| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Dystonia 28, childhood-onset | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Dystonia 28, childhood-onset +1 more | |
| | | Duplication (frameshift variant) | Dystonia 28, childhood-onset +1 more | |
| | | Single nucleotide variant (missense variant) | Dystonia 28, childhood-onset | |
| | | Copy number gain | Specific learning disability | |
Click to view in NCBI Gene