| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Alveolar capillary dysplasia with pulmonary venous misalignment | |
| | | Microsatellite (frameshift variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Alveolar capillary dysplasia with pulmonary venous misalignment +1 more | |
| | | Deletion (frameshift variant) | Alveolar capillary dysplasia with pulmonary venous misalignment | |
| | | Deletion (frameshift variant) | Alveolar capillary dysplasia with pulmonary venous misalignment | |
Click to view in NCBI Gene