| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2CC | |
| | | Deletion (frameshift variant) | Charcot-Marie-Tooth disease axonal type 2CC | |
| | | Microsatellite (inframe_deletion) | Charcot-Marie-Tooth disease axonal type 2CC | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2CC | |
| | | Deletion (frameshift variant) | Charcot-Marie-Tooth disease axonal type 2CC | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2CC | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2CC | |
| | | Single nucleotide variant (nonsense) | Charcot-Marie-Tooth disease axonal type 2CC +1 more | |
| | | Duplication (frameshift variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Charcot-Marie-Tooth disease axonal type 2CC | |
| | | Single nucleotide variant (missense variant) | NEFH-related condition +2 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2CC +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2CC +1 more | |
| | | Single nucleotide variant (nonsense) | Charcot-Marie-Tooth disease axonal type 2CC | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2CC | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2CC +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2CC +2 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2CC +2 more | |
| | | Duplication (frameshift variant) | Charcot-Marie-Tooth disease axonal type 2CC | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2CC +2 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2CC +2 more | |
| | | Single nucleotide variant (missense variant) | Amyotrophic lateral sclerosis type 1 +2 more | |