| | | Single nucleotide variant (missense variant) | Clubfoot | |
| | | Single nucleotide variant (missense variant) | Clubfoot | |
| | | Single nucleotide variant (missense variant) | Clubfoot | |
| | | Single nucleotide variant (missense variant) | Clubfoot +5 more | |
| | | Deletion (frameshift variant) | Clubfoot | |
| | | | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | |
| | | Single nucleotide variant (missense variant) | Clubfoot | |
| | | Single nucleotide variant (missense variant) | Clubfoot +4 more | |
| | | Single nucleotide variant (splice donor variant) | Clubfoot +4 more | |
| | | Deletion (frameshift variant) | Clubfoot | |
| | | Single nucleotide variant (missense variant) | Clubfoot +1 more | |
| | | Single nucleotide variant (missense variant) | Clubfoot | |
| | | Single nucleotide variant (nonsense) | Clubfoot +4 more | |
| | | Deletion (frameshift variant) | Clubfoot +2 more | |
| | | Single nucleotide variant (splice donor variant) | Clubfoot +2 more | |
| | | Single nucleotide variant (missense variant) | Clubfoot | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental delay +14 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Clubfoot +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cryptorchidism +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Impaired vibration sensation in the lower limbs +7 more | |
| | | Single nucleotide variant (splice donor variant) | Polydactyly, postaxial, type A1 +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Polycystic kidney disease +3 more | |
| | | Deletion (frameshift variant) | Joint hypermobility +9 more | |
| | | Single nucleotide variant (nonsense) | not provided +10 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +3 more | |
| | | Complex | Clubfoot +9 more | |
| | | Translocation | Clubfoot +6 more | |
| | | Single nucleotide variant (missense variant) | Narrow chest +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Alkuraya-Kucinskas syndrome +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Clubfoot +18 more | GConflicting classifications of pathogenicity |
| | | Deletion (splice donor variant) | Familial aplasia of the vermis +17 more | |
| | | Deletion (frameshift variant) | Clubfoot | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Central core myopathy +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Clubfoot | |
| | | Single nucleotide variant (missense variant) | TNFRSF13B-related condition +23 more | GConflicting classifications of pathogenicity; risk factor |
| | | Single nucleotide variant (splice donor variant) | Gout +15 more | |
| | | Indel (intron variant) | Gout +14 more | |
| | | Single nucleotide variant (missense variant) | Skeletal dysplasia +20 more | GPathogenic/Likely pathogenic |