| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Deletion (frameshift variant +1 more) | Retinitis pigmentosa 28 +1 more | GPathogenic/Likely pathogenic |
| | | Copy number gain | Macrocephaly +2 more | |
| | | Copy number gain | Dolichocephaly +3 more | |
Click to view in NCBI Gene