| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC129992813, PKD2 (S129W) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +3 more | |
| | | Deletion (inframe_indel +1 more) | Polycystic kidney disease 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant polycystic kidney disease +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Polycystic kidney disease 2 | |
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