MPZ (myelin protein zero) - Rat Genome Database

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Gene: MPZ (myelin protein zero) Homo sapiens
Analyze
Symbol: MPZ
Name: myelin protein zero
RGD ID: 737128
HGNC Page HGNC:7225
Description: Involved in cell aggregation; cell-cell adhesion via plasma-membrane adhesion molecules; and myelination. Located in plasma membrane. Implicated in Charcot-Marie-Tooth disease (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: Charcot-Marie-Tooth neuropathy 1B; CHM; CHN2; CMT1; CMT1B; CMT2I; CMT2J; CMT4E; CMTDI3; CMTDID; DSS; HMSNIB; MPP; myelin peripheral protein; myelin protein P0; myelin protein zero (Charcot-Marie-Tooth neuropathy 1B); P0
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
GRCh381161,303,600 - 161,309,968 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1161,304,735 - 161,309,968 (-)EnsemblGRCh38hg38GRCh38
GRCh371161,274,525 - 161,279,758 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361159,541,151 - 159,546,377 (-)NCBINCBI36Build 36hg18NCBI36
Build 341158,087,599 - 158,092,817NCBI
Celera1134,341,666 - 134,346,903 (-)NCBICelera
Cytogenetic Map1q23.3NCBI
HuRef1132,631,395 - 132,636,601 (-)NCBIHuRef
CHM1_11162,670,753 - 162,675,990 (-)NCBICHM1_1
T2T-CHM13v2.01160,441,004 - 160,447,413 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
atrophic muscular disease  (IAGP)
autoimmune interstitial lung, joint, and kidney disease  (IAGP)
autosomal dominant distal hereditary motor neuronopathy 14  (IAGP)
autosomal dominant distal hereditary motor neuronopathy 2  (IAGP)
Carney-Stratakis syndrome  (IAGP)
Charcot-Marie-Tooth disease  (EXP,IAGP)
Charcot-Marie-Tooth disease dominant intermediate D  (EXP,IAGP)
Charcot-Marie-Tooth disease intermediate type  (IAGP)
Charcot-Marie-Tooth disease type 1  (IAGP)
Charcot-Marie-Tooth disease type 1B  (IAGP,ISS)
Charcot-Marie-Tooth disease type 2I  (EXP,IAGP)
Charcot-Marie-Tooth disease type 2J  (EXP,IAGP)
Charcot-Marie-Tooth disease type 3  (IAGP,ISS)
Charcot-Marie-Tooth disease type 4E  (IAGP)
Charcot-Marie-Tooth Disease, Dominant Intermediate 3  (IAGP)
Congenital Hypomyelinating Neuropathy 2  (IAGP)
diabetic neuropathy  (ISO)
distal myopathy  (IAGP)
gastrointestinal stromal tumor  (IAGP)
genetic disease  (IAGP)
Hereditary Neoplastic Syndromes  (IAGP)
Hereditary Paraganglioma-Pheochromocytoma Syndromes  (IAGP)
Hyperalgesia  (EXP)
intellectual disability  (IAGP)
Islet Cell Tumor Syndrome  (IAGP)
motor neuron disease  (IAGP)
motor peripheral neuropathy  (EXP)
Nerve Degeneration  (EXP)
neuropathy  (IAGP,ISS)
paraganglioma  (IAGP)
Paragangliomas 3  (IAGP)
parathyroid carcinoma  (IAGP)
PCWH syndrome  (ISS)
peripheral nervous system disease  (IAGP)
pheochromocytoma  (IAGP)
primary cerebellar degeneration  (IAGP)
sciatic neuropathy  (ISO)
sensory peripheral neuropathy  (IAGP)
Talipes Cavus  (IAGP)
Tremor  (IAGP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
basolateral plasma membrane  (ISO)
cellular_component  (ND)
membrane  (IEA)
myelin sheath  (IEA)
plasma membrane  (IBA,IDA,IEA,ISO,NAS,TAS)
synapse  (IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal pupil morphology  (IAGP)
Abnormality of the immune system  (IAGP)
Action tremor  (IAGP)
Acute demyelinating polyneuropathy  (IAGP)
Areflexia  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Axonal degeneration/regeneration  (IAGP)
Babinski sign  (IAGP)
Broad-based gait  (IAGP)
Clumsiness  (IAGP)
Cold-induced muscle cramps  (IAGP)
Congenital onset  (IAGP)
Decreased fetal movement  (IAGP)
Decreased motor nerve conduction velocity  (IAGP)
Decreased nerve conduction velocity  (IAGP)
Decreased number of peripheral myelinated nerve fibers  (IAGP)
Decreased sensory nerve conduction velocity  (IAGP)
Delayed ability to stand  (IAGP)
Delayed ability to walk  (IAGP)
Difficulty walking  (IAGP)
Distal amyotrophy  (IAGP)
Distal lower limb amyotrophy  (IAGP)
Distal lower limb muscle weakness  (IAGP)
Distal muscle weakness  (IAGP)
Distal sensory impairment  (IAGP)
Dysphagia  (IAGP)
Elevated circulating creatine kinase concentration  (IAGP)
EMG: neuropathic changes  (IAGP)
Facial diplegia  (IAGP)
Foot dorsiflexor weakness  (IAGP)
Frequent falls  (IAGP)
Gait ataxia  (IAGP)
Gastrointestinal stroma tumor  (IAGP)
Genu valgum  (IAGP)
Hammertoe  (IAGP)
Hearing impairment  (IAGP)
Hypertrophic nerve changes  (IAGP)
Hypokinesia  (IAGP)
Hyporeflexia  (IAGP)
Hypotonia  (IAGP)
Impaired distal vibration sensation  (IAGP)
Impaired pain sensation  (IAGP)
Impaired temperature sensation  (IAGP)
Impaired vibratory sensation  (IAGP)
Inability to walk  (IAGP)
Increased CSF protein concentration  (IAGP)
Infantile onset  (IAGP)
Insidious onset  (IAGP)
Intellectual disability  (IAGP)
Intrinsic hand muscle atrophy  (IAGP)
Juvenile onset  (IAGP)
Kyphoscoliosis  (IAGP)
Limb ataxia  (IAGP)
Limb muscle weakness  (IAGP)
Lower limb muscle weakness  (IAGP)
Middle age onset  (IAGP)
Motor delay  (IAGP)
Muscle weakness  (IAGP)
Myelin outfoldings  (IAGP)
Myelin tomacula  (IAGP)
Nystagmus  (IAGP)
Onion bulb formation  (IAGP)
Parathyroid carcinoma  (IAGP)
Peripheral axonal neuropathy  (IAGP)
Peripheral demyelination  (IAGP)
Peripheral dysmyelination  (IAGP)
Peripheral neuropathy  (IAGP)
Persistent head lag  (IAGP)
Pes cavus  (IAGP)
Pes planus  (IAGP)
Pheochromocytoma  (IAGP)
Poor head control  (IAGP)
Postural tremor  (IAGP)
Progressive sensorineural hearing impairment  (IAGP)
Proximal muscle weakness  (IAGP)
Recurrent coughing spasms  (IAGP)
Respiratory insufficiency due to muscle weakness  (IAGP)
Scoliosis  (IAGP)
Segmental peripheral demyelination/remyelination  (IAGP)
Sensorimotor neuropathy  (IAGP)
Sensorineural hearing impairment  (IAGP)
Sensory ataxia  (IAGP)
Sensory neuropathy  (IAGP)
Severe muscular hypotonia  (IAGP)
Skeletal muscle atrophy  (IAGP)
Skeletal muscle hypertrophy  (IAGP)
Slow pupillary light response  (IAGP)
Slowly progressive  (IAGP)
Somatic sensory dysfunction  (IAGP)
Split hand  (IAGP)
Steppage gait  (IAGP)
Talipes equinovarus  (IAGP)
Tip-toe gait  (IAGP)
Tongue fasciculations  (IAGP)
Tonic pupil  (IAGP)
Tremor  (IAGP)
Ulnar claw  (IAGP)
Unsteady gait  (IAGP)
Upper limb muscle weakness  (IAGP)
Upper limb postural tremor  (IAGP)
Urinary bladder sphincter dysfunction  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Two amino-acid substitutions in the myelin protein zero gene of a case of Charcot-Marie-Tooth disease associated with light-near dissociation. Bienfait HM, etal., Neuromuscul Disord 2002 Mar;12(3):281-5.
2. Diabetes-induced myelin abnormalities are associated with an altered lipid pattern: protective effects of LXR activation. Cermenati G, etal., J Lipid Res. 2012 Feb;53(2):300-10. doi: 10.1194/jlr.M021188. Epub 2011 Dec 7.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val). Misu K, etal., J Neurol Neurosurg Psychiatry 2000 Dec;69(6):806-11.
5. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
9. Electrical stimulation enhances peripheral nerve regeneration after crush injury in rats. Zhang X, etal., Mol Med Rep. 2013 May;7(5):1523-7. doi: 10.3892/mmr.2013.1395. Epub 2013 Mar 26.
Additional References at PubMed
PMID:1719967   PMID:3467805   PMID:6099985   PMID:7503936   PMID:7504284   PMID:7505151   PMID:7506095   PMID:7509228   PMID:7511317   PMID:7514564   PMID:7518101   PMID:7527371  
PMID:7530295   PMID:7530550   PMID:7550231   PMID:7688964   PMID:7693129   PMID:7693130   PMID:7694726   PMID:7762451   PMID:8630052   PMID:8664899   PMID:8797476   PMID:8816708  
PMID:8835320   PMID:8844219   PMID:8889548   PMID:8990016   PMID:9187667   PMID:9217235   PMID:9222756   PMID:9595994   PMID:9633821   PMID:9888385   PMID:10071056   PMID:10212299  
PMID:10214757   PMID:10329755   PMID:10406984   PMID:10545037   PMID:10553995   PMID:10737979   PMID:10923043   PMID:10965800   PMID:11437164   PMID:11438991   PMID:11445635   PMID:11545686  
PMID:11673479   PMID:11726686   PMID:11835375   PMID:12207932   PMID:12211648   PMID:12221176   PMID:12402337   PMID:12477701   PMID:12477932   PMID:12497641   PMID:12845552   PMID:12911457  
PMID:12940837   PMID:12953275   PMID:14638973   PMID:14711881   PMID:15036333   PMID:15050444   PMID:15094849   PMID:15159512   PMID:15184631   PMID:15241803   PMID:15249646   PMID:15261887  
PMID:15326256   PMID:15489334   PMID:15555916   PMID:15596778   PMID:15729519   PMID:16162811   PMID:16169070   PMID:16198109   PMID:16279991   PMID:16344560   PMID:16398147   PMID:16414078  
PMID:16488608   PMID:16543539   PMID:16775239   PMID:16856127   PMID:17030746   PMID:17142269   PMID:17143884   PMID:17602703   PMID:17663472   PMID:17825553   PMID:17940173   PMID:18209201  
PMID:18337304   PMID:18422810   PMID:18663734   PMID:19259128   PMID:19293842   PMID:19475438   PMID:19882637   PMID:19906531   PMID:19928689   PMID:19950375   PMID:20215982   PMID:20301384  
PMID:20301462   PMID:20301532   PMID:20456450   PMID:20461396   PMID:20516806   PMID:20544920   PMID:20556410   PMID:20621479   PMID:21107784   PMID:21179557   PMID:21503568   PMID:21787890  
PMID:21873635   PMID:21971831   PMID:21988832   PMID:22018721   PMID:22222859   PMID:22243284   PMID:22275255   PMID:22433810   PMID:22457349   PMID:22490868   PMID:22589738   PMID:22622165  
PMID:22633464   PMID:22704856   PMID:22734905   PMID:23197742   PMID:23279346   PMID:23743332   PMID:24028194   PMID:24762602   PMID:24819634   PMID:25720167   PMID:26135405   PMID:26310628  
PMID:26406915   PMID:27639257   PMID:27862672   PMID:29081003   PMID:29465609   PMID:29627640   PMID:29987050   PMID:30639242   PMID:30677751   PMID:30679613   PMID:30755303   PMID:31173589  
PMID:32506583   PMID:32829291   PMID:33179255   PMID:33960567   PMID:34205075   PMID:35174662   PMID:35944360   PMID:36203352   PMID:36567457   PMID:37372933   PMID:37542466   PMID:37581289  
PMID:38117590  


Genomics

Comparative Map Data
MPZ
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381161,303,600 - 161,309,968 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1161,304,735 - 161,309,968 (-)EnsemblGRCh38hg38GRCh38
GRCh371161,274,525 - 161,279,758 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361159,541,151 - 159,546,377 (-)NCBINCBI36Build 36hg18NCBI36
Build 341158,087,599 - 158,092,817NCBI
Celera1134,341,666 - 134,346,903 (-)NCBICelera
Cytogenetic Map1q23.3NCBI
HuRef1132,631,395 - 132,636,601 (-)NCBIHuRef
CHM1_11162,670,753 - 162,675,990 (-)NCBICHM1_1
T2T-CHM13v2.01160,441,004 - 160,447,413 (-)NCBIT2T-CHM13v2.0
Mpz
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391170,978,282 - 170,988,699 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1170,978,280 - 170,988,699 (+)EnsemblGRCm39 Ensembl
GRCm381171,150,713 - 171,161,130 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1171,150,711 - 171,161,130 (+)EnsemblGRCm38mm10GRCm38
MGSCv371173,080,844 - 173,091,254 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361172,987,388 - 172,997,798 (+)NCBIMGSCv36mm8
Celera1173,598,959 - 173,609,357 (+)NCBICelera
Cytogenetic Map1H3NCBI
cM Map179.05NCBI
Mpz
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81386,103,290 - 86,109,156 (+)NCBIGRCr8
mRatBN7.21383,570,811 - 83,576,680 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1383,570,811 - 83,576,679 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1386,076,519 - 86,082,418 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01387,474,755 - 87,480,657 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01384,706,501 - 84,712,211 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01389,524,204 - 89,530,070 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1389,524,329 - 89,530,068 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01394,151,850 - 94,156,749 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41387,040,479 - 87,045,378 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11387,229,362 - 87,234,262 (+)NCBI
Celera1383,202,202 - 83,207,991 (+)NCBICelera
Cytogenetic Map13q24NCBI
Mpz
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495546813,041,011 - 13,047,284 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495546813,041,911 - 13,047,026 (-)NCBIChiLan1.0ChiLan1.0
MPZ
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2188,543,449 - 88,573,944 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1188,233,764 - 88,264,228 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01136,691,245 - 136,720,958 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11140,603,609 - 140,631,273 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1140,626,039 - 140,631,273 (-)Ensemblpanpan1.1panPan2
MPZ
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13821,205,339 - 21,210,439 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3821,205,107 - 21,210,451 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3821,280,251 - 21,285,323 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03821,323,207 - 21,328,277 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3821,323,098 - 21,328,270 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13821,220,355 - 21,225,416 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03821,626,466 - 21,631,518 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03822,034,738 - 22,039,792 (+)NCBIUU_Cfam_GSD_1.0
Mpz
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244050587,375,284 - 7,380,521 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936903583,942 - 589,160 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936903583,942 - 589,160 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MPZ
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl489,169,311 - 89,179,925 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1489,174,107 - 89,179,556 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2497,031,478 - 97,036,934 (+)NCBISscrofa10.2Sscrofa10.2susScr3
MPZ
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1202,662,163 - 2,668,393 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl202,665,737 - 2,668,393 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660381,720,210 - 1,725,435 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mpz
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624794100,824 - 106,444 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624794101,095 - 106,508 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MPZ
489 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000530.8(MPZ):c.266T>A (p.Ile89Asn) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001339130]|not specified [RCV000521368] Chr1:161306890 [GRCh38]
Chr1:161276680 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.274G>A (p.Val92Met) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001323340]|not specified [RCV000519851] Chr1:161306882 [GRCh38]
Chr1:161276672 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.646-7C>G single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000531660]|not provided [RCV001537849]|not specified [RCV000518200] Chr1:161305984 [GRCh38]
Chr1:161275774 [GRCh37]
Chr1:1q23.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000530.8(MPZ):c.400G>A (p.Asp134Asn) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789467]|Charcot-Marie-Tooth disease type 1B [RCV002289708]|Charcot-Marie-Tooth disease, type I [RCV002525120]|not provided [RCV000519245] Chr1:161306756 [GRCh38]
Chr1:161276546 [GRCh37]
Chr1:1q23.3
likely pathogenic|uncertain significance
NM_000530.8(MPZ):c.449-4C>T single nucleotide variant not specified [RCV000516675] Chr1:161306468 [GRCh38]
Chr1:161276258 [GRCh37]
Chr1:1q23.3
benign
NM_000530.8(MPZ):c.104A>G (p.Asp35Gly) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001212136]|not specified [RCV000517150] Chr1:161307388 [GRCh38]
Chr1:161277178 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.394C>G (p.Pro132Ala) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000554187]|not provided [RCV003233703] Chr1:161306762 [GRCh38]
Chr1:161276552 [GRCh37]
Chr1:1q23.3
pathogenic|uncertain significance
NM_000530.8(MPZ):c.662C>T (p.Ala221Val) single nucleotide variant Charcot-Marie-Tooth disease type 2I [RCV001535775]|Charcot-Marie-Tooth disease, type I [RCV000552351] Chr1:161305961 [GRCh38]
Chr1:161275751 [GRCh37]
Chr1:1q23.3
uncertain significance|not provided
MPZ, 3-BP DEL, SER34DEL deletion Charcot-Marie-Tooth disease type 1B [RCV000015231]|Charcot-Marie-Tooth disease, demyelinating, type 1b [RCV000015231]|Charcot-Marie-Tooth disease, type IB [RCV000015231] Chr1:1q22 pathogenic
NM_000530.8(MPZ):c.646-7_647delinsGCAGGAGAG indel Charcot-Marie-Tooth disease type 1B [RCV000015234] Chr1:161305976..161305984 [GRCh38]
Chr1:161275766..161275774 [GRCh37]
Chr1:1q23.3
pathogenic
MPZ, 1-BP DEL deletion Autosomal recessive Dejerine-Sottas syndrome [RCV000015254] Chr1:1q22 pathogenic
NM_000530.6:c.550_552delinsG indel Neuropathy, congenital hypomyelinating, 2 [RCV000015256] Chr1:1q22 pathogenic
MPZ, IVS4DS, T-G, +2 single nucleotide variant Charcot-Marie-Tooth disease type 1B [RCV000015261]|Charcot-Marie-Tooth disease, demyelinating, type 1b [RCV000015261]|Charcot-Marie-Tooth disease, type IB [RCV000015261] Chr1:1q22 pathogenic
NM_000530.8(MPZ):c.276G>A (p.Val92=) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790070]|Charcot-Marie-Tooth disease type 1B [RCV000015264]|Charcot-Marie-Tooth disease, type I [RCV000795131] Chr1:161306880 [GRCh38]
Chr1:161276670 [GRCh37]
Chr1:1q23.3
pathogenic|likely pathogenic|uncertain significance
D195Y single nucleotide variant Charcot-Marie-Tooth disease, demyelinating, type 1b [RCV000015265] Chr1:1q22 pathogenic
NM_000530.8(MPZ):c.511T>A (p.Leu171Met) single nucleotide variant not provided [RCV001508017] Chr1:161306402 [GRCh38]
Chr1:161276192 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.385G>A (p.Val129Ile) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000638162]|Inborn genetic diseases [RCV002358399]|not provided [RCV000518403] Chr1:161306771 [GRCh38]
Chr1:161276561 [GRCh37]
Chr1:1q23.3
likely pathogenic|uncertain significance
NM_000530.8(MPZ):c.193A>G (p.Thr65Ala) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790082]|Charcot-Marie-Tooth disease, type I [RCV002525053]|not specified [RCV000516315] Chr1:161307299 [GRCh38]
Chr1:161277089 [GRCh37]
Chr1:1q23.3
likely pathogenic|uncertain significance
NM_000530.8(MPZ):c.210C>T (p.Pro70=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000875743]|Inborn genetic diseases [RCV002420298]|not specified [RCV000517067] Chr1:161307282 [GRCh38]
Chr1:161277072 [GRCh37]
Chr1:1q23.3
benign|likely benign
NM_000530.8(MPZ):c.418T>A (p.Ser140Thr) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789485]|Charcot-Marie-Tooth disease, type I [RCV000703449]|not provided [RCV000518262]|not specified [RCV001002532] Chr1:161306738 [GRCh38]
Chr1:161276528 [GRCh37]
Chr1:1q23.3
pathogenic|likely pathogenic|uncertain significance
NM_000530.8(MPZ):c.286A>G (p.Lys96Glu) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789440]|Charcot-Marie-Tooth disease type 1B [RCV000015229]|Charcot-Marie-Tooth disease, type I [RCV000812845] Chr1:161306870 [GRCh38]
Chr1:161276660 [GRCh37]
Chr1:1q23.3
pathogenic|uncertain significance
NM_000530.8(MPZ):c.270C>A (p.Asp90Glu) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789441]|Charcot-Marie-Tooth disease type 1B [RCV000015230]|Charcot-Marie-Tooth disease, type I [RCV000704216] Chr1:161306886 [GRCh38]
Chr1:161276676 [GRCh37]
Chr1:1q23.3
pathogenic|uncertain significance
NM_000530.8(MPZ):c.188C>G (p.Ser63Cys) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000803240]|Dejerine-Sottas disease [RCV000789439]|Dejerine-Sottas syndrome, autosomal dominant [RCV000015232]|not provided [RCV000390750] Chr1:161307304 [GRCh38]
Chr1:161277094 [GRCh37]
Chr1:1q23.3
pathogenic|uncertain significance
NM_000530.8(MPZ):c.499G>C (p.Gly167Arg) single nucleotide variant Charcot-Marie-Tooth disease type 2I [RCV000198029]|Charcot-Marie-Tooth disease, type I [RCV001851867]|Dejerine-Sottas disease [RCV000032123]|Dejerine-Sottas syndrome, autosomal dominant [RCV000015233] Chr1:161306414 [GRCh38]
Chr1:161276204 [GRCh37]
Chr1:1q23.3
pathogenic|conflicting interpretations of pathogenicity
NM_000530.8(MPZ):c.404T>C (p.Ile135Thr) single nucleotide variant Charcot-Marie-Tooth disease type 1B [RCV000015235]|Dejerine-Sottas disease [RCV001807729]|not provided [RCV000425572] Chr1:161306752 [GRCh38]
Chr1:161276542 [GRCh37]
Chr1:1q23.3
pathogenic|likely pathogenic
NM_000530.8(MPZ):c.409G>A (p.Gly137Ser) single nucleotide variant Charcot-Marie-Tooth disease type 1B [RCV000015236]|Charcot-Marie-Tooth disease, type I [RCV000462311]|not provided [RCV000712317] Chr1:161306747 [GRCh38]
Chr1:161276537 [GRCh37]
Chr1:1q23.3
pathogenic|likely pathogenic
NM_000530.8(MPZ):c.293G>C (p.Arg98Pro) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790115]|Charcot-Marie-Tooth disease type 1B [RCV000015237]|Charcot-Marie-Tooth disease, type I [RCV000638160]|Inborn genetic diseases [RCV002433456]|not provided [RCV001811142] Chr1:161306863 [GRCh38]
Chr1:161276653 [GRCh37]
Chr1:1q23.3
pathogenic|likely pathogenic|uncertain significance
NM_000530.8(MPZ):c.292C>T (p.Arg98Cys) single nucleotide variant Charcot-Marie-Tooth disease type 1B [RCV000015238]|Charcot-Marie-Tooth disease, type I [RCV000548074]|not provided [RCV000237048] Chr1:161306864 [GRCh38]
Chr1:161276654 [GRCh37]
