| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Renal cysts and diabetes syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (nonsense) | Renal cysts and diabetes syndrome | |
| | | Deletion (frameshift variant) | Renal cysts and diabetes syndrome | |
| | | Single nucleotide variant (nonsense) | Type 2 diabetes mellitus +4 more | |
| | | Single nucleotide variant (splice donor variant) | HNF1B-related disorder +2 more | |
| | | Single nucleotide variant (splice donor variant) | Type 2 diabetes mellitus +3 more | |
| | | Single nucleotide variant (nonsense) | Type 2 diabetes mellitus +3 more | |
| | | Single nucleotide variant (missense variant) | Type 2 diabetes mellitus +4 more | GPathogenic/Likely pathogenic |
| | | Deletion (inframe_deletion) | Renal cysts and diabetes syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Deletion (frameshift variant) | Renal cysts and diabetes syndrome | |
| | | Duplication | Renal cysts and diabetes syndrome | |
| | | Deletion | Renal cysts and diabetes syndrome | |
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