| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 +5 more | |
| | | Single nucleotide variant (splice donor variant) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Duplication (frameshift variant +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Diabetes mellitus, transient neonatal, 2 | |
| | | Duplication (frameshift variant +1 more) | Leucine-induced hypoglycemia | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +2 more | |
| | | Deletion (inframe_deletion +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (inframe_deletion +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 +1 more | GPathogenic/Likely pathogenic |
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