Chr1:1q23.3
pathogenic
NM_000530.8(MPZ):c.293G>A (p.Arg98His) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173692]|Charcot-Marie-Tooth disease type 1B [RCV000015239]|Charcot-Marie-Tooth disease, type I [RCV000196172]|Decreased nerve conduction velocity [RCV000415463]|Inborn genetic diseases [RCV002433457]|MPZ-related condition [RCV003398515]|not provided [RCV000376287] Chr1:161306863 [GRCh38]
Chr1:161276653 [GRCh37]
Chr1:1q23.3
pathogenic|likely pathogenic
NM_000530.8(MPZ):c.188C>T (p.Ser63Phe) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173697]|Charcot-Marie-Tooth disease type 1B [RCV000015240]|Charcot-Marie-Tooth disease, type I [RCV001224917] Chr1:161307304 [GRCh38]
Chr1:161277094 [GRCh37]
Chr1:1q23.3
pathogenic|likely pathogenic
NM_000530.8(MPZ):c.643C>T (p.Gln215Ter) single nucleotide variant Neuropathy, congenital hypomyelinating, 2 [RCV000015241] Chr1:161306110 [GRCh38]
Chr1:161275900 [GRCh37]
Chr1:1q23.3
pathogenic
NM_000530.8(MPZ):c.242A>G (p.His81Arg) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789479]|Charcot-Marie-Tooth disease type 1B [RCV000015242]|Charcot-Marie-Tooth disease, type I [RCV001385507]|not provided [RCV000518134] Chr1:161306914 [GRCh38]
Chr1:161276704 [GRCh37]
Chr1:1q23.3
pathogenic|uncertain significance
NM_000530.8(MPZ):c.371C>T (p.Thr124Met) single nucleotide variant Charcot-Marie-Tooth disease [RCV000192248]|Charcot-Marie-Tooth disease dominant intermediate D [RCV001262744]|Charcot-Marie-Tooth disease type 1B [RCV000015245]|Charcot-Marie-Tooth disease type 2I [RCV000763262]|Charcot-Marie-Tooth disease type 2J [RCV000015244]|Charcot-Marie-Tooth disease, type I [RCV000638155]|Distal hereditary motor neuropathy type 2 [RCV002245981]|Inborn genetic diseases [RCV002345245]|not provided [RCV000517355] Chr1:161306785 [GRCh38]
Chr1:161276575 [GRCh37]
Chr1:1q23.3
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000530.8(MPZ):c.103G>T (p.Asp35Tyr) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173698]|Charcot-Marie-Tooth disease dominant intermediate D [RCV000015247]|Charcot-Marie-Tooth disease, type I [RCV000638171]|not provided [RCV001552371] Chr1:161307389 [GRCh38]
Chr1:161277179 [GRCh37]
Chr1:1q23.3
pathogenic|likely pathogenic|uncertain significance
NM_000530.8(MPZ):c.224A>T (p.Asp75Val) single nucleotide variant Charcot-Marie-Tooth disease type 1B [RCV000190346]|Charcot-Marie-Tooth disease type 2J [RCV000015248]|Charcot-Marie-Tooth disease, type I [RCV001070451] Chr1:161307268 [GRCh38]
Chr1:161277058 [GRCh37]
Chr1:1q23.3
pathogenic|not provided
NM_000530.8(MPZ):c.131C>T (p.Ser44Phe) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790099]|Charcot-Marie-Tooth disease type 1B [RCV000190345]|Charcot-Marie-Tooth disease type 2I [RCV000015249]|Charcot-Marie-Tooth disease, type I [RCV000638152]|Inborn genetic diseases [RCV002381251]|not provided [RCV001093014] Chr1:161307361 [GRCh38]
Chr1:161277151 [GRCh37]
Chr1:1q23.3
pathogenic|uncertain significance|not provided
NM_000530.8(MPZ):c.393C>A (p.Asn131Lys) single nucleotide variant Charcot-Marie-Tooth disease type 1B [RCV000192587]|Charcot-Marie-Tooth disease, type I [RCV001060346]|Roussy-Lévy syndrome [RCV000015250]|not provided [RCV000517209] Chr1:161306763 [GRCh38]
Chr1:161276553 [GRCh37]
Chr1:1q23.3
pathogenic|not provided
NM_000530.8(MPZ):c.308G>A (p.Gly103Glu) single nucleotide variant Charcot-Marie-Tooth disease type 1B [RCV000015251]|Charcot-Marie-Tooth disease, type I [RCV000536804]|Inborn genetic diseases [RCV002321483]|not provided [RCV001818160] Chr1:161306848 [GRCh38]
Chr1:161276638 [GRCh37]
Chr1:1q23.3
pathogenic|likely pathogenic|uncertain significance
NM_000530.8(MPZ):c.233C>T (p.Ser78Leu) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173691]|Charcot-Marie-Tooth disease, type 1b, with focally folded myelin sheaths [RCV000015252]|Charcot-Marie-Tooth disease, type I [RCV000546842]|not provided [RCV000436362] Chr1:161307259 [GRCh38]
Chr1:161277049 [GRCh37]
Chr1:1q23.3
pathogenic
NM_000530.8(MPZ):c.184A>T (p.Ile62Phe) single nucleotide variant Charcot-Marie-Tooth disease, type 1b, with focally folded myelin sheaths [RCV000015253] Chr1:161307308 [GRCh38]
Chr1:161277098 [GRCh37]
Chr1:1q23.3
pathogenic
NM_000530.8(MPZ):c.434A>C (p.Tyr145Ser) single nucleotide variant Charcot-Marie-Tooth disease type 1B [RCV000015255]|Charcot-Marie-Tooth disease type 2I [RCV000763260]|Charcot-Marie-Tooth disease, type I [RCV000234112]|MPZ-related condition [RCV003398516]|not provided [RCV000235936] Chr1:161306722 [GRCh38]
Chr1:161276512 [GRCh37]
Chr1:1q23.3
pathogenic
NM_000530.8(MPZ):c.178G>C (p.Asp60His) single nucleotide variant Charcot-Marie-Tooth disease type 1B [RCV002226649]|Charcot-Marie-Tooth disease type 2I [RCV000015257]|Charcot-Marie-Tooth disease, type I [RCV002514101] Chr1:161307314 [GRCh38]
Chr1:161277104 [GRCh37]
Chr1:1q23.3
pathogenic|likely pathogenic|uncertain significance
NM_000530.8(MPZ):c.186C>G (p.Ile62Met) single nucleotide variant Charcot-Marie-Tooth disease type 2I [RCV000015258]|Charcot-Marie-Tooth disease, type I [RCV000799870]|Roussy-Lévy syndrome [RCV001196641]|Tip-toe gait [RCV003318543] Chr1:161307306 [GRCh38]
Chr1:161277096 [GRCh37]
Chr1:1q23.3
pathogenic|likely pathogenic|uncertain significance
NM_000530.8(MPZ):c.290A>T (p.Glu97Val) single nucleotide variant Charcot-Marie-Tooth disease type 2J [RCV000015259]|Charcot-Marie-Tooth disease, type I [RCV001851868] Chr1:161306866 [GRCh38]
Chr1:161276656 [GRCh37]
Chr1:1q23.3
pathogenic|uncertain significance
NM_000530.8(MPZ):c.371C>A (p.Thr124Lys) single nucleotide variant Neuropathy, congenital hypomyelinating, 2 [RCV000015260] Chr1:161306785 [GRCh38]
Chr1:161276575 [GRCh37]
Chr1:1q23.3
pathogenic
NM_000530.8(MPZ):c.367G>A (p.Gly123Ser) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790090]|Charcot-Marie-Tooth disease type 1B [RCV000015262] Chr1:161306789 [GRCh38]
Chr1:161276579 [GRCh37]
Chr1:1q23.3
pathogenic|uncertain significance
NM_000530.8(MPZ):c.313C>A (p.Pro105Thr) single nucleotide variant Charcot-Marie-Tooth disease type 2J [RCV000015263]|Charcot-Marie-Tooth disease, type I [RCV001308867]|not provided [RCV000223657] Chr1:161306843 [GRCh38]
Chr1:161276633 [GRCh37]
Chr1:1q23.3
pathogenic|likely pathogenic|uncertain significance
NM_000530.6(MPZ):c.67+364T>G single nucleotide variant Lung cancer [RCV000089842] Chr1:161309475 [GRCh38]
Chr1:161279265 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.89T>C (p.Ile30Thr) single nucleotide variant Charcot-Marie-Tooth disease type 1B [RCV000033911]|Charcot-Marie-Tooth disease, type I [RCV001051613]|Dejerine-Sottas disease [RCV000789434] Chr1:161307403 [GRCh38]
Chr1:161277193 [GRCh37]
Chr1:1q23.3
pathogenic|likely pathogenic|uncertain significance|not provided
NM_000530.8(MPZ):c.175T>A (p.Ser59Thr) single nucleotide variant Charcot-Marie-Tooth disease type 1B [RCV000033912] Chr1:161307317 [GRCh38]
Chr1:161277107 [GRCh37]
Chr1:1q23.3
pathogenic|not provided
NM_000530.8(MPZ):c.241C>T (p.His81Tyr) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789424]|Charcot-Marie-Tooth disease type 1B [RCV000033913] Chr1:161306915 [GRCh38]
Chr1:161276705 [GRCh37]
Chr1:1q23.3
pathogenic|likely pathogenic|uncertain significance|not provided
NM_000530.8(MPZ):c.244T>C (p.Tyr82His) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789426]|Charcot-Marie-Tooth disease dominant intermediate D [RCV003335061]|Charcot-Marie-Tooth disease type 1B [RCV000033914]|Charcot-Marie-Tooth disease type 2I [RCV003444056]|Charcot-Marie-Tooth disease, type I [RCV000693764]|not provided [RCV001699102] Chr1:161306912 [GRCh38]
Chr1:161276702 [GRCh37]
Chr1:1q23.3
pathogenic|likely pathogenic|uncertain significance|not provided
NM_000530.8(MPZ):c.266T>C (p.Ile89Thr) single nucleotide variant Charcot-Marie-Tooth disease type 1B [RCV000033915] Chr1:161306890 [GRCh38]
Chr1:161276680 [GRCh37]
Chr1:1q23.3
pathogenic|not provided
NM_000530.8(MPZ):c.306del (p.Asp104fs) deletion Autosomal recessive Dejerine-Sottas syndrome [RCV002277116]|Charcot-Marie-Tooth disease [RCV000789496]|Charcot-Marie-Tooth disease dominant intermediate D [RCV001705641]|Charcot-Marie-Tooth disease type 1B [RCV000033916]|Charcot-Marie-Tooth disease, type I [RCV001852684] Chr1:161306850 [GRCh38]
Chr1:161276640 [GRCh37]
Chr1:1q23.3
pathogenic|likely pathogenic|uncertain significance|not provided
NM_000530.8(MPZ):c.337G>T (p.Val113Phe) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789425]|Charcot-Marie-Tooth disease type 1B [RCV000033917]|Charcot-Marie-Tooth disease, type I [RCV001208935]|not provided [RCV000657923] Chr1:161306819 [GRCh38]
Chr1:161276609 [GRCh37]
Chr1:1q23.3
pathogenic|uncertain significance
NM_000530.8(MPZ):c.389A>G (p.Lys130Arg) single nucleotide variant Charcot-Marie-Tooth disease type 1B [RCV000033918]|Charcot-Marie-Tooth disease, type I [RCV000819474]|not provided [RCV000516461] Chr1:161306767 [GRCh38]
Chr1:161276557 [GRCh37]
Chr1:1q23.3
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000530.8(MPZ):c.487G>C (p.Gly163Arg) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789486]|Charcot-Marie-Tooth disease type 1B [RCV000033919]|Charcot-Marie-Tooth disease, type I [RCV000205003]|Inborn genetic diseases [RCV002326719]|not provided [RCV000217802] Chr1:161306426 [GRCh38]
Chr1:161276216 [GRCh37]
Chr1:1q23.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000530.8(MPZ):c.588dup (p.Met197fs) duplication Charcot-Marie-Tooth disease type 1B [RCV000033920] Chr1:161306164..161306165 [GRCh38]
Chr1:161275954..161275955 [GRCh37]
Chr1:1q23.3
pathogenic|not provided
NM_000530.8(MPZ):c.670G>T (p.Asp224Tyr) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789431]|Charcot-Marie-Tooth disease type 1B [RCV000033921]|Charcot-Marie-Tooth disease, type I [RCV000700463]|Inborn genetic diseases [RCV002362608] Chr1:161305953 [GRCh38]
Chr1:161275743 [GRCh37]
Chr1:1q23.3
pathogenic|likely pathogenic|uncertain significance
NM_000530.8(MPZ):c.164G>T (p.Ser55Ile) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790077]|Charcot-Marie-Tooth disease type 1B [RCV000033922] Chr1:161307328 [GRCh38]
Chr1:161277118 [GRCh37]
Chr1:1q23.3
pathogenic|uncertain significance|not provided
NM_000530.8(MPZ):c.347A>G (p.Asn116Ser) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789688]|Charcot-Marie-Tooth disease type 1B [RCV000033923]|Charcot-Marie-Tooth disease type 2I [RCV001807746]|Charcot-Marie-Tooth disease, type I [RCV001852685]|Inborn genetic diseases [RCV002453291]|not provided [RCV000994155] Chr1:161306809 [GRCh38]
Chr1:161276599 [GRCh37]
Chr1:1q23.3
pathogenic|uncertain significance|not provided
NM_000530.8(MPZ):c.645+1G>T single nucleotide variant Charcot-Marie-Tooth disease [RCV000790079]|Charcot-Marie-Tooth disease type 1B [RCV000033924] Chr1:161306107 [GRCh38]
Chr1:161275897 [GRCh37]
Chr1:1q23.3
pathogenic|uncertain significance|not provided
NM_000530.8(MPZ):c.649C>T (p.Pro217Ser) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790078]|Charcot-Marie-Tooth disease type 1B [RCV000033925] Chr1:161305974 [GRCh38]
Chr1:161275764 [GRCh37]
Chr1:1q23.3
pathogenic|uncertain significance|not provided
GRCh38/hg38 1q23.3(chr1:160866658-161315114)x3 copy number gain See cases [RCV000051555] Chr1:160866658..161315114 [GRCh38]
Chr1:160836448..161284904 [GRCh37]
Chr1:159103072..159551528 [NCBI36]
Chr1:1q23.3
uncertain significance
GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1 copy number loss See cases [RCV000051172] Chr1:159479887..166895086 [GRCh38]
Chr1:159449677..166864323 [GRCh37]
Chr1:157716301..165130947 [NCBI36]
Chr1:1q23.2-24.1
pathogenic
GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3 copy number gain See cases [RCV000051854] Chr1:157747246..176021247 [GRCh38]
Chr1:157717036..175990383 [GRCh37]
Chr1:155983660..174257006 [NCBI36]
Chr1:1q23.1-25.1
pathogenic
GRCh38/hg38 1q23.3-24.2(chr1:160789732-168617494)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053913]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053913]|See cases [RCV000053913] Chr1:160789732..168617494 [GRCh38]
Chr1:160759522..168586732 [GRCh37]
Chr1:159026146..166853356 [NCBI36]
Chr1:1q23.3-24.2
pathogenic
NM_000530.8(MPZ):c.684C>T (p.Ser228=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174335]|Charcot-Marie-Tooth disease dominant intermediate D [RCV000384849]|Charcot-Marie-Tooth disease type 1B [RCV001093827]|Charcot-Marie-Tooth disease type 4E [RCV000271688]|Charcot-Marie-Tooth disease, type I [RCV000475505]|Neuropathy, congenital hypomyelinating, 2 [RCV001093828]|Roussy-Lévy syndrome [RCV000385856]|not provided [RCV001811973]|not specified [RCV000117630] Chr1:161305939 [GRCh38]
Chr1:161275729 [GRCh37]
Chr1:1q23.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_000530.8(MPZ):c.600G>A (p.Gly200=) single nucleotide variant Charcot-Marie-Tooth disease dominant intermediate D [RCV000396629]|Charcot-Marie-Tooth disease type 1B [RCV001093887]|Charcot-Marie-Tooth disease type 2I [RCV000576698]|Charcot-Marie-Tooth disease type 4E [RCV000303851]|Charcot-Marie-Tooth disease, type I [RCV000469826]|Neuropathy, congenital hypomyelinating, 2 [RCV001093886]|Roussy-Lévy syndrome [RCV000396637]|not specified [RCV000126797] Chr1:161306153 [GRCh38]
Chr1:161275943 [GRCh37]
Chr1:1q23.3
benign
NM_000530.8(MPZ):c.380G>C (p.Cys127Ser) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001852535]|Inborn genetic diseases [RCV000190787] Chr1:161306776 [GRCh38]
Chr1:161276566 [GRCh37]
Chr1:1q23.3
pathogenic|likely pathogenic|uncertain significance
GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 copy number gain See cases [RCV000143515] Chr1:149854269..180267197 [GRCh38]
Chr1:149825831..180236332 [GRCh37]
Chr1:148092455..178502955 [NCBI36]
Chr1:1q21.2-25.2
pathogenic
NM_000530.8(MPZ):c.182A>G (p.Asp61Gly) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790119]|Charcot-Marie-Tooth disease, type I [RCV000168067]|not provided [RCV000236489] Chr1:161307310 [GRCh38]
Chr1:161277100 [GRCh37]
Chr1:1q23.3
pathogenic|likely pathogenic|uncertain significance
NM_000530.8(MPZ):c.314C>T (p.Pro105Leu) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173695]|Charcot-Marie-Tooth disease, type I [RCV000168337] Chr1:161306842 [GRCh38]
Chr1:161276632 [GRCh37]
Chr1:1q23.3
pathogenic|likely pathogenic|uncertain significance
NM_000530.8(MPZ):c.*624C>T single nucleotide variant Charcot-Marie-Tooth disease dominant intermediate D [RCV000261171]|Charcot-Marie-Tooth disease type 1B [RCV000368241]|Charcot-Marie-Tooth disease type 4E [RCV000262294]|Neuropathy, congenital hypomyelinating, 2 [RCV001093822]|Roussy-Lévy syndrome [RCV000357089]|not provided [RCV001709575] Chr1:161305252 [GRCh38]
Chr1:161275042 [GRCh37]
Chr1:1q23.3
benign|likely benign
NM_000530.8(MPZ):c.*52G>A single nucleotide variant Charcot-Marie-Tooth disease dominant intermediate D [RCV000301779]|Charcot-Marie-Tooth disease type 1B [RCV000265390]|Charcot-Marie-Tooth disease type 4E [RCV000355341]|Neuropathy, congenital hypomyelinating, 2 [RCV001093826]|Roussy-Lévy syndrome [RCV000270677]|not provided [RCV001357532] Chr1:161305824 [GRCh38]
Chr1:161275614 [GRCh37]
Chr1:1q23.3
benign|likely benign|uncertain significance
NM_000530.8(MPZ):c.451C>A (p.Pro151Thr) single nucleotide variant Charcot-Marie-Tooth disease type 2I [RCV000195798]|Charcot-Marie-Tooth disease, type I [RCV000805947]|not provided [RCV001762424] Chr1:161306462 [GRCh38]
Chr1:161276252 [GRCh37]
Chr1:1q23.3
likely pathogenic|uncertain significance
NM_000530.8(MPZ):c.419C>G (p.Ser140Cys) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789460]|Charcot-Marie-Tooth disease, type I [RCV000198501] Chr1:161306737 [GRCh38]
Chr1:161276527 [GRCh37]
Chr1:1q23.3
likely pathogenic|uncertain significance
NM_000530.8(MPZ):c.310G>T (p.Asp104Tyr) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000199865] Chr1:161306846 [GRCh38]
Chr1:161276636 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.499G>A (p.Gly167Arg) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789484]|Charcot-Marie-Tooth disease type 1B [RCV000194294]|Charcot-Marie-Tooth disease, type I [RCV001053594] Chr1:161306414 [GRCh38]
Chr1:161276204 [GRCh37]
Chr1:1q23.3
pathogenic|uncertain significance|not provided
NP_000521.1(MPZ):p.Asn116Ser protein only Charcot-Marie-Tooth disease type 1B [RCV000194444] Chr1:1q23.3 pathogenic
NM_000530.8(MPZ):c.181G>A (p.Asp61Asn) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789423]|Charcot-Marie-Tooth disease type 1B [RCV000193325]|Charcot-Marie-Tooth disease, type I [RCV000688094]|not provided [RCV000992318] Chr1:161307311 [GRCh38]
Chr1:161277101 [GRCh37]
Chr1:1q23.3
pathogenic|uncertain significance|not provided
NM_000530.8(MPZ):c.487G>A (p.Gly163Arg) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789471]|Charcot-Marie-Tooth disease type 1B [RCV000193606]|Charcot-Marie-Tooth disease, type I [RCV000538322] Chr1:161306426 [GRCh38]
Chr1:161276216 [GRCh37]
Chr1:1q23.3
pathogenic|uncertain significance|not provided
NM_000530.8(MPZ):c.646-10_650del deletion Charcot-Marie-Tooth disease [RCV000789429]|Charcot-Marie-Tooth disease type 1B [RCV000201070] Chr1:161305973..161305987 [GRCh38]
Chr1:161275763..161275777 [GRCh37]
Chr1:1q23.3
pathogenic|uncertain significance
NM_000530.8(MPZ):c.116A>C (p.His39Pro) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000206430]|Inborn genetic diseases [RCV002327052]|not provided [RCV000236108]|not specified [RCV001002484] Chr1:161307376 [GRCh38]
Chr1:161277166 [GRCh37]
Chr1:1q23.3
pathogenic
NM_000530.8(MPZ):c.90C>G (p.Ile30Met) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789438]|Charcot-Marie-Tooth disease, type I [RCV000464045]|not provided [RCV000712322] Chr1:161307402 [GRCh38]
Chr1:161277192 [GRCh37]
Chr1:1q23.3
pathogenic|uncertain significance
NM_000530.8(MPZ):c.410G>A (p.Gly137Asp) single nucleotide variant Charcot-Marie-Tooth disease type 1B [RCV000201196] Chr1:161306746 [GRCh38]
Chr1:161276536 [GRCh37]
Chr1:1q23.3
pathogenic
NM_000530.8(MPZ):c.504G>A (p.Val168=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174328]|Charcot-Marie-Tooth disease dominant intermediate D [RCV000372187]|Charcot-Marie-Tooth disease type 1B [RCV001093725]|Charcot-Marie-Tooth disease type 4E [RCV000329827]|Charcot-Marie-Tooth disease, type I [RCV000276553]|Neuropathy, congenital hypomyelinating, 2 [RCV001093724]|Roussy-Lévy syndrome [RCV000317582]|not provided [RCV001812779]|not specified [RCV000613993] Chr1:161306409 [GRCh38]
Chr1:161276199 [GRCh37]
Chr1:1q23.3
benign|likely benign
NM_000530.8(MPZ):c.*954C>A single nucleotide variant Charcot-Marie-Tooth disease dominant intermediate D [RCV000298286]|Charcot-Marie-Tooth disease type 1B [RCV000280448]|Charcot-Marie-Tooth disease type 4E [RCV000341490]|Neuropathy, congenital hypomyelinating, 2 [RCV001093865]|Roussy-Lévy syndrome [RCV000338011] Chr1:161304922 [GRCh38]
Chr1:161274712 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.77C>T (p.Pro26Leu) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173705]|Charcot-Marie-Tooth disease dominant intermediate D [RCV000377930]|Charcot-Marie-Tooth disease type 1B [RCV001093832]|Charcot-Marie-Tooth disease type 4E [RCV000282369]|Charcot-Marie-Tooth disease, type I [RCV000283414]|Neuropathy, congenital hypomyelinating, 2 [RCV001093831]|Roussy-Lévy syndrome [RCV000343046] Chr1:161307415 [GRCh38]
Chr1:161277205 [GRCh37]
Chr1:1q23.3
benign|likely benign|uncertain significance
NM_000530.8(MPZ):c.106A>T (p.Arg36Trp) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789432]|Charcot-Marie-Tooth disease, type I [RCV000204639]|not provided [RCV000517562] Chr1:161307386 [GRCh38]
Chr1:161277176 [GRCh37]
Chr1:1q23.3
pathogenic|likely pathogenic|uncertain significance
NM_000530.8(MPZ):c.424G>T (p.Val142Phe) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001854760]|not provided [RCV000216501] Chr1:161306732 [GRCh38]
Chr1:161276522 [GRCh37]
Chr1:1q23.3
likely pathogenic|uncertain significance
Single allele deletion Charcot-Marie-Tooth disease type 1B [RCV000235057] Chr1:161309667..161329606 [GRCh38]
Chr1:161279434..161299373 [GRCh37]
Chr1:1q23.3
pathogenic|likely pathogenic
NC_000001.11:g.161305808_161309983dup duplication Charcot-Marie-Tooth disease type 1B [RCV000235059] Chr1:161305807..161305808 [GRCh38]
Chr1:161275597..161275598 [GRCh37]
Chr1:1q23.3
likely pathogenic
NM_000530.8(MPZ):c.403A>C (p.Ile135Leu) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789436]|Charcot-Marie-Tooth disease type 1B [RCV000235064] Chr1:161306753 [GRCh38]
Chr1:161276543 [GRCh37]
Chr1:1q23.3
pathogenic|uncertain significance
NM_000530.8(MPZ):c.149G>T (p.Cys50Phe) single nucleotide variant not provided [RCV000223173] Chr1:161307343 [GRCh38]
Chr1:161277133 [GRCh37]
Chr1:1q23.3
pathogenic
NM_000530.8(MPZ):c.731G>T (p.Arg244Leu) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001038864]|not provided [RCV000219209] Chr1:161305892 [GRCh38]
Chr1:161275682 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.368_369delinsCT (p.Gly123Ala) indel Charcot-Marie-Tooth disease, type I [RCV000231316] Chr1:161306787..161306788 [GRCh38]
Chr1:161276577..161276578 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.200G>A (p.Arg67His) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174319]|Charcot-Marie-Tooth disease dominant intermediate D [RCV001097631]|Charcot-Marie-Tooth disease type 1B [RCV001097630]|Charcot-Marie-Tooth disease, type I [RCV000228125]|Inborn genetic diseases [RCV002417996]|Neuropathy, congenital hypomyelinating, 2 [RCV001097629]|Roussy-Lévy syndrome [RCV001097632]|not provided [RCV001812639]|not specified [RCV000479710] Chr1:161307292 [GRCh38]
Chr1:161277082 [GRCh37]
Chr1:1q23.3
pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000530.8(MPZ):c.188_190del (p.Ser63del) deletion Charcot-Marie-Tooth disease [RCV000790083]|Charcot-Marie-Tooth disease type 1B [RCV000015231]|Charcot-Marie-Tooth disease, type I [RCV000535237]|not provided [RCV000235309] Chr1:161307302..161307304 [GRCh38]
Chr1:161277092..161277094 [GRCh37]
Chr1:1q23.3
pathogenic|uncertain significance
NM_000530.8(MPZ):c.464G>T (p.Gly155Val) single nucleotide variant not provided [RCV000235423] Chr1:161306449 [GRCh38]
Chr1:161276239 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.595A>G (p.Lys199Glu) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001341686]|not provided [RCV000235645] Chr1:161306158 [GRCh38]
Chr1:161275948 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.584+2T>G single nucleotide variant Charcot-Marie-Tooth disease [RCV000790116]|Charcot-Marie-Tooth disease type 1B [RCV000015261]|not provided [RCV000235519] Chr1:161306327 [GRCh38]
Chr1:161276117 [GRCh37]
Chr1:1q23.3
pathogenic|uncertain significance
NM_000530.8(MPZ):c.129_136del (p.Ser44fs) deletion Charcot-Marie-Tooth disease [RCV000790073]|Charcot-Marie-Tooth disease, type I [RCV001390413]|not provided [RCV000235941] Chr1:161307356..161307363 [GRCh38]
Chr1:161277146..161277153 [GRCh37]
Chr1:1q23.3
pathogenic
NM_000530.8(MPZ):c.637G>C (p.Gly213Arg) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790309]|Charcot-Marie-Tooth disease dominant intermediate D [RCV000279139]|Charcot-Marie-Tooth disease type 1B [RCV001093885]|Charcot-Marie-Tooth disease type 4E [RCV000296319]|Charcot-Marie-Tooth disease, type I [RCV000555621]|Inborn genetic diseases [RCV002365233]|Neuropathy, congenital hypomyelinating, 2 [RCV001093884]|Roussy-Lévy syndrome [RCV000373587]|not provided [RCV000236004]|not specified [RCV001658084] Chr1:161306116 [GRCh38]
Chr1:161275906 [GRCh37]
Chr1:1q23.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000530.8(MPZ):c.133C>T (p.Arg45Trp) single nucleotide variant Charcot-Marie-Tooth disease type 2I [RCV000763755]|Charcot-Marie-Tooth disease, type I [RCV001477198]|Inborn genetic diseases [RCV002379053]|not provided [RCV000236516] Chr1:161307359 [GRCh38]
Chr1:161277149 [GRCh37]
Chr1:1q23.3
benign|likely benign|uncertain significance
NM_000530.8(MPZ):c.176C>T (p.Ser59Leu) single nucleotide variant not provided [RCV000236584] Chr1:161307316 [GRCh38]
Chr1:161277106 [GRCh37]
Chr1:1q23.3
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000530.8(MPZ):c.356A>G (p.Tyr119Cys) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790120]|Charcot-Marie-Tooth disease, type I [RCV000638165]|not provided [RCV000237035] Chr1:161306800 [GRCh38]
Chr1:161276590 [GRCh37]
Chr1:1q23.3
pathogenic|likely pathogenic|uncertain significance
NM_000530.8(MPZ):c.67+1G>A single nucleotide variant not provided [RCV000516623] Chr1:161309838 [GRCh38]
Chr1:161279628 [GRCh37]
Chr1:1q23.3
pathogenic
NM_000530.8(MPZ):c.703AAG[1] (p.Lys236del) microsatellite Charcot-Marie-Tooth disease [RCV000789487]|Charcot-Marie-Tooth disease type 2I [RCV003147499]|Charcot-Marie-Tooth disease type 2J [RCV000845000]|Charcot-Marie-Tooth disease, type I [RCV000819196]|Inborn genetic diseases [RCV002367719]|not provided [RCV000517719] Chr1:161305915..161305917 [GRCh38]
Chr1:161275705..161275707 [GRCh37]
Chr1:1q23.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000530.8(MPZ):c.*743C>T single nucleotide variant Charcot-Marie-Tooth disease dominant intermediate D [RCV000396851]|Charcot-Marie-Tooth disease type 1B [RCV000347133]|Charcot-Marie-Tooth disease type 4E [RCV000286154]|Neuropathy, congenital hypomyelinating, 2 [RCV001093769]|Roussy-Lévy syndrome [RCV000339052] Chr1:161305133 [GRCh38]
Chr1:161274923 [GRCh37]
Chr1:1q23.3
benign|likely benign|uncertain significance
NM_000530.8(MPZ):c.*568C>G single nucleotide variant Charcot-Marie-Tooth disease dominant intermediate D [RCV000376668]|Charcot-Marie-Tooth disease type 1B [RCV000322023]|Charcot-Marie-Tooth disease type 4E [RCV000286729]|Neuropathy, congenital hypomyelinating, 2 [RCV001093823]|Roussy-Lévy syndrome [RCV000382378]|not provided [RCV001785548] Chr1:161305308 [GRCh38]
Chr1:161275098 [GRCh37]
Chr1:1q23.3
benign|likely benign
NM_000530.8(MPZ):c.*761A>G single nucleotide variant Charcot-Marie-Tooth disease dominant intermediate D [RCV000316529]|Charcot-Marie-Tooth disease type 1B [RCV000282450]|Charcot-Marie-Tooth disease type 4E [RCV000373521]|Neuropathy, congenital hypomyelinating, 2 [RCV001093878]|Roussy-Lévy syndrome [RCV000331888]|not provided [RCV001683172] Chr1:161305115 [GRCh38]
Chr1:161274905 [GRCh37]
Chr1:1q23.3
benign
NM_000530.8(MPZ):c.*1048A>T single nucleotide variant Charcot-Marie-Tooth disease dominant intermediate D [RCV000358066]|Charcot-Marie-Tooth disease type 1B [RCV000265703]|Charcot-Marie-Tooth disease type 4E [RCV000269004]|Neuropathy, congenital hypomyelinating, 2 [RCV001093818]|Roussy-Lévy syndrome [RCV000327786]|not provided [RCV002274972] Chr1:161304828 [GRCh38]
Chr1:161274618 [GRCh37]
Chr1:1q23.3
benign|likely benign|uncertain significance
NM_000530.8(MPZ):c.155_157del (p.Phe52del) deletion not specified [RCV000517038] Chr1:161307335..161307337 [GRCh38]
Chr1:161277125..161277127 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.*195G>T single nucleotide variant Charcot-Marie-Tooth disease dominant intermediate D [RCV000354081]|Charcot-Marie-Tooth disease type 1B [RCV000300540]|Charcot-Marie-Tooth disease type 4E [RCV000313368]|Neuropathy, congenital hypomyelinating, 2 [RCV001093774]|Roussy-Lévy syndrome [RCV000395380]|not provided [RCV003221890] Chr1:161305681 [GRCh38]
Chr1:161275471 [GRCh37]
Chr1:1q23.3
benign|likely benign|uncertain significance
NM_000530.8(MPZ):c.*251C>G single nucleotide variant Charcot-Marie-Tooth disease dominant intermediate D [RCV000287992]|Charcot-Marie-Tooth disease type 1B [RCV000348698]|Charcot-Marie-Tooth disease type 4E [RCV000293818]|Neuropathy, congenital hypomyelinating, 2 [RCV001093772]|Roussy-Lévy syndrome [RCV000347391] Chr1:161305625 [GRCh38]
Chr1:161275415 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.-49C>A single nucleotide variant Charcot-Marie-Tooth disease dominant intermediate D [RCV000347617]|Charcot-Marie-Tooth disease type 1B [RCV000396895]|Charcot-Marie-Tooth disease type 4E [RCV000306731]|Neuropathy, congenital hypomyelinating, 2 [RCV001093888]|Roussy-Lévy syndrome [RCV000396893] Chr1:161309954 [GRCh38]
Chr1:161279744 [GRCh37]
Chr1:1q23.3
benign|likely benign|uncertain significance
NM_000530.8(MPZ):c.*858T>C single nucleotide variant Charcot-Marie-Tooth disease type 4E [RCV000332583]|Charcot-Marie-Tooth disease, type I [RCV000274388]|Charcot-Marie-Tooth, Intermediate [RCV000270444]|Roussy-Lévy syndrome [RCV000362754] Chr1:161305018 [GRCh38]
Chr1:161274808 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.*901GA[7] microsatellite Charcot-Marie-Tooth disease type 4E [RCV000310426]|Charcot-Marie-Tooth disease, type I [RCV000271763]|Charcot-Marie-Tooth, Intermediate [RCV000302459]|Roussy-Lévy syndrome [RCV000359575]|not provided [RCV001689972] Chr1:161304965..161304966 [GRCh38]
Chr1:161274755..161274756 [GRCh37]
Chr1:1q23.3
benign
NM_000530.8(MPZ):c.*1074A>C single nucleotide variant Charcot-Marie-Tooth disease dominant intermediate D [RCV000301051]|Charcot-Marie-Tooth disease type 1B [RCV000305607]|Charcot-Marie-Tooth disease type 4E [RCV000353504]|Neuropathy, congenital hypomyelinating, 2 [RCV001093765]|Roussy-Lévy syndrome [RCV000261032] Chr1:161304802 [GRCh38]
Chr1:161274592 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.515T>C (p.Leu172Pro) single nucleotide variant Charcot-Marie-Tooth disease type 4E [RCV000268795]|Charcot-Marie-Tooth disease, type I [RCV000364593]|Charcot-Marie-Tooth, Intermediate [RCV000309818]|Roussy-Lévy syndrome [RCV000274699] Chr1:161306398 [GRCh38]
Chr1:161276188 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.366T>G (p.Asn122Lys) single nucleotide variant not provided [RCV000488220] Chr1:161306790 [GRCh38]
Chr1:161276580 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.-23_8dup (p.Ala5fs) duplication not provided [RCV000490008] Chr1:161309897..161309898 [GRCh38]
Chr1:161279687..161279688 [GRCh37]
Chr1:1q23.3
pathogenic
NM_000530.8(MPZ):c.152C>T (p.Ser51Phe) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789497]|Charcot-Marie-Tooth disease, type I [RCV000638176]|not provided [RCV001815361] Chr1:161307340 [GRCh38]
Chr1:161277130 [GRCh37]
Chr1:1q23.3
pathogenic|uncertain significance
NM_000530.8(MPZ):c.560_563dup (p.Ala189fs) microsatellite Charcot-Marie-Tooth disease, type I [RCV000638177] Chr1:161306349..161306350 [GRCh38]
Chr1:161276139..161276140 [GRCh37]
Chr1:1q23.3
pathogenic
NM_000530.8(MPZ):c.428C>T (p.Thr143Met) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790102]|Charcot-Marie-Tooth disease dominant intermediate D [RCV001097627]|Charcot-Marie-Tooth disease type 1B [RCV001097625]|Charcot-Marie-Tooth disease, type I [RCV000638163]|Inborn genetic diseases [RCV002528901]|Neuropathy, congenital hypomyelinating, 2 [RCV001097626]|Roussy-Lévy syndrome [RCV001097628]|not provided [RCV003324776] Chr1:161306728 [GRCh38]
Chr1:161276518 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.298C>T (p.Gln100Ter) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789465]|Charcot-Marie-Tooth disease, type I [RCV000638154] Chr1:161306858 [GRCh38]
Chr1:161276648 [GRCh37]
Chr1:1q23.3
pathogenic|uncertain significance
NM_000530.8(MPZ):c.368G>A (p.Gly123Asp) single nucleotide variant Dejerine-Sottas disease [RCV000790057]|not provided [RCV000521410] Chr1:161306788 [GRCh38]
Chr1:161276578 [GRCh37]
Chr1:1q23.3
likely pathogenic|uncertain significance
NM_000530.8(MPZ):c.*1020G>A single nucleotide variant Charcot-Marie-Tooth disease dominant intermediate D [RCV000348310]|Charcot-Marie-Tooth disease type 1B [RCV000386477]|Charcot-Marie-Tooth disease type 4E [RCV000295760]|Neuropathy, congenital hypomyelinating, 2 [RCV001093819]|Roussy-Lévy syndrome [RCV000326435] Chr1:161304856 [GRCh38]
Chr1:161274646 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.*681A>T single nucleotide variant Charcot-Marie-Tooth disease dominant intermediate D [RCV000396867]|Charcot-Marie-Tooth disease type 1B [RCV000307585]|Charcot-Marie-Tooth disease type 4E [RCV000369359]|Neuropathy, congenital hypomyelinating, 2 [RCV001093770]|Roussy-Lévy syndrome [RCV000311202] Chr1:161305195 [GRCh38]
Chr1:161274985 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_003001.3(SDHC):c.20+11_20+12dup duplication Charcot-Marie-Tooth disease type 4E [RCV000354800]|Charcot-Marie-Tooth disease, type I [RCV000397974]|Charcot-Marie-Tooth, Intermediate [RCV000351164]|Gastrointestinal stromal tumor [RCV001521360]|Hereditary cancer-predisposing syndrome [RCV000492358]|Pheochromocytoma [RCV000399693]|Roussy-Lévy syndrome [RCV000297715]|not provided [RCV000587490]|not specified [RCV000037724] Chr1:161314434..161314435 [GRCh38]
Chr1:161284226..161284227 [GRCh37]
Chr1:1q23.3
benign|likely benign
NM_000530.8(MPZ):c.68-5T>G single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000532074]|Inborn genetic diseases [RCV002367833] Chr1:161307429 [GRCh38]
Chr1:161277219 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_003001.5(SDHC):c.-38G>A single nucleotide variant Charcot-Marie-Tooth disease type 4E [RCV000325790]|Charcot-Marie-Tooth disease, type I [RCV000287178]|Charcot-Marie-Tooth, Intermediate [RCV000290768]|Gastrointestinal stromal tumor [RCV001523188]|Gastrointestinal stromal tumor [RCV002488835]|Hereditary cancer-predisposing syndrome [RCV002256223]|Hereditary pheochromocytoma-paraganglioma [RCV001101380]|Paragangliomas 3 [RCV000662850]|Pheochromocytoma [RCV000406625]|Roussy-Lévy syndrome [RCV000382819]|not provided [RCV001653768]|not specified [RCV001000114] Chr1:161314368 [GRCh38]
Chr1:161284158 [GRCh37]
Chr1:1q23.3
benign
NM_000530.8(MPZ):c.641G>A (p.Arg214Gln) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001067919]|not provided [RCV000591713] Chr1:161306112 [GRCh38]
Chr1:161275902 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.86C>T (p.Ala29Val) single nucleotide variant not provided [RCV000592481] Chr1:161307406 [GRCh38]
Chr1:161277196 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.74C>T (p.Ser25Phe) single nucleotide variant not specified [RCV000518569] Chr1:161307418 [GRCh38]
Chr1:161277208 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.331T>C (p.Ser111Pro) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000549580] Chr1:161306825 [GRCh38]
Chr1:161276615 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.332C>G (p.Ser111Cys) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790095]|Charcot-Marie-Tooth disease, type I [RCV000704378]|not provided [RCV000523011] Chr1:161306824 [GRCh38]
Chr1:161276614 [GRCh37]
Chr1:1q23.3
likely pathogenic|uncertain significance
NM_000530.8(MPZ):c.297C>T (p.Ile99=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000528906]|Inborn genetic diseases [RCV002438343] Chr1:161306859 [GRCh38]
Chr1:161276649 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.88A>C (p.Ile30Leu) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000638169] Chr1:161307404 [GRCh38]
Chr1:161277194 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.419C>T (p.Ser140Phe) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000638181]|not provided [RCV001027482] Chr1:161306737 [GRCh38]
Chr1:161276527 [GRCh37]
Chr1:1q23.3
pathogenic|likely pathogenic|uncertain significance
NM_000530.8(MPZ):c.354C>T (p.Asp118=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000638187]|Inborn genetic diseases [RCV002458027] Chr1:161306802 [GRCh38]
Chr1:161276592 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.708G>A (p.Lys236=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001442096]|Inborn genetic diseases [RCV002360551]|not provided [RCV000826930] Chr1:161305915 [GRCh38]
Chr1:161275705 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.24C>T (p.Ser8=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174331]|Charcot-Marie-Tooth disease, type I [RCV001084731]|not provided [RCV000559261]|not specified [RCV000615185] Chr1:161309882 [GRCh38]
Chr1:161279672 [GRCh37]
Chr1:1q23.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000530.8(MPZ):c.699T>G (p.Ser233Arg) single nucleotide variant Roussy-Lévy syndrome [RCV001196260]|Sensorimotor neuropathy [RCV000415393]|Tremor [RCV000414872] Chr1:161305924 [GRCh38]
Chr1:161275714 [GRCh37]
Chr1:1q23.3
likely pathogenic
NM_000530.8(MPZ):c.284T>C (p.Phe95Ser) single nucleotide variant not provided [RCV000416143] Chr1:161306872 [GRCh38]
Chr1:161276662 [GRCh37]
Chr1:1q23.3
uncertain significance
GRCh37/hg19 1q23.3(chr1:161255241-161276497) copy number loss Charcot-Marie-Tooth disease type 4E [RCV000415266] Chr1:161255241..161276497 [GRCh37]
Chr1:1q23.3
pathogenic
NM_000530.8(MPZ):c.68-1G>C single nucleotide variant not provided [RCV000412954] Chr1:161307425 [GRCh38]
Chr1:161277215 [GRCh37]
Chr1:1q23.3
pathogenic|likely pathogenic
NM_000530.8(MPZ):c.646-3C>A single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001067772]|not provided [RCV001662368]|not specified [RCV000413024] Chr1:161305980 [GRCh38]
Chr1:161275770 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.159G>C (p.Trp53Cys) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000806037] Chr1:161307333 [GRCh38]
Chr1:161277123 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.397C>A (p.Pro133Thr) single nucleotide variant Charcot-Marie-Tooth disease type 2I [RCV000763261]|Charcot-Marie-Tooth disease, type I [RCV000525895] Chr1:161306759 [GRCh38]
Chr1:161276549 [GRCh37]
Chr1:1q23.3
pathogenic|likely pathogenic|uncertain significance
NM_000530.8(MPZ):c.235-7C>T single nucleotide variant not specified [RCV000438231] Chr1:161306928 [GRCh38]
Chr1:161276718 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.645+12T>C single nucleotide variant not specified [RCV000420483] Chr1:161306096 [GRCh38]
Chr1:161275886 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.483G>C (p.Val161=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000463049]|Inborn genetic diseases [RCV002341118] Chr1:161306430 [GRCh38]
Chr1:161276220 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.380_383dup (p.Asp128delinsGluTer) duplication Charcot-Marie-Tooth disease, type I [RCV000470371] Chr1:161306772..161306773 [GRCh38]
Chr1:161276562..161276563 [GRCh37]
Chr1:1q23.3
pathogenic
NM_000530.8(MPZ):c.233C>G (p.Ser78Trp) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789070]|Charcot-Marie-Tooth disease, type I [RCV000470689]|MPZ-related condition [RCV003409638]|not provided [RCV001289097] Chr1:161307259 [GRCh38]
Chr1:161277049 [GRCh37]
Chr1:1q23.3
pathogenic|likely pathogenic|uncertain significance
NM_000530.8(MPZ):c.149_151dup (p.Cys50dup) duplication not provided [RCV000482306] Chr1:161307340..161307341 [GRCh38]
Chr1:161277130..161277131 [GRCh37]
Chr1:1q23.3
likely pathogenic
NM_000530.8(MPZ):c.213A>T (p.Glu71Asp) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000456235] Chr1:161307279 [GRCh38]
Chr1:161277069 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.592G>C (p.Glu198Gln) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174327]|Charcot-Marie-Tooth disease, type I [RCV000471110] Chr1:161306161 [GRCh38]
Chr1:161275951 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.278G>A (p.Gly93Glu) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789446]|Charcot-Marie-Tooth disease, type I [RCV000474970]|Inborn genetic diseases [RCV002436458]|not provided [RCV002473018] Chr1:161306878 [GRCh38]
Chr1:161276668 [GRCh37]
Chr1:1q23.3
pathogenic|likely pathogenic|uncertain significance
NM_000530.8(MPZ):c.610A>G (p.Lys204Glu) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001232283]|not provided [RCV000480282] Chr1:161306143 [GRCh38]
Chr1:161275933 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.305_310del (p.Val102_Gly103del) deletion Charcot-Marie-Tooth disease, type I [RCV000468928] Chr1:161306846..161306851 [GRCh38]
Chr1:161276636..161276641 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.106A>G (p.Arg36Gly) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790071]|not provided [RCV000478575] Chr1:161307386 [GRCh38]
Chr1:161277176 [GRCh37]
Chr1:1q23.3
likely pathogenic|uncertain significance
NM_000530.8(MPZ):c.26del (p.Ser9fs) deletion not provided [RCV000478795] Chr1:161309880 [GRCh38]
Chr1:161279670 [GRCh37]
Chr1:1q23.3
likely pathogenic
NM_000530.8(MPZ):c.196T>C (p.Trp66Arg) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000461805] Chr1:161307296 [GRCh38]
Chr1:161277086 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.301T>C (p.Trp101Arg) single nucleotide variant Charcot-Marie-Tooth disease type 1B [RCV000986450]|Charcot-Marie-Tooth disease, type I [RCV000465572] Chr1:161306855 [GRCh38]
Chr1:161276645 [GRCh37]
Chr1:1q23.3
likely pathogenic|uncertain significance
NM_000530.8(MPZ):c.325G>A (p.Asp109Asn) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790084]|Charcot-Marie-Tooth disease, type I [RCV000477088] Chr1:161306831 [GRCh38]
Chr1:161276621 [GRCh37]
Chr1:1q23.3
likely pathogenic|uncertain significance
NM_000530.8(MPZ):c.317G>A (p.Arg106His) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174318]|Charcot-Marie-Tooth disease, type I [RCV000458507]|Inborn genetic diseases [RCV002323749] Chr1:161306839 [GRCh38]
Chr1:161276629 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.585-2A>T single nucleotide variant not provided [RCV000498817] Chr1:161306170 [GRCh38]
Chr1:161275960 [GRCh37]
Chr1:1q23.3
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_000530.8(MPZ):c.309G>T (p.Gly103=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001042393]|not provided [RCV000493821] Chr1:161306847 [GRCh38]
Chr1:161276637 [GRCh37]
Chr1:1q23.3
pathogenic|likely pathogenic
NM_000530.8(MPZ):c.434A>G (p.Tyr145Cys) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173700]|Charcot-Marie-Tooth disease, type I [RCV002527111]|not provided [RCV000494031] Chr1:161306722 [GRCh38]
Chr1:161276512 [GRCh37]
Chr1:1q23.3
likely pathogenic|uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_000530.8(MPZ):c.341T>C (p.Ile114Thr) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789491]|Charcot-Marie-Tooth disease, type I [RCV000541724]|not provided [RCV001508018] Chr1:161306815 [GRCh38]
Chr1:161276605 [GRCh37]
Chr1:1q23.3
pathogenic|uncertain significance
NM_000530.8(MPZ):c.172G>T (p.Val58Phe) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789480]|Charcot-Marie-Tooth disease, type I [RCV000638174] Chr1:161307320 [GRCh38]
Chr1:161277110 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.448+1G>T single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000638180]|not provided [RCV001662685] Chr1:161306707 [GRCh38]
Chr1:161276497 [GRCh37]
Chr1:1q23.3
likely pathogenic
NM_000530.8(MPZ):c.584+10G>C single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000638186] Chr1:161306319 [GRCh38]
Chr1:161276109 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.160T>G (p.Ser54Ala) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000638167] Chr1:161307332 [GRCh38]
Chr1:161277122 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.277G>C (p.Gly93Arg) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000638166] Chr1:161306879 [GRCh38]
Chr1:161276669 [GRCh37]
Chr1:1q23.3
likely pathogenic|uncertain significance
NM_000530.8(MPZ):c.335T>C (p.Ile112Thr) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789483]|Charcot-Marie-Tooth disease, type I [RCV000525582] Chr1:161306821 [GRCh38]
Chr1:161276611 [GRCh37]
Chr1:1q23.3
likely pathogenic|uncertain significance
NM_000530.8(MPZ):c.558del (p.Arg186fs) deletion Dejerine-Sottas disease [RCV000578395]|Neuropathy, congenital hypomyelinating, 2 [RCV001775133] Chr1:161306355 [GRCh38]
Chr1:161276145 [GRCh37]
Chr1:1q23.3
pathogenic
NM_000530.8(MPZ):c.600dup (p.Lys201fs) duplication Inborn genetic diseases [RCV000623978] Chr1:161306152..161306153 [GRCh38]
Chr1:161275942..161275943 [GRCh37]
Chr1:1q23.3
likely pathogenic
NM_000530.8(MPZ):c.256C>T (p.Gln86Ter) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789717]|Charcot-Marie-Tooth disease, type I [RCV000535579] Chr1:161306900 [GRCh38]
Chr1:161276690 [GRCh37]
Chr1:1q23.3
pathogenic
NM_000530.8(MPZ):c.646dup (p.Thr216fs) duplication Charcot-Marie-Tooth disease, type I [RCV000539811]|not provided [RCV000712319] Chr1:161305976..161305977 [GRCh38]
Chr1:161275766..161275767 [GRCh37]
Chr1:1q23.3
pathogenic
NM_000530.8(MPZ):c.103G>A (p.Asp35Asn) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790058]|Charcot-Marie-Tooth disease type 2I [RCV000995582]|Charcot-Marie-Tooth disease, type I [RCV000558954]|not provided [RCV001093015] Chr1:161307389 [GRCh38]
Chr1:161277179 [GRCh37]
Chr1:1q23.3
pathogenic|uncertain significance
NM_000530.8(MPZ):c.405_407del (p.Ile135_Val136delinsMet) deletion Charcot-Marie-Tooth disease, type I [RCV000638179] Chr1:161306749..161306751 [GRCh38]
Chr1:161276539..161276541 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.384C>T (p.Asp128=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000638185]|Inborn genetic diseases [RCV002358797] Chr1:161306772 [GRCh38]
Chr1:161276562 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.116A>G (p.His39Arg) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000638178] Chr1:161307376 [GRCh38]
Chr1:161277166 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.214G>T (p.Gly72Trp) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000638159]|Inborn genetic diseases [RCV002424408] Chr1:161307278 [GRCh38]
Chr1:161277068 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.434_437del (p.Tyr145fs) deletion Charcot-Marie-Tooth disease [RCV000790074]|Charcot-Marie-Tooth disease type 2I [RCV003483698]|Charcot-Marie-Tooth disease, type I [RCV000638153]|Inborn genetic diseases [RCV002528900]|MPZ-related condition [RCV003420112]|not provided [RCV001289099] Chr1:161306719..161306722 [GRCh38]
Chr1:161276509..161276512 [GRCh37]
Chr1:1q23.3
pathogenic|likely pathogenic|not provided
NM_000530.8(MPZ):c.-34_-17del deletion not specified [RCV000613071] Chr1:161309922..161309939 [GRCh38]
Chr1:161279712..161279729 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.270C>G (p.Asp90Glu) single nucleotide variant not provided [RCV000595596] Chr1:161306886 [GRCh38]
Chr1:161276676 [GRCh37]
Chr1:1q23.3
likely pathogenic
NM_000530.8(MPZ):c.51G>A (p.Leu17=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001474971]|Inborn genetic diseases [RCV002341577]|not provided [RCV000712318]|not specified [RCV000612080] Chr1:161309855 [GRCh38]
Chr1:161279645 [GRCh37]
Chr1:1q23.3
benign|likely benign
NM_000530.8(MPZ):c.215G>T (p.Gly72Val) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000638161] Chr1:161307277 [GRCh38]
Chr1:161277067 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.263A>G (p.Tyr88Cys) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000638158] Chr1:161306893 [GRCh38]
Chr1:161276683 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.266_270dup (p.Glu91fs) duplication Charcot-Marie-Tooth disease, type I [RCV001060274]|not provided [RCV000513141] Chr1:161306885..161306886 [GRCh38]
Chr1:161276675..161276676 [GRCh37]
Chr1:1q23.3
pathogenic|likely pathogenic
NM_000530.8(MPZ):c.73T>A (p.Ser25Thr) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000691772]|not provided [RCV000712320] Chr1:161307419 [GRCh38]
Chr1:161277209 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.245A>G (p.Tyr82Cys) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789442]|Charcot-Marie-Tooth disease dominant intermediate D [RCV000664225]|Charcot-Marie-Tooth disease, type I [RCV000701835]|Peripheral neuropathy [RCV001814209] Chr1:161306911 [GRCh38]
Chr1:161276701 [GRCh37]
Chr1:1q23.3
pathogenic|likely pathogenic|uncertain significance
NM_000530.8(MPZ):c.691G>C (p.Ala231Pro) single nucleotide variant not provided [RCV000658531] Chr1:161305932 [GRCh38]
Chr1:161275722 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.77del (p.Pro26fs) deletion Charcot-Marie-Tooth disease, type I [RCV000696546]|not provided [RCV000712321] Chr1:161307415 [GRCh38]
Chr1:161277205 [GRCh37]
Chr1:1q23.3
pathogenic
NM_000530.8(MPZ):c.530A>G (p.Tyr177Cys) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000686146] Chr1:161306383 [GRCh38]
Chr1:161276173 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.663A>G (p.Ala221=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV002084507]|not provided [RCV002264463] Chr1:161305960 [GRCh38]
Chr1:161275750 [GRCh37]
Chr1:1q23.3
likely benign
GRCh37/hg19 1q23.3(chr1:161224742-161414959)x3 copy number gain not provided [RCV000684666] Chr1:161224742..161414959 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.68-2A>C single nucleotide variant Peripheral neuropathy [RCV001814362] Chr1:161307426 [GRCh38]
Chr1:161277216 [GRCh37]
Chr1:1q23.3
likely pathogenic
NM_000530.8(MPZ):c.293G>T (p.Arg98Leu) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001377518]|not provided [RCV000712315] Chr1:161306863 [GRCh38]
Chr1:161276653 [GRCh37]
Chr1:1q23.3
pathogenic|likely pathogenic|uncertain significance
NM_000530.8(MPZ):c.303G>A (p.Trp101Ter) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173693]|Charcot-Marie-Tooth disease, type I [RCV002532930]|Inborn genetic diseases [RCV003165947]|MPZ-Related Disorders [RCV002469277]|not provided [RCV000712316] Chr1:161306853 [GRCh38]
Chr1:161276643 [GRCh37]
Chr1:1q23.3
pathogenic|likely pathogenic
NM_000530.8(MPZ):c.397C>G (p.Pro133Ala) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000701482] Chr1:161306759 [GRCh38]
Chr1:161276549 [GRCh37]
Chr1:1q23.3
likely pathogenic
NM_000530.8(MPZ):c.448G>A (p.Val150Met) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000704270] Chr1:161306708 [GRCh38]
Chr1:161276498 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.268G>A (p.Asp90Asn) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000705483]|Hereditary motor neuron disease [RCV001027481] Chr1:161306888 [GRCh38]
Chr1:161276678 [GRCh37]
Chr1:1q23.3
likely pathogenic|uncertain significance
NM_000530.8(MPZ):c.454A>G (p.Thr152Ala) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000691528]|Inborn genetic diseases [RCV002334293] Chr1:161306459 [GRCh38]
Chr1:161276249 [GRCh37]
Chr1:1q23.3
likely benign|uncertain significance
NM_000530.8(MPZ):c.154T>G (p.Phe52Val) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000689231] Chr1:161307338 [GRCh38]
Chr1:161277128 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.411C>T (p.Gly137=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000700482]|Dejerine-Sottas disease [RCV000789490] Chr1:161306745 [GRCh38]
Chr1:161276535 [GRCh37]
Chr1:1q23.3
pathogenic|uncertain significance
NM_000530.8(MPZ):c.542A>G (p.Tyr181Cys) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000687918]|not provided [RCV003317338] Chr1:161306371 [GRCh38]
Chr1:161276161 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.271G>A (p.Glu91Lys) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173703]|Charcot-Marie-Tooth disease, type I [RCV000704394]|not provided [RCV001772002] Chr1:161306885 [GRCh38]
Chr1:161276675 [GRCh37]
Chr1:1q23.3
likely benign|uncertain significance
NM_000530.8(MPZ):c.398C>G (p.Pro133Arg) single nucleotide variant Charcot-Marie-Tooth disease type 2J [RCV003152728]|Charcot-Marie-Tooth disease, type I [RCV000693325] Chr1:161306758 [GRCh38]
Chr1:161276548 [GRCh37]
Chr1:1q23.3
likely pathogenic|uncertain significance
NM_000530.8(MPZ):c.722G>C (p.Gly241Ala) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000704816] Chr1:161305901 [GRCh38]
Chr1:161275691 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.302G>A (p.Trp101Ter) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789448]|Charcot-Marie-Tooth disease, type I [RCV000690960]|Inborn genetic diseases [RCV002440447] Chr1:161306854 [GRCh38]
Chr1:161276644 [GRCh37]
Chr1:1q23.3
pathogenic|uncertain significance
NM_000530.8(MPZ):c.10G>T (p.Gly4Trp) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000705230] Chr1:161309896 [GRCh38]
Chr1:161279686 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.547T>C (p.Trp183Arg) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174321]|Charcot-Marie-Tooth disease, type I [RCV000705857]|Inborn genetic diseases [RCV002343564]|not provided [RCV001508016] Chr1:161306366 [GRCh38]
Chr1:161276156 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.449-63G>A single nucleotide variant not provided [RCV001547835] Chr1:161306527 [GRCh38]
Chr1:161276317 [GRCh37]
Chr1:1q23.3
likely benign
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q23.2-25.2(chr1:159815642-177026983)x1 copy number loss not provided [RCV000736717] Chr1:159815642..177026983 [GRCh37]
Chr1:1q23.2-25.2
pathogenic
NM_000530.8(MPZ):c.646-7C>T single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000874157] Chr1:161305984 [GRCh38]
Chr1:161275774 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.236T>C (p.Ile79Thr) single nucleotide variant not provided [RCV000761686] Chr1:161306920 [GRCh38]
Chr1:161276710 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.254G>C (p.Gly85Ala) single nucleotide variant not provided [RCV000994157] Chr1:161306902 [GRCh38]
Chr1:161276692 [GRCh37]
Chr1:1q23.3
likely pathogenic
NM_000530.8(MPZ):c.312C>A (p.Asp104Glu) single nucleotide variant Charcot-Marie-Tooth disease type 2I [RCV002290727]|Inborn genetic diseases [RCV002324153]|not provided [RCV001584599] Chr1:161306844 [GRCh38]
Chr1:161276634 [GRCh37]
Chr1:1q23.3
uncertain significance
NC_000001.11:g.(?_161305674)_(161307434_?)del deletion Charcot-Marie-Tooth disease, type I [RCV001031263] Chr1:161275464..161277224 [GRCh37]
Chr1:1q23.3
likely pathogenic
NM_000530.8(MPZ):c.114C>G (p.Val38=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001440914] Chr1:161307378 [GRCh38]
Chr1:161277168 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.551del (p.Leu184fs) deletion Charcot-Marie-Tooth disease [RCV000857113] Chr1:161306362 [GRCh38]
Chr1:161276152 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.585-8T>C single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001461769] Chr1:161306176 [GRCh38]
Chr1:161275966 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.372G>A (p.Thr124=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001475870] Chr1:161306784 [GRCh38]
Chr1:161276574 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.333_336del (p.Ile112fs) deletion Charcot-Marie-Tooth disease, type I [RCV001036759] Chr1:161306820..161306823 [GRCh38]
Chr1:161276610..161276613 [GRCh37]
Chr1:1q23.3
pathogenic
NM_000530.8(MPZ):c.646-5C>A single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001048051] Chr1:161305982 [GRCh38]
Chr1:161275772 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.109G>A (p.Glu37Lys) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001048070] Chr1:161307383 [GRCh38]
Chr1:161277173 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.258_265delinsCCTCT (p.Gln86_Ile89delinsHisLeuPhe) indel Dejerine-Sottas disease [RCV000789476] Chr1:161306891..161306898 [GRCh38]
Chr1:161276681..161276688 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.407T>A (p.Val136Glu) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001060793]|Dejerine-Sottas disease [RCV000790054] Chr1:161306749 [GRCh38]
Chr1:161276539 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.372_377del (p.Phe125_Thr126del) deletion Dejerine-Sottas disease [RCV000790118] Chr1:161306779..161306784 [GRCh38]
Chr1:161276569..161276574 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.278G>C (p.Gly93Ala) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789420] Chr1:161306878 [GRCh38]
Chr1:161276668 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.161C>G (p.Ser54Cys) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789437]|Charcot-Marie-Tooth disease, type I [RCV001224441]|not provided [RCV003130036] Chr1:161307331 [GRCh38]
Chr1:161277121 [GRCh37]
Chr1:1q23.3
likely pathogenic|uncertain significance
NM_000530.8(MPZ):c.397C>T (p.Pro133Ser) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789457]|Charcot-Marie-Tooth disease, type I [RCV002535802]|not provided [RCV001552197] Chr1:161306759 [GRCh38]
Chr1:161276549 [GRCh37]
Chr1:1q23.3
likely pathogenic|uncertain significance
NM_000530.8(MPZ):c.578G>A (p.Arg193Lys) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789458] Chr1:161306335 [GRCh38]
Chr1:161276125 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.89T>G (p.Ile30Ser) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789461]|Charcot-Marie-Tooth disease, type I [RCV001377519] Chr1:161307403 [GRCh38]
Chr1:161277193 [GRCh37]
Chr1:1q23.3
likely pathogenic|uncertain significance
NM_000530.8(MPZ):c.148T>G (p.Cys50Gly) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789464] Chr1:161307344 [GRCh38]
Chr1:161277134 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.94G>T (p.Val32Phe) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789622]|not provided [RCV003311888] Chr1:161307398 [GRCh38]
Chr1:161277188 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.204C>A (p.Tyr68Ter) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789716]|Charcot-Marie-Tooth disease, type I [RCV002536919] Chr1:161307288 [GRCh38]
Chr1:161277078 [GRCh37]
Chr1:1q23.3
pathogenic
NM_000530.8(MPZ):c.554del (p.Arg185fs) deletion Charcot-Marie-Tooth disease [RCV000790055] Chr1:161306359 [GRCh38]
Chr1:161276149 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.130_137del (p.Ser44fs) deletion Charcot-Marie-Tooth disease [RCV000790065]|Charcot-Marie-Tooth disease, type I [RCV001044115]|not provided [RCV001507502] Chr1:161307355..161307362 [GRCh38]
Chr1:161277145..161277152 [GRCh37]
Chr1:1q23.3
pathogenic|likely pathogenic|uncertain significance
NM_000530.8(MPZ):c.560del (p.Gln187fs) deletion Charcot-Marie-Tooth disease [RCV000790076] Chr1:161306353 [GRCh38]
Chr1:161276143 [GRCh37]
Chr1:1q23.3
pathogenic
NM_000530.8(MPZ):c.242A>T (p.His81Leu) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790093]|Charcot-Marie-Tooth disease dominant intermediate D [RCV002290042]|Charcot-Marie-Tooth disease, type I [RCV001873225] Chr1:161306914 [GRCh38]
Chr1:161276704 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.209C>T (p.Pro70Leu) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790104] Chr1:161307283 [GRCh38]
Chr1:161277073 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.410G>T (p.Gly137Val) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790110]|not provided [RCV002473137] Chr1:161306746 [GRCh38]
Chr1:161276536 [GRCh37]
Chr1:1q23.3
likely pathogenic|uncertain significance
NM_000530.8(MPZ):c.316C>T (p.Arg106Cys) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790114]|Charcot-Marie-Tooth disease, type I [RCV001061577]|Inborn genetic diseases [RCV002325494] Chr1:161306840 [GRCh38]
Chr1:161276630 [GRCh37]
Chr1:1q23.3
pathogenic|uncertain significance
NM_000530.8(MPZ):c.194C>A (p.Thr65Asn) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790308]|Charcot-Marie-Tooth disease type 1B [RCV002249496]|Charcot-Marie-Tooth disease, type I [RCV001390412] Chr1:161307298 [GRCh38]
Chr1:161277088 [GRCh37]
Chr1:1q23.3
pathogenic|likely pathogenic|uncertain significance
NM_000530.8(MPZ):c.431del (p.Leu144fs) deletion Charcot-Marie-Tooth disease [RCV000789477]|Charcot-Marie-Tooth disease, type I [RCV000797748]|MPZ-Related Disorders [RCV000778189] Chr1:161306725 [GRCh38]
Chr1:161276515 [GRCh37]
Chr1:1q23.3
pathogenic|uncertain significance
NM_000530.8(MPZ):c.550C>G (p.Leu184Val) single nucleotide variant Charcot-Marie-Tooth disease [RCV000857114] Chr1:161306363 [GRCh38]
Chr1:161276153 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.78G>C (p.Pro26=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV002540994] Chr1:161307414 [GRCh38]
Chr1:161277204 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.190_192del (p.Phe64del) deletion Charcot-Marie-Tooth disease type 1B [RCV003230591]|Dejerine-Sottas disease [RCV000789445] Chr1:161307300..161307302 [GRCh38]
Chr1:161277090..161277092 [GRCh37]
Chr1:1q23.3
likely pathogenic|uncertain significance
NM_000530.8(MPZ):c.123_125del (p.Val42del) deletion Dejerine-Sottas disease [RCV000789683] Chr1:161307367..161307369 [GRCh38]
Chr1:161277157..161277159 [GRCh37]
Chr1:1q23.3
uncertain significance
GRCh37/hg19 1q23.3(chr1:161224742-161429290)x3 copy number gain See cases [RCV002285067] Chr1:161224742..161429290 [GRCh37]
Chr1:1q23.3
pathogenic
GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325) copy number loss not provided [RCV000767779] Chr1:160369890..175796325 [GRCh37]
Chr1:1q23.2-25.1
pathogenic
NC_000001.10:g.(?_160786670)_(161332233_?)dup duplication Gastrointestinal stromal tumor [RCV000792787] Chr1:160816880..161362443 [GRCh38]
Chr1:160786670..161332233 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.538C>G (p.Arg180Gly) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000801405] Chr1:161306375 [GRCh38]
Chr1:161276165 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.448+64T>C single nucleotide variant not provided [RCV000843342] Chr1:161306644 [GRCh38]
Chr1:161276434 [GRCh37]
Chr1:1q23.3
benign
NM_000530.8(MPZ):c.211G>A (p.Glu71Lys) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173704]|Charcot-Marie-Tooth disease, type I [RCV001869373]|not provided [RCV000992319] Chr1:161307281 [GRCh38]
Chr1:161277071 [GRCh37]
Chr1:1q23.3
likely benign|uncertain significance
NM_000530.8(MPZ):c.317G>C (p.Arg106Pro) single nucleotide variant not provided [RCV000992320] Chr1:161306839 [GRCh38]
Chr1:161276629 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.655C>T (p.Leu219=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001421599] Chr1:161305968 [GRCh38]
Chr1:161275758 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.394C>T (p.Pro132Ser) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000818403] Chr1:161306762 [GRCh38]
Chr1:161276552 [GRCh37]
Chr1:1q23.3
likely pathogenic|uncertain significance
NM_000530.8(MPZ):c.417C>T (p.Thr139=) single nucleotide variant not provided [RCV000994154] Chr1:161306739 [GRCh38]
Chr1:161276529 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.67+111A>G single nucleotide variant not provided [RCV000826417] Chr1:161309728 [GRCh38]
Chr1:161279518 [GRCh37]
Chr1:1q23.3
benign
NM_000530.8(MPZ):c.646-5C>G single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000797031]|Inborn genetic diseases [RCV002534615] Chr1:161305982 [GRCh38]
Chr1:161275772 [GRCh37]
Chr1:1q23.3
likely benign|uncertain significance
NM_000530.8(MPZ):c.398C>T (p.Pro133Leu) single nucleotide variant Charcot-Marie-Tooth disease dominant intermediate D [RCV000787935] Chr1:161306758 [GRCh38]
Chr1:161276548 [GRCh37]
Chr1:1q23.3
likely pathogenic
NM_000530.8(MPZ):c.431T>C (p.Leu144Pro) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789447] Chr1:161306725 [GRCh38]
Chr1:161276515 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.98A>T (p.Tyr33Phe) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789462]|Charcot-Marie-Tooth disease, type I [RCV001856238] Chr1:161307394 [GRCh38]
Chr1:161277184 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.462C>A (p.Tyr154Ter) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789468]|Inborn genetic diseases [RCV002334462] Chr1:161306451 [GRCh38]
Chr1:161276241 [GRCh37]
Chr1:1q23.3
pathogenic|uncertain significance
NM_000530.8(MPZ):c.402C>A (p.Asp134Glu) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789470] Chr1:161306754 [GRCh38]
Chr1:161276544 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.149_151del (p.Cys50del) deletion Charcot-Marie-Tooth disease [RCV000789475] Chr1:161307341..161307343 [GRCh38]
Chr1:161277131..161277133 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.550_552delinsG (p.Leu184fs) indel Charcot-Marie-Tooth disease [RCV000789489]|Neuropathy, congenital hypomyelinating, 2 [RCV002279942] Chr1:161306361..161306363 [GRCh38]
Chr1:161276151..161276153 [GRCh37]
Chr1:1q23.3
pathogenic|uncertain significance
NM_000530.8(MPZ):c.235-1G>C single nucleotide variant Charcot-Marie-Tooth disease [RCV000789705] Chr1:161306922 [GRCh38]
Chr1:161276712 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.365A>G (p.Asn122Ser) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790053] Chr1:161306791 [GRCh38]
Chr1:161276581 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.143T>A (p.Leu48Gln) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790059] Chr1:161307349 [GRCh38]
Chr1:161277139 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.706A>G (p.Lys236Glu) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790067] Chr1:161305917 [GRCh38]
Chr1:161275707 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.243C>G (p.His81Gln) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790069] Chr1:161306913 [GRCh38]
Chr1:161276703 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.68-5_71del deletion Charcot-Marie-Tooth disease [RCV000790072] Chr1:161307421..161307429 [GRCh38]
Chr1:161277211..161277219 [GRCh37]
Chr1:1q23.3
pathogenic
NM_000530.8(MPZ):c.560_566del (p.Gln187fs) deletion Charcot-Marie-Tooth disease [RCV000790092] Chr1:161306347..161306353 [GRCh38]
Chr1:161276137..161276143 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.194C>T (p.Thr65Ile) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790105] Chr1:161307298 [GRCh38]
Chr1:161277088 [GRCh37]
Chr1:1q23.3
pathogenic|uncertain significance
NM_000530.8(MPZ):c.136G>A (p.Val46Met) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790307]|Charcot-Marie-Tooth disease, type I [RCV001061796] Chr1:161307356 [GRCh38]
Chr1:161277146 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.736G>A (p.Asp246Asn) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790310] Chr1:161305887 [GRCh38]
Chr1:161275677 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.45T>G (p.Ala15=) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790311] Chr1:161309861 [GRCh38]
Chr1:161279651 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.661G>A (p.Ala221Thr) single nucleotide variant Dejerine-Sottas disease [RCV000790109] Chr1:161305962 [GRCh38]
Chr1:161275752 [GRCh37]
Chr1:1q23.3
uncertain significance
GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1 copy number loss not provided [RCV000848773] Chr1:157321299..167391423 [GRCh37]
Chr1:1q23.1-24.2
pathogenic
NM_000530.8(MPZ):c.410G>C (p.Gly137Ala) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789421] Chr1:161306746 [GRCh38]
Chr1:161276536 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.626_630del (p.Ala209fs) deletion Charcot-Marie-Tooth disease [RCV000789422] Chr1:161306123..161306127 [GRCh38]
Chr1:161275913..161275917 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.59C>T (p.Ser20Phe) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789433]|Charcot-Marie-Tooth disease dominant intermediate D [RCV001729703]|Charcot-Marie-Tooth disease type 2I [RCV002290039]|Charcot-Marie-Tooth disease, type I [RCV002536916] Chr1:161309847 [GRCh38]
Chr1:161279637 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.383A>G (p.Asp128Gly) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789444] Chr1:161306773 [GRCh38]
Chr1:161276563 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.681A>T (p.Arg227Ser) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789450]|Charcot-Marie-Tooth disease dominant intermediate D [RCV003152732]|Charcot-Marie-Tooth disease, type I [RCV002535801]|not provided [RCV001093011] Chr1:161305942 [GRCh38]
Chr1:161275732 [GRCh37]
Chr1:1q23.3
pathogenic|likely pathogenic|uncertain significance
NM_000530.8(MPZ):c.401A>G (p.Asp134Gly) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789451] Chr1:161306755 [GRCh38]
Chr1:161276545 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.742A>T (p.Lys248Ter) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789459] Chr1:161305881 [GRCh38]
Chr1:161275671 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.553del (p.Arg185fs) deletion Charcot-Marie-Tooth disease [RCV000789463] Chr1:161306360 [GRCh38]
Chr1:161276150 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.292C>A (p.Arg98Ser) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789495] Chr1:161306864 [GRCh38]
Chr1:161276654 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.416C>A (p.Thr139Asn) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789453] Chr1:161306740 [GRCh38]
Chr1:161276530 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.128G>T (p.Gly43Val) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789454] Chr1:161307364 [GRCh38]
Chr1:161277154 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.150C>G (p.Cys50Trp) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789456] Chr1:161307342 [GRCh38]
Chr1:161277132 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.395C>T (p.Pro132Leu) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789482] Chr1:161306761 [GRCh38]
Chr1:161276551 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.346A>C (p.Asn116His) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789492] Chr1:161306810 [GRCh38]
Chr1:161276600 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.391A>T (p.Asn131Tyr) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789494] Chr1:161306765 [GRCh38]
Chr1:161276555 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.368_382del (p.Gly123_Cys127del) deletion Charcot-Marie-Tooth disease [RCV000789689] Chr1:161306774..161306788 [GRCh38]
Chr1:161276564..161276578 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.449-1G>C single nucleotide variant Charcot-Marie-Tooth disease [RCV000790056] Chr1:161306465 [GRCh38]
Chr1:161276255 [GRCh37]
Chr1:1q23.3
pathogenic|uncertain significance
NM_000530.8(MPZ):c.352G>A (p.Asp118Asn) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790066] Chr1:161306804 [GRCh38]
Chr1:161276594 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.211G>T (p.Glu71Ter) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790085]|Charcot-Marie-Tooth disease, type I [RCV001869230] Chr1:161307281 [GRCh38]
Chr1:161277071 [GRCh37]
Chr1:1q23.3
pathogenic|uncertain significance
NM_000530.8(MPZ):c.245A>C (p.Tyr82Ser) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790097] Chr1:161306911 [GRCh38]
Chr1:161276701 [GRCh37]
Chr1:1q23.3
pathogenic|uncertain significance
NM_000530.8(MPZ):c.223del (p.Asp75fs) deletion Charcot-Marie-Tooth disease [RCV000790103] Chr1:161307269 [GRCh38]
Chr1:161277059 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.436G>T (p.Val146Phe) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790106] Chr1:161306720 [GRCh38]
Chr1:161276510 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.616G>T (p.Gly206Ter) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790121] Chr1:161306137 [GRCh38]
Chr1:161275927 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.394C>A (p.Pro132Thr) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790061] Chr1:161306762 [GRCh38]
Chr1:161276552 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.428C>G (p.Thr143Arg) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790062] Chr1:161306728 [GRCh38]
Chr1:161276518 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.290_293del (p.Glu97fs) deletion Charcot-Marie-Tooth disease [RCV000790064] Chr1:161306863..161306866 [GRCh38]
Chr1:161276653..161276656 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.449-1G>T single nucleotide variant Charcot-Marie-Tooth disease [RCV000790068] Chr1:161306465 [GRCh38]
Chr1:161276255 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.570del (p.Gln191fs) deletion Charcot-Marie-Tooth disease [RCV000790080] Chr1:161306343 [GRCh38]
Chr1:161276133 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.449-1G>A single nucleotide variant Charcot-Marie-Tooth disease [RCV000790086] Chr1:161306465 [GRCh38]
Chr1:161276255 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.173T>A (p.Val58Asp) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790089]|Charcot-Marie-Tooth disease, type I [RCV002535812]|Roussy-Lévy syndrome [RCV001198086] Chr1:161307319 [GRCh38]
Chr1:161277109 [GRCh37]
Chr1:1q23.3
likely pathogenic|uncertain significance
NM_000530.8(MPZ):c.405A>G (p.Ile135Met) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790091] Chr1:161306751 [GRCh38]
Chr1:161276541 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.384C>G (p.Asp128Glu) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790101] Chr1:161306772 [GRCh38]
Chr1:161276562 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.310G>A (p.Asp104Asn) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000791502] Chr1:161306846 [GRCh38]
Chr1:161276636 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.585-7_585-5del microsatellite Charcot-Marie-Tooth disease, type I [RCV002549794]|Inborn genetic diseases [RCV002354900]|not provided [RCV000992321] Chr1:161306173..161306175 [GRCh38]
Chr1:161275963..161275965 [GRCh37]
Chr1:1q23.3
likely benign|uncertain significance
NM_000530.8(MPZ):c.362A>G (p.Asp121Gly) single nucleotide variant Charcot-Marie-Tooth disease type 1B [RCV001353168]|Charcot-Marie-Tooth disease, type I [RCV000814912] Chr1:161306794 [GRCh38]
Chr1:161276584 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.532G>C (p.Val178Leu) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000819085] Chr1:161306381 [GRCh38]
Chr1:161276171 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.68-1G>A single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000811587]|Inborn genetic diseases [RCV003380742]|not provided [RCV001507503] Chr1:161307425 [GRCh38]
Chr1:161277215 [GRCh37]
Chr1:1q23.3
pathogenic|likely pathogenic
NM_000530.8(MPZ):c.68-3C>A single nucleotide variant Charcot-Marie-Tooth disease [RCV001174316]|Charcot-Marie-Tooth disease, type I [RCV000793272]|not provided [RCV003482306] Chr1:161307427 [GRCh38]
Chr1:161277217 [GRCh37]
Chr1:1q23.3
uncertain significance
GRCh37/hg19 1q23.3(chr1:161257930-161344485)x3 copy number gain not provided [RCV000846252] Chr1:161257930..161344485 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.67+272C>A single nucleotide variant not provided [RCV000828664] Chr1:161309567 [GRCh38]
Chr1:161279357 [GRCh37]
Chr1:1q23.3
benign
NM_000530.8(MPZ):c.380G>A (p.Cys127Tyr) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV002536917]|Dejerine-Sottas disease [RCV000789474] Chr1:161306776 [GRCh38]
Chr1:161276566 [GRCh37]
Chr1:1q23.3
pathogenic|likely pathogenic|uncertain significance
NM_000530.8(MPZ):c.661_662dup (p.Met222fs) duplication Dejerine-Sottas disease [RCV000790111] Chr1:161305960..161305961 [GRCh38]
Chr1:161275750..161275751 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.522_525del (p.Leu175fs) deletion Dejerine-Sottas disease [RCV000790302] Chr1:161306388..161306391 [GRCh38]
Chr1:161276178..161276181 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.637G>A (p.Gly213Arg) single nucleotide variant Neuropathy, congenital hypomyelinating, 2 [RCV000791124]|not provided [RCV002261203] Chr1:161306116 [GRCh38]
Chr1:161275906 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.412A>G (p.Lys138Glu) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000824269] Chr1:161306744 [GRCh38]
Chr1:161276534 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.329G>A (p.Gly110Asp) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789430] Chr1:161306827 [GRCh38]
Chr1:161276617 [GRCh37]
Chr1:1q23.3
likely pathogenic|uncertain significance
NM_000530.8(MPZ):c.449-9C>T single nucleotide variant Charcot-Marie-Tooth disease [RCV000789449]|Charcot-Marie-Tooth disease type 1B [RCV003126936]|Charcot-Marie-Tooth disease, type I [RCV002061138] Chr1:161306473 [GRCh38]
Chr1:161276263 [GRCh37]
Chr1:1q23.3
likely benign|uncertain significance
NM_000530.8(MPZ):c.142C>G (p.Leu48Val) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789455]|Charcot-Marie-Tooth disease, type I [RCV001231857] Chr1:161307350 [GRCh38]
Chr1:161277140 [GRCh37]
Chr1:1q23.3
likely pathogenic|uncertain significance
NM_000530.8(MPZ):c.227C>T (p.Ala76Val) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789466] Chr1:161307265 [GRCh38]
Chr1:161277055 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.543C>G (p.Tyr181Ter) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789469] Chr1:161306370 [GRCh38]
Chr1:161276160 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.296T>C (p.Ile99Thr) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789473]|Charcot-Marie-Tooth disease, type I [RCV000812847] Chr1:161306860 [GRCh38]
Chr1:161276650 [GRCh37]
Chr1:1q23.3
pathogenic|uncertain significance
NM_000530.8(MPZ):c.367G>T (p.Gly123Cys) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789493] Chr1:161306789 [GRCh38]
Chr1:161276579 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.421C>T (p.Gln141Ter) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789498] Chr1:161306735 [GRCh38]
Chr1:161276525 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.645+2dup duplication Charcot-Marie-Tooth disease [RCV000789684] Chr1:161306104..161306105 [GRCh38]
Chr1:161275894..161275895 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.197G>A (p.Trp66Ter) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789715]|not provided [RCV001662819] Chr1:161307295 [GRCh38]
Chr1:161277085 [GRCh37]
Chr1:1q23.3
pathogenic
NM_000530.8(MPZ):c.307G>T (p.Gly103Trp) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790060] Chr1:161306849 [GRCh38]
Chr1:161276639 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.486del (p.Ile162fs) deletion Charcot-Marie-Tooth disease [RCV000790075]|Charcot-Marie-Tooth disease, type I [RCV001040610]|Intellectual disability [RCV000850194] Chr1:161306427 [GRCh38]
Chr1:161276217 [GRCh37]
Chr1:1q23.3
pathogenic|likely pathogenic
NM_000530.8(MPZ):c.303G>C (p.Trp101Cys) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790087]|MPZ-Related Disorders [RCV003317367] Chr1:161306853 [GRCh38]
Chr1:161276643 [GRCh37]
Chr1:1q23.3
likely pathogenic|uncertain significance
NM_000530.8(MPZ):c.370A>G (p.Thr124Ala) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790096] Chr1:161306786 [GRCh38]
Chr1:161276576 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.382G>A (p.Asp128Asn) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790098]|Charcot-Marie-Tooth disease, type I [RCV000813380] Chr1:161306774 [GRCh38]
Chr1:161276564 [GRCh37]
Chr1:1q23.3
likely pathogenic|uncertain significance
NM_000530.8(MPZ):c.368G>T (p.Gly123Val) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790107] Chr1:161306788 [GRCh38]
Chr1:161276578 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.396_397del (p.Pro133fs) deletion Charcot-Marie-Tooth disease [RCV000790112] Chr1:161306759..161306760 [GRCh38]
Chr1:161276549..161276550 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.679A>G (p.Arg227Gly) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790123] Chr1:161305944 [GRCh38]
Chr1:161275734 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.159G>A (p.Trp53Ter) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000793801] Chr1:161307333 [GRCh38]
Chr1:161277123 [GRCh37]
Chr1:1q23.3
pathogenic
NM_000530.6(MPZ):c.-187T>C single nucleotide variant not provided [RCV000843341] Chr1:161310092 [GRCh38]
Chr1:161279882 [GRCh37]
Chr1:1q23.3
benign
NM_000530.8(MPZ):c.448+122C>T single nucleotide variant not provided [RCV000843343] Chr1:161306586 [GRCh38]
Chr1:161276376 [GRCh37]
Chr1:1q23.3
benign
NM_000530.8(MPZ):c.574_575del (p.Arg192fs) microsatellite Charcot-Marie-Tooth disease [RCV000789428] Chr1:161306338..161306339 [GRCh38]
Chr1:161276128..161276129 [GRCh37]
Chr1:1q23.3
pathogenic
NM_000530.8(MPZ):c.101C>T (p.Thr34Ile) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789435]|Charcot-Marie-Tooth disease type 1B [RCV002249492] Chr1:161307391 [GRCh38]
Chr1:161277181 [GRCh37]
Chr1:1q23.3
likely pathogenic|uncertain significance
NM_000530.8(MPZ):c.131C>G (p.Ser44Cys) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789472] Chr1:161307361 [GRCh38]
Chr1:161277151 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.1A>G (p.Met1Val) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789714]|Charcot-Marie-Tooth disease, type I [RCV001323341]|not provided [RCV002225729] Chr1:161309905 [GRCh38]
Chr1:161279695 [GRCh37]
Chr1:1q23.3
pathogenic|likely pathogenic|uncertain significance
NM_000530.8(MPZ):c.437T>G (p.Val146Gly) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790063] Chr1:161306719 [GRCh38]
Chr1:161276509 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.166G>A (p.Glu56Lys) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790081]|Charcot-Marie-Tooth disease, type I [RCV001364436]|Inborn genetic diseases [RCV002397561]|not provided [RCV001268254] Chr1:161307326 [GRCh38]
Chr1:161277116 [GRCh37]
Chr1:1q23.3
likely pathogenic|uncertain significance
NM_000530.8(MPZ):c.208C>T (p.Pro70Ser) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790088]|Charcot-Marie-Tooth disease, type I [RCV001869231] Chr1:161307284 [GRCh38]
Chr1:161277074 [GRCh37]
Chr1:1q23.3
pathogenic|uncertain significance
NM_000530.8(MPZ):c.435T>A (p.Tyr145Ter) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790094]|Charcot-Marie-Tooth disease, type I [RCV001233191] Chr1:161306721 [GRCh38]
Chr1:161276511 [GRCh37]
Chr1:1q23.3
pathogenic|likely pathogenic|uncertain significance
NM_000530.8(MPZ):c.392A>G (p.Asn131Ser) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790100]|Charcot-Marie-Tooth disease, type I [RCV001385506] Chr1:161306764 [GRCh38]
Chr1:161276554 [GRCh37]
Chr1:1q23.3
pathogenic|uncertain significance
NM_000530.8(MPZ):c.679A>T (p.Arg227Ter) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790108] Chr1:161305944 [GRCh38]
Chr1:161275734 [GRCh37]
Chr1:1q23.3
pathogenic|uncertain significance
NM_000530.8(MPZ):c.342A>G (p.Ile114Met) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790113]|Charcot-Marie-Tooth disease, type I [RCV001339129] Chr1:161306814 [GRCh38]
Chr1:161276604 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.327T>A (p.Asp109Glu) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790117] Chr1:161306829 [GRCh38]
Chr1:161276619 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.332C>T (p.Ser111Phe) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790122] Chr1:161306824 [GRCh38]
Chr1:161276614 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.199C>T (p.Arg67Cys) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790124]|Charcot-Marie-Tooth disease, type I [RCV002536920]|not provided [RCV000994158] Chr1:161307293 [GRCh38]
Chr1:161277083 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.160T>C (p.Ser54Pro) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789427] Chr1:161307332 [GRCh38]
Chr1:161277122 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.200G>C (p.Arg67Pro) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789443]|Charcot-Marie-Tooth disease, type I [RCV001856237] Chr1:161307292 [GRCh38]
Chr1:161277082 [GRCh37]
Chr1:1q23.3
likely pathogenic|uncertain significance
NM_000530.8(MPZ):c.414G>C (p.Lys138Asn) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789452] Chr1:161306742 [GRCh38]
Chr1:161276532 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.-10_-6dup duplication Charcot-Marie-Tooth disease [RCV000789478] Chr1:161309910..161309911 [GRCh38]
Chr1:161279700..161279701 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.203A>G (p.Tyr68Cys) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789481] Chr1:161307289 [GRCh38]
Chr1:161277079 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.143T>C (p.Leu48Pro) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789488] Chr1:161307349 [GRCh38]
Chr1:161277139 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.201C>T (p.Arg67=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000920361] Chr1:161307291 [GRCh38]
Chr1:161277081 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.184A>G (p.Ile62Val) single nucleotide variant Charcot-Marie-Tooth disease dominant intermediate D [RCV001099393]|Charcot-Marie-Tooth disease type 1B [RCV001099396]|Neuropathy, congenital hypomyelinating, 2 [RCV001099394]|Roussy-Lévy syndrome [RCV001099395] Chr1:161307308 [GRCh38]
Chr1:161277098 [GRCh37]
Chr1:1q23.3
uncertain significance
NC_000001.11:g.(?_161305674)_(161309915_?)dup duplication Charcot-Marie-Tooth disease, type I [RCV001031032] Chr1:161275464..161279705 [GRCh37]
Chr1:1q23.3
pathogenic
GRCh37/hg19 1q23.3(chr1:160744174-162583871)x3 copy number gain not provided [RCV000849025] Chr1:160744174..162583871 [GRCh37]
Chr1:1q23.3
uncertain significance
GRCh37/hg19 1q23.3(chr1:161213062-161437757)x3 copy number gain not provided [RCV000849990] Chr1:161213062..161437757 [GRCh37]
Chr1:1q23.3
uncertain significance
GRCh37/hg19 1q23.3(chr1:161134612-161422225)x3 copy number gain not provided [RCV000848107] Chr1:161134612..161422225 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.699_702del (p.Ser233fs) deletion Inborn genetic diseases [RCV003160168]|not provided [RCV001008812] Chr1:161305921..161305924 [GRCh38]
Chr1:161275711..161275714 [GRCh37]
Chr1:1q23.3
likely pathogenic
NC_000001.11:g.(?_160816880)_(161362518_?)dup duplication Gastrointestinal stromal tumor [RCV001031279] Chr1:160786670..161332308 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.174C>T (p.Val58=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174329] Chr1:161307318 [GRCh38]
Chr1:161277108 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.612G>C (p.Lys204Asn) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174322]|Charcot-Marie-Tooth disease, type I [RCV001873638] Chr1:161306141 [GRCh38]
Chr1:161275931 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.645+10A>G single nucleotide variant Charcot-Marie-Tooth disease [RCV001174334]|Charcot-Marie-Tooth disease, type I [RCV002559672] Chr1:161306098 [GRCh38]
Chr1:161275888 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.162C>A (p.Ser54=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001203252] Chr1:161307330 [GRCh38]
Chr1:161277120 [GRCh37]
Chr1:1q23.3
likely benign|uncertain significance
NM_000530.8(MPZ):c.431_433del (p.Leu144_Tyr145delinsHis) deletion Charcot-Marie-Tooth disease, type I [RCV001220495] Chr1:161306723..161306725 [GRCh38]
Chr1:161276513..161276515 [GRCh37]
Chr1:1q23.3
pathogenic|likely pathogenic|uncertain significance
NM_000530.8(MPZ):c.407T>G (p.Val136Gly) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001237700] Chr1:161306749 [GRCh38]
Chr1:161276539 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.20C>G (p.Ser7Ter) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001210626] Chr1:161309886 [GRCh38]
Chr1:161279676 [GRCh37]
Chr1:1q23.3
pathogenic
NM_000530.8(MPZ):c.103G>C (p.Asp35His) single nucleotide variant Charcot-Marie-Tooth disease dominant intermediate D [RCV001200043] Chr1:161307389 [GRCh38]
Chr1:161277179 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.235-1G>T single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001204567]|not provided [RCV001532562] Chr1:161306922 [GRCh38]
Chr1:161276712 [GRCh37]
Chr1:1q23.3
pathogenic|likely pathogenic
NM_000530.8(MPZ):c.164G>A (p.Ser55Asn) single nucleotide variant Inborn genetic diseases [RCV003249421] Chr1:161307328 [GRCh38]
Chr1:161277118 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.615_617delinsC (p.Gly206fs) indel not provided [RCV001008332] Chr1:161306136..161306138 [GRCh38]
Chr1:161275926..161275928 [GRCh37]
Chr1:1q23.3
likely pathogenic
NM_000530.8(MPZ):c.235-166C>T single nucleotide variant not provided [RCV001562533] Chr1:161307087 [GRCh38]
Chr1:161276877 [GRCh37]
Chr1:1q23.3
likely benign
NC_000001.11:g.161304658G>C single nucleotide variant not provided [RCV001654424] Chr1:161304658 [GRCh38]
Chr1:161274448 [GRCh37]
Chr1:1q23.3
benign
NM_000530.8(MPZ):c.223G>T (p.Asp75Tyr) single nucleotide variant not provided [RCV001665496] Chr1:161307269 [GRCh38]
Chr1:161277059 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.646-29G>C single nucleotide variant not provided [RCV001718492] Chr1:161306006 [GRCh38]
Chr1:161275796 [GRCh37]
Chr1:1q23.3
benign
NM_000530.8(MPZ):c.649C>G (p.Pro217Ala) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001035129] Chr1:161305974 [GRCh38]
Chr1:161275764 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.584+3A>T single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001245066] Chr1:161306326 [GRCh38]
Chr1:161276116 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.*522C>A single nucleotide variant Charcot-Marie-Tooth disease dominant intermediate D [RCV001099177]|Charcot-Marie-Tooth disease type 1B [RCV001099176]|Neuropathy, congenital hypomyelinating, 2 [RCV001099175]|Roussy-Lévy syndrome [RCV001099178] Chr1:161305354 [GRCh38]
Chr1:161275144 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.263A>C (p.Tyr88Ser) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001216570] Chr1:161306893 [GRCh38]
Chr1:161276683 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.382G>C (p.Asp128His) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001237277] Chr1:161306774 [GRCh38]
Chr1:161276564 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.113T>A (p.Val38Asp) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001066303] Chr1:161307379 [GRCh38]
Chr1:161277169 [GRCh37]
Chr1:1q23.3
likely pathogenic
NM_000530.8(MPZ):c.444A>T (p.Glu148Asp) single nucleotide variant Charcot-Marie-Tooth disease dominant intermediate D [RCV001095839]|Charcot-Marie-Tooth disease type 1B [RCV001095840]|Neuropathy, congenital hypomyelinating, 2 [RCV001095837]|Roussy-Lévy syndrome [RCV001095838] Chr1:161306712 [GRCh38]
Chr1:161276502 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.491dup (p.Val165fs) duplication Charcot-Marie-Tooth disease, type I [RCV001220841] Chr1:161306421..161306422 [GRCh38]
Chr1:161276211..161276212 [GRCh37]
Chr1:1q23.3
pathogenic
NM_000530.8(MPZ):c.325G>C (p.Asp109His) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001067101] Chr1:161306831 [GRCh38]
Chr1:161276621 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.549G>A (p.Trp183Ter) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173696] Chr1:161306364 [GRCh38]
Chr1:161276154 [GRCh37]
Chr1:1q23.3
likely pathogenic
NM_000530.8(MPZ):c.392dup (p.Asn131fs) duplication Roussy-Lévy syndrome [RCV001197014] Chr1:161306763..161306764 [GRCh38]
Chr1:161276553..161276554 [GRCh37]
Chr1:1q23.3
likely pathogenic
NM_000530.8(MPZ):c.738T>C (p.Asp246=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001396703] Chr1:161305885 [GRCh38]
Chr1:161275675 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.585-5T>C single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001461746] Chr1:161306173 [GRCh38]
Chr1:161275963 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.648G>T (p.Thr216=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001446185] Chr1:161305975 [GRCh38]
Chr1:161275765 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.102C>T (p.Thr34=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV002066352] Chr1:161307390 [GRCh38]
Chr1:161277180 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.654G>A (p.Val218=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001493520] Chr1:161305969 [GRCh38]
Chr1:161275759 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.260C>A (p.Pro87His) single nucleotide variant not provided [RCV000994156] Chr1:161306896 [GRCh38]
Chr1:161276686 [GRCh37]
Chr1:1q23.3
uncertain significance
GRCh37/hg19 1q23.3(chr1:161134675-161652307)x3 copy number gain not provided [RCV001005146] Chr1:161134675..161652307 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.275T>A (p.Val92Glu) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001066588] Chr1:161306881 [GRCh38]
Chr1:161276671 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.67+287del deletion not provided [RCV001540307] Chr1:161309552 [GRCh38]
Chr1:161279342 [GRCh37]
Chr1:1q23.3
benign
NM_000530.8(MPZ):c.505G>T (p.Val169Leu) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001050154]|Inborn genetic diseases [RCV002553216] Chr1:161306408 [GRCh38]
Chr1:161276198 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.319T>A (p.Trp107Arg) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174317] Chr1:161306837 [GRCh38]
Chr1:161276627 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.659A>G (p.Tyr220Cys) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174323] Chr1:161305964 [GRCh38]
Chr1:161275754 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.149G>C (p.Cys50Ser) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174326] Chr1:161307343 [GRCh38]
Chr1:161277133 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.*1C>T single nucleotide variant Charcot-Marie-Tooth disease [RCV001174330] Chr1:161305875 [GRCh38]
Chr1:161275665 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.361G>A (p.Asp121Asn) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001856276]|not provided [RCV001093012] Chr1:161306795 [GRCh38]
Chr1:161276585 [GRCh37]
Chr1:1q23.3
pathogenic
NM_000530.8(MPZ):c.270C>T (p.Asp90=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV002554861]|not provided [RCV001093013] Chr1:161306886 [GRCh38]
Chr1:161276676 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.67+285_67+286insT insertion not provided [RCV001587500] Chr1:161309553..161309554 [GRCh38]
Chr1:161279343..161279344 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.*435T>G single nucleotide variant Charcot-Marie-Tooth disease dominant intermediate D [RCV001099180]|Charcot-Marie-Tooth disease type 1B [RCV001099182]|Neuropathy, congenital hypomyelinating, 2 [RCV001099179]|Roussy-Lévy syndrome [RCV001099181] Chr1:161305441 [GRCh38]
Chr1:161275231 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.112del (p.Val38fs) deletion not provided [RCV001682637] Chr1:161307380 [GRCh38]
Chr1:161277170 [GRCh37]
Chr1:1q23.3
pathogenic
NM_000530.8(MPZ):c.401A>C (p.Asp134Ala) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001035263] Chr1:161306755 [GRCh38]
Chr1:161276545 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.200_201del (p.Arg67fs) microsatellite Charcot-Marie-Tooth disease [RCV001173694]|Charcot-Marie-Tooth disease, type I [RCV002558758]|not provided [RCV001664729] Chr1:161307291..161307292 [GRCh38]
Chr1:161277081..161277082 [GRCh37]
Chr1:1q23.3
pathogenic|likely pathogenic
NM_000530.8(MPZ):c.704A>G (p.Lys235Arg) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173702]|Charcot-Marie-Tooth disease, type I [RCV001225050] Chr1:161305919 [GRCh38]
Chr1:161275709 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.551T>C (p.Leu184Pro) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173701] Chr1:161306362 [GRCh38]
Chr1:161276152 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.603dup (p.Leu202fs) duplication Roussy-Lévy syndrome [RCV001198226] Chr1:161306149..161306150 [GRCh38]
Chr1:161275939..161275940 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.403A>T (p.Ile135Leu) single nucleotide variant Charcot-Marie-Tooth disease type 1B [RCV003152749]|Charcot-Marie-Tooth disease, type I [RCV001068529] Chr1:161306753 [GRCh38]
Chr1:161276543 [GRCh37]
Chr1:1q23.3
likely pathogenic
NM_000530.8(MPZ):c.95T>G (p.Val32Gly) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001042363] Chr1:161307397 [GRCh38]
Chr1:161277187 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.*102C>T single nucleotide variant Charcot-Marie-Tooth disease dominant intermediate D [RCV001097526]|Charcot-Marie-Tooth disease type 1B [RCV001097525]|Neuropathy, congenital hypomyelinating, 2 [RCV001097527]|Roussy-Lévy syndrome [RCV001097524] Chr1:161305774 [GRCh38]
Chr1:161275564 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.*341A>G single nucleotide variant Charcot-Marie-Tooth disease dominant intermediate D [RCV001097432]|Charcot-Marie-Tooth disease type 1B [RCV001097433]|Neuropathy, congenital hypomyelinating, 2 [RCV001097431]|Roussy-Lévy syndrome [RCV001097430] Chr1:161305535 [GRCh38]
Chr1:161275325 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.42G>A (p.Leu14=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174333]|not provided [RCV001311660] Chr1:161309864 [GRCh38]
Chr1:161279654 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.745T>C (p.Ter249Gln) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001247867] Chr1:161305878 [GRCh38]
Chr1:161275668 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.569T>C (p.Leu190Pro) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174320] Chr1:161306344 [GRCh38]
Chr1:161276134 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.208C>A (p.Pro70Thr) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174324] Chr1:161307284 [GRCh38]
Chr1:161277074 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.346A>T (p.Asn116Tyr) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174325] Chr1:161306810 [GRCh38]
Chr1:161276600 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.531C>T (p.Tyr177=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174332]|not provided [RCV003405366] Chr1:161306382 [GRCh38]
Chr1:161276172 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.700G>T (p.Glu234Ter) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001041106]|not provided [RCV001805988] Chr1:161305923 [GRCh38]
Chr1:161275713 [GRCh37]
Chr1:1q23.3
pathogenic|likely pathogenic|uncertain significance
NM_000530.8(MPZ):c.67+5G>T single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001202787] Chr1:161309834 [GRCh38]
Chr1:161279624 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.259C>T (p.Pro87Ser) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001059747] Chr1:161306897 [GRCh38]
Chr1:161276687 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.332C>A (p.Ser111Tyr) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001063999] Chr1:161306824 [GRCh38]
Chr1:161276614 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.448+2T>G single nucleotide variant Charcot-Marie-Tooth disease [RCV001173699] Chr1:161306706 [GRCh38]
Chr1:161276496 [GRCh37]
Chr1:1q23.3
likely pathogenic
NM_000530.8(MPZ):c.*903G>A single nucleotide variant Charcot-Marie-Tooth disease dominant intermediate D [RCV001100822]|Charcot-Marie-Tooth disease type 1B [RCV001100824]|Neuropathy, congenital hypomyelinating, 2 [RCV001100823]|Roussy-Lévy syndrome [RCV001100821] Chr1:161304973 [GRCh38]
Chr1:161274763 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.*752G>A single nucleotide variant Charcot-Marie-Tooth disease dominant intermediate D [RCV001101074]|Charcot-Marie-Tooth disease type 1B [RCV001101072]|Neuropathy, congenital hypomyelinating, 2 [RCV001101071]|Roussy-Lévy syndrome [RCV001101073] Chr1:161305124 [GRCh38]
Chr1:161274914 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.*369C>T single nucleotide variant Charcot-Marie-Tooth disease dominant intermediate D [RCV001101176]|Charcot-Marie-Tooth disease type 1B [RCV001101177]|Neuropathy, congenital hypomyelinating, 2 [RCV001101175]|Roussy-Lévy syndrome [RCV001101174] Chr1:161305507 [GRCh38]
Chr1:161275297 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.*360C>G single nucleotide variant Charcot-Marie-Tooth disease dominant intermediate D [RCV001101181]|Charcot-Marie-Tooth disease type 1B [RCV001101179]|Neuropathy, congenital hypomyelinating, 2 [RCV001101178]|Roussy-Lévy syndrome [RCV001101180]|not provided [RCV001847156] Chr1:161305516 [GRCh38]
Chr1:161275306 [GRCh37]
Chr1:1q23.3
benign|likely benign|uncertain significance
NM_000530.8(MPZ):c.91G>A (p.Val31Met) single nucleotide variant not provided [RCV001093016] Chr1:161307401 [GRCh38]
Chr1:161277191 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.646-3C>G single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001058977]|not specified [RCV001002395] Chr1:161305980 [GRCh38]
Chr1:161275770 [GRCh37]
Chr1:1q23.3
pathogenic|uncertain significance
NM_000530.8(MPZ):c.440T>G (p.Phe147Cys) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001037786] Chr1:161306716 [GRCh38]
Chr1:161276506 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.234G>A (p.Ser78=) single nucleotide variant Charcot-Marie-Tooth disease type 1B [RCV003482910]|Charcot-Marie-Tooth disease, type I [RCV001231540]|Dejerine-Sottas disease [RCV001329968]|Inborn genetic diseases [RCV002447158] Chr1:161307258 [GRCh38]
Chr1:161277048 [GRCh37]
Chr1:1q23.3
likely benign|uncertain significance
NM_000530.8(MPZ):c.303G>T (p.Trp101Cys) single nucleotide variant Charcot-Marie-Tooth disease type 1B [RCV003224529]|Charcot-Marie-Tooth disease, type I [RCV001215918] Chr1:161306853 [GRCh38]
Chr1:161276643 [GRCh37]
Chr1:1q23.3
likely pathogenic
NM_000530.8(MPZ):c.257A>C (p.Gln86Pro) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001214802] Chr1:161306899 [GRCh38]
Chr1:161276689 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.127G>A (p.Gly43Ser) single nucleotide variant Charcot-Marie-Tooth disease dominant intermediate D [RCV001253640] Chr1:161307365 [GRCh38]
Chr1:161277155 [GRCh37]
Chr1:1q23.3
uncertain significance
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44
uncertain significance
NM_000530.8(MPZ):c.*4T>G single nucleotide variant Charcot-Marie-Tooth disease dominant intermediate D [RCV001331963] Chr1:161305872 [GRCh38]
Chr1:161275662 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.88A>G (p.Ile30Val) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001350133]|not provided [RCV002473277] Chr1:161307404 [GRCh38]
Chr1:161277194 [GRCh37]
Chr1:1q23.3
likely pathogenic|uncertain significance
NM_000530.8(MPZ):c.646-2A>G single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV002538398]|not provided [RCV001291549] Chr1:161305979 [GRCh38]
Chr1:161275769 [GRCh37]
Chr1:1q23.3
likely pathogenic|uncertain significance
NM_000530.8(MPZ):c.412A>C (p.Lys138Gln) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001317161] Chr1:161306744 [GRCh38]
Chr1:161276534 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.645G>A (p.Gln215=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001302269] Chr1:161306108 [GRCh38]
Chr1:161275898 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.108G>C (p.Arg36Ser) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001309652] Chr1:161307384 [GRCh38]
Chr1:161277174 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.486C>G (p.Ile162Met) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001308866] Chr1:161306427 [GRCh38]
Chr1:161276217 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.171G>A (p.Trp57Ter) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001382906] Chr1:161307321 [GRCh38]
Chr1:161277111 [GRCh37]
Chr1:1q23.3
pathogenic
NM_000530.8(MPZ):c.362A>C (p.Asp121Ala) single nucleotide variant not provided [RCV001289098] Chr1:161306794 [GRCh38]
Chr1:161276584 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.216G>C (p.Gly72=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001433455] Chr1:161307276 [GRCh38]
Chr1:161277066 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.49C>T (p.Leu17=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001422397] Chr1:161309857 [GRCh38]
Chr1:161279647 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.345del (p.His115fs) deletion Charcot-Marie-Tooth disease, type I [RCV001382904] Chr1:161306811 [GRCh38]
Chr1:161276601 [GRCh37]
Chr1:1q23.3
pathogenic
NM_000530.8(MPZ):c.217G>T (p.Gly73Cys) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001315212] Chr1:161307275 [GRCh38]
Chr1:161277065 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.364A>G (p.Asn122Asp) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001313103] Chr1:161306792 [GRCh38]
Chr1:161276582 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.437T>C (p.Val146Ala) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001349555] Chr1:161306719 [GRCh38]
Chr1:161276509 [GRCh37]
Chr1:1q23.3
likely pathogenic|uncertain significance
NM_000530.8(MPZ):c.529T>A (p.Tyr177Asn) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001306212] Chr1:161306384 [GRCh38]
Chr1:161276174 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.107G>A (p.Arg36Lys) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001341827] Chr1:161307385 [GRCh38]
Chr1:161277175 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.326A>G (p.Asp109Gly) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001339692] Chr1:161306830 [GRCh38]
Chr1:161276620 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.377C>G (p.Thr126Ser) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001308662] Chr1:161306779 [GRCh38]
Chr1:161276569 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.382G>T (p.Asp128Tyr) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001374046] Chr1:161306774 [GRCh38]
Chr1:161276564 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.311A>G (p.Asp104Gly) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001309149] Chr1:161306845 [GRCh38]
Chr1:161276635 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.391A>C (p.Asn131His) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001316406] Chr1:161306765 [GRCh38]
Chr1:161276555 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.134G>A (p.Arg45Gln) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001307482]|Inborn genetic diseases [RCV002384380] Chr1:161307358 [GRCh38]
Chr1:161277148 [GRCh37]
Chr1:1q23.3
likely benign|uncertain significance
NM_000530.8(MPZ):c.67+4A>G single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001361126]|Inborn genetic diseases [RCV002368168] Chr1:161309835 [GRCh38]
Chr1:161279625 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.305T>A (p.Val102Glu) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001365711] Chr1:161306851 [GRCh38]
Chr1:161276641 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.243C>T (p.His81=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001488061] Chr1:161306913 [GRCh38]
Chr1:161276703 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.646-2A>C single nucleotide variant Peripheral neuropathy [RCV001541897] Chr1:161305979 [GRCh38]
Chr1:161275769 [GRCh37]
Chr1:1q23.3
likely pathogenic
NM_000530.8(MPZ):c.638_639del (p.Gly213fs) deletion Charcot-Marie-Tooth disease, type I [RCV001390456] Chr1:161306114..161306115 [GRCh38]
Chr1:161275904..161275905 [GRCh37]
Chr1:1q23.3
pathogenic
NM_000530.8(MPZ):c.448+2T>C single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001379624] Chr1:161306706 [GRCh38]
Chr1:161276496 [GRCh37]
Chr1:1q23.3
likely pathogenic
NM_000530.8(MPZ):c.597G>A (p.Lys199=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001464741] Chr1:161306156 [GRCh38]
