| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (intron variant) | Osteoporosis +3 more | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta with normal sclerae, dominant form +12 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Malignant hyperthermia, susceptibility to, 1 +5 more | |
Click to view in NCBI Gene