| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | BCOR, LOC126863239 (S209L) | Single nucleotide variant (missense variant) | Oculofaciocardiodental syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Oculofaciocardiodental syndrome +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene