| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (inframe_deletion +1 more) | Aortic valve disease 2 +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | SMAD6-related disorder +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Aortic valve disease 2 +1 more | |
| | | Deletion (intron variant) | not specified +2 more | |
Click to view in NCBI Gene