| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Infantile convulsions and choreoathetosis | |
| | | Duplication (frameshift variant) | Seizure +13 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Infantile convulsions and choreoathetosis +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Infantile convulsions and choreoathetosis | |
| | | Single nucleotide variant (missense variant +1 more) | Infantile convulsions and choreoathetosis +1 more | |
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