| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (splice donor variant +1 more) | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | |
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