Links from Orgtrack
Items: 11
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Osteogenesis imperfecta type 9 | |
| | | Deletion (frameshift variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type 9 | |
| | | Single nucleotide variant (nonsense +2 more) | Osteogenesis imperfecta type 9 | |
| | | Deletion (frameshift variant +2 more) | Osteogenesis imperfecta +1 more | |
Click to view in NCBI Gene