Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs879254011
rs879254011
MFN2
C 0.700 CausalMutation CLINVAR Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected child. 28063088

2017
dbSNP: rs879254011
rs879254011
MFN2
C 0.700 CausalMutation CLINVAR Improving diagnosis of inherited peripheral neuropathies through gene panel analysis. 27549087

2016
dbSNP: rs879254011
rs879254011
MFN2
C 0.700 CausalMutation CLINVAR Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing. 25802885

2015
dbSNP: rs879254011
rs879254011
MFN2
C 0.700 CausalMutation CLINVAR Axonal Charcot-Marie-Tooth disease patient-derived motor neurons demonstrate disease-specific phenotypes including abnormal electrophysiological properties. 25448007

2015
dbSNP: rs879254011
rs879254011
MFN2
A 0.700 CausalMutation CLINVAR Charcot-Marie-Tooth disease type 2A: from typical to rare phenotypic and genotypic features. 24957169

2014
dbSNP: rs879254011
rs879254011
MFN2
C 0.700 CausalMutation CLINVAR Charcot-Marie-Tooth disease type 2A: from typical to rare phenotypic and genotypic features. 24957169

2014
dbSNP: rs879254011
rs879254011
MFN2
C 0.700 CausalMutation CLINVAR MFN2 mutations cause compensatory mitochondrial DNA proliferation. 22492563

2012
dbSNP: rs879254011
rs879254011
MFN2
A 0.700 CausalMutation CLINVAR MFN2 mutations cause compensatory mitochondrial DNA proliferation. 22492563

2012
dbSNP: rs879254011
rs879254011
MFN2
A 0.700 CausalMutation CLINVAR Structural and functional measures of inner retinal integrity following visual acuity improvement in a patient with hereditary motor and sensory neuropathy type VI. 21707411

2011
dbSNP: rs879254011
rs879254011
MFN2
C 0.700 CausalMutation CLINVAR The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan. 22206013

2011
dbSNP: rs879254011
rs879254011
MFN2
C 0.700 CausalMutation CLINVAR Structural and functional measures of inner retinal integrity following visual acuity improvement in a patient with hereditary motor and sensory neuropathy type VI. 21707411

2011
dbSNP: rs879254011
rs879254011
MFN2
C 0.700 CausalMutation CLINVAR MFN2 mutations cause severe phenotypes in most patients with CMT2A. 21508331

2011
dbSNP: rs879254011
rs879254011
MFN2
A 0.700 CausalMutation CLINVAR Phenotypic spectrum of MFN2 mutations in the Spanish population. 19889647

2010
dbSNP: rs879254011
rs879254011
MFN2
A 0.700 CausalMutation CLINVAR Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations. 20008656

2009
dbSNP: rs879254011
rs879254011
MFN2
C 0.700 CausalMutation CLINVAR Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations. 20008656

2009
dbSNP: rs879254011
rs879254011
MFN2
A 0.700 CausalMutation CLINVAR Two Spanish families with Charcot-Marie-Tooth type 2A: clinical, electrophysiological and molecular findings. 18996695

2008
dbSNP: rs879254011
rs879254011
MFN2
A 0.700 CausalMutation CLINVAR Mitochondrial coupling defect in Charcot-Marie-Tooth type 2A disease. 17444508

2007
dbSNP: rs879254011
rs879254011
MFN2
C 0.700 CausalMutation CLINVAR Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations. 16835246

2006
dbSNP: rs879254011
rs879254011
MFN2
C 0.700 CausalMutation CLINVAR Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. 16437557

2006
dbSNP: rs879254011
rs879254011
MFN2
A 0.700 CausalMutation CLINVAR Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. 16437557

2006