| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +9 more | |
| | | Single nucleotide variant (missense variant) | Inguinal hernia +12 more | |
| | | Deletion (frameshift variant) | Cutis laxa +9 more | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta with normal sclerae, dominant form +12 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene