| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 74 | |
| | | Single nucleotide variant (missense variant +1 more) | Epilepsy, childhood absence 2 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Febrile seizures, familial, 8 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 74 +1 more | |
| | | Deletion | Developmental and epileptic encephalopathy, 74 | |
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