| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Rett syndrome | |
| | | Single nucleotide variant (missense variant) | Rett syndrome | |
| | | Single nucleotide variant (missense variant) | Syndromic X-linked intellectual disability Lubs type +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Severe neonatal-onset encephalopathy with microcephaly +4 more | |
Click to view in NCBI Gene