| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Ehlers-Danlos syndrome, arthrochalasia type +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Osteogenesis imperfecta +9 more | |
Click to view in NCBI Gene