| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | Early infantile epileptic encephalopathy with suppression bursts +1 more | |
| | | Single nucleotide variant (synonymous variant) | Coffin-Siris syndrome 1 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Tuberous sclerosis 1 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 94 +1 more | |
| | | Duplication (frameshift variant) | Seizures, benign familial infantile, 2 +14 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 33 +3 more | |
| | | Microsatellite (frameshift variant) | Seizure | |
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