| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Maturity onset diabetes mellitus in young +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Permanent neonatal diabetes mellitus +8 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene