| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | Blepharophimosis, ptosis, and epicanthus inversus syndrome | |
| | | Duplication (frameshift variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Indel (inframe_indel) | Blepharophimosis, ptosis, and epicanthus inversus syndrome | |
Click to view in NCBI Gene