Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Hydrops fetalis +6 more | |
| | | Single nucleotide variant (missense variant) | Right ventricular hypertrophy +8 more | |
| | | Deletion (nonsense) | Cornelia de Lange syndrome 1 +9 more | |
| | | Single nucleotide variant (missense variant) | Primary pulmonary hypertension +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | RASopathy | |
Click to view in NCBI Gene