EGR2 (early growth response 2) - Rat Genome Database

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Gene: EGR2 (early growth response 2) Homo sapiens
Analyze
Symbol: EGR2
Name: early growth response 2
RGD ID: 1352442
HGNC Page HGNC
Description: Enables DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and ubiquitin protein ligase binding activity. Involved in positive regulation of transcription by RNA polymerase II. Located in nucleoplasm. Implicated in Charcot-Marie-Tooth disease type 1D; Charcot-Marie-Tooth disease type 3; Charcot-Marie-Tooth disease type 4E; and motor peripheral neuropathy.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AT591; CHN1; CMT1D; CMT4E; DKFZp686J1957; E3 SUMO-protein ligase EGR2; E3 SUMO-protein transferase ERG2; early growth response protein 2; EGR-2; FLJ14547; Krox-20 homolog, Drosophila; KROX-20, Drosophila, homolog (early growth response-2); KROX20; zinc finger protein Krox-20
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 Ensembl1062,811,996 - 62,919,900 (-)EnsemblGRCh38hg38GRCh38
GRCh381062,811,996 - 62,819,167 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371064,571,756 - 64,578,927 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361064,241,763 - 64,246,133 (-)NCBINCBI36hg18NCBI36
Build 341064,241,762 - 64,246,133NCBI
Celera1057,839,025 - 57,846,195 (-)NCBI
Cytogenetic Map10q21.3NCBI
HuRef1058,563,537 - 58,570,711 (-)NCBIHuRef
CHM1_11064,853,748 - 64,860,918 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-pilocarpine  (ISO)
(-)-demecolcine  (EXP)
(S)-nicotine  (ISO)
1,2-dimethylhydrazine  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-(4-iodo-2,5-dimethoxyphenyl)-1-methylethylamine  (ISO)
2-butoxyethanol  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-methylcholanthrene  (ISO)
3alpha-hydroxy-5beta-pregnan-20-one  (ISO)
4-(ethoxymethylene)-2-phenyloxazol-5-one  (EXP)
5-azacytidine  (EXP)
5alpha-pregnane-3,20-dione  (ISO)
7,12-dimethyltetraphene  (ISO)
8-Br-cAMP  (EXP)
acetamide  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP,ISO)
amiodarone  (EXP)
ammonium chloride  (ISO)
aripiprazole  (ISO)
aristolochic acid  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
atropine  (ISO)
azathioprine  (EXP)
baicalein  (ISO)
bathocuproine disulfonic acid  (EXP)
bazedoxifene  (EXP)
benzene  (EXP,ISO)
benzo[a]pyrene  (EXP,ISO)
beryllium sulfate  (EXP)
bis(2-chloroethyl) sulfide  (ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (ISO)
bleomycin A2  (ISO)
bortezomib  (ISO)
bucladesine  (EXP)
butanal  (EXP)
C.I. Natural Red 20  (ISO)
cadmium atom  (EXP)
Calcimycin  (ISO)
carbon nanotube  (ISO)
cefaloridine  (ISO)
cerium trichloride  (ISO)
chloroprene  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
cisplatin  (EXP,ISO)
clofibrate  (ISO)
clozapine  (ISO)
cocaine  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
crocidolite asbestos  (EXP,ISO)
Cuprizon  (ISO)
cycloheximide  (EXP)
cyclophosphamide  (ISO)
cyclosporin A  (EXP,ISO)
cyproconazole  (ISO)
DDT  (ISO)
dexamethasone  (EXP,ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dichloroacetic acid  (ISO)
dieldrin  (EXP)
diethylstilbestrol  (ISO)
dioxygen  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
endosulfan  (ISO)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
eugenol  (EXP)
ferric oxide  (ISO)
fluoranthene  (ISO)
flusilazole  (ISO)
folic acid  (ISO)
formaldehyde  (EXP,ISO)
furan  (ISO)
haloperidol  (ISO)
hydrogen peroxide  (EXP)
ionomycin  (EXP)
L-methionine  (ISO)
lead diacetate  (ISO)
manganese(II) chloride  (ISO)
medroxyprogesterone acetate  (EXP)
methamphetamine  (ISO)
methoxychlor  (ISO)
methylisothiazolinone  (EXP)
methylmercury chloride  (EXP,ISO)
Monobutylphthalate  (ISO)
morphine  (ISO)
N-acetyl-L-cysteine  (EXP)
N-methyl-4-phenylpyridinium  (ISO)
N-Nitrosopyrrolidine  (EXP)
naphthalene  (ISO)
nicotine  (ISO)
nicotinic acid  (ISO)
oxaliplatin  (ISO)
ozone  (ISO)
p-chloromercuribenzoic acid  (EXP)
palytoxin  (ISO)
paracetamol  (EXP,ISO)
pentanal  (EXP)
pentane-2,3-dione  (ISO)
phenobarbital  (ISO)
phorbol 13-acetate 12-myristate  (EXP)
phosgene  (ISO)
pirenzepine  (ISO)
pirinixic acid  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (EXP,ISO)
propanal  (EXP)
pyrrolidine dithiocarbamate  (EXP)
quercetin  (EXP)
quercitrin  (EXP)
rifampicin  (EXP)
risperidone  (ISO)
SB 431542  (EXP)
SCH 23390  (ISO)
scopolamine  (ISO)
sevoflurane  (ISO)
Shikonin  (ISO)
silicon dioxide  (EXP,ISO)
silver atom  (EXP,ISO)
silver(0)  (EXP,ISO)
sodium arsenate  (ISO)
sodium arsenite  (EXP)
sodium fluoride  (ISO)
Soman  (ISO)
succimer  (ISO)
sunitinib  (EXP)
tacrolimus hydrate  (ISO)
temozolomide  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
thapsigargin  (ISO)
titanium dioxide  (ISO)
toluene  (ISO)
topotecan  (ISO)
triadimefon  (ISO)
triazoles  (ISO)
tributylstannane  (EXP)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
triptonide  (ISO)
tropan-3alpha-yl 3-hydroxy-2-phenylpropanoate  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
zinc atom  (EXP)
zinc(0)  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:2111009   PMID:2496302   PMID:3140236   PMID:7935840   PMID:8093858   PMID:8702157   PMID:9537424   PMID:10371530   PMID:10762521   PMID:10960786   PMID:11239949   PMID:11523566  
PMID:11545686   PMID:11835375   PMID:11909874   PMID:12471219   PMID:12477932   PMID:12560487   PMID:12609493   PMID:12687019   PMID:12736090   PMID:14532282   PMID:14596916   PMID:14702039  
PMID:15164054   PMID:15173177   PMID:15241803   PMID:15489334   PMID:15947997   PMID:16169070   PMID:16198564   PMID:16344560   PMID:16495311   PMID:16582099   PMID:16912585   PMID:17717711  
PMID:18678671   PMID:19000991   PMID:19274049   PMID:19453261   PMID:19592273   PMID:19651900   PMID:20067763   PMID:20144677   PMID:20194224   PMID:20301384   PMID:20301532   PMID:20301641  
PMID:20379146   PMID:20398657   PMID:20506119   PMID:20513111   PMID:20628624   PMID:20687139   PMID:21042708   PMID:21057508   PMID:21479245   PMID:21514423   PMID:21703609   PMID:21836637  
PMID:21873635   PMID:21988832   PMID:22089088   PMID:22271166   PMID:22327514   PMID:22522483   PMID:22546699   PMID:22691714   PMID:22734907   PMID:22765307   PMID:22832960   PMID:22915601  
PMID:23042114   PMID:23485457   PMID:23747400   PMID:23924943   PMID:24007274   PMID:24952347   PMID:25108386   PMID:25381473   PMID:25548232   PMID:25613138   PMID:25935837   PMID:26119399  
PMID:26186194   PMID:26204789   PMID:26214589   PMID:26238942   PMID:26718337   PMID:26871637   PMID:27667480   PMID:27856665   PMID:27890615   PMID:28115575   PMID:28473536   PMID:28514442  
PMID:28542387   PMID:28576496   PMID:29535721   PMID:29987050   PMID:31298399   PMID:31692087   PMID:32296183   PMID:32393512   PMID:32432752   PMID:32507977   PMID:32672815   PMID:32896048  
PMID:33023539   PMID:33547862   PMID:33692344  


Genomics

Comparative Map Data
EGR2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1062,811,996 - 62,919,900 (-)EnsemblGRCh38hg38GRCh38
GRCh381062,811,996 - 62,819,167 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371064,571,756 - 64,578,927 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361064,241,763 - 64,246,133 (-)NCBINCBI36hg18NCBI36
Build 341064,241,762 - 64,246,133NCBI
Celera1057,839,025 - 57,846,195 (-)NCBI
Cytogenetic Map10q21.3NCBI
HuRef1058,563,537 - 58,570,711 (-)NCBIHuRef
CHM1_11064,853,748 - 64,860,918 (-)NCBICHM1_1
Egr2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391067,370,334 - 67,383,354 (+)NCBIGRCm39mm39
GRCm39 Ensembl1067,371,305 - 67,378,018 (+)Ensembl
GRCm381067,534,469 - 67,542,188 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1067,535,475 - 67,542,188 (+)EnsemblGRCm38mm10GRCm38
MGSCv371067,000,617 - 67,004,936 (+)NCBIGRCm37mm9NCBIm37
MGSCv361066,933,235 - 66,937,545 (+)NCBImm8
Celera1068,629,352 - 68,633,671 (+)NCBICelera
Cytogenetic Map10B5.1NCBI
cM Map1034.96NCBI
Egr2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.22021,051,270 - 21,056,322 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl2021,051,277 - 21,055,562 (-)Ensembl
Rnor_6.02022,452,170 - 22,461,018 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2022,454,463 - 22,459,025 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02024,551,935 - 24,556,227 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42021,883,885 - 21,888,177 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.12021,897,685 - 21,901,977 (-)NCBI
