GJB1 (gap junction protein beta 1) - Rat Genome Database

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Gene: GJB1 (gap junction protein beta 1) Homo sapiens
Analyze
Symbol: GJB1
Name: gap junction protein beta 1
RGD ID: 732555
HGNC Page HGNC
Description: Predicted to have gap junction channel activity and identical protein binding activity. Predicted to be involved in cell-cell signaling. Predicted to localize to connexin complex and cytoplasm. Implicated in Charcot-Marie-Tooth disease X-linked dominant 1.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CMTX; CMTX1; connexin 32; connexin-32; CX32; GAP junction 28 kDa liver protein; gap junction beta-1 protein; gap junction membrane channel protein beta 1; gap junction protein, beta 1, 32kDa
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 EnsemblX71,215,194 - 71,225,516 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX71,212,811 - 71,225,516 (+)EnsemblGRCh38hg38GRCh38
GRCh38X71,215,239 - 71,225,516 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X70,435,089 - 70,445,366 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X70,351,787 - 70,361,777 (+)NCBINCBI36hg18NCBI36
Build 34X70,226,096 - 70,228,065NCBI
CeleraX70,788,947 - 70,798,946 (+)NCBI
Cytogenetic MapXq13.1NCBI
HuRefX64,252,835 - 64,262,404 (+)NCBIHuRef
CHM1_1X70,328,093 - 70,338,111 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-acetamidofluorene  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP,ISO)
aflatoxin B2  (EXP)
all-trans-retinoic acid  (EXP)
amiodarone  (ISO)
ammonium chloride  (ISO)
atrazine  (ISO)
benzbromarone  (ISO)
benzene  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
benzo[e]pyrene  (EXP)
bis(2-chloroethyl) sulfide  (ISO)
bisphenol A  (EXP,ISO)
buta-1,3-diene  (ISO)
C60 fullerene  (ISO)
carbon nanotube  (ISO)
chlorendic acid  (ISO)
chloroform  (ISO)
cholesterol  (ISO)
choline  (ISO)
chrysene  (ISO)
ciguatoxin CTX1B  (ISO)
ciprofibrate  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
cobalt dichloride  (ISO)
cocaine  (ISO)
copper(II) sulfate  (EXP)
cyclophosphamide  (ISO)
cyclosporin A  (EXP,ISO)
cylindrospermopsin  (EXP)
DDT  (ISO)
dexamethasone  (ISO)
dimethyl sulfoxide  (ISO)
dimethylarsinic acid  (ISO)
elemental selenium  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
fluoranthene  (ISO)
flutamide  (ISO)
folic acid  (EXP,ISO)
fucoxanthin  (EXP)
gliotoxin  (ISO)
hexachlorobenzene  (ISO)
hydrogen peroxide  (EXP)
L-ethionine  (ISO)
L-methionine  (ISO)
linoleic acid  (ISO)
LY294002  (ISO)
malonaldehyde  (ISO)
mercury dichloride  (EXP,ISO)
methapyrilene  (EXP)
methylarsonic acid  (ISO)
N-acetyl-L-cysteine  (ISO)
N-ethyl-N-(2-hydroxyethyl)nitrosamine  (ISO)
N-ethyl-N-nitrosourea  (ISO)
N-methyl-N-nitrosourea  (ISO)
N-nitrosodiethylamine  (ISO)
nickel dichloride  (ISO)
ochratoxin A  (ISO)
oleamide  (EXP)
omeprazole  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
pentachlorophenol  (ISO)
pentobarbital  (ISO)
perfluorononanoic acid  (EXP)
phenanthrene  (ISO)
phenethyl caffeate  (ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
prednisolone  (ISO)
propanal  (EXP)
pyrene  (ISO)
quercetin  (EXP)
SB 203580  (ISO)
selenium atom  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
sodium dodecyl sulfate  (ISO)
tacrolimus hydrate  (ISO)
tamoxifen  (ISO)
tetrachloromethane  (ISO)
tetraphene  (ISO)
thioacetamide  (ISO)
trimethylarsine oxide  (ISO)
urethane  (EXP,ISO)
valproic acid  (EXP)
vancomycin  (ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal cerebral white matter morphology  (IAGP)
Abnormal nerve conduction velocity  (IAGP)
Absent Achilles reflex  (IAGP)
Achilles tendon contracture  (IAGP)
Areflexia  (IAGP)
Ataxia  (IAGP)
Axonal degeneration  (IAGP)
Axonal loss  (IAGP)
Babinski sign  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebellar vermis atrophy  (IAGP)
Clumsiness  (IAGP)
Decreased motor nerve conduction velocity  (IAGP)
Decreased nerve conduction velocity  (IAGP)
Decreased number of peripheral myelinated nerve fibers  (IAGP)
Decreased/absent ankle reflexes  (IAGP)
Difficulty walking  (IAGP)
Distal lower limb amyotrophy  (IAGP)
Distal lower limb muscle weakness  (IAGP)
Distal muscle weakness  (IAGP)
Distal sensory impairment  (IAGP)
Distal upper limb amyotrophy  (IAGP)
Dysarthria  (IAGP)
Dysdiadochokinesis  (IAGP)
Dysmetria  (IAGP)
Dysphagia  (IAGP)
EMG: neuropathic changes  (IAGP)
Excessive daytime somnolence  (IAGP)
Foot dorsiflexor weakness  (IAGP)
Frequent falls  (IAGP)
Gait disturbance  (IAGP)
Hammertoe  (IAGP)
Hand muscle atrophy  (IAGP)
Hand muscle weakness  (IAGP)
Hand tremor  (IAGP)
Hearing impairment  (IAGP)
Hyporeflexia  (IAGP)
Impaired pain sensation  (IAGP)
Incomplete penetrance  (IAGP)
Incoordination  (IAGP)
Intention tremor  (IAGP)
Kyphosis  (IAGP)
Language impairment  (IAGP)
Limb ataxia  (IAGP)
Lower limb hyperreflexia  (IAGP)
Motor aphasia  (IAGP)
Motor delay  (IAGP)
Nystagmus  (IAGP)
Onion bulb formation  (IAGP)
Pain  (IAGP)
Paraparesis  (IAGP)
Peripheral axonal degeneration  (IAGP)
Peripheral neuropathy  (IAGP)
Peroneal muscle atrophy  (IAGP)
Pes cavus  (IAGP)
Progressive cerebellar ataxia  (IAGP)
Progressive distal muscle weakness  (IAGP)
Progressive distal muscular atrophy  (IAGP)
Progressive gait ataxia  (IAGP)
Reduced tendon reflexes  (IAGP)
Saccadic smooth pursuit  (IAGP)
Schizophrenia  (IAGP)
Scoliosis  (IAGP)
Sensorimotor neuropathy  (IAGP)
Sensorineural hearing impairment  (IAGP)
Sensory neuropathy  (IAGP)
Slowly progressive  (IAGP)
Spastic dysarthria  (IAGP)
Spinocerebellar tract degeneration  (IAGP)
Talipes cavus equinovarus  (IAGP)
Toe walking  (IAGP)
Tremor  (IAGP)
Unsteady gait  (IAGP)
X-linked dominant inheritance  (IAGP)
References

Additional References at PubMed
PMID:125246   PMID:1318266   PMID:1319395   PMID:1674715   PMID:2460334   PMID:2875078   PMID:7477983   PMID:7833935   PMID:7971964   PMID:8004109   PMID:8162049   PMID:8266101  
PMID:8390988   PMID:8567789   PMID:8628473   PMID:8698335   PMID:8733054   PMID:8737658   PMID:8757034   PMID:8807343   PMID:8829637   PMID:8842374   PMID:8889549   PMID:8889588  
PMID:8956046   PMID:8990008   PMID:9018031   PMID:9099841   PMID:9184217   PMID:9187667   PMID:9272161   PMID:9361298   PMID:9401007   PMID:9469569   PMID:9592087   PMID:9633821  
PMID:9818870   PMID:9856562   PMID:9888385   PMID:10220155   PMID:10234007   PMID:10581193   PMID:10586284   PMID:10732813   PMID:10737979   PMID:10852921   PMID:10873293   PMID:10894999  
PMID:10923043   PMID:10938190   PMID:11024208   PMID:11030070   PMID:11031247   PMID:11140841   PMID:11180613   PMID:11295246   PMID:11393532   PMID:11437164   PMID:11438991   PMID:11545686  
PMID:11562788   PMID:11571214   PMID:11723288   PMID:11835375   PMID:11891346   PMID:11980479   PMID:12111842   PMID:12205082   PMID:12207932   PMID:12325071   PMID:12362307   PMID:12402337  
PMID:12460545   PMID:12477701   PMID:12477932   PMID:12497641   PMID:12536289   PMID:12542510   PMID:12707076   PMID:12717835   PMID:12775342   PMID:12849984   PMID:14627639   PMID:14663144  
PMID:14688024   PMID:14960772   PMID:15006706   PMID:15192806   PMID:15241803   PMID:15334670   PMID:15383278   PMID:15468313   PMID:15470753   PMID:15489334   PMID:15508871   PMID:15685554  
PMID:15703409   PMID:15704645   PMID:15782139   PMID:15852376   PMID:15947997   PMID:16079393   PMID:16096811   PMID:16344560   PMID:16373087   PMID:16712791   PMID:16790356   PMID:17052905  
PMID:17200131   PMID:17353473   PMID:17372902   PMID:17546509   PMID:17565422   PMID:17569045   PMID:17620124   PMID:17646144   PMID:17714866   PMID:18058801   PMID:18267319   PMID:18292829  
PMID:18353664   PMID:18372303   PMID:18379723   PMID:18396685   PMID:18676375   PMID:18714809   PMID:18717720   PMID:18949782   PMID:19062535   PMID:19259128   PMID:19265674   PMID:19297523  
PMID:19335535   PMID:19369543   PMID:19448103   PMID:19523148   PMID:19550132   PMID:19686581   PMID:19691535   PMID:19864490   PMID:19883623   PMID:20039784   PMID:20128140   PMID:20133984  
PMID:20137634   PMID:20209499   PMID:20301532   PMID:20301548   PMID:20532933   PMID:20628624   PMID:20730878   PMID:20857133   PMID:20931524   PMID:20942588   PMID:21036166   PMID:21082351  
PMID:21103663   PMID:21104867   PMID:21291455   PMID:21478159   PMID:21504505   PMID:21607969   PMID:21687945   PMID:21832049   PMID:21873635   PMID:21918739   PMID:22012769   PMID:22131286  
PMID:22243284   PMID:22445976   PMID:22771394   PMID:22944031   PMID:23011429   PMID:23139176   PMID:23209285   PMID:23279342   PMID:23384994   PMID:23687377   PMID:23743332   PMID:23773993  
PMID:23827825   PMID:24078732   PMID:24119489   PMID:24333598   PMID:24705551   PMID:24768312   PMID:24819634   PMID:25171777   PMID:25206281   PMID:25270527   PMID:25524707   PMID:25548281  
PMID:25583071   PMID:25595958   PMID:25771809   PMID:27098783   PMID:27378082   PMID:27544631   PMID:27804109   PMID:27874032   PMID:28071741   PMID:28260043   PMID:28283593   PMID:28334782  
PMID:28399101   PMID:28412364   PMID:28448691   PMID:28469099   PMID:28492539   PMID:28498415   PMID:28597972   PMID:28601552   PMID:28839434   PMID:28901517   PMID:28902345   PMID:28968929  
PMID:29077882   PMID:29111421   PMID:29236290   PMID:29361528   PMID:29710024   PMID:29790387   PMID:30401746   PMID:30664215   PMID:30737405   PMID:31323543   PMID:31842800   PMID:31943912  
PMID:32296183   PMID:32727784   PMID:32918981  


Genomics

Comparative Map Data
GJB1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX71,215,194 - 71,225,516 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX71,212,811 - 71,225,516 (+)EnsemblGRCh38hg38GRCh38
GRCh38X71,215,239 - 71,225,516 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X70,435,089 - 70,445,366 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X70,351,787 - 70,361,777 (+)NCBINCBI36hg18NCBI36
Build 34X70,226,096 - 70,228,065NCBI
CeleraX70,788,947 - 70,798,946 (+)NCBI
Cytogenetic MapXq13.1NCBI
HuRefX64,252,835 - 64,262,404 (+)NCBIHuRef
CHM1_1X70,328,093 - 70,338,111 (+)NCBICHM1_1
Gjb1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X100,419,982 - 100,429,235 (+)NCBIGRCm39mm39
GRCm39 EnsemblX100,419,984 - 100,429,235 (+)Ensembl
GRCm38X101,376,376 - 101,385,629 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX101,376,378 - 101,385,629 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X98,572,676 - 98,580,964 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X97,580,056 - 97,588,344 (+)NCBImm8
CeleraX88,294,129 - 88,302,410 (+)NCBICelera
Cytogenetic MapXDNCBI
cM MapX44.06NCBI
Gjb1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X66,501,848 - 66,509,783 (+)NCBI
Rnor_6.0 EnsemblX71,272,042 - 71,279,977 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X71,272,030 - 71,279,973 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X72,123,958 - 72,131,901 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X89,448,873 - 89,456,812 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X89,522,360 - 89,530,242 (+)NCBI
CeleraX66,857,755 - 66,865,686 (+)NCBICelera
Cytogenetic MapXq22NCBI
Gjb1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495547510,785,996 - 10,787,910 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495547510,779,415 - 10,787,910 (+)NCBIChiLan1.0ChiLan1.0
GJB1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X70,538,213 - 70,548,917 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX70,547,110 - 70,547,961 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X60,490,579 - 60,492,606 (+)NCBIMhudiblu_PPA_v0panPan3
GJB1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X55,565,995 - 55,575,332 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX55,573,808 - 55,574,659 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX46,392,855 - 46,402,183 (+)NCBI
ROS_Cfam_1.0X56,534,870 - 56,544,201 (+)NCBI
UMICH_Zoey_3.1X54,502,814 - 54,512,141 (+)NCBI
UNSW_CanFamBas_1.0X55,834,274 - 55,843,612 (+)NCBI
UU_Cfam_GSD_1.0X55,761,402 - 55,770,733 (+)NCBI
Gjb1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X46,627,492 - 46,635,864 (-)NCBI
SpeTri2.0NW_004936762389,655 - 398,035 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GJB1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX57,196,999 - 57,249,886 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X57,241,990 - 57,249,496 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X64,844,639 - 64,852,103 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GJB1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X61,013,991 - 61,019,222 (+)NCBI
ChlSab1.1 EnsemblX61,017,716 - 61,018,567 (+)Ensembl
Gjb1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046249031,511,347 - 1,519,265 (+)NCBI

Position Markers
RH1704  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X70,444,159 - 70,444,310UniSTSGRCh37
Build 36X70,360,884 - 70,361,035RGDNCBI36
CeleraX70,798,040 - 70,798,191RGD
Cytogenetic MapXq13.1UniSTS
HuRefX64,261,498 - 64,261,649UniSTS
GeneMap99-GB4 RH MapX236.53UniSTS
NCBI RH MapX372.9UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2332
Count of miRNA genes:812
Interacting mature miRNAs:944
Transcripts:ENST00000361726, ENST00000374022, ENST00000374029, ENST00000447581
Prediction methods:Miranda, Pita, Pita,Targetscan, 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 adipose tissue appendage entire extraembryonic component
High 2 2 2
Medium 719 3 446 536 119 447 617 1735 227 547 48 89 3 534
Low 319 83 138 66 92 3 1266 30 1616 83 349 418 65 76 659 1
Below cutoff 1055 1828 901 11 786 5 1613 1385 233 55 391 874 13 731 1003 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001097642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA041403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL590762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI764356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT019329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB155778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA081668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA262106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L47127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S83322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S83323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X04325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000361726   ⟹   ENSP00000354900
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX71,223,224 - 71,225,516 (+)Ensembl
RefSeq Acc Id: ENST00000374029   ⟹   ENSP00000363141
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX71,215,194 - 71,225,200 (+)Ensembl
RefSeq Acc Id: ENST00000447581   ⟹   ENSP00000407223
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX71,215,259 - 71,223,960 (+)Ensembl
RefSeq Acc Id: ENST00000645009   ⟹   ENSP00000494142
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX71,217,652 - 71,223,995 (+)Ensembl
RefSeq Acc Id: ENST00000646835   ⟹   ENSP00000494596
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX71,215,239 - 71,225,200 (+)Ensembl
RefSeq Acc Id: ENST00000647424   ⟹   ENSP00000495960
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX71,215,212 - 71,225,215 (+)Ensembl
RefSeq Acc Id: ENST00000674549   ⟹   ENSP00000502766
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX71,214,091 - 71,225,516 (+)Ensembl
RefSeq Acc Id: ENST00000674844   ⟹   ENSP00000502556
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX71,212,811 - 71,225,516 (+)Ensembl
RefSeq Acc Id: ENST00000675209   ⟹   ENSP00000501813
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX71,215,186 - 71,225,516 (+)Ensembl
RefSeq Acc Id: ENST00000675368   ⟹   ENSP00000501757
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX71,215,212 - 71,225,516 (+)Ensembl
RefSeq Acc Id: ENST00000675609   ⟹   ENSP00000501571
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX71,215,234 - 71,225,202 (+)Ensembl
RefSeq Acc Id: NM_000166   ⟹   NP_000157
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X71,223,224 - 71,225,516 (+)NCBI
GRCh37X70,435,062 - 70,445,065 (+)ENTREZGENE
Build 36X70,359,781 - 70,361,777 (+)NCBI Archive
HuRefX64,252,835 - 64,262,404 (+)ENTREZGENE
CHM1_1X70,336,102 - 70,338,111 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001097642   ⟹   NP_001091111
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X71,215,239 - 71,225,516 (+)NCBI
GRCh37X70,435,062 - 70,445,065 (+)ENTREZGENE
Build 36X70,351,787 - 70,361,777 (+)NCBI Archive
HuRefX64,252,835 - 64,262,404 (+)ENTREZGENE
CHM1_1X70,328,093 - 70,338,111 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530907   ⟹   XP_011529209
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X71,222,589 - 71,225,202 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001091111   ⟸   NM_001097642
- UniProtKB: P08034 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_000157   ⟸   NM_000166
- UniProtKB: P08034 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011529209   ⟸   XM_011530907
- Peptide Label: isoform X1
- UniProtKB: P08034 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000363141   ⟸   ENST00000374029
RefSeq Acc Id: ENSP00000354900   ⟸   ENST00000361726
RefSeq Acc Id: ENSP00000407223   ⟸   ENST00000447581
RefSeq Acc Id: ENSP00000494142   ⟸   ENST00000645009
RefSeq Acc Id: ENSP00000494596   ⟸   ENST00000646835
RefSeq Acc Id: ENSP00000495960   ⟸   ENST00000647424
RefSeq Acc Id: ENSP00000502556   ⟸   ENST00000674844
RefSeq Acc Id: ENSP00000502766   ⟸   ENST00000674549
RefSeq Acc Id: ENSP00000501571   ⟸   ENST00000675609
RefSeq Acc Id: ENSP00000501757   ⟸   ENST00000675368
RefSeq Acc Id: ENSP00000501813   ⟸   ENST00000675209
Protein Domains
CNX

Promoters
RGD ID:13627406
Promoter ID:EPDNEW_H28978
Type:initiation region
Name:GJB1_1
Description:gap junction protein beta 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28979  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X71,215,239 - 71,215,299EPDNEW
RGD ID:13627408
Promoter ID:EPDNEW_H28979
Type:initiation region
Name:GJB1_2
Description:gap junction protein beta 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28978  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X71,223,224 - 71,223,284EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000166.6(GJB1):c.548G>A (p.Arg183His) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000654852]|Charcot-Marie-Tooth disease [RCV000789837]|not provided [RCV000517827] ChrX:71224255 [GRCh38]
ChrX:70444105 [GRCh37]
ChrX:Xq13.1
pathogenic|uncertain significance
NM_000166.6(GJB1):c.175G>C (p.Gly59Arg) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000654839]|Charcot-Marie-Tooth disease [RCV000789852]|not provided [RCV000516335] ChrX:71223882 [GRCh38]
ChrX:70443732 [GRCh37]
ChrX:Xq13.1
likely pathogenic|uncertain significance
NM_000166.6(GJB1):c.533A>G (p.Asp178Gly) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789925]|not specified [RCV000518316] ChrX:71224240 [GRCh38]
ChrX:70444090 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.242T>A (p.Leu81His) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000542596] ChrX:71223949 [GRCh38]
ChrX:70443799 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.629T>A (p.Val210Glu) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000791594]|not specified [RCV000516944] ChrX:71224336 [GRCh38]
ChrX:70444186 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.574G>T (p.Val192Phe) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789285]|not specified [RCV000517022] ChrX:71224281 [GRCh38]
ChrX:70444131 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.183dup (p.Ser62fs) duplication Charcot-Marie-Tooth Neuropathy X [RCV000549070] ChrX:71223889..71223890 [GRCh38]
ChrX:70443739..70443740 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_000166.6(GJB1):c.304_306del (p.Glu102del) deletion Charcot-Marie-Tooth Neuropathy X [RCV000541816]|Charcot-Marie-Tooth disease [RCV000789859] ChrX:71224011..71224013 [GRCh38]
ChrX:70443861..70443863 [GRCh37]
ChrX:Xq13.1
pathogenic|likely pathogenic|uncertain significance
NM_000166.6(GJB1):c.53C>G (p.Thr18Ser) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000547989] ChrX:71223760 [GRCh38]
ChrX:70443610 [GRCh37]
ChrX:Xq13.1
likely pathogenic|uncertain significance
NM_000166.6(GJB1):c.364_372del (p.Arg122_Lys124del) deletion Charcot-Marie-Tooth Neuropathy X [RCV001211253]|not specified [RCV000517314] ChrX:71224068..71224076 [GRCh38]
ChrX:70443918..70443926 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.423C>G (p.Phe141Leu) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789935]|not provided [RCV000519658] ChrX:71224130 [GRCh38]
ChrX:70443980 [GRCh37]
ChrX:Xq13.1
likely pathogenic|uncertain significance
NM_000166.6(GJB1):c.478T>C (p.Tyr160His) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000544254]|Charcot-Marie-Tooth disease [RCV000789189]|not provided [RCV000516785] ChrX:71224185 [GRCh38]
ChrX:70444035 [GRCh37]
ChrX:Xq13.1
pathogenic|likely pathogenic|uncertain significance
GJB1, 1-BP DEL deletion Charcot-Marie-Tooth Neuropathy X Type 1 [RCV000011185] ChrX:Xq13.1 pathogenic
GJB1, 367G-T single nucleotide variant Charcot-Marie-Tooth Neuropathy X Type 1 [RCV000011188] ChrX:Xq13.1 pathogenic
GJB1, -528T-G single nucleotide variant Charcot-Marie-Tooth Neuropathy X Type 1 [RCV000011190] ChrX:Xq13.1 pathogenic
GJB1, 21-BP DUP duplication Charcot-Marie-Tooth Neuropathy X Type 1 [RCV000011192] ChrX:Xq13.1 pathogenic
GJB1, 3-BP DEL, 304GAG deletion Charcot-Marie-Tooth Neuropathy X Type 1 [RCV000011193] ChrX:Xq13.1 pathogenic
GJB1, -526G-C single nucleotide variant Charcot-Marie-Tooth Neuropathy X Type 1 [RCV000011194] ChrX:Xq13.1 pathogenic
NM_000166.6(GJB1):c.515C>T (p.Pro172Leu) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000559484]|Charcot-Marie-Tooth disease [RCV000789937] ChrX:71224222 [GRCh38]
ChrX:70444072 [GRCh37]
ChrX:Xq13.1
pathogenic|uncertain significance
NM_000166.6(GJB1):c.266T>C (p.Leu89Pro) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000552811]|Charcot-Marie-Tooth disease [RCV000789233]|not provided [RCV000516283] ChrX:71223973 [GRCh38]
ChrX:70443823 [GRCh37]
ChrX:Xq13.1
pathogenic|uncertain significance
NM_000166.6(GJB1):c.64C>T (p.Arg22Ter) single nucleotide variant Charcot-Marie-Tooth Neuropathy X Type 1 [RCV000763633]|Charcot-Marie-Tooth Neuropathy X [RCV000796941]|Charcot-Marie-Tooth disease [RCV000789221]|not provided [RCV000516443] ChrX:71223771 [GRCh38]
ChrX:70443621 [GRCh37]
ChrX:Xq13.1
pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
NM_000166.6(GJB1):c.565G>A (p.Val189Ile) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000558127]|Charcot-Marie-Tooth disease [RCV000789820] ChrX:71224272 [GRCh38]
ChrX:70444122 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.271G>C (p.Val91Leu) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789904]|not specified [RCV000517198] ChrX:71223978 [GRCh38]
ChrX:70443828 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.592T>C (p.Ser198Pro) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001201859]|not provided [RCV000517601] ChrX:71224299 [GRCh38]
ChrX:70444149 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.424C>T (p.Arg142Trp) single nucleotide variant Charcot-Marie-Tooth Neuropathy X Type 1 [RCV000011176]|Charcot-Marie-Tooth Neuropathy X [RCV000474456]|not provided [RCV000236641] ChrX:71224131 [GRCh38]
ChrX:70443981 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_000166.6(GJB1):c.514C>T (p.Pro172Ser) single nucleotide variant Charcot-Marie-Tooth Neuropathy X Type 1 [RCV000011177]|Charcot-Marie-Tooth Neuropathy X [RCV001053029]|not provided [RCV001090308] ChrX:71224221 [GRCh38]
ChrX:70444071 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_000166.6(GJB1):c.415G>A (p.Val139Met) single nucleotide variant Charcot-Marie-Tooth Neuropathy X Type 1 [RCV000011178]|Charcot-Marie-Tooth Neuropathy X [RCV000545060]|Charcot-Marie-Tooth disease [RCV000789810] ChrX:71224122 [GRCh38]
ChrX:70443972 [GRCh37]
ChrX:Xq13.1
pathogenic|uncertain significance
NM_000166.6(GJB1):c.397T>C (p.Trp133Arg) single nucleotide variant Charcot-Marie-Tooth Neuropathy X Type 1 [RCV000011179] ChrX:71224104 [GRCh38]
ChrX:70443954 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_000166.6(GJB1):c.658C>T (p.Arg220Ter) single nucleotide variant Charcot-Marie-Tooth Neuropathy X Type 1 [RCV000011180]|Charcot-Marie-Tooth Neuropathy X [RCV000466155]|not provided [RCV000236998] ChrX:71224365 [GRCh38]
ChrX:70444215 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_000166.6(GJB1):c.89T>A (p.Ile30Asn) single nucleotide variant Charcot-Marie-Tooth Neuropathy X Type 1 [RCV000011181] ChrX:71223796 [GRCh38]
ChrX:70443646 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_000166.6(GJB1):c.467T>G (p.Leu156Arg) single nucleotide variant Charcot-Marie-Tooth Neuropathy X Type 1 [RCV000011182]|Charcot-Marie-Tooth Neuropathy X [RCV000463876]|not provided [RCV000256065] ChrX:71224174 [GRCh38]
ChrX:70444024 [GRCh37]
ChrX:Xq13.1
pathogenic|likely pathogenic
NM_000166.6(GJB1):c.194A>G (p.Tyr65Cys) single nucleotide variant Charcot-Marie-Tooth Neuropathy X Type 1 [RCV000011183]|Charcot-Marie-Tooth Neuropathy X [RCV001245963] ChrX:71223901 [GRCh38]
ChrX:70443751 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_000166.6(GJB1):c.37G>T (p.Val13Leu) single nucleotide variant Charcot-Marie-Tooth Neuropathy X Type 1 [RCV000011184] ChrX:71223744 [GRCh38]
ChrX:70443594 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_000166.6(GJB1):c.283G>A (p.Val95Met) single nucleotide variant Charcot-Marie-Tooth Neuropathy X Type 1 [RCV000011186]|Charcot-Marie-Tooth Neuropathy X [RCV000168221]|Charcot-Marie-Tooth disease [RCV000789817]|not provided [RCV000235924] ChrX:71223990 [GRCh38]
ChrX:70443840 [GRCh37]
ChrX:Xq13.1
pathogenic|uncertain significance
NM_000166.6(GJB1):c.614A>G (p.Asn205Ser) single nucleotide variant Charcot-Marie-Tooth Neuropathy X Type 1 [RCV000011187]|Charcot-Marie-Tooth Neuropathy X [RCV000537008]|not provided [RCV000991856] ChrX:71224321 [GRCh38]
ChrX:70444171 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_000166.6(GJB1):c.254C>G (p.Ser85Cys) single nucleotide variant Charcot-Marie-Tooth Neuropathy X Type 1 [RCV000011189]|Charcot-Marie-Tooth disease [RCV000789235] ChrX:71223961 [GRCh38]
ChrX:70443811 [GRCh37]
ChrX:Xq13.1
pathogenic|uncertain significance
NM_000166.6(GJB1):c.164C>T (p.Thr55Ile) single nucleotide variant Charcot-Marie-Tooth Neuropathy X Type 1 [RCV000011191]|Charcot-Marie-Tooth disease [RCV000789872]|not provided [RCV000486043] ChrX:71223871 [GRCh38]
ChrX:70443721 [GRCh37]
ChrX:Xq13.1
pathogenic|uncertain significance
NM_000166.6(GJB1):c.704T>G (p.Phe235Cys) single nucleotide variant Charcot-Marie-Tooth Neuropathy X Type 1 [RCV000011195]|Charcot-Marie-Tooth Neuropathy X [RCV000467010]|Charcot-Marie-Tooth disease [RCV001271691]|not specified [RCV000344288] ChrX:71224411 [GRCh38]
ChrX:70444261 [GRCh37]
ChrX:Xq13.1
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_000166.6(GJB1):c.407T>C (p.Val136Ala) single nucleotide variant Charcot-Marie-Tooth Neuropathy X Type 1 [RCV000011196]|Dejerine-Sottas disease [RCV000011197] ChrX:71224114 [GRCh38]
ChrX:70443964 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_000166.6(GJB1):c.123G>C (p.Glu41Asp) single nucleotide variant Charcot-Marie-Tooth Neuropathy X Type 1 [RCV000020169]|Charcot-Marie-Tooth disease [RCV000789264] ChrX:71223830 [GRCh38]
ChrX:70443680 [GRCh37]
ChrX:Xq13.1
pathogenic|uncertain significance
NM_000166.6(GJB1):c.145T>C (p.Ser49Pro) single nucleotide variant Charcot-Marie-Tooth Neuropathy X Type 1 [RCV000020170]|Charcot-Marie-Tooth disease [RCV000789951] ChrX:71223852 [GRCh38]
ChrX:70443702 [GRCh37]
ChrX:Xq13.1
pathogenic|uncertain significance
NM_000166.6(GJB1):c.187G>A (p.Val63Ile) single nucleotide variant Charcot-Marie-Tooth Neuropathy X Type 1 [RCV000020171]|Charcot-Marie-Tooth Neuropathy X [RCV001064548]|Charcot-Marie-Tooth disease [RCV000789665]|not provided [RCV000217618] ChrX:71223894 [GRCh38]
ChrX:70443744 [GRCh37]
ChrX:Xq13.1
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000166.6(GJB1):c.223C>T (p.Arg75Trp) single nucleotide variant Charcot-Marie-Tooth Neuropathy X Type 1 [RCV000020172]|Charcot-Marie-Tooth Neuropathy X [RCV000654844]|Charcot-Marie-Tooth disease [RCV000789309]|not provided [RCV000236563] ChrX:71223930 [GRCh38]
ChrX:70443780 [GRCh37]
ChrX:Xq13.1
pathogenic|uncertain significance
NM_000166.6(GJB1):c.225del (p.Leu76fs) deletion Charcot-Marie-Tooth Neuropathy X Type 1 [RCV000020173]|Charcot-Marie-Tooth disease [RCV000789840] ChrX:71223931 [GRCh38]
ChrX:70443781 [GRCh37]
ChrX:Xq13.1
pathogenic|uncertain significance
NM_000166.6(GJB1):c.43C>T (p.Arg15Trp) single nucleotide variant Charcot-Marie-Tooth Neuropathy X Type 1 [RCV000020174]|Charcot-Marie-Tooth Neuropathy X [RCV000167902]|Charcot-Marie-Tooth disease [RCV000789234]|not provided [RCV000236824] ChrX:71223750 [GRCh38]
ChrX:70443600 [GRCh37]
ChrX:Xq13.1
pathogenic|uncertain significance
NM_000166.6(GJB1):c.536G>A (p.Cys179Tyr) single nucleotide variant Charcot-Marie-Tooth Neuropathy X Type 1 [RCV000020175]|Charcot-Marie-Tooth disease [RCV000789199]|not provided [RCV000220506] ChrX:71224243 [GRCh38]
ChrX:70444093 [GRCh37]
ChrX:Xq13.1
pathogenic|likely pathogenic|uncertain significance
NM_000166.6(GJB1):c.556G>A (p.Glu186Lys) single nucleotide variant Charcot-Marie-Tooth Neuropathy X Type 1 [RCV000020176]|Charcot-Marie-Tooth Neuropathy X [RCV000654837]|Charcot-Marie-Tooth disease [RCV000789812] ChrX:71224263 [GRCh38]
ChrX:70444113 [GRCh37]
ChrX:Xq13.1
pathogenic|uncertain significance
NM_001097642.2(GJB1):c.572_580dup(p.Phe193_Met194insThrValPhe) microsatellite Charcot-Marie-Tooth Neuropathy X Type 1 [RCV000020177]|Charcot-Marie-Tooth Neuropathy X [RCV000698062] ChrX:71224268..71224269 [GRCh38]
ChrX:70444118..70444119 [GRCh37]
ChrX:Xq13.1
pathogenic|uncertain significance
NM_000166.6(GJB1):c.172C>T (p.Pro58Ser) single nucleotide variant Charcot-Marie-Tooth Neuropathy X Type 1 [RCV000083303] ChrX:71223879 [GRCh38]
ChrX:70443729 [GRCh37]
ChrX:Xq13.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq12-21.1(chrX:67621041-76868590)x2 copy number gain See cases [RCV000052416] ChrX:67621041..76868590 [GRCh38]
ChrX:66840883..76009501 [GRCh37]
ChrX:66757608..76005403 [NCBI36]
ChrX:Xq12-21.1
pathogenic
GRCh38/hg38 Xq12-13.3(chrX:68382004-75243150)x2 copy number gain See cases [RCV000052417] ChrX:68382004..75243150 [GRCh38]
ChrX:67601846..74462985 [GRCh37]
ChrX:67518571..74379710 [NCBI36]
ChrX:Xq12-13.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_000166.6(GJB1):c.271G>A (p.Val91Met) single nucleotide variant Charcot-Marie-Tooth Neuropathy X Type 1 [RCV001249761]|Charcot-Marie-Tooth Neuropathy X [RCV000461635]|not provided [RCV000175537] ChrX:71223978 [GRCh38]
ChrX:70443828 [GRCh37]
ChrX:Xq13.1
pathogenic|likely pathogenic
NM_000166.6(GJB1):c.602G>C (p.Cys201Ser) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001312609] ChrX:71224309 [GRCh38]
ChrX:70444159 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.259C>G (p.Pro87Ala) single nucleotide variant Charcot-Marie-Tooth Neuropathy X Type 1 [RCV000143793]|Charcot-Marie-Tooth Neuropathy X [RCV001042343] ChrX:71223966 [GRCh38]
ChrX:70443816 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_000166.6(GJB1):c.580A>G (p.Met194Val) single nucleotide variant Charcot-Marie-Tooth Neuropathy X Type 1 [RCV000143794] ChrX:71224287 [GRCh38]
ChrX:70444137 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_000166.6(GJB1):c.77C>T (p.Ser26Leu) single nucleotide variant Charcot-Marie-Tooth Neuropathy X Type 1 [RCV000143795]|Charcot-Marie-Tooth Neuropathy X [RCV000460808]|not provided [RCV000437610] ChrX:71223784 [GRCh38]
ChrX:70443634 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_000166.6(GJB1):c.790C>T (p.Arg264Cys) single nucleotide variant Charcot-Marie-Tooth Neuropathy X Type 1 [RCV000143796]|Charcot-Marie-Tooth disease [RCV001174164] ChrX:71224497 [GRCh38]
ChrX:70444347 [GRCh37]
ChrX:Xq13.1
pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_000166.6(GJB1):c.688C>T (p.Arg230Cys) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000551749]|Charcot-Marie-Tooth disease [RCV000144863]|not specified [RCV000213596] ChrX:71224395 [GRCh38]
ChrX:70444245 [GRCh37]
ChrX:Xq13.1
pathogenic|likely pathogenic|benign|likely benign|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq11.1-21.1(chrX:62712219-78605009)x3 copy number gain See cases [RCV000134569] ChrX:62712219..78605009 [GRCh38]
ChrX:61931689..77860506 [GRCh37]
ChrX:61848414..77747162 [NCBI36]
ChrX:Xq11.1-21.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1 copy number loss See cases [RCV000135306] ChrX:53985575..92203108 [GRCh38]
ChrX:54012008..91458107 [GRCh37]
ChrX:54028733..91344763 [NCBI36]
ChrX:Xp11.22-q21.31
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1 copy number loss See cases [RCV000137414] ChrX:49100536..102174742 [GRCh38]
ChrX:48957474..101429714 [GRCh37]
ChrX:48844418..101316370 [NCBI36]
ChrX:Xp11.23-q22.1
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604) copy number loss See cases [RCV000141742] ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24
pathogenic
GRCh38/hg38 Xq12-21.1(chrX:66445907-78172208)x3 copy number gain See cases [RCV000142336] ChrX:66445907..78172208 [GRCh38]
ChrX:65665749..77427705 [GRCh37]
ChrX:65582474..77314361 [NCBI36]
ChrX:Xq12-21.1
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.21-q13.3(chrX:56431359-76557419)x1 copy number loss See cases [RCV000143131] ChrX:56431359..76557419 [GRCh38]
ChrX:56457792..75777827 [GRCh37]
ChrX:56474517..75694231 [NCBI36]
ChrX:Xp11.21-q13.3
pathogenic
GRCh38/hg38 Xq13.1(chrX:71071787-71777197)x2 copy number gain See cases [RCV000143302] ChrX:71071787..71777197 [GRCh38]
ChrX:70291637..70997047 [GRCh37]
ChrX:70208362..70913772 [NCBI36]
ChrX:Xq13.1
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.1(chrX:71022322-71682982)x2 copy number gain See cases [RCV000143525] ChrX:71022322..71682982 [GRCh38]
ChrX:70242172..70902832 [GRCh37]
ChrX:70158897..70819557 [NCBI36]
ChrX:Xq13.1
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_000166.6(GJB1):c.116C>T (p.Ala39Val) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000168011]|Charcot-Marie-Tooth disease [RCV000789271] ChrX:71223823 [GRCh38]
ChrX:70443673 [GRCh37]
ChrX:Xq13.1
pathogenic|uncertain significance
NM_000166.6(GJB1):c.425G>A (p.Arg142Gln) single nucleotide variant Charcot-Marie-Tooth Neuropathy X Type 1 [RCV000714875]|Charcot-Marie-Tooth Neuropathy X [RCV000168077]|Charcot-Marie-Tooth disease [RCV000789950]|D-2-hydroxyglutaric aciduria 1 [RCV000714874] ChrX:71224132 [GRCh38]
ChrX:70443982 [GRCh37]
ChrX:Xq13.1
pathogenic|likely pathogenic|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000166.6(GJB1):c.547C>T (p.Arg183Cys) single nucleotide variant Charcot-Marie-Tooth Neuropathy X Type 1 [RCV000754745]|Charcot-Marie-Tooth Neuropathy X [RCV000197033]|Charcot-Marie-Tooth disease [RCV000789836]|not provided [RCV000235360] ChrX:71224254 [GRCh38]
ChrX:70444104 [GRCh37]
ChrX:Xq13.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000166.6(GJB1):c.83T>A (p.Ile28Asn) single nucleotide variant Charcot-Marie-Tooth Neuropathy X Type 1 [RCV000756204]|Charcot-Marie-Tooth Neuropathy X [RCV000198281]|Charcot-Marie-Tooth disease [RCV000789176] ChrX:71223790 [GRCh38]
ChrX:70443640 [GRCh37]
ChrX:Xq13.1
pathogenic|likely pathogenic|uncertain significance
NM_000166.6(GJB1):c.9G>A (p.Trp3Ter) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000199286] ChrX:71223716 [GRCh38]
ChrX:70443566 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_000166.6(GJB1):c.113T>G (p.Val38Gly) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000199414]|not provided [RCV000235965] ChrX:71223820 [GRCh38]
ChrX:70443670 [GRCh37]
ChrX:Xq13.1
likely pathogenic|uncertain significance
NM_000166.6(GJB1):c.305A>G (p.Glu102Gly) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000200289]|Charcot-Marie-Tooth disease [RCV000790300]|not provided [RCV000349313] ChrX:71224012 [GRCh38]
ChrX:70443862 [GRCh37]
ChrX:Xq13.1
pathogenic|uncertain significance
NM_000166.6(GJB1):c.163A>G (p.Thr55Ala) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000200595]|Charcot-Marie-Tooth disease [RCV000789860] ChrX:71223870 [GRCh38]
ChrX:70443720 [GRCh37]
ChrX:Xq13.1
uncertain significance
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000166.6(GJB1):c.319C>T (p.Arg107Trp) single nucleotide variant Charcot-Marie-Tooth Neuropathy X Type 1 [RCV000201004]|Charcot-Marie-Tooth Neuropathy X [RCV001044069] ChrX:71224026 [GRCh38]
ChrX:70443876 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_000166.6(GJB1):c.-103C>T single nucleotide variant Charcot-Marie-Tooth Neuropathy X Type 1 [RCV000201088]|Charcot-Marie-Tooth Neuropathy X [RCV000228634]|Charcot-Marie-Tooth disease [RCV001276387] ChrX:71223249 [GRCh38]
ChrX:70443099 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_000166.6(GJB1):c.44G>A (p.Arg15Gln) single nucleotide variant Charcot-Marie-Tooth Neuropathy X Type 1 [RCV000201093]|Charcot-Marie-Tooth Neuropathy X [RCV000234336]|not provided [RCV000235929] ChrX:71223751 [GRCh38]
ChrX:70443601 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_000166.6(GJB1):c.490C>T (p.Arg164Trp) single nucleotide variant Charcot-Marie-Tooth Neuropathy X Type 1 [RCV000201175]|Charcot-Marie-Tooth Neuropathy X [RCV000793229]|not provided [RCV000307118] ChrX:71224197 [GRCh38]
ChrX:70444047 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_000166.6(GJB1):c.224G>A (p.Arg75Gln) single nucleotide variant Charcot-Marie-Tooth Neuropathy X Type 1 [RCV000201183]|Charcot-Marie-Tooth Neuropathy X [RCV000691748]|Charcot-Marie-Tooth disease [RCV001276388] ChrX:71223931 [GRCh38]
ChrX:70443781 [GRCh37]
ChrX:Xq13.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_000166.6(GJB1):c.644G>C (p.Arg215Pro) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000205076]|not provided [RCV000236627] ChrX:71224351 [GRCh38]
ChrX:70444201 [GRCh37]
ChrX:Xq13.1
pathogenic|likely pathogenic|uncertain significance
NM_000166.6(GJB1):c.235C>T (p.Leu79=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X Type 1 [RCV000334402]|Charcot-Marie-Tooth Neuropathy X [RCV000206696]|Dejerine-Sottas disease [RCV000790303]|History of neurodevelopmental disorder [RCV000720988]|not provided [RCV001310732]|not specified [RCV000435876] ChrX:71223942 [GRCh38]
ChrX:70443792 [GRCh37]
ChrX:Xq13.1
benign|likely benign|uncertain significance
NM_000166.6(GJB1):c.34G>A (p.Gly12Ser) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000552022]|Charcot-Marie-Tooth disease [RCV000789811] ChrX:71223741 [GRCh38]
ChrX:70443591 [GRCh37]
ChrX:Xq13.1
likely pathogenic|uncertain significance
NM_000166.6(GJB1):c.461A>G (p.Tyr154Cys) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000560305] ChrX:71224168 [GRCh38]
ChrX:70444018 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.622G>A (p.Glu208Lys) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000805747]|Charcot-Marie-Tooth disease [RCV000789848]|not provided [RCV000518825] ChrX:71224329 [GRCh38]
ChrX:70444179 [GRCh37]
ChrX:Xq13.1
pathogenic|uncertain significance
NM_000166.6(GJB1):c.392T>G (p.Leu131Arg) single nucleotide variant not provided [RCV000519707] ChrX:71224099 [GRCh38]
ChrX:70443949 [GRCh37]
ChrX:Xq13.1
likely pathogenic
NM_001097642.2(GJB1):c.131G>A (p.Trp44Ter) single nucleotide variant Deafness, autosomal recessive 1A [RCV000223674] ChrX:71223838 [GRCh38]
ChrX:70443688 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_000166.6(GJB1):c.542T>A (p.Val181Glu) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000654849]|not provided [RCV000214039] ChrX:71224249 [GRCh38]
ChrX:70444099 [GRCh37]
ChrX:Xq13.1
likely pathogenic|uncertain significance
NM_000166.6(GJB1):c.556G>T (p.Glu186Ter) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789222]|not provided [RCV000214191] ChrX:71224263 [GRCh38]
ChrX:70444113 [GRCh37]
ChrX:Xq13.1
pathogenic|uncertain significance
NM_000166.6(GJB1):c.151T>C (p.Phe51Leu) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000471605]|not provided [RCV000220727] ChrX:71223858 [GRCh38]
ChrX:70443708 [GRCh37]
ChrX:Xq13.1
pathogenic|likely pathogenic|uncertain significance
NM_000166.6(GJB1):c.241C>G (p.Leu81Val) single nucleotide variant not provided [RCV000218526] ChrX:71223948 [GRCh38]
ChrX:70443798 [GRCh37]
ChrX:Xq13.1
likely pathogenic
NM_000166.6(GJB1):c.372G>C (p.Lys124Asn) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001294422]|Charcot-Marie-Tooth disease [RCV000789170]|not provided [RCV000216227] ChrX:71224079 [GRCh38]
ChrX:70443929 [GRCh37]
ChrX:Xq13.1
likely pathogenic|uncertain significance
NM_000166.6(GJB1):c.-16-2A>G single nucleotide variant Charcot-Marie-Tooth Neuropathy X Type 1 [RCV000235072] ChrX:71223690 [GRCh38]
ChrX:70443540 [GRCh37]
ChrX:Xq13.1
likely pathogenic
NM_000166.6(GJB1):c.208C>G (p.Pro70Ala) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000231475]|Charcot-Marie-Tooth disease [RCV000789229]|not provided [RCV000484101] ChrX:71223915 [GRCh38]
ChrX:70443765 [GRCh37]
ChrX:Xq13.1
pathogenic|likely pathogenic|uncertain significance
NM_000166.6(GJB1):c.231G>A (p.Trp77Ter) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789171]|not provided [RCV000235279] ChrX:71223938 [GRCh38]
ChrX:70443788 [GRCh37]
ChrX:Xq13.1
pathogenic|uncertain significance
NM_000166.6(GJB1):c.541G>A (p.Val181Met) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000804182]|Charcot-Marie-Tooth disease [RCV000789192]|not provided [RCV000235289] ChrX:71224248 [GRCh38]
ChrX:70444098 [GRCh37]
ChrX:Xq13.1
pathogenic|uncertain significance
NM_000166.6(GJB1):c.439G>A (p.Ala147Thr) single nucleotide variant not provided [RCV000235353] ChrX:71224146 [GRCh38]
ChrX:70443996 [GRCh37]
ChrX:Xq13.1
likely pathogenic
NM_000166.6(GJB1):c.-17G>A single nucleotide variant Charcot-Marie-Tooth Neuropathy X Type 1 [RCV001249760]|Charcot-Marie-Tooth Neuropathy X [RCV000470682]|not provided [RCV000235476] ChrX:71223335 [GRCh38]
ChrX:70443185 [GRCh37]
ChrX:Xq13.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000166.6(GJB1):c.132G>C (p.Trp44Cys) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001068519]|Charcot-Marie-Tooth disease [RCV000789296]|not provided [RCV000235491] ChrX:71223839 [GRCh38]
ChrX:70443689 [GRCh37]
ChrX:Xq13.1
likely pathogenic|uncertain significance
NM_000166.6(GJB1):c.112G>A (p.Val38Met) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000793260]|Charcot-Marie-Tooth disease [RCV000789918]|not provided [RCV000235629] ChrX:71223819 [GRCh38]
ChrX:70443669 [GRCh37]
ChrX:Xq13.1
pathogenic|uncertain significance
NM_000166.6(GJB1):c.83T>C (p.Ile28Thr) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001203741]|Charcot-Marie-Tooth disease [RCV000789177]|not provided [RCV000235732] ChrX:71223790 [GRCh38]
ChrX:70443640 [GRCh37]
ChrX:Xq13.1
likely pathogenic|uncertain significance
NM_000166.6(GJB1):c.239A>G (p.Gln80Arg) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000466555]|Charcot-Marie-Tooth disease [RCV000789226]|not provided [RCV000235814] ChrX:71223946 [GRCh38]
ChrX:70443796 [GRCh37]
ChrX:Xq13.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000166.6(GJB1):c.643C>T (p.Arg215Trp) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000688999]|Charcot-Marie-Tooth disease [RCV000789850]|not provided [RCV000236009] ChrX:71224350 [GRCh38]
ChrX:70444200 [GRCh37]
ChrX:Xq13.1
pathogenic|uncertain significance
NM_000166.6(GJB1):c.376C>T (p.His126Tyr) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000698707]|Charcot-Marie-Tooth disease [RCV000789056]|not provided [RCV000236069] ChrX:71224083 [GRCh38]
ChrX:70443933 [GRCh37]
ChrX:Xq13.1
likely pathogenic|uncertain significance
NM_000166.6(GJB1):c.282C>A (p.His94Gln) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789853]|not provided [RCV000236380] ChrX:71223989 [GRCh38]
ChrX:70443839 [GRCh37]
ChrX:Xq13.1
pathogenic|uncertain significance
NM_000166.6(GJB1):c.462T>G (p.Tyr154Ter) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000822814]|not provided [RCV000236399] ChrX:71224169 [GRCh38]
ChrX:70444019 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_000166.6(GJB1):c.396del (p.Trp132fs) deletion Charcot-Marie-Tooth Neuropathy X [RCV001234751]|not provided [RCV000236340] ChrX:71224102 [GRCh38]
ChrX:70443952 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_000166.6(GJB1):c.-27C>T single nucleotide variant not provided [RCV000711355]|not specified [RCV000236973] ChrX:71223325 [GRCh38]
ChrX:70443175 [GRCh37]
ChrX:Xq13.1
likely benign|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.21-q21.1(chrX:55240087-78225374)x1 copy number loss See cases [RCV000511311] ChrX:55240087..78225374 [GRCh37]
ChrX:Xp11.21-q21.1
pathogenic
GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3 copy number gain See cases [RCV000240019] ChrX:44734936..79676121 [GRCh37]
ChrX:Xp11.3-q21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001097642.3(GJB1):c.-16-697G>A single nucleotide variant not provided [RCV000841185]|not specified [RCV000248461] ChrX:71222995 [GRCh38]
ChrX:70442845 [GRCh37]
ChrX:Xq13.1
benign
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000166.6(GJB1):c.-6G>A single nucleotide variant Charcot-Marie-Tooth Neuropathy X Type 1 [RCV000279684]|Charcot-Marie-Tooth disease [RCV001174172]|not provided [RCV000711361]|not specified [RCV000420912] ChrX:71223702 [GRCh38]
ChrX:70443552 [GRCh37]
ChrX:Xq13.1
benign|likely benign
NM_000166.6(GJB1):c.-128G>A single nucleotide variant Charcot-Marie-Tooth Neuropathy X Type 1 [RCV000374092] ChrX:71223224 [GRCh38]
ChrX:70443074 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.507C>T (p.Asp169=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X Type 1 [RCV000285115]|Charcot-Marie-Tooth Neuropathy X [RCV001080619]|Charcot-Marie-Tooth disease [RCV001174167]|not provided [RCV000711357]|not specified [RCV000790236] ChrX:71224214 [GRCh38]
ChrX:70444064 [GRCh37]
ChrX:Xq13.1
benign|likely benign
NM_000166.6(GJB1):c.463C>A (p.Leu155Met) single nucleotide variant Charcot-Marie-Tooth Neuropathy X Type 1 [RCV000379624] ChrX:71224170 [GRCh38]
