| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Nephronophthisis 16 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Nephronophthisis 16 | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis 16 | |
| | | Deletion | Intellectual disability | |
Click to view in NCBI Gene