NM_005327.7(HADH):c.262-2A>GLikely pathogenic
Deficiency of 3-hydroxyacyl-CoA dehydrogenase|Deficiency of 3-hydroxyacyl-CoA dehydrogenase;Hyperinsulinemic hypoglycemia, familial, 4
β
β
ββ2026
NM_005327.7(HADH):c.100G>C (p.Gly34Arg)Likely pathogenic
Deficiency of 3-hydroxyacyl-CoA dehydrogenase|Hyperinsulinemic hypoglycemia, familial, 4|Hyperinsulinemic hypoglycemia|Familial hyperinsulinism
β
β
ββ2025β Residue 34
NM_005327.7(HADH):c.706C>T (p.Arg236Ter)Pathogenic
Hyperinsulinemic hypoglycemia, familial, 4|not provided|Deficiency of 3-hydroxyacyl-CoA dehydrogenase
β
β
ββ2025β Residue 236
NM_005327.7(HADH):c.203dup (p.Ile70fs)Pathogenic
not provided|Deficiency of 3-hydroxyacyl-CoA dehydrogenase
β
β
ββ2025β Residue 70
NM_005327.7(HADH):c.587del (p.Ser196fs)Pathogenic
Deficiency of 3-hydroxyacyl-CoA dehydrogenase|Hyperinsulinemic hypoglycemia, familial, 4
β
β
ββ2024β Residue 196
NM_005327.7(HADH):c.709+2T>CLikely pathogenic
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
β
β
ββ2023
NM_005327.7(HADH):c.261+1G>APathogenic
Deficiency of 3-hydroxyacyl-CoA dehydrogenase|Hyperinsulinemic hypoglycemia, familial, 4|Hyperinsulinemic hypoglycemia
β
β
ββ2021
Single allelePathogenic
Hyperinsulinemic hypoglycemia, familial, 4
β
βββ2025
NM_005327.7(HADH):c.776_779del (p.Phe259fs)Pathogenic
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
β
βββ2025β Residue 259
NM_005327.7(HADH):c.854del (p.Pro285fs)Pathogenic
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
β
βββ2025β Residue 285
NM_005327.7(HADH):c.859del (p.His287fs)Pathogenic
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
β
βββ2025β Residue 287
NM_005327.7(HADH):c.132+1G>ALikely pathogenic
Deficiency of 3-hydroxyacyl-CoA dehydrogenase;Hyperinsulinemic hypoglycemia, familial, 4
β
βββ2024
NM_005327.7(HADH):c.710-1G>ALikely pathogenic
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
β
βββ2024
NM_005327.7(HADH):c.271G>T (p.Glu91Ter)Likely pathogenic
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
β
βββ2024β Residue 91
NM_005327.7(HADH):c.261+2T>ALikely pathogenic
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
β
βββ2023
NM_005327.7(HADH):c.424dup (p.Thr142fs)Likely pathogenic
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
β
βββ2023β Residue 142
NM_005327.7(HADH):c.636+2T>CLikely pathogenic
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
β
βββ2023
NM_005327.7(HADH):c.664_668del (p.Leu222fs)Pathogenic
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
β
βββ2023β Residue 222
NM_005327.7(HADH):c.304_307dup (p.Ser103fs)Pathogenic
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
β
βββ2023β Residue 103
NM_005327.7(HADH):c.130C>T (p.Gln44Ter)Likely pathogenic
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
β
βββ2023β Residue 44