| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Deletion (frameshift variant) | Renal cysts and diabetes syndrome | |
| | | Single nucleotide variant (missense variant) | Congenital anomaly of kidney and urinary tract +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Renal cysts and diabetes syndrome | |
| | | Single nucleotide variant (missense variant) | Maturity onset diabetes mellitus in young +4 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene