| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome | GConflicting classifications of pathogenicity |
| | | Microsatellite (frameshift variant) | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome | |
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