| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Dystonia 12 +6 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Alternating hemiplegia of childhood 2 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Alternating hemiplegia of childhood 2 | |
| | | Deletion (frameshift variant) | Seizures, benign familial neonatal, 1 | |
| | | Single nucleotide variant (missense variant) | Alternating hemiplegia of childhood 2 | |
| | | Single nucleotide variant (missense variant) | Dystonia 12 | |
| | | Single nucleotide variant (missense variant) | Alternating hemiplegia of childhood 2 | |
| | | Variation | Seizure | |
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