ClinVar Miner

Variants in gene MPZ

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Minimum submission review status: Collection method:
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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
118 69 309 48 23 2 452

Condition and significance breakdown #

Total conditions: 28
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Charcot-Marie-Tooth disease, type I 63 29 104 19 4 0 219
Charcot-Marie-Tooth disease 20 9 164 7 2 0 194
not provided 32 28 27 15 6 0 102
Charcot-Marie-Tooth disease, demyelinating, type 1b 45 2 17 5 9 1 78
Roussy-Lévy syndrome 1 3 20 2 13 0 39
Charcot-Marie-Tooth disease dominant intermediate d 3 1 19 2 12 0 37
Congenital hypomyelinating neuropathy 2 3 0 24 5 2 0 34
Congenital hypomyelinating neuropathy 1, autosomal recessive 1 0 9 8 4 0 22
not specified 1 1 9 9 4 0 22
Dejerine-Sottas disease 2 0 15 0 0 0 16
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
none provided 1 0 2 1 1 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
Hereditary 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
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: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 63 29 102 25 3 0 222
Inherited Neuropathy Consortium 11 2 158 0 1 0 172
GeneDx 15 15 11 9 7 0 57
Athena Diagnostics Inc 21 6 11 1 5 0 44
Molecular Genetics Laboratory,London Health Sciences Centre 7 9 20 7 1 0 44
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 4 0 0 24
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 2 1 3 1 1 0 8
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 2 3 0 0 0 6
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 4 2 0 0 0 6
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 4 0 0 0 0 6
Genesis Genome Database 0 0 5 0 0 0 5
Baylor Genetics 2 0 2 0 0 0 4
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
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
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
Department of Pathology and Laboratory Medicine,Sinai Health System 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
CMT Laboratory,Bogazici University 0 0 1 0 0 0 1

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