| | | Deletion (frameshift variant) | Charcot-Marie-Tooth disease type 2I +5 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 1B | |
| | | Single nucleotide variant (splice donor variant) | Charcot-Marie-Tooth disease type 1B | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease dominant intermediate D +4 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 1B +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Charcot-Marie-Tooth disease type 1B | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 1B | |
| | | Single nucleotide variant (splice acceptor variant) | Charcot-Marie-Tooth disease type 1B | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 1B +1 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease, type I +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease, type I +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Charcot-Marie-Tooth disease type 1B +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Neuropathy, congenital hypomyelinating, 2 +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Charcot-Marie-Tooth disease type 1B +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuropathy, congenital hypomyelinating, 2 +3 more | |
| | | Single nucleotide variant (missense variant) | Neuropathy, congenital hypomyelinating, 2 +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuropathy, congenital hypomyelinating, 2 +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Charcot-Marie-Tooth disease type 1B +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Roussy-Lévy syndrome +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Charcot-Marie-Tooth disease type 1B +3 more | |
| | | Single nucleotide variant (missense variant) | Roussy-Lévy syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease, type I +1 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease, type I +1 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease, type I +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 1B +1 more | |
| | | Deletion (inframe_deletion) | Charcot-Marie-Tooth disease type 1B | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease, type I +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Deletion | Variegate porphyria +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +6 more | |
| | | Deletion (frameshift variant) | MPZ-related disorder +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease, type I | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 1B +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_deletion) | Charcot-Marie-Tooth disease +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 1B +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 1B +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Roussy-Lévy syndrome +8 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Neuropathy, congenital hypomyelinating, 2 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Neuropathy, congenital hypomyelinating, 2 +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuropathy, congenital hypomyelinating, 2 +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuropathy, congenital hypomyelinating, 2 +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuropathy, congenital hypomyelinating, 2 +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuropathy, congenital hypomyelinating, 2 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Charcot-Marie-Tooth disease type 1B +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuropathy, congenital hypomyelinating, 2 +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuropathy, congenital hypomyelinating, 2 +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Charcot-Marie-Tooth disease type 4E +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Neuropathy, congenital hypomyelinating, 2 +4 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +9 more | GConflicting classifications of pathogenicity |
| | | Deletion (inframe_deletion) | not provided +1 more | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 1B | |
| | | Deletion | Charcot-Marie-Tooth disease type 1B | |
| | | Duplication (genic upstream transcript variant) | Charcot-Marie-Tooth disease type 1B | |
| | | Single nucleotide variant (missense variant) | Roussy-Lévy syndrome +8 more | GConflicting classifications of pathogenicity |
| | | Deletion (splice acceptor variant) | Charcot-Marie-Tooth disease type 1B +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 1B | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Dejerine-Sottas disease +8 more | GConflicting classifications of pathogenicity |
| | | Protein only | Charcot-Marie-Tooth disease type 1B | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease, type I | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease, type I | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 1B | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 2I +9 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +8 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease | |
| | | Single nucleotide variant (splice donor variant) | Charcot-Marie-Tooth disease | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease, type I +3 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease, type I +1 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Charcot-Marie-Tooth disease type 1B | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease, type I +2 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease, type I +1 more | |
| | | Deletion (frameshift variant) | Charcot-Marie-Tooth disease dominant intermediate D +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 1B | |
| | | Single nucleotide variant (missense variant) | See cases +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease, type I | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 1B | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease, type I +1 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease, type I | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease, type I +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +9 more | |
| | | Single nucleotide variant (missense variant) | CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, WITH FOCALLY FOLDED MYELIN SHEATHS | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease +2 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease, type I +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease, type I +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease, type I | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +9 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease, type I +1 more | |