| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Atelosteogenesis type I | |
| | | Single nucleotide variant (missense variant) | Connective tissue disorder +4 more | |
Click to view in NCBI Gene