| | | Deletion (frameshift variant) | Spastic paraplegia | |
| | | Deletion (frameshift variant) | Spastic paraplegia | |
| | | Duplication (frameshift variant) | Hereditary spastic paraplegia 50 +1 more | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Duplication (frameshift variant) | Spastic paraplegia | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | AP-4 deficiency syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia | |
| | | Duplication (frameshift variant) | not provided | |
| | | Deletion (frameshift variant) | Spastic paraplegia | |
| | | Single nucleotide variant (nonsense) | Hereditary spastic paraplegia 50 | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 50 | |
| | | Single nucleotide variant (nonsense) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 50 | |
| | | Single nucleotide variant (nonsense) | AP4M1-related condition +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | Spastic paraplegia | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (nonsense) | Hereditary spastic paraplegia 50 +1 more | |
| | | Single nucleotide variant (splice donor variant) | Hereditary spastic paraplegia 50 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |