| | | Single nucleotide variant (missense variant) | Bronchopulmonary dysplasia of newborn +9 more | |
| | | Duplication (frameshift variant +1 more) | Respiratory failure +4 more | |
| | | Single nucleotide variant (missense variant +2 more) | Respiratory failure +4 more | |
| | AP3B2, CPEB1-AS1 (K262T +1 more) | Single nucleotide variant (missense variant) | Global developmental delay +12 more | |
| | | Single nucleotide variant (missense variant) | not provided +11 more | |
| | | Single nucleotide variant (missense variant) | Obstructive sleep apnea syndrome +12 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | ACTL6A-related BAFopathy +15 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial infantile myasthenia +11 more | |
| | | Single nucleotide variant (missense variant) | Familial infantile myasthenia +11 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Brittle cornea syndrome 1 +8 more | |
| | | Single nucleotide variant (missense variant) | Brittle cornea syndrome 1 +9 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hypoglycemia +11 more | |
| | | Single nucleotide variant (missense variant) | Constrictive median neuropathy +12 more | |
| | | Single nucleotide variant (missense variant) | Abnormality of the lower limb +13 more | |
| | | Single nucleotide variant (missense variant) | Myopia +9 more | |
| | | Translocation | Gastrostomy tube feeding in infancy +6 more | |
| | | Translocation | Abnormality of the dentition +14 more | |
| | | Translocation | Tracheomalacia +3 more | |
| | | Translocation | Global developmental delay +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cutis laxa +8 more | |
| | | Single nucleotide variant (missense variant +1 more) | Permanent neonatal diabetes mellitus +5 more | |