| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant +1 more) | Blepharophimosis - intellectual disability syndrome, SBBYS type | |
| | | Deletion (frameshift variant +1 more) | Blepharophimosis - intellectual disability syndrome, SBBYS type | |
| | | Single nucleotide variant (nonsense) | Blepharophimosis - intellectual disability syndrome, SBBYS type | |
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