| | | Deletion | Charcot-Marie-Tooth disease axonal type 2C | |
| | | Single nucleotide variant (missense variant) | Neuronopathy, distal hereditary motor, autosomal dominant 8 | |
| | | Single nucleotide variant (nonsense) | Charcot-Marie-Tooth disease axonal type 2C | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2C | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Scapuloperoneal spinal muscular atrophy | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease axonal type 2C | |
| | | Single nucleotide variant (splice donor variant) | Charcot-Marie-Tooth disease axonal type 2C | |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease axonal type 2C | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2C | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Charcot-Marie-Tooth disease axonal type 2C +5 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | Not Specified | Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant |
| | | Deletion (frameshift variant) | Not Specified | Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Metatropic dysplasia +5 more | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |