| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Premature ovarian failure 3 +1 more | |
| | | Microsatellite (inframe_insertion) | Blepharophimosis, ptosis, and epicanthus inversus syndrome +1 more | |
| | | Deletion (inframe_deletion) | Premature ovarian failure 3 +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene