| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Renal-hepatic-pancreatic dysplasia 2 | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis 9 | |
| | | Single nucleotide variant (synonymous variant) | Renal-hepatic-pancreatic dysplasia 2 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Renal-hepatic-pancreatic dysplasia 2 | |
Click to view in NCBI Gene