| | | Complex | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Deletion | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Deletion | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Deletion | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Deletion | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Single nucleotide variant (nonsense +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Duplication (frameshift variant +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 +2 more | |
| | | Single nucleotide variant (intron variant) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Single nucleotide variant (nonsense +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Single nucleotide variant (splice donor variant) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 +1 more | |
| | | Deletion (frameshift variant +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Single nucleotide variant (nonsense +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Single nucleotide variant (nonsense +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Single nucleotide variant (nonsense +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | ABCC8, LOC110121471 (E784del +3 more) | Microsatellite (inframe_deletion +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Single nucleotide variant (nonsense +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Insertion (frameshift variant +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Single nucleotide variant (splice acceptor variant) | Type 2 diabetes mellitus +1 more | |
| | | Single nucleotide variant (intron variant) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Type 2 diabetes mellitus +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Deletion (frameshift variant +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Single nucleotide variant (nonsense +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Type 2 diabetes mellitus +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Single nucleotide variant (intron variant) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Single nucleotide variant (intron variant) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Indel (frameshift variant +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Deletion (inframe_deletion +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Familial hyperinsulinism +3 more | |
| | | Single nucleotide variant (splice donor variant) | Hyperinsulinemic hypoglycemia, familial, 1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (splice donor variant) | Hyperinsulinemic hypoglycemia, familial, 1 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Diabetes mellitus, permanent neonatal 3 +1 more | |
| | | Deletion (frameshift variant +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Indel (frameshift variant +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Insertion (frameshift variant +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Insertion (frameshift variant +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Single nucleotide variant (nonsense +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Deletion (frameshift variant +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Deletion (frameshift variant +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Single nucleotide variant (nonsense +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Deletion (frameshift variant +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Deletion (frameshift variant +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Deletion (frameshift variant +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Deletion (frameshift variant +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Deletion (frameshift variant +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Deletion (frameshift variant +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Indel (frameshift variant +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Insertion (frameshift variant +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Deletion (frameshift variant +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Single nucleotide variant (nonsense +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Insertion (frameshift variant +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | ABCC8, LOC110121471 (S772* +3 more) | Single nucleotide variant (nonsense +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Deletion (frameshift variant +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Deletion (frameshift variant +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Insertion (nonsense +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Single nucleotide variant (nonsense +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Deletion (frameshift variant +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Single nucleotide variant (nonsense +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Deletion (frameshift variant +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Deletion (frameshift variant +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Deletion (frameshift variant +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Duplication (frameshift variant +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Deletion (frameshift variant +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +2 more | |
| | | Single nucleotide variant (splice donor variant) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Duplication (frameshift variant +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Diabetes mellitus, transient neonatal, 2 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Diabetes mellitus, transient neonatal, 2 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Diabetes mellitus, permanent neonatal 3 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +5 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Diabetes mellitus, transient neonatal, 2 +5 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +5 more | |
| | | Single nucleotide variant (intron variant) | Diabetes mellitus, transient neonatal, 2 +5 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Diabetes mellitus, transient neonatal, 2 +5 more | |