Links from MedGen
Items: 2
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr1:12064570
- GRCh38:
- Chr1:12004513
| MFN2 | S431L | not provided, Charcot-Marie-Tooth disease type 2 | Uncertain significance
(Aug 31, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:12069698
- GRCh38:
- Chr1:12009641
| MFN2 | R707W | Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;, MFN2-Related Disorders, Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;,
Charcot-Marie-Tooth disease type 2A2, MFN2-related condition, Neuropathy, hereditary motor and sensory, type 6A,
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;, Charcot-Marie-Tooth disease type 2A2, Neuropathy, hereditary motor and sensory, type 6A,
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth diseaseInborn genetic diseases,
not provided, Charcot-Marie-Tooth disease type 2A2, Peripheral axonal neuropathy,
...see more | Pathogenic/Likely pathogenic
(Apr 19, 2023) | criteria provided, multiple submitters, no conflicts |