| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Ovarian dysgenesis 5 +1 more | |
| | | Single nucleotide variant (missense variant) | Genetic non-acquired premature ovarian failure | |
| | KCNT1, LOC130002976
+1 more | Insertion (genic upstream transcript variant) | not provided | |
| | | Copy number gain | See cases | |
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