Links from MedGen
Items: 10
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | 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 | |
| | | Single nucleotide variant (nonsense) | Ciliary dyskinesia, primary, 47, and lissencephaly | |
| | | Single nucleotide variant (missense variant +1 more) | Atrial septal defect +11 more | |
| | | Single nucleotide variant (nonsense) | Atrial septal defect +11 more | |
| | | Single nucleotide variant (missense variant) | Respiratory failure +1 more | |
| | | Single nucleotide variant (missense variant) | Neural tube defect +18 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 2 +22 more | GConflicting classifications of pathogenicity; risk factor |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +19 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene