| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | X-linked intellectual disability-psychosis-macroorchidism syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Rett syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Syndromic X-linked intellectual disability Lubs type +9 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Rett syndrome | |
Click to view in NCBI Gene