| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Alternating hemiplegia of childhood 2 +3 more | |
| | | Single nucleotide variant (missense variant) | Dystonia 12 +5 more | |
| | | Single nucleotide variant (missense variant) | Alternating hemiplegia of childhood 2 +4 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +13 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 99 +6 more | |
| | | Single nucleotide variant (missense variant) | not provided +6 more | GPathogenic/Likely pathogenic |
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