GCK (glucokinase) - Rat Genome Database

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Gene: GCK (glucokinase) Homo sapiens
Analyze
Symbol: GCK
Name: glucokinase
RGD ID: 735697
HGNC Page HGNC:4195
Description: Enables ATP binding activity; glucokinase activity; and glucose binding activity. Involved in several processes, including glucose 6-phosphate metabolic process; positive regulation of insulin secretion; and regulation of glucose metabolic process. Located in cytosol. Implicated in artery disease (multiple) and glucose metabolism disease (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ATP:D-hexose 6-phosphotransferase; FGQTL3; GK; GLK; glucokinase (hexokinase 4); hexokinase D, pancreatic isozyme; hexokinase type IV; hexokinase-4; hexokinase-D; HHF3; HK IV; HK4; HKIV; HXKP; LGLK; MODY2; PNDM1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38744,143,213 - 44,189,439 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl744,143,213 - 44,198,170 (-)EnsemblGRCh38hg38GRCh38
GRCh37744,182,812 - 44,229,038 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36744,150,395 - 44,195,563 (-)NCBINCBI36Build 36hg18NCBI36
Build 34743,957,109 - 43,972,127NCBI
Celera744,281,829 - 44,326,987 (-)NCBICelera
Cytogenetic Map7p13NCBI
HuRef744,069,141 - 44,114,301 (-)NCBIHuRef
CHM1_1744,187,724 - 44,232,886 (-)NCBICHM1_1
T2T-CHM13v2.0744,301,768 - 44,348,026 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2744,223,370 - 44,268,527 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
1-methylphenanthrene  (EXP)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
1H-pyrazole  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4,6-trinitrotoluene  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-amino-2-deoxy-D-glucopyranose  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3-chloropropane-1,2-diol  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
6-chloro-2,3,4,9-tetrahydro-1H-carbazole-1-carboxamide  (EXP)
6-propyl-2-thiouracil  (ISO)
8-Br-cAMP  (EXP)
9-cis-retinoic acid  (ISO)
aconitine  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP,ISO)
aldehydo-D-glucosamine  (ISO)
aldehydo-D-glucose  (ISO)
all-trans-retinoic acid  (EXP)
alloxan  (ISO)
ammonium chloride  (ISO)
anthracen-2-amine  (ISO)
arsane  (EXP,ISO)
arsenic atom  (EXP,ISO)
arsenous acid  (EXP,ISO)
atorvastatin calcium  (EXP,ISO)
atrazine  (ISO)
benzamide  (EXP)
benzene  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (EXP)
beta-D-glucosamine  (ISO)
beta-naphthoflavone  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
boric acid  (ISO)
carbon nanotube  (ISO)
chloroform  (ISO)
chlorothalonil  (ISO)
choline  (ISO)
ciguatoxin CTX1B  (ISO)
clofibrate  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
corn oil  (ISO)
Cuprizon  (ISO)
cyanocob(III)alamin  (ISO)
cyclosporin A  (EXP)
D-glucose  (ISO)
DDE  (ISO)
desferrioxamine B  (ISO)
dexamethasone  (ISO)
diarsenic trioxide  (EXP,ISO)
dibenz[a,h]anthracene  (EXP)
dibenzo[a,l]pyrene  (EXP)
dichlorvos  (ISO)
diclofenac  (ISO)
diethylstilbestrol  (ISO)
dioxygen  (ISO)
duvoglustat  (ISO)
ebselen  (ISO)
epoxiconazole  (ISO)
erythromycin estolate  (ISO)
ethanol  (ISO)
fluoranthene  (EXP)
folic acid  (EXP,ISO)
fructose  (ISO)
fulvestrant  (EXP)
furan  (ISO)
gamma-hexachlorocyclohexane  (ISO)
Ginsenoside Rh4  (ISO)
glafenine  (ISO)
glucose  (ISO)
glycine betaine  (ISO)
herbicide  (ISO)
hesperidin  (ISO)
hydrazine  (ISO)
inulin  (ISO)
ketoconazole  (ISO)
L-methionine  (ISO)
lead(0)  (ISO)
metformin  (EXP,ISO)
methidathion  (ISO)
methylmercury chloride  (ISO)
microcystin-LR  (ISO)
mono(2-ethylhexyl) phthalate  (EXP)
monocrotophos  (ISO)
N-[3,5-bis(trifluoromethyl)phenyl]-5-chloro-2-hydroxybenzamide  (ISO)
N-ethyl-N-nitrosourea  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
N-nitrosomorpholine  (ISO)
naringin  (ISO)
nefazodone  (ISO)
Nonylphenol  (ISO)
ochratoxin A  (ISO)
ozone  (ISO)
paracetamol  (ISO)
penconazole  (ISO)
perfluorononanoic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenformin  (ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
pravastatin  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
procymidone  (ISO)
Repaglinide  (ISO)
resveratrol  (EXP,ISO)
rifampicin  (EXP)
rotenone  (ISO)
selenomethionine  (ISO)
sevoflurane  (ISO)
sodium arsenite  (EXP,ISO)
streptozocin  (ISO)
styrene  (ISO)
tamoxifen  (ISO)
taurine  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
thapsigargin  (ISO)
theophylline  (ISO)
thioacetamide  (ISO)
Triptolide  (ISO)
triptonide  (ISO)
valproic acid  (EXP)
vanillic acid  (EXP)
WIN 55212-2  (ISO)
zaragozic acid A  (ISO)
zinc atom  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
actin filament  (ISO)
basal cortex  (ISO)
cell cortex  (ISO)
cytoplasm  (IEA)
cytosol  (IBA,IDA,IEA,TAS)
mitochondrion  (IBA,IEA)
nucleoplasm  (ISO,TAS)
nucleus  (IEA)
secretory granule  (ISO)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal circulating C-peptide concentration  (IAGP)
Abnormal circulating insulin concentration  (IAGP)
Abnormal heart morphology  (IAGP)
Abnormal nervous system physiology  (IAGP)
Abnormal oral glucose tolerance  (IAGP)
Abnormality of the autonomic nervous system  (IAGP)
Abnormality of the genitourinary system  (IAGP)
Abnormality of the kidney  (IAGP)
Abnormality of the upper urinary tract  (IAGP)
Acanthosis nigricans  (IAGP)
Apraxia  (IAGP)
Arthrogryposis multiplex congenita  (IAGP)
Ataxia  (IAGP)
Autoimmune antibody positivity  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Beta-cell dysfunction  (IAGP)
Bilateral ptosis  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Coma  (IAGP)
Dehydration  (IAGP)
Diabetes mellitus  (IAGP)
Diabetic ketoacidosis  (IAGP)
Downturned corners of mouth  (IAGP)
Elevated hemoglobin A1c  (IAGP)
Exocrine pancreatic insufficiency  (IAGP)
Failure to thrive  (IAGP)
Fasting hyperinsulinemia  (IAGP)
Fatigue  (IAGP)
Generalized myoclonic seizure  (IAGP)
Global developmental delay  (IAGP)
Glucose intolerance  (IAGP)
Glycosuria  (IAGP)
Hand tremor  (IAGP)
Hearing impairment  (IAGP)
Hepatocellular adenoma  (IAGP)
Hyperglycemia  (IAGP)
Hyperinsulinemic hypoglycemia  (IAGP)
Hypoglycemic coma  (IAGP)
Hypoglycemic seizures  (IAGP)
Hypoinsulinemia  (IAGP)
Hypoketotic hypoglycemia  (IAGP)
Hypotonia  (IAGP)
Hypovolemia  (IAGP)
Impaired glucose tolerance  (IAGP)
Increased body weight  (IAGP)
Increased waist to hip ratio  (IAGP)
Insulin resistance  (IAGP)
Insulin-resistant diabetes mellitus  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, severe  (IAGP)
Intrauterine growth retardation  (IAGP)
Juvenile onset  (IAGP)
Ketonuria  (IAGP)
Large for gestational age  (IAGP)
Late onset  (IAGP)
Lower-limb joint contracture  (IAGP)
Maternal diabetes  (IAGP)
Maturity-onset diabetes of the young  (IAGP)
Moderate albuminuria  (IAGP)
Motor delay  (IAGP)
Muscle weakness  (IAGP)
Neonatal hypoglycemia  (IAGP)
Neonatal insulin-dependent diabetes mellitus  (IAGP)
Nephropathy  (IAGP)
Neurodevelopmental delay  (IAGP)
Obesity  (IAGP)
Overweight  (IAGP)
Pancreatic hypoplasia  (IAGP)
Peripheral axonal neuropathy  (IAGP)
Pleomorphic xanthoastrocytoma  (IAGP)
Prominent metopic ridge  (IAGP)
Recurrent hypoglycemia  (IAGP)
Reduced C-peptide level  (IAGP)
Reduced pancreatic beta cells  (IAGP)
Renal cyst  (IAGP)
Renal tubular dysfunction  (IAGP)
Retinopathy  (IAGP)
Seizure  (IAGP)
Small for gestational age  (IAGP)
Transient neonatal diabetes mellitus  (IAGP)
Type I diabetes mellitus  (IAGP)
Type II diabetes mellitus  (IAGP)
Weight loss  (IAGP)
Young adult onset  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Interaction of glucokinase with the liver regulatory protein is conferred by leucine-asparagine motifs of the enzyme. Baltrusch S, etal., Diabetes. 2005 Oct;54(10):2829-37.
2. Differences in regulatory properties between human and rat glucokinase regulatory protein. Brocklehurst KJ, etal., Biochem J. 2004 Mar 1;378(Pt 2):693-7.
3. Evolution and regulatory role of the hexokinases. Cardenas ML, etal., Biochim Biophys Acta. 1998 Mar 5;1401(3):242-64.
4. Nucleotide(-258) G-to-A transition variant of the liver glucokinase gene is associated with essential hypertension. Chiang FT, etal., Am J Hypertens. 1997 Sep;10(9 Pt 1):1049-52.
5. Small molecule glucokinase activators disturb lipid homeostasis and induce fatty liver in rodents: a warning for therapeutic applications in humans. De Ceuninck F, etal., Br J Pharmacol. 2013 Jan;168(2):339-53. doi: 10.1111/j.1476-5381.2012.02184.x.
6. Pharmacokinetic and pharmacodynamic properties of the glucokinase activator MK-0941 in rodent models of type 2 diabetes and healthy dogs. Eiki J, etal., Mol Pharmacol. 2011 Dec;80(6):1156-65. doi: 10.1124/mol.111.074401. Epub 2011 Sep 21.
7. Defect in glucokinase translocation in Zucker diabetic fatty rats. Fujimoto Y, etal., Am J Physiol Endocrinol Metab. 2004 Sep;287(3):E414-23. Epub 2004 May 11.
8. Chronic treatment with a glucokinase activator delays the onset of hyperglycaemia and preserves beta cell mass in the Zucker diabetic fatty rat. Futamura M, etal., Diabetologia. 2012 Apr;55(4):1071-80. doi: 10.1007/s00125-011-2439-3. Epub 2012 Jan 11.
9. Familial hyperinsulinism caused by an activating glucokinase mutation. Glaser B, etal., N Engl J Med. 1998 Jan 22;338(4):226-30.
10. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
11. Relationships between concentration of hepatic intermediary metabolites and induction of the key glycolytic enzymes in vivo. Gunn JM and Taylor CB, Biochem J. 1973 Nov;136(3):455-65.
12. Pre-germinated brown rice extract ameliorates high-fat diet-induced metabolic syndrome. Hao CL, etal., J Food Biochem. 2019 Mar;43(3):e12769. doi: 10.1111/jfbc.12769. Epub 2019 Jan 13.
13. Common variants in maturity-onset diabetes of the young genes and future risk of type 2 diabetes. Holmkvist J, etal., Diabetes. 2008 Jun;57(6):1738-44. Epub 2008 Mar 10.
14. Hypermethylation of hepatic glucokinase and L-type pyruvate kinase promoters in high-fat diet-induced obese rats. Jiang M, etal., Endocrinology. 2011 Apr;152(4):1284-9. doi: 10.1210/en.2010-1162. Epub 2011 Jan 14.
15. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
16. Iron increases liver injury through oxidative/nitrative stress in diabetic rats: Involvement of nitrotyrosination of glucokinase. Li X, etal., Biochimie. 2012 Dec;94(12):2620-7. doi: 10.1016/j.biochi.2012.07.019. Epub 2012 Aug 1.
17. Islet adaptive changes to fructose-induced insulin resistance: beta-cell mass, glucokinase, glucose metabolism, and insulin secretion. Maiztegui B, etal., J Endocrinol. 2009 Feb;200(2):139-49. doi: 10.1677/JOE-08-0386. Epub 2008 Nov 27.
18. G(-30)A polymorphism in the pancreatic promoter of the glucokinase gene associated with angiographic coronary artery disease and type 2 diabetes mellitus. Marz W, etal., Circulation. 2004 Jun 15;109(23):2844-9. Epub 2004 Jun 1.
19. Glucokinase gene polymorphisms: a genetic marker for glucose intolerance in a cohort of elderly Finnish men. McCarthy MI, etal., Diabet Med. 1994 Mar;11(2):198-204.
20. Mutations in the glucokinase gene are not a major cause of late-onset type 2 (non-insulin-dependent) diabetes mellitus in Japanese subjects. Nishi S, etal., Diabet Med. 1994 Mar;11(2):193-7.
21. Neonatal diabetes mellitus due to complete glucokinase deficiency. Njolstad PR, etal., N Engl J Med. 2001 May 24;344(21):1588-92.
22. Polymorphic microsatellite repeat markers at the glucokinase gene locus are positively associated with NIDDM in Japanese. Noda K, etal., Diabetes. 1993 Aug;42(8):1147-52.
23. The islet beta-cell: fuel responsive and vulnerable. Nolan CJ and Prentki M, Trends Endocrinol Metab. 2008 Oct;19(8):285-91. Epub 2008 Sep 6.
24. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
25. Online Mendelian Inheritance in Man, OMIM (TM). Online Mendelian Inheritance in Man, OMIM (TM).
26. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
27. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
28. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
29. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
30. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
31. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
32. Common variants in MODY genes increase the risk of gestational diabetes mellitus. Shaat N, etal., Diabetologia. 2006 Jul;49(7):1545-51. Epub 2006 Apr 26.
33. Identification of glucokinase mutations in subjects with gestational diabetes mellitus. Stoffel M, etal., Diabetes. 1993 Jun;42(6):937-40.
34. Two microsatellite repeat polymorphisms flanking opposite ends of the human glucokinase gene: use in haplotype analysis of Welsh Caucasians with type 2 (non-insulin-dependent) diabetes mellitus. Tanizawa Y, etal., Diabetologia. 1993 May;36(5):409-13.
35. Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus. Vionnet N, etal., Nature. 1992 Apr 23;356(6371):721-2.
36. A common haplotype of the glucokinase gene alters fasting glucose and birth weight: association in six studies and population-genetics analyses. Weedon MN, etal., Am J Hum Genet. 2006 Dec;79(6):991-1001. Epub 2006 Oct 6.
37. Induction and suppression of the key enzymes of glycolysis and gluconeogenesis in isolated perfused rat liver in response to glucose, fructose and lactate. Wimhurst JM and Manchester KL, Biochem J. 1973 May;134(1):143-56.
Additional References at PubMed
PMID:1303265   PMID:1349989   PMID:1354840   PMID:1360036   PMID:1397713   PMID:1464666   PMID:1502186   PMID:1511800   PMID:1545870   PMID:1612194   PMID:1740341   PMID:1740342  
PMID:1871135   PMID:8094163   PMID:8094164   PMID:8132752   PMID:8168652   PMID:8194664   PMID:8325892   PMID:8376578   PMID:8433729   PMID:8446612   PMID:8454109   PMID:8549853  
PMID:8626423   PMID:8878425   PMID:9000692   PMID:9049484   PMID:9270716   PMID:9469993   PMID:9570959   PMID:9662401   PMID:10588527   PMID:10601273   PMID:10694920   PMID:11106831  
PMID:11112984   PMID:11237213   PMID:11440371   PMID:11473043   PMID:11522786   PMID:11756407   PMID:11772903   PMID:11914755   PMID:12050210   PMID:12101177   PMID:12442280   PMID:12477932  
PMID:12515438   PMID:12627330   PMID:12690205   PMID:12941786   PMID:14517946   PMID:14578306   PMID:14617577   PMID:14702039   PMID:14747279   PMID:15009676   PMID:15277402   PMID:15305805  
PMID:15489334   PMID:15677479   PMID:15677518   PMID:15841481   PMID:15918042   PMID:15928245   PMID:15987895   PMID:16173921   PMID:16186409   PMID:16331569   PMID:16344560   PMID:16378108  
PMID:16444761   PMID:16632067   PMID:16936201   PMID:16963153   PMID:17070428   PMID:17082186   PMID:17186219   PMID:17216282   PMID:17260972   PMID:17327436   PMID:17389332   PMID:17561510  
PMID:17573900   PMID:17584736   PMID:17937063   PMID:17976205   PMID:17994217   PMID:18008060   PMID:18039179   PMID:18159847   PMID:18184897   PMID:18187620   PMID:18196929   PMID:18208578  
PMID:18248649   PMID:18271687   PMID:18298419   PMID:18322640   PMID:18325809   PMID:18370929   PMID:18382660   PMID:18397317   PMID:18399931   PMID:18411240   PMID:18450771   PMID:18483479  
PMID:18498634   PMID:18556336   PMID:18571549   PMID:18588509   PMID:18651836   PMID:18672310   PMID:18805788   PMID:18809676   PMID:18811724   PMID:18828733   PMID:19002431   PMID:19018513  
PMID:19060907   PMID:19073768   PMID:19096518   PMID:19125755   PMID:19146401   PMID:19150152   PMID:19169489   PMID:19187021   PMID:19228875   PMID:19241058   PMID:19282865   PMID:19336674  
PMID:19358091   PMID:19368707   PMID:19410318   PMID:19411616   PMID:19459610   PMID:19473033   PMID:19515026   PMID:19533084   PMID:19551638   PMID:19564454   PMID:19578796   PMID:19617908  
PMID:19643913   PMID:19651812   PMID:19741163   PMID:19741166   PMID:19790256   PMID:19884385   PMID:19913121   PMID:19934346   PMID:19937311   PMID:19948975   PMID:20015564   PMID:20081858  
PMID:20132997   PMID:20144192   PMID:20164212   PMID:20185807   PMID:20227404   PMID:20301549   PMID:20301620   PMID:20301750   PMID:20337973   PMID:20458967   PMID:20490451   PMID:20536962  
PMID:20587714   PMID:20628086   PMID:20628598   PMID:20668700   PMID:20682687   PMID:20682688   PMID:20828143   PMID:20845477   PMID:20849852   PMID:20858683   PMID:20878480   PMID:20889853  
PMID:20979768   PMID:21036910   PMID:21104275   PMID:21348868   PMID:21420961   PMID:21437567   PMID:21454584   PMID:21518409   PMID:21544516   PMID:21604084   PMID:21720051   PMID:21873635  
PMID:21909109   PMID:21978167   PMID:22028181   PMID:22038520   PMID:22043488   PMID:22060211   PMID:22096510   PMID:22177951   PMID:22291974   PMID:22298776   PMID:22332836   PMID:22335469  
PMID:22341299   PMID:22399527   PMID:22432108   PMID:22493702   PMID:22517333   PMID:22540858   PMID:22581228   PMID:22611063   PMID:22653590   PMID:22761713   PMID:22820548   PMID:23009393  
PMID:23029263   PMID:23085272   PMID:23139355   PMID:23155715   PMID:23271955   PMID:23433541   PMID:23575436   PMID:23586928   PMID:23733961   PMID:23840762   PMID:23843579   PMID:23878349  
PMID:23957911   PMID:24001579   PMID:24146201   PMID:24187134   PMID:24244560   PMID:24323243   PMID:24405491   PMID:24430320   PMID:24447338   PMID:24495862   PMID:24520939   PMID:24568320  
PMID:24578721   PMID:24637025   PMID:24647736   PMID:24696842   PMID:24720358   PMID:24723372   PMID:24728127   PMID:24804978   PMID:24890200   PMID:24992032   PMID:25015100   PMID:25074928  
PMID:25174781   PMID:25187374   PMID:25200293   PMID:25336239   PMID:25494859   PMID:25633883   PMID:25850297   PMID:25892191   PMID:25935773   PMID:25987348   PMID:26208450   PMID:26226118  
PMID:26240958   PMID:26283387   PMID:26344197   PMID:26620281   PMID:26669242   PMID:27016322   PMID:27146014   PMID:27185633   PMID:27256595   PMID:27269892   PMID:27289208   PMID:27520373  
PMID:27634015   PMID:28170077   PMID:28247534   PMID:28319085   PMID:28371533   PMID:28648619   PMID:28726111   PMID:28783164   PMID:29044608   PMID:29056535   PMID:29166588   PMID:29329106  
PMID:29408271   PMID:29424410   PMID:29510678   PMID:29546446   PMID:29704611   PMID:29792621   PMID:29927023   PMID:30245511   PMID:30257192   PMID:30465894   PMID:30481753   PMID:30963753  
PMID:31094068   PMID:31216801   PMID:31529753   PMID:31605429   PMID:31882596   PMID:32296183   PMID:32468610   PMID:32482198   PMID:32508747   PMID:32741144   PMID:32901087   PMID:33277730  
PMID:33298402   PMID:33594203   PMID:33651899   PMID:34085361   PMID:34105236   PMID:34128214   PMID:34165031   PMID:34438359   PMID:34627944   PMID:34677673   PMID:34680961   PMID:34746319  
PMID:34857952   PMID:35055105   PMID:35131168   PMID:35176401   PMID:35276241   PMID:35381380   PMID:35674212   PMID:35770790   PMID:36243233   PMID:36384997   PMID:36400171   PMID:36901746  
PMID:37011183   PMID:37093431   PMID:37101203   PMID:37730861   PMID:37847371   PMID:37958824  


Genomics

Comparative Map Data
GCK
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38744,143,213 - 44,189,439 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl744,143,213 - 44,198,170 (-)EnsemblGRCh38hg38GRCh38
GRCh37744,182,812 - 44,229,038 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36744,150,395 - 44,195,563 (-)NCBINCBI36Build 36hg18NCBI36
Build 34743,957,109 - 43,972,127NCBI
Celera744,281,829 - 44,326,987 (-)NCBICelera
Cytogenetic Map7p13NCBI
HuRef744,069,141 - 44,114,301 (-)NCBIHuRef
CHM1_1744,187,724 - 44,232,886 (-)NCBICHM1_1
T2T-CHM13v2.0744,301,768 - 44,348,026 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2744,223,370 - 44,268,527 (-)NCBI
Gck
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39115,850,816 - 5,900,081 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl115,850,820 - 5,900,081 (-)EnsemblGRCm39 Ensembl
GRCm38115,900,816 - 5,950,081 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl115,900,820 - 5,950,081 (-)EnsemblGRCm38mm10GRCm38
MGSCv37115,800,826 - 5,849,602 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36115,800,826 - 5,849,602 (-)NCBIMGSCv36mm8
Celera116,392,658 - 6,441,626 (-)NCBICelera
Cytogenetic Map11A1NCBI
cM Map113.88NCBI
Gck
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81484,999,019 - 85,041,098 (-)NCBIGRCr8
mRatBN7.21480,785,060 - 80,829,842 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1480,785,060 - 80,826,995 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1485,187,142 - 85,229,037 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01486,427,238 - 86,469,134 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01482,876,552 - 82,918,448 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01486,149,146 - 86,191,589 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1486,148,928 - 86,190,659 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01486,832,735 - 86,875,295 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41486,572,518 - 86,587,723 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11486,591,662 - 86,606,868 (-)NCBI
Celera1479,669,432 - 79,710,739 (-)NCBICelera
Cytogenetic Map14q21NCBI
Gck
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554567,783,760 - 7,842,129 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554567,784,269 - 7,838,260 (+)NCBIChiLan1.0ChiLan1.0
GCK
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2649,055,783 - 49,100,854 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1797,380,522 - 97,425,594 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0744,857,604 - 44,903,683 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1744,924,922 - 44,971,365 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl744,926,848 - 44,937,751 (-)Ensemblpanpan1.1panPan2
GCK
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Dog10K_Boxer_Tasha162,080,944 - 2,123,987 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01614,737,904 - 14,781,009 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1614,738,733 - 14,780,998 (+)EnsemblROS_Cfam_1.0 Ensembl
UNSW_CanFamBas_1.01614,369,169 - 14,412,232 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01614,349,631 - 14,392,705 (+)NCBIUU_Cfam_GSD_1.0
Gck
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440511899,892,708 - 99,947,669 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647819,105,361 - 19,158,733 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647819,104,477 - 19,118,915 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GCK
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12114,475,723 - 14,523,086 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2114,507,902 - 14,523,850 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660627,992,041 - 8,048,141 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gck
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247407,852,390 - 7,886,758 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247407,844,496 - 7,885,900 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GCK
727 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000162.5(GCK):c.781G>C (p.Gly261Arg) single nucleotide variant Monogenic diabetes [RCV003325963]|not provided [RCV000517324] Chr7:44147732 [GRCh38]
Chr7:44187331 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.440del (p.Gly147fs) deletion Maturity onset diabetes mellitus in young [RCV002464019]|not provided [RCV000517744] Chr7:44150999 [GRCh38]
Chr7:44190598 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_000162.5(GCK):c.911T>C (p.Leu304Pro) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463711]|Maturity-onset diabetes of the young type 2 [RCV002468586]|Monogenic diabetes [RCV003325965]|not provided [RCV000518714] Chr7:44146571 [GRCh38]
Chr7:44186170 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic|likely risk allele
NM_000162.5(GCK):c.883G>A (p.Gly295Ser) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463710]|Monogenic diabetes [RCV003325964]|not provided [RCV002527475]|not specified [RCV000516528] Chr7:44146599 [GRCh38]
Chr7:44186198 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic|uncertain significance
NM_000162.5(GCK):c.1136C>G (p.Ala379Gly) single nucleotide variant Monogenic diabetes [RCV003318500]|not provided [RCV000518241] Chr7:44145614 [GRCh38]
Chr7:44185213 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.483+10G>A single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463699]|not specified [RCV000516929] Chr7:44150946 [GRCh38]
Chr7:44190545 [GRCh37]
Chr7:7p13
benign|uncertain significance
NM_000162.5(GCK):c.793G>A (p.Glu265Lys) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV002285350]|Type 2 diabetes mellitus [RCV002490882]|not provided [RCV000516510] Chr7:44147720 [GRCh38]
Chr7:44187319 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.46-2A>G single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464233]|not provided [RCV000517853] Chr7:44153465 [GRCh38]
Chr7:44193064 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_000162.5(GCK):c.1229G>A (p.Gly410Asp) single nucleotide variant not provided [RCV000516548] Chr7:44145521 [GRCh38]
Chr7:44185120 [GRCh37]
Chr7:7p13
conflicting interpretations of pathogenicity|uncertain significance
NM_000162.5(GCK):c.595G>A (p.Val199Met) single nucleotide variant Inborn genetic diseases [RCV001266633]|Maturity onset diabetes mellitus in young [RCV002463703]|not provided [RCV000516639] Chr7:44149844 [GRCh38]
Chr7:44189443 [GRCh37]
Chr7:7p13
likely risk allele|conflicting interpretations of pathogenicity|uncertain significance
NM_000162.5(GCK):c.442T>A (p.Phe148Ile) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464020]|Monogenic diabetes [RCV003403214]|not specified [RCV000518632] Chr7:44150997 [GRCh38]
Chr7:44190596 [GRCh37]
Chr7:7p13
likely risk allele|uncertain significance
NM_000162.5(GCK):c.1120G>A (p.Val374Met) single nucleotide variant Monogenic diabetes [RCV003403213]|not specified [RCV000517245] Chr7:44145630 [GRCh38]
Chr7:44185229 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain significance
NM_000162.5(GCK):c.645C>A (p.Tyr215Ter) single nucleotide variant Maturity onset diabetes mellitus in young [RCV000826165]|not provided [RCV000523346] Chr7:44149794 [GRCh38]
Chr7:44189393 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_000162.5(GCK):c.431T>C (p.Leu144Pro) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464024]|not provided [RCV000523438] Chr7:44151008 [GRCh38]
Chr7:44190607 [GRCh37]
Chr7:7p13
likely risk allele|uncertain significance
NM_000162.5(GCK):c.483+14A>G single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463700]|not provided [RCV002060239]|not specified [RCV000517895] Chr7:44150942 [GRCh38]
Chr7:44190541 [GRCh37]
Chr7:7p13
benign|likely benign|conflicting interpretations of pathogenicity
NM_000162.5(GCK):c.-17C>T single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463698]|not provided [RCV002272273]|not specified [RCV000516256] Chr7:44188970 [GRCh38]
Chr7:44228569 [GRCh37]
Chr7:7p13
benign|likely benign|uncertain significance
NM_000162.5(GCK):c.776C>T (p.Ala259Val) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002413397]|Monogenic diabetes [RCV003325962]|not specified [RCV000518148] Chr7:44147737 [GRCh38]
Chr7:44187336 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic|likely risk allele|uncertain significance
NM_033507.2(GCK):c.488del deletion Maturity onset diabetes mellitus in young [RCV002463701]|not provided [RCV000516477] Chr7:44150063 [GRCh38]
Chr7:44189662 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_000162.5(GCK):c.1020-1G>A single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463693]|not provided [RCV000517137] Chr7:44145731 [GRCh38]
Chr7:44185330 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_000162.5(GCK):c.646G>A (p.Glu216Lys) single nucleotide variant Monogenic diabetes [RCV003318502]|Type 2 diabetes mellitus [RCV002506251]|not provided [RCV000518502] Chr7:44149793 [GRCh38]
Chr7:44189392 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.1019+2T>G single nucleotide variant Permanent neonatal diabetes mellitus [RCV000020164]|not provided [RCV000599197] Chr7:44146461 [GRCh38]
Chr7:44186060 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_000162.5(GCK):c.1133C>T (p.Ala378Val) single nucleotide variant Monogenic diabetes [RCV003325943]|Permanent neonatal diabetes mellitus [RCV000020165] Chr7:44145617 [GRCh38]
Chr7:44185216 [GRCh37]
Chr7:7p13
pathogenic|not provided
NM_000162.5(GCK):c.1190G>T (p.Arg397Leu) single nucleotide variant Monogenic diabetes [RCV003318494]|Permanent neonatal diabetes mellitus [RCV000020166]|not provided [RCV000518294] Chr7:44145560 [GRCh38]
Chr7:44185159 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic|not provided
NM_000162.5(GCK):c.790G>A (p.Gly264Ser) single nucleotide variant Monogenic diabetes [RCV003398550]|Permanent neonatal diabetes mellitus [RCV000020168] Chr7:44147723 [GRCh38]
Chr7:44187322 [GRCh37]
Chr7:7p13
pathogenic|not provided
NM_000162.5(GCK):c.1015G>A (p.Glu339Lys) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV000032978] Chr7:44146467 [GRCh38]
Chr7:44186066 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_000162.5(GCK):c.45+11C>G single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463597]|Neonatal diabetes mellitus [RCV000029882] Chr7:44188898 [GRCh38]
Chr7:44228497 [GRCh37]
Chr7:7p13
benign|uncertain significance
NM_000162.5(GCK):c.835G>T (p.Glu279Ter) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV000017512] Chr7:44147678 [GRCh38]
Chr7:44187277 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.556C>T (p.Arg186Ter) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002345246]|Maturity-onset diabetes of the young type 2 [RCV002225072]|Type 2 diabetes mellitus [RCV000017513]|not provided [RCV000516235] Chr7:44149992 [GRCh38]
Chr7:44189591 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.683C>T (p.Thr228Met) single nucleotide variant Hyperinsulinism due to glucokinase deficiency [RCV003147296]|Maturity onset diabetes mellitus in young [RCV002362586]|Maturity-onset diabetes of the young type 2 [RCV000020167]|Permanent neonatal diabetes mellitus 1 [RCV001269032]|Type 2 diabetes mellitus [RCV003147295]|not provided [RCV000498792] Chr7:44147830 [GRCh38]
Chr7:44187429 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.781G>A (p.Gly261Arg) single nucleotide variant Maturity onset diabetes mellitus in young [RCV001507008]|Maturity-onset diabetes of the young type 2 [RCV000017515]|Maturity-onset diabetes of the young type 3 [RCV003445078]|Monogenic diabetes [RCV003325940]|not provided [RCV000426797] Chr7:44147732 [GRCh38]
Chr7:44187331 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_000162.5(GCK):c.895G>C (p.Gly299Arg) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV000017516]|not provided [RCV001288185] Chr7:44146587 [GRCh38]
Chr7:44186186 [GRCh37]
Chr7:7p13
pathogenic
GCK, IVS4DS, 15-BP DEL deletion Maturity-onset diabetes of the young type 2 [RCV000017517] Chr7:7p15-p13 pathogenic
NM_000162.5(GCK):c.391T>C (p.Ser131Pro) single nucleotide variant Hyperinsulinism due to glucokinase deficiency [RCV003147298]|Maturity-onset diabetes of the young type 2 [RCV000017518]|Permanent neonatal diabetes mellitus 1 [RCV003147299]|Type 2 diabetes mellitus [RCV003147297]|not provided [RCV002513078] Chr7:44151048 [GRCh38]
Chr7:44190647 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic|uncertain significance
NM_000162.5(GCK):c.793G>T (p.Glu265Ter) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV000017519]|not provided [RCV000517435] Chr7:44147720 [GRCh38]
Chr7:44187319 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.1363G>A (p.Val455Met) single nucleotide variant Hyperinsulinism due to glucokinase deficiency [RCV000017520]|not provided [RCV002513079] Chr7:44145171 [GRCh38]
Chr7:44184770 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.629T>A (p.Met210Lys) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV000190348]|Monogenic diabetes [RCV003318493]|Permanent neonatal diabetes mellitus 1 [RCV001281107]|Permanent neonatal diabetes mellitus [RCV000017521] Chr7:44149810 [GRCh38]
Chr7:44189409 [GRCh37]
Chr7:7p13
pathogenic|not provided
NM_000162.5(GCK):c.1367C>T (p.Ala456Val) single nucleotide variant Hyperinsulinism due to glucokinase deficiency [RCV000017525]|not provided [RCV001818166] Chr7:44145167 [GRCh38]
Chr7:44184766 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.641A>G (p.Tyr214Cys) single nucleotide variant Hyperinsulinism due to glucokinase deficiency [RCV000017526] Chr7:44149798 [GRCh38]
Chr7:44189397 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.1132G>A (p.Ala378Thr) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV000017527]|Monogenic diabetes [RCV003325941]|not provided [RCV002513080] Chr7:44145618 [GRCh38]
Chr7:44185217 [GRCh37]
Chr7:7p13
pathogenic|uncertain significance
NM_000162.5(GCK):c.271G>Y (p.Val91Leu) single nucleotide variant Hyperinsulinism due to glucokinase deficiency [RCV000017528] Chr7:44152363 [GRCh38]
Chr7:44191962 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.499T>C (p.Trp167Arg) single nucleotide variant not provided [RCV000766929]|not specified [RCV000517391] Chr7:44150049 [GRCh38]
Chr7:44189648 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.295T>C (p.Trp99Arg) single nucleotide variant not provided [RCV000518344] Chr7:44152339 [GRCh38]
Chr7:44191938 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.478G>A (p.Asp160Asn) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464023]|Maturity-onset diabetes of the young type 2 [RCV002285349]|not provided [RCV000516357] Chr7:44150961 [GRCh38]
Chr7:44190560 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain risk allele
NM_000162.5(GCK):c.1133_1149del (p.Ala378fs) deletion Maturity onset diabetes mellitus in young [RCV002463694]|not provided [RCV000516400] Chr7:44145601..44145617 [GRCh38]
Chr7:44185200..44185216 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic|uncertain risk allele
NM_000162.5(GCK):c.208+16C>T single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464231]|not specified [RCV000516194] Chr7:44153285 [GRCh38]
Chr7:44192884 [GRCh37]
Chr7:7p13
benign|uncertain significance
NM_000162.5(GCK):c.1235T>G (p.Val412Gly) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463696]|not specified [RCV000517802] Chr7:44145515 [GRCh38]
Chr7:44185114 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain significance
NM_000162.5(GCK):c.187C>T (p.Arg63Cys) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464230]|not specified [RCV000518077] Chr7:44153322 [GRCh38]
Chr7:44192921 [GRCh37]
Chr7:7p13
uncertain risk allele|uncertain significance
NM_000162.5(GCK):c.590T>C (p.Met197Thr) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463702]|not specified [RCV000518379] Chr7:44149849 [GRCh38]
Chr7:44189448 [GRCh37]
Chr7:7p13
uncertain risk allele|uncertain significance
NM_000162.5(GCK):c.363+6C>A single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464232]|not provided [RCV001531038]|not specified [RCV000518456] Chr7:44152265 [GRCh38]
Chr7:44191864 [GRCh37]
Chr7:7p13
benign|likely benign|uncertain significance
NM_000162.5(GCK):c.1142T>A (p.Met381Lys) single nucleotide variant Monogenic diabetes [RCV003330318]|not specified [RCV000516508] Chr7:44145608 [GRCh38]
Chr7:44185207 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain significance
NM_000162.5(GCK):c.370G>C (p.Asp124His) single nucleotide variant not provided [RCV000516818] Chr7:44151069 [GRCh38]
Chr7:44190668 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.682A>G (p.Thr228Ala) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002367714]|Monogenic diabetes [RCV001248971]|not provided [RCV000516688] Chr7:44147831 [GRCh38]
Chr7:44187430 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic|uncertain significance
NM_000162.5(GCK):c.908G>T (p.Arg303Leu) single nucleotide variant not provided [RCV000517815] Chr7:44146574 [GRCh38]
Chr7:44186173 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.686del (p.Gly229fs) deletion Maturity onset diabetes mellitus in young [RCV002463704]|not provided [RCV000518517] Chr7:44147827 [GRCh38]
Chr7:44187426 [GRCh37]
Chr7:7p13
pathogenic|uncertain risk allele
NM_000162.5(GCK):c.-5T>C single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463590]|Maturity-onset diabetes of the young type 2 [RCV000029826] Chr7:44188958 [GRCh38]
Chr7:44228557 [GRCh37]
Chr7:7p13
benign|uncertain significance
NM_000162.5(GCK):c.1002_1003delinsAA (p.Phe334_Val335delinsLeuMet) indel Maturity onset diabetes mellitus in young [RCV002463591]|Maturity-onset diabetes of the young type 2 [RCV000029827] Chr7:44146479..44146480 [GRCh38]
Chr7:44186078..44186079 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain risk allele
NM_000162.5(GCK):c.1003_1004insAA (p.Val335fs) insertion Maturity onset diabetes mellitus in young [RCV002464073]|Maturity-onset diabetes of the young type 2 [RCV000029828] Chr7:44146478..44146479 [GRCh38]
Chr7:44186077..44186078 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain risk allele
NM_000162.5(GCK):c.1003del (p.Val335fs) deletion Maturity onset diabetes mellitus in young [RCV002390120]|Monogenic diabetes [RCV003317047]|not provided [RCV000255354] Chr7:44146479 [GRCh38]
Chr7:44186078 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_000162.5(GCK):c.1018A>G (p.Ser340Gly) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463592]|Maturity-onset diabetes of the young type 2 [RCV000029830] Chr7:44146464 [GRCh38]
Chr7:44186063 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain significance
NM_000162.5(GCK):c.1019+16G>A single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV000029831] Chr7:44146447 [GRCh38]
Chr7:44186046 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.1020-10C>A single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV003152667]|not provided [RCV000518539]|not specified [RCV000029832] Chr7:44145740 [GRCh38]
Chr7:44185339 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000162.5(GCK):c.1020-1G>C single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV000029833] Chr7:44145731 [GRCh38]
Chr7:44185330 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.103A>T (p.Arg35Ter) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463995]|Maturity-onset diabetes of the young type 2 [RCV000029834] Chr7:44153406 [GRCh38]
Chr7:44193005 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.1042A>T (p.Ile348Phe) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV000029835] Chr7:44145708 [GRCh38]
Chr7:44185307 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.107G>C (p.Arg36Pro) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV000029836] Chr7:44153402 [GRCh38]
Chr7:44193001 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.1114G>T (p.Glu372Ter) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV000029837] Chr7:44145636 [GRCh38]
Chr7:44185235 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.1124C>T (p.Ser375Phe) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463593]|Maturity-onset diabetes of the young type 2 [RCV000029838] Chr7:44145626 [GRCh38]
Chr7:44185225 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.1130G>A (p.Arg377His) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002321490]|Maturity-onset diabetes of the young type 2 [RCV000029839]|Monogenic diabetes [RCV003325945]|not provided [RCV001818186]|not specified [RCV000518143] Chr7:44145620 [GRCh38]
Chr7:44185219 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain significance
NM_000162.5(GCK):c.1136C>A (p.Ala379Glu) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002444444]|Maturity-onset diabetes of the young type 2 [RCV000029840]|Monogenic diabetes [RCV003318495]|not provided [RCV001642240] Chr7:44145614 [GRCh38]
Chr7:44185213 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic|uncertain significance
NM_000162.5(GCK):c.1142T>G (p.Met381Arg) single nucleotide variant Monogenic diabetes [RCV002281721] Chr7:44145608 [GRCh38]
Chr7:44185207 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain significance
NM_000162.5(GCK):c.1153G>A (p.Gly385Arg) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463594]|Maturity-onset diabetes of the young type 2 [RCV000029842] Chr7:44145597 [GRCh38]
Chr7:44185196 [GRCh37]
Chr7:7p13
likely pathogenic|likely risk allele
NM_000162.5(GCK):c.1157T>C (p.Leu386Pro) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002285137]|Maturity-onset diabetes of the young type 2 [RCV000029843]|not provided [RCV000517698] Chr7:44145593 [GRCh38]
Chr7:44185192 [GRCh37]
Chr7:7p13
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000162.5(GCK):c.1160C>A (p.Ala387Glu) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV000029844] Chr7:44145590 [GRCh38]
Chr7:44185189 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.1160C>T (p.Ala387Val) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV000029845]|Monogenic diabetes [RCV001248970]|not provided [RCV000493278] Chr7:44145590 [GRCh38]
Chr7:44185189 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000162.5(GCK):c.1169T>A (p.Ile390Asn) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV000029846] Chr7:44145581 [GRCh38]
Chr7:44185180 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain significance
NM_000162.5(GCK):c.1169T>C (p.Ile390Thr) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV000029847] Chr7:44145581 [GRCh38]
Chr7:44185180 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.1175G>T (p.Arg392Leu) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463595]|Maturity-onset diabetes of the young type 2 [RCV000029848]|Monogenic diabetes [RCV003330312] Chr7:44145575 [GRCh38]
Chr7:44185174 [GRCh37]
Chr7:7p13
likely pathogenic|likely risk allele
NM_000162.5(GCK):c.117G>A (p.Lys39=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463996]|Maturity-onset diabetes of the young type 2 [RCV000029849] Chr7:44153392 [GRCh38]
Chr7:44192991 [GRCh37]
Chr7:7p13
likely benign
NM_000162.5(GCK):c.1207C>G (p.Arg403Gly) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002345255]|Maturity-onset diabetes of the young type 2 [RCV000029850]|not provided [RCV001288976]|not specified [RCV003234925] Chr7:44145543 [GRCh38]
Chr7:44185142 [GRCh37]
Chr7:7p13
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000162.5(GCK):c.1240A>G (p.Lys414Glu) single nucleotide variant GCK-related condition [RCV003398573]|Maturity-onset diabetes of the young type 2 [RCV000029851]|Monogenic diabetes [RCV001248969]|not provided [RCV000711759] Chr7:44145510 [GRCh38]
Chr7:44185109 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_000162.5(GCK):c.1268T>A (p.Phe423Tyr) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV000029852] Chr7:44145266 [GRCh38]
Chr7:44184865 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.1279_1358delinsTTACA (p.Val427_Ser453delinsLeuGln) indel Maturity onset diabetes mellitus in young [RCV002287343]|Maturity-onset diabetes of the young type 2 [RCV000029853]|Monogenic diabetes [RCV003445083] Chr7:44145176..44145255 [GRCh38]
Chr7:44184775..44184854 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic|uncertain significance
NM_000162.5(GCK):c.1283_1284del (p.Arg428fs) microsatellite Maturity onset diabetes mellitus in young [RCV002287344]|Maturity-onset diabetes of the young type 2 [RCV000029854]|Monogenic diabetes [RCV003313031] Chr7:44145250..44145251 [GRCh38]
Chr7:44184849..44184850 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain significance
NM_000162.5(GCK):c.1285A>C (p.Arg429=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463430]|Maturity-onset diabetes of the young type 2 [RCV000029855]|Monogenic diabetes [RCV003313032] Chr7:44145249 [GRCh38]
Chr7:44184848 [GRCh37]
Chr7:7p13
likely benign
NM_000162.5(GCK):c.1288C>T (p.Leu430=) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV000029856]|not provided [RCV000710138]|not specified [RCV000501325] Chr7:44145246 [GRCh38]
Chr7:44184845 [GRCh37]
Chr7:7p13
likely benign|uncertain significance
NM_000162.5(GCK):c.1289T>C (p.Leu430Pro) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463431]|Maturity-onset diabetes of the young type 2 [RCV000029857] Chr7:44145245 [GRCh38]
Chr7:44184844 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.1307T>A (p.Ile436Asn) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV000029858] Chr7:44145227 [GRCh38]
Chr7:44184826 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.131G>A (p.Gly44Asp) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV000029859]|not provided [RCV001659731] Chr7:44153378 [GRCh38]
Chr7:44192977 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.1332del (p.Ser445fs) deletion Maturity onset diabetes mellitus in young [RCV002287345]|Maturity-onset diabetes of the young type 2 [RCV000029860]|Monogenic diabetes [RCV003313033] Chr7:44145202 [GRCh38]
Chr7:44184801 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain significance
NM_000162.5(GCK):c.1339C>G (p.Arg447Gly) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002381268]|Maturity-onset diabetes of the young type 2 [RCV000029861]|not provided [RCV001288979] Chr7:44145195 [GRCh38]
Chr7:44184794 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_000162.5(GCK):c.1345G>A (p.Ala449Thr) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV000029862] Chr7:44145189 [GRCh38]
Chr7:44184788 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.1358C>T (p.Ser453Leu) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV002285258]|Monogenic diabetes [RCV002271378]|Permanent neonatal diabetes mellitus [RCV000763582]|not provided [RCV000517061] Chr7:44145176 [GRCh38]
Chr7:44184775 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_000162.5(GCK):c.1372_1373del (p.Lys458fs) deletion Maturity onset diabetes mellitus in young [RCV002287346]|Maturity-onset diabetes of the young type 2 [RCV000029864]|Monogenic diabetes [RCV003325946] Chr7:44145161..44145162 [GRCh38]
Chr7:44184760..44184761 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain significance
NM_000162.5(GCK):c.1386G>T (p.Met462Ile) single nucleotide variant Hyperinsulinism due to glucokinase deficiency [RCV001162069]|Maturity onset diabetes mellitus in young [RCV002463596]|Maturity-onset diabetes of the young type 2 [RCV001162070]|Monogenic diabetes [RCV003325947]|Permanent neonatal diabetes mellitus [RCV001162072]|Transient Neonatal Diabetes, Recessive [RCV001162071]|Type 2 diabetes mellitus [RCV002496452]|not provided [RCV000711768]|not specified [RCV000029865] Chr7:44145148 [GRCh38]
Chr7:44184747 [GRCh37]
Chr7:7p13
likely pathogenic|likely benign|uncertain risk allele|uncertain significance
p.X466Trp single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV000029866] Chr7:7p13 likely pathogenic
NM_000162.5(GCK):c.146C>A (p.Thr49Asn) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV000029867]|Monogenic diabetes [RCV003325948] Chr7:44153363 [GRCh38]
Chr7:44192962 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain significance
NM_000162.5(GCK):c.175C>T (p.Pro59Ser) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV000029868]|not provided [RCV000518012] Chr7:44153334 [GRCh38]
Chr7:44192933 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_000162.5(GCK):c.208+11G>A single nucleotide variant Hyperinsulinism due to glucokinase deficiency [RCV001162367]|Maturity-onset diabetes of the young type 2 [RCV000029869]|Permanent neonatal diabetes mellitus [RCV001162366]|Transient Neonatal Diabetes, Recessive [RCV001162365]|Type 2 diabetes mellitus [RCV001336705]|not provided [RCV002054493]|not specified [RCV000195056] Chr7:44153290 [GRCh38]
Chr7:44192889 [GRCh37]
Chr7:7p13
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000162.5(GCK):c.208+9T>A single nucleotide variant Maturity onset diabetes mellitus in young [RCV002465490]|Maturity-onset diabetes of the young type 2 [RCV000029870] Chr7:44153292 [GRCh38]
Chr7:44192891 [GRCh37]
Chr7:7p13
benign|uncertain significance
NM_000162.5(GCK):c.209-8G>A single nucleotide variant Hyperinsulinism due to glucokinase deficiency [RCV000302206]|Maturity-onset diabetes of the young type 2 [RCV000305726]|Permanent neonatal diabetes mellitus [RCV000359365]|Transient Neonatal Diabetes, Recessive [RCV000266999]|not provided [RCV000886070]|not specified [RCV000249810] Chr7:44152433 [GRCh38]
Chr7:44192032 [GRCh37]
Chr7:7p13
benign|likely benign|uncertain significance
NM_000162.5(GCK):c.214G>A (p.Gly72Arg) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002426523]|Maturity-onset diabetes of the young type 2 [RCV000029872]|Monogenic diabetes [RCV001248967]|not provided [RCV000255585] Chr7:44152420 [GRCh38]
Chr7:44192019 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_000162.5(GCK):c.253A>T (p.Arg85Trp) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002465491]|Maturity-onset diabetes of the young type 2 [RCV000029873] Chr7:44152381 [GRCh38]
Chr7:44191980 [GRCh37]
Chr7:7p13
likely pathogenic|likely risk allele
NM_000162.5(GCK):c.304A>T (p.Lys102Ter) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463997]|Maturity-onset diabetes of the young type 2 [RCV000029874] Chr7:44152330 [GRCh38]
Chr7:44191929 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_000162.5(GCK):c.322T>G (p.Tyr108Asp) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463998]|Maturity-onset diabetes of the young type 2 [RCV000029875] Chr7:44152312 [GRCh38]
Chr7:44191911 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain risk allele|uncertain significance
NM_000162.5(GCK):c.339C>T (p.Asp113=) single nucleotide variant Hyperinsulinism due to glucokinase deficiency [RCV000351983]|Maturity onset diabetes mellitus in young [RCV002319428]|Maturity-onset diabetes of the young type 2 [RCV000029876]|Permanent neonatal diabetes mellitus [RCV000294733]|Transient Neonatal Diabetes, Recessive [RCV000394689]|Type 2 diabetes mellitus [RCV002504829]|not provided [RCV000967046]|not specified [RCV000194993] Chr7:44152295 [GRCh38]
Chr7:44191894 [GRCh37]
Chr7:7p13
benign|likely benign|conflicting interpretations of pathogenicity
NM_000162.5(GCK):c.364-41dup duplication Maturity onset diabetes mellitus in young [RCV002463999]|Maturity-onset diabetes of the young type 2 [RCV000029877] Chr7:44151109..44151110 [GRCh38]
Chr7:44190708..44190709 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.364-49dup duplication Maturity onset diabetes mellitus in young [RCV002464000]|Maturity-onset diabetes of the young type 2 [RCV000029878] Chr7:44151122..44151123 [GRCh38]
Chr7:44190721..44190722 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.393del (p.Asp132fs) deletion Maturity onset diabetes mellitus in young [RCV002371785]|Maturity-onset diabetes of the young type 2 [RCV000029879] Chr7:44151046 [GRCh38]
Chr7:44190645 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_000162.5(GCK):c.440G>A (p.Gly147Asp) single nucleotide variant Monogenic diabetes [RCV001248972]|not specified [RCV002271379] Chr7:44150999 [GRCh38]
Chr7:44190598 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain significance
NM_000162.5(GCK):c.449T>C (p.Phe150Ser) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV000029881]|not provided [RCV000432293] Chr7:44150990 [GRCh38]
Chr7:44190589 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_000162.5(GCK):c.450C>T (p.Phe150=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464074]|Maturity-onset diabetes of the young type 2 [RCV000029883] Chr7:44150989 [GRCh38]
Chr7:44190588 [GRCh37]
Chr7:7p13
likely benign
NM_000162.5(GCK):c.457C>T (p.Pro153Ser) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002336092]|not provided [RCV000991335]|not specified [RCV000516927] Chr7:44150982 [GRCh38]
Chr7:44190581 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain significance
NM_000162.5(GCK):c.46-12C>T single nucleotide variant Hyperinsulinism due to glucokinase deficiency [RCV000344829]|Maturity onset diabetes mellitus in young [RCV002336093]|Maturity-onset diabetes of the young type 2 [RCV000029885]|Permanent neonatal diabetes mellitus [RCV000388709]|Transient Neonatal Diabetes, Recessive [RCV000296692]|not provided [RCV000711774]|not specified [RCV000194380] Chr7:44153475 [GRCh38]
Chr7:44193074 [GRCh37]
Chr7:7p13
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000162.5(GCK):c.463A>G (p.Arg155Gly) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002336094]|Maturity-onset diabetes of the young type 2 [RCV000029886]|not provided [RCV001753431] Chr7:44150976 [GRCh38]
Chr7:44190575 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain risk allele|uncertain significance
NM_000162.5(GCK):c.483G>A (p.Lys161=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464001]|Maturity-onset diabetes of the young type 2 [RCV000029887]|Monogenic diabetes [RCV003234538]|not provided [RCV003482231] Chr7:44150956 [GRCh38]
Chr7:44190555 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic|likely risk allele
NM_000162.5(GCK):c.509G>T (p.Gly170Val) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV000029888] Chr7:44150039 [GRCh38]
Chr7:44189638 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.527C>G (p.Ala176Gly) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463598]|Maturity-onset diabetes of the young type 2 [RCV000029889] Chr7:44150021 [GRCh38]
Chr7:44189620 [GRCh37]
Chr7:7p13
likely pathogenic|likely risk allele
NM_000162.5(GCK):c.532G>A (p.Gly178Arg) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463599]|Maturity-onset diabetes of the young type 2 [RCV000029890] Chr7:44150016 [GRCh38]
Chr7:44189615 [GRCh37]
Chr7:7p13
likely pathogenic|likely risk allele
NM_000162.5(GCK):c.542T>C (p.Val181Ala) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002345256]|Maturity-onset diabetes of the young type 2 [RCV000029891]|not provided [RCV000992053] Chr7:44150006 [GRCh38]
Chr7:44189605 [GRCh37]
Chr7:7p13
likely pathogenic|likely risk allele|uncertain significance
NM_000162.5(GCK):c.563C>T (p.Ala188Val) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463600]|Maturity-onset diabetes of the young type 2 [RCV000029892] Chr7:44149985 [GRCh38]
Chr7:44189584 [GRCh37]
Chr7:7p13
likely pathogenic|likely risk allele
NM_000162.5(GCK):c.57C>G (p.Ile19Met) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV000029893] Chr7:44153452 [GRCh38]
Chr7:44193051 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.587A>G (p.Glu196Gly) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463601]|Maturity-onset diabetes of the young type 2 [RCV000029894] Chr7:44149852 [GRCh38]
Chr7:44189451 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain risk allele
NM_000162.5(GCK):c.604A>G (p.Met202Val) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463602]|Maturity-onset diabetes of the young type 2 [RCV000029895] Chr7:44149835 [GRCh38]
Chr7:44189434 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain significance
NM_000162.5(GCK):c.605T>C (p.Met202Thr) single nucleotide variant Monogenic diabetes [RCV003445084]|not provided [RCV000711779]|not specified [RCV000029896] Chr7:44149834 [GRCh38]
Chr7:44189433 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic|uncertain significance
NM_000162.5(GCK):c.615C>G (p.Asp205Glu) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463603]|Maturity-onset diabetes of the young type 2 [RCV000029897]|not provided [RCV002513252] Chr7:44149824 [GRCh38]
Chr7:44189423 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain risk allele|uncertain significance
NM_000162.5(GCK):c.618G>A (p.Thr206=) single nucleotide variant Hyperinsulinism due to glucokinase deficiency [RCV000398402]|Maturity onset diabetes mellitus in young [RCV002319429]|Maturity-onset diabetes of the young type 2 [RCV000029898]|Permanent neonatal diabetes mellitus [RCV000311587]|Transient Neonatal Diabetes, Recessive [RCV000398687]|not provided [RCV000906581]|not specified [RCV000117133] Chr7:44149821 [GRCh38]
Chr7:44189420 [GRCh37]
Chr7:7p13
benign|likely benign|conflicting interpretations of pathogenicity
NM_000162.5(GCK):c.630G>T (p.Met210Ile) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002362597]|Maturity-onset diabetes of the young type 2 [RCV000029899]|Monogenic diabetes [RCV003318496] Chr7:44149809 [GRCh38]
Chr7:44189408 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic|uncertain risk allele|uncertain significance
NM_000162.5(GCK):c.635_637del (p.Ser212del) deletion Maturity onset diabetes mellitus in young [RCV002287347]|Maturity-onset diabetes of the young type 2 [RCV000029900]|not provided [RCV000482920] Chr7:44149802..44149804 [GRCh38]
Chr7:44189401..44189403 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain significance
NM_000162.5(GCK):c.645C>G (p.Tyr215Ter) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV000029901]|not provided [RCV000421286] Chr7:44149794 [GRCh38]
Chr7:44189393 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.658T>C (p.Cys220Arg) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV000029902]|Monogenic diabetes [RCV003445085] Chr7:44149781 [GRCh38]
Chr7:44189380 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.659G>A (p.Cys220Tyr) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002371786]|Maturity-onset diabetes of the young type 2 [RCV000029903] Chr7:44149780 [GRCh38]
Chr7:44189379 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.661G>A (p.Glu221Lys) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002371787]|Maturity-onset diabetes of the young type 2 [RCV000029904]|Monogenic diabetes [RCV003155041]|not provided [RCV000711781] Chr7:44149778 [GRCh38]
Chr7:44189377 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_000162.5(GCK):c.666C>T (p.Val222=) single nucleotide variant Hyperinsulinism due to glucokinase deficiency [RCV001162165]|Maturity onset diabetes mellitus in young [RCV002362598]|Maturity-onset diabetes of the young type 2 [RCV000029905]|Permanent neonatal diabetes mellitus [RCV001164186]|Transient Neonatal Diabetes, Recessive [RCV001162166]|Type 2 diabetes mellitus [RCV003335057]|not provided [RCV000927962]|not specified [RCV000516740] Chr7:44149773 [GRCh38]
Chr7:44189372 [GRCh37]
Chr7:7p13
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000162.5(GCK):c.676G>A (p.Val226Met) single nucleotide variant Maturity onset diabetes mellitus in young [RCV000825615]|Maturity-onset diabetes of the young type 2 [RCV000029906]|Monogenic diabetes [RCV003155042]|Type 2 diabetes mellitus [RCV002477021]|not provided [RCV000255932] Chr7:44149763 [GRCh38]
Chr7:44189362 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_000162.5(GCK):c.677T>C (p.Val226Ala) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463604]|Maturity-onset diabetes of the young type 2 [RCV000029907]|Monogenic diabetes [RCV003398574] Chr7:44149762 [GRCh38]
Chr7:44189361 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain risk allele
NM_000162.5(GCK):c.679+1del deletion Maturity onset diabetes mellitus in young [RCV002463605]|Maturity-onset diabetes of the young type 2 [RCV000029908] Chr7:44149759 [GRCh38]
Chr7:44189358 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.680-94dup duplication Maturity onset diabetes mellitus in young [RCV002463606]|Maturity-onset diabetes of the young type 2 [RCV000029909] Chr7:44147922..44147923 [GRCh38]
Chr7:44187521..44187522 [GRCh37]
Chr7:7p13
uncertain risk allele|uncertain significance
NM_000162.5(GCK):c.694G>A (p.Ala232Thr) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463607]|Maturity-onset diabetes of the young type 2 [RCV000029910] Chr7:44147819 [GRCh38]
Chr7:44187418 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain risk allele
NM_000162.5(GCK):c.704T>C (p.Met235Thr) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV000029911] Chr7:44147809 [GRCh38]
Chr7:44187408 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.723G>A (p.Val241=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463608]|Maturity-onset diabetes of the young type 2 [RCV000029912] Chr7:44147790 [GRCh38]
Chr7:44187389 [GRCh37]
Chr7:7p13
likely benign
NM_000162.5(GCK):c.74T>G (p.Leu25Arg) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464075]|Maturity-onset diabetes of the young type 2 [RCV000029913] Chr7:44153435 [GRCh38]
Chr7:44193034 [GRCh37]
Chr7:7p13
likely pathogenic|likely risk allele
NM_000162.5(GCK):c.752T>C (p.Met251Thr) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV000029914] Chr7:44147761 [GRCh38]
Chr7:44187360 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.758T>C (p.Val253Ala) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV000029915]|not provided [RCV002472937] Chr7:44147755 [GRCh38]
Chr7:44187354 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain significance
NM_000162.5(GCK):c.758T>G (p.Val253Gly) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463609]|Maturity-onset diabetes of the young type 2 [RCV000029916]|not provided [RCV002472938] Chr7:44147755 [GRCh38]
Chr7:44187354 [GRCh37]
Chr7:7p13
likely pathogenic|likely risk allele|uncertain significance
NM_000162.5(GCK):c.760A>C (p.Asn254His) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV000029917]|not provided [RCV001562130] Chr7:44147753 [GRCh38]
Chr7:44187352 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_000162.5(GCK):c.768G>C (p.Glu256Asp) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463610]|Maturity-onset diabetes of the young type 2 [RCV000029918] Chr7:44147745 [GRCh38]
Chr7:44187344 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain risk allele
NM_000162.5(GCK):c.76C>T (p.Gln26Ter) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002326691]|Maturity-onset diabetes of the young type 2 [RCV000029919]|not provided [RCV000255007] Chr7:44153433 [GRCh38]
Chr7:44193032 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000162.5(GCK):c.779T>C (p.Phe260Ser) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463611]|Maturity-onset diabetes of the young type 2 [RCV000029920] Chr7:44147734 [GRCh38]
Chr7:44187333 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.787T>C (p.Ser263Pro) single nucleotide variant Gestational diabetes [RCV000117135]|Maturity onset diabetes mellitus in young [RCV000826166]|Maturity-onset diabetes of the young type 2 [RCV000029921]|Type 2 diabetes mellitus [RCV002467500]|not provided [RCV000517906] Chr7:44147726 [GRCh38]
Chr7:44187325 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000162.5(GCK):c.812T>C (p.Leu271Pro) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463612]|Maturity-onset diabetes of the young type 2 [RCV000029922] Chr7:44147701 [GRCh38]
Chr7:44187300 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain risk allele
NM_000162.5(GCK):c.833A>T (p.Asp278Val) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463613]|Maturity-onset diabetes of the young type 2 [RCV000029923]|not provided [RCV000992065] Chr7:44147680 [GRCh38]
Chr7:44187279 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain significance
NM_000162.5(GCK):c.863+3A>G single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463614]|Maturity-onset diabetes of the young type 2 [RCV000029924]|not provided [RCV000518267] Chr7:44147647 [GRCh38]
Chr7:44187246 [GRCh37]
Chr7:7p13
conflicting interpretations of pathogenicity|uncertain risk allele|uncertain significance
GCK:c.864-159_864-149del deletion Maturity onset diabetes mellitus in young [RCV002463615]|Maturity-onset diabetes of the young type 2 [RCV000029925] Chr7:44146767..44146777 [GRCh38]
Chr7:44186366..44186376 [GRCh37]
Chr7:7p13
likely benign|uncertain significance
NM_000162.5(GCK):c.871A>T (p.Lys291Ter) single nucleotide variant Diabetes mellitus [RCV002285138]|Maturity-onset diabetes of the young type 2 [RCV000029926]|Type 2 diabetes mellitus [RCV002490414]|not provided [RCV000521942] Chr7:44146611 [GRCh38]
Chr7:44186210 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_000162.5(GCK):c.907C>T (p.Arg303Trp) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002371788]|Maturity-onset diabetes of the young type 2 [RCV000029927]|not provided [RCV000711788] Chr7:44146575 [GRCh38]
Chr7:44186174 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.917T>C (p.Leu306Pro) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002444445]|Maturity-onset diabetes of the young type 2 [RCV000029928]|not provided [RCV000992070] Chr7:44146565 [GRCh38]
Chr7:44186164 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain significance
NM_000162.5(GCK):c.944T>A (p.Leu315His) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV000029929]|not provided [RCV001818187] Chr7:44146538 [GRCh38]
Chr7:44186137 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.947T>A (p.Phe316Tyr) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463616]|Maturity-onset diabetes of the young type 2 [RCV000029930] Chr7:44146535 [GRCh38]
Chr7:44186134 [GRCh37]
Chr7:7p13
likely pathogenic|likely risk allele
NM_000162.5(GCK):c.952G>T (p.Gly318Trp) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002371789]|Maturity-onset diabetes of the young type 2 [RCV000029931]|not provided [RCV002472939] Chr7:44146530 [GRCh38]
Chr7:44186129 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain significance
NM_000162.5(GCK):c.954G>C (p.Gly318=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002326692]|Maturity-onset diabetes of the young type 2 [RCV000029932]|Type 2 diabetes mellitus [RCV002504830]|not provided [RCV000896007]|not specified [RCV000250733] Chr7:44146528 [GRCh38]
Chr7:44186127 [GRCh37]
Chr7:7p13
benign|likely benign
NM_000162.5(GCK):c.971T>C (p.Leu324Pro) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV000029933]|not provided [RCV003482232] Chr7:44146511 [GRCh38]
Chr7:44186110 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
Single allele duplication Maturity-onset diabetes of the young type 2 [RCV000029934] Chr7:7p13 likely pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7p14.1-12.3(chr7:39814159-45749735)x1 copy number loss See cases [RCV000053132] Chr7:39814159..45749735 [GRCh38]
Chr7:39853758..45789334 [GRCh37]
Chr7:39820283..45755859 [NCBI36]
Chr7:7p14.1-12.3
pathogenic
GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3 copy number gain See cases [RCV000053532] Chr7:33328312..62377476 [GRCh38]
Chr7:33367924..61831899 [GRCh37]
Chr7:33334449..61469334 [NCBI36]
Chr7:7p14.3-q11.21
pathogenic
NM_000162.5(GCK):c.130G>A (p.Gly44Ser) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV002285265]|not provided [RCV000992045] Chr7:44153379 [GRCh38]
Chr7:44192978 [GRCh37]
Chr7:44159503 [NCBI36]
Chr7:7p13
pathogenic|likely pathogenic|not provided
