Links from MedGen
Items: 14
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Enlarged kidney +3 more | |
| | | Deletion (splice acceptor variant) | Enlarged kidney +3 more | |
| | | Deletion (frameshift variant) | Enlarged kidney +2 more | |
| | | Duplication (frameshift variant) | Enlarged kidney +3 more | |
| | | Deletion (splice acceptor variant +1 more) | Anhydramnios +3 more | |
| | | Deletion (frameshift variant) | Enlarged kidney +3 more | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (splice donor variant) | Hyperechogenic kidneys +1 more | |
| | | Single nucleotide variant (missense variant) | Hyperechogenic kidneys +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Polycystic kidney disease +12 more | |
| | | Single nucleotide variant (missense variant) | Polycystic kidney disease +3 more | |
| | | Single nucleotide variant (splice acceptor variant) | Bardet-Biedl syndrome 14 +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Narrow chest +5 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | CEP290-related disorder +14 more | |
Click to view in NCBI Gene