| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Seizure | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (intron variant) | Early infantile epileptic encephalopathy with suppression bursts +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Seizure | |
| | | Single nucleotide variant (missense variant) | Seizure | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 7 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 7 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene