Links from MedGen
Items: 7
| Variation | | Type (Consequence) | Condition | Classification, Review status |
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| | | Single nucleotide variant (missense variant) | BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II | |
| | | Microsatellite (inframe_insertion) | Blepharophimosis, ptosis, and epicanthus inversus syndrome +1 more | |
| | | Single nucleotide variant (nonsense) | Premature ovarian failure 3 +1 more | |
| | | Deletion (frameshift variant) | BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II +1 more | |
| | | Duplication (frameshift variant) | not provided +1 more | |
| | | Duplication (inframe_insertion) | BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II +1 more | GPathogenic/Likely pathogenic |
| | | Duplication (inframe_insertion) | not provided +1 more | |
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