| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa +4 more | GConflicting classifications of pathogenicity |
| | | Copy number gain | Distal 16p11.2 microdeletion syndrome | |
| | | Deletion | Intellectual disability | |
Click to view in NCBI Gene