NM_000162.3(GCK):c.1329G>A (p.Glu443=) single nucleotide variant Malignant melanoma [RCV000061652] Chr7:44145205 [GRCh38]
Chr7:44184804 [GRCh37]
Chr7:44151329 [NCBI36]
Chr7:7p13
not provided
NM_000162.3(GCK):c.635C>T (p.Ser212Phe) single nucleotide variant Malignant melanoma [RCV000061653] Chr7:44149804 [GRCh38]
Chr7:44189403 [GRCh37]
Chr7:44155928 [NCBI36]
Chr7:7p13
not provided
NM_000162.5(GCK):c.1112G>T (p.Cys371Phe) single nucleotide variant Gestational diabetes [RCV000117127]|Monogenic diabetes [RCV003325949] Chr7:44145638 [GRCh38]
Chr7:44185237 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic|uncertain significance
NM_000162.5(GCK):c.31G>A (p.Ala11Thr) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002321595]|Monogenic diabetes [RCV000445425]|not provided [RCV000428003]|not specified [RCV000117128] Chr7:44188923 [GRCh38]
Chr7:44228522 [GRCh37]
Chr7:7p13
benign|likely benign|conflicting interpretations of pathogenicity
NM_000162.5(GCK):c.449T>A (p.Phe150Tyr) single nucleotide variant Monogenic diabetes [RCV003226201]|not provided [RCV000117129] Chr7:44150990 [GRCh38]
Chr7:44190589 [GRCh37]
Chr7:7p13
pathogenic|uncertain significance
NM_000162.5(GCK):c.523G>A (p.Gly175Arg) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002336252]|Monogenic diabetes [RCV003318498]|not provided [RCV000117130] Chr7:44150025 [GRCh38]
Chr7:44189624 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic|uncertain significance
NM_000162.5(GCK):c.544G>A (p.Val182Met) single nucleotide variant Gestational diabetes [RCV000117131]|Maturity onset diabetes mellitus in young [RCV002345419]|Maturity-onset diabetes of the young type 2 [RCV001248908]|Permanent neonatal diabetes mellitus [RCV000763586]|not provided [RCV000255191] Chr7:44150004 [GRCh38]
Chr7:44189603 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.616A>C (p.Thr206Pro) single nucleotide variant Gestational diabetes [RCV000117132]|Maturity onset diabetes mellitus in young [RCV003343641]|Monogenic diabetes [RCV001844042]|not provided [RCV000497903] Chr7:44149823 [GRCh38]
Chr7:44189422 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_000162.5(GCK):c.706G>A (p.Glu236Lys) single nucleotide variant Gestational diabetes [RCV000117134] Chr7:44147807 [GRCh38]
Chr7:44187406 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.1253+8C>T single nucleotide variant Hyperinsulinism due to glucokinase deficiency [RCV000291162]|Maturity onset diabetes mellitus in young [RCV002227062]|Maturity-onset diabetes of the young type 2 [RCV000285372]|Permanent neonatal diabetes mellitus [RCV000377488]|Transient Neonatal Diabetes, Recessive [RCV000320390]|not provided [RCV001518341]|not specified [RCV000117136] Chr7:44145489 [GRCh38]
Chr7:44185088 [GRCh37]
Chr7:7p13
benign|likely benign|conflicting interpretations of pathogenicity
NM_000162.5(GCK):c.576A>C (p.Arg192Ser) single nucleotide variant not provided [RCV003223813] Chr7:44149972 [GRCh38]
Chr7:44189571 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.118G>A (p.Glu40Lys) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV003388832]|not provided [RCV000175536] Chr7:44153391 [GRCh38]
Chr7:44192990 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7p14.1-11.2(chr7:40534157-56107122)x1 copy number loss See cases [RCV000136092] Chr7:40534157..56107122 [GRCh38]
Chr7:40573756..56174815 [GRCh37]
Chr7:40540281..56142309 [NCBI36]
Chr7:7p14.1-11.2
pathogenic
GRCh38/hg38 7p14.1-12.1(chr7:40020598-50543500)x1 copy number loss See cases [RCV000136904] Chr7:40020598..50543500 [GRCh38]
Chr7:40060197..50611198 [GRCh37]
Chr7:40026722..50578692 [NCBI36]
Chr7:7p14.1-12.1
pathogenic
GRCh38/hg38 7p14.1-12.3(chr7:37303478-48660738)x1 copy number loss See cases [RCV000137139] Chr7:37303478..48660738 [GRCh38]
Chr7:37343082..48700334 [GRCh37]
Chr7:37309607..48670880 [NCBI36]
Chr7:7p14.1-12.3
pathogenic
GRCh38/hg38 7p14.1-13(chr7:39063400-45363096)x1 copy number loss See cases [RCV000137305] Chr7:39063400..45363096 [GRCh38]
Chr7:39103000..45402695 [GRCh37]
Chr7:39069525..45369220 [NCBI36]
Chr7:7p14.1-13
pathogenic
GRCh38/hg38 7p14.1-13(chr7:38177999-45304100)x1 copy number loss See cases [RCV000142297] Chr7:38177999..45304100 [GRCh38]
Chr7:38217601..45343699 [GRCh37]
Chr7:38184126..45310224 [NCBI36]
Chr7:7p14.1-13
pathogenic
NM_000162.5(GCK):c.735G>A (p.Glu245=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463659]|not specified [RCV000192589] Chr7:44147778 [GRCh38]
Chr7:44187377 [GRCh37]
Chr7:7p13
benign|likely benign|uncertain significance
NM_000162.5(GCK):c.784G>A (p.Asp262Asn) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463660]|Type 2 diabetes mellitus [RCV002478669]|not specified [RCV000193049] Chr7:44147729 [GRCh38]
Chr7:44187328 [GRCh37]
Chr7:7p13
uncertain risk allele|uncertain significance
NM_000162.5(GCK):c.370G>A (p.Asp124Asn) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464011]|Maturity-onset diabetes of the young type 2 [RCV000193215]|Monogenic diabetes [RCV001248968]|not provided [RCV000518229] Chr7:44151069 [GRCh38]
Chr7:44190668 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic|likely risk allele|conflicting interpretations of pathogenicity|uncertain significance
NM_000162.5(GCK):c.333C>T (p.Pro111=) single nucleotide variant Hyperinsulinism due to glucokinase deficiency [RCV000308226]|Maturity onset diabetes mellitus in young [RCV002321774]|Maturity-onset diabetes of the young type 2 [RCV000394688]|Permanent neonatal diabetes mellitus [RCV000365187]|Transient Neonatal Diabetes, Recessive [RCV000402147]|Type 2 diabetes mellitus [RCV002503754]|not provided [RCV000908991]|not specified [RCV000194163] Chr7:44152301 [GRCh38]
Chr7:44191900 [GRCh37]
Chr7:7p13
benign|likely benign|conflicting interpretations of pathogenicity
NM_000162.5(GCK):c.601G>T (p.Ala201Ser) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002354464]|Maturity-onset diabetes of the young type 2 [RCV002272161]|not provided [RCV000711778] Chr7:44149838 [GRCh38]
Chr7:44189437 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000162.5(GCK):c.688T>C (p.Cys230Arg) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463657]|Maturity-onset diabetes of the young type 2 [RCV002051823]|Monogenic diabetes [RCV003445614]|not provided [RCV000711783]|not specified [RCV002509283] Chr7:44147825 [GRCh38]
Chr7:44187424 [GRCh37]
Chr7:7p13
likely pathogenic|conflicting interpretations of pathogenicity|uncertain risk allele|uncertain significance
NM_000162.5(GCK):c.*477C>T single nucleotide variant Hyperinsulinism due to glucokinase deficiency [RCV000259194]|Maturity onset diabetes mellitus in young [RCV002319490]|Maturity-onset diabetes of the young type 2 [RCV000361041]|Permanent neonatal diabetes mellitus [RCV000304023]|Transient Neonatal Diabetes, Recessive [RCV000316828]|not provided [RCV001643090] Chr7:44144659 [GRCh38]
Chr7:44184258 [GRCh37]
Chr7:7p13
benign
NM_000162.5(GCK):c.835G>C (p.Glu279Gln) single nucleotide variant Monogenic diabetes [RCV003313054]|Type 2 diabetes mellitus [RCV003335189]|not provided [RCV000880473]|not specified [RCV000194319] Chr7:44147678 [GRCh38]
Chr7:44187277 [GRCh37]
Chr7:7p13
benign|likely benign|uncertain significance
NM_000162.5(GCK):c.317_333del (p.Gln106fs) deletion Maturity onset diabetes mellitus in young [RCV002464140]|Maturity-onset diabetes of the young type 2 [RCV000193318] Chr7:44152301..44152317 [GRCh38]
Chr7:44191900..44191916 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_000162.5(GCK):c.1030G>T (p.Asp344Tyr) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463661]|Maturity-onset diabetes of the young type 2 [RCV000203555] Chr7:44145720 [GRCh38]
Chr7:44185319 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain significance
NM_000162.5(GCK):c.951C>G (p.His317Gln) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV002285351]|Type 2 diabetes mellitus [RCV002476041]|not provided [RCV000516618]|not specified [RCV003235263] Chr7:44146531 [GRCh38]
Chr7:44186130 [GRCh37]
Chr7:7p13
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000162.5(GCK):c.112C>T (p.Gln38Ter) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464012]|Maturity-onset diabetes of the young type 2 [RCV000225041]|not provided [RCV002516247] Chr7:44153397 [GRCh38]
Chr7:44192996 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_000162.5(GCK):c.89T>C (p.Leu30Pro) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV000223803] Chr7:44153420 [GRCh38]
Chr7:44193019 [GRCh37]
Chr7:7p13
likely pathogenic|benign
NM_000162.5(GCK):c.1148C>T (p.Ser383Leu) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV000225001]|Monogenic diabetes [RCV003226260]|not provided [RCV000420976] Chr7:44145602 [GRCh38]
Chr7:44185201 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic|benign|conflicting interpretations of pathogenicity
NM_000162.5(GCK):c.989T>C (p.Phe330Ser) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463723]|Maturity-onset diabetes of the young type 2 [RCV000625570] Chr7:44146493 [GRCh38]
Chr7:44186092 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain significance
NM_000162.5(GCK):c.1155dup (p.Leu386fs) duplication not provided [RCV000516765] Chr7:44145594..44145595 [GRCh38]
Chr7:44185193..44185194 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.769T>C (p.Trp257Arg) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463706]|not provided [RCV000516870] Chr7:44147744 [GRCh38]
Chr7:44187343 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_000162.5(GCK):c.763_779dup (p.Phe260fs) duplication Maturity onset diabetes mellitus in young [RCV002463705]|not provided [RCV000518045] Chr7:44147733..44147734 [GRCh38]
Chr7:44187332..44187333 [GRCh37]
Chr7:7p13
pathogenic|uncertain risk allele
NM_000162.5(GCK):c.757G>T (p.Val253Phe) single nucleotide variant not provided [RCV000519193] Chr7:44147756 [GRCh38]
Chr7:44187355 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.580-1G>A single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV002285354]|not provided [RCV000519932] Chr7:44149860 [GRCh38]
Chr7:44189459 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.1268T>C (p.Phe423Ser) single nucleotide variant not specified [RCV000516995] Chr7:44145266 [GRCh38]
Chr7:44184865 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.469G>A (p.Glu157Lys) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002341208]|Type 2 diabetes mellitus [RCV002496997]|not provided [RCV000517004] Chr7:44150970 [GRCh38]
Chr7:44190569 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000162.5(GCK):c.1255T>C (p.Phe419Leu) single nucleotide variant GCK-related condition [RCV003419896]|Maturity onset diabetes mellitus in young [RCV002463697]|Monogenic diabetes [RCV003325961]|not specified [RCV000518696] Chr7:44145279 [GRCh38]
Chr7:44184878 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain significance
NM_000162.5(GCK):c.762T>A (p.Asn254Lys) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463716]|not provided [RCV000521168] Chr7:44147751 [GRCh38]
Chr7:44187350 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain risk allele
NM_000162.5(GCK):c.766G>A (p.Glu256Lys) single nucleotide variant Permanent neonatal diabetes mellitus [RCV000763583]|not provided [RCV000255753] Chr7:44147747 [GRCh38]
Chr7:44187346 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.645C>T (p.Tyr215=) single nucleotide variant Hyperinsulinism due to glucokinase deficiency [RCV000394978]|Maturity onset diabetes mellitus in young [RCV002365255]|Maturity-onset diabetes of the young type 2 [RCV000280005]|Permanent neonatal diabetes mellitus [RCV000342725]|Transient Neonatal Diabetes, Recessive [RCV000337358]|not provided [RCV000419746]|not specified [RCV000246889] Chr7:44149794 [GRCh38]
Chr7:44189393 [GRCh37]
Chr7:7p13
benign|likely benign
NM_000162.5(GCK):c.*11C>T single nucleotide variant Hyperinsulinism due to glucokinase deficiency [RCV000370358]|Maturity onset diabetes mellitus in young [RCV002463666]|Maturity-onset diabetes of the young type 2 [RCV000326074]|Permanent neonatal diabetes mellitus [RCV000383024]|Transient Neonatal Diabetes, Recessive [RCV000268765]|not specified [RCV000249274] Chr7:44145125 [GRCh38]
Chr7:44184724 [GRCh37]
Chr7:7p13
benign|likely benign|uncertain significance
NM_000162.5(GCK):c.533G>A (p.Gly178Glu) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV001844105]|not provided [RCV000256137] Chr7:44150015 [GRCh38]
Chr7:44189614 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_000162.5(GCK):c.1144T>C (p.Cys382Arg) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463695]|Monogenic diabetes [RCV003318501]|not provided [RCV002525034]|not specified [RCV000517422] Chr7:44145606 [GRCh38]
Chr7:44185205 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic|uncertain significance
NM_000162.5(GCK):c.393C>T (p.Ser131=) single nucleotide variant Hyperinsulinism due to glucokinase deficiency [RCV000363704]|Maturity onset diabetes mellitus in young [RCV002464190]|Maturity-onset diabetes of the young type 2 [RCV000306704]|Permanent neonatal diabetes mellitus [RCV000328974]|Transient Neonatal Diabetes, Recessive [RCV000271510] Chr7:44151046 [GRCh38]
Chr7:44190645 [GRCh37]
Chr7:7p13
benign|likely benign|uncertain significance
NM_000162.5(GCK):c.213C>T (p.Val71=) single nucleotide variant Hyperinsulinism due to glucokinase deficiency [RCV001160746]|Maturity onset diabetes mellitus in young [RCV002431478]|Maturity-onset diabetes of the young type 2 [RCV001160744]|Permanent neonatal diabetes mellitus [RCV001160747]|Transient Neonatal Diabetes, Recessive [RCV001160745]|not provided [RCV000898825]|not specified [RCV000517450] Chr7:44152421 [GRCh38]
Chr7:44192020 [GRCh37]
Chr7:7p13
benign|likely benign|uncertain significance
NM_000162.5(GCK):c.129C>T (p.Arg43=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002465603]|not specified [RCV000245045] Chr7:44153380 [GRCh38]
Chr7:44192979 [GRCh37]
Chr7:7p13
benign|likely benign
NM_000162.5(GCK):c.*92C>A single nucleotide variant Hyperinsulinism due to glucokinase deficiency [RCV000367676]|Maturity onset diabetes mellitus in young [RCV002319491]|Maturity-onset diabetes of the young type 2 [RCV000275570]|Permanent neonatal diabetes mellitus [RCV000301261]|Transient Neonatal Diabetes, Recessive [RCV000332946]|not provided [RCV001662336] Chr7:44145044 [GRCh38]
Chr7:44184643 [GRCh37]
Chr7:7p13
benign|likely benign
NM_000162.5(GCK):c.*735C>A single nucleotide variant Hyperinsulinism due to glucokinase deficiency [RCV000363301]|Maturity onset diabetes mellitus in young [RCV002463444]|Maturity-onset diabetes of the young type 2 [RCV000399621]|Permanent neonatal diabetes mellitus [RCV000313319]|Transient Neonatal Diabetes, Recessive [RCV000268687] Chr7:44144401 [GRCh38]
Chr7:44184000 [GRCh37]
Chr7:7p13
benign|likely benign
NM_000162.5(GCK):c.*297T>G single nucleotide variant Hyperinsulinism due to glucokinase deficiency [RCV000341889]|Maturity onset diabetes mellitus in young [RCV002463675]|Maturity-onset diabetes of the young type 2 [RCV000347800]|Permanent neonatal diabetes mellitus [RCV000397044]|Transient Neonatal Diabetes, Recessive [RCV000303301] Chr7:44144839 [GRCh38]
Chr7:44184438 [GRCh37]
Chr7:7p13
benign|likely benign
NM_000162.5(GCK):c.*332G>A single nucleotide variant Hyperinsulinism due to glucokinase deficiency [RCV000382811]|Maturity-onset diabetes of the young type 2 [RCV000296546]|Permanent neonatal diabetes mellitus [RCV000344515]|Transient Neonatal Diabetes, Recessive [RCV000290517] Chr7:44144804 [GRCh38]
Chr7:44184403 [GRCh37]
Chr7:7p13
benign
NM_000162.5(GCK):c.*847G>A single nucleotide variant Hyperinsulinism due to glucokinase deficiency [RCV000300632]|Maturity onset diabetes mellitus in young [RCV002319483]|Maturity-onset diabetes of the young type 2 [RCV000392969]|Permanent neonatal diabetes mellitus [RCV000355358]|Transient Neonatal Diabetes, Recessive [RCV000274710] Chr7:44144289 [GRCh38]
Chr7:44183888 [GRCh37]
Chr7:7p13
benign|likely benign
NM_000162.5(GCK):c.*797C>T single nucleotide variant Hyperinsulinism due to glucokinase deficiency [RCV000291640]|Maturity onset diabetes mellitus in young [RCV002328876]|Maturity-onset diabetes of the young type 2 [RCV000327896]|Permanent neonatal diabetes mellitus [RCV000377801]|Transient Neonatal Diabetes, Recessive [RCV000381697]|not provided [RCV001643089] Chr7:44144339 [GRCh38]
Chr7:44183938 [GRCh37]
Chr7:7p13
benign|likely benign
NM_000162.5(GCK):c.198A>G (p.Pro66=) single nucleotide variant Hyperinsulinism, Dominant [RCV000319026]|Maturity onset diabetes mellitus in young [RCV000274473]|Permanent neonatal diabetes mellitus [RCV000376035]|Transient Neonatal Diabetes, Recessive [RCV000261439] Chr7:44153311 [GRCh38]
Chr7:44192910 [GRCh37]
Chr7:7p13
conflicting interpretations of pathogenicity|uncertain significance
NM_000162.5(GCK):c.363+10G>A single nucleotide variant Hyperinsulinism due to glucokinase deficiency [RCV000278110]|Maturity onset diabetes mellitus in young [RCV002464014]|Maturity-onset diabetes of the young type 2 [RCV000281644]|Permanent neonatal diabetes mellitus [RCV000373736]|Transient Neonatal Diabetes, Recessive [RCV000316891]|not provided [RCV000903602]|not specified [RCV000517228] Chr7:44152261 [GRCh38]
Chr7:44191860 [GRCh37]
Chr7:7p13
benign|likely benign|uncertain significance
NM_000162.5(GCK):c.*356G>A single nucleotide variant Hyperinsulinism due to glucokinase deficiency [RCV000373979]|Maturity onset diabetes mellitus in young [RCV002463674]|Maturity-onset diabetes of the young type 2 [RCV000386654]|Permanent neonatal diabetes mellitus [RCV000262887]|Transient Neonatal Diabetes, Recessive [RCV000329863] Chr7:44144780 [GRCh38]
Chr7:44184379 [GRCh37]
Chr7:7p13
benign|likely benign
NM_000162.5(GCK):c.*764C>T single nucleotide variant Hyperinsulinism due to glucokinase deficiency [RCV000343547]|Maturity onset diabetes mellitus in young [RCV002319485]|Maturity-onset diabetes of the young type 2 [RCV000280315]|Permanent neonatal diabetes mellitus [RCV000394943]|Transient Neonatal Diabetes, Recessive [RCV000283845] Chr7:44144372 [GRCh38]
Chr7:44183971 [GRCh37]
Chr7:7p13
benign|likely benign|uncertain significance
NM_000162.5(GCK):c.*678G>T single nucleotide variant Hyperinsulinism due to glucokinase deficiency [RCV000338438]|Maturity onset diabetes mellitus in young [RCV002319488]|Maturity-onset diabetes of the young type 2 [RCV000281095]|Permanent neonatal diabetes mellitus [RCV000385917]|Transient Neonatal Diabetes, Recessive [RCV000293959] Chr7:44144458 [GRCh38]
Chr7:44184057 [GRCh37]
Chr7:7p13
benign|likely benign|uncertain significance
NM_000162.5(GCK):c.*510C>T single nucleotide variant Hyperinsulinism due to glucokinase deficiency [RCV000401879]|Maturity onset diabetes mellitus in young [RCV002463673]|Maturity-onset diabetes of the young type 2 [RCV000310072]|Permanent neonatal diabetes mellitus [RCV000265579]|Transient Neonatal Diabetes, Recessive [RCV000357879] Chr7:44144626 [GRCh38]
Chr7:44184225 [GRCh37]
Chr7:7p13
benign|likely benign
NM_000162.5(GCK):c.363+10G>C single nucleotide variant Hyperinsulinism due to glucokinase deficiency [RCV000323044]|Maturity-onset diabetes of the young type 2 [RCV000357810]|Permanent neonatal diabetes mellitus [RCV000265645]|Transient Neonatal Diabetes, Recessive [RCV000379948] Chr7:44152261 [GRCh38]
Chr7:44191860 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.*759del deletion Hyperinsulinism, Dominant [RCV000368903]|Maturity onset diabetes mellitus in young [RCV000335205]|Permanent neonatal diabetes mellitus [RCV000300132]|Transient Neonatal Diabetes, Recessive [RCV000402400]|not provided [RCV001613201] Chr7:44144377 [GRCh38]
Chr7:44183976 [GRCh37]
Chr7:7p13
benign
NM_000162.5(GCK):c.1163dup (p.Val389fs) duplication Maturity onset diabetes mellitus in young [RCV002463671]|not provided [RCV000297077] Chr7:44145586..44145587 [GRCh38]
Chr7:44185185..44185186 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_000162.5(GCK):c.572G>A (p.Arg191Gln) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002347992]|Maturity-onset diabetes of the young type 2 [RCV002285302]|Monogenic diabetes [RCV002222471]|not provided [RCV000711776] Chr7:44149976 [GRCh38]
Chr7:44189575 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000162.5(GCK):c.148dup (p.His50fs) duplication Maturity onset diabetes mellitus in young [RCV002465607]|not provided [RCV000320367] Chr7:44153360..44153361 [GRCh38]
Chr7:44192959..44192960 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_000162.5(GCK):c.*270C>T single nucleotide variant Hyperinsulinism due to glucokinase deficiency [RCV000262713]|Maturity onset diabetes mellitus in young [RCV002463676]|Maturity-onset diabetes of the young type 2 [RCV000297867]|Permanent neonatal diabetes mellitus [RCV000399430]|Transient Neonatal Diabetes, Recessive [RCV000355166] Chr7:44144866 [GRCh38]
Chr7:44184465 [GRCh37]
Chr7:7p13
benign|uncertain significance
NM_000162.5(GCK):c.*723A>G single nucleotide variant Hyperinsulinism due to glucokinase deficiency [RCV000265397]|Maturity onset diabetes mellitus in young [RCV002319486]|Maturity-onset diabetes of the young type 2 [RCV000364682]|Permanent neonatal diabetes mellitus [RCV000320470]|Transient Neonatal Diabetes, Recessive [RCV000328632] Chr7:44144413 [GRCh38]
Chr7:44184012 [GRCh37]
Chr7:7p13
benign|uncertain significance
NM_000162.5(GCK):c.*844A>C single nucleotide variant Hyperinsulinism due to glucokinase deficiency [RCV000276649]|Maturity onset diabetes mellitus in young [RCV002319484]|Maturity-onset diabetes of the young type 2 [RCV000330528]|Permanent neonatal diabetes mellitus [RCV000327045]|Transient Neonatal Diabetes, Recessive [RCV000371132] Chr7:44144292 [GRCh38]
Chr7:44183891 [GRCh37]
Chr7:7p13
benign|uncertain significance
NM_000162.5(GCK):c.*721C>T single nucleotide variant Hyperinsulinism due to glucokinase deficiency [RCV000379822]|Maturity onset diabetes mellitus in young [RCV002319487]|Maturity-onset diabetes of the young type 2 [RCV000317160]|Permanent neonatal diabetes mellitus [RCV000371812]|Transient Neonatal Diabetes, Recessive [RCV000266626] Chr7:44144415 [GRCh38]
Chr7:44184014 [GRCh37]
Chr7:7p13
benign|uncertain significance
NM_000162.5(GCK):c.434C>T (p.Pro145Leu) single nucleotide variant not provided [RCV001546887] Chr7:44151005 [GRCh38]
Chr7:44190604 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.238G>A (p.Gly80Ser) single nucleotide variant not provided [RCV000519805] Chr7:44152396 [GRCh38]
Chr7:44191995 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.995C>G (p.Thr332Arg) single nucleotide variant not provided [RCV000520175] Chr7:44146487 [GRCh38]
Chr7:44186086 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.484-2A>G single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV002285558] Chr7:44150066 [GRCh38]
Chr7:44189665 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.1033C>G (p.Arg345Gly) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463800]|not provided [RCV001880174]|not specified [RCV001269172] Chr7:44145717 [GRCh38]
Chr7:44185316 [GRCh37]
Chr7:7p13
uncertain risk allele|uncertain significance
NM_000162.5(GCK):c.571C>T (p.Arg191Trp) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002350083]|Maturity-onset diabetes of the young type 2 [RCV000754816]|Monogenic diabetes [RCV003318499]|Type 2 diabetes mellitus [RCV002496884]|not provided [RCV000490143] Chr7:44149977 [GRCh38]
Chr7:44189576 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_000162.5(GCK):c.330C>G (p.Ile110Met) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464018]|not specified [RCV000516269] Chr7:44152304 [GRCh38]
Chr7:44191903 [GRCh37]
Chr7:7p13
uncertain risk allele|uncertain significance
NM_000162.5(GCK):c.1113C>G (p.Cys371Trp) single nucleotide variant Monogenic diabetes [RCV003325960]|not provided [RCV000516323] Chr7:44145637 [GRCh38]
Chr7:44185236 [GRCh37]
Chr7:7p13
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000162.5(GCK):c.820G>C (p.Asp274His) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463708]|not specified [RCV000516582] Chr7:44147693 [GRCh38]
Chr7:44187292 [GRCh37]
Chr7:7p13
likely risk allele|uncertain significance
NM_000162.5(GCK):c.830T>G (p.Val277Gly) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463709]|not specified [RCV000517377] Chr7:44147683 [GRCh38]
Chr7:44187282 [GRCh37]
Chr7:7p13
likely risk allele|uncertain significance
NM_000162.5(GCK):c.*548G>A single nucleotide variant Hyperinsulinism due to glucokinase deficiency [RCV000306782]|Maturity onset diabetes mellitus in young [RCV002319489]|Maturity-onset diabetes of the young type 2 [RCV000351096]|Permanent neonatal diabetes mellitus [RCV000401535]|Transient Neonatal Diabetes, Recessive [RCV000345260] Chr7:44144588 [GRCh38]
Chr7:44184187 [GRCh37]
Chr7:7p13
benign|uncertain significance
NM_000162.5(GCK):c.802G>A (p.Glu268Lys) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463707]|Monogenic diabetes [RCV003403215]|not provided [RCV001851438] Chr7:44147711 [GRCh38]
Chr7:44187310 [GRCh37]
Chr7:7p13
pathogenic|uncertain risk allele|uncertain significance
NM_000162.5(GCK):c.730G>A (p.Val244Met) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002384012]|not provided [RCV000522866] Chr7:44147783 [GRCh38]
Chr7:44187382 [GRCh37]
Chr7:7p13
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000162.5(GCK):c.483+2T>C single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464026]|Maturity-onset diabetes of the young type 2 [RCV002285369]|not provided [RCV000579201] Chr7:44150954 [GRCh38]
Chr7:44190553 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_000162.5(GCK):c.660C>T (p.Cys220=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002331016]|not provided [RCV000883078]|not specified [RCV000591848] Chr7:44149779 [GRCh38]
Chr7:44189378 [GRCh37]
Chr7:7p13
benign|likely benign|conflicting interpretations of pathogenicity
NM_000162.5(GCK):c.1155del (p.Leu386fs) deletion Hyperinsulinism due to glucokinase deficiency [RCV003147513]|Maturity onset diabetes mellitus in young [RCV002287429]|Maturity-onset diabetes of the young type 2 [RCV003147514]|Permanent neonatal diabetes mellitus 1 [RCV003147515]|Type 2 diabetes mellitus [RCV003147512]|not provided [RCV000598690] Chr7:44145595 [GRCh38]
Chr7:44185194 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic|uncertain risk allele
NM_000162.5(GCK):c.623C>T (p.Ala208Val) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002367713]|not provided [RCV000517275] Chr7:44149816 [GRCh38]
Chr7:44189415 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 7p13(chr7:43884184-44297732)x3 copy number gain not provided [RCV000584852] Chr7:43884184..44297732 [GRCh37]
Chr7:7p13
likely benign
NM_000162.5(GCK):c.770G>A (p.Trp257Ter) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463737]|not provided [RCV000734686] Chr7:44147743 [GRCh38]
Chr7:44187342 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.1113C>A (p.Cys371Ter) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV000754805]|Monogenic diabetes [RCV003325973]|not provided [RCV001662802] Chr7:44145637 [GRCh38]
Chr7:44185236 [GRCh37]
Chr7:7p13
pathogenic
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p14.1-12.3(chr7:40350383-47034422)x1 copy number loss See cases [RCV000446941] Chr7:40350383..47034422 [GRCh37]
Chr7:7p14.1-12.3
pathogenic
GRCh37/hg19 7p14.3-13(chr7:32911003-44576005)x1 copy number loss See cases [RCV000446955] Chr7:32911003..44576005 [GRCh37]
Chr7:7p14.3-13
pathogenic
NM_000162.5(GCK):c.680-1G>A single nucleotide variant Maturity onset diabetes mellitus in young [RCV002319498]|Maturity-onset diabetes of the young type 2 [RCV000754801]|Monogenic diabetes [RCV000445383]|not provided [RCV001289442] Chr7:44147834 [GRCh38]
Chr7:44187433 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_000162.5(GCK):c.1016A>G (p.Glu339Gly) single nucleotide variant Monogenic diabetes [RCV000445412] Chr7:44146466 [GRCh38]
Chr7:44186065 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.1361C>A (p.Ala454Glu) single nucleotide variant Monogenic diabetes [RCV000445420]|not provided [RCV001584122] Chr7:44145173 [GRCh38]
Chr7:44184772 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.128G>A (p.Arg43His) single nucleotide variant GCK-related condition [RCV003418141]|Maturity onset diabetes mellitus in young [RCV002379402]|Maturity-onset diabetes of the young type 2 [RCV002285330]|Monogenic diabetes [RCV000445457]|not provided [RCV000711763] Chr7:44153381 [GRCh38]
Chr7:44192980 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_000162.5(GCK):c.918_919delinsAT (p.Leu307Phe) indel Monogenic diabetes [RCV000445474] Chr7:44146563..44146564 [GRCh38]
Chr7:44186162..44186163 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.748C>T (p.Arg250Cys) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002393068]|Maturity-onset diabetes of the young type 2 [RCV000754803]|Monogenic diabetes [RCV000445484]|not provided [RCV000517148] Chr7:44147765 [GRCh38]
Chr7:44187364 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000162.5(GCK):c.1344del (p.Ala449fs) deletion Monogenic diabetes [RCV000445487] Chr7:44145190 [GRCh38]
Chr7:44184789 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_000162.5(GCK):c.122T>C (p.Met41Thr) single nucleotide variant Monogenic diabetes [RCV000445500]|not provided [RCV000992041] Chr7:44153387 [GRCh38]
Chr7:44192986 [GRCh37]
Chr7:7p13
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000162.5(GCK):c.1253+2T>A single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV000754802]|Monogenic diabetes [RCV000445532] Chr7:44145495 [GRCh38]
Chr7:44185094 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.74T>A (p.Leu25Gln) single nucleotide variant Monogenic diabetes [RCV000445551] Chr7:44153435 [GRCh38]
Chr7:44193034 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.1019+18G>A single nucleotide variant Type 2 diabetes mellitus [RCV002488878]|not provided [RCV000711755]|not specified [RCV000418514] Chr7:44146445 [GRCh38]
Chr7:44186044 [GRCh37]
Chr7:7p13
benign|likely benign
NM_000162.5(GCK):c.703A>G (p.Met235Val) single nucleotide variant not provided [RCV000419860] Chr7:44147810 [GRCh38]
Chr7:44187409 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_000162.5(GCK):c.9C>T (p.Asp3=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002379362]|Type 2 diabetes mellitus [RCV002506065]|not provided [RCV000992072]|not specified [RCV001821204] Chr7:44188945 [GRCh38]
Chr7:44228544 [GRCh37]
Chr7:7p13
benign|likely benign
NM_000162.5(GCK):c.464G>C (p.Arg155Thr) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464021]|not specified [RCV000518745] Chr7:44150975 [GRCh38]
Chr7:44190574 [GRCh37]
Chr7:7p13
uncertain risk allele|uncertain significance
NM_000162.5(GCK):c.364-1G>A single nucleotide variant Maturity onset diabetes mellitus in young [RCV002450985]|not provided [RCV000429688] Chr7:44151076 [GRCh38]
Chr7:44190675 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000162.5(GCK):c.171G>T (p.Met57Ile) single nucleotide variant not provided [RCV000431394] Chr7:44153338 [GRCh38]
Chr7:44192937 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.1099G>A (p.Val367Met) single nucleotide variant Monogenic diabetes [RCV003325955]|not provided [RCV000440624] Chr7:44145651 [GRCh38]
Chr7:44185250 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_000162.5(GCK):c.1339del (p.Arg447fs) deletion Monogenic diabetes [RCV003325957]|not provided [RCV000481054] Chr7:44145195 [GRCh38]
Chr7:44184794 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_000162.5(GCK):c.184G>A (p.Val62Met) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV000754817]|Monogenic diabetes [RCV003325956]|not provided [RCV000481874] Chr7:44153325 [GRCh38]
Chr7:44192924 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.355G>A (p.Ala119Thr) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464016]|not provided [RCV000479911] Chr7:44152279 [GRCh38]
Chr7:44191878 [GRCh37]
Chr7:7p13
uncertain risk allele|uncertain significance
NM_000162.5(GCK):c.137G>T (p.Arg46Met) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV002285338]|not provided [RCV000479996] Chr7:44153372 [GRCh38]
Chr7:44192971 [GRCh37]
Chr7:7p13
pathogenic|uncertain significance
NM_000162.5(GCK):c.757G>A (p.Val253Ile) single nucleotide variant not provided [RCV000482178] Chr7:44147756 [GRCh38]
Chr7:44187355 [GRCh37]
Chr7:7p13
likely pathogenic|conflicting interpretations of pathogenicity
GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3 copy number gain See cases [RCV000512091] Chr7:11048840..52863626 [GRCh37]
Chr7:7p21.3-12.1
pathogenic
NM_000162.5(GCK):c.435_436dup (p.Leu146fs) duplication not provided [RCV000484370] Chr7:44151002..44151003 [GRCh38]
Chr7:44190601..44190602 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.871A>G (p.Lys291Glu) single nucleotide variant not provided [RCV000485201] Chr7:44146611 [GRCh38]
Chr7:44186210 [GRCh37]
Chr7:7p13
likely pathogenic|conflicting interpretations of pathogenicity
NM_000162.5(GCK):c.766G>C (p.Glu256Gln) single nucleotide variant not provided [RCV000485821] Chr7:44147747 [GRCh38]
Chr7:44187346 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.171G>A (p.Met57Ile) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002402377]|not provided [RCV000479407] Chr7:44153338 [GRCh38]
Chr7:44192937 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.431del (p.Leu144fs) deletion Maturity onset diabetes mellitus in young [RCV002464015]|not provided [RCV000479670] Chr7:44151008 [GRCh38]
Chr7:44190607 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_000162.5(GCK):c.1087G>A (p.Asp363Asn) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002431386]|not provided [RCV000479890] Chr7:44145663 [GRCh38]
Chr7:44185262 [GRCh37]
Chr7:7p13
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000162.5(GCK):c.113A>C (p.Gln38Pro) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV000754804]|Monogenic diabetes [RCV001731711]|not provided [RCV000480480] Chr7:44153396 [GRCh38]
Chr7:44192995 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000162.5(GCK):c.-135G>A single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463690]|not specified [RCV000500839] Chr7:44189088 [GRCh38]
Chr7:44228687 [GRCh37]
Chr7:7p13
benign|uncertain significance
NM_000162.5(GCK):c.749G>A (p.Arg250His) single nucleotide variant not specified [RCV000500949] Chr7:44147764 [GRCh38]
Chr7:44187363 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_000162.5(GCK):c.-102G>A single nucleotide variant Hyperinsulinism due to glucokinase deficiency [RCV001159483]|Maturity onset diabetes mellitus in young [RCV002463686]|Maturity-onset diabetes of the young type 2 [RCV001159481]|Permanent neonatal diabetes mellitus [RCV001159482]|Transient Neonatal Diabetes, Recessive [RCV001160841]|not specified [RCV000503948] Chr7:44189055 [GRCh38]
Chr7:44228654 [GRCh37]
Chr7:7p13
benign|uncertain significance
NM_000162.5(GCK):c.106C>T (p.Arg36Trp) single nucleotide variant Maturity onset diabetes mellitus in young [RCV000788107]|Maturity-onset diabetes of the young type 2 [RCV000503648]|Monogenic diabetes [RCV003403150]|not provided [RCV000497478] Chr7:44153403 [GRCh38]
Chr7:44193002 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000162.5(GCK):c.1165G>C (p.Val389Leu) single nucleotide variant Hyperinsulinism due to glucokinase deficiency [RCV000499682] Chr7:44145585 [GRCh38]
Chr7:44185184 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.3(GCK):c.-487C>G single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463689]|not specified [RCV000504402] Chr7:44189440 [GRCh38]
Chr7:44229039 [GRCh37]
Chr7:7p13
benign|uncertain significance
NM_000162.5(GCK):c.824G>A (p.Arg275His) single nucleotide variant not provided [RCV000497703]|not specified [RCV003479141] Chr7:44147689 [GRCh38]
Chr7:44187288 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.580-13T>A single nucleotide variant not provided [RCV000497725] Chr7:44149872 [GRCh38]
Chr7:44189471 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.-453C>T single nucleotide variant Hyperinsulinism due to glucokinase deficiency [RCV001160965]|Maturity onset diabetes mellitus in young [RCV002463688]|Maturity-onset diabetes of the young type 2 [RCV001160966]|Permanent neonatal diabetes mellitus [RCV001160964]|Transient Neonatal Diabetes, Recessive [RCV001160963]|not specified [RCV000502321] Chr7:44189406 [GRCh38]
Chr7:44229005 [GRCh37]
Chr7:7p13
benign|uncertain significance
NM_000162.5(GCK):c.45+3A>G single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463685]|not provided [RCV000497841] Chr7:44188906 [GRCh38]
Chr7:44228505 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.632T>A (p.Ile211Asn) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464217]|not specified [RCV000500071] Chr7:44149807 [GRCh38]
Chr7:44189406 [GRCh37]
Chr7:7p13
uncertain risk allele|uncertain significance
NM_000162.5(GCK):c.908G>A (p.Arg303Gln) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV000499613]|not provided [RCV002524187] Chr7:44146574 [GRCh38]
Chr7:44186173 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain significance
NM_000162.5(GCK):c.1322C>T (p.Ser441Leu) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV000499850]|Monogenic diabetes [RCV003313087]|not provided [RCV003482262] Chr7:44145212 [GRCh38]
Chr7:44184811 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain significance|no classifications from unflagged records
NM_000162.5(GCK):c.941T>C (p.Leu314Pro) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002376921]|Maturity-onset diabetes of the young type 2 [RCV000500565] Chr7:44146541 [GRCh38]
Chr7:44186140 [GRCh37]
Chr7:7p13
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000162.5(GCK):c.678_679+2del deletion Maturity onset diabetes mellitus in young [RCV002463692]|Maturity-onset diabetes of the young type 2 [RCV000501175] Chr7:44149758..44149761 [GRCh38]
Chr7:44189357..44189360 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_000162.5(GCK):c.775G>A (p.Ala259Thr) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV000501758]|Monogenic diabetes [RCV002282182]|not provided [RCV001562849] Chr7:44147738 [GRCh38]
Chr7:44187337 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000162.5(GCK):c.667G>A (p.Gly223Ser) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002367690]|Maturity-onset diabetes of the young type 2 [RCV000502130]|Monogenic diabetes [RCV003403165]|Permanent neonatal diabetes mellitus [RCV000763585]|not provided [RCV000517681] Chr7:44149772 [GRCh38]
Chr7:44189371 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.295del (p.Trp99fs) deletion Maturity onset diabetes mellitus in young [RCV002438219]|Maturity-onset diabetes of the young type 2 [RCV000502155] Chr7:44152339 [GRCh38]
Chr7:44191938 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_000162.5(GCK):c.98T>A (p.Val33Glu) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002383967]|Maturity-onset diabetes of the young type 2 [RCV000502611] Chr7:44153411 [GRCh38]
Chr7:44193010 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain significance
NM_000162.5(GCK):c.1173C>A (p.Asn391Lys) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463691]|Maturity-onset diabetes of the young type 2 [RCV000502737] Chr7:44145577 [GRCh38]
Chr7:44185176 [GRCh37]
Chr7:7p13
likely pathogenic|likely risk allele
NM_000162.5(GCK):c.824G>T (p.Arg275Leu) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV000504015]|Monogenic diabetes [RCV003330317] Chr7:44147689 [GRCh38]
Chr7:44187288 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.364C>A (p.Leu122Ile) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464017]|Maturity-onset diabetes of the young type 2 [RCV000504203]|not provided [RCV002473026] Chr7:44151075 [GRCh38]
Chr7:44190674 [GRCh37]
Chr7:7p13
likely pathogenic|likely risk allele|conflicting interpretations of pathogenicity|uncertain significance
NM_000162.5(GCK):c.566T>C (p.Ile189Thr) single nucleotide variant GCK-related condition [RCV003403149]|Maturity onset diabetes mellitus in young [RCV002350106]|Maturity-onset diabetes of the young type 2 [RCV002285343]|Monogenic diabetes [RCV003228938]|not provided [RCV000498428] Chr7:44149982 [GRCh38]
Chr7:44189581 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic|likely risk allele|uncertain significance
NM_000162.5(GCK):c.1358CGG[3] (p.Ala454dup) microsatellite Hyperinsulinism due to glucokinase deficiency [RCV000502957]|Maturity onset diabetes mellitus in young [RCV002287417] Chr7:44145170..44145171 [GRCh38]
Chr7:44184769..44184770 [GRCh37]
Chr7:7p13
pathogenic|uncertain significance
NM_000162.5(GCK):c.-452G>A single nucleotide variant Hyperinsulinism due to glucokinase deficiency [RCV001159587]|Maturity onset diabetes mellitus in young [RCV002463687]|Maturity-onset diabetes of the young type 2 [RCV001159586]|Permanent neonatal diabetes mellitus [RCV001160962]|Transient Neonatal Diabetes, Recessive [RCV001159585]|not specified [RCV000500897] Chr7:44189405 [GRCh38]
Chr7:44229004 [GRCh37]
Chr7:7p13
benign|likely benign|uncertain significance
NM_000162.5(GCK):c.134T>C (p.Leu45Pro) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002465692]|not provided [RCV000493595] Chr7:44153375 [GRCh38]
Chr7:44192974 [GRCh37]
Chr7:7p13
likely pathogenic|likely risk allele|conflicting interpretations of pathogenicity|uncertain significance
NM_000162.5(GCK):c.1130_1138del (p.Arg377_Ala379del) deletion Maturity onset diabetes mellitus in young [RCV002463683]|not provided [RCV000493930]|not specified [RCV000503344] Chr7:44145612..44145620 [GRCh38]
Chr7:44185211..44185219 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain significance
NM_000162.5(GCK):c.25G>T (p.Glu9Ter) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463682]|not provided [RCV000494362] Chr7:44188929 [GRCh38]
Chr7:44228528 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_000162.5(GCK):c.1340G>A (p.Arg447Gln) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV001290675]|Type 2 diabetes mellitus [RCV002489206]|not provided [RCV000494422] Chr7:44145194 [GRCh38]
Chr7:44184793 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_000162.5(GCK):c.208+1G>A single nucleotide variant not provided [RCV000578672] Chr7:44153300 [GRCh38]
Chr7:44192899 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.477C>G (p.Ile159Met) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464022]|not provided [RCV001821451]|not specified [RCV000518112] Chr7:44150962 [GRCh38]
Chr7:44190561 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain risk allele|uncertain significance
NM_033507.2(GCK):c.1030G>T (p.Gly344Cys) single nucleotide variant Maturity-onset diabetes of the young, type 2 [RCV000495970] Chr7:44145723 [GRCh38]
Chr7:44185322 [GRCh37]
Chr7:7p13
pathogenic|uncertain significance
NM_000162.5(GCK):c.1391del (p.Gly464fs) deletion Monogenic diabetes [RCV003313352] Chr7:44145143 [GRCh38]
Chr7:44184742 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.1318G>T (p.Glu440Ter) single nucleotide variant Monogenic diabetes [RCV003313362] Chr7:44145216 [GRCh38]
Chr7:44184815 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.1368del (p.Cys457fs) deletion Monogenic diabetes [RCV003313373] Chr7:44145166 [GRCh38]
Chr7:44184765 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.534G>A (p.Gly178=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV003301116] Chr7:44150014 [GRCh38]
Chr7:44189613 [GRCh37]
Chr7:7p13
likely benign
NM_000162.5(GCK):c.1348del (p.Ala450fs) deletion Monogenic diabetes [RCV003326087] Chr7:44145186 [GRCh38]
Chr7:44184785 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.1346_1347del (p.Ala449fs) microsatellite Monogenic diabetes [RCV003326084] Chr7:44145187..44145188 [GRCh38]
Chr7:44184786..44184787 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.1358_*127delinsT (p.Ser453fs) indel Monogenic diabetes [RCV003313374] Chr7:44145009..44145176 [GRCh38]
Chr7:44184608..44184775 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.427_428delinsCT (p.Lys143Leu) indel Maturity onset diabetes mellitus in young [RCV002464025]|not provided [RCV000523399] Chr7:44151011..44151012 [GRCh38]
Chr7:44190610..44190611 [GRCh37]
Chr7:7p13
likely risk allele|uncertain significance
NM_000162.5(GCK):c.527C>A (p.Ala176Glu) single nucleotide variant GCK-related condition [RCV003403237]|not provided [RCV000524090] Chr7:44150021 [GRCh38]
Chr7:44189620 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.1343del (p.Gly448fs) deletion Monogenic diabetes [RCV003313358] Chr7:44145191 [GRCh38]
Chr7:44184790 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.364-18A>G single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464027]|Type 2 diabetes mellitus [RCV002506472]|not provided [RCV000711771]|not specified [RCV000616972] Chr7:44151093 [GRCh38]
Chr7:44190692 [GRCh37]
Chr7:7p13
benign|likely benign
NM_000162.5(GCK):c.1256del (p.Phe419fs) deletion Maturity-onset diabetes of the young type 2 [RCV003313369] Chr7:44145278 [GRCh38]
Chr7:44184877 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.371A>T (p.Asp124Val) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464028]|Maturity-onset diabetes of the young type 2 [RCV000625646]|not provided [RCV001860464] Chr7:44151068 [GRCh38]
Chr7:44190667 [GRCh37]
Chr7:7p13
likely pathogenic|likely risk allele|uncertain significance
NM_000162.5(GCK):c.255G>T (p.Arg85Ser) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002465739]|Maturity-onset diabetes of the young type 2 [RCV000625634] Chr7:44152379 [GRCh38]
Chr7:44191978 [GRCh37]
Chr7:7p13
uncertain risk allele|uncertain significance
NM_000162.5(GCK):c.1317C>T (p.Ile439=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463721]|not specified [RCV000604671] Chr7:44145217 [GRCh38]
Chr7:44184816 [GRCh37]
Chr7:7p13
likely benign
NM_000162.5(GCK):c.1324G>A (p.Glu442Lys) single nucleotide variant Inborn genetic diseases [RCV000623742]|Permanent neonatal diabetes mellitus [RCV001824153]|not provided [RCV001041035] Chr7:44145210 [GRCh38]
Chr7:44184809 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain significance
NM_000162.5(GCK):c.540T>G (p.Asn180Lys) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002343405]|not provided [RCV000657902] Chr7:44150008 [GRCh38]
Chr7:44189607 [GRCh37]
Chr7:7p13
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000162.5(GCK):c.675C>G (p.Ile225Met) single nucleotide variant Maturity onset diabetes mellitus in young [RCV003343982]|not provided [RCV000657901] Chr7:44149764 [GRCh38]
Chr7:44189363 [GRCh37]
Chr7:7p13
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000162.5(GCK):c.124G>C (p.Asp42His) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464294]|not provided [RCV000710053] Chr7:44153385 [GRCh38]
Chr7:44192984 [GRCh37]
Chr7:7p13
uncertain risk allele|uncertain significance
NM_000162.5(GCK):c.1129C>T (p.Arg377Cys) single nucleotide variant Monogenic diabetes [RCV003325971]|not provided [RCV000711757] Chr7:44145621 [GRCh38]
Chr7:44185220 [GRCh37]
Chr7:7p13
pathogenic|uncertain significance
NM_000162.5(GCK):c.127C>A (p.Arg43Ser) single nucleotide variant not provided [RCV000711760] Chr7:44153382 [GRCh38]
Chr7:44192981 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.127C>T (p.Arg43Cys) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV002285407]|Monogenic diabetes [RCV003325972]|not provided [RCV000711761] Chr7:44153382 [GRCh38]
Chr7:44192981 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.1280T>G (p.Val427Gly) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463456]|not provided [RCV000711762] Chr7:44145254 [GRCh38]
Chr7:44184853 [GRCh37]
Chr7:7p13
likely risk allele|uncertain significance
NM_000162.5(GCK):c.1310C>T (p.Thr437Ile) single nucleotide variant Permanent neonatal diabetes mellitus [RCV000764717]|not provided [RCV000711765] Chr7:44145224 [GRCh38]
Chr7:44184823 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain significance
NM_000162.5(GCK):c.1327G>T (p.Glu443Ter) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463729]|Monogenic diabetes [RCV001844229]|not provided [RCV000711766] Chr7:44145207 [GRCh38]
Chr7:44184806 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_000162.5(GCK):c.1364T>A (p.Val455Glu) single nucleotide variant Maturity-onset diabetes of the young type 1 [RCV003446380]|Maturity-onset diabetes of the young type 2 [RCV002469275]|not provided [RCV000711767] Chr7:44145170 [GRCh38]
Chr7:44184769 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000162.5(GCK):c.185T>C (p.Val62Ala) single nucleotide variant Monogenic diabetes [RCV003480800]|not provided [RCV000711769] Chr7:44153324 [GRCh38]
Chr7:44192923 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_000162.5(GCK):c.322T>C (p.Tyr108His) single nucleotide variant Monogenic diabetes [RCV003480801]|not provided [RCV000711770] Chr7:44152312 [GRCh38]
Chr7:44191911 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic|uncertain significance
NM_000162.5(GCK):c.364C>G (p.Leu122Val) single nucleotide variant not provided [RCV000711772] Chr7:44151075 [GRCh38]
Chr7:44190674 [GRCh37]
Chr7:7p13
conflicting interpretations of pathogenicity|uncertain significance
NM_000162.5(GCK):c.680-2A>G single nucleotide variant Maturity onset diabetes mellitus in young [RCV002360845]|Monogenic diabetes [RCV002298750]|not provided [RCV000711782] Chr7:44147835 [GRCh38]
Chr7:44187434 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_000162.5(GCK):c.701A>G (p.Tyr234Cys) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463731]|not provided [RCV000711784] Chr7:44147812 [GRCh38]
Chr7:44187411 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain significance
NM_000162.5(GCK):c.819T>A (p.Tyr273Ter) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463732]|not provided [RCV000711785] Chr7:44147694 [GRCh38]
Chr7:44187293 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_000162.5(GCK):c.823C>T (p.Arg275Cys) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV002227212]|Monogenic diabetes [RCV003330319]|not provided [RCV000711786] Chr7:44147690 [GRCh38]
Chr7:44187289 [GRCh37]
Chr7:7p13
pathogenic|uncertain significance
NM_000162.5(GCK):c.952G>A (p.Gly318Arg) single nucleotide variant Monogenic diabetes [RCV001805831]|not provided [RCV000711789] Chr7:44146530 [GRCh38]
Chr7:44186129 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_000162.5(GCK):c.128G>C (p.Arg43Pro) single nucleotide variant not provided [RCV000711764] Chr7:44153381 [GRCh38]
Chr7:44192980 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.1054del (p.Ile351_Leu352insTer) deletion Maturity onset diabetes mellitus in young [RCV002463728]|not provided [RCV000711756] Chr7:44145696 [GRCh38]
Chr7:44185295 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.291del (p.Gln98fs) deletion Maturity onset diabetes mellitus in young [RCV002465757]|not provided [RCV000721110] Chr7:44152343 [GRCh38]
Chr7:44191942 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_000162.5(GCK):c.466C>T (p.His156Tyr) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464031]|Monogenic diabetes [RCV003480802]|not provided [RCV000711775] Chr7:44150973 [GRCh38]
Chr7:44190572 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain significance
NM_000162.5(GCK):c.1174C>T (p.Arg392Cys) single nucleotide variant GCK-related condition [RCV003420270]|Maturity-onset diabetes of the young type 2 [RCV002285406]|Monogenic diabetes [RCV003318504]|not provided [RCV000711758] Chr7:44145576 [GRCh38]
Chr7:44185175 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000162.5(GCK):c.377T>C (p.Ile126Thr) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464030]|not provided [RCV000711773] Chr7:44151062 [GRCh38]
Chr7:44190661 [GRCh37]
Chr7:7p13
likely risk allele|uncertain significance
NM_000162.5(GCK):c.579+8G>A single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463730]|not provided [RCV000711777] Chr7:44149961 [GRCh38]
Chr7:44189560 [GRCh37]
Chr7:7p13
benign|uncertain significance
NM_000162.5(GCK):c.608T>C (p.Val203Ala) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002352232]|Monogenic diabetes [RCV003155293]|Type 2 diabetes mellitus [RCV002499286]|not provided [RCV000711780] Chr7:44149831 [GRCh38]
Chr7:44189430 [GRCh37]
Chr7:7p13
pathogenic|likely risk allele
NM_000162.5(GCK):c.863+1G>A single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV001420913]|not provided [RCV000711787] Chr7:44147649 [GRCh38]
Chr7:44187248 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_000162.5(GCK):c.98T>C (p.Val33Ala) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV002285408]|not provided [RCV000711790] Chr7:44153411 [GRCh38]
Chr7:44193010 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000162.5(GCK):c.138G>A (p.Arg46=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002388589]|not specified [RCV001553677] Chr7:44153371 [GRCh38]
Chr7:44192970 [GRCh37]
Chr7:7p13
benign|likely benign
NM_000162.5(GCK):c.718A>G (p.Asn240Asp) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463738]|Maturity-onset diabetes of the young type 2 [RCV000754808] Chr7:44147795 [GRCh38]
Chr7:44187394 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain risk allele
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv inversion Childhood apraxia of speech [RCV000234948] Chr7:21001537..114528369 [GRCh37]
Chr7:7p15.3-q31.1
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NC_000007.14:g.44189721G>A single nucleotide variant not provided [RCV001692894] Chr7:44189721 [GRCh38]
Chr7:44229320 [GRCh37]
Chr7:7p13
benign
NM_000162.5(GCK):c.909G>T (p.Arg303=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463751]|not provided [RCV000917731] Chr7:44146573 [GRCh38]
Chr7:44186172 [GRCh37]
Chr7:7p13
likely benign
NM_000162.5(GCK):c.45+1G>T single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV000760157]|not provided [RCV000992051] Chr7:44188908 [GRCh38]
Chr7:44228507 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.1309_1310del (p.Thr437fs) deletion Maturity-onset diabetes of the young type 2 [RCV003313363] Chr7:44145224..44145225 [GRCh38]
Chr7:44184823..44184824 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.1261G>T (p.Glu421Ter) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV003313366] Chr7:44145273 [GRCh38]
Chr7:44184872 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.679+169C>T single nucleotide variant not provided [RCV001569209] Chr7:44149591 [GRCh38]
Chr7:44189190 [GRCh37]
Chr7:7p13
likely benign
NM_000162.5(GCK):c.1307_1319del (p.Ile436fs) deletion Maturity-onset diabetes of the young type 2 [RCV003313354] Chr7:44145215..44145227 [GRCh38]
Chr7:44184814..44184826 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.1145G>A (p.Cys382Tyr) single nucleotide variant Monogenic diabetes [RCV003318508]|not provided [RCV001663646] Chr7:44145605 [GRCh38]
Chr7:44185204 [GRCh37]
Chr7:7p13
pathogenic|uncertain significance
NM_000162.5(GCK):c.1019+304G>C single nucleotide variant not provided [RCV001667792] Chr7:44146159 [GRCh38]
Chr7:44185758 [GRCh37]
Chr7:7p13
benign
NM_000162.5(GCK):c.46-5702G>A single nucleotide variant not provided [RCV001581877] Chr7:44159165 [GRCh38]
Chr7:44198764 [GRCh37]
Chr7:7p13
likely benign
NM_000162.5(GCK):c.561C>T (p.Asp187=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463750]|not provided [RCV000900557] Chr7:44149987 [GRCh38]
Chr7:44189586 [GRCh37]
Chr7:7p13
benign|likely benign
NM_000162.5(GCK):c.609G>A (p.Val203=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463748]|not provided [RCV000884437] Chr7:44149830 [GRCh38]
Chr7:44189429 [GRCh37]
Chr7:7p13
benign|likely benign
NM_000162.5(GCK):c.46-4621C>T single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463753]|not provided [RCV000943404] Chr7:44158084 [GRCh38]
Chr7:44197683 [GRCh37]
Chr7:7p13
benign|likely benign
NM_000162.5(GCK):c.1068G>T (p.Gly356=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463752]|not provided [RCV000924600] Chr7:44145682 [GRCh38]
Chr7:44185281 [GRCh37]
Chr7:7p13
likely benign
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_000162.5(GCK):c.148C>T (p.His50Tyr) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002332563]|Maturity-onset diabetes of the young type 2 [RCV000778070]|not provided [RCV001816832] Chr7:44153361 [GRCh38]
Chr7:44192960 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_000162.5(GCK):c.348C>T (p.Thr116=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464033]|not provided [RCV000916659] Chr7:44152286 [GRCh38]
Chr7:44191885 [GRCh37]
Chr7:7p13
benign|likely benign
NM_000162.5(GCK):c.363+9C>T single nucleotide variant Hyperinsulinism due to glucokinase deficiency [RCV001159381]|Maturity onset diabetes mellitus in young [RCV002464346]|Maturity-onset diabetes of the young type 2 [RCV001164297]|Permanent neonatal diabetes mellitus [RCV001164298]|Transient Neonatal Diabetes, Recessive [RCV001164296]|not provided [RCV000925313]|not specified [RCV001818885] Chr7:44152262 [GRCh38]
Chr7:44191861 [GRCh37]
Chr7:7p13
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000162.5(GCK):c.849C>T (p.Asn283=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463749]|not provided [RCV000895058] Chr7:44147664 [GRCh38]
Chr7:44187263 [GRCh37]
Chr7:7p13
likely benign
NM_000162.5(GCK):c.1378del (p.Ala460fs) deletion Maturity-onset diabetes of the young type 2 [RCV003313365] Chr7:44145156 [GRCh38]
Chr7:44184755 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.679+38T>C single nucleotide variant not provided [RCV000832813] Chr7:44149722 [GRCh38]
Chr7:44189321 [GRCh37]
Chr7:7p13
benign
NM_000162.5(GCK):c.46-4952G>A single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463744]|not provided [RCV000833145] Chr7:44158415 [GRCh38]
Chr7:44198014 [GRCh37]
Chr7:7p13
benign|likely benign
NM_000162.5(GCK):c.726G>A (p.Glu242=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463755]|not provided [RCV000976692] Chr7:44147787 [GRCh38]
Chr7:44187386 [GRCh37]
Chr7:7p13
likely benign
NM_000162.5(GCK):c.483+87A>C single nucleotide variant not provided [RCV000836326] Chr7:44150869 [GRCh38]
Chr7:44190468 [GRCh37]
Chr7:7p13
benign
NM_000162.5(GCK):c.1064T>C (p.Leu355Pro) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463758]|Monogenic diabetes [RCV003318506]|not provided [RCV000992034]|not specified [RCV001290631] Chr7:44145686 [GRCh38]
Chr7:44185285 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain significance
NM_000162.5(GCK):c.1247A>C (p.His416Pro) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463762]|not provided [RCV000992042] Chr7:44145503 [GRCh38]
Chr7:44185102 [GRCh37]
Chr7:7p13
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000162.5(GCK):c.1253+3G>T single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463763]|not provided [RCV000992043] Chr7:44145494 [GRCh38]
Chr7:44185093 [GRCh37]
Chr7:7p13
uncertain risk allele|uncertain significance
NM_000162.5(GCK):c.562G>A (p.Ala188Thr) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV001248939]|not provided [RCV000992055] Chr7:44149986 [GRCh38]
Chr7:44189585 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.629T>C (p.Met210Thr) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV003117664]|not provided [RCV000992058] Chr7:44149810 [GRCh38]
Chr7:44189409 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000162.5(GCK):c.70C>T (p.Gln24Ter) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002363516]|not provided [RCV000992060] Chr7:44153439 [GRCh38]
Chr7:44193038 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.734A>G (p.Glu245Gly) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463765]|not provided [RCV000992061] Chr7:44147779 [GRCh38]
Chr7:44187378 [GRCh37]
Chr7:7p13
likely risk allele|uncertain significance
NM_000162.5(GCK):c.809T>C (p.Leu270Pro) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463766]|not provided [RCV000992064] Chr7:44147704 [GRCh38]
Chr7:44187303 [GRCh37]
Chr7:7p13
uncertain risk allele|uncertain significance
NM_000162.5(GCK):c.46-5883dup duplication Maturity onset diabetes mellitus in young [RCV002463746]|not provided [RCV000843826] Chr7:44159345..44159346 [GRCh38]
Chr7:44198944..44198945 [GRCh37]
Chr7:7p13
benign|likely benign
NM_000162.5(GCK):c.1253+49G>A single nucleotide variant not provided [RCV000833675] Chr7:44145448 [GRCh38]
Chr7:44185047 [GRCh37]
Chr7:7p13
benign
NM_000162.5(GCK):c.46-4438C>T single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463743]|not provided [RCV000832331] Chr7:44157901 [GRCh38]
Chr7:44197500 [GRCh37]
Chr7:7p13
benign|likely benign
NM_000162.5(GCK):c.1156C>G (p.Leu386Val) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463761]|not provided [RCV000992039] Chr7:44145594 [GRCh38]
Chr7:44185193 [GRCh37]
Chr7:7p13
likely risk allele|uncertain significance
NM_000162.5(GCK):c.626C>T (p.Thr209Met) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002354899]|Monogenic diabetes [RCV002265919]|not provided [RCV000992057] Chr7:44149813 [GRCh38]
Chr7:44189412 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic|likely risk allele
NM_000162.5(GCK):c.737G>C (p.Gly246Ala) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002382224]|Monogenic diabetes [RCV003446565]|not provided [RCV000992062] Chr7:44147776 [GRCh38]
Chr7:44187375 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain risk allele|uncertain significance
NM_000162.5(GCK):c.854del (p.Gly285fs) deletion Maturity onset diabetes mellitus in young [RCV002463768]|not provided [RCV000992067] Chr7:44147659 [GRCh38]
Chr7:44187258 [GRCh37]
Chr7:7p13
pathogenic|uncertain risk allele
NM_000162.5(GCK):c.943C>T (p.Leu315Phe) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463769]|not provided [RCV000992071] Chr7:44146539 [GRCh38]
Chr7:44186138 [GRCh37]
Chr7:7p13
likely risk allele|uncertain significance
NM_000162.5(GCK):c.1019+275del deletion Maturity onset diabetes mellitus in young [RCV002463742]|not provided [RCV000828882] Chr7:44146188 [GRCh38]
Chr7:44185787 [GRCh37]
Chr7:7p13
benign
NM_000162.5(GCK):c.208+17G>A single nucleotide variant Maturity onset diabetes mellitus in young [RCV002465791]|Type 2 diabetes mellitus [RCV002501162]|not provided [RCV000828155] Chr7:44153284 [GRCh38]
Chr7:44192883 [GRCh37]
Chr7:7p13
benign|likely benign
NM_000162.5(GCK):c.1031_1034dup (p.Lys346fs) duplication Maturity onset diabetes mellitus in young [RCV002463756]|Maturity-onset diabetes of the young type 2 [RCV000987866] Chr7:44145715..44145716 [GRCh38]
Chr7:44185314..44185315 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_000162.5(GCK):c.1019+257G>C single nucleotide variant not provided [RCV000828875] Chr7:44146206 [GRCh38]
Chr7:44185805 [GRCh37]
Chr7:7p13
benign
NM_000162.5(GCK):c.649G>A (p.Asp217Asn) single nucleotide variant Hyperinsulinism due to glucokinase deficiency [RCV001164190]|Maturity-onset diabetes of the young type 2 [RCV001164187]|Monogenic diabetes [RCV003325990]|Permanent neonatal diabetes mellitus [RCV001164189]|Transient Neonatal Diabetes, Recessive [RCV001164188]|Type 2 diabetes mellitus [RCV002468180]|not provided [RCV001315293] Chr7:44149790 [GRCh38]
Chr7:44189389 [GRCh37]
Chr7:7p13
benign|uncertain significance
NM_000162.5(GCK):c.209-236G>T single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464335]|not provided [RCV000836325] Chr7:44152661 [GRCh38]
Chr7:44192260 [GRCh37]
Chr7:7p13
benign
NM_000162.5(GCK):c.1020-327C>A single nucleotide variant not provided [RCV000828885] Chr7:44146057 [GRCh38]
Chr7:44185656 [GRCh37]
Chr7:7p13
benign
NM_000162.5(GCK):c.46-4521C>A single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463747]|not provided [RCV000843827] Chr7:44157984 [GRCh38]
Chr7:44197583 [GRCh37]
Chr7:7p13
benign
NM_000162.5(GCK):c.864-105G>A single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463745]|not provided [RCV000837378] Chr7:44146723 [GRCh38]
Chr7:44186322 [GRCh37]
Chr7:7p13
benign|likely benign
NM_000162.5(GCK):c.46-5908dup duplication not provided [RCV000828863] Chr7:44159368..44159369 [GRCh38]
Chr7:44198967..44198968 [GRCh37]
Chr7:7p13
benign
NM_000162.5(GCK):c.46-6080G>A single nucleotide variant not provided [RCV000835590] Chr7:44159543 [GRCh38]
Chr7:44199142 [GRCh37]
Chr7:7p13
benign
NM_000162.5(GCK):c.1360del (p.Ala454fs) deletion Maturity onset diabetes mellitus in young [RCV002287453]|Monogenic diabetes [RCV003313161]|not provided [RCV000992048] Chr7:44145174 [GRCh38]
Chr7:44184773 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic|uncertain significance
NM_000162.5(GCK):c.387C>A (p.Cys129Ter) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464034]|not provided [RCV000992050] Chr7:44151052 [GRCh38]
Chr7:44190651 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.772G>T (p.Gly258Cys) single nucleotide variant not provided [RCV000992063] Chr7:44147741 [GRCh38]
Chr7:44187340 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.904G>C (p.Val302Leu) single nucleotide variant not provided [RCV000992069] Chr7:44146578 [GRCh38]
Chr7:44186177 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.-279C>T single nucleotide variant Hyperinsulinism due to glucokinase deficiency [RCV001164513]|Maturity onset diabetes mellitus in young [RCV002463784]|Maturity-onset diabetes of the young type 2 [RCV001164514]|Permanent neonatal diabetes mellitus [RCV001164512]|Transient Neonatal Diabetes, Recessive [RCV001164515] Chr7:44189232 [GRCh38]
Chr7:44228831 [GRCh37]
Chr7:7p13
benign|uncertain significance
NM_000162.5(GCK):c.622G>A (p.Ala208Thr) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV000991306]|Monogenic diabetes [RCV003318505] Chr7:44149817 [GRCh38]
Chr7:44189416 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_000162.5(GCK):c.1265G>C (p.Arg422Pro) single nucleotide variant not provided [RCV000992044] Chr7:44145269 [GRCh38]
Chr7:44184868 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.1340G>C (p.Arg447Pro) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV002290505]|not provided [RCV000992046] Chr7:44145194 [GRCh38]
Chr7:44184793 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain significance
NM_000162.5(GCK):c.554T>G (p.Leu185Arg) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002346196]|not provided [RCV000992054] Chr7:44149994 [GRCh38]
Chr7:44189593 [GRCh37]
Chr7:7p13
conflicting interpretations of pathogenicity|uncertain significance
NM_000162.5(GCK):c.571C>G (p.Arg191Gly) single nucleotide variant not provided [RCV000992056] Chr7:44149977 [GRCh38]
