| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant +1 more) | Meckel-Gruber syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis 11 +10 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene