| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 43 | |
| | | Single nucleotide variant (missense variant) | Epilepsy, childhood absence, susceptibility to, 5 +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 43 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 43 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Epilepsy, childhood absence, susceptibility to, 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 43 | |
| | | Single nucleotide variant (missense variant +1 more) | Epilepsy, childhood absence, susceptibility to, 1 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Epilepsy, childhood absence, susceptibility to, 5 +6 more | GConflicting classifications of pathogenicity |
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