| | | Single nucleotide variant (missense variant) | Hereditary insensitivity to pain with anhidrosis +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (splice donor variant) | Hereditary insensitivity to pain with anhidrosis | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | Hereditary insensitivity to pain with anhidrosis | |
| | | Single nucleotide variant (nonsense) | Charcot-Marie-Tooth disease | |
| | | Deletion (frameshift variant) | Hereditary insensitivity to pain with anhidrosis | |
| | | Single nucleotide variant (splice donor variant) | Hereditary insensitivity to pain with anhidrosis | |
| | | Single nucleotide variant (missense variant) | Hereditary insensitivity to pain with anhidrosis +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Hereditary sensory and autonomic neuropathy | |
| | | Duplication (frameshift variant) | Charcot-Marie-Tooth disease | |
| | | Deletion (frameshift variant) | Hereditary insensitivity to pain with anhidrosis | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Insertion (frameshift variant) | Charcot-Marie-Tooth disease | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease | |
| | | Single nucleotide variant (splice acceptor variant) | Charcot-Marie-Tooth disease | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease | |
| | | Deletion (frameshift variant) | Hereditary insensitivity to pain with anhidrosis | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary insensitivity to pain with anhidrosis | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | | Insertion (frameshift variant) | Charcot-Marie-Tooth disease | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease | |
| | | Single nucleotide variant (missense variant) | Hereditary insensitivity to pain with anhidrosis | |
| | | Single nucleotide variant (missense variant) | Hereditary sensory and autonomic neuropathy | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease | |
| | | Single nucleotide variant (missense variant) | Hereditary insensitivity to pain with anhidrosis | |
| | | Single nucleotide variant (nonsense) | Hereditary insensitivity to pain with anhidrosis | |
| | | Duplication (frameshift variant) | Charcot-Marie-Tooth disease | |
| | | Single nucleotide variant (nonsense) | Charcot-Marie-Tooth disease | |