| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (nonsense) | Spastic paraplegia +1 more | |
| | | Single nucleotide variant (nonsense) | Allan-Herndon-Dudley syndrome | |
| | | Single nucleotide variant (nonsense) | Allan-Herndon-Dudley syndrome | |
Click to view in NCBI Gene