| | | Deletion (frameshift variant +1 more) | Polycystic kidney disease 2 | |
| | | Duplication (nonsense +1 more) | Polycystic kidney disease 2 | |
| | | Indel (missense variant +1 more) | Polycystic kidney disease 2 | |
| | | Duplication (frameshift variant +1 more) | Polycystic kidney disease 2 | |
| | LOC129992813, PKD2 (E106fs) | Deletion (frameshift variant +1 more) | Polycystic kidney disease 2 | |
| | | Indel (frameshift variant +1 more) | Polycystic kidney disease 2 | |
| | | Single nucleotide variant (splice donor variant) | Polycystic kidney disease 2 | |
| | | Single nucleotide variant (missense variant) | Polycystic kidney disease 2 | |
| | | Deletion (frameshift variant +1 more) | Polycystic kidney disease 2 | |
| | | Duplication (nonsense +1 more) | Polycystic kidney disease 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Polycystic kidney disease 2 | |
| | | Duplication (inframe_insertion +1 more) | Polycystic kidney disease 2 | |
| | | Deletion (splice acceptor variant) | Polycystic kidney disease 2 | |
| | | Single nucleotide variant (missense variant) | Polycystic kidney disease 2 | |
| | | Single nucleotide variant (splice acceptor variant) | Polycystic kidney disease 2 | |
| | | Deletion (frameshift variant +1 more) | Polycystic kidney disease 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Polycystic kidney disease 2 | |
| | | Deletion (inframe_indel +1 more) | Polycystic kidney disease 2 | |
| | | Duplication (frameshift variant +1 more) | Polycystic kidney disease 2 | |
| | LOC129992813, PKD2 (S129W) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +3 more | |
| | | Deletion | Polycystic kidney disease 2 | |
| | | Single nucleotide variant (splice donor variant) | Polycystic kidney disease 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Polycystic kidney disease 2 | |
| | | Deletion (inframe_deletion +1 more) | Polycystic kidney disease 2 | |
| | | Microsatellite (frameshift variant +1 more) | not provided +1 more | |
| | | Deletion (frameshift variant +1 more) | Polycystic kidney disease 2 | |
| | | Single nucleotide variant (nonsense +1 more) | Polycystic kidney disease 2 | |
| | | Single nucleotide variant (nonsense +1 more) | Polycystic kidney disease 2 | |
| | | Deletion (splice donor variant) | Polycystic kidney disease 2 | |
| | | Deletion (frameshift variant +1 more) | Polycystic kidney disease 2 | |
| | | Deletion | Polycystic kidney disease 2 | |
| | | Deletion (frameshift variant +1 more) | Polycystic kidney disease 2 | |
| | | Deletion (frameshift variant +1 more) | Polycystic kidney disease 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Polycystic kidney disease 2 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal dominant polycystic kidney disease +1 more | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant polycystic kidney disease +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant polycystic kidney disease +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant polycystic kidney disease +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant polycystic kidney disease +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant polycystic kidney disease +1 more | |
| | | Single nucleotide variant (missense variant) | 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 +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | Autosomal dominant polycystic kidney disease +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant polycystic kidney disease +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant polycystic kidney disease +1 more | |
| | | Single nucleotide variant (missense variant) | Polycystic kidney disease 2 +1 more | |
| | | 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 | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant polycystic kidney disease +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant polycystic kidney disease +1 more | |
| | LOC129992813, PKD2 (D14fs) | Deletion (frameshift variant +1 more) | PKD2-related condition +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Polycystic kidney disease 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal dominant polycystic kidney disease +3 more | |
| | | Single nucleotide variant (intron variant) | Polycystic kidney disease 2 | |
| | LOC129992813, PKD2 (P162L) | Single nucleotide variant (missense variant +1 more) | Autosomal dominant polycystic kidney disease +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Multiple renal cysts +2 more | |
| | | Single nucleotide variant (missense variant) | Polycystic kidney disease 2 | |
| | | Microsatellite (frameshift variant) | Polycystic kidney disease 2 | |
| | | Duplication (non-coding transcript variant +1 more) | Autosomal dominant polycystic kidney disease +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | PKD2-related condition +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant polycystic kidney disease +1 more | |
| | | Copy number loss | Polycystic kidney disease 2 | |
| | | Duplication (frameshift variant +1 more) | not provided +1 more | |
| | LOC129992813, PKD2 (G37fs) | Deletion (frameshift variant +1 more) | Polycystic kidney disease 2 | |
| | | Single nucleotide variant (nonsense +1 more) | PKD2-related condition +2 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant +1 more) | Polycystic kidney disease 2 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal dominant polycystic kidney disease +1 more | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant polycystic kidney disease +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Polycystic kidney disease 2 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Polycystic kidney disease 2 +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Polycystic kidney disease 2 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant polycystic kidney disease +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant polycystic kidney disease +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant polycystic kidney disease +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant polycystic kidney disease +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 | |
| | | Single nucleotide variant (missense variant +1 more) | Polycystic kidney disease 2 | |
| | | Single nucleotide variant (intron variant) | Polycystic kidney disease 2 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Polycystic kidney disease 2 +2 more | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant polycystic kidney disease +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Polycystic kidney disease 2 | |
| | | Single nucleotide variant (splice donor variant) | Polycystic kidney disease 2 | |
| | LOC129992813, PKD2 (W189*) | Single nucleotide variant (nonsense +1 more) | Polycystic kidney disease 2 | |
| | | Single nucleotide variant (nonsense +1 more) | Polycystic kidney disease 2 | |
| | | Single nucleotide variant (splice donor variant) | Polycystic kidney disease 2 | |
| | | Deletion (frameshift variant) | Polycystic kidney disease 2 | |
| | | Microsatellite (inframe_deletion +1 more) | Polycystic kidney disease 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant polycystic kidney disease +2 more | GConflicting classifications of pathogenicity |
| | LOC129992813, PKD2 (S39fs) | Indel (non-coding transcript variant +1 more) | Polycystic kidney disease 2 | |
| | | Deletion (frameshift variant +1 more) | Polycystic kidney disease 2 | |
| | | Single nucleotide variant (splice donor variant) | Autosomal dominant polycystic kidney disease +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 | |
| | | Microsatellite (splice donor variant) | Polycystic kidney disease 2 | |