| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | LOC126806913, OPA1 (S545R +9 more) | Single nucleotide variant (missense variant) | Autosomal dominant optic atrophy classic form +1 more | |
| | LOC126806913, OPA1 (R557del +9 more) | Deletion (inframe_deletion) | not provided | |
| | LOC126806913, OPA1 (R557* +9 more) | Single nucleotide variant (nonsense) | not provided | |
| | LOC126806913, OPA1 (Q438* +9 more) | Single nucleotide variant (nonsense) | not provided | |
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