| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (5 prime UTR variant) | Alveolar capillary dysplasia with pulmonary venous misalignment | |
| | | Single nucleotide variant (nonsense) | Alveolar capillary dysplasia with pulmonary venous misalignment | |
| | | Copy number gain | not provided | |
Click to view in NCBI Gene