| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Deletion (inframe_deletion) | Oculofaciocardiodental syndrome | |
| | | Single nucleotide variant (missense variant) | BCOR-related condition +3 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene