| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome | |
| | | Microsatellite (frameshift variant) | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene