| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | Cerebellar ataxia +2 more | |
| | | Deletion (frameshift variant) | Intellectual disability +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | Intellectual disability | |
| | | Single nucleotide variant (nonsense) | Neurodevelopmental disorder +4 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 54 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Dystonic disorder | |
| | | Single nucleotide variant (nonsense +1 more) | Dystonic disorder | |
| | | Microsatellite (frameshift variant) | Dystonic disorder | |
| | | Deletion (frameshift variant) | Specific learning disability +4 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 99 +6 more | |
| | | Deletion | Dystonic disorder | |
| | | Single nucleotide variant (missense variant +1 more) | Pigmentary pallidal degeneration +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Pigmentary pallidal degeneration | |
| | LOC126863256, WDR45 (C23fs) | Deletion (frameshift variant) | Dystonic disorder +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Bulbar palsy +11 more | |
| | | Deletion | Ichthyosis +2 more | |
| | | Deletion | Congenital cerebellar hypoplasia +4 more | |