| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (splice acceptor variant) | Renal-hepatic-pancreatic dysplasia 1 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Nephronophthisis +3 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene