Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | HOXA11, LOC107126281 (P151T) | Single nucleotide variant (missense variant) | Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 | |
| | HOXA11, LOC107126281 (R132S) | Single nucleotide variant (missense variant) | Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 | |
| | | Deletion (frameshift variant) | Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 | |
Click to view in NCBI Gene