HNF4A (hepatocyte nuclear factor 4 alpha) - Rat Genome Database

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Gene: HNF4A (hepatocyte nuclear factor 4 alpha) Homo sapiens
Analyze
Symbol: HNF4A
Name: hepatocyte nuclear factor 4 alpha
RGD ID: 69093
HGNC Page HGNC:5024
Description: Enables several functions, including DNA-binding transcription factor activity; fatty acid binding activity; and protein homodimerization activity. Involved in several processes, including blood coagulation; ornithine metabolic process; and regulation of DNA-templated transcription. Acts upstream of or within positive regulation of transcription by RNA polymerase II. Located in cytoplasm and nucleoplasm. Implicated in Fanconi renotubular syndrome 4; familial combined hyperlipidemia; hypoglycemia; maturity-onset diabetes of the young type 1; and type 2 diabetes mellitus. Biomarker of glaucoma; hepatocellular carcinoma; and liver cirrhosis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FLJ39654; FRTS4; hepatic nuclear factor 4 alpha; hepatocyte nuclear factor 4 4 alpha variant 1; hepatocyte nuclear factor 4 4 alpha variant 2; hepatocyte nuclear factor 4 4 alpha variant 4; hepatocyte nuclear factor 4, alpha; hepatocyte nuclear factor 4-alpha; HNF-4-alpha; HNF4; HNF4A wild type; HNF4a7; HNF4a8; HNF4a9; HNF4alpha; HNF4alpha10/11/12; MODY; MODY1; NR2A1; NR2A21; nuclear receptor subfamily 2 group A member 1; TCF; TCF-14; TCF14; transcription factor 14; transcription factor HNF-4; transcription factor-14
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Candidate Gene For: BW184_H BW169_H BW175_H BW180_H BW172_H BW170_H BW183_H BW179_H BW186_H BW174_H BW176_H BW182_H BW185_H BW181_H BW171_H BW187_H BW173_H BW177_H BW178_H GLUCO236_H
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382044,355,699 - 44,434,596 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl2044,355,699 - 44,432,845 (+)EnsemblGRCh38hg38GRCh38
GRCh372042,984,339 - 43,063,236 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362042,417,855 - 42,493,444 (+)NCBINCBI36Build 36hg18NCBI36
Build 342042,463,337 - 42,486,690NCBI
Celera2039,693,092 - 39,768,681 (+)NCBICelera
Cytogenetic Map20q13.12NCBI
HuRef2039,720,990 - 39,802,805 (+)NCBIHuRef
CHM1_12042,886,684 - 42,964,390 (+)NCBICHM1_1
T2T-CHM13v2.02046,090,439 - 46,170,188 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3',5'-cyclic AMP  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxynon-2-enal  (EXP)
4-hydroxyphenyl retinamide  (ISO)
5-azacytidine  (EXP)
5-fluorouracil  (EXP)
6-(4-chlorophenyl)imidazo[2,1-b][1,3]thiazole-5-carbaldehyde O-(3,4-dichlorobenzyl)oxime  (EXP)
9-cis-retinoic acid  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP)
AICA ribonucleotide  (ISO)
aldehydo-D-glucose  (EXP,ISO)
all-trans-retinoic acid  (EXP,ISO)
allyl isothiocyanate  (EXP)
amiodarone  (ISO)
ammonium chloride  (ISO)
androstane  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (EXP)
Aroclor 1254  (ISO)
atorvastatin calcium  (ISO)
baicalin  (EXP,ISO)
benzene  (ISO)
benzo[a]pyrene  (EXP)
berberine  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bosentan  (EXP)
bromobenzene  (ISO)
buta-1,3-diene  (ISO)
butanal  (EXP)
C60 fullerene  (ISO)
calcitriol  (EXP)
calcium atom  (ISO)
calcium(0)  (ISO)
cerulenin  (EXP)
CGP 52608  (EXP)
cholesterol  (ISO)
cholic acid  (ISO)
choline  (ISO)
chrysin  (EXP,ISO)
clofibrate  (ISO)
clothianidin  (EXP)
cobalt dichloride  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
cyclosporin A  (EXP,ISO)
cylindrospermopsin  (EXP)
D-glucose  (EXP,ISO)
deoxynivalenol  (EXP)
dexamethasone  (EXP,ISO)
dextran sulfate  (ISO)
diallyl trisulfide  (EXP)
diclofenac  (ISO)
dicrotophos  (EXP)
DPDPE  (ISO)
emodin  (EXP,ISO)
epoxiconazole  (ISO)
estriol  (EXP)
ethanol  (ISO)
flutamide  (ISO)
folic acid  (ISO)
fonofos  (EXP)
fructose  (EXP,ISO)
fulvestrant  (EXP)
furan  (ISO)
gamma-hexachlorocyclohexane  (ISO)
glucose  (EXP,ISO)
glutathione  (ISO)
GW 4064  (EXP,ISO)
hexadecanoic acid  (EXP)
hydrogen peroxide  (EXP)
L-methionine  (ISO)
lead nitrate  (ISO)
lipopolysaccharide  (ISO)
lithocholic acid  (ISO)
metformin  (ISO)
methapyrilene  (EXP,ISO)
methidathion  (ISO)
methimazole  (EXP,ISO)
methotrexate  (ISO)
methyl methanesulfonate  (EXP)
microcystin-LR  (ISO)
mifepristone  (EXP)
N,N,N',N'-tetrakis(2-pyridylmethyl)ethylenediamine  (EXP)
N-nitrosodiethylamine  (ISO)
N1'-[2-[[5-[(dimethylamino)methyl]-2-furanyl]methylthio]ethyl]-N1-methyl-2-nitroethene-1,1-diamine  (ISO)
nitrofen  (ISO)
Nonylphenol  (EXP)
obeticholic acid  (ISO)
ochratoxin A  (EXP,ISO)
oleic acid  (EXP,ISO)
palmitoyl-CoA  (EXP)
paracetamol  (EXP,ISO)
parathion  (EXP)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (EXP,ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
potassium bromate  (EXP)
potassium dichromate  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
proanthocyanidin  (ISO)
procymidone  (ISO)
progesterone  (EXP)
propanal  (EXP)
quercitrin  (EXP)
raloxifene  (EXP)
ranitidine  (ISO)
resveratrol  (ISO)
rifampicin  (EXP)
rimonabant  (EXP)
rosuvastatin calcium  (ISO)
silicon dioxide  (EXP)
sodium arsenite  (EXP,ISO)
streptozocin  (ISO)
sulindac  (ISO)
tamoxifen  (ISO)
taurocholic acid  (ISO)
terbufos  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
tetracycline  (ISO)
thapsigargin  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
Tributyltin oxide  (ISO)
trichlorfon  (EXP)
trichloroethene  (ISO)
triclosan  (EXP)
triptonide  (ISO)
troglitazone  (ISO)
uranium atom  (ISO)
urethane  (EXP)
valproic acid  (EXP)
vancomycin  (ISO)
zearalenone  (EXP)
zinc atom  (EXP,ISO)
zinc(0)  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
acyl-CoA metabolic process  (ISO)
aging  (ISO)
anatomical structure development  (IBA)
blood coagulation  (IDA)
blood coagulation  (IDA)
cell differentiation  (IBA,ISO)
cell-cell junction organization  (ISO)
cellular response to hypoxia  (ISO)
cholesterol homeostasis  (IEA,ISS)
DNA-templated transcription  (IEA)
establishment of tissue polarity  (ISO)
glucose homeostasis  (IEA)
glucose homeostasis  (ISS)
glucose homeostasis  (ISS)
hepatocyte differentiation  (IEA,ISO)
insulin secretion  (IEA)
intracellular receptor signaling pathway  (IEA)
lipid homeostasis  (IEA,IMP)
lipid metabolic process  (IEA)
lipid metabolic process  (IEA,ISO)
liver development  (IEA)
negative regulation of activation of Janus kinase activity  (ISO)
negative regulation of cell growth  (IMP)
negative regulation of cell migration  (ISO)
negative regulation of cell population proliferation  (IMP,ISO)
negative regulation of DNA-binding transcription factor activity  (ISO)
negative regulation of DNA-templated transcription  (IDA)
negative regulation of mitotic cell cycle  (ISO)
negative regulation of protein import into nucleus  (ISO)
negative regulation of tyrosine phosphorylation of STAT protein  (ISO)
ornithine metabolic process  (IMP)
pancreas development  (IEA)
phospholipid homeostasis  (IEA,ISS)
positive regulation of DNA-templated transcription  (IDA,IEA,ISO)
positive regulation of fatty acid biosynthetic process  (ISO)
positive regulation of gene expression  (ISO)
positive regulation of gluconeogenesis  (ISO)
positive regulation of transcription by RNA polymerase II  (IBA,IDA,IEA,IMP,ISO)
regulation of circadian rhythm  (IEA)
regulation of circadian rhythm  (IMP)
regulation of circadian rhythm  (IMP)
regulation of DNA-templated transcription  (IEA,ISO)
regulation of gastrulation  (IEA,ISO)
regulation of growth hormone receptor signaling pathway  (NAS)
regulation of insulin secretion  (IEA,ISS)
regulation of lipid metabolic process  (IDA)
regulation of microvillus assembly  (ISO)
regulation of transcription by RNA polymerase II  (IBA,IDA,IEA,IMP,ISO)
response to cAMP  (ISO)
response to dexamethasone  (ISO)
response to glucose  (IEA,ISO,ISS)
response to lipopolysaccharide  (ISO)
response to nutrient levels  (ISO)
response to trichostatin A  (ISO)
response to xenobiotic stimulus  (ISO)
rhythmic process  (IEA)
sex differentiation  (IEA,ISO)
signal transduction involved in regulation of gene expression  (IEA,ISO)
SMAD protein signal transduction  (IEA,ISO)
steroid hormone mediated signaling pathway  (IEA)
transcription by RNA polymerase II  (IEA,ISO)
triglyceride homeostasis  (IEA,ISS)
type B pancreatic cell development  (IEA)
xenobiotic metabolic process  (IMP)

Cellular Component
chromatin  (ISA)
cytoplasm  (IDA)
cytoplasm  (IDA)
cytoplasm  (ISO)
nucleoplasm  (IDA,IEA,TAS)
nucleus  (IDA)
nucleus  (IDA)
nucleus  (IEA)
nucleus  (ISO)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal circulating C-peptide concentration  (IAGP)
Abnormal circulating fatty-acid concentration  (IAGP)
Abnormal oral glucose tolerance  (IAGP)
Agitation  (IAGP)
Aminoaciduria  (IAGP)
Autosomal dominant inheritance  (IAGP)
Coma  (IAGP)
Diabetes mellitus  (IAGP)
Diarrhea  (IAGP)
Drowsiness  (IAGP)
Elevated circulating alkaline phosphatase concentration  (IAGP)
Elevated hemoglobin A1c  (IAGP)
Elevated hepatic transaminase  (IAGP)
Exocrine pancreatic insufficiency  (IAGP)
Fasting hypoglycemia  (IAGP)
Fatigue  (IAGP)
Flushing  (IAGP)
Focal-onset seizure  (IAGP)
Glycosuria  (IAGP)
Hepatocellular adenoma  (IAGP)
Hepatomegaly  (IAGP)
Hyperglycemia  (IAGP)
Hyperhidrosis  (IAGP)
Hyperinsulinemia  (IAGP)
Hyperinsulinemic hypoglycemia  (IAGP)
Hyperphosphaturia  (IAGP)
Hypoglycemia  (IAGP)
Hypoinsulinemia  (IAGP)
Hypoketotic hypoglycemia  (IAGP)
Hypophosphatemia  (IAGP)
Hypophosphatemic rickets  (IAGP)
Hypouricemia  (IAGP)
Increased hepatic glycogen content  (IAGP)
Increased waist to hip ratio  (IAGP)
Insulin resistance  (IAGP)
Intellectual disability  (IAGP)
Intrauterine growth retardation  (IAGP)
Large for gestational age  (IAGP)
Late onset  (IAGP)
Lethargy  (IAGP)
Maturity-onset diabetes of the young  (IAGP)
Metabolic acidosis  (IAGP)
Metabolic ketoacidosis  (IAGP)
Neonatal hypoglycemia  (IAGP)
Neonatal hypotonia  (IAGP)
Neonatal onset  (IAGP)
Nephrocalcinosis  (IAGP)
Nephropathy  (IAGP)
Obesity  (IAGP)
Overweight  (IAGP)
Pallor  (IAGP)
Pancreatic hypoplasia  (IAGP)
Pancreatic islet-cell hyperplasia  (IAGP)
Progressive neurologic deterioration  (IAGP)
Proteinuria  (IAGP)
Renal cyst  (IAGP)
Renal Fanconi syndrome  (IAGP)
Retinopathy  (IAGP)
Rickets  (IAGP)
Seizure  (IAGP)
Short stature  (IAGP)
Tachycardia  (IAGP)
Transient neonatal diabetes mellitus  (IAGP)
Tremor  (IAGP)
Type II diabetes mellitus  (IAGP)
Vomiting  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Population-specific risk of type 2 diabetes conferred by HNF4A P2 promoter variants: a lesson for replication studies. Barroso I, etal., Diabetes. 2008 Nov;57(11):3161-5. Epub 2008 Aug 26.
2. HNF4alpha and HNF1alpha dysfunction as a molecular rational for cyclosporine induced posttransplantation diabetes mellitus. Borlak J and Niehof M, PLoS One. 2009;4(3):e4662. doi: 10.1371/journal.pone.0004662. Epub 2009 Mar 2.
3. Cytosine methylation dysregulation in neonates following intrauterine growth restriction. Einstein F, etal., PLoS One. 2010 Jan 26;5(1):e8887. doi: 10.1371/journal.pone.0008887.
4. Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations. Flanagan SE, etal., Eur J Endocrinol. 2010 May;162(5):987-92. doi: 10.1530/EJE-09-0861. Epub 2010 Feb 17.
5. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
6. 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.
7. Persistent hyperinsulinemic hypoglycemia and maturity-onset diabetes of the young due to heterozygous HNF4A mutations. Kapoor RR, etal., Diabetes. 2008 Jun;57(6):1659-63. Epub 2008 Feb 11.
8. Association of stearoyl-CoA desaturase 1 activity with familial combined hyperlipidemia. Mar-Heyming R, etal., Arterioscler Thromb Vasc Biol. 2008 Jun;28(6):1193-9. doi: 10.1161/ATVBAHA.107.160150. Epub 2008 Mar 13.
9. High frequency of T130I mutation of HNF4A gene in Mexican patients with early-onset type 2 diabetes. Menjivar M, etal., Clin Genet. 2008 Feb;73(2):185-7. Epub 2007 Nov 19.
10. Expression of CYP3A23/1, CYP3A2, PXR, CAR and HNF4alpha in large-for-gestational-age neonatal rats. Ni S, etal., Pharmazie. 2009 Apr;64(4):252-7.
11. HNF4 alpha and the Ca-channel TRPC1 are novel disease candidate genes in diabetic nephropathy. Niehof M and Borlak J, Diabetes. 2008 Apr;57(4):1069-77. Epub 2008 Jan 9.
12. Hepatocyte nuclear factor 4 alpha suppresses the development of hepatocellular carcinoma. Ning BF, etal., Cancer Res. 2010 Oct 1;70(19):7640-51. doi: 10.1158/0008-5472.CAN-10-0824. Epub 2010 Sep 28.
13. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
14. Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene. Pearson ER, etal., PLoS Med. 2007 Apr;4(4):e118.
15. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
16. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
17. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
18. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
19. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
20. Integrated microarray analysis provided novel insights to the pathogenesis of glaucoma. Wang J, etal., Mol Med Rep. 2017 Dec;16(6):8735-8746. doi: 10.3892/mmr.2017.7711. Epub 2017 Oct 4.
21. Common hepatic nuclear factor-4alpha variants are associated with high serum lipid levels and the metabolic syndrome. Weissglas-Volkov D, etal., Diabetes. 2006 Jul;55(7):1970-7.
22. Down-regulation of hepatic HNF4alpha gene expression during hyperinsulinemia via SREBPs. Xie X, etal., Mol Endocrinol. 2009 Apr;23(4):434-43. doi: 10.1210/me.2007-0531. Epub 2009 Jan 29.
23. Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1) Yamagata K, etal., Nature. 1996 Dec 5;384(6608):458-60.
Additional References at PubMed
PMID:1899928   PMID:7568236   PMID:7615825   PMID:7651430   PMID:7926813   PMID:8622695   PMID:8964514   PMID:9048927   PMID:9115274   PMID:9243109   PMID:9267996   PMID:9294105  
PMID:9313765   PMID:9371825   PMID:9434765   PMID:9449683   PMID:9717844   PMID:9792714   PMID:9792724   PMID:9795230   PMID:9812974   PMID:10085149   PMID:10330009   PMID:10551874  
PMID:10594021   PMID:10609119   PMID:10652338   PMID:10737800   PMID:10786636   PMID:10882110   PMID:10995777   PMID:11229886   PMID:11535594   PMID:11549316   PMID:11590126   PMID:11717395  
PMID:11733490   PMID:11772903   PMID:11780052   PMID:11811951   PMID:11818510   PMID:11834723   PMID:11916906   PMID:11994285   PMID:12036449   PMID:12050210   PMID:12083813   PMID:12086970  
PMID:12089346   PMID:12097158   PMID:12101254   PMID:12110948   PMID:12133007   PMID:12203996   PMID:12205093   PMID:12220494   PMID:12235114   PMID:12413008   PMID:12477932   PMID:12504020  
PMID:12519792   PMID:12522137   PMID:12544512   PMID:12551987   PMID:12627330   PMID:12631740   PMID:12669197   PMID:12697672   PMID:12701690   PMID:12727872   PMID:12740371   PMID:12829997  
PMID:12855700   PMID:12911579   PMID:12944908   PMID:14551916   PMID:14563941   PMID:14654354   PMID:14702039   PMID:14722127   PMID:14741200   PMID:14988562   PMID:15047632   PMID:15047633  
PMID:15123688   PMID:15194767   PMID:15281001   PMID:15322103   PMID:15331348   PMID:15337761   PMID:15342556   PMID:15358161   PMID:15470081   PMID:15504983   PMID:15519277   PMID:15520459  
PMID:15547294   PMID:15561969   PMID:15574752   PMID:15604093   PMID:15616580   PMID:15651981   PMID:15660729   PMID:15728204   PMID:15734869   PMID:15735891   PMID:15735892   PMID:15744310  
PMID:15752752   PMID:15793260   PMID:15794920   PMID:15796896   PMID:15826954   PMID:15830177   PMID:15831710   PMID:15919766   PMID:15928245   PMID:15933212   PMID:15983230   PMID:16007190  
PMID:16051671   PMID:16186411   PMID:16223942   PMID:16338932   PMID:16455805   PMID:16488887   PMID:16502298   PMID:16523192   PMID:16562587   PMID:16584384   PMID:16644680   PMID:16712791  
PMID:16731855   PMID:16731861   PMID:16752173   PMID:16771709   PMID:16838170   PMID:16873704   PMID:16882880   PMID:16883527   PMID:16893891   PMID:16929032   PMID:16936201   PMID:16946562  
PMID:16955255   PMID:16978381   PMID:16980607   PMID:17007050   PMID:17022998   PMID:17052457   PMID:17259399   PMID:17264800   PMID:17291450   PMID:17300672   PMID:17317687   PMID:17327436  
PMID:17343826   PMID:17344191   PMID:17353931   PMID:17393984   PMID:17403900   PMID:17464991   PMID:17466274   PMID:17563455   PMID:17574576   PMID:17576804   PMID:17601994   PMID:17636037  
PMID:17764444   PMID:17785436   PMID:17805472   PMID:17827402   PMID:17827783   PMID:17876342   PMID:17885207   PMID:17891372   PMID:17894829   PMID:17895379   PMID:17920062   PMID:17923767  
PMID:17932483   PMID:17958743   PMID:17965524   PMID:17978169   PMID:17991764   PMID:17992261   PMID:18029348   PMID:18056193   PMID:18162503   PMID:18163890   PMID:18199540   PMID:18234786  
PMID:18305369   PMID:18305375   PMID:18346225   PMID:18356407   PMID:18391435   PMID:18395097   PMID:18426912   PMID:18498634   PMID:18513187   PMID:18513302   PMID:18552123   PMID:18561282  
PMID:18602983   PMID:18654034   PMID:18660489   PMID:18666237   PMID:18765665   PMID:18805788   PMID:18811724   PMID:18829458   PMID:18844932   PMID:18988528   PMID:19048623   PMID:19060906  
PMID:19115260   PMID:19147806   PMID:19154258   PMID:19188435   PMID:19228875   PMID:19228884   PMID:19274049   PMID:19302415   PMID:19336534   PMID:19353766   PMID:19389810   PMID:19406499  
PMID:19435525   PMID:19454287   PMID:19467232   PMID:19549071   PMID:19563409   PMID:19575803   PMID:19578796   PMID:19651776   PMID:19740748   PMID:19748811   PMID:19761587   PMID:19805548  
PMID:19846556   PMID:19913121   PMID:19915572   PMID:19924231   PMID:19934400   PMID:19948975   PMID:19966299   PMID:20003313   PMID:20079163   PMID:20086032   PMID:20158877   PMID:20167659  
PMID:20211142   PMID:20301549   PMID:20301750   PMID:20308432   PMID:20361036   PMID:20371703   PMID:20375098   PMID:20379614   PMID:20384434   PMID:20463007   PMID:20516075   PMID:20546279  
PMID:20558840   PMID:20576917   PMID:20622021   PMID:20628086   PMID:20670916   PMID:20682687   PMID:20684663   PMID:20686565   PMID:20705777   PMID:20714348   PMID:20735474   PMID:20817729  
PMID:20863361   PMID:20871093   PMID:20878384   PMID:20926756   PMID:20931292   PMID:20976847   PMID:21047794   PMID:21062274   PMID:21062980   PMID:21292004   PMID:21300955   PMID:21323639  
PMID:21352552   PMID:21384409   PMID:21442235   PMID:21493011   PMID:21494118   PMID:21532585   PMID:21618351   PMID:21633728   PMID:21646355   PMID:21683639   PMID:21708125   PMID:21725089  
PMID:21733563   PMID:21744425   PMID:21760481   PMID:21799848   PMID:21814221   PMID:21831733   PMID:21852396   PMID:21873635   PMID:21874001   PMID:21922456   PMID:21983932   PMID:21988832  
PMID:22009745   PMID:22060211   PMID:22068426   PMID:22140441   PMID:22153071   PMID:22155889   PMID:22158537   PMID:22197810   PMID:22240483   PMID:22282358   PMID:22308320   PMID:22333269  
PMID:22357705   PMID:22383578   PMID:22432108   PMID:22505616   PMID:22628013   PMID:22791717   PMID:22802087   PMID:22902540   PMID:22914433   PMID:22939635   PMID:22951069   PMID:22952853  
PMID:22960426   PMID:23038264   PMID:23052196   PMID:23108025   PMID:23128233   PMID:23268925   PMID:23292115   PMID:23307400   PMID:23348805   PMID:23354620   PMID:23551881   PMID:23628799  
PMID:23652628   PMID:23714182   PMID:23714368   PMID:23775631   PMID:23803251   PMID:23874642   PMID:23878349   PMID:23981200   PMID:24000795   PMID:24059685   PMID:24097068   PMID:24101726  
PMID:24177414   PMID:24285859   PMID:24299156   PMID:24323243   PMID:24384557   PMID:24399729   PMID:24448600   PMID:24463962   PMID:24509480   PMID:24559927   PMID:24619225   PMID:24711169  
PMID:24713057   PMID:24752868   PMID:24819304   PMID:24828613   PMID:25056436   PMID:25209865   PMID:25241761   PMID:25242412   PMID:25355887   PMID:25356900   PMID:25361053   PMID:25391650  
