| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Hyperinsulinemic hypoglycemia +1 more | GUncertain significance/Uncertain risk allele |
| | | Single nucleotide variant (splice donor variant) | Hyperinsulinemic hypoglycemia, familial, 4 +2 more | GPathogenic/Likely pathogenic |
| | | Insertion (frameshift variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hyperinsulinemic hypoglycemia, familial, 4 | |
| | | Deletion (frameshift variant) | Deficiency of 3-hydroxyacyl-CoA dehydrogenase +1 more | GPathogenic/Likely pathogenic/Likely risk allele |
| | | Single nucleotide variant (missense variant) | Hyperinsulinemic hypoglycemia, familial, 4 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Hyperinsulinemic hypoglycemia, familial, 4 | |
| | | Single nucleotide variant (missense variant) | Deficiency of 3-hydroxyacyl-CoA dehydrogenase +1 more | |
Click to view in NCBI Gene