| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Rett syndrome | |
| | | Single nucleotide variant (nonsense) | Rett syndrome +8 more | |
| | | Single nucleotide variant (missense variant +1 more) | Rett syndrome | |
| | | Duplication (frameshift variant +1 more) | Rett syndrome | |
Click to view in NCBI Gene