| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | |
| | | Deletion | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | |
| | | Single nucleotide variant | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | |
| | | Duplication (splice donor variant +1 more) | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +1 more) | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Childhood Onset Dystonias +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |