| | | Single nucleotide variant (missense variant) | X-linked hydrocephalus syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | X-linked complicated corpus callosum dysgenesis | |
| | | Single nucleotide variant (splice donor variant) | X-linked complicated corpus callosum dysgenesis | |
| | | Single nucleotide variant (nonsense) | X-linked complicated corpus callosum dysgenesis | |
| | | Indel (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | MASA syndrome +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | X-linked complicated corpus callosum dysgenesis | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Spastic paraplegia +5 more | |
| | | Single nucleotide variant (missense variant) | X-linked complicated corpus callosum dysgenesis +7 more | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | not specified +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GPathogenic/Likely pathogenic |