| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | DCDC2-related disorder +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Nephronophthisis 19 | |
| | | Deletion (frameshift variant) | Isolated neonatal sclerosing cholangitis | |
Click to view in NCBI Gene