| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Deletion (intron variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (intron variant) | KIF1B-related condition +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | BSCL2, HNRNPUL2-BSCL2 (A367P +2 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Duplication (intron variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (nonsense) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | BSCL2, HNRNPUL2-BSCL2 (Q121H +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 2 | |