| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Indel (missense variant) | Bicuspid aortic valve +1 more | |
| | | Single nucleotide variant (splice donor variant) | Bicuspid aortic valve +1 more | |
| | | Single nucleotide variant (missense variant) | Bicuspid aortic valve +1 more | |
| | | Single nucleotide variant (nonsense) | ROBO4-related condition +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Bicuspid aortic valve +1 more | |
| | | Single nucleotide variant (missense variant) | Bicuspid aortic valve +1 more | |
| | | Single nucleotide variant (missense variant) | Bicuspid aortic valve +1 more | |
| | | Single nucleotide variant (missense variant) | Bicuspid aortic valve +1 more | |
| | | Single nucleotide variant (missense variant) | Bicuspid aortic valve +1 more | |
| | | Single nucleotide variant (missense variant) | Bicuspid aortic valve +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Bicuspid aortic valve +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Aortic valve disease 3 +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene