| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Epilepsy, childhood absence 2 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 74 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 74 | |
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