| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 | |
| | | Deletion (inframe_indel) | Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 | |
| | | Single nucleotide variant (intron variant) | Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 | |
Click to view in NCBI Gene