| | | Single nucleotide variant (3 prime UTR variant) | Scapuloperoneal spinal muscular atrophy +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Scapuloperoneal spinal muscular atrophy +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Scapuloperoneal spinal muscular atrophy +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Spondylometaphyseal dysplasia, Kozlowski type +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuronopathy, distal hereditary motor, autosomal dominant 8 +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Metatropic dysplasia +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Spondylometaphyseal dysplasia, Kozlowski type +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Spondylometaphyseal dysplasia, Kozlowski type +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Spondylometaphyseal dysplasia, Kozlowski type +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Charcot-Marie-Tooth disease axonal type 2C +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Scapuloperoneal spinal muscular atrophy +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Charcot-Marie-Tooth disease axonal type 2C +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Scapuloperoneal spinal muscular atrophy +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Charcot-Marie-Tooth disease axonal type 2C +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Spondylometaphyseal dysplasia, Kozlowski type +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Metatropic dysplasia +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | Charcot-Marie-Tooth disease axonal type 2C +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified | |
| | | Single nucleotide variant (stop lost) | Charcot-Marie-Tooth disease | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2C +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2C | |
| | | Single nucleotide variant (missense variant) | Connective tissue disorder +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2C | |
| | | Deletion (frameshift variant) | Charcot-Marie-Tooth disease axonal type 2C | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2C | |
| | | Deletion (inframe_deletion) | Charcot-Marie-Tooth disease axonal type 2C +1 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2C +1 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2C | |
| | | Deletion (frameshift variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2C | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2C | |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2C | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2C | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2C | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2C | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2C +6 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Duplication (frameshift variant) | Mild short stature | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2C | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease +4 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2C | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2C | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2C | |
| | | Deletion (inframe_deletion) | Charcot-Marie-Tooth disease axonal type 2C | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2C | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2C | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2C | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2C +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +10 more | |
| | | Single nucleotide variant (synonymous variant) | Metatropic dysplasia +6 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2C +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2C | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2C | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2C +1 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Scapuloperoneal spinal muscular atrophy +9 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2C | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2C | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2C | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2C +1 more | |
| | | Single nucleotide variant (missense variant) | Not Specified | Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2C +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (frameshift variant) | Not Specified | Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant |
| | | Single nucleotide variant (synonymous variant) | Spondylometaphyseal dysplasia +8 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2C | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2C | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | TRPV4-related disorder +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Spondylometaphyseal dysplasia, Kozlowski type | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2C | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2C +8 more | |
| | | Single nucleotide variant (missense variant) | Familial digital arthropathy-brachydactyly +11 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2C | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2C | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2C +1 more | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease axonal type 2C | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease axonal type 2C | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease axonal type 2C | |
| | | Single nucleotide variant (intron variant) | not provided +9 more | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease axonal type 2C | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease axonal type 2C | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease axonal type 2C | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease axonal type 2C | |