| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Angelman syndrome-like +3 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | CDKL5 disorder | |
| | | Duplication (frameshift variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (nonsense) | Focal epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | CDKL5 disorder | |
Click to view in NCBI Gene