| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Hearing loss, autosomal dominant 80 | |
| | | Single nucleotide variant (missense variant) | Renal hypodysplasia/aplasia 3 | |
| | | Single nucleotide variant (nonsense) | Mayer Rokitansky Kuster Hauser syndrome type 1 +1 more | GPathogenic/Likely pathogenic |
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