Gene: MPZ ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797044845
rs797044845
MPZ
T 0.710 CausalMutation CLINVAR The p.Asp61Asn mutation is novel in congenital hypomyelinating neuropathy, but was previously reported in a patient with Charcot-Marie-Tooth disease type 1. 23290023

2013
dbSNP: rs797044845
rs797044845
MPZ
T 0.710 CausalMutation CLINVAR Gain of glycosylation: a new pathomechanism of myelin protein zero mutations. 22451207

2012
dbSNP: rs797044845
rs797044845
MPZ
T 0.710 CausalMutation CLINVAR Abstracts of the 6th Meeting of the Italian Peripheral Nerve Study Group. Sondrio, 5-7 April 2001. 11484669

2001
dbSNP: rs797044845
rs797044845
MPZ
T 0.710 CausalMutation CLINVAR "Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible ""hotspot"" on Thr124Met." 10764043

2000
dbSNP: rs281865127
rs281865127
MPZ
C 0.700 CausalMutation CLINVAR Dejerine-Sottas disease in childhood-Genetic and sonographic heterogeneity. 29670817

2018
dbSNP: rs121913598
rs121913598
MPZ
A 0.700 CausalMutation CLINVAR Palmoplantar keratoderma and Charcot-Marie-Tooth disease: combination of two independent genetic diseases? Identification of two point mutations in the MPZ and KRT1 genes by whole-exome sequencing. 27639257

2017
dbSNP: rs267607247
rs267607247
MPZ
A 0.700 CausalMutation CLINVAR Underestimated associated features in CMT neuropathies: clinical indicators for the causative gene? 27088055

2016
dbSNP: rs281865128
rs281865128
MPZ
G 0.700 CausalMutation CLINVAR Underestimated associated features in CMT neuropathies: clinical indicators for the causative gene? 27088055

2016
dbSNP: rs121913584
rs121913584
MPZ
T 0.700 CausalMutation CLINVAR Complexity of the Hereditary Motor and Sensory Neuropathies: Clinical and Cellular Characterization of the MPZ p.D90E Mutation. 25694466

2015
dbSNP: rs121913595
rs121913595
MPZ
A 0.700 CausalMutation CLINVAR Parasympathetic Dominant Autonomic Dysfunction in Charcot-Marie-Tooth Disease Type 2J with the MPZ Thr124Met Mutation. 26234237

2015
dbSNP: rs121913598
rs121913598
MPZ
A 0.700 CausalMutation CLINVAR Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene. 26310628

2015
dbSNP: rs1553259648
rs1553259648
MPZ
C 0.700 GeneticVariation CLINVAR Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene. 26310628

2015
dbSNP: rs1553259648
rs1553259648
MPZ
T 0.700 CausalMutation CLINVAR Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene. 26310628

2015
dbSNP: rs1553259663
rs1553259663
MPZ
C 0.700 GeneticVariation CLINVAR Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene. 26310628

2015
dbSNP: rs1553259707
rs1553259707
MPZ
C 0.700 CausalMutation CLINVAR Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene. 26310628

2015
dbSNP: rs281865127
rs281865127
MPZ
C 0.700 CausalMutation CLINVAR Clinical and genetic spectra in a series of Chinese patients with Charcot-Marie-Tooth disease. 26454100

2015
dbSNP: rs371856018
rs371856018
MPZ
G 0.700 CausalMutation CLINVAR Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene. 26310628

2015
dbSNP: rs572010627
rs572010627
MPZ
T 0.700 CausalMutation CLINVAR Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene. 26310628

2015
dbSNP: rs770546306
rs770546306
MPZ
C 0.700 CausalMutation CLINVAR Clinical and genetic spectra in a series of Chinese patients with Charcot-Marie-Tooth disease. 26454100

2015
dbSNP: rs864622732
rs864622732
MPZ
A 0.700 CausalMutation CLINVAR Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene. 26310628

2015
dbSNP: rs879254038
rs879254038
MPZ
C 0.700 GeneticVariation CLINVAR Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene. 26310628

2015
dbSNP: rs1553259643
rs1553259643
MPZ
G 0.700 CausalMutation CLINVAR The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy. 25614874

2014
dbSNP: rs1553259663
rs1553259663
MPZ
C 0.700 GeneticVariation CLINVAR Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population. 25429913

2014
dbSNP: rs1553259703
rs1553259703
MPZ
A 0.700 CausalMutation CLINVAR The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy. 25614874

2014
dbSNP: rs1553259707
rs1553259707
MPZ
C 0.700 CausalMutation CLINVAR Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population. 25429913

2014