMBL
  ENSP00000502308 UniProtKB/TrEMBL
  ENSP00000502327 UniProtKB/TrEMBL
  ENSP00000502437 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000502447 UniProtKB/TrEMBL
  ENSP00000502572 UniProtKB/TrEMBL
  ENSP00000502588 UniProtKB/TrEMBL
  ENSP00000502612 UniProtKB/TrEMBL
  ENSP00000502637 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000502638 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000502665 UniProtKB/TrEMBL
  ENSP00000502673 UniProtKB/Swiss-Prot
  ENSP00000502756 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000502762 UniProtKB/TrEMBL
  ENSP00000502828 UniProtKB/TrEMBL
  ENSP00000502838 UniProtKB/TrEMBL
Ensembl Transcript ENST00000220822 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000522568 UniProtKB/TrEMBL
  ENST00000523640 UniProtKB/TrEMBL
  ENST00000524195 UniProtKB/TrEMBL
  ENST00000674612 UniProtKB/TrEMBL
  ENST00000674710 UniProtKB/TrEMBL
  ENST00000674754 UniProtKB/TrEMBL
  ENST00000674756 UniProtKB/TrEMBL
  ENST00000674806 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000674865 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000674926 UniProtKB/TrEMBL
  ENST00000674934 UniProtKB/TrEMBL
  ENST00000674944 UniProtKB/TrEMBL
  ENST00000674946 UniProtKB/TrEMBL
  ENST00000674973 UniProtKB/TrEMBL
  ENST00000675007 UniProtKB/TrEMBL
  ENST00000675060 UniProtKB/TrEMBL
  ENST00000675165 UniProtKB/TrEMBL
  ENST00000675220 UniProtKB/TrEMBL
  ENST00000675265 UniProtKB/TrEMBL
  ENST00000675336 UniProtKB/TrEMBL
  ENST00000675376 UniProtKB/TrEMBL
  ENST00000675463 UniProtKB/TrEMBL
  ENST00000675472 UniProtKB/TrEMBL
  ENST00000675560 UniProtKB/TrEMBL
  ENST00000675625 UniProtKB/TrEMBL
  ENST00000675633 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000675661 UniProtKB/TrEMBL
  ENST00000675821 UniProtKB/TrEMBL
  ENST00000675832 UniProtKB/TrEMBL
  ENST00000675928 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000675944 UniProtKB/Swiss-Prot
  ENST00000675999 UniProtKB/TrEMBL
  ENST00000676049 UniProtKB/TrEMBL
  ENST00000676112 UniProtKB/TrEMBL
  ENST00000676120 UniProtKB/TrEMBL
  ENST00000676143 UniProtKB/TrEMBL
  ENST00000676207 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000676377 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000676415 UniProtKB/TrEMBL
  ENST00000676443 UniProtKB/TrEMBL
Gene3D-CATH 3.40.30.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000104381 GTEx
HGNC ID HGNC:15968 ENTREZGENE
Human Proteome Map GDAP1 Human Proteome Map
InterPro GDAP1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glutathione-S-Trfase_C-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glutathione-S-Trfase_C_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glutathione_S-Trfase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glutathione_S-Trfase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Thioredoxin-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:54332 UniProtKB/Swiss-Prot
NCBI Gene 54332 ENTREZGENE
OMIM 214400 OMIM
  606598 OMIM
  607706 OMIM
  607831 OMIM
  608340 OMIM
PANTHER PTHR44188:SF3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam GST_N UniProtKB/TrEMBL
  GST_N_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28626 PharmGKB
PROSITE GST_CTER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GST_NTER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47616 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52833 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A6Q8PEX8_HUMAN UniProtKB/TrEMBL
  A0A6Q8PEZ4_HUMAN UniProtKB/TrEMBL
  A0A6Q8PF20_HUMAN UniProtKB/TrEMBL
  A0A6Q8PFF4_HUMAN UniProtKB/TrEMBL
  A0A6Q8PFG4_HUMAN UniProtKB/TrEMBL
  A0A6Q8PFP5_HUMAN UniProtKB/TrEMBL
  A0A6Q8PFU1_HUMAN UniProtKB/TrEMBL
  A0A6Q8PFX7_HUMAN UniProtKB/TrEMBL
  A0A6Q8PFZ0_HUMAN UniProtKB/TrEMBL
  A0A6Q8PG78_HUMAN UniProtKB/TrEMBL
  A0A6Q8PGB8_HUMAN UniProtKB/TrEMBL
  A0A6Q8PGL3_HUMAN UniProtKB/TrEMBL
  A0A6Q8PGQ9_HUMAN UniProtKB/TrEMBL
  A0A6Q8PGS2_HUMAN UniProtKB/TrEMBL
  A0A6Q8PGU0_HUMAN UniProtKB/TrEMBL
  A0A6Q8PH79_HUMAN UniProtKB/TrEMBL
  A0A6Q8PH88_HUMAN UniProtKB/TrEMBL
  A0A6Q8PH97_HUMAN UniProtKB/TrEMBL
  A0A6Q8PHC1_HUMAN UniProtKB/TrEMBL
  A0A6Q8PHN7_HUMAN UniProtKB/TrEMBL
  B4DIH2_HUMAN UniProtKB/TrEMBL
  E5RGI2_HUMAN UniProtKB/TrEMBL
  E7FJF5_HUMAN UniProtKB/TrEMBL
  GDAP1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A8K957 UniProtKB/Swiss-Prot
  E7FJF3 UniProtKB/Swiss-Prot
  E7FJF4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-04 GDAP1  ganglioside induced differentiation associated protein 1  CMT4A  Charcot-Marie-Tooth neuropathy 4A  Data Merged 737654 PROVISIONAL
2012-03-01 GDAP1  ganglioside induced differentiation associated protein 1  GDAP1  ganglioside induced differentiation associated protein 1  Symbol and/or name change 5135510 APPROVED
2012-02-14 GDAP1  ganglioside induced differentiation associated protein 1  GDAP1  ganglioside-induced differentiation-associated protein 1  Symbol and/or name change 5135510 APPROVED
2011-08-16 GDAP1  ganglioside-induced differentiation-associated protein 1  GDAP1  ganglioside-induced differentiation-associated protein 1  Symbol and/or name change 5135510 APPROVED