Chr7:44189576 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.848del (p.Asn283fs) deletion Maturity onset diabetes mellitus in young [RCV002463767]|not provided [RCV000992066] Chr7:44147665 [GRCh38]
Chr7:44187264 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain risk allele
NM_000162.5(GCK):c.680-14G>C single nucleotide variant Hyperinsulinism due to glucokinase deficiency [RCV001162160]|Maturity onset diabetes mellitus in young [RCV002464399]|Maturity-onset diabetes of the young type 2 [RCV001160546]|Permanent neonatal diabetes mellitus [RCV001160548]|Transient Neonatal Diabetes, Recessive [RCV001160547]|not provided [RCV002558521] Chr7:44147847 [GRCh38]
Chr7:44187446 [GRCh37]
Chr7:7p13
benign|likely benign|uncertain significance
NM_000162.5(GCK):c.1146C>A (p.Cys382Ter) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463759]|Monogenic diabetes [RCV003318507]|not provided [RCV000992037] Chr7:44145604 [GRCh38]
Chr7:44185203 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_000162.5(GCK):c.1151C>T (p.Ala384Val) single nucleotide variant GCK-related condition [RCV003396574]|Maturity onset diabetes mellitus in young [RCV002463760]|not provided [RCV000992038] Chr7:44145599 [GRCh38]
Chr7:44185198 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain significance
NM_000162.5(GCK):c.121A>G (p.Met41Val) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464351]|not provided [RCV000992040] Chr7:44153388 [GRCh38]
Chr7:44192987 [GRCh37]
Chr7:7p13
likely risk allele|uncertain significance
NM_000162.5(GCK):c.301G>A (p.Val101Met) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV001249063]|Type 2 diabetes mellitus [RCV002489469]|not provided [RCV000992049] Chr7:44152333 [GRCh38]
Chr7:44191932 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.-215A>G single nucleotide variant Hyperinsulinism due to glucokinase deficiency [RCV001160846]|Maturity onset diabetes mellitus in young [RCV002319666]|Maturity-onset diabetes of the young type 2 [RCV001160848]|Permanent neonatal diabetes mellitus [RCV001160847]|Transient Neonatal Diabetes, Recessive [RCV001162463]|not specified [RCV001819863] Chr7:44189168 [GRCh38]
Chr7:44228767 [GRCh37]
Chr7:7p13
benign|likely benign
NM_000162.5(GCK):c.-267G>T single nucleotide variant Hyperinsulinism due to glucokinase deficiency [RCV001162468]|Maturity onset diabetes mellitus in young [RCV002319668]|Maturity-onset diabetes of the young type 2 [RCV001162470]|Permanent neonatal diabetes mellitus [RCV001162469]|Transient Neonatal Diabetes, Recessive [RCV001164511]|not provided [RCV001560308] Chr7:44189220 [GRCh38]
Chr7:44228819 [GRCh37]
Chr7:7p13
benign|likely benign
NM_000162.5(GCK):c.203G>A (p.Gly68Asp) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV001248984]|Monogenic diabetes [RCV003481036] Chr7:44153306 [GRCh38]
Chr7:44192905 [GRCh37]
Chr7:7p13
likely benign|uncertain significance
NM_000162.5(GCK):c.773G>A (p.Gly258Asp) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463790]|Maturity-onset diabetes of the young type 2 [RCV001248985] Chr7:44147740 [GRCh38]
Chr7:44187339 [GRCh37]
Chr7:7p13
likely risk allele|uncertain significance
NM_000162.5(GCK):c.1019G>T (p.Ser340Ile) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV001248989]|not provided [RCV001751508] Chr7:44146463 [GRCh38]
Chr7:44186062 [GRCh37]
Chr7:7p13
conflicting interpretations of pathogenicity|uncertain significance
NM_000162.5(GCK):c.709G>A (p.Glu237Lys) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463791]|Maturity-onset diabetes of the young type 2 [RCV001249059] Chr7:44147804 [GRCh38]
Chr7:44187403 [GRCh37]
Chr7:7p13
uncertain risk allele|uncertain significance
NM_000162.5(GCK):c.107G>A (p.Arg36Gln) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464037]|Maturity-onset diabetes of the young type 2 [RCV001249065]|Type 2 diabetes mellitus [RCV002485984]|not provided [RCV001879749] Chr7:44153402 [GRCh38]
Chr7:44193001 [GRCh37]
Chr7:7p13
uncertain risk allele|uncertain significance
NM_000162.5(GCK):c.1085C>T (p.Thr362Ile) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463792]|Permanent neonatal diabetes mellitus [RCV001249301]|not provided [RCV001751510] Chr7:44145665 [GRCh38]
Chr7:44185264 [GRCh37]
Chr7:7p13
uncertain risk allele|uncertain significance|not provided
NM_000162.5(GCK):c.1339dup (p.Arg447fs) duplication Monogenic diabetes [RCV003313359] Chr7:44145194..44145195 [GRCh38]
Chr7:44184793..44184794 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.1302C>A (p.Cys434Ter) single nucleotide variant Monogenic diabetes [RCV003313364] Chr7:44145232 [GRCh38]
Chr7:44184831 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.1256T>C (p.Phe419Ser) single nucleotide variant Monogenic diabetes [RCV003313368] Chr7:44145278 [GRCh38]
Chr7:44184877 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.1254-1G>T single nucleotide variant Monogenic diabetes [RCV003313371] Chr7:44145281 [GRCh38]
Chr7:44184880 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.1261del (p.Glu421fs) deletion Monogenic diabetes [RCV003313367] Chr7:44145273 [GRCh38]
Chr7:44184872 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.755G>T (p.Cys252Phe) single nucleotide variant not provided [RCV000998793] Chr7:44147758 [GRCh38]
Chr7:44187357 [GRCh37]
Chr7:7p13
likely pathogenic|conflicting interpretations of pathogenicity
NM_000162.5(GCK):c.836A>G (p.Glu279Gly) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463757]|Maturity-onset diabetes of the young type 2 [RCV000987867]|Type 2 diabetes mellitus [RCV002488077]|not provided [RCV002549691] Chr7:44147677 [GRCh38]
Chr7:44187276 [GRCh37]
Chr7:7p13
likely risk allele|uncertain significance
NM_000162.5(GCK):c.772G>A (p.Gly258Ser) single nucleotide variant Diabetes mellitus [RCV001175327]|not provided [RCV001556494] Chr7:44147741 [GRCh38]
Chr7:44187340 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000162.5(GCK):c.716A>G (p.Gln239Arg) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV001249058] Chr7:44147797 [GRCh38]
Chr7:44187396 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.207A>G (p.Ser69=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002465855]|Maturity-onset diabetes of the young type 2 [RCV001249064]|not provided [RCV001289435]|not specified [RCV001819955] Chr7:44153302 [GRCh38]
Chr7:44192901 [GRCh37]
Chr7:7p13
conflicting interpretations of pathogenicity|uncertain risk allele|uncertain significance
NM_000162.5(GCK):c.-449G>A single nucleotide variant Hyperinsulinism due to glucokinase deficiency [RCV001159583]|Maturity-onset diabetes of the young type 2 [RCV001159581]|Permanent neonatal diabetes mellitus [RCV001159584]|Transient Neonatal Diabetes, Recessive [RCV001159582] Chr7:44189402 [GRCh38]
Chr7:44229001 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.792C>A (p.Gly264=) single nucleotide variant Hyperinsulinism due to glucokinase deficiency [RCV001160543]|Maturity-onset diabetes of the young type 2 [RCV001160544]|Permanent neonatal diabetes mellitus [RCV001160542]|Transient Neonatal Diabetes, Recessive [RCV001160545] Chr7:44147721 [GRCh38]
Chr7:44187320 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.-84C>G single nucleotide variant Hyperinsulinism due to glucokinase deficiency [RCV001164415]|Maturity onset diabetes mellitus in young [RCV002319664]|Maturity-onset diabetes of the young type 2 [RCV001164416]|Permanent neonatal diabetes mellitus [RCV001164417]|Transient Neonatal Diabetes, Recessive [RCV001159476]|not provided [RCV001683742] Chr7:44189037 [GRCh38]
Chr7:44228636 [GRCh37]
Chr7:7p13
benign
NC_000007.13:g.(?_44153173)_(44365020_?)dup duplication not provided [RCV003105675] Chr7:44153173..44365020 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.1312_1314del (p.Phe438del) deletion Monogenic diabetes [RCV003313353] Chr7:44145220..44145222 [GRCh38]
Chr7:44184819..44184821 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.1379_*2del (p.Ala460fs) deletion Monogenic diabetes [RCV003313357] Chr7:44145134..44145155 [GRCh38]
Chr7:44184733..44184754 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.1335_1345del (p.Arg447fs) deletion Monogenic diabetes [RCV003313360] Chr7:44145189..44145199 [GRCh38]
Chr7:44184788..44184798 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.1319_1323dup (p.Glu442fs) duplication Monogenic diabetes [RCV003313361] Chr7:44145210..44145211 [GRCh38]
Chr7:44184809..44184810 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.1373_1384del (p.Lys458_Cys461del) deletion Monogenic diabetes [RCV003313372] Chr7:44145150..44145161 [GRCh38]
Chr7:44184749..44184760 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.1265_1273delinsTGCGAGCCACCTTCAT (p.Arg422fs) indel Monogenic diabetes [RCV003313355] Chr7:44145261..44145269 [GRCh38]
Chr7:44184860..44184868 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.1346_1362del (p.Ala449fs) deletion Monogenic diabetes [RCV003313356] Chr7:44145172..44145188 [GRCh38]
Chr7:44184771..44184787 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.1255T>G (p.Phe419Val) single nucleotide variant Monogenic diabetes [RCV003313370] Chr7:44145279 [GRCh38]
Chr7:44184878 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.1313T>A (p.Phe438Tyr) single nucleotide variant Monogenic diabetes [RCV003313375] Chr7:44145221 [GRCh38]
Chr7:44184820 [GRCh37]
Chr7:7p13
pathogenic|uncertain significance
NC_000007.13:g.(?_43810758)_(44747598_?)del deletion not provided [RCV003105673] Chr7:43810758..44747598 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.990C>T (p.Phe330=) single nucleotide variant not provided [RCV001663694] Chr7:44146492 [GRCh38]
Chr7:44186091 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.46-62C>A single nucleotide variant not provided [RCV001551487] Chr7:44153525 [GRCh38]
Chr7:44193124 [GRCh37]
Chr7:7p13
likely benign
NM_000162.5(GCK):c.617C>T (p.Thr206Met) single nucleotide variant Monogenic diabetes [RCV002271659]|not provided [RCV001553149] Chr7:44149822 [GRCh38]
Chr7:44189421 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_000162.5(GCK):c.46-4438C>A single nucleotide variant not provided [RCV001583394] Chr7:44157901 [GRCh38]
Chr7:44197500 [GRCh37]
Chr7:7p13
likely benign
NM_000162.5(GCK):c.579+29G>T single nucleotide variant not provided [RCV001561573] Chr7:44149940 [GRCh38]
Chr7:44189539 [GRCh37]
Chr7:7p13
likely benign
NM_000162.5(GCK):c.1019+174G>T single nucleotide variant not provided [RCV001717578] Chr7:44146289 [GRCh38]
Chr7:44185888 [GRCh37]
Chr7:7p13
benign
NM_000162.5(GCK):c.483+58A>T single nucleotide variant not provided [RCV001657381] Chr7:44150898 [GRCh38]
Chr7:44190497 [GRCh37]
Chr7:7p13
benign
NM_000162.5(GCK):c.680G>A (p.Gly227Asp) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002368582]|not provided [RCV001563276] Chr7:44147833 [GRCh38]
Chr7:44187432 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain significance
NM_000162.5(GCK):c.386G>A (p.Cys129Tyr) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV001580191]|not provided [RCV003120636] Chr7:44151053 [GRCh38]
Chr7:44190652 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.46-4459C>T single nucleotide variant not provided [RCV001568139] Chr7:44157922 [GRCh38]
Chr7:44197521 [GRCh37]
Chr7:7p13
likely benign
NM_000162.5(GCK):c.679+85A>G single nucleotide variant not provided [RCV001654762] Chr7:44149675 [GRCh38]
Chr7:44189274 [GRCh37]
Chr7:7p13
benign
NM_000162.5(GCK):c.679+1G>A single nucleotide variant Maturity onset diabetes mellitus in young [RCV002368586]|not provided [RCV001565927] Chr7:44149759 [GRCh38]
Chr7:44189358 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.1123T>C (p.Ser375Pro) single nucleotide variant not provided [RCV000992035] Chr7:44145627 [GRCh38]
Chr7:44185226 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.1136C>T (p.Ala379Val) single nucleotide variant not provided [RCV000992036] Chr7:44145614 [GRCh38]
Chr7:44185213 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_000162.5(GCK):c.1350_1361del (p.Leu451_Ala454del) deletion Maturity onset diabetes mellitus in young [RCV002287452]|not provided [RCV000992047] Chr7:44145173..44145184 [GRCh38]
Chr7:44184772..44184783 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.483+2_483+16del deletion Maturity onset diabetes mellitus in young [RCV003106086]|Maturity-onset diabetes of the young type 2 [RCV002286425]|not provided [RCV000992052] Chr7:44150940..44150954 [GRCh38]
Chr7:44190539..44190553 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_000162.5(GCK):c.638_640del (p.Cys213del) deletion Maturity onset diabetes mellitus in young [RCV002463764]|not provided [RCV000992059] Chr7:44149799..44149801 [GRCh38]
Chr7:44189398..44189400 [GRCh37]
Chr7:7p13
uncertain risk allele|uncertain significance
NM_000162.5(GCK):c.864-1G>A single nucleotide variant not provided [RCV000992068] Chr7:44146619 [GRCh38]
Chr7:44186218 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.834C>T (p.Asp278=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463754]|Type 2 diabetes mellitus [RCV002489298]|not provided [RCV000948767] Chr7:44147679 [GRCh38]
Chr7:44187278 [GRCh37]
Chr7:7p13
benign|likely benign
NM_000162.5(GCK):c.1133C>G (p.Ala378Gly) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV001248986]|Monogenic diabetes [RCV003325991]|not provided [RCV001879746] Chr7:44145617 [GRCh38]
Chr7:44185216 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain significance
NM_000162.5(GCK):c.1262A>G (p.Glu421Gly) single nucleotide variant Hyperinsulinism due to glucokinase deficiency [RCV001164091]|Maturity-onset diabetes of the young type 2 [RCV001162074]|Permanent neonatal diabetes mellitus [RCV001162073]|Transient Neonatal Diabetes, Recessive [RCV001162075] Chr7:44145272 [GRCh38]
Chr7:44184871 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.1024A>C (p.Thr342Pro) single nucleotide variant Hyperinsulinism due to glucokinase deficiency [RCV001159192]|Maturity-onset diabetes of the young type 2 [RCV001159194]|Permanent neonatal diabetes mellitus [RCV001159193]|Transient Neonatal Diabetes, Recessive [RCV001160541]|Type 2 diabetes mellitus [RCV002483905] Chr7:44145726 [GRCh38]
Chr7:44185325 [GRCh37]
Chr7:7p13
benign|uncertain significance
NM_000162.5(GCK):c.10G>A (p.Asp4Asn) single nucleotide variant Hyperinsulinism due to glucokinase deficiency [RCV001164412]|Maturity-onset diabetes of the young type 2 [RCV001164413]|Monogenic diabetes [RCV003480976]|Permanent neonatal diabetes mellitus [RCV001164411]|Transient Neonatal Diabetes, Recessive [RCV001164414]|Type 2 diabetes mellitus [RCV002483920] Chr7:44188944 [GRCh38]
Chr7:44228543 [GRCh37]
Chr7:7p13
likely benign|uncertain significance
NM_000162.5(GCK):c.-102G>C single nucleotide variant Hyperinsulinism due to glucokinase deficiency [RCV001159477]|Maturity-onset diabetes of the young type 2 [RCV001159479]|Permanent neonatal diabetes mellitus [RCV001159478]|Transient Neonatal Diabetes, Recessive [RCV001159480] Chr7:44189055 [GRCh38]
Chr7:44228654 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.307A>T (p.Thr103Ser) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464385]|not provided [RCV001093388] Chr7:44152327 [GRCh38]
Chr7:44191926 [GRCh37]
Chr7:7p13
pathogenic|uncertain risk allele
NM_000162.5(GCK):c.1130G>T (p.Arg377Leu) single nucleotide variant Monogenic diabetes [RCV003330325]|not provided [RCV001093387]|not specified [RCV003331042] Chr7:44145620 [GRCh38]
Chr7:44185219 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic|uncertain significance
NM_000162.5(GCK):c.1233C>G (p.Ser411=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002372534]|not provided [RCV000912194] Chr7:44145517 [GRCh38]
Chr7:44185116 [GRCh37]
Chr7:7p13
benign|likely benign
NM_000162.5(GCK):c.627_628delinsAG (p.Met210Val) indel Monogenic diabetes [RCV003234753] Chr7:44149811..44149812 [GRCh38]
Chr7:44189410..44189411 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.-97G>A single nucleotide variant Monogenic diabetes [RCV003326082] Chr7:44189050 [GRCh38]
Chr7:44228649 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.1A>T (p.Met1Leu) single nucleotide variant Hyperinsulinism due to glucokinase deficiency [RCV003230246] Chr7:44188953 [GRCh38]
Chr7:44228552 [GRCh37]
Chr7:7p13
likely benign
NM_000162.5(GCK):c.363+317C>T single nucleotide variant not provided [RCV001557510] Chr7:44151954 [GRCh38]
Chr7:44191553 [GRCh37]
Chr7:7p13
likely benign
NM_000162.5(GCK):c.183C>A (p.Tyr61Ter) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002409317]|Maturity-onset diabetes of the young type 2 [RCV000987868]|not provided [RCV002549692] Chr7:44153326 [GRCh38]
Chr7:44192925 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.278A>C (p.Glu93Ala) single nucleotide variant Type 2 diabetes mellitus [RCV002468458] Chr7:44152356 [GRCh38]
Chr7:44191955 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.564_567dup (p.Lys190fs) duplication not provided [RCV001558608] Chr7:44149980..44149981 [GRCh38]
Chr7:44189579..44189580 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.130G>T (p.Gly44Cys) single nucleotide variant GCK-related condition [RCV003420621]|not specified [RCV003230884] Chr7:44153379 [GRCh38]
Chr7:44192978 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.1019+107T>C single nucleotide variant not provided [RCV001598317] Chr7:44146356 [GRCh38]
Chr7:44185955 [GRCh37]
Chr7:7p13
benign
NM_000162.5(GCK):c.484-29G>C single nucleotide variant not provided [RCV001656101] Chr7:44150093 [GRCh38]
Chr7:44189692 [GRCh37]
Chr7:7p13
benign
NM_000162.5(GCK):c.1112G>A (p.Cys371Tyr) single nucleotide variant Monogenic diabetes [RCV003326073] Chr7:44145638 [GRCh38]
Chr7:44185237 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.59T>C (p.Leu20Pro) single nucleotide variant not provided [RCV003231847] Chr7:44153450 [GRCh38]
Chr7:44193049 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain significance
NM_000162.5(GCK):c.1020-95G>A single nucleotide variant not provided [RCV001569072] Chr7:44145825 [GRCh38]
Chr7:44185424 [GRCh37]
Chr7:7p13
likely benign
NM_000162.5(GCK):c.46-4988G>C single nucleotide variant not provided [RCV001561062] Chr7:44158451 [GRCh38]
Chr7:44198050 [GRCh37]
Chr7:7p13
likely benign
NM_000162.5(GCK):c.509_517dup (p.Lys172_Ala173insGlyPheLys) duplication Monogenic diabetes [RCV003230885] Chr7:44150030..44150031 [GRCh38]
Chr7:44189629..44189630 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.1020-54G>A single nucleotide variant not provided [RCV001550593] Chr7:44145784 [GRCh38]
Chr7:44185383 [GRCh37]
Chr7:7p13
likely benign
NM_000162.5(GCK):c.1099G>T (p.Val367Leu) single nucleotide variant Monogenic diabetes [RCV003326018]|not provided [RCV002465963] Chr7:44145651 [GRCh38]
Chr7:44185250 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.57C>A (p.Ile19=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464671] Chr7:44153452 [GRCh38]
Chr7:44193051 [GRCh37]
Chr7:7p13
uncertain significance
NC_000007.14:g.44189633T>C single nucleotide variant not provided [RCV001687576] Chr7:44189633 [GRCh38]
Chr7:44229232 [GRCh37]
Chr7:7p13
benign
NM_000162.5(GCK):c.1217_1219dup (p.Val406dup) duplication not provided [RCV001663655] Chr7:44145530..44145531 [GRCh38]
Chr7:44185129..44185130 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.209-179T>C single nucleotide variant not provided [RCV001621810] Chr7:44152604 [GRCh38]
Chr7:44192203 [GRCh37]
Chr7:7p13
benign
NM_000162.5(GCK):c.46-4713G>A single nucleotide variant not provided [RCV001637831] Chr7:44158176 [GRCh38]
Chr7:44197775 [GRCh37]
Chr7:7p13
benign
NM_000162.5(GCK):c.148del (p.His50fs) deletion not provided [RCV001658822] Chr7:44153361 [GRCh38]
Chr7:44192960 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.675C>T (p.Ile225=) single nucleotide variant Hyperinsulinism due to glucokinase deficiency [RCV001162161]|Maturity-onset diabetes of the young type 2 [RCV001162164]|Permanent neonatal diabetes mellitus [RCV001162162]|Transient Neonatal Diabetes, Recessive [RCV001162163] Chr7:44149764 [GRCh38]
Chr7:44189363 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.3(GCK):c.1255_1264delTTCAAGGAGC deletion Maturity onset diabetes mellitus in young [RCV002463772]|Monogenic diabetes [RCV003313165]|not provided [RCV001008916] Chr7:44145270..44145279 [GRCh38]
Chr7:44184869..44184878 [GRCh37]
Chr7:7p13
likely pathogenic|likely risk allele
NM_000162.5(GCK):c.-455A>G single nucleotide variant Hyperinsulinism due to glucokinase deficiency [RCV001160967]|Maturity onset diabetes mellitus in young [RCV002463781]|Maturity-onset diabetes of the young type 2 [RCV001162557]|Permanent neonatal diabetes mellitus [RCV001160969]|Transient Neonatal Diabetes, Recessive [RCV001160968]|not specified [RCV001819864] Chr7:44189408 [GRCh38]
Chr7:44229007 [GRCh37]
Chr7:7p13
benign|uncertain significance
NM_000162.5(GCK):c.-137C>G single nucleotide variant Hyperinsulinism due to glucokinase deficiency [RCV001160842]|Maturity onset diabetes mellitus in young [RCV002463780]|Maturity-onset diabetes of the young type 2 [RCV001160844]|Permanent neonatal diabetes mellitus [RCV001160843]|Transient Neonatal Diabetes, Recessive [RCV001160845] Chr7:44189090 [GRCh38]
Chr7:44228689 [GRCh37]
Chr7:7p13
benign|uncertain significance
NM_000162.5(GCK):c.1254-20_1312del deletion Maturity onset diabetes mellitus in young [RCV002287476]|Maturity-onset diabetes of the young type 2 [RCV001171548] Chr7:44145222..44145300 [GRCh38]
Chr7:44184821..44184899 [GRCh37]
Chr7:7p13
pathogenic|uncertain significance
NM_000162.5(GCK):c.1248C>T (p.His416=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463775]|not provided [RCV001093386] Chr7:44145502 [GRCh38]
Chr7:44185101 [GRCh37]
Chr7:7p13
likely benign
NM_000162.5(GCK):c.580-11C>T single nucleotide variant Hyperinsulinism due to glucokinase deficiency [RCV001159291]|Maturity onset diabetes mellitus in young [RCV002463778]|Maturity-onset diabetes of the young type 2 [RCV001159292]|Permanent neonatal diabetes mellitus [RCV001159290]|Transient Neonatal Diabetes, Recessive [RCV001160648] Chr7:44149870 [GRCh38]
Chr7:44189469 [GRCh37]
Chr7:7p13
uncertain risk allele|uncertain significance
NM_000162.5(GCK):c.483+26C>A single nucleotide variant Type 2 diabetes mellitus [RCV002468267]|not provided [RCV001548322] Chr7:44150930 [GRCh38]
Chr7:44190529 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.46-5701C>T single nucleotide variant not provided [RCV001588354] Chr7:44159164 [GRCh38]
Chr7:44198763 [GRCh37]
Chr7:7p13
likely benign
NC_000007.14:g.44189469C>T single nucleotide variant not provided [RCV001671272] Chr7:44189469 [GRCh38]
Chr7:44229068 [GRCh37]
Chr7:7p13
benign
NM_000162.5(GCK):c.46-5594A>G single nucleotide variant not provided [RCV001583196] Chr7:44159057 [GRCh38]
Chr7:44198656 [GRCh37]
Chr7:7p13
benign|likely benign
NM_000162.5(GCK):c.610A>G (p.Asn204Asp) single nucleotide variant not provided [RCV001663670] Chr7:44149829 [GRCh38]
Chr7:44189428 [GRCh37]
Chr7:7p13
likely pathogenic|conflicting interpretations of pathogenicity
NM_000162.5(GCK):c.46-4460G>T single nucleotide variant not provided [RCV001586240] Chr7:44157923 [GRCh38]
Chr7:44197522 [GRCh37]
Chr7:7p13
likely benign
NM_000162.5(GCK):c.-217C>G single nucleotide variant Hyperinsulinism due to glucokinase deficiency [RCV001162464]|Maturity onset diabetes mellitus in young [RCV002319667]|Maturity-onset diabetes of the young type 2 [RCV001162466]|Permanent neonatal diabetes mellitus [RCV001162465]|Transient Neonatal Diabetes, Recessive [RCV001162467]|not provided [RCV001556742] Chr7:44189170 [GRCh38]
Chr7:44228769 [GRCh37]
Chr7:7p13
benign|likely benign
NM_000162.5(GCK):c.394G>A (p.Asp132Asn) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV001249061]|Type 2 diabetes mellitus [RCV002499437]|not specified [RCV003230652] Chr7:44151045 [GRCh38]
Chr7:44190644 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.577G>C (p.Gly193Arg) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV001249060] Chr7:44149971 [GRCh38]
Chr7:44189570 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.-456G>A single nucleotide variant Hyperinsulinism due to glucokinase deficiency [RCV001162558]|Maturity onset diabetes mellitus in young [RCV002463782]|Maturity-onset diabetes of the young type 2 [RCV001162561]|Permanent neonatal diabetes mellitus [RCV001162559]|Transient Neonatal Diabetes, Recessive [RCV001162560] Chr7:44189409 [GRCh38]
Chr7:44229008 [GRCh37]
Chr7:7p13
benign|uncertain significance
NM_000162.5(GCK):c.1253+12C>T single nucleotide variant Hyperinsulinism due to glucokinase deficiency [RCV001164095]|Maturity onset diabetes mellitus in young [RCV002463783]|Maturity-onset diabetes of the young type 2 [RCV001164093]|Permanent neonatal diabetes mellitus [RCV001164092]|Transient Neonatal Diabetes, Recessive [RCV001164094] Chr7:44145485 [GRCh38]
Chr7:44185084 [GRCh37]
Chr7:7p13
benign|likely benign|uncertain significance
NM_000162.5(GCK):c.-396C>G single nucleotide variant Hyperinsulinism due to glucokinase deficiency [RCV001164516]|Maturity onset diabetes mellitus in young [RCV002463779]|Maturity-onset diabetes of the young type 2 [RCV001159580]|Permanent neonatal diabetes mellitus [RCV001164518]|Transient Neonatal Diabetes, Recessive [RCV001164517] Chr7:44189349 [GRCh38]
Chr7:44228948 [GRCh37]
Chr7:7p13
benign|uncertain significance
NM_000162.5(GCK):c.316C>T (p.Gln106Ter) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464038]|Maturity-onset diabetes of the young type 2 [RCV001249069] Chr7:44152318 [GRCh38]
Chr7:44191917 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_000162.5(GCK):c.1148del (p.Ser383fs) deletion Maturity onset diabetes mellitus in young [RCV002463793]|Maturity-onset diabetes of the young type 2 [RCV001249585] Chr7:44145602 [GRCh38]
Chr7:44185201 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_000162.5(GCK):c.1120G>T (p.Val374Leu) single nucleotide variant Hyperinsulinism due to glucokinase deficiency [RCV001159191]|Maturity-onset diabetes of the young type 2 [RCV001159189]|Permanent neonatal diabetes mellitus [RCV001159188]|Transient Neonatal Diabetes, Recessive [RCV001159190] Chr7:44145630 [GRCh38]
Chr7:44185229 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.483+3G>A single nucleotide variant Hyperinsulinism due to glucokinase deficiency [RCV001160649]|Maturity onset diabetes mellitus in young [RCV002464035]|Maturity-onset diabetes of the young type 2 [RCV001160651]|Permanent neonatal diabetes mellitus [RCV001160650]|Transient Neonatal Diabetes, Recessive [RCV001160652]|not provided [RCV002032487] Chr7:44150953 [GRCh38]
Chr7:44190552 [GRCh37]
Chr7:7p13
benign|uncertain significance
NM_000162.5(GCK):c.435C>G (p.Pro145=) single nucleotide variant Hyperinsulinism due to glucokinase deficiency [RCV001160655]|Maturity onset diabetes mellitus in young [RCV002464036]|Maturity-onset diabetes of the young type 2 [RCV001160654]|Permanent neonatal diabetes mellitus [RCV001160653]|Transient Neonatal Diabetes, Recessive [RCV001162264] Chr7:44151004 [GRCh38]
Chr7:44190603 [GRCh37]
Chr7:7p13
likely benign|uncertain significance
NM_000162.5(GCK):c.35A>G (p.Lys12Arg) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV001252995] Chr7:44188919 [GRCh38]
Chr7:44228518 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.214G>C (p.Gly72Arg) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV001253600] Chr7:44152420 [GRCh38]
Chr7:44192019 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.1154G>A (p.Gly385Glu) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463796]|Type 2 diabetes mellitus [RCV001262180] Chr7:44145596 [GRCh38]
Chr7:44185195 [GRCh37]
Chr7:7p13
likely pathogenic|likely risk allele
NM_000162.5(GCK):c.529_530delinsTT (p.Glu177Leu) indel Maturity onset diabetes mellitus in young [RCV002463794]|Maturity-onset diabetes of the young type 2 [RCV001253516] Chr7:44150018..44150019 [GRCh38]
Chr7:44189617..44189618 [GRCh37]
Chr7:7p13
uncertain risk allele|uncertain significance
NM_000162.5(GCK):c.1147T>C (p.Ser383Pro) single nucleotide variant not provided [RCV001663648] Chr7:44145603 [GRCh38]
Chr7:44185202 [GRCh37]
Chr7:7p13
conflicting interpretations of pathogenicity|uncertain significance
NM_000162.5(GCK):c.1178T>C (p.Met393Thr) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463795]|Maturity-onset diabetes of the young type 2 [RCV001261199] Chr7:44145572 [GRCh38]
Chr7:44185171 [GRCh37]
Chr7:7p13
likely pathogenic|likely risk allele
NM_000162.5(GCK):c.762T>G (p.Asn254Lys) single nucleotide variant not provided [RCV001349584] Chr7:44147751 [GRCh38]
Chr7:44187350 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.108G>A (p.Arg36=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464039]|not specified [RCV001264599] Chr7:44153401 [GRCh38]
Chr7:44193000 [GRCh37]
Chr7:7p13
benign|likely benign
NM_000162.5(GCK):c.680-15C>A single nucleotide variant Maturity onset diabetes mellitus in young [RCV003329393]|not provided [RCV001289441]|not specified [RCV001269173] Chr7:44147848 [GRCh38]
Chr7:44187447 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain significance
NM_000162.5(GCK):c.868G>A (p.Glu290Lys) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463803]|not provided [RCV001288183] Chr7:44146614 [GRCh38]
Chr7:44186213 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain significance
NM_000162.5(GCK):c.363+318G>A single nucleotide variant not provided [RCV001537051] Chr7:44151953 [GRCh38]
Chr7:44191552 [GRCh37]
Chr7:7p13
benign
NM_000162.5(GCK):c.1219G>A (p.Gly407Ser) single nucleotide variant Inborn genetic diseases [RCV001266778]|Maturity onset diabetes mellitus in young [RCV002463797] Chr7:44145531 [GRCh38]
Chr7:44185130 [GRCh37]
Chr7:7p13
likely risk allele|uncertain significance
NM_000162.5(GCK):c.818A>T (p.Tyr273Phe) single nucleotide variant Inborn genetic diseases [RCV001266917]|Maturity onset diabetes mellitus in young [RCV002463799] Chr7:44147695 [GRCh38]
Chr7:44187294 [GRCh37]
Chr7:7p13
uncertain risk allele|uncertain significance
NM_000162.5(GCK):c.822C>A (p.Asp274Glu) single nucleotide variant not provided [RCV001288182] Chr7:44147691 [GRCh38]
Chr7:44187290 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.884G>A (p.Gly295Asp) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463804]|Monogenic diabetes [RCV003331105]|not provided [RCV001288184] Chr7:44146598 [GRCh38]
Chr7:44186197 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic|likely risk allele|conflicting interpretations of pathogenicity
NM_000162.5(GCK):c.770G>C (p.Trp257Ser) single nucleotide variant not provided [RCV001288181] Chr7:44147743 [GRCh38]
Chr7:44187342 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.1190G>A (p.Arg397His) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV003330326]|not provided [RCV001288975] Chr7:44145560 [GRCh38]
Chr7:44185159 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain significance
NM_000162.5(GCK):c.1280_1283dup (p.Arg429fs) duplication Maturity onset diabetes mellitus in young [RCV002287491]|Maturity-onset diabetes of the young type 2 [RCV003399057]|not provided [RCV001288977] Chr7:44145250..44145251 [GRCh38]
Chr7:44184849..44184850 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic|uncertain significance
NM_000162.5(GCK):c.914T>G (p.Val305Gly) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463805]|not provided [RCV001288186] Chr7:44146568 [GRCh38]
Chr7:44186167 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain significance
NM_000162.5(GCK):c.230T>C (p.Leu77Pro) single nucleotide variant not provided [RCV001289436] Chr7:44152404 [GRCh38]
Chr7:44192003 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.454T>C (p.Phe152Leu) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464040]|not provided [RCV001289439] Chr7:44150985 [GRCh38]
Chr7:44190584 [GRCh37]
Chr7:7p13
likely risk allele|uncertain significance
NM_000162.5(GCK):c.286G>T (p.Glu96Ter) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002465863]|not provided [RCV001289437] Chr7:44152348 [GRCh38]
Chr7:44191947 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.808CTG[1] (p.Leu271del) microsatellite Maturity onset diabetes mellitus in young [RCV002463801]|Monogenic diabetes [RCV003481051]|not specified [RCV001280588] Chr7:44147700..44147702 [GRCh38]
Chr7:44187299..44187301 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.364-13G>A single nucleotide variant Maturity onset diabetes mellitus in young [RCV003106181]|not provided [RCV001289438]|not specified [RCV003331107] Chr7:44151088 [GRCh38]
Chr7:44190687 [GRCh37]
Chr7:7p13
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000162.5(GCK):c.737G>A (p.Gly246Glu) single nucleotide variant not provided [RCV001289444]|not specified [RCV002246277] Chr7:44147776 [GRCh38]
Chr7:44187375 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain significance
NM_000162.5(GCK):c.971T>G (p.Leu324Arg) single nucleotide variant not provided [RCV001288187] Chr7:44146511 [GRCh38]
Chr7:44186110 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.397T>C (p.Phe133Leu) single nucleotide variant Maturity onset diabetes mellitus in young [RCV001391314]|not specified [RCV001844289] Chr7:44151042 [GRCh38]
Chr7:44190641 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain significance
NM_000162.5(GCK):c.1163G>A (p.Gly388Asp) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002322180]|Monogenic diabetes [RCV003446686]|not provided [RCV001288974] Chr7:44145587 [GRCh38]
Chr7:44185186 [GRCh37]
Chr7:7p13
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000162.5(GCK):c.1139A>C (p.His380Pro) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002322436]|Maturity-onset diabetes of the young type 2 [RCV003388013]|Monogenic diabetes [RCV003330328] Chr7:44145611 [GRCh38]
Chr7:44185210 [GRCh37]
Chr7:7p13
pathogenic|uncertain significance
NM_000162.5(GCK):c.491T>C (p.Leu164Pro) single nucleotide variant Maturity onset diabetes mellitus in young [RCV003127763]|Maturity-onset diabetes of the young type 2 [RCV001293474]|not provided [RCV001871744] Chr7:44150057 [GRCh38]
Chr7:44189656 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000162.5(GCK):c.115_117del (p.Lys39del) deletion Maturity onset diabetes mellitus in young [RCV002464439]|Maturity-onset diabetes of the young type 2 [RCV002227265]|not provided [RCV001288972] Chr7:44153392..44153394 [GRCh38]
Chr7:44192991..44192993 [GRCh37]
Chr7:7p13
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000162.5(GCK):c.1150G>C (p.Ala384Pro) single nucleotide variant not provided [RCV001288973] Chr7:44145600 [GRCh38]
Chr7:44185199 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.1284_1362del (p.Arg429fs) deletion Maturity onset diabetes mellitus in young [RCV002287492]|Maturity-onset diabetes of the young type 2 [RCV003399058]|not provided [RCV001288978] Chr7:44145172..44145250 [GRCh38]
Chr7:44184771..44184849 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic|uncertain significance
NM_000162.5(GCK):c.666del (p.Gly223fs) deletion Maturity onset diabetes mellitus in young [RCV002463806]|not provided [RCV001289440] Chr7:44149773 [GRCh38]
Chr7:44189372 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_000162.5(GCK):c.736G>A (p.Gly246Arg) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463807]|Monogenic diabetes [RCV003446687]|not provided [RCV001289443] Chr7:44147777 [GRCh38]
Chr7:44187376 [GRCh37]
Chr7:7p13
pathogenic|uncertain risk allele|uncertain significance
GRCh37/hg19 7p14.1-12.3(chr7:41124364-47945566) copy number loss Syndactyly [RCV001352654] Chr7:41124364..47945566 [GRCh37]
Chr7:7p14.1-12.3
pathogenic
NM_000162.5(GCK):c.415A>T (p.Met139Leu) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464449]|Type 2 diabetes mellitus [RCV001329663]|Type 2 diabetes mellitus [RCV002476541] Chr7:44151024 [GRCh38]
Chr7:44190623 [GRCh37]
Chr7:7p13
uncertain significance
GRCh37/hg19 7p13-12.2(chr7:43341583-50171623) copy number loss Intracranial hemorrhage [RCV001352658] Chr7:43341583..50171623 [GRCh37]
Chr7:7p13-12.2
pathogenic
NM_000162.5(GCK):c.1309A>C (p.Thr437Pro) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463808]|not specified [RCV001293492] Chr7:44145225 [GRCh38]
Chr7:44184824 [GRCh37]
Chr7:7p13
uncertain risk allele|uncertain significance
NM_000162.5(GCK):c.359dup (p.Met121fs) duplication Permanent neonatal diabetes mellitus 1 [RCV002290704]|not provided [RCV001387680] Chr7:44152274..44152275 [GRCh38]
Chr7:44191873..44191874 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_000162.5(GCK):c.82G>A (p.Glu28Lys) single nucleotide variant Maturity onset diabetes mellitus in young [RCV001526668] Chr7:44153427 [GRCh38]
Chr7:44193026 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.660C>A (p.Cys220Ter) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002368554]|Maturity-onset diabetes of the young type 2 [RCV001527032]|Monogenic diabetes [RCV003399324]|Type 2 diabetes mellitus [RCV002488347]|not provided [RCV001658238] Chr7:44149779 [GRCh38]
Chr7:44189378 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_000162.5(GCK):c.46-4391T>C single nucleotide variant not provided [RCV001715140] Chr7:44157854 [GRCh38]
Chr7:44197453 [GRCh37]
Chr7:7p13
benign
NM_000162.5(GCK):c.691A>G (p.Asn231Asp) single nucleotide variant not specified [RCV001527031] Chr7:44147822 [GRCh38]
Chr7:44187421 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.1216G>A (p.Val406Met) single nucleotide variant not provided [RCV001756592] Chr7:44145534 [GRCh38]
Chr7:44185133 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.1312T>G (p.Phe438Val) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV002227427] Chr7:44145222 [GRCh38]
Chr7:44184821 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.1166TCA[1] (p.Ile390del) microsatellite not provided [RCV001756593] Chr7:44145579..44145581 [GRCh38]
Chr7:44185178..44185180 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.878T>C (p.Ile293Thr) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV002285492]|not provided [RCV001756594] Chr7:44146604 [GRCh38]
Chr7:44186203 [GRCh37]
Chr7:7p13
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000162.5(GCK):c.142G>A (p.Glu48Lys) single nucleotide variant Hyperinsulinism due to glucokinase deficiency [RCV001730073]|not specified [RCV003331193] Chr7:44153367 [GRCh38]
Chr7:44192966 [GRCh37]
Chr7:7p13
likely benign|uncertain significance
NM_000162.5(GCK):c.1017G>C (p.Glu339Asp) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV002249054] Chr7:44146465 [GRCh38]
Chr7:44186064 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain significance
NM_000162.5(GCK):c.45+3A>T single nucleotide variant not provided [RCV001773126] Chr7:44188906 [GRCh38]
Chr7:44228505 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.1278_1279del (p.Val427fs) deletion Maturity-onset diabetes of the young type 2 [RCV001732836]|Monogenic diabetes [RCV003313229] Chr7:44145255..44145256 [GRCh38]
Chr7:44184854..44184855 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_000162.5(GCK):c.1174C>G (p.Arg392Gly) single nucleotide variant Monogenic diabetes [RCV003326000]|not provided [RCV001732837] Chr7:44145576 [GRCh38]
Chr7:44185175 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain significance
NM_000162.5(GCK):c.340dup (p.Ala114fs) duplication not provided [RCV003237503] Chr7:44152293..44152294 [GRCh38]
Chr7:44191892..44191893 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.1322C>G (p.Ser441Trp) single nucleotide variant GCK-related condition [RCV003401708]|Monogenic diabetes [RCV003313230]|not provided [RCV001776634] Chr7:44145212 [GRCh38]
Chr7:44184811 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_000162.5(GCK):c.18del (p.Arg7fs) deletion not provided [RCV001783356] Chr7:44188936 [GRCh38]
Chr7:44228535 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.499T>G (p.Trp167Gly) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463814]|not provided [RCV001773066] Chr7:44150049 [GRCh38]
Chr7:44189648 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain significance
NM_000162.5(GCK):c.1222G>A (p.Val408Met) single nucleotide variant not provided [RCV001733092]|not specified [RCV002222722] Chr7:44145528 [GRCh38]
Chr7:44185127 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.352A>G (p.Thr118Ala) single nucleotide variant not provided [RCV001774393] Chr7:44152282 [GRCh38]
Chr7:44191881 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.16G>A (p.Ala6Thr) single nucleotide variant not provided [RCV001769217] Chr7:44188938 [GRCh38]
Chr7:44228537 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.501G>T (p.Trp167Cys) single nucleotide variant not provided [RCV001765792] Chr7:44150047 [GRCh38]
Chr7:44189646 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.-457C>T single nucleotide variant not provided [RCV001752307] Chr7:44189410 [GRCh38]
Chr7:44229009 [GRCh37]
Chr7:7p13
uncertain significance
NC_000007.14:g.44189504G>A single nucleotide variant not provided [RCV001754196] Chr7:44189504 [GRCh38]
Chr7:44229103 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.422A>C (p.His141Pro) single nucleotide variant not specified [RCV001817801] Chr7:44151017 [GRCh38]
Chr7:44190616 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.606_607insACACCGT (p.Val203fs) insertion not provided [RCV001817868] Chr7:44149832..44149833 [GRCh38]
Chr7:44189431..44189432 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.1319A>G (p.Glu440Gly) single nucleotide variant not specified [RCV001817894] Chr7:44145215 [GRCh38]
Chr7:44184814 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.158C>T (p.Ala53Val) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV002285503]|not provided [RCV001817947] Chr7:44153351 [GRCh38]
Chr7:44192950 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000162.5(GCK):c.1120G>C (p.Val374Leu) single nucleotide variant not provided [RCV001818056] Chr7:44145630 [GRCh38]
Chr7:44185229 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.333C>G (p.Pro111=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002319726]|not specified [RCV001819246] Chr7:44152301 [GRCh38]
Chr7:44191900 [GRCh37]
Chr7:7p13
benign|likely benign
NM_000162.5(GCK):c.-98C>T single nucleotide variant not specified [RCV001822212] Chr7:44189051 [GRCh38]
Chr7:44228650 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.-299A>G single nucleotide variant not specified [RCV001817200] Chr7:44189252 [GRCh38]
Chr7:44228851 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.-375C>T single nucleotide variant not specified [RCV001817382] Chr7:44189328 [GRCh38]
Chr7:44228927 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.-281G>C single nucleotide variant not specified [RCV001817445] Chr7:44189234 [GRCh38]
Chr7:44228833 [GRCh37]
Chr7:7p13
likely benign
NM_000162.5(GCK):c.356C>A (p.Ala119Asp) single nucleotide variant not provided [RCV001817658] Chr7:44152278 [GRCh38]
Chr7:44191877 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.215G>A (p.Gly72Glu) single nucleotide variant not provided [RCV001822813] Chr7:44152419 [GRCh38]
Chr7:44192018 [GRCh37]
Chr7:7p13
likely pathogenic|conflicting interpretations of pathogenicity
NM_000162.5(GCK):c.423C>A (p.His141Gln) single nucleotide variant not specified [RCV001817780] Chr7:44151016 [GRCh38]
Chr7:44190615 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.1324G>T (p.Glu442Ter) single nucleotide variant not provided [RCV001817893] Chr7:44145210 [GRCh38]
Chr7:44184809 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.926T>C (p.Leu309Pro) single nucleotide variant not provided [RCV001817944] Chr7:44146556 [GRCh38]
Chr7:44186155 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.835G>A (p.Glu279Lys) single nucleotide variant not specified [RCV001817969] Chr7:44147678 [GRCh38]
Chr7:44187277 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.1245del (p.His416fs) deletion not provided [RCV001817991] Chr7:44145505 [GRCh38]
Chr7:44185104 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.317del (p.Gln106fs) deletion not provided [RCV001818038] Chr7:44152317 [GRCh38]
Chr7:44191916 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.981C>G (p.Arg327=) single nucleotide variant not specified [RCV001820468] Chr7:44146501 [GRCh38]
Chr7:44186100 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.3(GCK):c.-534C>T single nucleotide variant not specified [RCV001820516] Chr7:44189487 [GRCh38]
Chr7:44229086 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.511T>G (p.Phe171Val) single nucleotide variant not provided [RCV001822844] Chr7:44150037 [GRCh38]
Chr7:44189636 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.1020-19_1020-5dup duplication not specified [RCV001822845] Chr7:44145734..44145735 [GRCh38]
Chr7:44185333..44185334 [GRCh37]
Chr7:7p13
likely benign
NM_000162.5(GCK):c.671T>C (p.Met224Thr) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV002052003]|not provided [RCV001975403] Chr7:44149768 [GRCh38]
Chr7:44189367 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic|uncertain significance
NM_000162.5(GCK):c.307del (p.Thr103fs) deletion not provided [RCV001945880] Chr7:44152327 [GRCh38]
Chr7:44191926 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.175C>G (p.Pro59Ala) single nucleotide variant not provided [RCV001837096] Chr7:44153334 [GRCh38]
Chr7:44192933 [GRCh37]
Chr7:7p13
likely pathogenic
GRCh37/hg19 7p14.1-12.2(chr7:40778439-50228656) copy number loss not specified [RCV002053688] Chr7:40778439..50228656 [GRCh37]
Chr7:7p14.1-12.2
pathogenic
NM_000162.5(GCK):c.188G>T (p.Arg63Leu) single nucleotide variant not provided [RCV002022599] Chr7:44153321 [GRCh38]
Chr7:44192920 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.1335T>A (p.Ser445Arg) single nucleotide variant not provided [RCV002004046] Chr7:44145199 [GRCh38]
Chr7:44184798 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.1271A>C (p.His424Pro) single nucleotide variant not provided [RCV002001467] Chr7:44145263 [GRCh38]
Chr7:44184862 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.179C>T (p.Thr60Ile) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002406905]|not specified [RCV001844458] Chr7:44153330 [GRCh38]
Chr7:44192929 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.1251del (p.Ser418fs) deletion Maturity-onset diabetes of the young type 2 [RCV002052274] Chr7:44145499 [GRCh38]
Chr7:44185098 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.1098C>T (p.Ile366=) single nucleotide variant not specified [RCV001844459] Chr7:44145652 [GRCh38]
Chr7:44185251 [GRCh37]
Chr7:7p13
likely benign
NM_000162.5(GCK):c.863+32C>A single nucleotide variant not provided [RCV002034837] Chr7:44147618 [GRCh38]
Chr7:44187217 [GRCh37]
Chr7:7p13
likely benign
NM_000162.5(GCK):c.501G>A (p.Trp167Ter) single nucleotide variant not provided [RCV001962787] Chr7:44150047 [GRCh38]
Chr7:44189646 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.1340_1368del (p.Arg447fs) deletion Monogenic diabetes [RCV003326004]|not provided [RCV001961876] Chr7:44145166..44145194 [GRCh38]
Chr7:44184765..44184793 [GRCh37]
Chr7:7p13
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000162.5(GCK):c.140dup (p.Glu48fs) duplication not provided [RCV002037630] Chr7:44153368..44153369 [GRCh38]
Chr7:44192967..44192968 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.867T>A (p.Tyr289Ter) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002370606]|not provided [RCV001941538] Chr7:44146615 [GRCh38]
Chr7:44186214 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.1162_1364del203 (p.Val389fs) deletion not provided [RCV001999987] Chr7:44145167..44145585 [GRCh38]
Chr7:44184766..44185184 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.320dup (p.Met107fs) duplication not provided [RCV002000079] Chr7:44152313..44152314 [GRCh38]
Chr7:44191912..44191913 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.674T>C (p.Ile225Thr) single nucleotide variant not provided [RCV001942615] Chr7:44149765 [GRCh38]
Chr7:44189364 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.503C>T (p.Thr168Ile) single nucleotide variant Monogenic diabetes [RCV003446980]|not provided [RCV001978541] Chr7:44150045 [GRCh38]
Chr7:44189644 [GRCh37]
Chr7:7p13
pathogenic|uncertain significance
NM_000162.5(GCK):c.251T>C (p.Phe84Ser) single nucleotide variant not provided [RCV002049532] Chr7:44152383 [GRCh38]
Chr7:44191982 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.1019G>A (p.Ser340Asn) single nucleotide variant Maturity onset diabetes mellitus in young [RCV003329421]|not provided [RCV001903778] Chr7:44146463 [GRCh38]
Chr7:44186062 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain significance
NM_000162.5(GCK):c.48_50del (p.Glu17del) deletion not provided [RCV001903798] Chr7:44153459..44153461 [GRCh38]
Chr7:44193058..44193060 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.86del (p.Asp29fs) deletion not provided [RCV001881812] Chr7:44153423 [GRCh38]
Chr7:44193022 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.728T>C (p.Leu243Pro) single nucleotide variant not provided [RCV001953519] Chr7:44147785 [GRCh38]
Chr7:44187384 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.46-3C>G single nucleotide variant not provided [RCV001920110] Chr7:44153466 [GRCh38]
Chr7:44193065 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.388A>T (p.Ile130Phe) single nucleotide variant not provided [RCV001978311] Chr7:44151051 [GRCh38]
Chr7:44190650 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.880G>T (p.Gly294Cys) single nucleotide variant not provided [RCV001879123] Chr7:44146602 [GRCh38]
Chr7:44186201 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.452C>A (p.Ser151Tyr) single nucleotide variant not provided [RCV002029930] Chr7:44150987 [GRCh38]
Chr7:44190586 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.898G>A (p.Glu300Lys) single nucleotide variant Monogenic diabetes [RCV003326005]|not provided [RCV001931730] Chr7:44146584 [GRCh38]
Chr7:44186183 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain significance
NM_000162.5(GCK):c.1181G>T (p.Arg394Leu) single nucleotide variant Monogenic diabetes [RCV003318510]|not provided [RCV002048713] Chr7:44145569 [GRCh38]
Chr7:44185168 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.946T>C (p.Phe316Leu) single nucleotide variant not provided [RCV001998544] Chr7:44146536 [GRCh38]
Chr7:44186135 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.551T>C (p.Leu184Pro) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV003159566]|not provided [RCV001996845]|not specified [RCV002282665] Chr7:44149997 [GRCh38]
Chr7:44189596 [GRCh37]
Chr7:7p13
pathogenic|uncertain significance
NM_000162.5(GCK):c.717G>C (p.Gln239His) single nucleotide variant not provided [RCV002031377] Chr7:44147796 [GRCh38]
Chr7:44187395 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.1228G>C (p.Gly410Arg) single nucleotide variant not provided [RCV001977269] Chr7:44145522 [GRCh38]
Chr7:44185121 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.349G>C (p.Gly117Arg) single nucleotide variant Monogenic diabetes [RCV003446984]|not provided [RCV002019233] Chr7:44152285 [GRCh38]
Chr7:44191884 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain significance
NM_000162.5(GCK):c.917T>G (p.Leu306Arg) single nucleotide variant not provided [RCV001903779] Chr7:44146565 [GRCh38]
Chr7:44186164 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.329T>G (p.Ile110Ser) single nucleotide variant not provided [RCV001903794] Chr7:44152305 [GRCh38]
Chr7:44191904 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.146C>T (p.Thr49Ile) single nucleotide variant not provided [RCV002047952] Chr7:44153363 [GRCh38]
Chr7:44192962 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.776C>A (p.Ala259Asp) single nucleotide variant not provided [RCV002009866] Chr7:44147737 [GRCh38]
Chr7:44187336 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.181T>A (p.Tyr61Asn) single nucleotide variant not provided [RCV001955981] Chr7:44153328 [GRCh38]
Chr7:44192927 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.600G>A (p.Val200=) single nucleotide variant not provided [RCV002226133] Chr7:44149839 [GRCh38]
Chr7:44189438 [GRCh37]
Chr7:7p13
benign|likely benign
NM_000162.5(GCK):c.483+7C>T single nucleotide variant not provided [RCV002107182] Chr7:44150949 [GRCh38]
Chr7:44190548 [GRCh37]
Chr7:7p13
likely benign
NM_000162.5(GCK):c.579+12C>G single nucleotide variant Type 2 diabetes mellitus [RCV002494421]|not provided [RCV002128363] Chr7:44149957 [GRCh38]
Chr7:44189556 [GRCh37]
Chr7:7p13
likely benign
NM_000162.5(GCK):c.483+8G>A single nucleotide variant not provided [RCV002087934] Chr7:44150948 [GRCh38]
Chr7:44190547 [GRCh37]
Chr7:7p13
likely benign
NM_000162.5(GCK):c.46-5598A>T single nucleotide variant Type 2 diabetes mellitus [RCV002505887]|not provided [RCV002226064] Chr7:44159061 [GRCh38]
Chr7:44198660 [GRCh37]
Chr7:7p13
benign|likely benign
NM_000162.5(GCK):c.751A>G (p.Met251Val) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV002225198] Chr7:44147762 [GRCh38]
Chr7:44187361 [GRCh37]
Chr7:7p13
pathogenic
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_000162.5(GCK):c.524G>C (p.Gly175Ala) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002337411]|Maturity-onset diabetes of the young type 2 [RCV002227434] Chr7:44150024 [GRCh38]
Chr7:44189623 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain significance
NM_000162.5(GCK):c.269A>C (p.Lys90Thr) single nucleotide variant Hyperinsulinism due to glucokinase deficiency [RCV002221403] Chr7:44152365 [GRCh38]
Chr7:44191964 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.270G>A (p.Lys90=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002427635]|Type 2 diabetes mellitus [RCV002486876]|not provided [RCV002122245] Chr7:44152364 [GRCh38]
Chr7:44191963 [GRCh37]
Chr7:7p13
likely benign
NM_000162.5(GCK):c.917T>A (p.Leu306Gln) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV002249055] Chr7:44146565 [GRCh38]
Chr7:44186164 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.579G>T (p.Gly193=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV003329437]|Maturity-onset diabetes of the young type 3 [RCV002244300] Chr7:44149969 [GRCh38]
Chr7:44189568 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_000162.5(GCK):c.614A>G (p.Asp205Gly) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV002227422] Chr7:44149825 [GRCh38]
Chr7:44189424 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.771G>A (p.Trp257Ter) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV002227424]|Monogenic diabetes [RCV002509759] Chr7:44147742 [GRCh38]
Chr7:44187341 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_000162.5(GCK):c.208G>A (p.Glu70Lys) single nucleotide variant Maturity onset diabetes mellitus in young [RCV003329435]|Maturity-onset diabetes of the young type 2 [RCV002227431]|not provided [RCV002473357] Chr7:44153301 [GRCh38]
Chr7:44192900 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_000162.5(GCK):c.208+2T>C single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV002227432] Chr7:44153299 [GRCh38]
Chr7:44192898 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_000162.5(GCK):c.54G>T (p.Gln18His) single nucleotide variant not provided [RCV002222321] Chr7:44153455 [GRCh38]
Chr7:44193054 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.1020-7C>T single nucleotide variant not provided [RCV003116881] Chr7:44145737 [GRCh38]
Chr7:44185336 [GRCh37]
Chr7:7p13
likely benign
NM_000162.5(GCK):c.437T>C (p.Leu146Pro) single nucleotide variant Monogenic diabetes [RCV003326023]|not provided [RCV003120282] Chr7:44151002 [GRCh38]
Chr7:44190601 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.692A>T (p.Asn231Ile) single nucleotide variant Hyperinsulinism due to glucokinase deficiency [RCV003147992]|Maturity-onset diabetes of the young type 2 [RCV003147993]|Permanent neonatal diabetes mellitus 1 [RCV003147994]|Type 2 diabetes mellitus [RCV003147991] Chr7:44147821 [GRCh38]
Chr7:44187420 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.941T>G (p.Leu314Arg) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV002227425] Chr7:44146541 [GRCh38]
Chr7:44186140 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.501G>C (p.Trp167Cys) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV002250012] Chr7:44150047 [GRCh38]
Chr7:44189646 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.641dup (p.Tyr214Ter) duplication Maturity-onset diabetes of the young type 2 [RCV002272801] Chr7:44149797..44149798 [GRCh38]
Chr7:44189396..44189397 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.614A>T (p.Asp205Val) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV002227423] Chr7:44149825 [GRCh38]
Chr7:44189424 [GRCh37]
Chr7:7p13
likely pathogenic
NM_033507.3(GCK):c.520G>C (p.Ala174Pro) single nucleotide variant not provided [RCV002255216] Chr7:44150031 [GRCh38]
Chr7:44189630 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.864G>C (p.Leu288=) single nucleotide variant not provided [RCV002254461]|not specified [RCV003479415] Chr7:44146618 [GRCh38]
Chr7:44186217 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.52C>T (p.Gln18Ter) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV002227421] Chr7:44153457 [GRCh38]
Chr7:44193056 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.1079C>A (p.Ser360Ter) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV002227426] Chr7:44145671 [GRCh38]
Chr7:44185270 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.475A>G (p.Ile159Val) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV002227428]|not provided [RCV002280206] Chr7:44150964 [GRCh38]
Chr7:44190563 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.102G>A (p.Met34Ile) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV002227430] Chr7:44153407 [GRCh38]
Chr7:44193006 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.485G>A (p.Gly162Asp) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV002227433] Chr7:44150063 [GRCh38]
Chr7:44189662 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.1391_1392del (p.Gly464fs) deletion Monogenic diabetes [RCV003234756] Chr7:44145142..44145143 [GRCh38]
Chr7:44184741..44184742 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.810_814del (p.Leu271fs) deletion Monogenic diabetes [RCV003230883] Chr7:44147699..44147703 [GRCh38]
Chr7:44187298..44187302 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.774C>T (p.Gly258=) single nucleotide variant not provided [RCV002278983] Chr7:44147739 [GRCh38]
Chr7:44187338 [GRCh37]
Chr7:7p13
likely benign
NM_000162.5(GCK):c.374A>G (p.Tyr125Cys) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV002283770] Chr7:44151065 [GRCh38]
Chr7:44190664 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.785dup (p.Asp262fs) duplication Maturity-onset diabetes of the young type 2 [RCV002290224] Chr7:44147727..44147728 [GRCh38]
Chr7:44187326..44187327 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.866A>G (p.Tyr289Cys) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV002290240] Chr7:44146616 [GRCh38]
Chr7:44186215 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.1270C>T (p.His424Tyr) single nucleotide variant GCK-related condition [RCV003395445]|Maturity-onset diabetes of the young type 2 [RCV002290072]|Monogenic diabetes [RCV003445164] Chr7:44145264 [GRCh38]
Chr7:44184863 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain significance
NM_000162.5(GCK):c.469G>T (p.Glu157Ter) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV002289142] Chr7:44150970 [GRCh38]
Chr7:44190569 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.209-1G>A single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV002285554]|not provided [RCV003096186] Chr7:44152426 [GRCh38]
Chr7:44192025 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_000162.5(GCK):c.461T>C (p.Val154Ala) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV002285557] Chr7:44150978 [GRCh38]
Chr7:44190577 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.1150G>A (p.Ala384Thr) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002348865] Chr7:44145600 [GRCh38]
Chr7:44185199 [GRCh37]
Chr7:7p13
conflicting interpretations of pathogenicity|uncertain significance
NM_000162.5(GCK):c.149A>T (p.His50Leu) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV002289503] Chr7:44153360 [GRCh38]
Chr7:44192959 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.881G>T (p.Gly294Val) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV002286464] Chr7:44146601 [GRCh38]
Chr7:44186200 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.1354G>C (p.Val452Leu) single nucleotide variant Familial hyperinsulinism [RCV003236379] Chr7:44145180 [GRCh38]
Chr7:44184779 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.1351del (p.Leu451fs) deletion Monogenic diabetes [RCV003313269]|not provided [RCV002288201] Chr7:44145183 [GRCh38]
Chr7:44184782 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.150dup (p.Glu51Ter) duplication Maturity-onset diabetes of the young type 2 [RCV002289504] Chr7:44153358..44153359 [GRCh38]
Chr7:44192957..44192958 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.1019+2T>C single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV002285550] Chr7:44146461 [GRCh38]
Chr7:44186060 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.122T>G (p.Met41Arg) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV002285551] Chr7:44153387 [GRCh38]
Chr7:44192986 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.296G>A (p.Trp99Ter) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV002285555] Chr7:44152338 [GRCh38]
Chr7:44191937 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.351_358del (p.Thr118fs) deletion Maturity-onset diabetes of the young type 2 [RCV002285556] Chr7:44152276..44152283 [GRCh38]
Chr7:44191875..44191882 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.864-1G>C single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV002285561] Chr7:44146619 [GRCh38]
Chr7:44186218 [GRCh37]
Chr7:7p13
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3
uncertain significance
NM_000162.5(GCK):c.300C>T (p.Ser100=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002435759] Chr7:44152334 [GRCh38]
Chr7:44191933 [GRCh37]
Chr7:7p13
likely benign
NM_000162.5(GCK):c.132C>T (p.Gly44=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002385891] Chr7:44153377 [GRCh38]
Chr7:44192976 [GRCh37]
Chr7:7p13
likely benign
NM_000162.5(GCK):c.389T>C (p.Ile130Thr) single nucleotide variant not provided [RCV002281461] Chr7:44151050 [GRCh38]
Chr7:44190649 [GRCh37]
Chr7:7p13
likely pathogenic|conflicting interpretations of pathogenicity
NM_000162.5(GCK):c.580-13_580-1del deletion Maturity-onset diabetes of the young type 2 [RCV002285559] Chr7:44149860..44149872 [GRCh38]
Chr7:44189459..44189471 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.1310C>G (p.Thr437Ser) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002385433] Chr7:44145224 [GRCh38]
Chr7:44184823 [GRCh37]
Chr7:7p13
uncertain risk allele|uncertain significance
NM_000162.5(GCK):c.1123T>A (p.Ser375Thr) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463842] Chr7:44145627 [GRCh38]
Chr7:44185226 [GRCh37]
Chr7:7p13
likely risk allele
NM_000162.5(GCK):c.580-13T>C single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463979] Chr7:44149872 [GRCh38]
Chr7:44189471 [GRCh37]
Chr7:7p13
likely benign
NM_000162.5(GCK):c.1013T>G (p.Val338Gly) single nucleotide variant not provided [RCV002297574] Chr7:44146469 [GRCh38]
Chr7:44186068 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.384G>C (p.Glu128Asp) single nucleotide variant not provided [RCV002281393] Chr7:44151055 [GRCh38]
Chr7:44190654 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.1247A>G (p.His416Arg) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV002285552] Chr7:44145503 [GRCh38]
Chr7:44185102 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.1264C>T (p.Arg422Trp) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002443287]|Maturity-onset diabetes of the young type 2 [RCV002285553] Chr7:44145270 [GRCh38]
Chr7:44184869 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain significance
NM_000162.5(GCK):c.878T>G (p.Ile293Arg) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV002285562] Chr7:44146604 [GRCh38]
Chr7:44186203 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.627GAT[3] (p.Met210_Ile211insMet) microsatellite Maturity onset diabetes mellitus in young [RCV002368789] Chr7:44149806..44149807 [GRCh38]
Chr7:44189405..44189406 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.962_963dup (p.Glu322fs) duplication Maturity onset diabetes mellitus in young [RCV002385341] Chr7:44146518..44146519 [GRCh38]
Chr7:44186117..44186118 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.1145G>C (p.Cys382Ser) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV002289017] Chr7:44145605 [GRCh38]
Chr7:44185204 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.367T>C (p.Phe123Leu) single nucleotide variant not provided [RCV003151529] Chr7:44151072 [GRCh38]
Chr7:44190671 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.1020-33_1025del deletion not provided [RCV003152185] Chr7:44145725..44145763 [GRCh38]
Chr7:44185324..44185362 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.940del (p.Leu314fs) deletion Maturity-onset diabetes of the young type 2 [RCV002466918] Chr7:44146542 [GRCh38]
Chr7:44186141 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.1108G>C (p.Ala370Pro) single nucleotide variant not provided [RCV002475237] Chr7:44145642 [GRCh38]
Chr7:44185241 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.137G>A (p.Arg46Lys) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002465951] Chr7:44153372 [GRCh38]
Chr7:44192971 [GRCh37]
Chr7:7p13
benign
NM_000162.5(GCK):c.995C>T (p.Thr332Met) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463843] Chr7:44146487 [GRCh38]
Chr7:44186086 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.1020-10C>T single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463845] Chr7:44145740 [GRCh38]
Chr7:44185339 [GRCh37]
Chr7:7p13
likely benign
NM_000162.5(GCK):c.386G>T (p.Cys129Phe) single nucleotide variant not provided [RCV002475239] Chr7:44151053 [GRCh38]
Chr7:44190652 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.1253+1G>C single nucleotide variant Maturity onset diabetes mellitus in young [RCV002416667] Chr7:44145496 [GRCh38]
