Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion | Dyskeratosis congenita +1 more | |
| | | Indel (splice donor variant) | Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies +1 more | |
| | | Single nucleotide variant (missense variant) | Pulmonary valve insufficiency +8 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene