| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided +3 more | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant +1 more) | Aortic valve disease 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Aortic valve disease 2 | |
| | | Single nucleotide variant (nonsense +1 more) | Aortic valve disease 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Aortic valve disease 2 | |
Click to view in NCBI Gene