| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | OPA1-related disorder +1 more | |
| | | Deletion (splice acceptor variant) | 3-Methylglutaconic aciduria type 3 +10 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene