| | | Deletion | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (nonsense +1 more) | Charcot-Marie-Tooth disease type 4F | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC130064454, PRX (K39fs +1 more) | Deletion (frameshift variant) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 4 | |
| | | Indel (missense variant) | not provided | |
| | | Deletion (inframe_deletion +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC130064454, PRX (K134R +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC130064454, PRX (A35T +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC130064454, PRX (R12T +1 more) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC130064454, PRX (G133D +1 more) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC130064454, PRX (G133R +1 more) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC130064454, PRX (L47P +1 more) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC130064454, PRX (V139L +1 more) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 4 | |
| | | Deletion (inframe_indel +2 more) | not provided | |
| | LOC130064454, PRX (S146L +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC130064454, PRX (N33K +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Deletion (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 4 +1 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 4F | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease +1 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease | |
| | | Deletion (frameshift variant) | Charcot-Marie-Tooth disease | |
| | | Indel (frameshift variant) | Charcot-Marie-Tooth disease | |
| | | Insertion (inframe_insertion) | Charcot-Marie-Tooth disease | |
| | | Insertion (frameshift variant) | Charcot-Marie-Tooth disease | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 4F | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 4 | |
| | | Microsatellite (frameshift variant) | Charcot-Marie-Tooth disease, type I | |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Distal spinal muscular atrophy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Distal spinal muscular atrophy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease +2 more | |
| | | Duplication (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease, type I | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (frameshift variant) | Charcot-Marie-Tooth disease | |
| | | Single nucleotide variant (nonsense) | Charcot-Marie-Tooth disease | |
| | | Duplication (frameshift variant) | Charcot-Marie-Tooth disease | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 4F | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4F +3 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 4 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 4 +2 more | |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Charcot-Marie-Tooth disease type 4F | |
| | | Single nucleotide variant (5 prime UTR variant) | Charcot-Marie-Tooth disease type 4F | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |