| | | Duplication (frameshift variant) | Hereditary spastic paraplegia 10 | |
| | | Single nucleotide variant (splice acceptor variant) | Hereditary spastic paraplegia 4 | |
| | | Deletion (splice acceptor variant) | Hereditary spastic paraplegia 4 | |
| | | Single nucleotide variant (splice acceptor variant) | Hereditary spastic paraplegia 4 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 4 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4B1 | |
| | | Duplication | Charcot-Marie-Tooth disease, type IA | |
| | | Single nucleotide variant (missense variant) | Sterol carrier protein 2 deficiency | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2O | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2O | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Deletion (5 prime UTR variant +3 more) | Charcot-Marie-Tooth disease axonal type 2K | |
| | | Deletion (inframe_deletion) | Hereditary spastic paraplegia 10 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2F | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Torsion dystonia 4 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Menkes kinky-hair syndrome | |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | |
| | | Duplication (frameshift variant) | Charcot-Marie-Tooth disease type 2 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Hereditary spastic paraplegia 4 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |