| | | Single nucleotide variant (nonsense) | Spondylometaphyseal dysplasia, Kozlowski type +10 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Charcot-Marie-Tooth disease axonal type 2C +5 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Charcot-Marie-Tooth disease axonal type 2C +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Charcot-Marie-Tooth disease axonal type 2C +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Scapuloperoneal spinal muscular atrophy +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Brachyrachia (short spine dysplasia) +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Charcot-Marie-Tooth disease axonal type 2C +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +7 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Scapuloperoneal spinal muscular atrophy +5 more | |
| | | Single nucleotide variant (non-coding transcript variant) | Scapuloperoneal spinal muscular atrophy +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Spondylometaphyseal dysplasia, Kozlowski type +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Scapuloperoneal spinal muscular atrophy +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Spondylometaphyseal dysplasia, Kozlowski type +5 more | |
| | | Single nucleotide variant (synonymous variant) | Neuronopathy, distal hereditary motor, autosomal dominant 8 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Spondylometaphyseal dysplasia, Kozlowski type +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Scapuloperoneal spinal muscular atrophy +5 more | |
| | | Single nucleotide variant (missense variant) | Spondylometaphyseal dysplasia, Kozlowski type +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Brachyrachia (short spine dysplasia) +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Scapuloperoneal spinal muscular atrophy +5 more | |
| | | Single nucleotide variant (missense variant) | Neuronopathy, distal hereditary motor, autosomal dominant 8 +5 more | |
| | | Single nucleotide variant (synonymous variant) | Scapuloperoneal spinal muscular atrophy +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease +12 more | |
| | | Single nucleotide variant (missense variant) | Scapuloperoneal spinal muscular atrophy +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Spondylometaphyseal dysplasia, Kozlowski type +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +12 more | |
| | | Single nucleotide variant (missense variant) | Neuronopathy, distal hereditary motor, autosomal dominant 8 +5 more | |
| | | Single nucleotide variant (synonymous variant) | Scapuloperoneal spinal muscular atrophy +6 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2C +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia, Maroteaux type +12 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Charcot-Marie-Tooth disease +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +7 more | |
| | | Single nucleotide variant (synonymous variant) | TRPV4-related condition +9 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia, Maroteaux type +11 more | |
| | | Single nucleotide variant (missense variant) | Spondylometaphyseal dysplasia, Kozlowski type | |
| | | Single nucleotide variant (missense variant) | Parastremmatic dwarfism +11 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +13 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease +7 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +8 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Metatropic dysplasia +5 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Brachyrachia (short spine dysplasia) +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Scapuloperoneal spinal muscular atrophy +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Neuronopathy, distal hereditary motor, autosomal dominant 8 +5 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +7 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +10 more | |
| | | Single nucleotide variant (missense variant) | Scapuloperoneal spinal muscular atrophy +5 more | |
| | | Single nucleotide variant (missense variant) | Scapuloperoneal spinal muscular atrophy +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Scapuloperoneal spinal muscular atrophy +9 more | |
| | | Single nucleotide variant (intron variant) | Sodium serum level quantitative trait locus 1 +14 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +7 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Scapuloperoneal spinal muscular atrophy +8 more | |
| | | Single nucleotide variant (missense variant +1 more) | Scapuloperoneal spinal muscular atrophy +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Scapuloperoneal spinal muscular atrophy +5 more | |
| | | Single nucleotide variant (synonymous variant) | Scapuloperoneal spinal muscular atrophy +7 more | |
| | | Single nucleotide variant (intron variant) | Scapuloperoneal spinal muscular atrophy +6 more | |
| | | Single nucleotide variant (missense variant) | Neuronopathy, distal hereditary motor, autosomal dominant 8 +5 more | |
| | | Single nucleotide variant (missense variant) | Spondylometaphyseal dysplasia, Kozlowski type +5 more | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease +8 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +9 more | |
| | | Single nucleotide variant (missense variant) | Metatropic dysplasia +5 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Metatropic dysplasia +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) | 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) | Metatropic dysplasia +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) | not provided +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Scapuloperoneal spinal muscular atrophy +5 more | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease axonal type 2C +8 more | |
| | | Single nucleotide variant (intron variant) | TRPV4-related condition +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Metatropic dysplasia +8 more | |
| | | Single nucleotide variant (intron variant) | Connective tissue disorder +9 more | |
| | | Single nucleotide variant (synonymous variant) | Connective tissue disorder +10 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2C +6 more | |
| | | Single nucleotide variant (missense variant) | Familial digital arthropathy-brachydactyly +11 more | |
| | | Single nucleotide variant (missense variant) | TRPV4-related condition +8 more | |
| | | Single nucleotide variant (missense variant) | not provided +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Scapuloperoneal spinal muscular atrophy +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +8 more | |
| | | Single nucleotide variant (synonymous variant) | Metatropic dysplasia +7 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Metatropic dysplasia +8 more | |
| | | Single nucleotide variant (intron variant) | not specified +8 more | |
| | | Single nucleotide variant (missense variant) | TRPV4-related condition +10 more | |
| | | Single nucleotide variant (synonymous variant) | Spondylometaphyseal dysplasia, Kozlowski type +8 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Inborn genetic diseases +9 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +10 more | |
| | | Single nucleotide variant (missense variant) | Connective tissue disorder +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +9 more | |
| | | Single nucleotide variant (intron variant) | not provided +8 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease +10 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +9 more | GConflicting classifications of pathogenicity |