Variant Gene Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs119103263
rs119103263
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2 (disorder)
0.700 CausalMutation CLINVAR A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders. 26467025

2016

dbSNP: rs119103263
rs119103263
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2 (disorder)
0.700 CausalMutation CLINVAR Characterization of the mitofusin 2 R94W mutation in a knock-in mouse model. 24862862

2015

dbSNP: rs119103263
rs119103263
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2 (disorder)
0.700 CausalMutation CLINVAR Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing. 25025039

2015

dbSNP: rs119103263
rs119103263
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2 (disorder)
0.700 CausalMutation CLINVAR Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function. 23891399

2014

dbSNP: rs119103263
rs119103263
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2 (disorder)
0.700 CausalMutation CLINVAR Spectrum and frequencies of mutations in the MFN2 gene and its phenotypical expression in Czech hereditary motor and sensory neuropathy type II patients. 24126688

2014

dbSNP: rs119103263
rs119103263
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2 (disorder)
0.700 CausalMutation CLINVAR Phenotypic spectrum of MFN2 mutations in the Spanish population. 19889647

2010

dbSNP: rs119103263
rs119103263
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2 (disorder)
0.700 CausalMutation CLINVAR Complementation between mouse Mfn1 and Mfn2 protects mitochondrial fusion defects caused by CMT2A disease mutations. 17296794

2007

dbSNP: rs119103263
rs119103263
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2 (disorder)
0.700 CausalMutation CLINVAR MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. 16714318

2006

dbSNP: rs119103263
rs119103263
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2 (disorder)
0.700 CausalMutation CLINVAR Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations. 16835246

2006

dbSNP: rs119103263
rs119103263
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2 (disorder)
0.700 CausalMutation CLINVAR Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. 16437557

2006

dbSNP: rs119103263
rs119103263
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2 (disorder)
0.700 CausalMutation CLINVAR Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. 15064763

2004