| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Connective tissue dysplasia +11 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Connective tissue disorder +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Marfan syndrome | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Marfan syndrome | GPathogenic/Likely pathogenic |
| | | Indel (frameshift variant) | Marfan syndrome | |
Click to view in NCBI Gene