| | | Deletion (frameshift variant) | Polycystic kidney disease, adult type | |
| | | Single nucleotide variant (missense variant) | Polycystic kidney disease, adult type | |
| | PKD1, PKD1-AS1 (G3783V +1 more) | Single nucleotide variant (missense variant) | Polycystic kidney disease, adult type | |
| | | Microsatellite (inframe_insertion) | Polycystic kidney disease, adult type | |
| | PKD1, PKD1-AS1 (D3782fs +1 more) | Duplication (frameshift variant) | not provided +1 more | |
| | PKD1, PKD1-AS1 (L3609S +1 more) | Single nucleotide variant (missense variant) | Polycystic kidney disease, adult type | |
| | PKD1, PKD1-AS1 (S3590F +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | PKD1, PKD1-AS1 (R3514fs +1 more) | Duplication (frameshift variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (nonsense) | Polycystic kidney disease, adult type | |
| | | Duplication (frameshift variant) | Polycystic kidney disease, adult type | |
| | | Single nucleotide variant (splice acceptor variant) | Polycystic kidney disease, adult type | |
| | | Single nucleotide variant (missense variant) | Polycystic kidney disease, adult type | |
| | | Single nucleotide variant (missense variant) | Polycystic kidney disease, adult type | |
| | | Single nucleotide variant (missense variant) | Polycystic kidney disease, adult type | |
| | | Single nucleotide variant (missense variant) | Polycystic kidney disease, adult type | |
| | | Deletion (frameshift variant) | Polycystic kidney disease, adult type | |
| | | Single nucleotide variant (intron variant) | Polycystic kidney disease, adult type | |
| | | Deletion (frameshift variant) | not provided +1 more | |
| | | Indel (inframe_insertion) | Polycystic kidney disease, adult type | |
| | | Single nucleotide variant (missense variant) | Polycystic kidney disease, adult type | |
| | | Duplication (frameshift variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Polycystic kidney disease, adult type +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | Polycystic kidney disease, adult type | |
| | | Single nucleotide variant (missense variant) | Polycystic kidney disease, adult type | |
| | | Deletion (frameshift variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Polycystic kidney disease, adult type | |
| | | Single nucleotide variant (missense variant) | Polycystic kidney disease, adult type | |
| | | Single nucleotide variant (missense variant) | PKD1-related condition +1 more | |
| | | Single nucleotide variant (missense variant) | Polycystic kidney disease, adult type | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Deletion (frameshift variant) | Polycystic kidney disease, adult type | |
| | | Single nucleotide variant (missense variant) | Polycystic kidney disease, adult type | |
| | | Single nucleotide variant (missense variant) | Polycystic kidney disease, adult type | |
| | | Duplication (frameshift variant) | Polycystic kidney disease, adult type | |
| | | Deletion (frameshift variant) | Polycystic kidney disease, adult type | |
| | | Microsatellite (frameshift variant) | Polycystic kidney disease, adult type | |
| | | Single nucleotide variant (missense variant) | Polycystic kidney disease, adult type +1 more | |
| | | Duplication (frameshift variant) | Polycystic kidney disease, adult type | |
| | | Single nucleotide variant (missense variant) | Polycystic kidney disease, adult type | |
| | | Deletion (frameshift variant) | Polycystic kidney disease, adult type | |
| | | Single nucleotide variant (missense variant) | Polycystic kidney disease, adult type | |
| | | Single nucleotide variant (nonsense) | Polycystic kidney disease, adult type | |
| | | Single nucleotide variant (missense variant) | Polycystic kidney disease, adult type | |
| | | Deletion (frameshift variant) | Polycystic kidney disease, adult type | |
| | | Duplication (frameshift variant) | Polycystic kidney disease, adult type | |
| | | Deletion (inframe_deletion) | Polycystic kidney disease, adult type | |
| | | Duplication (frameshift variant) | Polycystic kidney disease, adult type | |
| | | Deletion (frameshift variant) | Polycystic kidney disease, adult type | |
| | | Single nucleotide variant (missense variant) | Polycystic kidney disease, adult type | |
| | | Single nucleotide variant (missense variant) | Polycystic kidney disease, adult type | |
| | | Single nucleotide variant (missense variant) | Polycystic kidney disease, adult type | |
| | | Microsatellite (frameshift variant) | PKD1-related condition +1 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (inframe_deletion) | Polycystic kidney disease, adult type | |
| | | Single nucleotide variant (missense variant) | Polycystic kidney disease, adult type | |
| | | Deletion (frameshift variant) | Polycystic kidney disease, adult type | |
| | | Single nucleotide variant (missense variant) | Polycystic kidney disease, adult type | |
| | | Single nucleotide variant (synonymous variant) | Polycystic kidney disease, adult type | |
| | | Deletion (frameshift variant) | Polycystic kidney disease, adult type | |
| | | Microsatellite (frameshift variant) | Polycystic kidney disease, adult type | |