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
98 36 236 21 14 2 336

Condition and significance breakdown #

Total conditions: 26
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Charcot-Marie-Tooth disease 13 0 144 0 1 0 157
Charcot-Marie-Tooth disease, type I 40 12 62 15 5 0 133
not provided 24 21 17 1 7 0 67
Charcot-Marie-Tooth disease, demyelinating, type 1b 47 1 0 0 0 1 48
Congenital hypomyelinating neuropathy 1, autosomal recessive 1 0 9 8 4 0 22
Roussy-Lévy syndrome 1 0 9 8 4 0 22
Charcot-Marie-Tooth, Intermediate 0 0 9 8 4 0 21
not specified 0 0 8 9 4 0 19
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 3; 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 4 0 0 0 0 0 4
Charcot-Marie-Tooth disease type 2J 4 0 0 0 0 0 4
Charcot-Marie-Tooth disease dominant intermediate 3 2 1 0 0 0 0 3
Congenital hypomyelinating neuropathy 2 2 0 1 0 0 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
MPZ-Related Disorders 0 0 1 0 0 0 1
Neuropathy, congenital hypomyelinating, autosomal dominant 1 0 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: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Inherited Neuropathy Consortium 11 0 158 0 1 0 170
Invitae 40 12 53 8 2 0 115
GeneDx 15 13 11 9 7 0 55
OMIM 36 0 0 0 0 0 36
Athena Diagnostics Inc 19 5 7 0 5 0 36
GeneReviews 26 0 0 0 0 0 26
Illumina Clinical Services Laboratory,Illumina 0 0 10 8 4 0 22
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 2 3 0 0 0 6
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 4 0 0 0 5
Fulgent Genetics,Fulgent Genetics 2 1 1 0 0 0 4
Ambry Genetics 1 1 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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 2 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Baylor Miraca Genetics Laboratories, 1 0 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 0 0 1 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 0 1 0 1
PreventionGenetics 0 0 0 0 1 0 1
Institute of Human Genetics,Cologne University 1 0 0 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 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

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