| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome | |
| | | Deletion (frameshift variant) | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome | |
| | | Duplication (frameshift variant) | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome | |
| | PRG4, TPR (S1312* +4 more) | Single nucleotide variant (nonsense +1 more) | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome | |
Click to view in NCBI Gene