ClinVar Miner

Variants in gene MPZ

See also:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
113 62 286 45 23 2 423

Condition and significance breakdown #

Total conditions: 35
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Charcot-Marie-Tooth disease 20 9 164 7 2 0 194
Charcot-Marie-Tooth disease, type I 56 25 80 11 4 0 176
not provided 31 25 24 14 6 0 95
Charcot-Marie-Tooth disease, demyelinating, type 1b 47 2 16 5 9 1 79
Charcot-Marie-Tooth disease dominant intermediate d 2 1 17 2 12 0 34
Roussy-Lévy syndrome 1 0 18 2 13 0 34
Congenital hypomyelinating neuropathy 2 2 0 24 5 2 0 33
not specified 2 1 9 9 4 0 23
Congenital hypomyelinating neuropathy 1, autosomal recessive 1 0 9 8 4 0 22
Dejerine-Sottas disease 2 0 14 0 0 0 15
Charcot-Marie-Tooth disease type 2I; Charcot-Marie-Tooth disease type 2J; Charcot-Marie-Tooth disease, demyelinating, type 1b; Charcot-Marie-Tooth disease dominant intermediate d; Roussy-Lévy syndrome; Dejerine-Sottas disease; Congenital hypomyelinating neuropathy 1, autosomal recessive 3 2 1 0 0 0 6
Charcot-Marie-Tooth disease type 2I 5 0 0 0 0 0 5
Charcot-Marie-Tooth disease type 2J 4 0 0 0 0 0 4
Charcot-Marie-Tooth, Intermediate 0 0 2 0 1 0 3
Charcot-Marie-Tooth disease type 2I; Charcot-Marie-Tooth disease type 2J; Charcot-Marie-Tooth disease, demyelinating, type 1b 0 0 0 0 2 0 2
Charcot-Marie-Tooth disease, type 1b, with focally folded myelin sheaths 2 0 0 0 0 0 2
Dejerine-Sottas syndrome, autosomal dominant 2 0 0 0 0 0 2
Inborn genetic diseases 1 1 0 0 0 0 2
Autosomal recessive Dejerine-Sottas syndrome 1 0 0 0 0 0 1
Charcot-Marie-Tooth disease type 2J; Charcot-Marie-Tooth disease, demyelinating, type 1b; Dejerine-Sottas disease; Congenital hypomyelinating neuropathy 0 0 0 0 0 1 1
Decreased nerve conduction velocity; Sensory neuropathy; Pes cavus; Distal muscle weakness; Distal lower limb amyotrophy 0 1 0 0 0 0 1
Dejerine-sottas syndrome, sporadic 1 0 0 0 0 0 1
Gait disturbance; EMG: neuropathic changes; Sensorimotor neuropathy 0 1 0 0 0 0 1
Genetic motor neuron disease 0 1 0 0 0 0 1
Intellectual disability 0 1 0 0 0 0 1
MPZ-Related Disorders 0 0 1 0 0 0 1
Myopathy 0 0 1 0 0 0 1
Neurodevelopmental disorder 0 0 1 0 0 0 1
Neuromuscular disorder 1 0 0 0 0 0 1
Neuropathy, congenital hypomyelinating, autosomal dominant 1 0 0 0 0 0 1
Pes cavus; Distal lower limb amyotrophy; Intrinsic hand muscle atrophy; Foot dorsiflexor weakness; EMG: slow motor conduction 0 1 0 0 0 0 1
Polyneuropathy 1 0 0 0 0 0 1
Polyneuropathy; Hyporeflexia of lower limbs 0 1 0 0 0 0 1
Sensorimotor neuropathy 0 1 0 0 0 0 1
Tremor; EMG: neuropathic changes; Limb muscle weakness 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 27
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 56 25 78 22 3 0 184
Inherited Neuropathy Consortium 11 2 158 0 1 0 172
GeneDx 15 15 11 9 7 0 57
Molecular Genetics Laboratory,London Health Sciences Centre 7 9 20 7 1 0 44
Athena Diagnostics Inc 20 5 9 1 5 0 40
OMIM 36 0 0 0 0 0 36
Illumina Clinical Services Laboratory,Illumina 0 0 26 11 13 0 34
GeneReviews 26 0 0 0 0 0 26
CeGaT Praxis fuer Humangenetik Tuebingen 9 2 9 3 0 0 23
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 4 2 0 0 0 7
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 2 3 0 0 0 6
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 1 1 0 1 0 5
Genesis Genome Database 0 0 5 0 0 0 5
Fulgent Genetics,Fulgent Genetics 2 1 1 0 0 0 4
Ambry Genetics 1 1 0 0 0 0 2
Institute of Human Genetics,Cologne University 1 0 1 0 0 0 2
Mendelics 1 1 0 0 0 0 2
Institute of Human Genetics,Klinikum rechts der Isar 2 0 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 1 1 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 1 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Baylor Genetics 1 0 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 0 0 1 0 0 1
PreventionGenetics,PreventionGenetics 0 0 0 0 1 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Genotek, Genotek Ltd. 0 1 0 0 0 0 1
Raymond Lab,University of Cambridge 0 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.