rs119103263
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Hereditary motor and sensory neuropathy with optic atrophy (disorder)
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T |
0.800 |
CausalMutation
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CLINVAR |
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rs119103263
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Distal muscle weakness
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T |
0.700 |
CausalMutation
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CLINVAR |
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rs119103263
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Scarring alopecia of scalp
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T |
0.700 |
CausalMutation
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CLINVAR |
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rs119103263
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Short stature
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T |
0.700 |
CausalMutation
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CLINVAR |
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rs119103263
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Microcephaly (physical finding)
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T |
0.700 |
CausalMutation
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CLINVAR |
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rs119103263
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Abnormality of dental enamel
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T |
0.700 |
CausalMutation
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CLINVAR |
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rs119103263
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Dystrophia unguium
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T |
0.700 |
CausalMutation
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CLINVAR |
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rs119103263
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Electromyogram abnormal
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T |
0.700 |
CausalMutation
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CLINVAR |
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rs119103263
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Abnormal blistering of the skin
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T |
0.700 |
CausalMutation
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CLINVAR |
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rs119103263
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Pediatric failure to thrive
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T |
0.700 |
CausalMutation
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CLINVAR |
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rs119103263
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Abnormality of the dentition
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T |
0.700 |
CausalMutation
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CLINVAR |
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rs119103263
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CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2A
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T |
0.700 |
CausalMutation
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CLINVAR |
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rs119103263
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Loss of scalp hair
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T |
0.700 |
CausalMutation
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CLINVAR |
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rs119103263
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Cicatrization
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T |
0.700 |
CausalMutation
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CLINVAR |
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rs119103263
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Hyperpigmentation
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T |
0.700 |
CausalMutation
|
CLINVAR |
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rs119103263
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Weight less than 3rd percentile
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T |
0.700 |
CausalMutation
|
CLINVAR |
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rs119103263
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Hereditary Motor and Sensory-Neuropathy Type II
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T |
0.700 |
CausalMutation
|
CLINVAR |
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.
|
15064763 |
2004 |
rs119103263
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Hereditary Motor and Sensory-Neuropathy Type II
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T |
0.700 |
CausalMutation
|
CLINVAR |
Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2.
|
16437557 |
2006 |
rs119103263
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Hereditary Motor and Sensory-Neuropathy Type II
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T |
0.700 |
CausalMutation
|
CLINVAR |
Phenotypic spectrum of MFN2 mutations in the Spanish population.
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19889647 |
2010 |
rs119103263
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Hereditary Motor and Sensory-Neuropathy Type II
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T |
0.700 |
CausalMutation
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CLINVAR |
Bioenergetic defect associated with mKATP channel opening in a mouse model carrying a mitofusin 2 mutation.
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21285398 |
2011 |
rs119103263
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Hereditary Motor and Sensory-Neuropathy Type II
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T |
0.700 |
CausalMutation
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CLINVAR |
Mitofusin2 mutations disrupt axonal mitochondrial positioning and promote axon degeneration.
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22442078 |
2012 |
rs119103263
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Hereditary Motor and Sensory-Neuropathy Type II
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T |
0.700 |
CausalMutation
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CLINVAR |
Spectrum and frequencies of mutations in the MFN2 gene and its phenotypical expression in Czech hereditary motor and sensory neuropathy type II patients.
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24126688 |
2013 |
rs119103263
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Hereditary Motor and Sensory-Neuropathy Type II
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T |
0.700 |
CausalMutation
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CLINVAR |
Characterization of the mitofusin 2 R94W mutation in a knock-in mouse model.
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24862862 |
2014 |
rs119103263
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Hereditary Motor and Sensory-Neuropathy Type II
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T |
0.700 |
CausalMutation
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CLINVAR |
Application of whole exome sequencing in undiagnosed inherited polyneuropathies.
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24604904 |
2014 |
rs119103263
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Hereditary Motor and Sensory-Neuropathy Type II
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T |
0.700 |
CausalMutation
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CLINVAR |
Improving diagnosis of inherited peripheral neuropathies through gene panel analysis.
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27549087 |
2016 |