| | | Deletion (frameshift variant +1 more) | Charcot-Marie-Tooth disease type 1E | |
| | | Copy number gain | Charcot-Marie-Tooth disease type 1E | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +6 more | |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease, type I +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Guillain-Barre syndrome, familial +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +8 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease, type I | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +9 more | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease +9 more | |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary liability to pressure palsies +8 more | |
| | | Deletion (frameshift variant +1 more) | Charcot-Marie-Tooth disease, type I +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary liability to pressure palsies +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (inframe_deletion +1 more) | Charcot-Marie-Tooth disease +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |