| | | Single nucleotide variant (missense variant) | Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy +4 more | |
| | | Deletion (splice acceptor variant) | Autosomal dominant optic atrophy classic form | |
| | | Deletion (frameshift variant) | Autosomal dominant optic atrophy classic form | |
| | | Single nucleotide variant (splice donor variant) | Autosomal dominant optic atrophy classic form | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant optic atrophy classic form | |
| | | Single nucleotide variant (splice donor variant) | Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Autosomal dominant optic atrophy classic form +1 more | |
| | | Deletion (splice donor variant) | Autosomal dominant optic atrophy classic form +1 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Autosomal dominant optic atrophy classic form | |
| | | Single nucleotide variant (splice donor variant) | Autosomal dominant optic atrophy classic form | |
| | | Duplication (frameshift variant) | Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy +1 more | |
| | | Deletion (nonsense +1 more) | Autosomal dominant optic atrophy classic form | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant optic atrophy classic form | |
| | | Single nucleotide variant (splice donor variant) | Autosomal dominant optic atrophy classic form | |
| | | Copy number loss | Autosomal dominant optic atrophy classic form | |
| | | Single nucleotide variant (nonsense) | Autosomal dominant optic atrophy classic form +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant optic atrophy classic form +1 more | |
| | | Single nucleotide variant (nonsense) | Autosomal dominant optic atrophy classic form +1 more | |
| | | Deletion (frameshift variant) | Autosomal dominant optic atrophy classic form | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant optic atrophy classic form | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant optic atrophy classic form | |
| | | Duplication (nonsense) | Autosomal dominant optic atrophy classic form | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant optic atrophy classic form | |
| | | Duplication (5 prime UTR variant +1 more) | Autosomal dominant optic atrophy classic form | |
| | | Insertion (5 prime UTR variant +1 more) | Autosomal dominant optic atrophy classic form | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | Autosomal dominant optic atrophy classic form | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant optic atrophy classic form | |
| | | Single nucleotide variant (nonsense) | Autosomal dominant optic atrophy classic form | |
| | LOC126806913, OPA1 (Q439* +9 more) | Single nucleotide variant (nonsense) | Autosomal dominant optic atrophy classic form | |
| | | Indel (splice donor variant) | Autosomal dominant optic atrophy classic form | |
| | | Single nucleotide variant (nonsense) | Autosomal dominant optic atrophy classic form +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Autosomal dominant optic atrophy classic form | |
| | | Deletion (frameshift variant) | Autosomal dominant optic atrophy classic form | |
| | | Deletion (5 prime UTR variant +1 more) | Autosomal dominant optic atrophy classic form | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Autosomal dominant optic atrophy classic form | |
| | | Deletion (frameshift variant) | Autosomal dominant optic atrophy classic form | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant optic atrophy classic form | |
| | | Deletion (frameshift variant) | Autosomal dominant optic atrophy classic form | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant optic atrophy classic form | |
| | | Duplication (5 prime UTR variant +1 more) | Autosomal dominant optic atrophy classic form | |
| | | Deletion (inframe_deletion) | Autosomal dominant optic atrophy classic form +3 more | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant optic atrophy classic form | |
| | | Single nucleotide variant (nonsense) | Autosomal dominant optic atrophy classic form +1 more | |
| | | Duplication (frameshift variant) | Autosomal dominant optic atrophy classic form +1 more | |
| | | Deletion (frameshift variant) | OPA1-related disorder +4 more | |
| | | Single nucleotide variant (splice donor variant) | Autosomal dominant optic atrophy classic form +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal dominant optic atrophy classic form | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal dominant optic atrophy classic form | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal dominant optic atrophy classic form | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal dominant optic atrophy classic form | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Autosomal dominant optic atrophy classic form | |
| | | Single nucleotide variant (5 prime UTR variant) | Autosomal dominant optic atrophy classic form | |
| | | Single nucleotide variant | Autosomal dominant optic atrophy classic form | |
| | | Single nucleotide variant | Autosomal dominant optic atrophy classic form | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal dominant optic atrophy classic form | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal dominant optic atrophy classic form | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal dominant optic atrophy classic form | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal dominant optic atrophy classic form | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal dominant optic atrophy classic form | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant optic atrophy classic form +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant optic atrophy classic form | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal dominant optic atrophy classic form | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal dominant optic atrophy classic form | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal dominant optic atrophy classic form | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | OPA1, OPA1-AS1 (P206L +5 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Autosomal dominant optic atrophy classic form +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal dominant optic atrophy classic form | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal dominant optic atrophy classic form | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal dominant optic atrophy classic form | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal dominant optic atrophy classic form | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal dominant optic atrophy classic form | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal dominant optic atrophy classic form | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant optic atrophy classic form +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant optic atrophy classic form | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant optic atrophy classic form +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Autosomal dominant optic atrophy classic form | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant optic atrophy classic form | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant optic atrophy classic form | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant optic atrophy classic form +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant optic atrophy classic form +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Autosomal dominant optic atrophy classic form +1 more | |
| | | Deletion (frameshift variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +6 more | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant optic atrophy classic form +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant optic atrophy classic form +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant optic atrophy classic form +1 more | GConflicting classifications of pathogenicity |