Links from MedGen
Items: 12
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | Osteogenesis imperfecta type 17 | |
| | | Single nucleotide variant (synonymous variant) | Osteogenesis imperfecta type 17 +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (3 prime UTR variant +2 more) | Osteogenesis imperfecta type 17 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type 17 +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Osteogenesis imperfecta type 17 +1 more | |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta type 17 +1 more | |
| | LOC126807556, SPARC (P322R) | Single nucleotide variant (3 prime UTR variant +1 more) | Osteogenesis imperfecta type 17 | |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta type 17 +2 more | |
| | LOC126807556, SPARC (E263K +1 more) | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type 17 | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type 17 | |
Click to view in NCBI Gene