ChrX:70444020 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.*117C>T single nucleotide variant Charcot-Marie-Tooth Neuropathy X Type 1 [RCV000309891] ChrX:71224676 [GRCh38]
ChrX:70444526 [GRCh37]
ChrX:Xq13.1
benign
NM_000166.6(GJB1):c.*34C>A single nucleotide variant Charcot-Marie-Tooth Neuropathy X Type 1 [RCV000390006] ChrX:71224593 [GRCh38]
ChrX:70444443 [GRCh37]
ChrX:Xq13.1
benign
NM_000166.6(GJB1):c.*163G>T single nucleotide variant Charcot-Marie-Tooth Neuropathy X Type 1 [RCV000346161] ChrX:71224722 [GRCh38]
ChrX:70444572 [GRCh37]
ChrX:Xq13.1
benign
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
NM_000166.6(GJB1):c.497T>G (p.Val166Gly) single nucleotide variant not specified [RCV000517746] ChrX:71224204 [GRCh38]
ChrX:70444054 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.699G>A (p.Ser233=) single nucleotide variant not specified [RCV000516197] ChrX:71224406 [GRCh38]
ChrX:70444256 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.324dup (p.Glu109Ter) duplication Charcot-Marie-Tooth disease [RCV000789256]|not provided [RCV000598661] ChrX:71224029..71224030 [GRCh38]
ChrX:70443879..70443880 [GRCh37]
ChrX:Xq13.1
likely pathogenic|uncertain significance
NC_000023.11:g.(?_71223168)_(71224579_?)del deletion Charcot-Marie-Tooth Neuropathy X [RCV000528677] ChrX:71223168..71224579 [GRCh38]
ChrX:70443018..70444429 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_000166.6(GJB1):c.*277A>G single nucleotide variant Charcot-Marie-Tooth Neuropathy X Type 1 [RCV001169759] ChrX:71224836 [GRCh38]
ChrX:70444686 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.297A>G (p.Gln99=) single nucleotide variant not specified [RCV000518426] ChrX:71224004 [GRCh38]
ChrX:70443854 [GRCh37]
ChrX:Xq13.1
conflicting interpretations of pathogenicity|uncertain significance
NM_000166.6(GJB1):c.502T>G (p.Cys168Gly) single nucleotide variant Charcot-Marie-Tooth Neuropathy X Type 1 [RCV001199043]|Decreased nerve conduction velocity [RCV000415205]|Pes cavus [RCV000414760] ChrX:71224209 [GRCh38]
ChrX:70444059 [GRCh37]
ChrX:Xq13.1
likely pathogenic
NM_000166.6(GJB1):c.109G>T (p.Val37Leu) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000797143]|Charcot-Marie-Tooth disease [RCV000789238]|Reduced tendon reflexes [RCV000415308]|not provided [RCV000991852] ChrX:71223816 [GRCh38]
ChrX:70443666 [GRCh37]
ChrX:Xq13.1
pathogenic|likely pathogenic|uncertain significance
NM_000166.6(GJB1):c.712C>T (p.Arg238Cys) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000525515]|Charcot-Marie-Tooth disease [RCV000789895] ChrX:71224419 [GRCh38]
ChrX:70444269 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.270C>T (p.Leu90=) single nucleotide variant not provided [RCV000531077] ChrX:71223977 [GRCh38]
ChrX:70443827 [GRCh37]
ChrX:Xq13.1
likely benign
NM_000166.6(GJB1):c.590C>T (p.Ala197Val) single nucleotide variant Charcot-Marie-Tooth Neuropathy X Type 1 [RCV000755014]|Charcot-Marie-Tooth disease [RCV000789880] ChrX:71224297 [GRCh38]
ChrX:70444147 [GRCh37]
ChrX:Xq13.1
pathogenic|uncertain significance
NM_000166.6(GJB1):c.230G>T (p.Trp77Leu) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000527885] ChrX:71223937 [GRCh38]
ChrX:70443787 [GRCh37]
ChrX:Xq13.1
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000166.6(GJB1):c.659G>A (p.Arg220Gln) single nucleotide variant not provided [RCV000423810] ChrX:71224366 [GRCh38]
ChrX:70444216 [GRCh37]
ChrX:Xq13.1
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000166.6(GJB1):c.-77G>A single nucleotide variant not specified [RCV000428344] ChrX:71223275 [GRCh38]
ChrX:70443125 [GRCh37]
ChrX:Xq13.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_000166.6(GJB1):c.571A>T (p.Thr191Ser) single nucleotide variant not specified [RCV000518749] ChrX:71224278 [GRCh38]
ChrX:70444128 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.*15C>T single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001057812]|not specified [RCV000443661] ChrX:71224574 [GRCh38]
ChrX:70444424 [GRCh37]
ChrX:Xq13.1
pathogenic|likely benign
NM_000166.6(GJB1):c.-101C>T single nucleotide variant not provided [RCV000991851]|not specified [RCV000426678] ChrX:71223251 [GRCh38]
ChrX:70443101 [GRCh37]
ChrX:Xq13.1
likely benign|uncertain significance
NM_000166.6(GJB1):c.-17+116C>T single nucleotide variant not specified [RCV000444378] ChrX:71223451 [GRCh38]
ChrX:70443301 [GRCh37]
ChrX:Xq13.1
benign
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_000166.6(GJB1):c.563_571CCGTCTTCA[1] (p.188_190TVF[1]) microsatellite Charcot-Marie-Tooth Neuropathy X [RCV000462782] ChrX:71224269..71224277 [GRCh38]
ChrX:70444119..70444127 [GRCh37]
ChrX:Xq13.1
likely pathogenic
NM_000166.6(GJB1):c.526_555dup (p.Thr176_Thr185dup) duplication Charcot-Marie-Tooth Neuropathy X [RCV000821391]|not provided [RCV000480217] ChrX:71224231..71224232 [GRCh38]
ChrX:70444081..70444082 [GRCh37]
ChrX:Xq13.1
likely pathogenic|uncertain significance
NM_000166.6(GJB1):c.101T>C (p.Met34Thr) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000467465]|Charcot-Marie-Tooth disease [RCV000789955] ChrX:71223808 [GRCh38]
ChrX:70443658 [GRCh37]
ChrX:Xq13.1
pathogenic|uncertain significance
NM_000166.6(GJB1):c.438G>A (p.Glu146=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000471340] ChrX:71224145 [GRCh38]
ChrX:70443995 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.65G>A (p.Arg22Gln) single nucleotide variant Charcot-Marie-Tooth Neuropathy X Type 1 [RCV000853377]|Charcot-Marie-Tooth Neuropathy X [RCV000475257]|Charcot-Marie-Tooth disease [RCV000789225]|not provided [RCV000517974] ChrX:71223772 [GRCh38]
ChrX:70443622 [GRCh37]
ChrX:Xq13.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000166.6(GJB1):c.14G>T (p.Gly5Val) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000697574]|Charcot-Marie-Tooth disease [RCV001027491]|not provided [RCV000480735] ChrX:71223721 [GRCh38]
ChrX:70443571 [GRCh37]
ChrX:Xq13.1
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000166.6(GJB1):c.178T>C (p.Cys60Arg) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000456635]|not provided [RCV000493246] ChrX:71223885 [GRCh38]
ChrX:70443735 [GRCh37]
ChrX:Xq13.1
likely pathogenic|uncertain significance
NM_000166.6(GJB1):c.541G>T (p.Val181Leu) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000457060] ChrX:71224248 [GRCh38]
ChrX:70444098 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.102G>A (p.Met34Ile) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000468413] ChrX:71223809 [GRCh38]
ChrX:70443659 [GRCh37]
ChrX:Xq13.1
likely pathogenic
NM_001097642.3(GJB1):c.-16-524C>G single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000475866] ChrX:71223168 [GRCh38]
ChrX:70443018 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.610C>A (p.Leu204Ile) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000703562]|not provided [RCV000478206] ChrX:71224317 [GRCh38]
ChrX:70444167 [GRCh37]
ChrX:Xq13.1
likely pathogenic|uncertain significance
NM_000166.6(GJB1):c.343dup (p.Leu115fs) duplication Charcot-Marie-Tooth Neuropathy X [RCV000476759] ChrX:71224045..71224046 [GRCh38]
ChrX:70443895..70443896 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_000166.6(GJB1):c.626T>G (p.Val209Gly) single nucleotide variant not provided [RCV000486398] ChrX:71224333 [GRCh38]
ChrX:70444183 [GRCh37]
ChrX:Xq13.1
likely pathogenic
NM_000166.6(GJB1):c.566T>G (p.Val189Gly) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000809132]|Charcot-Marie-Tooth disease [RCV000789819]|not provided [RCV000480241] ChrX:71224273 [GRCh38]
ChrX:70444123 [GRCh37]
ChrX:Xq13.1
pathogenic|likely pathogenic|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
NM_000166.6(GJB1):c.148T>C (p.Ser50Pro) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789248]|not provided [RCV000493545]|not specified [RCV000518090] ChrX:71223855 [GRCh38]
ChrX:70443705 [GRCh37]
ChrX:Xq13.1
likely pathogenic|uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_001097642.3(GJB1):c.-16-523_-16-519delinsCAAGT indel not provided [RCV000494095] ChrX:71223169..71223173 [GRCh38]
ChrX:70443019..70443023 [GRCh37]
ChrX:Xq13.1
uncertain significance
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1
pathogenic
NM_000166.6(GJB1):c.52A>G (p.Thr18Ala) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000796386]|not specified [RCV000506203] ChrX:71223759 [GRCh38]
ChrX:70443609 [GRCh37]
ChrX:Xq13.1
uncertain significance
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
NM_000166.6(GJB1):c.605T>A (p.Ile202Asn) single nucleotide variant not provided [RCV000494481] ChrX:71224312 [GRCh38]
ChrX:70444162 [GRCh37]
ChrX:Xq13.1
likely pathogenic|not provided
GRCh37/hg19 Xq13.1(chrX:70287671-70997047)x3 copy number gain See cases [RCV000511625] ChrX:70287671..70997047 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.307A>G (p.Lys103Glu) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000704995]|Charcot-Marie-Tooth disease [RCV000789185]|not provided [RCV000492924] ChrX:71224014 [GRCh38]
ChrX:70443864 [GRCh37]
ChrX:Xq13.1
likely pathogenic|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_000166.6(GJB1):c.370A>G (p.Lys124Glu) single nucleotide variant Charcot-Marie-Tooth Neuropathy X Type 1 [RCV001007462]|Charcot-Marie-Tooth Neuropathy X [RCV000530309] ChrX:71224077 [GRCh38]
