NM_000352.6(ABCC8):c.4544C>T (p.Thr1515Met)Pathogenic
not provided|Type 2 diabetes mellitus|Diabetes mellitus, transient neonatal, 2;Type 2 diabetes mellitus;Hyperinsulinemic hypoglycemia, familial, 1;Leucine-induced hypoglycemia;Diabetes mellitus, permanent neonatal 3|Maturity-onset diabetes of the young|Maturity-onset diabetes of the young, type 12
★★☆☆2026→ Residue 1515
NM_000352.6(ABCC8):c.2041-21G>APathogenic
Hyperinsulinemic hypoglycemia, familial, 1|not provided|Type 2 diabetes mellitus|Inborn genetic diseases|Leucine-induced hypoglycemia;Type 2 diabetes mellitus;Diabetes mellitus, transient neonatal, 2;Diabetes mellitus, permanent neonatal 3;Hyperinsulinemic hypoglycemia, familial, 1|Leucine-induced hypoglycemia;Hyperinsulinemic hypoglycemia, familial, 1|Hereditary hyperinsulinism
★★☆☆2026
NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del)Pathogenic
Hyperinsulinemic hypoglycemia, familial, 1|not provided|Familial hyperinsulinism|Hereditary hyperinsulinism|Maturity-onset diabetes of the young|ABCC8-related disorder|Type 2 diabetes mellitus|Hyperinsulinemic hypoglycemia, familial, 1;Leucine-induced hypoglycemia;Diabetes mellitus, permanent neonatal 3;Diabetes mellitus, transient neonatal, 2;Type 2 diabetes mellitus
★★☆☆2026→ Residue 1387
NM_000352.6(ABCC8):c.1332G>T (p.Gln444His)Pathogenic
not provided|Hereditary hyperinsulinism|Leucine-induced hypoglycemia;Diabetes mellitus, transient neonatal, 2;Hyperinsulinemic hypoglycemia, familial, 1;Type 2 diabetes mellitus;Diabetes mellitus, permanent neonatal 3|Type 2 diabetes mellitus|See cases|Hyperinsulinemic hypoglycemia, familial, 1
★★☆☆2026→ Residue 444
NM_000352.6(ABCC8):c.3989-9G>APathogenic
Hyperinsulinemic hypoglycemia, familial, 1|not provided|Familial hyperinsulinism|Inborn genetic diseases|Hereditary hyperinsulinism|Hyperinsulinemic hypoglycemia, familial, 1;Diabetes mellitus, permanent neonatal 3|Type 2 diabetes mellitus|ABCC8-related disorder|Hyperinsulinemic hypoglycemia, familial, 1;Leucine-induced hypoglycemia|Hyperinsulinemic hypoglycemia, familial, 1;Leucine-induced hypoglycemia;Type 2 diabetes mellitus;Diabetes mellitus, transient neonatal, 2;Diabetes mellitus, permanent neonatal 3
★★☆☆2026
NM_000352.6(ABCC8):c.3988+2T>CPathogenic
not provided|Hyperinsulinemic hypoglycemia, familial, 1|Type 2 diabetes mellitus|Hereditary hyperinsulinism|Diabetes mellitus, transient neonatal, 2;Diabetes mellitus, permanent neonatal 3;Hyperinsulinemic hypoglycemia, familial, 1;Leucine-induced hypoglycemia;Type 2 diabetes mellitus
★★☆☆2026
NM_000352.6(ABCC8):c.3868-1G>APathogenic
Hyperinsulinemic hypoglycemia, familial, 1|not provided|Maturity-onset diabetes of the young|Neonatal diabetes mellitus|Type 2 diabetes mellitus|Familial hyperinsulinism|Leucine-induced hypoglycemia;Diabetes mellitus, transient neonatal, 2;Type 2 diabetes mellitus;Hyperinsulinemic hypoglycemia, familial, 1;Diabetes mellitus, permanent neonatal 3|Hereditary hyperinsulinism
★★☆☆2026
NM_000352.6(ABCC8):c.4258C>T (p.Arg1420Cys)Pathogenic
Hyperinsulinemic hypoglycemia, familial, 1|not provided|Hereditary hyperinsulinism|Type 2 diabetes mellitus|Hyperinsulinemic hypoglycemia, familial, 1;Leucine-induced hypoglycemia;Type 2 diabetes mellitus;Diabetes mellitus, transient neonatal, 2;Diabetes mellitus, permanent neonatal 3
★★☆☆2026→ Residue 1420
NM_000352.6(ABCC8):c.4477C>T (p.Arg1493Trp)Pathogenic
Hyperinsulinemic hypoglycemia, familial, 1|not provided|Hereditary hyperinsulinism|Type 2 diabetes mellitus|Diabetes mellitus, transient neonatal, 2|Hyperinsulinemic hypoglycemia, familial, 1;Leucine-induced hypoglycemia;Type 2 diabetes mellitus;Diabetes mellitus, transient neonatal, 2;Diabetes mellitus, permanent neonatal 3
★★☆☆2026→ Residue 1493
NM_000352.6(ABCC8):c.4628T>C (p.Leu1543Pro)Pathogenic
Hyperinsulinemic hypoglycemia, familial, 1|not provided|Hereditary hyperinsulinism|Hyperinsulinemic hypoglycemia, familial, 1;Diabetes mellitus, transient neonatal, 2;Diabetes mellitus, permanent neonatal 3;Leucine-induced hypoglycemia;Type 2 diabetes mellitus|Type 2 diabetes mellitus|ABCC8-related disorder
★★☆☆2026→ Residue 1543
NM_000352.6(ABCC8):c.1576C>T (p.Arg526Cys)Pathogenic
Hyperinsulinemic hypoglycemia, familial, 1|not provided|Leucine-induced hypoglycemia;Type 2 diabetes mellitus;Diabetes mellitus, transient neonatal, 2;Diabetes mellitus, permanent neonatal 3;Hyperinsulinemic hypoglycemia, familial, 1|Familial hyperinsulinism|Type 2 diabetes mellitus|Hereditary hyperinsulinism
★★☆☆2026→ Residue 526
NM_000352.6(ABCC8):c.4253G>A (p.Arg1418His)Pathogenic
Hyperinsulinemic hypoglycemia, familial, 1|not provided|Hyperinsulinemic hypoglycemia, familial, 1;Leucine-induced hypoglycemia;Type 2 diabetes mellitus;Diabetes mellitus, transient neonatal, 2;Diabetes mellitus, permanent neonatal 3|Type 2 diabetes mellitus|Hereditary hyperinsulinism
★★☆☆2026→ Residue 1418
NM_000352.6(ABCC8):c.4369G>A (p.Ala1457Thr)Pathogenic
Hyperinsulinemic hypoglycemia, familial, 1|not provided
★★☆☆2026→ Residue 1457
NM_000352.6(ABCC8):c.2693G>A (p.Trp898Ter)Pathogenic
Familial hyperinsulinism|not provided|Hereditary hyperinsulinism|Hyperinsulinemic hypoglycemia, familial, 1|Type 2 diabetes mellitus|ABCC8-related disorder|Diabetes mellitus, transient neonatal, 2;Diabetes mellitus, permanent neonatal 3;Hyperinsulinemic hypoglycemia, familial, 1;Leucine-induced hypoglycemia;Type 2 diabetes mellitus
★★☆☆2026→ Residue 898
NM_000352.6(ABCC8):c.4412-13G>APathogenic
Hyperinsulinemic hypoglycemia, familial, 1|not provided|Hereditary hyperinsulinism|Type 2 diabetes mellitus|Familial hyperinsulinism
★★☆☆2025
NM_000352.6(ABCC8):c.4307G>A (p.Arg1436Gln)Pathogenic
Hyperinsulinemic hypoglycemia, familial, 1|not provided|Familial hyperinsulinism|Hereditary hyperinsulinism|Type 2 diabetes mellitus
★★☆☆2025→ Residue 1436
NM_000352.6(ABCC8):c.3509del (p.Leu1170fs)Pathogenic
Hyperinsulinemic hypoglycemia, familial, 1|not provided|Familial hyperinsulinism|Hereditary hyperinsulinism|Hyperinsulinemic hypoglycemia, familial, 1;Leucine-induced hypoglycemia;Diabetes mellitus, permanent neonatal 3;Diabetes mellitus, transient neonatal, 2;Type 2 diabetes mellitus|Type 2 diabetes mellitus
★★☆☆2025→ Residue 1170
NM_000352.6(ABCC8):c.683G>A (p.Gly228Asp)Pathogenic
not provided|Familial hyperinsulinism|Hyperinsulinemic hypoglycemia, familial, 1|Maturity-onset diabetes of the young|Type 2 diabetes mellitus|Hyperinsulinemic hypoglycemia, familial, 1;Type 2 diabetes mellitus;Diabetes mellitus, permanent neonatal 3;Diabetes mellitus, transient neonatal, 2;Leucine-induced hypoglycemia|Hereditary hyperinsulinism
★★☆☆2025→ Residue 228
NM_000352.6(ABCC8):c.331G>A (p.Gly111Arg)Pathogenic
Hyperinsulinemic hypoglycemia, familial, 1|not provided|Familial hyperinsulinism|Type 2 diabetes mellitus|Diabetes mellitus, permanent neonatal 3;Diabetes mellitus, transient neonatal, 2;Hyperinsulinemic hypoglycemia, familial, 1;Leucine-induced hypoglycemia;Type 2 diabetes mellitus|Hereditary hyperinsulinism
★★☆☆2025→ Residue 111
NM_000352.6(ABCC8):c.2921-9G>APathogenic
Hyperinsulinemic hypoglycemia, familial, 1|Hereditary hyperinsulinism|not provided|Type 2 diabetes mellitus|Familial hyperinsulinism|Diabetes mellitus, transient neonatal, 2;Hyperinsulinemic hypoglycemia, familial, 1;Leucine-induced hypoglycemia;Diabetes mellitus, permanent neonatal 3;Type 2 diabetes mellitus
★★☆☆2025