| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (nonsense) | Osteogenesis imperfecta type 12 +1 more | |
| | | Deletion (frameshift variant) | Osteogenesis imperfecta type 12 +1 more | |
| | | Deletion (5 prime UTR variant +1 more) | Osteogenesis imperfecta type 12 +1 more | |
Click to view in NCBI Gene