| | | Single nucleotide variant (missense variant +1 more) | Dejerine-Sottas disease | |
| | | Deletion (frameshift variant) | Dejerine-Sottas disease | |
| | | Deletion (inframe deletion) | Roussy-Lévy syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Dejerine-Sottas disease | |
| | | Deletion (inframe_deletion +1 more) | Dejerine-Sottas disease | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease, type I +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Dejerine-Sottas disease +1 more | |
| | | Single nucleotide variant (missense variant) | Dejerine-Sottas disease | |
| | | Deletion (3 prime UTR variant +1 more) | Dejerine-Sottas disease | |
| | | Single nucleotide variant (missense variant) | Dejerine-Sottas disease | |
| | | Single nucleotide variant (missense variant) | Dejerine-Sottas disease | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Dejerine-Sottas disease | |
| | | Single nucleotide variant (synonymous variant) | Dejerine-Sottas disease +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +6 more | |
| | | Single nucleotide variant (missense variant) | Dejerine-Sottas disease +1 more | |
| | | Single nucleotide variant (missense variant) | Dejerine-Sottas disease | |
| | | Deletion (frameshift variant) | Dejerine-Sottas disease | |
| | | Single nucleotide variant (missense variant +1 more) | Dejerine-Sottas disease | |
| | | Single nucleotide variant (missense variant +1 more) | Dejerine-Sottas disease | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (inframe_deletion +1 more) | Charcot-Marie-Tooth disease, type I +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Dejerine-Sottas disease | |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease, type I | |
| | | Single nucleotide variant (missense variant +1 more) | Dejerine-Sottas disease | |
| | | Single nucleotide variant (missense variant +1 more) | Dejerine-Sottas disease | |
| | | Deletion (inframe_deletion) | Dejerine-Sottas disease | |
| | | Duplication (frameshift variant) | Dejerine-Sottas disease | |
| | | Single nucleotide variant (missense variant) | Dejerine-Sottas disease | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease, type I | |
| | | Deletion (inframe_deletion) | Dejerine-Sottas disease | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Dejerine-Sottas disease | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Guillain-Barre syndrome, familial +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease, type I | |
| | | Single nucleotide variant (missense variant) | Dejerine-Sottas disease | |
| | | Single nucleotide variant (missense variant +1 more) | Dejerine-Sottas disease | |
| | | Indel (inframe_indel) | Dejerine-Sottas disease | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease, type I +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (inframe_deletion) | Charcot-Marie-Tooth disease type 1B | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Dejerine-Sottas disease +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease, type I | |
| | | Single nucleotide variant (nonsense) | Charcot-Marie-Tooth disease type 4E +2 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4F +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 4 +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 4 +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease, type I +8 more | |
| | | Deletion (frameshift variant) | Neuropathy, congenital hypomyelinating, 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Roussy-Lévy syndrome +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease, type I +6 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Microsatellite (inframe_deletion) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Deletion (3 prime UTR variant +1 more) | Dejerine-Sottas disease | |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease, type I | |
| | | Single nucleotide variant (synonymous variant +1 more) | Charcot-Marie-Tooth disease, type I +9 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 4F +6 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 4F +4 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 4 +4 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +6 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +9 more | |
| | | Single nucleotide variant (no sequence alteration) | Charcot-Marie-Tooth disease type 4E +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +10 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 4F +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | Dejerine-Sottas disease +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary liability to pressure palsies +8 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 4F +5 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +4 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease +5 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease, type I | |
| | | Deletion (frameshift variant) | Autosomal recessive Dejerine-Sottas syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease, type I | |
| | | Single nucleotide variant (missense variant) | Dejerine-Sottas disease +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +9 more | |
| | | Single nucleotide variant (missense variant) | not provided +9 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Dejerine-Sottas disease +7 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease X-linked dominant 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 4 +2 more | GPathogenic/Likely pathogenic |