| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Alternating hemiplegia of childhood 2 +3 more | |
| | | Single nucleotide variant (synonymous variant) | Dystonia 12 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +13 more | |
| | | Single nucleotide variant (intron variant) | Dystonia 12 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 99 +6 more | |
| | | Single nucleotide variant (missense variant) | Dystonia 12 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hemiplegia +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Epicanthus +7 more | |
| | | Single nucleotide variant (missense variant) | Dystonia 12 | |
Click to view in NCBI Gene