Chr1:161275946 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.449-10C>T single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001468970] Chr1:161306474 [GRCh38]
Chr1:161276264 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.216G>A (p.Gly72=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001481578] Chr1:161307276 [GRCh38]
Chr1:161277066 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.429G>T (p.Thr143=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001483359] Chr1:161306727 [GRCh38]
Chr1:161276517 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.277G>A (p.Gly93Arg) single nucleotide variant Charcot-Marie-Tooth disease type 1B [RCV002246358]|Charcot-Marie-Tooth disease, type I [RCV001378760] Chr1:161306879 [GRCh38]
Chr1:161276669 [GRCh37]
Chr1:1q23.3
likely pathogenic
NM_000530.8(MPZ):c.401A>T (p.Asp134Val) single nucleotide variant Charcot-Marie-Tooth disease type 1B [RCV002250120] Chr1:161306755 [GRCh38]
Chr1:161276545 [GRCh37]
Chr1:1q23.3
pathogenic
NM_000530.8(MPZ):c.231T>G (p.Ile77Met) single nucleotide variant not provided [RCV001757976] Chr1:161307261 [GRCh38]
Chr1:161277051 [GRCh37]
Chr1:1q23.3
uncertain significance
GRCh37/hg19 1q23.3(chr1:161279433-161385237)x1 copy number loss not provided [RCV001795857] Chr1:161279433..161385237 [GRCh37]
Chr1:1q23.3
pathogenic
NM_000530.8(MPZ):c.692C>A (p.Ala231Asp) single nucleotide variant not provided [RCV001752134] Chr1:161305931 [GRCh38]
Chr1:161275721 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.675C>A (p.His225Gln) single nucleotide variant not provided [RCV001774060] Chr1:161305948 [GRCh38]
Chr1:161275738 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.130T>C (p.Ser44Pro) single nucleotide variant Motor neuron disease [RCV001795878] Chr1:161307362 [GRCh38]
Chr1:161277152 [GRCh37]
Chr1:1q23.3
likely pathogenic
NM_000530.8(MPZ):c.313C>T (p.Pro105Ser) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV002008595] Chr1:161306843 [GRCh38]
Chr1:161276633 [GRCh37]
Chr1:1q23.3
uncertain significance
GRCh37/hg19 1q23.3(chr1:161207984-161404272) copy number gain not specified [RCV002053669] Chr1:161207984..161404272 [GRCh37]
Chr1:1q23.3
likely pathogenic
NM_000530.8(MPZ):c.424del (p.Val142fs) deletion Charcot-Marie-Tooth disease, type I [RCV001929065] Chr1:161306732 [GRCh38]
Chr1:161276522 [GRCh37]
Chr1:1q23.3
pathogenic
NM_000530.8(MPZ):c.691G>A (p.Ala231Thr) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001863847] Chr1:161305932 [GRCh38]
Chr1:161275722 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.136G>C (p.Val46Leu) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001890814] Chr1:161307356 [GRCh38]
Chr1:161277146 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.386T>G (p.Val129Gly) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV002005361] Chr1:161306770 [GRCh38]
Chr1:161276560 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.295A>C (p.Ile99Leu) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001984431] Chr1:161306861 [GRCh38]
Chr1:161276651 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.37A>G (p.Ile13Val) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV002042902] Chr1:161309869 [GRCh38]
Chr1:161279659 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.448+12G>T single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV002040680] Chr1:161306696 [GRCh38]
Chr1:161276486 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.156C>G (p.Phe52Leu) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001966876] Chr1:161307336 [GRCh38]
Chr1:161277126 [GRCh37]
Chr1:1q23.3
likely pathogenic|uncertain significance
GRCh37/hg19 1q23.3(chr1:160859558-161409185)x3 copy number gain not provided [RCV001829131] Chr1:160859558..161409185 [GRCh37]
Chr1:1q23.3
likely pathogenic
GRCh37/hg19 1q23.2-24.1(chr1:160417296-166197042) copy number loss not specified [RCV002053658] Chr1:160417296..166197042 [GRCh37]
Chr1:1q23.2-24.1
pathogenic
NM_000530.8(MPZ):c.278G>T (p.Gly93Val) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001894101] Chr1:161306878 [GRCh38]
Chr1:161276668 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.466G>T (p.Val156Phe) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV002024471] Chr1:161306447 [GRCh38]
Chr1:161276237 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.345C>A (p.His115Gln) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001907330] Chr1:161306811 [GRCh38]
Chr1:161276601 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.703A>G (p.Lys235Glu) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001977025] Chr1:161305920 [GRCh38]
Chr1:161275710 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.350T>C (p.Leu117Pro) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001961092] Chr1:161306806 [GRCh38]
Chr1:161276596 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.498C>A (p.Leu166=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001924918] Chr1:161306415 [GRCh38]
Chr1:161276205 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.16C>T (p.Pro6Ser) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001937333] Chr1:161309890 [GRCh38]
Chr1:161279680 [GRCh37]
Chr1:1q23.3
uncertain significance
NC_000001.10:g.(?_158581054)_(162750036_?)dup duplication Autoimmune interstitial lung disease-arthritis syndrome [RCV001918952]|not provided [RCV001918953] Chr1:158581054..162750036 [GRCh37]
Chr1:1q23.1-23.3
uncertain significance|no classifications from unflagged records
NM_000530.8(MPZ):c.571C>T (p.Gln191Ter) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001989844] Chr1:161306342 [GRCh38]
Chr1:161276132 [GRCh37]
Chr1:1q23.3
pathogenic
NM_000530.8(MPZ):c.683G>A (p.Ser228Asn) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001977983] Chr1:161305940 [GRCh38]
Chr1:161275730 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.101C>G (p.Thr34Ser) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001915828] Chr1:161307391 [GRCh38]
Chr1:161277181 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.323del (p.Lys108fs) deletion Charcot-Marie-Tooth disease, type I [RCV001954621] Chr1:161306833 [GRCh38]
Chr1:161276623 [GRCh37]
Chr1:1q23.3
pathogenic
NM_000530.8(MPZ):c.230T>C (p.Ile77Thr) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV002017329] Chr1:161307262 [GRCh38]
Chr1:161277052 [GRCh37]
Chr1:1q23.3
uncertain significance
NC_000001.10:g.(?_161275666)_(161332223_?)dup duplication Charcot-Marie-Tooth disease, type I [RCV001956318] Chr1:161275666..161332223 [GRCh37]
Chr1:1q23.3
pathogenic
NM_000530.8(MPZ):c.234+16A>T single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001925511] Chr1:161307242 [GRCh38]
Chr1:161277032 [GRCh37]
Chr1:1q23.3
likely benign|uncertain significance
NM_000530.8(MPZ):c.589A>G (p.Met197Val) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001935733] Chr1:161306164 [GRCh38]
Chr1:161275954 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.566C>T (p.Ala189Val) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001898240] Chr1:161306347 [GRCh38]
Chr1:161276137 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.350T>G (p.Leu117Arg) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV002030214] Chr1:161306806 [GRCh38]
Chr1:161276596 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.232T>C (p.Ser78Pro) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001990442] Chr1:161307260 [GRCh38]
Chr1:161277050 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.253G>A (p.Gly85Arg) single nucleotide variant not provided [RCV002211120] Chr1:161306903 [GRCh38]
Chr1:161276693 [GRCh37]
Chr1:1q23.3
likely pathogenic
NM_000530.8(MPZ):c.585-12C>G single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV002109070] Chr1:161306180 [GRCh38]
Chr1:161275970 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.279G>A (p.Gly93=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV002130270] Chr1:161306877 [GRCh38]
Chr1:161276667 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.448+10G>A single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV002076290] Chr1:161306698 [GRCh38]
Chr1:161276488 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.297C>A (p.Ile99=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV002153639] Chr1:161306859 [GRCh38]
Chr1:161276649 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.585-19G>A single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV002214657] Chr1:161306187 [GRCh38]
Chr1:161275977 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.543C>T (p.Tyr181=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV002116936] Chr1:161306370 [GRCh38]
Chr1:161276160 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.335T>G (p.Ile112Ser) single nucleotide variant not provided [RCV002211119] Chr1:161306821 [GRCh38]
Chr1:161276611 [GRCh37]
Chr1:1q23.3
likely pathogenic
NM_000530.8(MPZ):c.333C>T (p.Ser111=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV002076469] Chr1:161306823 [GRCh38]
Chr1:161276613 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.168G>A (p.Glu56=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV002173865] Chr1:161307324 [GRCh38]
Chr1:161277114 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.449-2A>G single nucleotide variant Charcot-Marie-Tooth disease type 1B [RCV002249103] Chr1:161306466 [GRCh38]
Chr1:161276256 [GRCh37]
Chr1:1q23.3
likely pathogenic
NM_000530.8(MPZ):c.112G>T (p.Val38Phe) single nucleotide variant Charcot-Marie-Tooth disease dominant intermediate D [RCV002221381] Chr1:161307380 [GRCh38]
Chr1:161277170 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.67+10G>A single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV002184815] Chr1:161309829 [GRCh38]
Chr1:161279619 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.448+17G>A single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV002184485] Chr1:161306691 [GRCh38]
Chr1:161276481 [GRCh37]
Chr1:1q23.3
likely benign
NC_000001.10:g.(?_161275666)_(161279695_?)del deletion Charcot-Marie-Tooth disease, type I [RCV003111374] Chr1:161275666..161279695 [GRCh37]
Chr1:1q23.3
pathogenic
NC_000001.10:g.(?_161279609)_(161751809_?)dup duplication Charcot-Marie-Tooth disease, type I [RCV003111375] Chr1:161279609..161751809 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.463G>A (p.Gly155Arg) single nucleotide variant Charcot-Marie-Tooth disease type 2I [RCV003234830] Chr1:161306450 [GRCh38]
Chr1:161276240 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.29C>T (p.Pro10Leu) single nucleotide variant Inborn genetic diseases [RCV002435605] Chr1:161309877 [GRCh38]
Chr1:161279667 [GRCh37]
Chr1:1q23.3
uncertain significance
NC_000001.10:g.(161277215_161279628)_(161279763_?)dup duplication not specified [RCV003236450] Chr1:161279628..161279763 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.585-2A>G single nucleotide variant Charcot-Marie-Tooth disease type 1B [RCV002290418] Chr1:161306170 [GRCh38]
Chr1:161275960 [GRCh37]
Chr1:1q23.3
likely pathogenic
NM_000530.8(MPZ):c.448+1G>A single nucleotide variant not provided [RCV003231751] Chr1:161306707 [GRCh38]
Chr1:161276497 [GRCh37]
Chr1:1q23.3
pathogenic|likely pathogenic
GRCh37/hg19 1q23.3(chr1:161216755-161409359)x3 copy number gain not provided [RCV002291531] Chr1:161216755..161409359 [GRCh37]
Chr1:1q23.3
likely pathogenic
NM_000530.8(MPZ):c.50T>G (p.Leu17Arg) single nucleotide variant Inborn genetic diseases [RCV002351487] Chr1:161309856 [GRCh38]
Chr1:161279646 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.301dup (p.Trp101fs) duplication Inborn genetic diseases [RCV002435867] Chr1:161306854..161306855 [GRCh38]
Chr1:161276644..161276645 [GRCh37]
Chr1:1q23.3
pathogenic
GRCh37/hg19 1q23.3(chr1:161207985-161437998)x3 copy number gain not provided [RCV002473787] Chr1:161207985..161437998 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.585-6T>C single nucleotide variant Inborn genetic diseases [RCV002353364] Chr1:161306174 [GRCh38]
Chr1:161275964 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.724del (p.Glu242fs) deletion Inborn genetic diseases [RCV002371103] Chr1:161305899 [GRCh38]
Chr1:161275689 [GRCh37]
Chr1:1q23.3
likely pathogenic|uncertain significance
NM_000530.8(MPZ):c.79G>C (p.Ala27Pro) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV002297910] Chr1:161307413 [GRCh38]
Chr1:161277203 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.730C>A (p.Arg244Ser) single nucleotide variant Inborn genetic diseases [RCV002380041] Chr1:161305893 [GRCh38]
Chr1:161275683 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.17C>T (p.Pro6Leu) single nucleotide variant Inborn genetic diseases [RCV002407877] Chr1:161309889 [GRCh38]
Chr1:161279679 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.223G>C (p.Asp75His) single nucleotide variant Inborn genetic diseases [RCV002428358] Chr1:161307269 [GRCh38]
Chr1:161277059 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.590T>G (p.Met197Arg) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV002300536] Chr1:161306163 [GRCh38]
Chr1:161275953 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.179A>T (p.Asp60Val) single nucleotide variant Inborn genetic diseases [RCV002407841] Chr1:161307313 [GRCh38]
Chr1:161277103 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.322A>G (p.Lys108Glu) single nucleotide variant Inborn genetic diseases [RCV002445534] Chr1:161306834 [GRCh38]
Chr1:161276624 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.235A>G (p.Ile79Val) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV002296573] Chr1:161306921 [GRCh38]
Chr1:161276711 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.181dup (p.Asp61fs) duplication Inborn genetic diseases [RCV002410332] Chr1:161307310..161307311 [GRCh38]
Chr1:161277100..161277101 [GRCh37]
Chr1:1q23.3
pathogenic
NM_000530.8(MPZ):c.742A>G (p.Lys248Glu) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV002995352] Chr1:161305881 [GRCh38]
Chr1:161275671 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.388A>G (p.Lys130Glu) single nucleotide variant not provided [RCV002475389] Chr1:161306768 [GRCh38]
Chr1:161276558 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.374T>C (p.Phe125Ser) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV003012492] Chr1:161306782 [GRCh38]
Chr1:161276572 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.195C>G (p.Thr65=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV002618531] Chr1:161307297 [GRCh38]
Chr1:161277087 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.235-2A>G single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV002837992] Chr1:161306923 [GRCh38]
Chr1:161276713 [GRCh37]
Chr1:1q23.3
likely pathogenic
NM_000530.8(MPZ):c.646-20T>G single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV002815185] Chr1:161305997 [GRCh38]
Chr1:161275787 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.648G>A (p.Thr216=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV002881473] Chr1:161305975 [GRCh38]
Chr1:161275765 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.584+8G>A single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV003076415] Chr1:161306321 [GRCh38]
Chr1:161276111 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.584+18G>C single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV002705761] Chr1:161306311 [GRCh38]
Chr1:161276101 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.474G>A (p.Leu158=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV002760226] Chr1:161306439 [GRCh38]
Chr1:161276229 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.178G>A (p.Asp60Asn) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV003036942]|Peripheral neuropathy [RCV003036941] Chr1:161307314 [GRCh38]
Chr1:161277104 [GRCh37]
Chr1:1q23.3
likely pathogenic|uncertain significance
NM_000530.8(MPZ):c.558G>T (p.Arg186Ser) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV002998773] Chr1:161306355 [GRCh38]
Chr1:161276145 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.448+13A>T single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV003035835] Chr1:161306695 [GRCh38]
Chr1:161276485 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.728C>T (p.Ser243Phe) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV002885484] Chr1:161305895 [GRCh38]
Chr1:161275685 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.601A>T (p.Lys201Ter) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV002844038] Chr1:161306152 [GRCh38]
Chr1:161275942 [GRCh37]
Chr1:1q23.3
pathogenic
NM_000530.8(MPZ):c.34C>G (p.Pro12Ala) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV003005739] Chr1:161309872 [GRCh38]
Chr1:161279662 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.426_431del (p.Thr143_Leu144del) deletion Charcot-Marie-Tooth disease, type I [RCV002872470] Chr1:161306725..161306730 [GRCh38]
Chr1:161276515..161276520 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.67+15T>A single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV002852452] Chr1:161309824 [GRCh38]
Chr1:161279614 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.151T>A (p.Ser51Thr) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV003042120] Chr1:161307341 [GRCh38]
Chr1:161277131 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.496del (p.Leu166fs) deletion Charcot-Marie-Tooth disease, type I [RCV002871699] Chr1:161306417 [GRCh38]
Chr1:161276207 [GRCh37]
Chr1:1q23.3
pathogenic
NM_000530.8(MPZ):c.646-16_654dup duplication Charcot-Marie-Tooth disease, type I [RCV002872473] Chr1:161305968..161305969 [GRCh38]
Chr1:161275758..161275759 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.448+2T>A single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV003059368] Chr1:161306706 [GRCh38]
Chr1:161276496 [GRCh37]
Chr1:1q23.3
likely pathogenic
NM_000530.8(MPZ):c.378T>C (p.Thr126=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV002701149] Chr1:161306778 [GRCh38]
Chr1:161276568 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.304_305insC (p.Val102fs) insertion Charcot-Marie-Tooth disease, type I [RCV003047364] Chr1:161306851..161306852 [GRCh38]
Chr1:161276641..161276642 [GRCh37]
Chr1:1q23.3
pathogenic
NM_000530.8(MPZ):c.385G>T (p.Val129Phe) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV003048775] Chr1:161306771 [GRCh38]
Chr1:161276561 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.78G>A (p.Pro26=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV003064322] Chr1:161307414 [GRCh38]
Chr1:161277204 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.685A>G (p.Thr229Ala) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV002629147] Chr1:161305938 [GRCh38]
Chr1:161275728 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.448G>T (p.Val150Leu) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV003087278] Chr1:161306708 [GRCh38]
Chr1:161276498 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.140C>T (p.Thr47Ile) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV003045609] Chr1:161307352 [GRCh38]
Chr1:161277142 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.349C>A (p.Leu117Ile) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV002578866]|not provided [RCV003482415] Chr1:161306807 [GRCh38]
Chr1:161276597 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.555C>T (p.Arg185=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV002629029] Chr1:161306358 [GRCh38]
Chr1:161276148 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.379T>G (p.Cys127Gly) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV002649595] Chr1:161306777 [GRCh38]
Chr1:161276567 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.258_263dup (p.Tyr88Ter) duplication Charcot-Marie-Tooth disease, type I [RCV002648217] Chr1:161306892..161306893 [GRCh38]
Chr1:161276682..161276683 [GRCh37]
Chr1:1q23.3
pathogenic
NM_000530.8(MPZ):c.687C>T (p.Thr229=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV003028366] Chr1:161305936 [GRCh38]
Chr1:161275726 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.209C>A (p.Pro70His) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV003030129] Chr1:161307283 [GRCh38]
Chr1:161277073 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.234+13G>A single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV002653883] Chr1:161307245 [GRCh38]
Chr1:161277035 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.117T>A (p.His39Gln) single nucleotide variant not provided [RCV003132678] Chr1:161307375 [GRCh38]
Chr1:161277165 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.358A>G (p.Ser120Gly) single nucleotide variant not provided [RCV003132679] Chr1:161306798 [GRCh38]
Chr1:161276588 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.476G>C (p.Gly159Ala) single nucleotide variant Tip-toe gait [RCV003319578] Chr1:161306437 [GRCh38]
Chr1:161276227 [GRCh37]
Chr1:1q23.3
likely pathogenic
NM_000530.8(MPZ):c.212A>G (p.Glu71Gly) single nucleotide variant Charcot-Marie-Tooth disease type 1B [RCV003320396] Chr1:161307280 [GRCh38]
Chr1:161277070 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.73_74delinsA (p.Ser25fs) indel Charcot-Marie-Tooth disease dominant intermediate D [RCV003326233] Chr1:161307418..161307419 [GRCh38]
Chr1:161277208..161277209 [GRCh37]
Chr1:1q23.3
likely pathogenic
NM_000530.8(MPZ):c.304del (p.Trp101_Val102insTer) deletion Charcot-Marie-Tooth disease type 2J [RCV003327337] Chr1:161306852 [GRCh38]
Chr1:161276642 [GRCh37]
Chr1:1q23.3
pathogenic
NM_000530.8(MPZ):c.431T>A (p.Leu144Gln) single nucleotide variant not provided [RCV003326763] Chr1:161306725 [GRCh38]
Chr1:161276515 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.215G>A (p.Gly72Glu) single nucleotide variant Charcot-Marie-Tooth disease dominant intermediate D [RCV003484534] Chr1:161307277 [GRCh38]
Chr1:161277067 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.234+1G>A single nucleotide variant Charcot-Marie-Tooth disease type 1B [RCV003482911] Chr1:161307257 [GRCh38]
Chr1:161277047 [GRCh37]
Chr1:1q23.3
pathogenic
NM_000530.8(MPZ):c.597G>C (p.Lys199Asn) single nucleotide variant Charcot-Marie-Tooth disease type 2I [RCV003388742] Chr1:161306156 [GRCh38]
Chr1:161275946 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.80C>G (p.Ala27Gly) single nucleotide variant not provided [RCV003481543] Chr1:161307412 [GRCh38]
Chr1:161277202 [GRCh37]
Chr1:1q23.3
uncertain significance
GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1 copy number loss not provided [RCV003483944] Chr1:158001058..162858285 [GRCh37]
Chr1:1q23.1-23.3
likely pathogenic
NM_000530.8(MPZ):c.234G>T (p.Ser78=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV003825672] Chr1:161307258 [GRCh38]
Chr1:161277048 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.262T>A (p.Tyr88Asn) single nucleotide variant Charcot-Marie-Tooth disease type 1B [RCV003388711] Chr1:161306894 [GRCh38]
Chr1:161276684 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.40C>T (p.Leu14=) single nucleotide variant not provided [RCV003409204] Chr1:161309866 [GRCh38]
Chr1:161279656 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.265_270del (p.Ile89_Asp90del) deletion Roussy-Lévy syndrome [RCV003448933] Chr1:161306886..161306891 [GRCh38]
Chr1:161276676..161276681 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.479C>G (p.Ala160Gly) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV003882104] Chr1:161306434 [GRCh38]
Chr1:161276224 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.418T>C (p.Ser140Pro) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV003827597] Chr1:161306738 [GRCh38]
Chr1:161276528 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.413A>C (p.Lys138Thr) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV003876738] Chr1:161306743 [GRCh38]
Chr1:161276533 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.648G>C (p.Thr216=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV003581472] Chr1:161305975 [GRCh38]
Chr1:161275765 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.234+14G>A single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV003741667] Chr1:161307244 [GRCh38]
Chr1:161277034 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.182A>T (p.Asp61Val) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV003582775] Chr1:161307310 [GRCh38]
Chr1:161277100 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.472C>T (p.Leu158=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV003741800] Chr1:161306441 [GRCh38]
Chr1:161276231 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.145C>A (p.His49Asn) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV003741906] Chr1:161307347 [GRCh38]
Chr1:161277137 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.552A>G (p.Leu184=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV003742005] Chr1:161306361 [GRCh38]
Chr1:161276151 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.714G>C (p.Lys238Asn) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV003740671] Chr1:161305909 [GRCh38]
Chr1:161275699 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.415_417del (p.Thr139del) deletion Charcot-Marie-Tooth disease, type I [RCV003742058] Chr1:161306739..161306741 [GRCh38]
Chr1:161276529..161276531 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.618A>T (p.Gly206=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV003742061] Chr1:161306135 [GRCh38]
Chr1:161275925 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.13G>T (p.Ala5Ser) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV003740895] Chr1:161309893 [GRCh38]
Chr1:161279683 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.234+12G>A single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV003740764] Chr1:161307246 [GRCh38]
Chr1:161277036 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.646A>G (p.Thr216Ala) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV003740783] Chr1:161305977 [GRCh38]
Chr1:161275767 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.508_511del (p.Leu170fs) deletion Charcot-Marie-Tooth disease, type I [RCV003740795] Chr1:161306402..161306405 [GRCh38]
Chr1:161276192..161276195 [GRCh37]
Chr1:1q23.3
pathogenic
NM_000530.8(MPZ):c.67G>A (p.Val23Met) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV003742168] Chr1:161309839 [GRCh38]
Chr1:161279629 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.585-8T>A single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV003740963] Chr1:161306176 [GRCh38]
Chr1:161275966 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.370A>T (p.Thr124Ser) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV003582315] Chr1:161306786 [GRCh38]
Chr1:161276576 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.341T>A (p.Ile114Lys) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV003582322] Chr1:161306815 [GRCh38]
Chr1:161276605 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.75C>T (p.Ser25=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV003581146] Chr1:161307417 [GRCh38]
Chr1:161277207 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.529T>C (p.Tyr177His) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV003742398] Chr1:161306384 [GRCh38]
Chr1:161276174 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.489G>A (p.Gly163=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV003742453] Chr1:161306424 [GRCh38]
Chr1:161276214 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.90C>T (p.Ile30=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV003581280] Chr1:161307402 [GRCh38]
Chr1:161277192 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.105C>A (p.Asp35Glu) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV003741364] Chr1:161307387 [GRCh38]
Chr1:161277177 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.474G>C (p.Leu158=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV003742559] Chr1:161306439 [GRCh38]
Chr1:161276229 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.506_507delinsAC (p.Val169Asp) indel Charcot-Marie-Tooth disease, type I [RCV003740796] Chr1:161306406..161306407 [GRCh38]
Chr1:161276196..161276197 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.68-11T>C single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV003741078] Chr1:161307435 [GRCh38]
Chr1:161277225 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.68-3C>T single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV003582451] Chr1:161307427 [GRCh38]
Chr1:161277217 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.575G>A (p.Arg192Lys) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV003582982] Chr1:161306338 [GRCh38]
Chr1:161276128 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.283T>C (p.Phe95Leu) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV003741831] Chr1:161306873 [GRCh38]
Chr1:161276663 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.606G>A (p.Leu202=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV003582574] Chr1:161306147 [GRCh38]
Chr1:161275937 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.159G>T (p.Trp53Cys) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV003741946] Chr1:161307333 [GRCh38]
Chr1:161277123 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.26G>A (p.Ser9Asn) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV003741423] Chr1:161309880 [GRCh38]
Chr1:161279670 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.585-15T>C single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV003740912] Chr1:161306183 [GRCh38]
Chr1:161275973 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.323A>G (p.Lys108Arg) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV003741630] Chr1:161306833 [GRCh38]
Chr1:161276623 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.614C>T (p.Pro205Leu) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV003742155] Chr1:161306139 [GRCh38]
Chr1:161275929 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.18C>T (p.Pro6=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV003742151] Chr1:161309888 [GRCh38]
Chr1:161279678 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.577A>C (p.Arg193=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV003581515] Chr1:161306336 [GRCh38]
Chr1:161276126 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.646-12C>A single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV003582332] Chr1:161305989 [GRCh38]
Chr1:161275779 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.584+16dup duplication Charcot-Marie-Tooth disease, type I [RCV003741953] Chr1:161306312..161306313 [GRCh38]
Chr1:161276102..161276103 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.142C>T (p.Leu48=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV003740935] Chr1:161307350 [GRCh38]
Chr1:161277140 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.448+19A>G single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV003741502] Chr1:161306689 [GRCh38]
Chr1:161276479 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.599G>A (p.Gly200Glu) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV003742227] Chr1:161306154 [GRCh38]
Chr1:161275944 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.215G>C (p.Gly72Ala) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV003741015] Chr1:161307277 [GRCh38]
Chr1:161277067 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.424G>A (p.Val142Ile) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV003741779] Chr1:161306732 [GRCh38]
Chr1:161276522 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.196T>G (p.Trp66Gly) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV003582083] Chr1:161307296 [GRCh38]
Chr1:161277086 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.449-14C>T single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV003741628] Chr1:161306478 [GRCh38]
Chr1:161276268 [GRCh37]
Chr1:1q23.3
likely benign
NM_000530.8(MPZ):c.128G>C (p.Gly43Ala) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV003741702] Chr1:161307364 [GRCh38]
Chr1:161277154 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.250A>G (p.Lys84Glu) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV003582426] Chr1:161306906 [GRCh38]
Chr1:161276696 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.369C>T (p.Gly123=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV003582031] Chr1:161306787 [GRCh38]
Chr1:161276577 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_000530.8(MPZ):c.282C>T (p.Thr94=) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV003741515] Chr1:161306874 [GRCh38]
Chr1:161276664 [GRCh37]
Chr1:1q23.3
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4512
Count of miRNA genes:774
Interacting mature miRNAs:913
Transcripts:ENST00000336559, ENST00000360451, ENST00000463290, ENST00000476410, ENST00000488271, ENST00000491222, ENST00000526189, ENST00000533357
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
AL009353  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371161,276,922 - 161,277,095UniSTSGRCh37
Build 361159,543,546 - 159,543,719RGDNCBI36
Celera1134,344,063 - 134,344,236RGD
Cytogenetic Map1q23.3UniSTS
HuRef1132,633,792 - 132,633,965UniSTS
GDB:453314  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371161,276,686 - 161,277,198UniSTSGRCh37
Build 361159,543,310 - 159,543,822RGDNCBI36
Celera1134,343,827 - 134,344,339RGD
Cytogenetic Map1q23.3UniSTS
HuRef1132,633,556 - 132,634,068UniSTS
GDB:453316  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371161,275,698 - 161,276,706UniSTSGRCh37
Build 361159,542,322 - 159,543,330RGDNCBI36
Celera1134,342,839 - 134,343,847RGD
Cytogenetic Map1q23.3UniSTS
HuRef1132,632,568 - 132,633,576UniSTS
GDB:567202  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371161,279,593 - 161,279,765UniSTSGRCh37
Build 361159,546,217 - 159,546,389RGDNCBI36
Celera1134,346,734 - 134,346,906RGD
Cytogenetic Map1q23.3UniSTS
HuRef1132,636,432 - 132,636,604UniSTS
GDB:567206  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371161,276,967 - 161,277,275UniSTSGRCh37
Build 361159,543,591 - 159,543,899RGDNCBI36
Celera1134,344,108 - 134,344,416RGD
Cytogenetic Map1q23.3UniSTS
HuRef1132,633,837 - 132,634,145UniSTS
GDB:567212  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371161,276,042 - 161,276,351UniSTSGRCh37
Build 361159,542,666 - 159,542,975RGDNCBI36
Celera1134,343,183 - 134,343,492RGD
Cytogenetic Map1q23.3UniSTS
HuRef1132,632,912 - 132,633,221UniSTS
GDB:567216  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371161,275,784 - 161,276,030UniSTSGRCh37
Build 361159,542,408 - 159,542,654RGDNCBI36
Celera1134,342,925 - 134,343,171RGD
Cytogenetic Map1q23.3UniSTS
HuRef1132,632,654 - 132,632,900UniSTS
GDB:567273  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371161,275,582 - 161,275,804UniSTSGRCh37
Build 361159,542,206 - 159,542,428RGDNCBI36
Celera1134,342,723 - 134,342,945RGD
Cytogenetic Map1q23.3UniSTS
HuRef1132,632,452 - 132,632,674UniSTS
G15925  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371161,275,179 - 161,275,427UniSTSGRCh37
Build 361159,541,803 - 159,542,051RGDNCBI36
Celera1134,342,320 - 134,342,568RGD
Cytogenetic Map1q23.3UniSTS
HuRef1132,632,049 - 132,632,297UniSTS
MPZ_930  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371161,274,495 - 161,275,358UniSTSGRCh37
Build 361159,541,119 - 159,541,982RGDNCBI36
Celera1134,341,636 - 134,342,499RGD
HuRef1132,631,365 - 132,632,228UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 2 610 2 603 1 3 600
Medium 1598 771 391 136 397 63 1183 940 312 31 366 220 74 381 530
Low 769 2210 1311 472 1533 384 2510 1186 2782 358 1014 1315 98 1 820 1611 3 2
Below cutoff 58 8 20 15 19 17 51 64 30 29 64 61 2 47 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001315491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC243898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH000841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH000848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL592295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF509916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM663255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT006765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD172418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD515400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD515605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D10537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D14720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB210759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S66705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z31718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000463290   ⟹   ENSP00000431538
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,304,735 - 161,309,954 (-)Ensembl
RefSeq Acc Id: ENST00000476410
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,305,335 - 161,306,372 (-)Ensembl
RefSeq Acc Id: ENST00000488271
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,305,695 - 161,306,190 (-)Ensembl
RefSeq Acc Id: ENST00000491222   ⟹   ENSP00000431441
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,304,779 - 161,307,471 (-)Ensembl
RefSeq Acc Id: ENST00000526189   ⟹   ENSP00000488104
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,305,329 - 161,309,968 (-)Ensembl
RefSeq Acc Id: ENST00000533357   ⟹   ENSP00000432943
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,304,735 - 161,309,968 (-)Ensembl
RefSeq Acc Id: ENST00000672287   ⟹   ENSP00000499818
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,304,779 - 161,307,471 (-)Ensembl
RefSeq Acc Id: ENST00000672602   ⟹   ENSP00000500814
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,304,735 - 161,309,968 (-)Ensembl
RefSeq Acc Id: ENST00000674861
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,304,735 - 161,309,968 (-)Ensembl
RefSeq Acc Id: NM_000530   ⟹   NP_000521
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,304,735 - 161,309,968 (-)NCBI
GRCh371161,274,525 - 161,279,762 (-)ENTREZGENE
Build 361159,541,151 - 159,546,377 (-)NCBI Archive
HuRef1132,631,395 - 132,636,601 (-)ENTREZGENE
CHM1_11162,670,753 - 162,675,990 (-)NCBI
T2T-CHM13v2.01160,442,139 - 160,447,413 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001315491   ⟹   NP_001302420
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,304,735 - 161,309,968 (-)NCBI
CHM1_11162,670,753 - 162,675,990 (-)NCBI
T2T-CHM13v2.01160,442,139 - 160,447,413 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017001321   ⟹   XP_016856810
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,303,600 - 161,309,968 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054336676   ⟹   XP_054192651
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01160,441,004 - 160,447,413 (-)NCBI
RefSeq Acc Id: NP_000521   ⟸   NM_000530
- Peptide Label: isoform MPZ precursor
- UniProtKB: Q92677 (UniProtKB/Swiss-Prot),   Q5VTH4 (UniProtKB/Swiss-Prot),   Q16072 (UniProtKB/Swiss-Prot),   Q9BR67 (UniProtKB/Swiss-Prot),   P25189 (UniProtKB/Swiss-Prot),   A0A0J9YWT2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001302420   ⟸   NM_001315491
- Peptide Label: isoform L-MPZ precursor
- UniProtKB: A0A5F9ZI26 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016856810   ⟸   XM_017001321
- Peptide Label: isoform X1
- UniProtKB: Q14902 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000431538   ⟸   ENST00000463290
RefSeq Acc Id: ENSP00000431441   ⟸   ENST00000491222
RefSeq Acc Id: ENSP00000432943   ⟸   ENST00000533357
RefSeq Acc Id: ENSP00000488104   ⟸   ENST00000526189
RefSeq Acc Id: ENSP00000499818   ⟸   ENST00000672287
RefSeq Acc Id: ENSP00000500814   ⟸   ENST00000672602
RefSeq Acc Id: XP_054192651   ⟸   XM_054336676
- Peptide Label: isoform X1
- UniProtKB: Q14902 (UniProtKB/TrEMBL)
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P25189-F1-model_v2 AlphaFold P25189 1-248 view protein structure

Promoters
RGD ID:6786057
Promoter ID:HG_KWN:5851
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000082989,   OTTHUMT00000082990
Position:
Human AssemblyChrPosition (strand)Source
Build 361159,542,474 - 159,542,974 (-)MPROMDB
RGD ID:6786059
Promoter ID:HG_KWN:5852
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid,   NB4
Transcripts:UC001GAE.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361159,543,601 - 159,544,101 (-)MPROMDB
RGD ID:6857886
Promoter ID:EPDNEW_H2108
Type:multiple initiation site
Name:MPZ_1
Description:myelin protein zero
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,309,968 - 161,310,028EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7225 AgrOrtholog
COSMIC MPZ COSMIC
Ensembl Genes ENSG00000158887 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000463290.5 UniProtKB/Swiss-Prot
  ENST00000491222.5 UniProtKB/TrEMBL
  ENST00000526189.3 UniProtKB/TrEMBL
  ENST00000533357 ENTREZGENE
  ENST00000533357.5 UniProtKB/Swiss-Prot
  ENST00000672287.2 UniProtKB/TrEMBL
  ENST00000672602 ENTREZGENE
  ENST00000672602.2 UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000158887 GTEx
HGNC ID HGNC:7225 ENTREZGENE
Human Proteome Map MPZ Human Proteome Map
InterPro Ig-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_sub UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_V-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Myelin-PO_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Myelin_P0-rel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Myelin_P0_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Myelin_P0_Ig-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4359 UniProtKB/Swiss-Prot
NCBI Gene 4359 ENTREZGENE
OMIM 159440 OMIM
PANTHER PTHR13869 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR13869:SF7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Myelin-PO_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  V-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30930 PharmGKB
PRINTS MYELINP0 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE IG_LIKE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MYELIN_P0 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART IGv UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00409 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48726 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0J9YWT2 ENTREZGENE, UniProtKB/TrEMBL
  A0A5F9ZI26 ENTREZGENE, UniProtKB/TrEMBL
  E9PL80_HUMAN UniProtKB/TrEMBL
  MYP0_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q14902 ENTREZGENE, UniProtKB/TrEMBL
  Q16072 ENTREZGENE
  Q5VTH4 ENTREZGENE
  Q92677 ENTREZGENE
  Q9BR67 ENTREZGENE
UniProt Secondary Q16072 UniProtKB/Swiss-Prot
  Q5VTH4 UniProtKB/Swiss-Prot
  Q92677 UniProtKB/Swiss-Prot
  Q9BR67 UniProtKB/Swiss-Prot