| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 7 +1 more | |
| | | Deletion (inframe_deletion) | Developmental and epileptic encephalopathy, 7 | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 7 | |
| | | Single nucleotide variant (missense variant) | Seizure +1 more | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 7 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
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