| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (5 prime UTR variant) | Spastic paraplegia +3 more | |
| | | Duplication (frameshift variant) | Spastic paraplegia +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Allan-Herndon-Dudley syndrome +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene