| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (splice donor variant) | Polycystic kidney disease 2 +3 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant +1 more) | not provided +1 more | |
| | | Deletion (frameshift variant +1 more) | PKD2-related disorder +3 more | |
Click to view in NCBI Gene