Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs119103263
rs119103263
MFN2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		T 0.700 CausalMutation CLINVAR Improving diagnosis of inherited peripheral neuropathies through gene panel analysis. 27549087

2016
dbSNP: rs119103263
rs119103263
MFN2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		T 0.700 CausalMutation CLINVAR Clinical and allelic heterogeneity in a pediatric cohort of 11 patients carrying MFN2 mutation. 26686600

2016
dbSNP: rs119103263
rs119103263
MFN2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		T 0.700 CausalMutation CLINVAR Characterization of the mitofusin 2 R94W mutation in a knock-in mouse model. 24862862

2014
dbSNP: rs119103263
rs119103263
MFN2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		T 0.700 CausalMutation CLINVAR Application of whole exome sequencing in undiagnosed inherited polyneuropathies. 24604904

2014
dbSNP: rs119103263
rs119103263
MFN2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		T 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

2013
dbSNP: rs119103263
rs119103263
MFN2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		T 0.700 CausalMutation CLINVAR Mitofusin2 mutations disrupt axonal mitochondrial positioning and promote axon degeneration. 22442078

2012
dbSNP: rs119103263
rs119103263
MFN2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		T 0.700 CausalMutation CLINVAR Bioenergetic defect associated with mKATP channel opening in a mouse model carrying a mitofusin 2 mutation. 21285398

2011
dbSNP: rs119103263
rs119103263
MFN2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		T 0.700 CausalMutation CLINVAR Phenotypic spectrum of MFN2 mutations in the Spanish population. 19889647

2010
dbSNP: rs119103263
rs119103263
MFN2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		T 0.700 CausalMutation CLINVAR Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. 16437557

2006
dbSNP: rs119103263
rs119103263
MFN2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		T 0.700 CausalMutation CLINVAR Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. 15064763

2004