| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | CDKL5 disorder | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 2 | |
| | | Deletion (frameshift variant) | Developmental and epileptic encephalopathy, 2 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 2 | |
| | | Single nucleotide variant (missense variant) | Epileptic encephalopathy | |
| | | Deletion (frameshift variant) | Developmental and epileptic encephalopathy, 2 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 4 | |
| | | Single nucleotide variant (nonsense) | Developmental and epileptic encephalopathy, 2 +2 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | Angelman syndrome-like +1 more | |
| | | Deletion (frameshift variant) | Seizure | |
| | | Single nucleotide variant (missense variant) | Seizure | |
| | | Single nucleotide variant (splice donor variant) | Developmental and epileptic encephalopathy, 2 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Nicolaides-Baraitser syndrome | |
| | | Duplication | Developmental and epileptic encephalopathy, 2 | |
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