| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset +5 more | |
| | | Single nucleotide variant (missense variant) | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | |
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