| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Microsatellite (frameshift variant) | Abnormal central motor function +1 more | |
| | | Deletion (frameshift variant) | Abnormal central motor function | |
| | | Single nucleotide variant (nonsense) | Abnormal central motor function | |
| | | Single nucleotide variant (nonsense) | Abnormal central motor function | |
| | | Insertion (frameshift variant) | Abnormal central motor function +3 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Abnormal central motor function +3 more | |
| | | Deletion (frameshift variant) | Abnormal central motor function +6 more | |
Click to view in NCBI Gene