| | | Single nucleotide variant (missense variant) | Primary dilated cardiomyopathy +16 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | Charcot-Marie-Tooth disease | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GPathogenic/Likely pathogenic |
| | | 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 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease, type I | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +9 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +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 2I +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease, type I +5 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease, type I | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (nonsense) | Charcot-Marie-Tooth disease type 4C +4 more | |
| | | Single nucleotide variant (nonsense) | Susceptibility to mononeuropathy of the median nerve, mild +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Charcot-Marie-Tooth disease type 4C +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease +13 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Charcot-Marie-Tooth disease | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2D +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2E +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease type 4A +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease type 4A | |
| | | Single nucleotide variant (nonsense) | Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive +11 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hereditary sensory and autonomic neuropathy type 1 +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary sensory and autonomic neuropathy type 1 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | Medulloblastoma +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease, type I | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 1D +2 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease, type I | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | BSCL2, HNRNPUL2-BSCL2 (S154W +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4H +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Charcot-Marie-Tooth disease +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Metatropic dysplasia +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | TRPV4-related disorder +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Neuronopathy, distal hereditary motor, autosomal dominant 8 +14 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease +2 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease | |
| | | Single nucleotide variant (missense variant) | not specified +9 more | |
| | | Deletion (splice donor variant) | Agenesis of the corpus callosum with peripheral neuropathy +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Charcot-Marie-Tooth disease | |
| | | Single nucleotide variant (missense variant +2 more) | Charcot-Marie-Tooth disease | |
| | | Single nucleotide variant (missense variant +2 more) | Charcot-Marie-Tooth disease type 1C | |
| | | Single nucleotide variant (missense variant +2 more) | Charcot-Marie-Tooth disease type 1C | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease type 1C +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary liability to pressure palsies +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease, type I +5 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Charcot-Marie-Tooth disease | |
| | | Duplication (frameshift variant +1 more) | Charcot-Marie-Tooth disease +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 4 +4 more | GPathogenic/Likely pathogenic |
| | | Deletion (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 4 +1 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth Neuropathy X +3 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth Neuropathy X +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Charcot-Marie-Tooth disease X-linked dominant 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease X-linked dominant 1 +3 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth Neuropathy X +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease X-linked dominant 1 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Menkes kinky-hair syndrome +2 more | |
| | | Single nucleotide variant | Mitochondrial disease | |