| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Oculofaciocardiodental syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital cerebellar hypoplasia +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Oculofaciocardiodental syndrome | |
| | LOC126863239, BCOR (M217I) | Single nucleotide variant (missense variant) | Oculofaciocardiodental syndrome | |
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