| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | BCOR, LOC126863239 (H360Y) | Single nucleotide variant (missense variant) | Oculofaciocardiodental syndrome +2 more | |
| | BCOR, LOC126863239 (A161V) | Single nucleotide variant (missense variant) | Oculofaciocardiodental syndrome +2 more | |
| | LOC126863239, BCOR (V137I) | Single nucleotide variant (missense variant) | Oculofaciocardiodental syndrome +2 more | |
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