| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Leucine-induced hypoglycemia +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Type 2 diabetes mellitus +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Transitory neonatal diabetes mellitus +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Diabetes mellitus +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +8 more | GConflicting classifications of pathogenicity |
| | | Copy number gain | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Deletion | Intellectual disability | |
Click to view in NCBI Gene