| | AP4B1, AP4B1-AS1 (T219fs +2 more) | Deletion (frameshift variant) | Hereditary spastic paraplegia 47 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (splice donor variant) | Spastic paraplegia +1 more | |
| | | Deletion (frameshift variant) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 30 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (frameshift variant) | Dysphagia +6 more | |
| | | Single nucleotide variant (nonsense) | Hereditary spastic paraplegia 5A +1 more | |
| | | Single nucleotide variant (synonymous variant) | Ritscher-Schinzel syndrome +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Spastic paraplegia +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | KIF5A-related disorder +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Myoclonus, intractable, neonatal +6 more | |
| | | Single nucleotide variant (missense variant) | not specified +4 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | ERCC5, BIVM-ERCC5 (L977fs +1 more) | Microsatellite (frameshift variant) | Pes cavus +7 more | |
| | | Single nucleotide variant (nonsense) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Stuttering, familial persistent, 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Stuttering, familial persistent, 1 +2 more | |
| | | Deletion (splice acceptor variant) | Hereditary spastic paraplegia 7 +10 more | |
| | | Copy number loss | Memory impairment +3 more | |
| | | Single nucleotide variant (missense variant) | Congenital muscular hypertrophy-cerebral syndrome +9 more | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Spastic paraplegia +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia +2 more | |