| | | Single nucleotide variant (missense variant +1 more) | 3-Methylglutaconic aciduria type 3 | |
| | | Single nucleotide variant (missense variant +1 more) | OPA3-related condition | |
| | | Single nucleotide variant (synonymous variant +1 more) | 3-Methylglutaconic aciduria type 3 +1 more | |
| | | Single nucleotide variant (intron variant) | Optic atrophy 3 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Optic atrophy 3 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | 3-Methylglutaconic aciduria type 3 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | 3-Methylglutaconic aciduria type 3 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | 3-Methylglutaconic aciduria type 3 +1 more | |
| | | Single nucleotide variant (synonymous variant) | 3-Methylglutaconic aciduria type 3 +1 more | |
| | | Single nucleotide variant (intron variant) | 3-Methylglutaconic aciduria type 3 +1 more | |
| | | Duplication (intron variant) | 3-Methylglutaconic aciduria type 3 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | 3-Methylglutaconic aciduria type 3 +1 more | |
| | | Single nucleotide variant (synonymous variant) | 3-Methylglutaconic aciduria type 3 +1 more | |
| | | Single nucleotide variant (missense variant) | OPA3-related condition +2 more | |
| | | Single nucleotide variant (intron variant) | Optic atrophy 3 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Optic atrophy 3 +1 more | |
| | | Single nucleotide variant (synonymous variant) | 3-Methylglutaconic aciduria type 3 +1 more | |
| | | Single nucleotide variant (synonymous variant) | 3-Methylglutaconic aciduria type 3 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | 3-Methylglutaconic aciduria type 3 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | 3-Methylglutaconic aciduria type 3 +1 more | |
| | | Indel (missense variant +1 more) | 3-Methylglutaconic aciduria type 3 +1 more | |
| | | Single nucleotide variant (intron variant) | Optic atrophy 3 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Optic atrophy 3 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Optic atrophy 3 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Optic atrophy 3 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Optic atrophy 3 +1 more | |
| | | Single nucleotide variant (intron variant) | Optic atrophy 3 +1 more | |
| | | Single nucleotide variant (intron variant) | Optic atrophy 3 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Optic atrophy 3 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Optic atrophy 3 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Optic atrophy 3 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Optic atrophy 3 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Optic atrophy 3 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Optic atrophy 3 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Optic atrophy 3 +1 more | |
| | | Single nucleotide variant (intron variant) | Optic atrophy 3 +1 more | |
| | | Microsatellite (intron variant) | Optic atrophy 3 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Optic atrophy 3 +1 more | |
| | | Single nucleotide variant (intron variant) | Optic atrophy 3 +1 more | |
| | | Single nucleotide variant (intron variant +1 more) | 3-Methylglutaconic aciduria type 3 +1 more | |
| | | Single nucleotide variant (synonymous variant) | 3-Methylglutaconic aciduria type 3 +1 more | |
| | | Single nucleotide variant (intron variant) | 3-Methylglutaconic aciduria type 3 +1 more | |
| | | Deletion (splice donor variant) | 3-Methylglutaconic aciduria type 3 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | 3-Methylglutaconic aciduria type 3 +1 more | |
| | | Single nucleotide variant (missense variant) | 3-Methylglutaconic aciduria type 3 +1 more | |
| | | Single nucleotide variant (intron variant) | Optic atrophy 3 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Optic atrophy 3 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | 3-Methylglutaconic aciduria type 3 +1 more | |
| | | Single nucleotide variant (synonymous variant) | 3-Methylglutaconic aciduria type 3 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | 3-Methylglutaconic aciduria type 3 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Optic atrophy 3 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | 3-Methylglutaconic aciduria type 3 +1 more | |
| | | Single nucleotide variant (intron variant) | 3-Methylglutaconic aciduria type 3 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | 3-Methylglutaconic aciduria type 3 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | 3-Methylglutaconic aciduria type 3 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | 3-Methylglutaconic aciduria type 3 +1 more | |
| | | Deletion (frameshift variant +1 more) | 3-Methylglutaconic aciduria type 3 +1 more | |
| | OPA3, LOC130064709 (I16fs) | Deletion (frameshift variant) | 3-Methylglutaconic aciduria type 3 | |
| | | Deletion (frameshift variant +1 more) | 3-Methylglutaconic aciduria type 3 | |
| | | Duplication (frameshift variant +1 more) | 3-Methylglutaconic aciduria type 3 | |
| | | Single nucleotide variant (nonsense) | 3-Methylglutaconic aciduria type 3 | |
| | | Single nucleotide variant (intron variant +1 more) | 3-Methylglutaconic aciduria type 3 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | 3-Methylglutaconic aciduria type 3 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | OPA3-related condition | |
| | | Single nucleotide variant (missense variant) | OPA3-related condition | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | 3-Methylglutaconic aciduria type 3 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | 3-Methylglutaconic aciduria type 3 +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Optic atrophy 3 +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Indel (missense variant +1 more) | 3-Methylglutaconic aciduria type 3 +1 more | |
| | | Single nucleotide variant (missense variant) | 3-Methylglutaconic aciduria type 3 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | 3-Methylglutaconic aciduria type 3 +1 more | |
| | | Single nucleotide variant (missense variant) | 3-Methylglutaconic aciduria type 3 +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | 3-Methylglutaconic aciduria type 3 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | 3-Methylglutaconic aciduria type 3 +2 more | |
| | | Single nucleotide variant (missense variant) | 3-Methylglutaconic aciduria type 3 +2 more | |
| | | Single nucleotide variant (intron variant) | 3-Methylglutaconic aciduria type 3 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | 3-Methylglutaconic aciduria type 3 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | 3-Methylglutaconic aciduria type 3 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Optic atrophy 3 +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | 3-Methylglutaconic aciduria type 3 +1 more | |
| | | Single nucleotide variant (missense variant) | 3-Methylglutaconic aciduria type 3 +1 more | |
| | | Single nucleotide variant (intron variant) | 3-Methylglutaconic aciduria type 3 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | 3-Methylglutaconic aciduria type 3 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | 3-Methylglutaconic aciduria type 3 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | 3-Methylglutaconic aciduria type 3 +1 more | |
| | | Single nucleotide variant (synonymous variant) | 3-Methylglutaconic aciduria type 3 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | 3-Methylglutaconic aciduria type 3 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | 3-Methylglutaconic aciduria type 3 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | 3-Methylglutaconic aciduria type 3 +1 more | |
| | | Single nucleotide variant (nonsense) | 3-Methylglutaconic aciduria type 3 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | 3-Methylglutaconic aciduria type 3 +1 more | |