ClinVar Miner

List of variants in gene GCK reported as likely pathogenic for hyperinsulinism

Included ClinVar conditions (31):

Atopic eczema; Hypertrichosis; Hypoglycemia; Hyperinsulinemia
Autosomal dominant hyperinsulinism due to SUR1 deficiency
Congenital isolated hyperinsulinism
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
Deficiency of 3-hydroxyacyl-CoA dehydrogenase; Hyperinsulinemic hypoglycemia, familial, 4
Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Type 2 diabetes mellitus; Diabetes mellitus, permanent neonatal 3
Diabetes mellitus, transient neonatal, 3; Hyperinsulinemic hypoglycemia, familial, 2; Type 2 diabetes mellitus; Maturity-onset diabetes of the young type 13; Diabetes mellitus, permanent neonatal 2
Exercise-induced hyperinsulinism
Familial hyperinsulinism
Hyperinsulinemia
Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1; Diabetes mellitus, permanent neonatal 3
Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Diabetes mellitus, permanent neonatal 3
Hyperinsulinemic hypoglycemia, familial, 1; Type 2 diabetes mellitus
Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2; Maturity-onset diabetes of the young type 13
Hyperinsulinemic hypoglycemia, familial, 4
Hyperinsulinism due to HNF1A deficiency
Hyperinsulinism due to HNF4A deficiency
Hyperinsulinism due to INSR deficiency
Hyperinsulinism due to glucokinase deficiency
Hyperinsulinism-hyperammonemia syndrome
Insulin-resistant diabetes mellitus AND acanthosis nigricans; Hyperinsulinism due to INSR deficiency
Insulin-resistant diabetes mellitus AND acanthosis nigricans; Hyperinsulinism due to INSR deficiency; Leprechaunism syndrome; Rabson-Mendenhall syndrome
Metabolic myopathy due to lactate transporter defect; Exercise-induced hyperinsulinism; Ketoacidosis due to monocarboxylate transporter-1 deficiency
Permanent neonatal diabetes mellitus; Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Type 2 diabetes mellitus
Permanent neonatal diabetes mellitus; Diabetes mellitus, transient neonatal, 3; Hyperinsulinemic hypoglycemia, familial, 2
Permanent neonatal diabetes mellitus; Diabetes mellitus, transient neonatal, 3; Hyperinsulinemic hypoglycemia, familial, 2; Type 2 diabetes mellitus; Maturity-onset diabetes of the young type 13
Permanent neonatal diabetes mellitus; Type 2 diabetes mellitus; Hyperinsulinism due to glucokinase deficiency; Maturity-onset diabetes of the young type 2
Type 2 diabetes mellitus; Hyperinsulinism due to glucokinase deficiency; Maturity-onset diabetes of the young type 2
Type 2 diabetes mellitus; Hyperinsulinism due to glucokinase deficiency; Maturity-onset diabetes of the young type 2; Permanent neonatal diabetes mellitus 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000162.5(GCK):c.1142T>A (p.Met381Lys)	rs193922266
NM_000162.5(GCK):c.1148C>T (p.Ser383Leu)	rs777870079
NM_000162.5(GCK):c.1155del (p.Leu386fs)	rs1400535021
NM_000162.5(GCK):c.122_123insAGGAGATG (p.Met41fs)
NM_000162.5(GCK):c.1234G>A (p.Val412Met)
NM_000162.5(GCK):c.1241A>T (p.Lys414Met)
NM_000162.5(GCK):c.1340G>A (p.Arg447Gln)	rs1131691416
NM_000162.5(GCK):c.1340G>C (p.Arg447Pro)	rs1131691416
NM_000162.5(GCK):c.1354G>C (p.Val452Leu)
NM_000162.5(GCK):c.1358C>T (p.Ser453Leu)	rs193922283
NM_000162.5(GCK):c.1368del (p.Cys457fs)
NM_000162.5(GCK):c.269A>C (p.Lys90Thr)	rs2128822695
NM_000162.5(GCK):c.391T>C (p.Ser131Pro)	rs104894010
NM_000162.5(GCK):c.483+117T>C
NM_000162.5(GCK):c.629T>C (p.Met210Thr)	rs80356654
NM_000162.5(GCK):c.660C>A (p.Cys220Ter)	rs142952813
NM_000162.5(GCK):c.871A>T (p.Lys291Ter)	rs193922335

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.