| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC101927521, GREB1L (G185S) | Single nucleotide variant (missense variant) | Mayer-Rokitansky-Küster-Hauser syndrome type 2 | |
| | GREB1L, LOC101927521 (R192Q) | Single nucleotide variant (missense variant) | Mayer Rokitansky Kuster Hauser syndrome type 1 | |
| | GREB1L, LOC101927521 (D520N +1 more) | Single nucleotide variant (missense variant) | Mayer-Rokitansky-Küster-Hauser syndrome type 2 | |
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