| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type 10 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Osteogenesis imperfecta type 10 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Osteogenesis imperfecta type 10 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Indel (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type 10 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Osteogenesis imperfecta +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | |
Click to view in NCBI Gene