| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | not provided +2 more | |
| | | Deletion (frameshift variant) | Seizures, benign familial neonatal, 1 | |
| | | Duplication (frameshift variant) | Seizures, benign familial neonatal, 1 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Seizures, benign familial neonatal, 1 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 7 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Neonatal/infantile epilepsy syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 7 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Indel (nonsense) | Seizures, benign familial neonatal, 1 | |
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