| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | Nephronophthisis +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Nephronophthisis +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene