| | | Single nucleotide variant (nonsense) | Charcot-Marie-Tooth disease axonal type 2S | |
| | | Deletion | Autosomal recessive distal spinal muscular atrophy 1 +1 more | |
| | | Duplication | Autosomal recessive distal spinal muscular atrophy 1 +1 more | |
| | | Deletion | Autosomal recessive distal spinal muscular atrophy 1 +1 more | |
| | | Deletion | Autosomal recessive distal spinal muscular atrophy 1 +1 more | |
| | | Deletion | Autosomal recessive distal spinal muscular atrophy 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Deletion (frameshift variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Duplication (frameshift variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Deletion (frameshift variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Deletion (frameshift variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Microsatellite (nonsense) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Duplication (intron variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Deletion (intron variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Deletion (intron variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Single nucleotide variant (nonsense) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Duplication (frameshift variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Single nucleotide variant (nonsense) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Deletion (splice donor variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Deletion (frameshift variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive distal spinal muscular atrophy 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive distal spinal muscular atrophy 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive distal spinal muscular atrophy 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive distal spinal muscular atrophy 1 +1 more | |
| | | Single nucleotide variant (nonsense) | Autosomal recessive distal spinal muscular atrophy 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive distal spinal muscular atrophy 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive distal spinal muscular atrophy 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive distal spinal muscular atrophy 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive distal spinal muscular atrophy 1 +1 more | |
| | | Deletion (frameshift variant) | Autosomal recessive distal spinal muscular atrophy 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive distal spinal muscular atrophy 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive distal spinal muscular atrophy 1 +1 more | |
| | | Microsatellite (frameshift variant) | Autosomal recessive distal spinal muscular atrophy 1 +1 more | |
| | | Duplication (frameshift variant) | Autosomal recessive distal spinal muscular atrophy 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive distal spinal muscular atrophy 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive distal spinal muscular atrophy 1 +1 more | |
| | | Deletion (frameshift variant) | Autosomal recessive distal spinal muscular atrophy 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive distal spinal muscular atrophy 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Deletion (splice donor variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Deletion (intron variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |