| | | Deletion (nonsense) | Charcot-Marie-Tooth disease type 2J | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease, type I +4 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease, type I +1 more | |
| | | Deletion (frameshift variant) | Inborn genetic diseases +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease, type I | |
| | | Single nucleotide variant (missense variant) | Roussy-Lévy syndrome +7 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (inframe_deletion) | Inborn genetic diseases +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +10 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Neuropathy, congenital hypomyelinating, 2 +8 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease, type I +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease, type I | |
| | | Single nucleotide variant (missense variant) | MPZ-related condition +9 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease, type I | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +9 more | |
| | | Single nucleotide variant (missense variant) | Roussy-Lévy syndrome +7 more | |