Celera2022,412,625 - 22,416,917 (-)NCBICelera
Cytogenetic Map20p11NCBI
Egr2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542516,055,748 - 16,060,048 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542516,055,748 - 16,068,429 (-)NCBIChiLan1.0ChiLan1.0
EGR2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11061,648,364 - 61,652,846 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1061,648,364 - 61,652,846 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01059,320,073 - 59,326,869 (-)NCBIMhudiblu_PPA_v0panPan3
EGR2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1414,705,384 - 14,810,130 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl414,706,600 - 14,709,497 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha414,923,311 - 15,027,362 (-)NCBI
ROS_Cfam_1.0414,969,904 - 15,074,026 (-)NCBI
UMICH_Zoey_3.1414,952,564 - 15,056,593 (-)NCBI
UNSW_CanFamBas_1.0415,077,597 - 15,181,626 (-)NCBI
UU_Cfam_GSD_1.0415,433,193 - 15,537,238 (-)NCBI
Egr2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721366,381,281 - 66,388,026 (+)NCBI
SpeTri2.0NW_0049367531,958,250 - 1,962,640 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
EGR2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1466,284,577 - 66,291,306 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11466,280,665 - 66,291,308 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21471,516,963 - 71,523,663 (-)NCBISscrofa10.2Sscrofa10.2susScr3
Pig Cytomap14q23-q25NCBI
EGR2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1968,472,640 - 68,479,612 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl968,475,102 - 68,479,595 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604829,356,837 - 29,363,580 (+)NCBIVero_WHO_p1.0
Egr2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624791953,009 - 959,656 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
GDB:193860  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371064,572,414 - 64,572,535UniSTSGRCh37
Build 361064,242,420 - 64,242,541RGDNCBI36
Celera1057,839,682 - 57,839,803RGD
Cytogenetic Map10q21.1UniSTS
HuRef1058,564,194 - 58,564,315UniSTS
EGR2_611  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371064,572,753 - 64,573,615UniSTSGRCh37
Build 361064,242,759 - 64,243,621RGDNCBI36
Celera1057,840,021 - 57,840,883RGD
HuRef1058,564,533 - 58,565,395UniSTS
RH1580  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371064,572,747 - 64,572,963UniSTSGRCh37
Build 361064,242,753 - 64,242,969RGDNCBI36
Celera1057,840,015 - 57,840,231RGD
Cytogenetic Map10q21.1UniSTS
HuRef1058,564,527 - 58,564,743UniSTS
GeneMap99-GB4 RH Map10365.81UniSTS
NCBI RH Map10751.8UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR150hsa-miR-150-5pMirtarbaseexternal_infoLuciferase reporter assay//semi-qRT-PCR//Western bFunctional MTI20067763
MIR150hsa-miR-150-5pMirecordsexternal_info{changed}NA20067763
MIR150hsa-miR-150-5pOncomiRDBexternal_infoNANA20067763

Predicted Target Of
Summary Value
Count of predictions:2338
Count of miRNA genes:671
Interacting mature miRNAs:758
Transcripts:ENST00000242480, ENST00000411732, ENST00000439032, ENST00000493899
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
High
Medium 123 307 415 37 524 29 1542 91 834 54 213 522 10 257 995
Low 1931 1947 1094 431 784 287 2230 1300 1811 297 1107 933 150 900 1260 2
Below cutoff 374 711 212 152 598 147 577 795 1065 62 126 123 14 1 47 526 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001136177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001136178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001136179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011539427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF139463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL357125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD370447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ834156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ834160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA581108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB242561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI574260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J04076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT583897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X53700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000242480   ⟹   ENSP00000242480
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1062,811,996 - 62,816,366 (-)Ensembl
RefSeq Acc Id: ENST00000411732   ⟹   ENSP00000387634
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1062,812,000 - 62,816,315 (-)Ensembl
RefSeq Acc Id: ENST00000439032   ⟹   ENSP00000402040
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1062,812,023 - 62,816,031 (-)Ensembl
RefSeq Acc Id: ENST00000493899
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1062,814,433 - 62,919,900 (-)Ensembl
RefSeq Acc Id: ENST00000637191   ⟹   ENSP00000490154
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1062,814,220 - 62,816,366 (-)Ensembl
RefSeq Acc Id: ENST00000639815
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1062,811,996 - 62,816,275 (-)Ensembl
RefSeq Acc Id: NM_000399   ⟹   NP_000390
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381062,811,996 - 62,816,366 (-)NCBI
GRCh371064,571,756 - 64,578,927 (-)ENTREZGENE
Build 361064,241,763 - 64,246,133 (-)NCBI Archive
HuRef1058,563,537 - 58,570,711 (-)ENTREZGENE
CHM1_11064,853,748 - 64,858,131 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001136177   ⟹   NP_001129649
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381062,811,996 - 62,816,366 (-)NCBI
GRCh371064,571,756 - 64,578,927 (-)ENTREZGENE
HuRef1058,563,537 - 58,570,711 (-)ENTREZGENE
CHM1_11064,853,748 - 64,858,131 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001136178   ⟹   NP_001129650
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381062,811,996 - 62,819,167 (-)NCBI
GRCh371064,571,756 - 64,578,927 (-)ENTREZGENE
HuRef1058,563,537 - 58,570,711 (-)ENTREZGENE
CHM1_11064,853,748 - 64,860,918 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001136179   ⟹   NP_001129651
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381062,811,996 - 62,816,366 (-)NCBI
GRCh371064,571,756 - 64,578,927 (-)ENTREZGENE
HuRef1058,563,537 - 58,570,711 (-)ENTREZGENE
CHM1_11064,853,748 - 64,858,131 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321037   ⟹   NP_001307966
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381062,811,996 - 62,816,366 (-)NCBI
CHM1_11064,853,748 - 64,858,131 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011539427   ⟹   XP_011537729
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381062,811,996 - 62,818,654 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001129650   ⟸   NM_001136178
- Peptide Label: isoform a
- UniProtKB: P11161 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001129649   ⟸   NM_001136177
- Peptide Label: isoform a
- UniProtKB: P11161 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001129651   ⟸   NM_001136179
- Peptide Label: isoform b
- UniProtKB: P11161 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_000390   ⟸   NM_000399
- Peptide Label: isoform a
- UniProtKB: P11161 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011537729   ⟸   XM_011539427
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001307966   ⟸   NM_001321037
- Peptide Label: isoform b
- UniProtKB: P11161 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000402040   ⟸   ENST00000439032
RefSeq Acc Id: ENSP00000387634   ⟸   ENST00000411732
RefSeq Acc Id: ENSP00000490154   ⟸   ENST00000637191
RefSeq Acc Id: ENSP00000242480   ⟸   ENST00000242480
Protein Domains
C2H2-type   DUF3446

Promoters
RGD ID:7217655
Promoter ID:EPDNEW_H14573
Type:initiation region
Name:EGR2_1
Description:early growth response 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14574  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381062,816,366 - 62,816,426EPDNEW
RGD ID:7217657
Promoter ID:EPDNEW_H14574
Type:multiple initiation site
Name:EGR2_2
Description:early growth response 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14573  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381062,819,228 - 62,819,288EPDNEW
RGD ID:6814470
Promoter ID:HG_XEF:946
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:NM_001085779,   NM_130997
Position:
Human AssemblyChrPosition (strand)Source
Build 361064,243,706 - 64,245,162 (-)MPROMDB
RGD ID:6787521
Promoter ID:HG_KWN:9737
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001136177,   OTTHUMT00000048245,   UC001JMH.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361064,245,676 - 64,247,102 (-)MPROMDB
RGD ID:6787522
Promoter ID:HG_KWN:9738
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   Lymphoblastoid
Transcripts:UC009XPH.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361064,248,246 - 64,248,746 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000399.5(EGR2):c.1244G>A (p.Arg415His) single nucleotide variant not specified [RCV000518023] Chr10:62813394 [GRCh38]
Chr10:64573154 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.912C>A (p.Ala304=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000553246] Chr10:62813726 [GRCh38]
Chr10:64573486 [GRCh37]
Chr10:10q21.3
likely benign
NM_000399.5(EGR2):c.1146T>G (p.Ser382Arg) single nucleotide variant Congenital hypomyelinating neuropathy 1, autosomal recessive [RCV000032121] Chr10:62813492 [GRCh38]
Chr10:64573252 [GRCh37]
Chr10:10q21.3
pathogenic
NM_000399.5(EGR2):c.1147G>T (p.Asp383Tyr) single nucleotide variant Congenital hypomyelinating neuropathy 1, autosomal recessive [RCV000032122] Chr10:62813491 [GRCh38]
Chr10:64573251 [GRCh37]
Chr10:10q21.3
pathogenic
NM_000399.5(EGR2):c.1076G>A (p.Arg359Gln) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789743]|Charcot-Marie-Tooth disease, demyelinating, type 1d [RCV000033900] Chr10:62813562 [GRCh38]
Chr10:64573322 [GRCh37]
Chr10:10q21.3
pathogenic|uncertain significance
NM_000399.5(EGR2):c.1142G>A (p.Arg381His) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789745]|Charcot-Marie-Tooth disease, demyelinating, type 1d [RCV000033901]|Charcot-Marie-Tooth disease, type I [RCV000701335] Chr10:62813496 [GRCh38]
Chr10:64573256 [GRCh37]
Chr10:10q21.3
pathogenic|uncertain significance
NM_000399.5(EGR2):c.1160C>A (p.Thr387Asn) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789747]|Charcot-Marie-Tooth disease, demyelinating, type 1d [RCV000033902]|Charcot-Marie-Tooth disease, type I [RCV001340116] Chr10:62813478 [GRCh38]
Chr10:64573238 [GRCh37]
Chr10:10q21.3
pathogenic|uncertain significance
NM_000399.5(EGR2):c.803T>A (p.Ile268Asn) single nucleotide variant Congenital hypomyelinating neuropathy 1, autosomal recessive [RCV000031897] Chr10:62813835 [GRCh38]
Chr10:64573595 [GRCh37]
Chr10:10q21.3
pathogenic
NM_000399.5(EGR2):c.1225C>T (p.Arg409Trp) single nucleotide variant Charcot-Marie-Tooth disease, demyelinating, type 1d [RCV000018234]|Charcot-Marie-Tooth disease, type I [RCV001049422] Chr10:62813413 [GRCh38]
Chr10:64573173 [GRCh37]
Chr10:10q21.3
pathogenic
NM_000399.5(EGR2):c.1075C>T (p.Arg359Trp) single nucleotide variant Charcot-Marie-Tooth disease [RCV000856959]|Charcot-Marie-Tooth disease, demyelinating, type 1d [RCV000018237]|Charcot-Marie-Tooth disease, type I [RCV000231023]|Dejerine-Sottas disease [RCV000032120]|Dejerine-sottas neuropathy, autosomal dominant [RCV000018236]|not provided [RCV000498897] Chr10:62813563 [GRCh38]
Chr10:64573323 [GRCh37]
Chr10:10q21.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000399.5(EGR2):c.1234G>A (p.Glu412Lys) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001233037]|Dejerine-sottas neuropathy, autosomal dominant [RCV000018238] Chr10:62813404 [GRCh38]
Chr10:64573164 [GRCh37]
Chr10:10q21.3
pathogenic
NM_000399.5(EGR2):c.91C>T (p.Leu31Phe) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000529248] Chr10:62815939 [GRCh38]
Chr10:64575699 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.73A>G (p.Ile25Val) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000552906] Chr10:62815957 [GRCh38]
Chr10:64575717 [GRCh37]
Chr10:10q21.3
uncertain significance
GRCh38/hg38 10q21.2-22.2(chr10:62229688-74468143)x1 copy number loss See cases [RCV000052530] Chr10:62229688..74468143 [GRCh38]
Chr10:63989447..76227901 [GRCh37]
Chr10:63659453..75897907 [NCBI36]
Chr10:10q21.2-22.2
pathogenic
GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1 copy number loss See cases [RCV000052511] Chr10:58436466..74415216 [GRCh38]
Chr10:60196226..76174974 [GRCh37]
Chr10:59866232..75844980 [NCBI36]
Chr10:10q21.1-22.2
pathogenic
GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3 copy number gain See cases [RCV000134848] Chr10:42685306..73715908 [GRCh38]
Chr10:43180754..75475666 [GRCh37]
Chr10:42500760..75145672 [NCBI36]
Chr10:10q11.21-22.2
pathogenic
GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3 copy number gain See cases [RCV000138007] Chr10:50729367..87147204 [GRCh38]
Chr10:52489127..88906961 [GRCh37]
Chr10:52159133..88896941 [NCBI36]
Chr10:10q11.23-23.2
pathogenic
GRCh38/hg38 10q21.1-21.3(chr10:55287177-67558442)x3 copy number gain See cases [RCV000141179] Chr10:55287177..67558442 [GRCh38]
Chr10:57046937..69318200 [GRCh37]
Chr10:56716943..68988206 [NCBI36]
Chr10:10q21.1-21.3
pathogenic
NM_000399.5(EGR2):c.664A>G (p.Met222Val) single nucleotide variant not specified [RCV000203049] Chr10:62813974 [GRCh38]
Chr10:64573734 [GRCh37]
Chr10:10q21.3
uncertain significance
GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3 copy number gain See cases [RCV000142967] Chr10:42112187..67400675 [GRCh38]
Chr10:42607635..69160433 [GRCh37]
Chr10:41927641..68830439 [NCBI36]
Chr10:10q11.21-21.3
pathogenic
GRCh38/hg38 10q21.2-21.3(chr10:60977777-62913465)x3 copy number gain See cases [RCV000143288] Chr10:60977777..62913465 [GRCh38]
Chr10:62737535..64673225 [GRCh37]
Chr10:62407541..64343231 [NCBI36]
Chr10:10q21.2-21.3
uncertain significance
NM_000399.5(EGR2):c.442C>T (p.Pro148Ser) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000797593]|not provided [RCV000175594] Chr10:62814196 [GRCh38]
Chr10:64573956 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.679C>T (p.Pro227Ser) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000798312]|not provided [RCV000175595] Chr10:62813959 [GRCh38]
Chr10:64573719 [GRCh37]
Chr10:10q21.3
uncertain significance
NC_000010.11:g.62902519T>C single nucleotide variant Lung cancer [RCV000109247] Chr10:62902519 [GRCh38]
Chr10:64662279 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.816C>A (p.Thr272=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173471]|Charcot-Marie-Tooth disease, type I [RCV001407299]|not provided [RCV000198437] Chr10:62813822 [GRCh38]
Chr10:64573582 [GRCh37]
Chr10:10q21.3
likely benign
NM_000399.5(EGR2):c.1226G>A (p.Arg409Gln) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000206846]|not provided [RCV000431412]|not specified [RCV000999872] Chr10:62813412 [GRCh38]
Chr10:64573172 [GRCh37]
Chr10:10q21.3
pathogenic|likely pathogenic
NM_000399.5(EGR2):c.1352G>T (p.Gly451Val) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789052]|Charcot-Marie-Tooth disease, demyelinating, type 1d [RCV000988369]|Charcot-Marie-Tooth disease, type I [RCV000203897]|not provided [RCV001549729] Chr10:62813286 [GRCh38]
Chr10:64573046 [GRCh37]
Chr10:10q21.3
benign|likely benign|uncertain significance
NM_000399.5(EGR2):c.1309G>A (p.Ala437Thr) single nucleotide variant not provided [RCV000521478] Chr10:62813329 [GRCh38]
Chr10:64573089 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.1391G>T (p.Gly464Val) single nucleotide variant not provided [RCV000233269] Chr10:62813247 [GRCh38]
Chr10:64573007 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.1303G>C (p.Val435Leu) single nucleotide variant not provided [RCV000756065] Chr10:62813335 [GRCh38]
Chr10:64573095 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.174C>T (p.Gly58=) single nucleotide variant Charcot-Marie-Tooth disease, demyelinating, type 1d [RCV001094068]|Charcot-Marie-Tooth disease, type I [RCV000556157]|not provided [RCV000235368]|not specified [RCV001658081] Chr10:62814464 [GRCh38]
Chr10:64574224 [GRCh37]
Chr10:10q21.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant Charcot-Marie-Tooth disease, demyelinating, type 1d [RCV001094067]|Charcot-Marie-Tooth disease, type I [RCV000527649]|not provided [RCV000235956]|not specified [RCV001658082] Chr10:62814446 [GRCh38]
Chr10:64574206 [GRCh37]
Chr10:10q21.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000399.5(EGR2):c.340A>G (p.Asn114Asp) single nucleotide variant not provided [RCV000236597] Chr10:62814298 [GRCh38]
Chr10:64574058 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.644C>T (p.Thr215Met) single nucleotide variant Charcot-Marie-Tooth disease, demyelinating, type 1d [RCV001094002]|Charcot-Marie-Tooth disease, type I [RCV000236817]|not provided [RCV000858272] Chr10:62813994 [GRCh38]
Chr10:64573754 [GRCh37]
Chr10:10q21.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000399.5(EGR2):c.1151A>G (p.His384Arg) single nucleotide variant not provided [RCV000236912] Chr10:62813487 [GRCh38]
Chr10:64573247 [GRCh37]
Chr10:10q21.3
pathogenic|likely pathogenic
NM_000399.5(EGR2):c.1206C>T (p.Tyr402=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000526447] Chr10:62813432 [GRCh38]
Chr10:64573192 [GRCh37]
Chr10:10q21.3
likely benign
NM_000399.5(EGR2):c.1086A>C (p.Arg362=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173480]|Charcot-Marie-Tooth disease, demyelinating, type 1d [RCV001094001]|Charcot-Marie-Tooth disease, type I [RCV000471277]|not provided [RCV000857428]|not specified [RCV000252598] Chr10:62813552 [GRCh38]
Chr10:64573312 [GRCh37]
Chr10:10q21.3
benign|likely benign
NM_000399.5(EGR2):c.*288G>A single nucleotide variant Charcot-Marie-Tooth disease, demyelinating, type 1d [RCV000398274]|not provided [RCV001549679] Chr10:62812919 [GRCh38]
Chr10:64572679 [GRCh37]
Chr10:10q21.3
benign|likely benign
NM_000399.5(EGR2):c.169+10G>T single nucleotide variant Charcot-Marie-Tooth disease, demyelinating, type 1d [RCV001094069]|Charcot-Marie-Tooth disease, type I [RCV000466073]|not specified [RCV000435418] Chr10:62815851 [GRCh38]
Chr10:64575611 [GRCh37]
Chr10:10q21.3
benign|likely benign
NM_000399.5(EGR2):c.*646C>T single nucleotide variant Charcot-Marie-Tooth disease, demyelinating, type 1d [RCV000400192] Chr10:62812561 [GRCh38]
Chr10:64572321 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_005184.4(CALM3):c.183C>T (p.Asn61=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173475]|Charcot-Marie-Tooth disease, demyelinating, type 1d [RCV001094066]|Charcot-Marie-Tooth disease, type I [RCV000326385]|none provided [RCV001286547]|not provided [RCV001705446] Chr10:62814392 [GRCh38]
Chr10:64574152 [GRCh37]
Chr10:10q21.3
benign|likely benign
NM_000399.5(EGR2):c.*874A>G single nucleotide variant Charcot-Marie-Tooth disease, demyelinating, type 1d [RCV000382555] Chr10:62812333 [GRCh38]
Chr10:64572093 [GRCh37]
Chr10:10q21.3
benign|likely benign
NM_000399.5(EGR2):c.*429G>A single nucleotide variant Charcot-Marie-Tooth disease, demyelinating, type 1d [RCV000336830] Chr10:62812778 [GRCh38]
Chr10:64572538 [GRCh37]
Chr10:10q21.3
benign|likely benign
NM_000399.5(EGR2):c.-1A>G single nucleotide variant Charcot-Marie-Tooth disease [RCV001173479]|Charcot-Marie-Tooth disease, demyelinating, type 1d [RCV000386972] Chr10:62816030 [GRCh38]
Chr10:64575790 [GRCh37]
Chr10:10q21.3
likely benign
NM_000744.7(CHRNA4):c.1227T>C (p.Cys409=) single nucleotide variant Charcot-Marie-Tooth disease, demyelinating, type 1d [RCV000297109]|not provided [RCV001675782] Chr10:62812920 [GRCh38]
Chr10:64572680 [GRCh37]
Chr10:10q21.3
benign|likely benign
NM_000399.5(EGR2):c.-293_-290ACTG[1] microsatellite Charcot-Marie-Tooth disease, type I [RCV000282163] Chr10:62816315..62816318 [GRCh38]
Chr10:64576075..64576078 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.627= (p.Pro209=) single nucleotide variant Charcot-Marie-Tooth disease, demyelinating, type 1d [RCV001660548]|Charcot-Marie-Tooth disease, type I [RCV000860143]|Congenital hypomyelinating neuropathy 1, autosomal recessive [RCV001660549]|Dejerine-Sottas disease [RCV001660547]|not specified [RCV000383101] Chr10:62814011 [GRCh38]
Chr10:64573771 [GRCh37]
Chr10:10q21.3
benign
NM_000399.5(EGR2):c.924C>T (p.Ala308=) single nucleotide variant Charcot-Marie-Tooth disease, demyelinating, type 1d [RCV000265305] Chr10:62813714 [GRCh38]
Chr10:64573474 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.1360T>G (p.Cys454Gly) single nucleotide variant Charcot-Marie-Tooth disease, demyelinating, type 1d [RCV000266335] Chr10:62813278 [GRCh38]
Chr10:64573038 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.541C>T (p.Leu181Phe) single nucleotide variant Charcot-Marie-Tooth disease, demyelinating, type 1d [RCV000268961] Chr10:62814097 [GRCh38]
Chr10:64573857 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.*1028A>G single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000291621] Chr10:62812179 [GRCh38]
Chr10:64571939 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.*1080G>A single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000383615] Chr10:62812127 [GRCh38]
Chr10:64571887 [GRCh37]
Chr10:10q21.3
likely benign
NM_000399.5(EGR2):c.285G>A (p.Lys95=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000638184] Chr10:62814353 [GRCh38]
Chr10:64574113 [GRCh37]
Chr10:10q21.3
likely benign
NM_000399.5(EGR2):c.*814_*816del deletion Charcot-Marie-Tooth disease, type I [RCV000295501] Chr10:62812391..62812393 [GRCh38]
Chr10:64572151..64572153 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.*655G>A single nucleotide variant Charcot-Marie-Tooth disease, demyelinating, type 1d [RCV000352660] Chr10:62812552 [GRCh38]
Chr10:64572312 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.*145T>A single nucleotide variant Charcot-Marie-Tooth disease, demyelinating, type 1d [RCV000354289] Chr10:62813062 [GRCh38]
Chr10:64572822 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.*456G>A single nucleotide variant Charcot-Marie-Tooth disease, demyelinating, type 1d [RCV000313000] Chr10:62812751 [GRCh38]
Chr10:64572511 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.918C>T (p.Ala306=) single nucleotide variant Charcot-Marie-Tooth disease, demyelinating, type 1d [RCV000327671] Chr10:62813720 [GRCh38]
Chr10:64573480 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.*919G>C single nucleotide variant Charcot-Marie-Tooth disease, demyelinating, type 1d [RCV000344257] Chr10:62812288 [GRCh38]
Chr10:64572048 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.9C>T (p.Thr3=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001440319]|not specified [RCV000603331] Chr10:62816021 [GRCh38]
Chr10:64575781 [GRCh37]
Chr10:10q21.3
likely benign
NM_000399.5(EGR2):c.108G>A (p.Val36=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000925286]|not specified [RCV000517146] Chr10:62815922 [GRCh38]
Chr10:64575682 [GRCh37]
Chr10:10q21.3
likely benign|uncertain significance
NM_000399.5(EGR2):c.830G>A (p.Ser277Asn) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000532611] Chr10:62813808 [GRCh38]
Chr10:64573568 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.1207T>G (p.Cys403Gly) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000638182] Chr10:62813431 [GRCh38]
Chr10:64573191 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.1386C>T (p.Gly462=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000638191] Chr10:62813252 [GRCh38]
Chr10:64573012 [GRCh37]
Chr10:10q21.3
likely benign
NM_000399.5(EGR2):c.665T>C (p.Met222Thr) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001079407]|not provided [RCV000734025] Chr10:62813973 [GRCh38]
Chr10:64573733 [GRCh37]
Chr10:10q21.3
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000399.5(EGR2):c.464C>T (p.Ser155Phe) single nucleotide variant not specified [RCV000413410] Chr10:62814174 [GRCh38]
Chr10:64573934 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.457A>C (p.Thr153Pro) single nucleotide variant Charcot-Marie-Tooth disease, demyelinating, type 1d [RCV001108766]|Charcot-Marie-Tooth disease, type I [RCV000540413]|not provided [RCV001356784] Chr10:62814181 [GRCh38]
Chr10:64573941 [GRCh37]
Chr10:10q21.3
likely benign|uncertain significance
GRCh37/hg19 10q21.2-21.3(chr10:63888935-64783617)x3 copy number gain See cases [RCV000447536] Chr10:63888935..64783617 [GRCh37]
Chr10:10q21.2-21.3
uncertain significance
NM_000399.5(EGR2):c.1066G>C (p.Glu356Gln) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000638173]|not provided [RCV000433767] Chr10:62813572 [GRCh38]
Chr10:64573332 [GRCh37]
Chr10:10q21.3
likely pathogenic|uncertain significance
NM_000399.5(EGR2):c.-211T>C single nucleotide variant not specified [RCV000430711] Chr10:62816240 [GRCh38]
Chr10:64576000 [GRCh37]
Chr10:10q21.3
likely benign
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
NM_000399.5(EGR2):c.627A>G (p.Pro209=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000470185]|not specified [RCV001662442] Chr10:62814011 [GRCh38]
Chr10:64573771 [GRCh37]
Chr10:10q21.3
benign|likely benign
NM_000399.5(EGR2):c.1235A>G (p.Glu412Gly) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789746]|Charcot-Marie-Tooth disease, type I [RCV000462944] Chr10:62813403 [GRCh38]
Chr10:64573163 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.1242G>A (p.Lys414=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173239]|not provided [RCV000463792] Chr10:62813396 [GRCh38]
Chr10:64573156 [GRCh37]
Chr10:10q21.3
likely benign
NM_000399.5(EGR2):c.507G>A (p.Pro169=) single nucleotide variant not provided [RCV000456571] Chr10:62814131 [GRCh38]
Chr10:64573891 [GRCh37]
Chr10:10q21.3
likely benign
NM_000399.5(EGR2):c.909A>C (p.Ala303=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000471704]|not specified [RCV000613389] Chr10:62813729 [GRCh38]
Chr10:64573489 [GRCh37]
Chr10:10q21.3
benign|likely benign
NM_000399.5(EGR2):c.222A>G (p.Pro74=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173476]|Charcot-Marie-Tooth disease, type I [RCV000457012] Chr10:62814416 [GRCh38]
Chr10:64574176 [GRCh37]
Chr10:10q21.3
likely benign
NM_000399.5(EGR2):c.*17_*19del deletion not provided [RCV001722392] Chr10:62813188..62813190 [GRCh38]
Chr10:64572948..64572950 [GRCh37]
Chr10:10q21.3
likely benign
NM_000399.5(EGR2):c.910GCC[7] (p.Ala309dup) microsatellite Charcot-Marie-Tooth disease, type I [RCV000546559]|not provided [RCV000482520]|not specified [RCV001662462] Chr10:62813710..62813711 [GRCh38]
Chr10:64573470..64573471 [GRCh37]
Chr10:10q21.3
benign|uncertain significance
NM_000399.5(EGR2):c.737G>A (p.Arg246His) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000469568] Chr10:62813901 [GRCh38]
Chr10:64573661 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.897AGC[6] (p.Ala309dup) microsatellite Charcot-Marie-Tooth disease [RCV001173235]|Charcot-Marie-Tooth disease, type I [RCV000545083]|not specified [RCV000482970] Chr10:62813726..62813727 [GRCh38]
Chr10:64573486..64573487 [GRCh37]
Chr10:10q21.3
likely benign|uncertain significance
NM_000399.5(EGR2):c.832G>A (p.Ala278Thr) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001040079]|not provided [RCV000761723] Chr10:62813806 [GRCh38]
Chr10:64573566 [GRCh37]
Chr10:10q21.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000399.5(EGR2):c.308C>T (p.Pro103Leu) single nucleotide variant not provided [RCV000493614] Chr10:62814330 [GRCh38]
Chr10:64574090 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.88G>A (p.Asp30Asn) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000806631]|Inborn genetic diseases [RCV000623193]|not specified [RCV000506567] Chr10:62815942 [GRCh38]
Chr10:64575702 [GRCh37]
Chr10:10q21.3
uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic|uncertain significance
NM_000399.5(EGR2):c.1022C>T (p.Pro341Leu) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000795385]|not provided [RCV000493025] Chr10:62813616 [GRCh38]
Chr10:64573376 [GRCh37]
Chr10:10q21.3
uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
NM_000399.5(EGR2):c.540C>T (p.Asp180=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000638188] Chr10:62814098 [GRCh38]
Chr10:64573858 [GRCh37]
Chr10:10q21.3
likely benign
NM_000399.5(EGR2):c.96C>T (p.Ala32=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000638195] Chr10:62815934 [GRCh38]
Chr10:64575694 [GRCh37]
Chr10:10q21.3
likely benign
NM_000399.5(EGR2):c.1277G>A (p.Arg426Gln) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000638151] Chr10:62813361 [GRCh38]
Chr10:64573121 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.1399G>C (p.Ala467Pro) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001088111]|not provided [RCV000839675] Chr10:62813239 [GRCh38]
Chr10:64572999 [GRCh37]
Chr10:10q21.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_000399.5(EGR2):c.126C>G (p.Ala42=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000638193] Chr10:62815904 [GRCh38]
Chr10:64575664 [GRCh37]
Chr10:10q21.3
likely benign
NM_000399.5(EGR2):c.735C>T (p.Asp245=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001428274]|not provided [RCV000638194] Chr10:62813903 [GRCh38]
Chr10:64573663 [GRCh37]
Chr10:10q21.3
likely benign
NM_000399.5(EGR2):c.165C>G (p.Ala55=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001461250]|not provided [RCV000538881] Chr10:62815865 [GRCh38]
Chr10:64575625 [GRCh37]
Chr10:10q21.3
likely benign
NM_000399.5(EGR2):c.534A>G (p.Ala178=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000871868]|not provided [RCV001698400] Chr10:62814104 [GRCh38]
Chr10:64573864 [GRCh37]
Chr10:10q21.3
benign|likely benign
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3
drug response
NM_000399.5(EGR2):c.539A>C (p.Asp180Ala) single nucleotide variant not provided [RCV000512670] Chr10:62814099 [GRCh38]
Chr10:64573859 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.1084C>T (p.Arg362Ter) single nucleotide variant Charcot-Marie-Tooth disease, demyelinating, type 1d [RCV000662198]|Congenital hypomyelinating neuropathy 1, autosomal recessive [RCV000662197]|Dejerine-Sottas disease [RCV000662196] Chr10:62813554 [GRCh38]
Chr10:64573314 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.200AGA[3] (p.Lys68dup) microsatellite Charcot-Marie-Tooth disease, type I [RCV000701937] Chr10:62814432..62814433 [GRCh38]
Chr10:64574192..64574193 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.826C>A (p.Pro276Thr) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001039329]|none provided [RCV001289862]|not provided [RCV000711601] Chr10:62813812 [GRCh38]
Chr10:64573572 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.560C>A (p.Ala187Glu) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000699471] Chr10:62814078 [GRCh38]
Chr10:64573838 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.670C>A (p.Pro224Thr) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000701472]|not provided [RCV001288963] Chr10:62813968 [GRCh38]
Chr10:64573728 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.74T>A (p.Ile25Asn) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000707709] Chr10:62815956 [GRCh38]
Chr10:64575716 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.1118G>A (p.Arg373Gln) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000705915] Chr10:62813520 [GRCh38]
Chr10:64573280 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.1066G>A (p.Glu356Lys) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000699774]|not provided [RCV001575460] Chr10:62813572 [GRCh38]
Chr10:64573332 [GRCh37]
Chr10:10q21.3
pathogenic|likely pathogenic
NM_000399.5(EGR2):c.1172C>A (p.Thr391Asn) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000706140] Chr10:62813466 [GRCh38]
Chr10:64573226 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.1199G>C (p.Cys400Ser) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000690020] Chr10:62813439 [GRCh38]
Chr10:64573199 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.1352G>A (p.Gly451Asp) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173238]|Charcot-Marie-Tooth disease, type I [RCV000691159] Chr10:62813286 [GRCh38]
Chr10:64573046 [GRCh37]
Chr10:10q21.3
likely benign|uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
NM_000399.5(EGR2):c.840G>C (p.Val280=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000862903]|not provided [RCV001310925] Chr10:62813798 [GRCh38]
Chr10:64573558 [GRCh37]
Chr10:10q21.3
likely benign
NM_014053.4(FLVCR1):c.663C>T (p.Pro221=) single nucleotide variant not provided [RCV001645448] Chr10:62819299 [GRCh38]
Chr10:64579059 [GRCh37]
Chr10:10q21.3
benign
NM_000399.5(EGR2):c.1020C>T (p.Tyr340=) single nucleotide variant not provided [RCV000991955] Chr10:62813618 [GRCh38]
Chr10:64573378 [GRCh37]
Chr10:10q21.3
benign
NM_000399.5(EGR2):c.910GCC[8] (p.Ala308_Ala309dup) microsatellite Charcot-Marie-Tooth disease, type I [RCV001045004] Chr10:62813710..62813711 [GRCh38]
Chr10:64573470..64573471 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.1260C>G (p.His420Gln) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001045093] Chr10:62813378 [GRCh38]
Chr10:64573138 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.1200_1201del (p.Cys400_Asp401delinsTer) microsatellite Charcot-Marie-Tooth disease [RCV000856958] Chr10:62813437..62813438 [GRCh38]
Chr10:64573197..64573198 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.1080C>T (p.His360=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001483678]|not provided [RCV000867029] Chr10:62813558 [GRCh38]
Chr10:64573318 [GRCh37]
Chr10:10q21.3
likely benign
NM_000399.5(EGR2):c.500C>T (p.Pro167Leu) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001070072] Chr10:62814138 [GRCh38]
Chr10:64573898 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.1428T>A (p.Pro476=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000861425] Chr10:62813210 [GRCh38]
Chr10:64572970 [GRCh37]
Chr10:10q21.3
likely benign
NM_000399.5(EGR2):c.1395G>A (p.Pro465=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173237]|Charcot-Marie-Tooth disease, type I [RCV001484118]|not provided [RCV000863191] Chr10:62813243 [GRCh38]
Chr10:64573003 [GRCh37]
Chr10:10q21.3
likely benign
NM_000399.5(EGR2):c.941A>C (p.His314Pro) single nucleotide variant Charcot-Marie-Tooth disease [RCV000856960] Chr10:62813697 [GRCh38]
Chr10:64573457 [GRCh37]
Chr10:10q21.3
uncertain significance
GRCh37/hg19 10q21.1-21.3(chr10:56031210-65660398)x1 copy number loss not provided [RCV001006326] Chr10:56031210..65660398 [GRCh37]
Chr10:10q21.1-21.3
pathogenic
NM_000399.5(EGR2):c.625C>A (p.Pro209Thr) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000815853] Chr10:62814013 [GRCh38]
Chr10:64573773 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.947C>T (p.Pro316Leu) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000806454] Chr10:62813691 [GRCh38]
Chr10:64573451 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.293T>C (p.Ile98Thr) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000799778] Chr10:62814345 [GRCh38]
Chr10:64574105 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.1065C>A (p.Asp355Glu) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000823819] Chr10:62813573 [GRCh38]
Chr10:64573333 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.1274_1275del (p.Glu425fs) microsatellite Charcot-Marie-Tooth disease, type I [RCV000800092] Chr10:62813363..62813364 [GRCh38]
Chr10:64573123..64573124 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.163G>T (p.Ala55Ser) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000818326] Chr10:62815867 [GRCh38]
Chr10:64575627 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_001136178.2(EGR2):c.-40-415C>G single nucleotide variant not provided [RCV000835335] Chr10:62816484 [GRCh38]
Chr10:64576244 [GRCh37]
Chr10:10q21.3
likely benign
NM_000399.5(EGR2):c.458C>T (p.Thr153Ile) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000815879] Chr10:62814180 [GRCh38]
Chr10:64573940 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.1064A>T (p.Asp355Val) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789741] Chr10:62813574 [GRCh38]
Chr10:64573334 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.169+204A>G single nucleotide variant not provided [RCV000839759] Chr10:62815657 [GRCh38]
Chr10:64575417 [GRCh37]
Chr10:10q21.3
benign
NM_000399.5(EGR2):c.152T>C (p.Met51Thr) single nucleotide variant Spastic paraplegia [RCV000850328] Chr10:62815878 [GRCh38]
Chr10:64575638 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_001136178.2(EGR2):c.-40-488C>G single nucleotide variant not provided [RCV000829659] Chr10:62816557 [GRCh38]
Chr10:64576317 [GRCh37]
Chr10:10q21.3
benign
NM_000399.5(EGR2):c.139C>G (p.Pro47Ala) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000802851] Chr10:62815891 [GRCh38]
Chr10:64575651 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.1414C>G (p.Arg472Gly) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001043374] Chr10:62813224 [GRCh38]
Chr10:64572984 [GRCh37]
Chr10:10q21.3
uncertain significance
NC_000010.11:g.62819224G>A single nucleotide variant not provided [RCV000839754] Chr10:62819224 [GRCh38]
Chr10:64578984 [GRCh37]
Chr10:10q21.3
benign
NC_000010.11:g.62819222G>T single nucleotide variant not provided [RCV000839755] Chr10:62819222 [GRCh38]
Chr10:64578982 [GRCh37]
Chr10:10q21.3
benign
NM_000399.5(EGR2):c.169+211C>A single nucleotide variant not provided [RCV000839756] Chr10:62815650 [GRCh38]
Chr10:64575410 [GRCh37]
Chr10:10q21.3
benign
NM_000399.5(EGR2):c.1147G>C (p.Asp383His) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789742] Chr10:62813491 [GRCh38]
Chr10:64573251 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.1057C>G (p.Arg353Gly) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789744] Chr10:62813581 [GRCh38]
Chr10:64573341 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.1141C>T (p.Arg381Cys) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789748]|Charcot-Marie-Tooth disease, type I [RCV000815623] Chr10:62813497 [GRCh38]
Chr10:64573257 [GRCh37]
Chr10:10q21.3
pathogenic|uncertain significance
NM_000399.5(EGR2):c.137G>T (p.Gly46Val) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000818159] Chr10:62815893 [GRCh38]
Chr10:64575653 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.915C>A (p.Ala305=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001413861]|not provided [RCV000862358] Chr10:62813723 [GRCh38]
Chr10:64573483 [GRCh37]
Chr10:10q21.3
likely benign
NM_000399.5(EGR2):c.169+261G>C single nucleotide variant not provided [RCV000828861] Chr10:62815600 [GRCh38]
Chr10:64575360 [GRCh37]
Chr10:10q21.3
benign
NM_000399.5(EGR2):c.380C>T (p.Pro127Leu) single nucleotide variant Charcot-Marie-Tooth disease, demyelinating, type 1d [RCV000791192]|Dejerine-Sottas disease [RCV000791193] Chr10:62814258 [GRCh38]
Chr10:64574018 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.801A>T (p.Thr267=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000871512] Chr10:62813837 [GRCh38]
Chr10:64573597 [GRCh37]
Chr10:10q21.3
likely benign
NM_000399.5(EGR2):c.115T>C (p.Phe39Leu) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001066396] Chr10:62815915 [GRCh38]
Chr10:64575675 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.601G>T (p.Ala201Ser) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001231456] Chr10:62814037 [GRCh38]
Chr10:64573797 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.428C>A (p.Pro143Gln) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001066711] Chr10:62814210 [GRCh38]
Chr10:64573970 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.1198T>A (p.Cys400Ser) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001224254] Chr10:62813440 [GRCh38]
Chr10:64573200 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.74T>C (p.Ile25Thr) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001209456] Chr10:62815956 [GRCh38]
Chr10:64575716 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.379C>G (p.Pro127Ala) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001206750] Chr10:62814259 [GRCh38]
Chr10:64574019 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.1183G>C (p.Glu395Gln) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173233] Chr10:62813455 [GRCh38]
Chr10:64573215 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.594_596dup (p.Ser199dup) duplication Charcot-Marie-Tooth disease, type I [RCV001219135] Chr10:62814041..62814042 [GRCh38]
Chr10:64573801..64573802 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.-299G>A single nucleotide variant Charcot-Marie-Tooth disease, demyelinating, type 1d [RCV001103607] Chr10:62816328 [GRCh38]
Chr10:64576088 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.*79C>A single nucleotide variant Charcot-Marie-Tooth disease, demyelinating, type 1d [RCV001106594] Chr10:62813128 [GRCh38]
Chr10:64572888 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.364C>T (p.Gln122Ter) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001212327] Chr10:62814274 [GRCh38]
Chr10:64574034 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_032043.3(BRIP1):c.1795-12_1795-10del single nucleotide variant not provided [RCV001717542] Chr10:62818723 [GRCh38]
Chr10:64578483 [GRCh37]
Chr10:10q21.3
benign
null single nucleotide variant not provided [RCV001690212] Chr10:62819228 [GRCh38]
Chr10:64578988 [GRCh37]
Chr10:10q21.3
benign
NM_000399.5(EGR2):c.369G>A (p.Gly123=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001486248]|not provided [RCV000975489] Chr10:62814269 [GRCh38]
Chr10:64574029 [GRCh37]
Chr10:10q21.3
likely benign
NM_000399.5(EGR2):c.471C>T (p.Thr157=) single nucleotide variant not provided [RCV000943421] Chr10:62814167 [GRCh38]
Chr10:64573927 [GRCh37]
Chr10:10q21.3
likely benign
NM_000399.5(EGR2):c.1248C>T (p.His416=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001435525]|not provided [RCV000982589] Chr10:62813390 [GRCh38]
Chr10:64573150 [GRCh37]
Chr10:10q21.3
likely benign
NM_000399.5(EGR2):c.1339G>T (p.Val447Leu) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001207188] Chr10:62813299 [GRCh38]
Chr10:64573059 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.1214G>T (p.Arg405Leu) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001239007] Chr10:62813424 [GRCh38]
Chr10:64573184 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.721A>G (p.Thr241Ala) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001245127] Chr10:62813917 [GRCh38]
Chr10:64573677 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.154A>C (p.Asn52His) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001243623] Chr10:62815876 [GRCh38]
Chr10:64575636 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.1081A>G (p.Ile361Val) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001220283] Chr10:62813557 [GRCh38]
Chr10:64573317 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.719G>T (p.Gly240Val) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001234534] Chr10:62813919 [GRCh38]
Chr10:64573679 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.953G>C (p.Arg318Pro) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001224920] Chr10:62813685 [GRCh38]
Chr10:64573445 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.711C>A (p.Asp237Glu) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001048475] Chr10:62813927 [GRCh38]
Chr10:64573687 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.922G>A (p.Ala308Thr) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001228063] Chr10:62813716 [GRCh38]
Chr10:64573476 [GRCh37]
Chr10:10q21.3
uncertain significance
GRCh37/hg19 10q11.23-21.3(chr10:50250603-69256083)x1 copy number loss not provided [RCV001006319] Chr10:50250603..69256083 [GRCh37]
Chr10:10q11.23-21.3
pathogenic
GRCh37/hg19 10q21.2-21.3(chr10:62191184-65348431)x1 copy number loss not provided [RCV001006330] Chr10:62191184..65348431 [GRCh37]
Chr10:10q21.2-21.3
uncertain significance
NM_000399.5(EGR2):c.843C>T (p.Thr281=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173470] Chr10:62813795 [GRCh38]
Chr10:64573555 [GRCh37]
Chr10:10q21.3
likely benign
NM_000399.5(EGR2):c.222A>C (p.Pro74=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173477] Chr10:62814416 [GRCh38]
Chr10:64574176 [GRCh37]
Chr10:10q21.3
likely benign
NM_000399.5(EGR2):c.938A>G (p.His313Arg) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173234] Chr10:62813700 [GRCh38]
Chr10:64573460 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.789T>C (p.Thr263=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173472] Chr10:62813849 [GRCh38]
Chr10:64573609 [GRCh37]
Chr10:10q21.3
likely benign
NM_000399.5(EGR2):c.645G>A (p.Thr215=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173474]|Charcot-Marie-Tooth disease, type I [RCV001498343] Chr10:62813993 [GRCh38]
Chr10:64573753 [GRCh37]
Chr10:10q21.3
likely benign
NM_000399.5(EGR2):c.210G>A (p.Ser70=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173478] Chr10:62814428 [GRCh38]
Chr10:64574188 [GRCh37]
Chr10:10q21.3
likely benign
NM_000399.5(EGR2):c.733G>A (p.Asp245Asn) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173236]|Charcot-Marie-Tooth disease, type I [RCV001248590]|not provided [RCV001288964] Chr10:62813905 [GRCh38]
Chr10:64573665 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.460A>G (p.Met154Val) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001219768] Chr10:62814178 [GRCh38]
Chr10:64573938 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.1179C>T (p.Thr393=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001406826]|not specified [RCV001002631] Chr10:62813459 [GRCh38]
Chr10:64573219 [GRCh37]
Chr10:10q21.3
likely benign
NM_000399.5(EGR2):c.791C>T (p.Pro264Leu) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001208685] Chr10:62813847 [GRCh38]
Chr10:64573607 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.1231G>A (p.Asp411Asn) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001057831] Chr10:62813407 [GRCh38]
Chr10:64573167 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.769C>T (p.Arg257Trp) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001054021] Chr10:62813869 [GRCh38]
Chr10:64573629 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.1065C>G (p.Asp355Glu) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001236068] Chr10:62813573 [GRCh38]
Chr10:64573333 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.451G>A (p.Val151Met) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001228237] Chr10:62814187 [GRCh38]
Chr10:64573947 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.*618T>C single nucleotide variant Charcot-Marie-Tooth disease, demyelinating, type 1d [RCV001105448] Chr10:62812589 [GRCh38]
Chr10:64572349 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.*230G>T single nucleotide variant Charcot-Marie-Tooth disease, demyelinating, type 1d [RCV001105449] Chr10:62812977 [GRCh38]
Chr10:64572737 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.*150A>G single nucleotide variant Charcot-Marie-Tooth disease, demyelinating, type 1d [RCV001105450] Chr10:62813057 [GRCh38]
Chr10:64572817 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.897AGC[7] (p.Ala308_Ala309dup) microsatellite Charcot-Marie-Tooth disease, type I [RCV001228727]|Congenital hypomyelinating neuropathy 1, autosomal recessive [RCV001263156] Chr10:62813726..62813727 [GRCh38]
Chr10:64573486..64573487 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.1314del (p.Ser439fs) deletion Charcot-Marie-Tooth disease, type I [RCV001214430] Chr10:62813324 [GRCh38]
Chr10:64573084 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.774G>A (p.Val258=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173473] Chr10:62813864 [GRCh38]
Chr10:64573624 [GRCh37]
Chr10:10q21.3
likely benign
NM_000399.5(EGR2):c.-64A>C single nucleotide variant Charcot-Marie-Tooth disease, demyelinating, type 1d [RCV001103606] Chr10:62816093 [GRCh38]
Chr10:64575853 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.1243C>T (p.Arg415Cys) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001040717] Chr10:62813395 [GRCh38]
Chr10:64573155 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.151A>G (p.Met51Val) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001228354] Chr10:62815879 [GRCh38]
Chr10:64575639 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.125C>A (p.Ala42Asp) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001062608] Chr10:62815905 [GRCh38]
Chr10:64575665 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.910GCC[5] (p.Ala309del) microsatellite Charcot-Marie-Tooth disease, type I [RCV001063230] Chr10:62813711..62813713 [GRCh38]
Chr10:64573471..64573473 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.815C>T (p.Thr272Ile) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001203865] Chr10:62813823 [GRCh38]
Chr10:64573583 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.139C>T (p.Pro47Ser) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001048921] Chr10:62815891 [GRCh38]
Chr10:64575651 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.214G>A (p.Asp72Asn) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001342413] Chr10:62814424 [GRCh38]
Chr10:64574184 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.1420C>T (p.Arg474Trp) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001339008] Chr10:62813218 [GRCh38]
Chr10:64572978 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.1402C>T (p.Pro468Ser) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001301449] Chr10:62813236 [GRCh38]
Chr10:64572996 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.868G>A (p.Glu290Lys) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001297421] Chr10:62813770 [GRCh38]
Chr10:64573530 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.1208G>A (p.Cys403Tyr) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001372503] Chr10:62813430 [GRCh38]
Chr10:64573190 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.166G>A (p.Gly56Arg) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001372669] Chr10:62815864 [GRCh38]
