| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Duplication (frameshift variant) | Blepharophimosis, ptosis, and epicanthus inversus syndrome | |
| | | Duplication (frameshift variant) | FOXL2-related disorder +3 more | GPathogenic/Likely pathogenic |
| | | Indel (inframe_indel) | Blepharophimosis, ptosis, and epicanthus inversus syndrome | |
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