| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Torsion dystonia 4 | |
| | | Single nucleotide variant (missense variant) | Hypomyelinating leukodystrophy 6 +1 more | |
| | | Single nucleotide variant (missense variant) | Torsion dystonia 4 | |
| | | Single nucleotide variant (missense variant) | Hypomyelinating leukodystrophy 6 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Torsion dystonia 4 +1 more | |
Click to view in NCBI Gene