Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Cerebellar, ocular, craniofacial, and genital syndrome | |
| | | Deletion (frameshift variant +1 more) | Cerebellar, ocular, craniofacial, and genital syndrome | |
| | | Deletion (frameshift variant +1 more) | Cerebellar, ocular, craniofacial, and genital syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Cerebellar, ocular, craniofacial, and genital syndrome | |
| | | Duplication (frameshift variant +1 more) | Cerebellar, ocular, craniofacial, and genital syndrome | |
Click to view in NCBI Gene