Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC126859690, PKHD1 (V1695fs) | Duplication (frameshift variant) | Polycystic kidney disease +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +10 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Autosomal recessive polycystic kidney disease +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +13 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene