| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy | |
| | | Single nucleotide variant (missense variant) | Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | OPA1-Related Disorders +2 more | |
| | | Deletion (splice acceptor variant) | OPA1-related condition +8 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene