| | | Single nucleotide variant (missense variant) | Intellectual disability, moderate +4 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, moderate +4 more | |
| | | Single nucleotide variant (nonsense) | Spasticity | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Duplication (frameshift variant) | Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities +4 more | |
| | | Deletion (frameshift variant) | Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Spasticity +2 more | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 8 +1 more | |
| | | Single nucleotide variant (intron variant) | Developmental cataract +17 more | |
| | | Single nucleotide variant (nonsense +1 more) | Spasticity | |
| | | Single nucleotide variant (missense variant) | Spasticity +4 more | |
| | | Microsatellite (inframe_deletion) | Infantile spasms +4 more | |
| | | Deletion (genic downstream transcript variant) | Global developmental delay +5 more | |
| | | Single nucleotide variant (missense variant) | Global developmental delay +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +10 more | |
| | | Duplication (inframe_insertion) | Intellectual disability +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1A +13 more | |
| | | Deletion (frameshift variant) | Spasticity +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | CACNA1A-related disorder +18 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Male infertility due to gonadal dysgenesis or sperm disorder +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Roussy-Lévy syndrome +3 more | |
| | | Inversion | Microcephaly +5 more | |
| | | Translocation | Posteriorly placed tongue +17 more | |
| | | Inversion | Microcephaly +3 more | |
| | | Single nucleotide variant (stop lost +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | PMM2-related condition +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GPathogenic/Likely pathogenic |