| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Polycystic kidney disease 2 | |
| | | Single nucleotide variant (nonsense +1 more) | Polycystic kidney disease | |
| | LOC129992813, PKD2 (P120fs) | Indel (frameshift variant +1 more) | Polycystic kidney disease +3 more | |
| | | Microsatellite (frameshift variant +1 more) | Elevated systolic blood pressure +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Polycystic kidney disease 2 | |
| | | Single nucleotide variant (nonsense +1 more) | Polycystic kidney disease 2 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Polycystic kidney disease 2 | |
| | | Single nucleotide variant (nonsense +1 more) | Polycystic kidney disease 2 | |
| | | Deletion (frameshift variant +1 more) | Polycystic kidney disease 2 | |
| | | Single nucleotide variant (intron variant) | Multiple renal cysts +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Polycystic kidney disease 2 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Polycystic kidney disease 2 | |
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