| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC130063608, LOC130063609 +484 more | Copy number gain | See cases | |
| | | Single nucleotide variant (splice donor variant) | Premature ovarian failure 19 +3 more | GConflicting classifications of pathogenicity |
| | | Copy number gain | See cases | |
Click to view in NCBI Gene