| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Nephronophthisis +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Joubert syndrome with renal defect +7 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Senior-Loken syndrome 1 +5 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +5 more | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis +6 more | |
Click to view in NCBI Gene