| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant +1 more) | Infantile nephronophthisis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Infantile nephronophthisis +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Infantile nephronophthisis | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Infantile nephronophthisis | |
| | | Duplication (frameshift variant +1 more) | Nephronophthisis +3 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene