Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Reduced bone mineral density +4 more | |
| | | Single nucleotide variant (missense variant) | Dental crowding +19 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Reduced bone mineral density +1 more | |
| | | Translocation | Intellectual disability +7 more | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene