| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | not specified +4 more | |
| | | Deletion (frameshift variant) | Aortic valve disease 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Holt-Oram syndrome +5 more | |
| | | Single nucleotide variant (missense variant) | Holt-Oram syndrome +4 more | |
Click to view in NCBI Gene