Chr7:44185095 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.397T>G (p.Phe133Val) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV002466914] Chr7:44151042 [GRCh38]
Chr7:44190641 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.609_610del (p.Val203_Asn204insTer) deletion not provided [RCV002474164] Chr7:44149829..44149830 [GRCh38]
Chr7:44189428..44189429 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.183C>T (p.Tyr61=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464668]|not provided [RCV003103169] Chr7:44153326 [GRCh38]
Chr7:44192925 [GRCh37]
Chr7:7p13
benign|likely benign
NM_000162.5(GCK):c.98T>G (p.Val33Gly) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464672] Chr7:44153411 [GRCh38]
Chr7:44193010 [GRCh37]
Chr7:7p13
likely risk allele
NM_000162.5(GCK):c.234C>A (p.Asp78Glu) single nucleotide variant not provided [RCV002475241] Chr7:44152400 [GRCh38]
Chr7:44191999 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.792C>T (p.Gly264=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463833] Chr7:44147721 [GRCh38]
Chr7:44187320 [GRCh37]
Chr7:7p13
benign
NM_000162.5(GCK):c.332C>T (p.Pro111Leu) single nucleotide variant not provided [RCV002475233] Chr7:44152302 [GRCh38]
Chr7:44191901 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.524G>T (p.Gly175Val) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002344350] Chr7:44150024 [GRCh38]
Chr7:44189623 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.946T>G (p.Phe316Val) single nucleotide variant not provided [RCV002475235] Chr7:44146536 [GRCh38]
Chr7:44186135 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.167A>C (p.Lys56Thr) single nucleotide variant not provided [RCV002475236]|not specified [RCV003479431] Chr7:44153342 [GRCh38]
Chr7:44192941 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain significance
NM_000162.5(GCK):c.707A>T (p.Glu236Val) single nucleotide variant not provided [RCV002475238] Chr7:44147806 [GRCh38]
Chr7:44187405 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.615C>A (p.Asp205Glu) single nucleotide variant not provided [RCV002475240] Chr7:44149824 [GRCh38]
Chr7:44189423 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.85G>T (p.Asp29Tyr) single nucleotide variant not provided [RCV002475242] Chr7:44153424 [GRCh38]
Chr7:44193023 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.1242G>T (p.Lys414Asn) single nucleotide variant not provided [RCV002475243] Chr7:44145508 [GRCh38]
Chr7:44185107 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.1220G>A (p.Gly407Asp) single nucleotide variant not provided [RCV002475244] Chr7:44145530 [GRCh38]
Chr7:44185129 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.710A>T (p.Glu237Val) single nucleotide variant not provided [RCV002475245] Chr7:44147803 [GRCh38]
Chr7:44187402 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.680-15C>T single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463872] Chr7:44147848 [GRCh38]
Chr7:44187447 [GRCh37]
Chr7:7p13
benign
NM_000162.5(GCK):c.904G>T (p.Val302Leu) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463873] Chr7:44146578 [GRCh38]
Chr7:44186177 [GRCh37]
Chr7:7p13
uncertain risk allele
NM_000162.5(GCK):c.46-5907_46-5906dup duplication Maturity onset diabetes mellitus in young [RCV002463975] Chr7:44159368..44159369 [GRCh38]
Chr7:44198967..44198968 [GRCh37]
Chr7:7p13
likely benign
NM_000162.5(GCK):c.1072C>T (p.Arg358Ter) single nucleotide variant not provided [RCV002467217] Chr7:44145678 [GRCh38]
Chr7:44185277 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.-449G>T single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463831] Chr7:44189402 [GRCh38]
Chr7:44229001 [GRCh37]
Chr7:7p13
benign
NM_000162.5(GCK):c.1253+2T>G single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463832] Chr7:44145495 [GRCh38]
Chr7:44185094 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.1229G>T (p.Gly410Val) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463834] Chr7:44145521 [GRCh38]
Chr7:44185120 [GRCh37]
Chr7:7p13
likely risk allele
NM_000162.5(GCK):c.1019+16G>T single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463844] Chr7:44146447 [GRCh38]
Chr7:44186046 [GRCh37]
Chr7:7p13
benign
NM_000162.5(GCK):c.540T>C (p.Asn180=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002463990] Chr7:44150008 [GRCh38]
Chr7:44189607 [GRCh37]
Chr7:7p13
benign
NM_000162.5(GCK):c.1161G>C (p.Ala387=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002357835] Chr7:44145589 [GRCh38]
Chr7:44185188 [GRCh37]
Chr7:7p13
likely benign
NM_000162.5(GCK):c.1141_1142del (p.Met381fs) deletion Maturity onset diabetes mellitus in young [RCV002456979] Chr7:44145608..44145609 [GRCh38]
Chr7:44185207..44185208 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.766G>T (p.Glu256Ter) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002400446]|not provided [RCV003099711] Chr7:44147747 [GRCh38]
Chr7:44187346 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.628A>G (p.Met210Val) single nucleotide variant Monogenic diabetes [RCV003234754] Chr7:44149811 [GRCh38]
Chr7:44189410 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.363+2T>A single nucleotide variant Monogenic diabetes [RCV003234755] Chr7:44152269 [GRCh38]
Chr7:44191868 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.756C>T (p.Cys252=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002394077] Chr7:44147757 [GRCh38]
Chr7:44187356 [GRCh37]
Chr7:7p13
likely benign
NM_000162.5(GCK):c.830T>A (p.Val277Glu) single nucleotide variant not provided [RCV002305212] Chr7:44147683 [GRCh38]
Chr7:44187282 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.579+1G>A single nucleotide variant Maturity onset diabetes mellitus in young [RCV002359763] Chr7:44149968 [GRCh38]
Chr7:44189567 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.580-1G>C single nucleotide variant Maturity onset diabetes mellitus in young [RCV002359893] Chr7:44149860 [GRCh38]
Chr7:44189459 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.1007C>A (p.Ser336Ter) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002432802] Chr7:44146475 [GRCh38]
Chr7:44186074 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.478G>C (p.Asp160His) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002330710] Chr7:44150961 [GRCh38]
Chr7:44190560 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.360G>A (p.Glu120=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002455324] Chr7:44152274 [GRCh38]
Chr7:44191873 [GRCh37]
Chr7:7p13
likely benign
NM_000162.5(GCK):c.447C>T (p.Thr149=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002328539] Chr7:44150992 [GRCh38]
Chr7:44190591 [GRCh37]
Chr7:7p13
likely benign
NM_000162.5(GCK):c.1182C>T (p.Arg394=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002335303] Chr7:44145568 [GRCh38]
Chr7:44185167 [GRCh37]
Chr7:7p13
likely benign
NM_000162.5(GCK):c.245C>T (p.Thr82Ile) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV002308507] Chr7:44152389 [GRCh38]
Chr7:44191988 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.483+1G>A single nucleotide variant Maturity onset diabetes mellitus in young [RCV002338076] Chr7:44150955 [GRCh38]
Chr7:44190554 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.1129C>A (p.Arg377Ser) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002325992]|Monogenic diabetes [RCV003330331]|not provided [RCV003102308] Chr7:44145621 [GRCh38]
Chr7:44185220 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain significance
NM_000162.5(GCK):c.556C>A (p.Arg186=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002352038] Chr7:44149992 [GRCh38]
Chr7:44189591 [GRCh37]
Chr7:7p13
likely benign
NM_000162.5(GCK):c.1086C>T (p.Thr362=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002425816] Chr7:44145664 [GRCh38]
Chr7:44185263 [GRCh37]
Chr7:7p13
likely benign
NM_000162.5(GCK):c.1288C>G (p.Leu430Val) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002383233] Chr7:44145246 [GRCh38]
Chr7:44184845 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.455T>C (p.Phe152Ser) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002340196] Chr7:44150984 [GRCh38]
Chr7:44190583 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.568A>T (p.Lys190Ter) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002347463] Chr7:44149980 [GRCh38]
Chr7:44189579 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.1260G>T (p.Lys420Asn) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002434767] Chr7:44145274 [GRCh38]
Chr7:44184873 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.656del (p.Gln219fs) deletion Maturity onset diabetes mellitus in young [RCV002364444] Chr7:44149783 [GRCh38]
Chr7:44189382 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.535A>G (p.Asn179Asp) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002347008] Chr7:44150013 [GRCh38]
Chr7:44189612 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.731T>G (p.Val244Gly) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002380111] Chr7:44147782 [GRCh38]
Chr7:44187381 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.1156del (p.Leu386fs) deletion Maturity onset diabetes mellitus in young [RCV002355448]|not provided [RCV003094397] Chr7:44145594 [GRCh38]
Chr7:44185193 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.695C>A (p.Ala232Asp) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002362470] Chr7:44147818 [GRCh38]
Chr7:44187417 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.1137G>A (p.Ala379=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002326332]|not provided [RCV003099390] Chr7:44145613 [GRCh38]
Chr7:44185212 [GRCh37]
Chr7:7p13
likely benign
NM_000162.5(GCK):c.731T>A (p.Val244Glu) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002380105]|not provided [RCV003098539] Chr7:44147782 [GRCh38]
Chr7:44187381 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain significance
NM_000162.5(GCK):c.982G>T (p.Gly328Ter) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002376867]|Monogenic diabetes [RCV003235717] Chr7:44146500 [GRCh38]
Chr7:44186099 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.524G>A (p.Gly175Glu) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002340943] Chr7:44150024 [GRCh38]
Chr7:44189623 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain significance
NM_000162.5(GCK):c.1295_1297delinsGCCG (p.Pro432fs) indel Maturity onset diabetes mellitus in young [RCV002380620]|Monogenic diabetes [RCV003330332] Chr7:44145237..44145239 [GRCh38]
Chr7:44184836..44184838 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.525A>G (p.Gly175=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002340990] Chr7:44150023 [GRCh38]
Chr7:44189622 [GRCh37]
Chr7:7p13
likely benign
NM_000162.5(GCK):c.445dup (p.Thr149fs) duplication Maturity onset diabetes mellitus in young [RCV002328413] Chr7:44150993..44150994 [GRCh38]
Chr7:44190592..44190593 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.871A>C (p.Lys291Gln) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002449739] Chr7:44146611 [GRCh38]
Chr7:44186210 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.151G>T (p.Glu51Ter) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002392406] Chr7:44153358 [GRCh38]
Chr7:44192957 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.1077del (p.Ser360fs) deletion Maturity onset diabetes mellitus in young [RCV002421967] Chr7:44145673 [GRCh38]
Chr7:44185272 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.1348G>T (p.Ala450Ser) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002387880] Chr7:44145186 [GRCh38]
Chr7:44184785 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.1389G>A (p.Leu463=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002396615] Chr7:44145145 [GRCh38]
Chr7:44184744 [GRCh37]
Chr7:7p13
likely benign
NM_000162.5(GCK):c.1180C>T (p.Arg394Cys) single nucleotide variant not provided [RCV002681549] Chr7:44145570 [GRCh38]
Chr7:44185169 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.1184A>G (p.Glu395Gly) single nucleotide variant not provided [RCV002750992] Chr7:44145566 [GRCh38]
Chr7:44185165 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.1234G>C (p.Val412Leu) single nucleotide variant not provided [RCV002512334] Chr7:44145516 [GRCh38]
Chr7:44185115 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.1265G>T (p.Arg422Leu) single nucleotide variant GCK-related condition [RCV003418533]|not provided [RCV002462481] Chr7:44145269 [GRCh38]
Chr7:44184868 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.468del (p.His156fs) deletion not provided [RCV002616917] Chr7:44150971 [GRCh38]
Chr7:44190570 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.46-3C>T single nucleotide variant not provided [RCV002819275] Chr7:44153466 [GRCh38]
Chr7:44193065 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.852C>G (p.Pro284=) single nucleotide variant not provided [RCV002638991] Chr7:44147661 [GRCh38]
Chr7:44187260 [GRCh37]
Chr7:7p13
likely benign|conflicting interpretations of pathogenicity
NM_000162.5(GCK):c.1253+9G>A single nucleotide variant not provided [RCV003017906] Chr7:44145488 [GRCh38]
Chr7:44185087 [GRCh37]
Chr7:7p13
likely benign
NM_000162.5(GCK):c.1254-26G>A single nucleotide variant not provided [RCV002569787] Chr7:44145306 [GRCh38]
Chr7:44184905 [GRCh37]
Chr7:7p13
likely benign
NM_000162.5(GCK):c.756C>G (p.Cys252Trp) single nucleotide variant not provided [RCV003100637] Chr7:44147757 [GRCh38]
Chr7:44187356 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.146C>G (p.Thr49Ser) single nucleotide variant not provided [RCV003018951] Chr7:44153363 [GRCh38]
Chr7:44192962 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.613G>T (p.Asp205Tyr) single nucleotide variant not provided [RCV003037218] Chr7:44149826 [GRCh38]
Chr7:44189425 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain significance
NM_000162.5(GCK):c.308C>G (p.Thr103Ser) single nucleotide variant not provided [RCV003037223] Chr7:44152326 [GRCh38]
Chr7:44191925 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.45G>A (p.Lys15=) single nucleotide variant Monogenic diabetes [RCV003234596]|not provided [RCV003037225]|not specified [RCV003388145] Chr7:44188909 [GRCh38]
Chr7:44228508 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.1315_1322del (p.Ile439fs) deletion not provided [RCV002885182] Chr7:44145212..44145219 [GRCh38]
Chr7:44184811..44184818 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.657G>A (p.Gln219=) single nucleotide variant not provided [RCV002885350] Chr7:44149782 [GRCh38]
Chr7:44189381 [GRCh37]
Chr7:7p13
likely benign
NM_000162.5(GCK):c.44A>G (p.Lys15Arg) single nucleotide variant not provided [RCV003035762] Chr7:44188910 [GRCh38]
Chr7:44228509 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.1151C>A (p.Ala384Glu) single nucleotide variant Inborn genetic diseases [RCV003358061]|not provided [RCV003037213] Chr7:44145599 [GRCh38]
Chr7:44185198 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.880G>C (p.Gly294Arg) single nucleotide variant not provided [RCV003019186] Chr7:44146602 [GRCh38]
Chr7:44186201 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.1020-1_1020delinsTT indel not provided [RCV002867585] Chr7:44145730..44145731 [GRCh38]
Chr7:44185329..44185330 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.1093G>A (p.Asp365Asn) single nucleotide variant not provided [RCV003037214] Chr7:44145657 [GRCh38]
Chr7:44185256 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.834C>G (p.Asp278Glu) single nucleotide variant not provided [RCV003037215] Chr7:44147679 [GRCh38]
Chr7:44187278 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.719A>C (p.Asn240Thr) single nucleotide variant not provided [RCV003037216] Chr7:44147794 [GRCh38]
Chr7:44187393 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.598G>C (p.Val200Leu) single nucleotide variant not provided [RCV003037219] Chr7:44149841 [GRCh38]
Chr7:44189440 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.526G>A (p.Ala176Thr) single nucleotide variant not provided [RCV003037220] Chr7:44150022 [GRCh38]
Chr7:44189621 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.451T>C (p.Ser151Pro) single nucleotide variant not provided [RCV003037221] Chr7:44150988 [GRCh38]
Chr7:44190587 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.56T>A (p.Ile19Asn) single nucleotide variant not provided [RCV003037224] Chr7:44153453 [GRCh38]
Chr7:44193052 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.1181G>C (p.Arg394Pro) single nucleotide variant Monogenic diabetes [RCV003318514]|not provided [RCV003084866] Chr7:44145569 [GRCh38]
Chr7:44185168 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.1111T>G (p.Cys371Gly) single nucleotide variant not provided [RCV002933238] Chr7:44145639 [GRCh38]
Chr7:44185238 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.685G>A (p.Gly229Ser) single nucleotide variant not provided [RCV003084868] Chr7:44147828 [GRCh38]
Chr7:44187427 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.568A>G (p.Lys190Glu) single nucleotide variant not provided [RCV003042239] Chr7:44149980 [GRCh38]
Chr7:44189579 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.481A>T (p.Lys161Ter) single nucleotide variant not provided [RCV002954283] Chr7:44150958 [GRCh38]
Chr7:44190557 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.920T>C (p.Leu307Pro) single nucleotide variant not provided [RCV003040639] Chr7:44146562 [GRCh38]
Chr7:44186161 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.255_256del (p.Arg85fs) deletion not provided [RCV003007767] Chr7:44152378..44152379 [GRCh38]
Chr7:44191977..44191978 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.680-19C>T single nucleotide variant not provided [RCV002574111] Chr7:44147852 [GRCh38]
Chr7:44187451 [GRCh37]
Chr7:7p13
likely benign|conflicting interpretations of pathogenicity
NM_000162.5(GCK):c.490del (p.Leu164fs) deletion not provided [RCV002919002] Chr7:44150058 [GRCh38]
Chr7:44189657 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.1254-13C>G single nucleotide variant not provided [RCV002666977] Chr7:44145293 [GRCh38]
Chr7:44184892 [GRCh37]
Chr7:7p13
likely benign
NM_000162.5(GCK):c.1153G>C (p.Gly385Arg) single nucleotide variant not provided [RCV002958450] Chr7:44145597 [GRCh38]
Chr7:44185196 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.465G>A (p.Arg155=) single nucleotide variant not provided [RCV002985748] Chr7:44150974 [GRCh38]
Chr7:44190573 [GRCh37]
Chr7:7p13
likely benign
NM_000162.5(GCK):c.1201G>A (p.Val401Ile) single nucleotide variant not provided [RCV003049053] Chr7:44145549 [GRCh38]
Chr7:44185148 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.1020-16T>A single nucleotide variant not provided [RCV002938613] Chr7:44145746 [GRCh38]
Chr7:44185345 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.715C>T (p.Gln239Ter) single nucleotide variant not provided [RCV003060101] Chr7:44147798 [GRCh38]
Chr7:44187397 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.410A>G (p.His137Arg) single nucleotide variant not provided [RCV003060108] Chr7:44151029 [GRCh38]
Chr7:44190628 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.46-1G>A single nucleotide variant not provided [RCV003060110] Chr7:44153464 [GRCh38]
Chr7:44193063 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.1232C>T (p.Ser411Phe) single nucleotide variant not provided [RCV003060097] Chr7:44145518 [GRCh38]
Chr7:44185117 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.1359G>T (p.Ser453=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV003167563]|not provided [RCV002646514] Chr7:44145175 [GRCh38]
Chr7:44184774 [GRCh37]
Chr7:7p13
likely benign
NM_000162.5(GCK):c.314A>G (p.His105Arg) single nucleotide variant not provided [RCV003009988] Chr7:44152320 [GRCh38]
Chr7:44191919 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.852C>T (p.Pro284=) single nucleotide variant not provided [RCV002770483] Chr7:44147661 [GRCh38]
Chr7:44187260 [GRCh37]
Chr7:7p13
likely benign
NM_000162.5(GCK):c.1195G>T (p.Glu399Ter) single nucleotide variant not provided [RCV003060098] Chr7:44145555 [GRCh38]
Chr7:44185154 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.668G>T (p.Gly223Val) single nucleotide variant not provided [RCV003060105] Chr7:44149771 [GRCh38]
Chr7:44189370 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.638G>A (p.Cys213Tyr) single nucleotide variant not provided [RCV003060106] Chr7:44149801 [GRCh38]
Chr7:44189400 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.679G>A (p.Gly227Ser) single nucleotide variant Maturity onset diabetes mellitus in young [RCV003329455]|not provided [RCV003060103] Chr7:44149760 [GRCh38]
Chr7:44189359 [GRCh37]
Chr7:7p13
pathogenic|uncertain significance
NM_000162.5(GCK):c.1253+2T>C single nucleotide variant not provided [RCV003027068] Chr7:44145495 [GRCh38]
Chr7:44185094 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.851C>T (p.Pro284Leu) single nucleotide variant not provided [RCV003031070] Chr7:44147662 [GRCh38]
Chr7:44187261 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.1186_1187dup (p.Ser396fs) microsatellite not provided [RCV002604226] Chr7:44145562..44145563 [GRCh38]
Chr7:44185161..44185162 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.264G>A (p.Leu88=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV003161878]|not provided [RCV002582354] Chr7:44152370 [GRCh38]
Chr7:44191969 [GRCh37]
Chr7:7p13
likely benign
NM_000162.5(GCK):c.1079C>G (p.Ser360Trp) single nucleotide variant not provided [RCV002635959] Chr7:44145671 [GRCh38]
Chr7:44185270 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.3(GCK):c.-1460G>A single nucleotide variant not provided [RCV003135343] Chr7:44190413 [GRCh38]
Chr7:44230012 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.1189C>G (p.Arg397Gly) single nucleotide variant Monogenic diabetes [RCV003326085] Chr7:44145561 [GRCh38]
Chr7:44185160 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain significance
NM_000162.5(GCK):c.232G>T (p.Asp78Tyr) single nucleotide variant Type 2 diabetes mellitus [RCV003224686] Chr7:44152402 [GRCh38]
Chr7:44192001 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.562G>C (p.Ala188Pro) single nucleotide variant not provided [RCV003228508] Chr7:44149986 [GRCh38]
Chr7:44189585 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.122_123insAGGAGATG (p.Met41fs) insertion Type 2 diabetes mellitus [RCV003224852] Chr7:44153386..44153387 [GRCh38]
Chr7:44192985..44192986 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.318G>C (p.Gln106His) single nucleotide variant not provided [RCV003227332] Chr7:44152316 [GRCh38]
Chr7:44191915 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.1213A>G (p.Thr405Ala) single nucleotide variant not provided [RCV003135342] Chr7:44145537 [GRCh38]
Chr7:44185136 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.458C>A (p.Pro153His) single nucleotide variant Maturity onset diabetes mellitus in young [RCV003283408] Chr7:44150981 [GRCh38]
Chr7:44190580 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.579+4del deletion Maturity onset diabetes mellitus in young [RCV003329474]|Maturity-onset diabetes of the young type 2 [RCV003142422] Chr7:44149965 [GRCh38]
Chr7:44189564 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain significance
NM_000162.5(GCK):c.12_13del (p.Asp4fs) deletion not provided [RCV003145824] Chr7:44188941..44188942 [GRCh38]
Chr7:44228540..44228541 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.921C>G (p.Leu307=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV003221248] Chr7:44146561 [GRCh38]
Chr7:44186160 [GRCh37]
Chr7:7p13
likely benign
NM_000162.5(GCK):c.360G>C (p.Glu120Asp) single nucleotide variant Type 2 diabetes mellitus [RCV003228693] Chr7:44152274 [GRCh38]
Chr7:44191873 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.317A>C (p.Gln106Pro) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV003323266] Chr7:44152317 [GRCh38]
Chr7:44191916 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.1142T>C (p.Met381Thr) single nucleotide variant Monogenic diabetes [RCV003318528] Chr7:44145608 [GRCh38]
Chr7:44185207 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.502A>C (p.Thr168Pro) single nucleotide variant Monogenic diabetes [RCV003318523] Chr7:44150046 [GRCh38]
Chr7:44189645 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.1373_1376del (p.Lys458fs) deletion Monogenic diabetes [RCV003318524] Chr7:44145158..44145161 [GRCh38]
Chr7:44184757..44184760 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.1254-1G>C single nucleotide variant Monogenic diabetes [RCV003318525] Chr7:44145281 [GRCh38]
Chr7:44184880 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.1175G>C (p.Arg392Pro) single nucleotide variant Monogenic diabetes [RCV003318527] Chr7:44145575 [GRCh38]
Chr7:44185174 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.1331dup (p.Ser445fs) duplication Monogenic diabetes [RCV003318526] Chr7:44145202..44145203 [GRCh38]
Chr7:44184801..44184802 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.1121T>A (p.Val374Glu) single nucleotide variant Monogenic diabetes [RCV003326074] Chr7:44145629 [GRCh38]
Chr7:44185228 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.775G>T (p.Ala259Ser) single nucleotide variant Monogenic diabetes [RCV003326080] Chr7:44147738 [GRCh38]
Chr7:44187337 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.1111T>C (p.Cys371Arg) single nucleotide variant Monogenic diabetes [RCV003326088] Chr7:44145639 [GRCh38]
Chr7:44185238 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.1396T>C (p.Ter466Arg) single nucleotide variant Monogenic diabetes [RCV003326077] Chr7:44145138 [GRCh38]
Chr7:44184737 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.613G>C (p.Asp205His) single nucleotide variant not provided [RCV003327892] Chr7:44149826 [GRCh38]
Chr7:44189425 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.898G>C (p.Glu300Gln) single nucleotide variant Monogenic diabetes [RCV003326075] Chr7:44146584 [GRCh38]
Chr7:44186183 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.1398A>G (p.Ter466Trp) single nucleotide variant Monogenic diabetes [RCV003326076] Chr7:44145136 [GRCh38]
Chr7:44184735 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.884G>T (p.Gly295Val) single nucleotide variant Monogenic diabetes [RCV003326078] Chr7:44146598 [GRCh38]
Chr7:44186197 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.782G>A (p.Gly261Glu) single nucleotide variant Monogenic diabetes [RCV003326079] Chr7:44147731 [GRCh38]
Chr7:44187330 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.437T>G (p.Leu146Arg) single nucleotide variant Monogenic diabetes [RCV003326081] Chr7:44151002 [GRCh38]
Chr7:44190601 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.110T>G (p.Met37Arg) single nucleotide variant Monogenic diabetes [RCV003326083] Chr7:44153399 [GRCh38]
Chr7:44192998 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.1363dup (p.Val455fs) duplication Monogenic diabetes [RCV003326086] Chr7:44145170..44145171 [GRCh38]
Chr7:44184769..44184770 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.502A>G (p.Thr168Ala) single nucleotide variant Monogenic diabetes [RCV003318522] Chr7:44150046 [GRCh38]
Chr7:44189645 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.580-3C>A single nucleotide variant Maturity onset diabetes mellitus in young [RCV003330051]|Maturity-onset diabetes of the young type 2 [RCV003447654] Chr7:44149862 [GRCh38]
Chr7:44189461 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.580-3del deletion Maturity onset diabetes mellitus in young [RCV003330052] Chr7:44149862 [GRCh38]
Chr7:44189461 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.208G>C (p.Glu70Gln) single nucleotide variant Maturity onset diabetes mellitus in young [RCV003330064] Chr7:44153301 [GRCh38]
Chr7:44192900 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.680-6C>G single nucleotide variant Maturity onset diabetes mellitus in young [RCV003330056] Chr7:44147839 [GRCh38]
Chr7:44187438 [GRCh37]
Chr7:7p13
pathogenic
NC_000007.14:g.44189508G>A single nucleotide variant not provided [RCV003329011] Chr7:44189508 [GRCh38]
Chr7:44229107 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.580-9T>G single nucleotide variant Maturity onset diabetes mellitus in young [RCV003330050] Chr7:44149868 [GRCh38]
Chr7:44189467 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.679G>C (p.Gly227Arg) single nucleotide variant Maturity onset diabetes mellitus in young [RCV003330054] Chr7:44149760 [GRCh38]
Chr7:44189359 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.1019+20G>A single nucleotide variant Maturity onset diabetes mellitus in young [RCV003330059] Chr7:44146443 [GRCh38]
Chr7:44186042 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.1190_1253+11dup duplication Maturity onset diabetes mellitus in young [RCV003330060] Chr7:44145485..44145486 [GRCh38]
Chr7:44185084..44185085 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.679+5G>A single nucleotide variant Maturity onset diabetes mellitus in young [RCV003330055] Chr7:44149755 [GRCh38]
Chr7:44189354 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.208+15C>G single nucleotide variant Maturity onset diabetes mellitus in young [RCV003330071] Chr7:44153286 [GRCh38]
Chr7:44192885 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.356C>G (p.Ala119Gly) single nucleotide variant Maturity onset diabetes mellitus in young [RCV003330072] Chr7:44152278 [GRCh38]
Chr7:44191877 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.677T>G (p.Val226Gly) single nucleotide variant Maturity onset diabetes mellitus in young [RCV003330053] Chr7:44149762 [GRCh38]
Chr7:44189361 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.863+5G>A single nucleotide variant Maturity onset diabetes mellitus in young [RCV003330057] Chr7:44147645 [GRCh38]
Chr7:44187244 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.484-11_484-6del deletion Maturity onset diabetes mellitus in young [RCV003330074] Chr7:44150070..44150075 [GRCh38]
Chr7:44189669..44189674 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.484G>A (p.Gly162Ser) single nucleotide variant Maturity onset diabetes mellitus in young [RCV003330075] Chr7:44150064 [GRCh38]
Chr7:44189663 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.667G>C (p.Gly223Arg) single nucleotide variant not provided [RCV003325674] Chr7:44149772 [GRCh38]
Chr7:44189371 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.1019G>C (p.Ser340Thr) single nucleotide variant Maturity onset diabetes mellitus in young [RCV003330058] Chr7:44146463 [GRCh38]
Chr7:44186062 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.482A>G (p.Lys161Arg) single nucleotide variant Maturity onset diabetes mellitus in young [RCV003330073] Chr7:44150957 [GRCh38]
Chr7:44190556 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.950A>C (p.His317Pro) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV003333829] Chr7:44146532 [GRCh38]
Chr7:44186131 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.1240A>T (p.Lys414Ter) single nucleotide variant Monogenic diabetes [RCV003330370] Chr7:44145510 [GRCh38]
Chr7:44185109 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.1322C>A (p.Ser441Ter) single nucleotide variant Monogenic diabetes [RCV003330366] Chr7:44145212 [GRCh38]
Chr7:44184811 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.1144T>G (p.Cys382Gly) single nucleotide variant Monogenic diabetes [RCV003330367] Chr7:44145606 [GRCh38]
Chr7:44185205 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.1174C>A (p.Arg392Ser) single nucleotide variant Monogenic diabetes [RCV003331710] Chr7:44145576 [GRCh38]
Chr7:44185175 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.323A>G (p.Tyr108Cys) single nucleotide variant Monogenic diabetes [RCV003445233]|not specified [RCV003331711] Chr7:44152311 [GRCh38]
Chr7:44191910 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.1012G>A (p.Val338Met) single nucleotide variant not specified [RCV003331580] Chr7:44146470 [GRCh38]
Chr7:44186069 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.1133C>A (p.Ala378Asp) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV003445468]|Monogenic diabetes [RCV003479526] Chr7:44145617 [GRCh38]
Chr7:44185216 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.461T>G (p.Val154Gly) single nucleotide variant Monogenic diabetes [RCV003481517] Chr7:44150978 [GRCh38]
Chr7:44190577 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.1083dup (p.Thr362fs) duplication not provided [RCV003482697] Chr7:44145666..44145667 [GRCh38]
Chr7:44185265..44185266 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.343A>G (p.Met115Val) single nucleotide variant not provided [RCV003482701] Chr7:44152291 [GRCh38]
Chr7:44191890 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.1331G>A (p.Gly444Asp) single nucleotide variant Monogenic diabetes [RCV003445457]|not specified [RCV003479521] Chr7:44145203 [GRCh38]
Chr7:44184802 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.823C>G (p.Arg275Gly) single nucleotide variant Monogenic diabetes [RCV003445463]|not specified [RCV003479524] Chr7:44147690 [GRCh38]
Chr7:44187289 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain significance
NM_000162.5(GCK):c.797T>C (p.Leu266Pro) single nucleotide variant Monogenic diabetes [RCV003445465] Chr7:44147716 [GRCh38]
Chr7:44187315 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.1298_1309del (p.Ser433_Ile436del) deletion Monogenic diabetes [RCV003445461]|not specified [RCV003479522] Chr7:44145225..44145236 [GRCh38]
Chr7:44184824..44184835 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain significance
NM_000162.5(GCK):c.503C>A (p.Thr168Asn) single nucleotide variant Monogenic diabetes [RCV003481516] Chr7:44150045 [GRCh38]
Chr7:44189644 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.110T>C (p.Met37Thr) single nucleotide variant Monogenic diabetes [RCV003481518] Chr7:44153399 [GRCh38]
Chr7:44192998 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.3G>A (p.Met1Ile) single nucleotide variant Monogenic diabetes [RCV003481519] Chr7:44188951 [GRCh38]
Chr7:44228550 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.324C>A (p.Tyr108Ter) single nucleotide variant Monogenic diabetes [RCV003481520] Chr7:44152310 [GRCh38]
Chr7:44191909 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.170T>A (p.Met57Lys) single nucleotide variant not provided [RCV003482698] Chr7:44153339 [GRCh38]
Chr7:44192938 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.557G>A (p.Arg186Gln) single nucleotide variant not provided [RCV003482704] Chr7:44149991 [GRCh38]
Chr7:44189590 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.924del (p.Arg308fs) deletion Monogenic diabetes [RCV003388393] Chr7:44146558 [GRCh38]
Chr7:44186157 [GRCh37]
Chr7:7p13
pathogenic
NC_000007.14:g.44153459_44153467del deletion not provided [RCV003482703] Chr7:44153455..44153463 [GRCh38]
Chr7:44193054..44193062 [GRCh37]
Chr7:7p13
uncertain significance
GRCh37/hg19 7p14.1-12.3(chr7:42516660-46202495)x1 copy number loss not provided [RCV003482956] Chr7:42516660..46202495 [GRCh37]
Chr7:7p14.1-12.3
pathogenic
NM_000162.5(GCK):c.1030_1039del (p.Asp344fs) deletion Monogenic diabetes [RCV003479790] Chr7:44145711..44145720 [GRCh38]
Chr7:44185310..44185319 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.109A>G (p.Met37Val) single nucleotide variant Monogenic diabetes [RCV003445456] Chr7:44153400 [GRCh38]
Chr7:44192999 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.632T>C (p.Ile211Thr) single nucleotide variant not provided [RCV003482705] Chr7:44149807 [GRCh38]
Chr7:44189406 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.666C>A (p.Val222=) single nucleotide variant not provided [RCV003482706] Chr7:44149773 [GRCh38]
Chr7:44189372 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.192C>T (p.Ser64=) single nucleotide variant not provided [RCV003433782] Chr7:44153317 [GRCh38]
Chr7:44192916 [GRCh37]
Chr7:7p13
likely benign
NM_000162.5(GCK):c.350G>T (p.Gly117Val) single nucleotide variant Monogenic diabetes [RCV003445236]|not provided [RCV003441593]|not specified [RCV003479519] Chr7:44152284 [GRCh38]
Chr7:44191883 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain significance
NM_000162.5(GCK):c.219C>G (p.Asp73Glu) single nucleotide variant GCK-related condition [RCV003394466] Chr7:44152415 [GRCh38]
Chr7:44192014 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.227C>A (p.Ser76Tyr) single nucleotide variant not provided [RCV003482699] Chr7:44152407 [GRCh38]
Chr7:44192006 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.28G>A (p.Ala10Thr) single nucleotide variant not provided [RCV003482700] Chr7:44188926 [GRCh38]
Chr7:44228525 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.679+3A>C single nucleotide variant not provided [RCV003482707] Chr7:44149757 [GRCh38]
Chr7:44189356 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.741C>G (p.Asp247Glu) single nucleotide variant not provided [RCV003482708] Chr7:44147772 [GRCh38]
Chr7:44187371 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.964G>T (p.Glu322Ter) single nucleotide variant not provided [RCV003482709] Chr7:44146518 [GRCh38]
Chr7:44186117 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.465G>T (p.Arg155Ser) single nucleotide variant Monogenic diabetes [RCV003397219] Chr7:44150974 [GRCh38]
Chr7:44190573 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.1132G>C (p.Ala378Pro) single nucleotide variant Monogenic diabetes [RCV003397220] Chr7:44145618 [GRCh38]
Chr7:44185217 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.689G>A (p.Cys230Tyr) single nucleotide variant Monogenic diabetes [RCV003397221] Chr7:44147824 [GRCh38]
Chr7:44187423 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.1019+1G>T single nucleotide variant Monogenic diabetes [RCV003445459] Chr7:44146462 [GRCh38]
Chr7:44186061 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.1019+5G>A single nucleotide variant Monogenic diabetes [RCV003445460] Chr7:44146458 [GRCh38]
Chr7:44186057 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.3(GCK):c.-557G>C single nucleotide variant GCK-related condition [RCV003392982] Chr7:44189510 [GRCh38]
Chr7:44229109 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_000162.5(GCK):c.1305dup (p.Ile436fs) duplication Maturity-onset diabetes of the young type 2 [RCV003397215] Chr7:44145228..44145229 [GRCh38]
Chr7:44184827..44184828 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.1014G>A (p.Val338=) single nucleotide variant GCK-related condition [RCV003408321] Chr7:44146468 [GRCh38]
Chr7:44186067 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.373T>A (p.Tyr125Asn) single nucleotide variant GCK-related condition [RCV003400047] Chr7:44151066 [GRCh38]
Chr7:44190665 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.364-1G>C single nucleotide variant GCK-related condition [RCV003400068] Chr7:44151076 [GRCh38]
Chr7:44190675 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.679+1G>C single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV003388272] Chr7:44149759 [GRCh38]
Chr7:44189358 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.1297_1300dup (p.Cys434Ter) duplication Maturity-onset diabetes of the young type 2 [RCV003397216] Chr7:44145233..44145234 [GRCh38]
Chr7:44184832..44184833 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.1254-2A>G single nucleotide variant Monogenic diabetes [RCV003397217] Chr7:44145282 [GRCh38]
Chr7:44184881 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.443T>C (p.Phe148Ser) single nucleotide variant Monogenic diabetes [RCV003397218] Chr7:44150996 [GRCh38]
Chr7:44190595 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.46-4647C>A single nucleotide variant GCK-related condition [RCV003412371] Chr7:44158110 [GRCh38]
Chr7:44197709 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.554T>C (p.Leu185Pro) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV003447825] Chr7:44149994 [GRCh38]
Chr7:44189593 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.1106G>C (p.Arg369Pro) single nucleotide variant GCK-related condition [RCV003416862] Chr7:44145644 [GRCh38]
Chr7:44185243 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.565A>G (p.Ile189Val) single nucleotide variant Monogenic diabetes [RCV003445466]|not specified [RCV003479525] Chr7:44149983 [GRCh38]
Chr7:44189582 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.529_536del (p.Glu177fs) deletion not provided [RCV003441624] Chr7:44150012..44150019 [GRCh38]
Chr7:44189611..44189618 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.53del (p.Gln18fs) deletion Monogenic diabetes [RCV003388354] Chr7:44153456 [GRCh38]
Chr7:44193055 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.859C>G (p.Gln287Glu) single nucleotide variant GCK-related condition [RCV003408314] Chr7:44147654 [GRCh38]
Chr7:44187253 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.1019+1G>A single nucleotide variant Monogenic diabetes [RCV003445458] Chr7:44146462 [GRCh38]
Chr7:44186061 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.567C>G (p.Ile189Met) single nucleotide variant Monogenic diabetes [RCV003445462]|not specified [RCV003479523] Chr7:44149981 [GRCh38]
Chr7:44189580 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain significance
NM_000162.5(GCK):c.976A>C (p.Thr326Pro) single nucleotide variant Monogenic diabetes [RCV003445464] Chr7:44146506 [GRCh38]
Chr7:44186105 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.797T>A (p.Leu266Gln) single nucleotide variant Monogenic diabetes [RCV003445467] Chr7:44147716 [GRCh38]
Chr7:44187315 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.1358C>A (p.Ser453Ter) single nucleotide variant Monogenic diabetes [RCV003883452] Chr7:44145176 [GRCh38]
Chr7:44184775 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.683C>G (p.Thr228Arg) single nucleotide variant Monogenic diabetes [RCV003883456] Chr7:44147830 [GRCh38]
Chr7:44187429 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.389T>A (p.Ile130Asn) single nucleotide variant Monogenic diabetes [RCV003883458] Chr7:44151050 [GRCh38]
Chr7:44190649 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.1159G>A (p.Ala387Thr) single nucleotide variant Monogenic diabetes [RCV003883453] Chr7:44145591 [GRCh38]
Chr7:44185190 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.1148C>G (p.Ser383Trp) single nucleotide variant Monogenic diabetes [RCV003883454] Chr7:44145602 [GRCh38]
Chr7:44185201 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.1147T>A (p.Ser383Thr) single nucleotide variant Monogenic diabetes [RCV003883455] Chr7:44145603 [GRCh38]
Chr7:44185202 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.1398A>T (p.Ter466Cys) single nucleotide variant Monogenic diabetes [RCV003494020] Chr7:44145136 [GRCh38]
Chr7:44184735 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.749G>C (p.Arg250Pro) single nucleotide variant Monogenic diabetes [RCV003494027] Chr7:44147764 [GRCh38]
Chr7:44187363 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.679+3A>T single nucleotide variant Monogenic diabetes [RCV003494028] Chr7:44149757 [GRCh38]
Chr7:44189356 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.676G>C (p.Val226Leu) single nucleotide variant Monogenic diabetes [RCV003494029] Chr7:44149763 [GRCh38]
Chr7:44189362 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.1144del (p.Cys382fs) deletion Monogenic diabetes [RCV003494022] Chr7:44145606 [GRCh38]
Chr7:44185205 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.630G>A (p.Met210Ile) single nucleotide variant Monogenic diabetes [RCV003494023] Chr7:44149809 [GRCh38]
Chr7:44189408 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.521C>T (p.Ser174Leu) single nucleotide variant Monogenic diabetes [RCV003494026] Chr7:44150027 [GRCh38]
Chr7:44189626 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.1004T>A (p.Val335Glu) single nucleotide variant not provided [RCV003547805] Chr7:44146478 [GRCh38]
Chr7:44186077 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.110T>A (p.Met37Lys) single nucleotide variant Monogenic diabetes [RCV003494030] Chr7:44153399 [GRCh38]
Chr7:44192998 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.323A>T (p.Tyr108Phe) single nucleotide variant Monogenic diabetes [RCV003494031] Chr7:44152311 [GRCh38]
Chr7:44191910 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.586G>T (p.Glu196Ter) single nucleotide variant not provided [RCV003716136] Chr7:44149853 [GRCh38]
Chr7:44189452 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.683C>A (p.Thr228Lys) single nucleotide variant Monogenic diabetes [RCV003883457] Chr7:44147830 [GRCh38]
Chr7:44187429 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.523G>C (p.Gly175Arg) single nucleotide variant Monogenic diabetes [RCV003883459] Chr7:44150025 [GRCh38]
Chr7:44189624 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.-429G>A single nucleotide variant Maturity onset diabetes mellitus in young [RCV003577090] Chr7:44189382 [GRCh38]
Chr7:44228981 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.1079C>T (p.Ser360Leu) single nucleotide variant Maturity onset diabetes mellitus in young [RCV003577094] Chr7:44145671 [GRCh38]
Chr7:44185270 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.659G>T (p.Cys220Phe) single nucleotide variant Monogenic diabetes [RCV003494032] Chr7:44149780 [GRCh38]
Chr7:44189379 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.1306A>T (p.Ile436Phe) single nucleotide variant Monogenic diabetes [RCV003494021] Chr7:44145228 [GRCh38]
Chr7:44184827 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.622G>C (p.Ala208Pro) single nucleotide variant Monogenic diabetes [RCV003494024] Chr7:44149817 [GRCh38]
Chr7:44189416 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.1219G>C (p.Gly407Arg) single nucleotide variant not provided [RCV003577301] Chr7:44145531 [GRCh38]
Chr7:44185130 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.113A>T (p.Gln38Leu) single nucleotide variant Monogenic diabetes [RCV003494025] Chr7:44153396 [GRCh38]
Chr7:44192995 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.352A>T (p.Thr118Ser) single nucleotide variant not provided [RCV003715883] Chr7:44152282 [GRCh38]
Chr7:44191881 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.30C>T (p.Ala10=) single nucleotide variant not specified [RCV003489725] Chr7:44188924 [GRCh38]
Chr7:44228523 [GRCh37]
Chr7:7p13
likely benign
NM_000162.5(GCK):c.430C>G (p.Leu144Val) single nucleotide variant not provided [RCV003575875] Chr7:44151009 [GRCh38]
Chr7:44190608 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.379T>G (p.Ser127Ala) single nucleotide variant not provided [RCV003575387] Chr7:44151060 [GRCh38]
Chr7:44190659 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.476T>C (p.Ile159Thr) single nucleotide variant not provided [RCV003547122] Chr7:44150963 [GRCh38]
Chr7:44190562 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.1124C>A (p.Ser375Tyr) single nucleotide variant not provided [RCV003573794] Chr7:44145626 [GRCh38]
Chr7:44185225 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.1254-13C>A single nucleotide variant Monogenic diabetes [RCV003883451] Chr7:44145293 [GRCh38]
Chr7:44184892 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.449_451del (p.Phe150del) deletion Monogenic diabetes [RCV003883460] Chr7:44150988..44150990 [GRCh38]
Chr7:44190587..44190589 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.1189C>T (p.Arg397Cys) single nucleotide variant not provided [RCV003555325] Chr7:44145561 [GRCh38]
Chr7:44185160 [GRCh37]
Chr7:7p13
likely pathogenic|uncertain significance
NM_000162.5(GCK):c.363+19G>A single nucleotide variant not provided [RCV003877582] Chr7:44152252 [GRCh38]
Chr7:44191851 [GRCh37]
Chr7:7p13
benign
NM_000162.5(GCK):c.375C>T (p.Tyr125=) single nucleotide variant not provided [RCV003715881] Chr7:44151064 [GRCh38]
Chr7:44190663 [GRCh37]
Chr7:7p13
likely benign
NM_000162.5(GCK):c.188G>A (p.Arg63His) single nucleotide variant not provided [RCV003665331] Chr7:44153321 [GRCh38]
Chr7:44192920 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.675C>A (p.Ile225=) single nucleotide variant not provided [RCV003697825] Chr7:44149764 [GRCh38]
Chr7:44189363 [GRCh37]
Chr7:7p13
likely benign
NM_000162.5(GCK):c.852dup (p.Gly285fs) duplication not provided [RCV003740618] Chr7:44147660..44147661 [GRCh38]
Chr7:44187259..44187260 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.1327G>A (p.Glu443Lys) single nucleotide variant not provided [RCV003549568] Chr7:44145207 [GRCh38]
Chr7:44184806 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.698_700del (p.Cys233del) deletion not provided [RCV003549749] Chr7:44147813..44147815 [GRCh38]
Chr7:44187412..44187414 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.799G>C (p.Asp267His) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV003634411] Chr7:44147714 [GRCh38]
Chr7:44187313 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.431_432delinsCT (p.Leu144Pro) indel not provided [RCV003740508] Chr7:44151007..44151008 [GRCh38]
Chr7:44190606..44190607 [GRCh37]
Chr7:7p13
uncertain significance
NM_000162.5(GCK):c.432G>T (p.Leu144=) single nucleotide variant not provided [RCV003740627] Chr7:44151007 [GRCh38]
Chr7:44190606 [GRCh37]
Chr7:7p13
likely benign
NM_000162.5(GCK):c.1254-12_1257del deletion Monogenic diabetes [RCV003330371] Chr7:44145277..44145292 [GRCh38]
Chr7:44184876..44184891 [GRCh37]
Chr7:7p13
pathogenic
NM_000162.5(GCK):c.1303_1306dup (p.Ile436fs) microsatellite Maturity-onset diabetes of the young type 2 [RCV003330369] Chr7:44145227..44145228 [GRCh38]
Chr7:44184826..44184827 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000162.5(GCK):c.824G>C (p.Arg275Pro) single nucleotide variant Monogenic diabetes [RCV003330368] Chr7:44147689 [GRCh38]
Chr7:44187288 [GRCh37]
Chr7:7p13
likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3246
Count of miRNA genes:802
Interacting mature miRNAs:948
Transcripts:ENST00000336642, ENST00000345378, ENST00000395796, ENST00000403799, ENST00000437084, ENST00000459642, ENST00000473353, ENST00000476008
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
GDB:191176  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37744,185,012 - 44,185,378UniSTSGRCh37
Build 36744,151,537 - 44,151,903RGDNCBI36
Celera744,282,971 - 44,283,337RGD
Cytogenetic Map7p15.3-p15.1UniSTS
HuRef744,070,283 - 44,070,649UniSTS
CRA_TCAGchr7v2744,224,512 - 44,224,878UniSTS
GCK_7794  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37744,183,712 - 44,184,445UniSTSGRCh37
Build 36744,150,237 - 44,150,970RGDNCBI36
Celera744,281,671 - 44,282,404RGD
HuRef744,068,983 - 44,069,716UniSTS
CRA_TCAGchr7v2744,223,212 - 44,223,945UniSTS
GDB:1317412  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37744,222,668 - 44,222,762UniSTSGRCh37
Build 36744,189,193 - 44,189,287RGDNCBI36
Celera744,320,631 - 44,320,725RGD
Cytogenetic Map7p15.3-p15.1UniSTS
HuRef744,107,945 - 44,108,039UniSTS
CRA_TCAGchr7v2744,262,171 - 44,262,265UniSTS
RH11460  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37744,184,123 - 44,184,244UniSTSGRCh37
Build 36744,150,648 - 44,150,769RGDNCBI36
Celera744,282,082 - 44,282,203RGD
Cytogenetic Map7p15.3-p15.1UniSTS
HuRef744,069,394 - 44,069,515UniSTS
CRA_TCAGchr7v2744,223,623 - 44,223,744UniSTS
GeneMap99-GB4 RH Map7208.58UniSTS
NCBI RH Map7646.1UniSTS
GDB:3754299  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37744,205,024 - 44,205,148UniSTSGRCh37
Build 36744,171,549 - 44,171,673RGDNCBI36
Celera744,302,988 - 44,303,112RGD
Cytogenetic Map7p15.3-p15.1UniSTS
HuRef744,090,302 - 44,090,426UniSTS
CRA_TCAGchr7v2744,244,528 - 44,244,652UniSTS
SHGC-12738  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37744,184,123 - 44,184,453UniSTSGRCh37
Build 36744,150,648 - 44,150,978RGDNCBI36
Celera744,282,082 - 44,282,412RGD
Cytogenetic Map7p15.3-p15.1UniSTS
HuRef744,069,394 - 44,069,724UniSTS
CRA_TCAGchr7v2744,223,623 - 44,223,953UniSTS
Stanford-G3 RH Map71913.0UniSTS
GeneMap99-G3 RH Map71913.0UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 6 301 39 1 39 2 1 344 10 20 1
Low 1063 1886 560 180 189 169 1968 781 3251 77 1179 611 11 616 1359 2
Below cutoff 1281 937 785 345 1224 195 2268 1309 110 260 200 857 160 1 587 1363

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_033507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_033508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC006454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH003112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH005826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK122876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY936170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY936171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD251038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA640823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU008605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ654470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB877574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC934983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX962837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC434130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC434131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC434132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC434133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC438360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC438361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC438362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC438363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC438364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC438365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC438366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC438367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M69051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M88011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M90299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000336642   ⟹   ENSP00000338009
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl744,144,275 - 44,146,144 (-)Ensembl
RefSeq Acc Id: ENST00000345378   ⟹   ENSP00000223366
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl744,144,275 - 44,159,282 (-)Ensembl
RefSeq Acc Id: ENST00000395796   ⟹   ENSP00000379142
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl744,144,277 - 44,159,275 (-)Ensembl
RefSeq Acc Id: ENST00000403799   ⟹   ENSP00000384247
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl744,144,275 - 44,189,439 (-)Ensembl
RefSeq Acc Id: ENST00000437084   ⟹   ENSP00000402840
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl744,145,132 - 44,188,987 (-)Ensembl
RefSeq Acc Id: ENST00000459642
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl744,144,273 - 44,146,129 (-)Ensembl
RefSeq Acc Id: ENST00000473353
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl744,145,644 - 44,147,125 (-)Ensembl
RefSeq Acc Id: ENST00000476008
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl744,153,391 - 44,198,170 (-)Ensembl
RefSeq Acc Id: ENST00000616242   ⟹   ENSP00000482149
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl744,144,324 - 44,189,439 (-)Ensembl
RefSeq Acc Id: ENST00000671824   ⟹   ENSP00000500264
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl744,144,334 - 44,189,439 (-)Ensembl
RefSeq Acc Id: ENST00000672743
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl744,143,772 - 44,145,939 (-)Ensembl
RefSeq Acc Id: ENST00000673284   ⟹   ENSP00000499852
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl744,143,213 - 44,189,439 (-)Ensembl
RefSeq Acc Id: ENST00000682635
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl744,148,310 - 44,189,439 (-)Ensembl
RefSeq Acc Id: ENST00000683378
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl744,144,328 - 44,146,707 (-)Ensembl
RefSeq Acc Id: NM_000162   ⟹   NP_000153
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,144,275 - 44,189,439 (-)NCBI
GRCh37744,183,870 - 44,229,022 (-)ENTREZGENE
Build 36744,150,395 - 44,195,563 (-)NCBI Archive
HuRef744,069,141 - 44,114,301 (-)ENTREZGENE
CHM1_1744,187,724 - 44,232,886 (-)NCBI
T2T-CHM13v2.0744,302,830 - 44,348,026 (-)NCBI
CRA_TCAGchr7v2744,223,370 - 44,268,527 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_001354800   ⟹   NP_001341729
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,143,213 - 44,189,439 (-)NCBI
T2T-CHM13v2.0744,301,768 - 44,348,026 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001354801   ⟹   NP_001341730
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,144,271 - 44,146,633 (-)NCBI
T2T-CHM13v2.0744,302,826 - 44,305,187 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001354802   ⟹   NP_001341731
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,143,213 - 44,146,144 (-)NCBI
T2T-CHM13v2.0744,301,768 - 44,304,699 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001354803   ⟹   NP_001341732
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,144,275 - 44,146,144 (-)NCBI
T2T-CHM13v2.0744,302,830 - 44,304,699 (-)NCBI
Sequence:
RefSeq Acc Id: NM_033507   ⟹   NP_277042
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,144,275 - 44,159,282 (-)NCBI
GRCh37744,183,870 - 44,229,022 (-)ENTREZGENE
Build 36744,150,395 - 44,165,412 (-)NCBI Archive
HuRef744,069,141 - 44,114,301 (-)ENTREZGENE
CHM1_1744,187,724 - 44,202,741 (-)NCBI
T2T-CHM13v2.0744,302,830 - 44,317,837 (-)NCBI
CRA_TCAGchr7v2744,223,370 - 44,268,527 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_033508   ⟹   NP_277043
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,144,275 - 44,159,282 (-)NCBI
GRCh37744,183,870 - 44,229,022 (-)ENTREZGENE
Build 36744,150,395 - 44,165,412 (-)NCBI Archive
HuRef744,069,141 - 44,114,301 (-)ENTREZGENE
CHM1_1744,187,724 - 44,202,741 (-)NCBI
T2T-CHM13v2.0744,302,830 - 44,317,837 (-)NCBI
CRA_TCAGchr7v2744,223,370 - 44,268,527 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: XM_024446707   ⟹   XP_024302475
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,144,271 - 44,146,144 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054357865   ⟹   XP_054213840
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0744,302,826 - 44,304,699 (-)NCBI
Protein Sequences
Protein RefSeqs NP_000153 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341729 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341730 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341731 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341732 (Get FASTA)   NCBI Sequence Viewer  
  NP_277042 (Get FASTA)   NCBI Sequence Viewer  
  NP_277043 (Get FASTA)   NCBI Sequence Viewer  
  XP_024302475 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213840 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA51824 (Get FASTA)   NCBI Sequence Viewer  
  AAA52562 (Get FASTA)   NCBI Sequence Viewer  
  AAB59563 (Get FASTA)   NCBI Sequence Viewer  
  AAB97680 (Get FASTA)   NCBI Sequence Viewer  
  AAH01890 (Get FASTA)   NCBI Sequence Viewer  
  AAP35711 (Get FASTA)   NCBI Sequence Viewer  
  ABS31137 (Get FASTA)   NCBI Sequence Viewer  
  AGA96145 (Get FASTA)   NCBI Sequence Viewer  
  AGH08211 (Get FASTA)   NCBI Sequence Viewer  
  AGH08212 (Get FASTA)   NCBI Sequence Viewer  
  AGH08213 (Get FASTA)   NCBI Sequence Viewer  
  AGH08214 (Get FASTA)   NCBI Sequence Viewer  
  AGH08215 (Get FASTA)   NCBI Sequence Viewer  
  AGH08216 (Get FASTA)   NCBI Sequence Viewer  
  AGH08217 (Get FASTA)   NCBI Sequence Viewer  
  AGH08218 (Get FASTA)   NCBI Sequence Viewer  
  AGH08220 (Get FASTA)   NCBI Sequence Viewer  
  AGH08221 (Get FASTA)   NCBI Sequence Viewer  
  AGH08222 (Get FASTA)   NCBI Sequence Viewer  
  AGH08223 (Get FASTA)   NCBI Sequence Viewer  
  BAG53774 (Get FASTA)   NCBI Sequence Viewer  
  CBF63115 (Get FASTA)   NCBI Sequence Viewer  
  CBU87991 (Get FASTA)   NCBI Sequence Viewer  
  EAL23764 (Get FASTA)   NCBI Sequence Viewer  
  EAL23765 (Get FASTA)   NCBI Sequence Viewer  
  EAL23766 (Get FASTA)   NCBI Sequence Viewer  
  EAW61114 (Get FASTA)   NCBI Sequence Viewer  
  EAW61115 (Get FASTA)   NCBI Sequence Viewer  
  EAW61116 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000223366
  ENSP00000223366.2
  ENSP00000338009
  ENSP00000338009.5
  ENSP00000379142.4
  ENSP00000384247
  ENSP00000384247.3
  ENSP00000402840.1
  ENSP00000482149.2
  ENSP00000499852
  ENSP00000499852.1
  ENSP00000500264.1
GenBank Protein P35557 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_000153   ⟸   NM_000162
- Peptide Label: isoform 1
- UniProtKB: A4D2J3 (UniProtKB/Swiss-Prot),   A4D2J2 (UniProtKB/Swiss-Prot),   Q05810 (UniProtKB/Swiss-Prot),   P35557 (UniProtKB/Swiss-Prot),   Q53Y25 (UniProtKB/TrEMBL),   A7LFL1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_277042   ⟸   NM_033507
- Peptide Label: isoform 2
- UniProtKB: A7LFL1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_277043   ⟸   NM_033508
- Peptide Label: isoform 3
- UniProtKB: A7LFL1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341729   ⟸   NM_001354800
- Peptide Label: isoform 4
- UniProtKB: A0A5F9ZGW4 (UniProtKB/TrEMBL),   A7LFL1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341731   ⟸   NM_001354802
- Peptide Label: isoform 5
- Sequence:
RefSeq Acc Id: NP_001341730   ⟸   NM_001354801
- Peptide Label: isoform 7
- Sequence:
RefSeq Acc Id: NP_001341732   ⟸   NM_001354803
- Peptide Label: isoform 6
- UniProtKB: H7BXV0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024302475   ⟸   XM_024446707
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000499852   ⟸   ENST00000673284
RefSeq Acc Id: ENSP00000223366   ⟸   ENST00000345378
RefSeq Acc Id: ENSP00000338009   ⟸   ENST00000336642
RefSeq Acc Id: ENSP00000384247   ⟸   ENST00000403799
RefSeq Acc Id: ENSP00000482149   ⟸   ENST00000616242
RefSeq Acc Id: ENSP00000379142   ⟸   ENST00000395796
RefSeq Acc Id: ENSP00000500264   ⟸   ENST00000671824
RefSeq Acc Id: ENSP00000402840   ⟸   ENST00000437084
RefSeq Acc Id: XP_054213840   ⟸   XM_054357865
- Peptide Label: isoform X1
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P35557-F1-model_v2 AlphaFold P35557 1-465 view protein structure

Promoters
RGD ID:7210501
Promoter ID:EPDNEW_H10996
Type:initiation region
Name:GCK_1
Description:glucokinase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10997  EPDNEW_H10998  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,146,134 - 44,146,194EPDNEW
RGD ID:6805703
Promoter ID:HG_KWN:57221
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   K562
Transcripts:UC003TKH.1,   UC003TKI.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36744,151,656 - 44,152,482 (-)MPROMDB
RGD ID:6805700
Promoter ID:HG_KWN:57222
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000343118
Position:
Human AssemblyChrPosition (strand)Source
Build 36744,153,531 - 44,154,031 (-)MPROMDB
RGD ID:7210503
Promoter ID:EPDNEW_H10997
Type:multiple initiation site
Name:GCK_3
Description:glucokinase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10996  EPDNEW_H10998  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,159,282 - 44,159,342EPDNEW
RGD ID:7210505
Promoter ID:EPDNEW_H10998
Type:initiation region
Name:GCK_2
Description:glucokinase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10996  EPDNEW_H10997  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,189,439 - 44,189,499EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4195 AgrOrtholog
COSMIC GCK COSMIC
Ensembl Genes ENSG00000106633 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000336642 ENTREZGENE
  ENST00000336642.9 UniProtKB/TrEMBL
  ENST00000345378 ENTREZGENE
  ENST00000345378.7 UniProtKB/Swiss-Prot
  ENST00000395796.8 UniProtKB/TrEMBL
  ENST00000403799 ENTREZGENE
  ENST00000403799.8 UniProtKB/Swiss-Prot
  ENST00000437084.1 UniProtKB/TrEMBL
  ENST00000616242.5 UniProtKB/TrEMBL
  ENST00000671824.1 UniProtKB/TrEMBL
  ENST00000673284 ENTREZGENE
  ENST00000673284.1 UniProtKB/TrEMBL
  ENST00000683378 ENTREZGENE
Gene3D-CATH 3.30.420.40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.367.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000106633 GTEx
HGNC ID HGNC:4195 ENTREZGENE
Human Proteome Map GCK Human Proteome Map
InterPro ATPase_NBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Hexokinase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Hexokinase_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Hexokinase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Hexokinase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2645 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2645 ENTREZGENE
OMIM 138079 OMIM
PANTHER PTHR19443 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR19443:SF3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Hexokinase_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Hexokinase_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB GCK RGD, PharmGKB
PRINTS HEXOKINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE HEXOKINASE_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HEXOKINASE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53067 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A5F9ZGW4 ENTREZGENE, UniProtKB/TrEMBL
  A0A5F9ZHE0_HUMAN UniProtKB/TrEMBL
  A0A8C8KJG0_HUMAN UniProtKB/TrEMBL
  A0A8C8PZE6_HUMAN UniProtKB/TrEMBL
  A4D2J2 ENTREZGENE
  A4D2J3 ENTREZGENE
  A7LFL1 ENTREZGENE, UniProtKB/TrEMBL
  C9JQD1_HUMAN UniProtKB/TrEMBL
  H7BXV0 ENTREZGENE, UniProtKB/TrEMBL
  HXK4_HUMAN UniProtKB/Swiss-Prot
  L0HBA3_HUMAN UniProtKB/TrEMBL
  M4PPE1_HUMAN UniProtKB/TrEMBL
  M4PPE6_HUMAN UniProtKB/TrEMBL
  M4PPI4_HUMAN UniProtKB/TrEMBL
  M4PPI9_HUMAN UniProtKB/TrEMBL
  M4PS72_HUMAN UniProtKB/TrEMBL
  M4PS76_HUMAN UniProtKB/TrEMBL
  M4PS83_HUMAN UniProtKB/TrEMBL
  M4PT45_HUMAN UniProtKB/TrEMBL
  M4Q000_HUMAN UniProtKB/TrEMBL
  M4Q005_HUMAN UniProtKB/TrEMBL
  M4Q009_HUMAN UniProtKB/TrEMBL
  P35557 ENTREZGENE
  Q05810 ENTREZGENE
  Q53Y25 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary A4D2J2 UniProtKB/Swiss-Prot
  A4D2J3 UniProtKB/Swiss-Prot
  Q05810 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-26 GCK  glucokinase  GCK  glucokinase (hexokinase 4)  Symbol and/or name change 5135510 APPROVED