| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Aneurysm-osteoarthritis syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Loeys-Dietz syndrome +5 more | |
| | | Single nucleotide variant (synonymous variant) | Loeys-Dietz syndrome +5 more | |
| | | Single nucleotide variant (synonymous variant) | Aneurysm-osteoarthritis syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |
Click to view in NCBI Gene