| | | Single nucleotide variant (missense variant) | Polyhydramnios +5 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, moderate +14 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, moderate +14 more | |
| | | Single nucleotide variant (missense variant) | Disproportionate short stature +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Global developmental delay +6 more | |
| | | Single nucleotide variant (intron variant) | Decreased body weight +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ventricular septal defect +2 more | |
| | DPH2, LOC126805726 (R125C +4 more) | Single nucleotide variant (missense variant +1 more) | Ventricular septal defect +3 more | GConflicting classifications of pathogenicity |
| | DPH2, LOC126805726 (Q115* +5 more) | Single nucleotide variant (nonsense +1 more) | Ventricular septal defect +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Tricuspid atresia +1 more | |
| | | Single nucleotide variant (missense variant) | Tricuspid atresia +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Copy number loss | Ventricular septal defect +2 more | |
| | | Copy number loss | Esophageal atresia +3 more | |
| | | Complex | Seizure +3 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental delay +14 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Oto-palato-digital syndrome, type II +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Atrial septal defect +11 more | |
| | | Single nucleotide variant (nonsense) | Atrial septal defect +11 more | |
| | | Single nucleotide variant (nonsense) | Coarctation of aorta +12 more | |
| | | Single nucleotide variant (missense variant) | Coarctation of aorta +12 more | |
| | | Single nucleotide variant (missense variant) | Blepharophimosis +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +4 more | |
| | | Copy number loss | Ventriculomegaly +6 more | |
| | | Single nucleotide variant (nonsense) | Ventricular septal defect +2 more | |
| | | Single nucleotide variant (missense variant) | Abnormality of the lower limb +13 more | |
| | | Single nucleotide variant (missense variant) | Alveolar capillary dysplasia with pulmonary venous misalignment +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal dominant 16 +6 more | GConflicting classifications of pathogenicity |
| | | Translocation | Premature eruption of permanent teeth +6 more | |
| | | Inversion | Involuntary movements +3 more | |
| | | Translocation | Ventricular septal defect +3 more | |
| | | Translocation | Penile hypospadias +6 more | |
| | | Translocation | Corpus callosum, agenesis of +24 more | |
| | | Complex | Piebaldism +15 more | |
| | | Translocation | Atrial septal defect +10 more | |
| | | Single nucleotide variant (missense variant) | Microcephaly +7 more | |
| | | Deletion (frameshift variant) | Laryngeal hypoplasia +3 more | |
| | | Deletion | Multiple skeletal anomalies +3 more | |
| | | Single nucleotide variant (missense variant) | Malignant hyperthermia of anesthesia | |
| | | Single nucleotide variant (missense variant) | Cardio-facio-cutaneous syndrome +13 more | GPathogenic/Likely pathogenic |