| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion | not provided | |
| | | Duplication | not provided | |
| | | Deletion | not provided | |
| | | Deletion | not provided | |
| | | Single nucleotide variant (splice donor variant) | Autosomal dominant optic atrophy classic form | |
| | OPA1, OPA1-AS1 (R158G +5 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | OPA1, OPA1-AS1 (R194G +4 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | OPA1, OPA1-AS1 (T36A +5 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | OPA1, OPA1-AS1 (Q234P +4 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LOC126806913, OPA1 (Q414R +9 more) | Single nucleotide variant (missense variant) | not provided | |
| | OPA1, OPA1-AS1 (A204P +4 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Duplication (frameshift variant) | Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy +1 more | |
| | OPA1, OPA1-AS1 (Q224* +4 more) | Single nucleotide variant (nonsense +1 more) | not provided | |
| | OPA1, OPA1-AS1 (Q182* +4 more) | Single nucleotide variant (nonsense +1 more) | not provided | |
| | OPA1, OPA1-AS1 (S238R +4 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | OPA1, OPA1-AS1 (G173C +4 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | OPA1, OPA1-AS1 (R194K +4 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | OPA1-related optic atrophy with or without extraocular features | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | OPA1, OPA1-AS1 (Q186E +4 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LOC126806913, OPA1 (R539Q +9 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC126806913, OPA1 (A584E +9 more) | Single nucleotide variant (missense variant) | not provided | |
| | OPA1, OPA1-AS1 (Q184del +4 more) | Microsatellite (inframe_deletion +1 more) | not provided | |
| | OPA1, OPA1-AS1 (R74H +5 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | OPA1, OPA1-AS1 (T237M +4 more) | Single nucleotide variant (missense variant +1 more) | not provided | GConflicting classifications of pathogenicity |
| | OPA1, OPA1-AS1 (T219K +4 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC126806913, OPA1 (A424V +9 more) | Single nucleotide variant (missense variant) | not provided | |
| | OPA1, OPA1-AS1 (L192V +4 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | OPA1, OPA1-AS1 (G191D +4 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | LOC126806913, OPA1 (V424fs +9 more) | Insertion (frameshift variant) | not provided | |
| | OPA1, OPA1-AS1 (Q204* +4 more) | Single nucleotide variant (nonsense +1 more) | not provided | |
| | OPA1, OPA1-AS1 (G150A +5 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | OPA1, OPA1-AS1 (Q186K +4 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | LOC126806913, OPA1 (M533V +9 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | OPA1, OPA1-AS1 (Q236R +4 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | OPA1, OPA1-AS1 (E207K +4 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | OPA1, OPA1-AS1 (F193S +5 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | OPA1, OPA1-AS1 (K243E +4 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC126806913, OPA1 (S409G +9 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | OPA1, OPA1-AS1 (R194S +5 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | OPA1, OPA1-AS1 (I203T +4 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | LOC126806913, OPA1 (Q438* +9 more) | Single nucleotide variant (nonsense) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | OPA1, OPA1-AS1 (R193C +4 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC126806913, OPA1 (V432G +9 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC126806913, OPA1 (M409L +9 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC126806913, OPA1 (Q439* +9 more) | Single nucleotide variant (nonsense) | Autosomal dominant optic atrophy classic form | |
| | OPA1-AS1, OPA1 (E187G +4 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | OPA1, OPA1-AS1 (A156fs +5 more) | Indel (non-coding transcript variant +1 more) | not provided | |
| | OPA1, OPA1-AS1 (D167N +5 more) | Single nucleotide variant (missense variant) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | OPA1, OPA1-AS1 (R208L +4 more) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | OPA1, OPA1-AS1 (K204R +5 more) | Single nucleotide variant (missense variant) | not provided | |