| | | Duplication (frameshift variant) | Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy | |
| | LOC126806913, OPA1 (E437Q +9 more) | Single nucleotide variant (missense variant) | Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy +1 more | |
| | | Single nucleotide variant (missense variant) | 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 | |
| | | Deletion (frameshift variant) | OPA1-related condition | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy | |
| | | Deletion (frameshift variant) | OPA1-related condition +4 more | |
| | | Single nucleotide variant (splice donor variant +1 more) | Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Abortive cerebellar ataxia +6 more | |
| | OPA1, OPA1-AS1 (S200F +5 more) | Single nucleotide variant (missense variant) | not provided +5 more | GConflicting classifications of pathogenicity |
| | LOC126806913, OPA1 (C551Y +9 more) | Single nucleotide variant (missense variant) | Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy | |
| | | Deletion (inframe_deletion +1 more) | not specified +12 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy | |
| | | Single nucleotide variant (intron variant) | not provided +5 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +5 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) +5 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +5 more | |
| | | Single nucleotide variant (missense variant) | Abortive cerebellar ataxia +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | LOC126806913, OPA1 (S545R +9 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Mitochondrial disease +1 more | |
| | | Deletion (frameshift variant) | Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy +1 more | |
| | | Single nucleotide variant (missense variant) | OPA1-Related Disorders +2 more | |
| | | Single nucleotide variant (missense variant) | 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 |
| | | Deletion (splice acceptor variant) | OPA1-related condition +8 more | GPathogenic/Likely pathogenic |