| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (frameshift variant) | Blepharophimosis, ptosis, and epicanthus inversus syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Blepharophimosis, ptosis, and epicanthus inversus syndrome | |
| | | Single nucleotide variant (nonsense) | Blepharophimosis, ptosis, and epicanthus inversus syndrome | |
| | | Single nucleotide variant (missense variant) | Blepharophimosis, ptosis, and epicanthus inversus syndrome | |
| | | Single nucleotide variant (nonsense) | Blepharophimosis, ptosis, and epicanthus inversus syndrome | |
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