Links from MedGen
Items: 9
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type 5 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type 5 +2 more | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type 5 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Osteogenesis imperfecta type 5 +3 more | |
Click to view in NCBI Gene