| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder with cerebellar hypoplasia and spasticity | |
| | | Single nucleotide variant (nonsense +1 more) | Neurodevelopmental disorder with cerebellar hypoplasia and spasticity | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not specified | |
| | | Deletion (frameshift variant +1 more) | Malignant tumor of prostate | |
Click to view in NCBI Gene