Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs119103263
rs119103263
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
T 0.800 CausalMutation CLINVAR

dbSNP: rs119103263
rs119103263
CUI: C0427065
Disease: Distal muscle weakness
Distal muscle weakness
T 0.700 CausalMutation CLINVAR

dbSNP: rs119103263
rs119103263
CUI: C3806301
Disease: Scarring alopecia of scalp
Scarring alopecia of scalp
T 0.700 CausalMutation CLINVAR

dbSNP: rs119103263
rs119103263
CUI: C0349588
Disease: Short stature
Short stature
T 0.700 CausalMutation CLINVAR

dbSNP: rs119103263
rs119103263
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
T 0.700 CausalMutation CLINVAR

dbSNP: rs119103263
rs119103263
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
CUI: C4021800
Disease: Abnormality of dental enamel
Abnormality of dental enamel
T 0.700 CausalMutation CLINVAR

dbSNP: rs119103263
rs119103263
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
CUI: C0221260
Disease: Dystrophia unguium
Dystrophia unguium
T 0.700 CausalMutation CLINVAR

dbSNP: rs119103263
rs119103263
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal
T 0.700 CausalMutation CLINVAR

dbSNP: rs119103263
rs119103263
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin
T 0.700 CausalMutation CLINVAR

dbSNP: rs119103263
rs119103263
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
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
T 0.700 CausalMutation CLINVAR

dbSNP: rs119103263
rs119103263
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition
T 0.700 CausalMutation CLINVAR

dbSNP: rs119103263
rs119103263
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
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2A
T 0.700 CausalMutation CLINVAR

dbSNP: rs119103263
rs119103263
CUI: C0574769
Disease: Loss of scalp hair
Loss of scalp hair
T 0.700 CausalMutation CLINVAR

dbSNP: rs119103263
rs119103263
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
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
CUI: C0008767
Disease: Cicatrization
Cicatrization
T 0.700 CausalMutation CLINVAR

dbSNP: rs119103263
rs119103263
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation
T 0.700 CausalMutation CLINVAR

dbSNP: rs119103263
rs119103263
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile
T 0.700 CausalMutation CLINVAR

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

2014