| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Rett syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | MECP2-related condition +8 more | |
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder +15 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene