| | | Single nucleotide variant (missense variant) | Clubfoot | |
| | | Single nucleotide variant (missense variant) | Clubfoot | |
| | | Single nucleotide variant (missense variant) | Clubfoot | |
| | | Single nucleotide variant (missense variant) | Polyhydramnios +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) | Isolated Pierre-Robin syndrome +4 more | |
| | | Single nucleotide variant (splice donor variant) | Isolated Pierre-Robin syndrome +4 more | |
| | | Deletion (frameshift variant) | Clubfoot | |
| | | Single nucleotide variant (missense variant) | Brachydactyly-elbow wrist dysplasia syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Clubfoot | |
| | | Single nucleotide variant (nonsense) | Abnormal finger morphology +4 more | |
| | | Deletion (frameshift variant) | Severe hydrocephalus +2 more | |
| | | Single nucleotide variant (splice donor variant) | Severe hydrocephalus +2 more | |
| | | Single nucleotide variant (missense variant) | Clubfoot | |
| | | Single nucleotide variant (missense variant) | Macroglossia +14 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Clubfoot +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Progressive distal muscular atrophy +7 more | |
| | | Single nucleotide variant (splice donor variant) | not provided +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hyperechogenic kidneys +3 more | |
| | | Deletion (frameshift variant) | Bilateral talipes equinovarus +9 more | |
| | | Single nucleotide variant (nonsense) | Bruck syndrome 2 +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 | Seizure +9 more | |
| | | Translocation | Abnormal emotion +6 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Alkuraya-Kucinskas syndrome | |
| | | Single nucleotide variant (missense variant) | Sacral defect with anterior meningocele +18 more | GConflicting classifications of pathogenicity |
| | | Deletion (splice donor variant) | Meckel syndrome, type 6 +17 more | |
| | | Deletion (frameshift variant) | Clubfoot | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Malignant hyperthermia, susceptibility to, 1 +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Clubfoot | |
| | | Single nucleotide variant (missense variant) | TNFRSF13B-related disorder +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) | INPP5E-related disorder +20 more | GPathogenic/Likely pathogenic |