Chr10:64575624 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.339C>A (p.Ile113=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001413505] Chr10:62814299 [GRCh38]
Chr10:64574059 [GRCh37]
Chr10:10q21.3
likely benign
NM_000399.5(EGR2):c.805C>T (p.Arg269Cys) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001351918] Chr10:62813833 [GRCh38]
Chr10:64573593 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.1222G>T (p.Ala408Ser) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001309600] Chr10:62813416 [GRCh38]
Chr10:64573176 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.229A>G (p.Ser77Gly) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001365156]|not provided [RCV001575387] Chr10:62814409 [GRCh38]
Chr10:64574169 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.1268A>G (p.Gln423Arg) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001346885] Chr10:62813370 [GRCh38]
Chr10:64573130 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.910GCC[3] (p.Ala307_Ala309del) microsatellite Charcot-Marie-Tooth disease, type I [RCV001324209] Chr10:62813711..62813719 [GRCh38]
Chr10:64573471..64573479 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.508CCT[5] (p.Pro173dup) microsatellite Charcot-Marie-Tooth disease, type I [RCV001347309] Chr10:62814118..62814119 [GRCh38]
Chr10:64573878..64573879 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.1379del (p.Ser460fs) deletion Charcot-Marie-Tooth disease, type I [RCV001308019] Chr10:62813259 [GRCh38]
Chr10:64573019 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.1009G>C (p.Glu337Gln) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001372831] Chr10:62813629 [GRCh38]
Chr10:64573389 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.53T>G (p.Val18Gly) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001322483] Chr10:62815977 [GRCh38]
Chr10:64575737 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.206G>A (p.Arg69Lys) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001341566] Chr10:62814432 [GRCh38]
Chr10:64574192 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.608C>T (p.Pro203Leu) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001373077] Chr10:62814030 [GRCh38]
Chr10:64573790 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.718G>A (p.Gly240Ser) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001359884] Chr10:62813920 [GRCh38]
Chr10:64573680 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.1243C>G (p.Arg415Gly) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001318202] Chr10:62813395 [GRCh38]
Chr10:64573155 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.1090_1092dup (p.His364dup) duplication Charcot-Marie-Tooth disease, type I [RCV001325232] Chr10:62813545..62813546 [GRCh38]
Chr10:64573305..64573306 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.1319C>T (p.Thr440Ile) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001366106] Chr10:62813319 [GRCh38]
Chr10:64573079 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.278T>G (p.Met93Arg) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001370773] Chr10:62814360 [GRCh38]
Chr10:64574120 [GRCh37]
Chr10:10q21.3
uncertain significance
NM_000399.5(EGR2):c.1320A>T (p.Thr440=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001442406] Chr10:62813318 [GRCh38]
Chr10:64573078 [GRCh37]
Chr10:10q21.3
likely benign
NM_000399.5(EGR2):c.669C>A (p.Ile223=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001492995] Chr10:62813969 [GRCh38]
Chr10:64573729 [GRCh37]
Chr10:10q21.3
likely benign
NM_000399.5(EGR2):c.130C>T (p.Leu44=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001491816] Chr10:62815900 [GRCh38]
Chr10:64575660 [GRCh37]
Chr10:10q21.3
likely benign
NM_000399.5(EGR2):c.480C>T (p.Asp160=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001456704] Chr10:62814158 [GRCh38]
Chr10:64573918 [GRCh37]
Chr10:10q21.3
likely benign
NM_000399.5(EGR2):c.198A>C (p.Gly66=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001409463]|not provided [RCV001569435] Chr10:62814440 [GRCh38]
Chr10:64574200 [GRCh37]
Chr10:10q21.3
likely benign
NM_000399.5(EGR2):c.1191C>T (p.Pro397=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001419184] Chr10:62813447 [GRCh38]
Chr10:64573207 [GRCh37]
Chr10:10q21.3
likely benign
NM_000399.5(EGR2):c.129A>G (p.Glu43=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001408453] Chr10:62815901 [GRCh38]
Chr10:64575661 [GRCh37]
Chr10:10q21.3
likely benign
NM_000399.5(EGR2):c.567G>A (p.Leu189=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001431660] Chr10:62814071 [GRCh38]
Chr10:64573831 [GRCh37]
Chr10:10q21.3
likely benign
NM_000399.5(EGR2):c.170-4C>G single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001400231] Chr10:62814472 [GRCh38]
Chr10:64574232 [GRCh37]
Chr10:10q21.3
likely benign
NM_000399.5(EGR2):c.1386C>G (p.Gly462=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001442999] Chr10:62813252 [GRCh38]
Chr10:64573012 [GRCh37]
Chr10:10q21.3
likely benign
NM_000399.5(EGR2):c.1142G>T (p.Arg381Leu) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001389257]|not provided [RCV001562992] Chr10:62813496 [GRCh38]
Chr10:64573256 [GRCh37]
Chr10:10q21.3
pathogenic
NM_000399.5(EGR2):c.684A>T (p.Gly228=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001505765] Chr10:62813954 [GRCh38]
Chr10:64573714 [GRCh37]
Chr10:10q21.3
likely benign
NM_000399.5(EGR2):c.777C>G (p.Pro259=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001452397] Chr10:62813861 [GRCh38]
Chr10:64573621 [GRCh37]
Chr10:10q21.3
likely benign
NM_000399.5(EGR2):c.1231G>T (p.Asp411Tyr) single nucleotide variant not provided [RCV001531688] Chr10:62813407 [GRCh38]
Chr10:64573167 [GRCh37]
Chr10:10q21.3
likely pathogenic
NM_000399.5(EGR2):c.921C>T (p.Ala307=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001457199] Chr10:62813717 [GRCh38]
Chr10:64573477 [GRCh37]
Chr10:10q21.3
likely benign
NM_000399.5(EGR2):c.1044C>T (p.Asp348=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001506080] Chr10:62813594 [GRCh38]
Chr10:64573354 [GRCh37]
Chr10:10q21.3
likely benign
NM_000399.5(EGR2):c.1149C>T (p.Asp383=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001487477] Chr10:62813489 [GRCh38]
Chr10:64573249 [GRCh37]
Chr10:10q21.3
likely benign
NM_000399.5(EGR2):c.210G>C (p.Ser70=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001454740] Chr10:62814428 [GRCh38]
Chr10:64574188 [GRCh37]
Chr10:10q21.3
likely benign
NM_000399.5(EGR2):c.1053C>T (p.Phe351=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001452413] Chr10:62813585 [GRCh38]
Chr10:64573345 [GRCh37]
Chr10:10q21.3
likely benign
NM_000399.5(EGR2):c.772G>C (p.Val258Leu) single nucleotide variant not provided [RCV001508661] Chr10:62813866 [GRCh38]
Chr10:64573626 [GRCh37]
Chr10:10q21.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3239 AgrOrtholog
COSMIC EGR2 COSMIC
Ensembl Genes ENSG00000122877 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000242480 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000387634 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000402040 UniProtKB/Swiss-Prot
  ENSP00000490154 UniProtKB/TrEMBL
Ensembl Transcript ENST00000242480 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000411732 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000439032 UniProtKB/Swiss-Prot
  ENST00000637191 UniProtKB/TrEMBL
GTEx ENSG00000122877 GTEx
HGNC ID HGNC:3239 ENTREZGENE
Human Proteome Map EGR2 Human Proteome Map
InterPro EGR_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1959 UniProtKB/Swiss-Prot
NCBI Gene 1959 ENTREZGENE
OMIM 129010 OMIM
  145900 OMIM
  605253 OMIM
  607678 OMIM
Pfam DUF3446 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-C2H2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27674 PharmGKB
PROSITE ZINC_FINGER_C2H2_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC_FINGER_C2H2_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ZnF_C2H2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF57667 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0S2Z3Q5_HUMAN UniProtKB/TrEMBL
  A0A0S2Z3U4_HUMAN UniProtKB/TrEMBL
  A0A1B0GUL0_HUMAN UniProtKB/TrEMBL
  EGR2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B2R724 UniProtKB/Swiss-Prot
  B3KRD7 UniProtKB/Swiss-Prot
  Q68CZ5 UniProtKB/Swiss-Prot
  Q8IV26 UniProtKB/Swiss-Prot
  Q9UNA6 UniProtKB/Swiss-Prot