Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs755065651
rs755065651
MFN2
A 0.700 CausalMutation CLINVAR Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience. 26989944

2016
dbSNP: rs755065651
rs755065651
MFN2
A 0.700 CausalMutation CLINVAR Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing. 25802885

2015
dbSNP: rs755065651
rs755065651
MFN2
A 0.700 CausalMutation CLINVAR Acute optic neuropathy associated with a novel MFN2 mutation. 25957633

2015
dbSNP: rs755065651
rs755065651
MFN2
A 0.700 CausalMutation CLINVAR A cohort study of MFN2 mutations and phenotypic spectrums in Charcot-Marie-Tooth disease 2A patients. 24863639

2015
dbSNP: rs755065651
rs755065651
MFN2
A 0.700 CausalMutation CLINVAR Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges. 24627108

2014
dbSNP: rs755065651
rs755065651
MFN2
A 0.700 CausalMutation CLINVAR Charcot-Marie-Tooth disease type 2A: from typical to rare phenotypic and genotypic features. 24957169

2014
dbSNP: rs755065651
rs755065651
MFN2
A 0.700 CausalMutation CLINVAR [MFN2 gene analysis in patients with hereditary motor and sensory neuropathy from Bashkortostan Republic]. 24450158

2013
dbSNP: rs755065651
rs755065651
MFN2
A 0.700 CausalMutation CLINVAR MFN2 mutations cause compensatory mitochondrial DNA proliferation. 22492563

2012
dbSNP: rs755065651
rs755065651
MFN2
A 0.700 CausalMutation CLINVAR A novel de novo MFN2 mutation causing CMT2A with upper motor neuron signs. 19350291

2009