| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant) | Ascending aortic dissection | |
| | | Single nucleotide variant (intron variant) | Ascending aortic dissection | |
| | | Single nucleotide variant (intron variant) | Ascending aortic dissection | |
| | | Single nucleotide variant (intron variant) | Ascending aortic dissection | |
| | | Copy number loss | Imperforate anus | |
Click to view in NCBI Gene