| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Rett syndrome | |
| | | Deletion (frameshift variant) | See cases +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (splice acceptor variant +2 more) | Rett syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Developmental regression +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autism, susceptibility to, X-linked 3 +7 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene