| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC126806913, OPA1 (E437Q +9 more) | Single nucleotide variant (missense variant) | Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy +1 more | |
| | | Deletion (splice acceptor variant) | Autosomal dominant optic atrophy classic form +8 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene