| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC129992813, PKD2 (G37fs) | Deletion (frameshift variant +1 more) | Polycystic kidney disease 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Polycystic kidney disease 2 +1 more | |
| | | 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 +1 more | |
| | | Microsatellite (inframe_insertion +1 more) | not provided +3 more | |
| | LOC129992813, PKD2 (R119H) | Single nucleotide variant (missense variant +1 more) | Polycystic kidney disease 2 +2 more | GConflicting classifications of pathogenicity |
| | LOC129992813, PKD2 (P162L) | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | LOC129992813, PKD2 (D172Y) | Single nucleotide variant (missense variant +1 more) | Autosomal dominant polycystic kidney disease +1 more | |
| | LOC129992813, PKD2 (W189*) | Single nucleotide variant (nonsense +1 more) | Polycystic kidney disease 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +3 more | |
| | LOC129992813, PKD2 (G196A) | Single nucleotide variant (missense variant +1 more) | Polycystic kidney disease 2 +1 more | |
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