| | | Single nucleotide variant (nonsense) | MASA syndrome +1 more | |
| | | Deletion (frameshift variant) | MASA syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | X-linked hydrocephalus syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | MASA syndrome | |
| | | Microsatellite (frameshift variant) | MASA syndrome | |
| | | Single nucleotide variant (nonsense) | MASA syndrome | |
| | | Single nucleotide variant (intron variant +1 more) | MASA syndrome | |
| | | 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) | Spastic paraplegia +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | MASA syndrome | |
| | | Single nucleotide variant (missense variant) | MASA syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | MASA syndrome | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia | |
| | | Microsatellite (frameshift variant) | MASA syndrome | |
| | | Single nucleotide variant (missense variant) | MASA syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +5 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (nonsense) | Spastic paraplegia +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +7 more | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia +4 more | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia +2 more | |
| | | Single nucleotide variant (missense variant) | MASA syndrome | |
| | | Single nucleotide variant (missense variant) | Severe hydrocephalus +4 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | MASA syndrome | |
| | | Single nucleotide variant (missense variant) | MASA syndrome | |
| | | Single nucleotide variant (missense variant) | MASA syndrome | |