Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913595
rs121913595
MPZ
0.760 GeneticVariation BEFREE Charcot-Marie-Tooth families in Japan with MPZ Thr124Met mutation. 15377707

2004

dbSNP: rs121913595
rs121913595
MPZ
0.760 GeneticVariation BEFREE We report on a Japanese family with Charcot Marie Tooth disease (CMT) with the Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene. 12911457

2003

dbSNP: rs121913595
rs121913595
MPZ
0.760 GeneticVariation BEFREE We studied nerve conduction values, postural adaptation, sympathetic skin reflex, the variation in heart rate by the Valsalva ratio and pupillometry in 7 members of a French family in which CMT due to a Thr124Met mutation in the myelin protein zero (MPZ) gene was diagnosed. 12948789

2003

dbSNP: rs121913595
rs121913595
MPZ
0.760 GeneticVariation BEFREE 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: rs121913595
rs121913595
MPZ
0.760 GeneticVariation BEFREE 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). 11080237

2000

dbSNP: rs121913595
rs121913595
MPZ
0.760 GeneticVariation BEFREE We observed a missense mutation in the peripheral myelin protein zero gene (MPZ, Thr124Met) in seven Charcot-Marie-Tooth (CMT) families and in two isolated CMT patients of Belgian ancestry. 10071056

1999

dbSNP: rs121913595
rs121913595
MPZ
A 0.760 CausalMutation CLINVAR

dbSNP: rs121913597
rs121913597
MPZ
0.710 GeneticVariation BEFREE 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). 11080237

2000

dbSNP: rs121913597
rs121913597
MPZ
A 0.710 CausalMutation CLINVAR

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: 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: rs760730366
rs760730366
MPZ
A 0.700 CausalMutation CLINVAR The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy. 25614874

2014

dbSNP: rs863225026
rs863225026
MPZ
T 0.700 CausalMutation CLINVAR The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy. 25614874

2014

dbSNP: rs281865128
rs281865128
MPZ
0.020 GeneticVariation BEFREE Sixty-three members of a large CMT 1B kindred were assessed for signs of peripheral neuropathy and cranial neuropathies then tested for the G163R mutation in the myelin protein zero (MPZ) gene. 30920665

2019

dbSNP: rs1553259760
rs1553259760
MPZ
0.020 GeneticVariation BEFREE Histopathology of the Inner Ear in Charcot-Marie-Tooth Syndrome Caused by a Missense Variant (p.Thr65Ala) in the MPZ Gene. 30677751

2018

dbSNP: rs1553259760
rs1553259760
MPZ
0.020 GeneticVariation BEFREE A novel mutation, Thr65Ala, in the MPZ gene in a patient with Charcot-Marie-Tooth type 1B disease with focally folded myelin. 15036333

2004

dbSNP: rs281865128
rs281865128
MPZ
0.020 GeneticVariation BEFREE All families showed segregation of the mutations with the Charcot-Marie-Tooth phenotype as did a new family with the rare G163R mutation in the membrane domain. 12207932

2002

dbSNP: rs1553259662
rs1553259662
MPZ
0.010 GeneticVariation BEFREE Conduction block and tonic pupils in Charcot-Marie-Tooth disease caused by a myelin protein zero p.Ile112Thr mutation. 21256749

2011

dbSNP: rs202176679
rs202176679
MPZ
0.010 GeneticVariation BEFREE Eight of the mutations (L48Q, T65N, E97fs, G103W, P132T, T143R, V146G, c.645+1G>T) seem to be pathogenic on the basis of perfect segregation with the CMT phenotype and two (G213R and D246N), on the contrary, seem to be non-pathogenic/rare polymorphisms because they are present in healthy relatives. 20456450

2010

dbSNP: rs121913608
rs121913608
MPZ
0.010 GeneticVariation BEFREE The novel MPZ mutation, c.367G>A, is associated with a late-onset demyelinating CMT phenotype with autosomal dominant inheritance. 18209201

2008

dbSNP: rs121913599
rs121913599
MPZ
0.010 GeneticVariation BEFREE Focally folded myelin in Charcot-Marie-Tooth type 1B disease is associated with Asn131Lys mutation in myelin protein zero gene: short report. 12940837

2003

dbSNP: rs121913603
rs121913603
MPZ
0.010 GeneticVariation BEFREE Charcot-Marie-Tooth disease: a novel Tyr145Ser mutation in the myelin protein zero (MPZ, P0) gene causes different phenotypes in homozygous and heterozygous carriers within one family. 12845552

2003

dbSNP: rs121913602
rs121913602
MPZ
0.010 GeneticVariation BEFREE We previously reported familial cases characterized by Charcot-Marie-Tooth disease (CMT) phenotype with abnormal myelin foldings and MPZ Ile62Phe mutation. 11935267

2002

dbSNP: rs572010627
rs572010627
MPZ
0.010 GeneticVariation BEFREE The S140T mutation in myelin P0 can be associated with conduction block and Charcot-Marie-Tooth should be part of the differential diagnosis of that phenomenon. 12207932

2002

dbSNP: rs879254038
rs879254038
MPZ
0.010 GeneticVariation BEFREE 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