ChrX:70443927 [GRCh37]
ChrX:Xq13.1
pathogenic|uncertain significance
NM_000166.6(GJB1):c.77C>G (p.Ser26Trp) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000535675]|Charcot-Marie-Tooth disease [RCV000789319] ChrX:71223784 [GRCh38]
ChrX:70443634 [GRCh37]
ChrX:Xq13.1
pathogenic|uncertain significance
NM_000166.6(GJB1):c.637A>G (p.Ile213Val) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000654834]|Charcot-Marie-Tooth disease [RCV000789057]|Inborn genetic diseases [RCV000622462] ChrX:71224344 [GRCh38]
ChrX:70444194 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.532G>A (p.Asp178Asn) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000537790] ChrX:71224239 [GRCh38]
ChrX:70444089 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.164_184dup (p.Thr55_Asn61dup) duplication Charcot-Marie-Tooth Neuropathy X [RCV000538846] ChrX:71223862..71223863 [GRCh38]
ChrX:70443712..70443713 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.475G>A (p.Gly159Ser) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000529489]|Charcot-Marie-Tooth disease [RCV000789250] ChrX:71224182 [GRCh38]
ChrX:70444032 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.128T>A (p.Val43Glu) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000654835] ChrX:71223835 [GRCh38]
ChrX:70443685 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.179G>A (p.Cys60Tyr) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000654836]|Charcot-Marie-Tooth disease [RCV000789055] ChrX:71223886 [GRCh38]
ChrX:70443736 [GRCh37]
ChrX:Xq13.1
likely pathogenic|uncertain significance
NM_000166.6(GJB1):c.58A>G (p.Ile20Val) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000654838] ChrX:71223765 [GRCh38]
ChrX:70443615 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.505G>A (p.Asp169Asn) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000654840] ChrX:71224212 [GRCh38]
ChrX:70444062 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.491G>A (p.Arg164Gln) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000654841]|Charcot-Marie-Tooth disease [RCV000789839]|not provided [RCV001310733] ChrX:71224198 [GRCh38]
ChrX:70444048 [GRCh37]
ChrX:Xq13.1
pathogenic|uncertain significance
NM_001097642.3(GJB1):c.-16-513T>C single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000654842] ChrX:71223179 [GRCh38]
ChrX:70443029 [GRCh37]
ChrX:Xq13.1
likely pathogenic|uncertain significance
NM_000166.6(GJB1):c.163A>C (p.Thr55Pro) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000654843] ChrX:71223870 [GRCh38]
ChrX:70443720 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.658C>G (p.Arg220Gly) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000654846]|Charcot-Marie-Tooth disease [RCV000789831] ChrX:71224365 [GRCh38]
ChrX:70444215 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.830G>A (p.Ser277Asn) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000654847]|Charcot-Marie-Tooth disease [RCV001271692] ChrX:71224537 [GRCh38]
ChrX:70444387 [GRCh37]
ChrX:Xq13.1
likely benign|uncertain significance
NM_000166.6(GJB1):c.559A>G (p.Lys187Glu) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000654848]|Charcot-Marie-Tooth disease [RCV000789818] ChrX:71224266 [GRCh38]
ChrX:70444116 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.8G>C (p.Trp3Ser) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000654850]|Charcot-Marie-Tooth disease [RCV000789228] ChrX:71223715 [GRCh38]
ChrX:70443565 [GRCh37]
ChrX:Xq13.1
pathogenic|uncertain significance
NM_000166.6(GJB1):c.8G>A (p.Trp3Ter) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000654851]|Charcot-Marie-Tooth disease [RCV000789800] ChrX:71223715 [GRCh38]
ChrX:70443565 [GRCh37]
ChrX:Xq13.1
pathogenic|uncertain significance
NM_000166.6(GJB1):c.670C>T (p.Arg224Cys) single nucleotide variant Charcot-Marie-Tooth Neuropathy X Type 1 [RCV000791131]|Charcot-Marie-Tooth Neuropathy X [RCV000654853]|Charcot-Marie-Tooth disease [RCV001279978] ChrX:71224377 [GRCh38]
ChrX:70444227 [GRCh37]
ChrX:Xq13.1
uncertain significance
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
GRCh37/hg19 Xq13.1(chrX:70287671-70997047)x2 copy number gain See cases [RCV000512522] ChrX:70287671..70997047 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.50C>G (p.Ser17Cys) single nucleotide variant Charcot-Marie-Tooth disease [RCV000512762] ChrX:71223757 [GRCh38]
ChrX:70443607 [GRCh37]
ChrX:Xq13.1
likely pathogenic
NM_000166.6(GJB1):c.329G>A (p.Gly110Asp) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789240]|not provided [RCV000512953] ChrX:71224036 [GRCh38]
ChrX:70443886 [GRCh37]
ChrX:Xq13.1
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_000166.6(GJB1):c.392_393TG[1] (p.Trp132fs) microsatellite Charcot-Marie-Tooth Neuropathy X Type 1 [RCV000990864]|Charcot-Marie-Tooth disease [RCV000789280]|Inborn genetic diseases [RCV000624800] ChrX:71224099..71224100 [GRCh38]
ChrX:70443951..70443952 [GRCh37]
ChrX:Xq13.1
pathogenic|uncertain significance
NM_000166.6(GJB1):c.41A>T (p.Asn14Ile) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000686872] ChrX:71223748 [GRCh38]
ChrX:70443598 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_001097642.2(GJB1):c.-17G>C single nucleotide variant not provided [RCV000659165] ChrX:71215290 [GRCh38]
ChrX:70435140 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.100A>G (p.Met34Val) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000684965]|Charcot-Marie-Tooth disease [RCV000789244]|not provided [RCV001172018] ChrX:71223807 [GRCh38]
ChrX:70443657 [GRCh37]
ChrX:Xq13.1
pathogenic|uncertain significance
NM_000166.6(GJB1):c.656G>A (p.Arg219His) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000685849]|Charcot-Marie-Tooth disease [RCV000789825] ChrX:71224363 [GRCh38]
ChrX:70444213 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.392T>C (p.Leu131Pro) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000698825]|Charcot-Marie-Tooth disease [RCV000789284] ChrX:71224099 [GRCh38]
ChrX:70443949 [GRCh37]
ChrX:Xq13.1
likely pathogenic|uncertain significance
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
NM_000166.6(GJB1):c.811G>A (p.Ala271Thr) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000687232] ChrX:71224518 [GRCh38]
ChrX:70444368 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.584T>C (p.Leu195Pro) single nucleotide variant Charcot-Marie-Tooth Neuropathy X Type 1 [RCV001198205]|Charcot-Marie-Tooth Neuropathy X [RCV000700136] ChrX:71224291 [GRCh38]
ChrX:70444141 [GRCh37]
ChrX:Xq13.1
likely pathogenic|uncertain significance
NM_000166.6(GJB1):c.569_571dup (p.Thr191_Val192insIle) duplication Charcot-Marie-Tooth Neuropathy X [RCV000691640] ChrX:71224275..71224276 [GRCh38]
ChrX:70444125..70444126 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.232T>G (p.Ser78Ala) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000684885] ChrX:71223939 [GRCh38]
ChrX:70443789 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.59T>C (p.Ile20Thr) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000705914] ChrX:71223766 [GRCh38]
ChrX:70443616 [GRCh37]
ChrX:Xq13.1
likely pathogenic
NM_000166.6(GJB1):c.35G>A (p.Gly12Asp) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000685646] ChrX:71223742 [GRCh38]
ChrX:70443592 [GRCh37]
ChrX:Xq13.1
pathogenic|uncertain significance
NM_000166.6(GJB1):c.540C>G (p.Phe180Leu) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000701205]|Charcot-Marie-Tooth disease [RCV000789922]|not provided [RCV000991855] ChrX:71224247 [GRCh38]
ChrX:70444097 [GRCh37]
ChrX:Xq13.1
likely pathogenic|uncertain significance
NM_000166.6(GJB1):c.26T>C (p.Leu9Ser) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001068645]|not provided [RCV000711354] ChrX:71223733 [GRCh38]
ChrX:70443583 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.319del (p.Arg107fs) deletion not provided [RCV000711356] ChrX:71224026 [GRCh38]
ChrX:70443876 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_000166.6(GJB1):c.602del (p.Cys201fs) deletion not provided [RCV000711359] ChrX:71224309 [GRCh38]
ChrX:70444159 [GRCh37]
ChrX:Xq13.1
likely pathogenic
NM_000166.6(GJB1):c.617T>G (p.Val206Gly) single nucleotide variant not provided [RCV000711360] ChrX:71224324 [GRCh38]
ChrX:70444174 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.842dup (p.Ala282fs) duplication not provided [RCV000711362] ChrX:71224548..71224549 [GRCh38]
ChrX:70444398..70444399 [GRCh37]
ChrX:Xq13.1
likely pathogenic
NM_000166.6(GJB1):c.297_299dup (p.Gln99dup) duplication Charcot-Marie-Tooth Neuropathy X [RCV000694513] ChrX:71224001..71224002 [GRCh38]
ChrX:70443851..70443852 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.120_121insCCACCAGCT (p.Glu41_Ser42insProProAla) insertion Charcot-Marie-Tooth Neuropathy X [RCV000695701] ChrX:71223827..71223828 [GRCh38]
ChrX:70443677..70443678 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.529G>A (p.Val177Met) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000691854]|Charcot-Marie-Tooth disease [RCV000789941] ChrX:71224236 [GRCh38]
ChrX:70444086 [GRCh37]
ChrX:Xq13.1
likely pathogenic|uncertain significance
NM_000166.6(GJB1):c.524dup (p.Asn175fs) duplication Charcot-Marie-Tooth Neuropathy X [RCV000688157]|Charcot-Marie-Tooth disease [RCV000789813]|not provided [RCV000711358] ChrX:71224229..71224230 [GRCh38]
ChrX:70444079..70444080 [GRCh37]
ChrX:Xq13.1
pathogenic|uncertain significance
NM_000166.6(GJB1):c.449T>G (p.Met150Arg) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000703637] ChrX:71224156 [GRCh38]
ChrX:70444006 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.394T>C (p.Trp132Arg) single nucleotide variant Charcot-Marie-Tooth Neuropathy X Type 1 [RCV000755048]|Charcot-Marie-Tooth disease [RCV000789878] ChrX:71224101 [GRCh38]
ChrX:70443951 [GRCh37]
ChrX:Xq13.1
pathogenic|uncertain significance
GRCh37/hg19 Xp11.23-q13.2(chrX:48115450-73424191)x1 copy number loss not provided [RCV000753535] ChrX:48115450..73424191 [GRCh37]
ChrX:Xp11.23-q13.2
pathogenic
GRCh37/hg19 Xq13.1(chrX:70313664-70568458)x2 copy number gain not provided [RCV000753588] ChrX:70313664..70568458 [GRCh37]
ChrX:Xq13.1
benign
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
NM_000166.6(GJB1):c.633C>A (p.Tyr211Ter) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789956]|not provided [RCV000760373] ChrX:71224340 [GRCh38]
ChrX:70444190 [GRCh37]
ChrX:Xq13.1
pathogenic|uncertain significance
NM_000166.6(GJB1):c.269T>C (p.Leu90Pro) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001055661] ChrX:71223976 [GRCh38]
ChrX:70443826 [GRCh37]
ChrX:Xq13.1
likely pathogenic
46,Y,inv(X)(p21.1q13.3) inversion Elevated serum creatine phosphokinase [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3
likely pathogenic
NM_000166.6(GJB1):c.466_467CT[1] (p.Tyr157fs) microsatellite Charcot-Marie-Tooth Neuropathy X Type 1 [RCV000990865] ChrX:71224173..71224174 [GRCh38]
ChrX:70444023..70444024 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_000166.6(GJB1):c.-102G>A single nucleotide variant Charcot-Marie-Tooth Neuropathy X Type 1 [RCV001167300] ChrX:71223250 [GRCh38]
ChrX:70443100 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.689G>A (p.Arg230His) single nucleotide variant not provided [RCV001090309] ChrX:71224396 [GRCh38]
ChrX:70444246 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.69A>G (p.Val23=) single nucleotide variant not provided [RCV000943565] ChrX:71223776 [GRCh38]
ChrX:70443626 [GRCh37]
ChrX:Xq13.1
likely benign
NM_000166.6(GJB1):c.261A>G (p.Pro87=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174171]|not provided [RCV000921123] ChrX:71223968 [GRCh38]
ChrX:70443818 [GRCh37]
ChrX:Xq13.1
likely benign
NM_000166.6(GJB1):c.768T>C (p.Asp256=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000871042] ChrX:71224475 [GRCh38]
ChrX:70444325 [GRCh37]
ChrX:Xq13.1
likely benign
NM_000166.6(GJB1):c.491G>T (p.Arg164Leu) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001050378] ChrX:71224198 [GRCh38]
ChrX:70444048 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.91T>C (p.Phe31Leu) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001050682] ChrX:71223798 [GRCh38]
ChrX:70443648 [GRCh37]
ChrX:Xq13.1
uncertain significance
NC_000023.11:g.(?_71118745)_(71224569_?)dup duplication FG syndrome 1 [RCV001033220] ChrX:70338595..70444419 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.340C>A (p.Pro114Thr) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001045726] ChrX:71224047 [GRCh38]
ChrX:70443897 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.502T>A (p.Cys168Ser) single nucleotide variant not provided [RCV000995948] ChrX:71224209 [GRCh38]
ChrX:70444059 [GRCh37]
ChrX:Xq13.1
likely pathogenic
NM_000166.6(GJB1):c.199C>T (p.Gln67Ter) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001043520] ChrX:71223906 [GRCh38]
ChrX:70443756 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_000166.6(GJB1):c.260C>T (p.Pro87Leu) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789184] ChrX:71223967 [GRCh38]
ChrX:70443817 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.470A>G (p.Tyr157Cys) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789187] ChrX:71224177 [GRCh38]
ChrX:70444027 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.27G>T (p.Leu9Phe) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789193] ChrX:71223734 [GRCh38]
ChrX:70443584 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.472C>G (p.Pro158Ala) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789207] ChrX:71224179 [GRCh38]
ChrX:70444029 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.498_502del (p.Lys167fs) deletion Charcot-Marie-Tooth disease [RCV000789210] ChrX:71224203..71224207 [GRCh38]
ChrX:70444053..70444057 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.530T>C (p.Val177Ala) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789220] ChrX:71224237 [GRCh38]
ChrX:70444087 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.259C>T (p.Pro87Ser) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789232] ChrX:71223966 [GRCh38]
ChrX:70443816 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.166C>T (p.Leu56Phe) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789246] ChrX:71223873 [GRCh38]
ChrX:70443723 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.551C>G (p.Pro184Arg) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789251] ChrX:71224258 [GRCh38]
ChrX:70444108 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.110del (p.Val37fs) deletion Charcot-Marie-Tooth disease [RCV000789260] ChrX:71223817 [GRCh38]
ChrX:70443667 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.713G>A (p.Arg238His) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789267] ChrX:71224420 [GRCh38]
ChrX:70444270 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.381C>G (p.Ile127Met) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789283] ChrX:71224088 [GRCh38]
ChrX:70443938 [GRCh37]
ChrX:Xq13.1
pathogenic|uncertain significance
NM_000166.6(GJB1):c.193T>C (p.Tyr65His) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789290] ChrX:71223900 [GRCh38]
ChrX:70443750 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.233C>T (p.Ser78Phe) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789298] ChrX:71223940 [GRCh38]
ChrX:70443790 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.518G>T (p.Cys173Phe) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789306] ChrX:71224225 [GRCh38]
ChrX:70444075 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.479A>G (p.Tyr160Cys) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789805]|not provided [RCV000991854] ChrX:71224186 [GRCh38]
ChrX:70444036 [GRCh37]
ChrX:Xq13.1
likely pathogenic|uncertain significance
NM_000166.6(GJB1):c.490C>G (p.Arg164Gly) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789806] ChrX:71224197 [GRCh38]
ChrX:70444047 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.610C>G (p.Leu204Val) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000805388]|Charcot-Marie-Tooth disease [RCV000789823] ChrX:71224317 [GRCh38]
ChrX:70444167 [GRCh37]
ChrX:Xq13.1
likely pathogenic|uncertain significance
NM_000166.6(GJB1):c.544T>A (p.Ser182Thr) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789833] ChrX:71224251 [GRCh38]
ChrX:70444101 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.42_43insT (p.Arg15fs) insertion Charcot-Marie-Tooth disease [RCV000789866] ChrX:71223749..71223750 [GRCh38]
ChrX:70443599..70443600 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.300C>G (p.His100Gln) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789868] ChrX:71224007 [GRCh38]
ChrX:70443857 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.48T>G (p.His16Gln) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789873] ChrX:71223755 [GRCh38]
ChrX:70443605 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.545C>G (p.Ser182Cys) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789890] ChrX:71224252 [GRCh38]
ChrX:70444102 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.482C>A (p.Ala161Asp) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789928] ChrX:71224189 [GRCh38]
ChrX:70444039 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.541G>C (p.Val181Leu) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789929]|not provided [RCV001289398] ChrX:71224248 [GRCh38]
ChrX:70444098 [GRCh37]
ChrX:Xq13.1
likely pathogenic|uncertain significance
NM_000166.6(GJB1):c.295C>T (p.Gln99Ter) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789930] ChrX:71224002 [GRCh38]
ChrX:70443852 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.65G>C (p.Arg22Pro) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789933] ChrX:71223772 [GRCh38]
ChrX:70443622 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.610C>T (p.Leu204Phe) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789939] ChrX:71224317 [GRCh38]
ChrX:70444167 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.298C>T (p.His100Tyr) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789948] ChrX:71224005 [GRCh38]
ChrX:70443855 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.146C>A (p.Ser49Tyr) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789957] ChrX:71223853 [GRCh38]
ChrX:70443703 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000166.6(GJB1):c.114_115insC (p.Ala39fs) insertion Charcot-Marie-Tooth disease [RCV000790231] ChrX:71223821..71223822 [GRCh38]
ChrX:70443671..70443672 [GRCh37]
ChrX:Xq13.1
uncertain significance