PMID:25400315   PMID:25410163   PMID:25422324   PMID:25445224   PMID:25592038   PMID:25616597   PMID:25671620   PMID:25786776   PMID:25808746   PMID:25819479   PMID:25910212   PMID:25965999  
PMID:26019449   PMID:26100857   PMID:26213157   PMID:26216285   PMID:26232425   PMID:26240283   PMID:26241054   PMID:26272613   PMID:26302721   PMID:26307397   PMID:26446475   PMID:26561320  
PMID:26624507   PMID:26670163   PMID:26692490   PMID:26743282   PMID:26781905   PMID:26848864   PMID:26870992   PMID:26926107   PMID:26981542   PMID:26996663   PMID:27011261   PMID:27029511  
PMID:27050273   PMID:27075303   PMID:27199446   PMID:27245055   PMID:27466601   PMID:27477312   PMID:27486234   PMID:27496803   PMID:27501760   PMID:27552834   PMID:27583872   PMID:27592052  
PMID:27660075   PMID:27875772   PMID:28000155   PMID:28128295   PMID:28196117   PMID:28385711   PMID:28473536   PMID:28514442   PMID:28583188   PMID:28591938   PMID:28597946   PMID:28648900  
PMID:28655781   PMID:28684784   PMID:28688048   PMID:28717196   PMID:28726775   PMID:28782802   PMID:28870599   PMID:28882825   PMID:29099273   PMID:29216278   PMID:29234104   PMID:29243296  
PMID:29378829   PMID:29469192   PMID:29472690   PMID:29493090   PMID:29509884   PMID:29566023   PMID:29792621   PMID:29898915   PMID:29927023   PMID:30109252   PMID:30124855   PMID:30246428  
PMID:30249878   PMID:30293189   PMID:30293568   PMID:30317608   PMID:30341289   PMID:30415809   PMID:30481753   PMID:30530698   PMID:30535491   PMID:30597922   PMID:30648609   PMID:30721564  
PMID:30840880   PMID:30860284   PMID:30873661   PMID:30962179   PMID:31045869   PMID:31068366   PMID:31216773   PMID:31219249   PMID:31230960   PMID:31311938   PMID:31322246   PMID:31343368  
PMID:31351930   PMID:31432508   PMID:31435165   PMID:31461081   PMID:31695151   PMID:31739614   PMID:31762160   PMID:31884577   PMID:32023898   PMID:32093682   PMID:32123031   PMID:32210451  
PMID:32332020   PMID:32348179   PMID:32385352   PMID:32402285   PMID:32516515   PMID:32538071   PMID:32770044   PMID:32802875   PMID:32826305   PMID:32857684   PMID:32915959   PMID:32998360  
PMID:33052062   PMID:33078654   PMID:33199830   PMID:33251707   PMID:33300557   PMID:33628089   PMID:33636024   PMID:33785712   PMID:33854885   PMID:33950347   PMID:33961781   PMID:34117215  
PMID:34120367   PMID:34170569   PMID:34171462   PMID:34196449   PMID:34309216   PMID:34435364   PMID:34583732   PMID:34654723   PMID:34746319   PMID:34974051   PMID:34984978   PMID:35006629  
PMID:35043148   PMID:35089870   PMID:35131168   PMID:35132353   PMID:35140242   PMID:35191422   PMID:35327967   PMID:35510773   PMID:35609419   PMID:35849431   PMID:35892182   PMID:35917569  
PMID:35944360   PMID:36243044   PMID:36473131  


Genomics

Comparative Map Data
HNF4A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382044,355,699 - 44,434,596 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl2044,355,699 - 44,432,845 (+)EnsemblGRCh38hg38GRCh38
GRCh372042,984,339 - 43,063,236 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362042,417,855 - 42,493,444 (+)NCBINCBI36Build 36hg18NCBI36
Build 342042,463,337 - 42,486,690NCBI
Celera2039,693,092 - 39,768,681 (+)NCBICelera
Cytogenetic Map20q13.12NCBI
HuRef2039,720,990 - 39,802,805 (+)NCBIHuRef
CHM1_12042,886,684 - 42,964,390 (+)NCBICHM1_1
T2T-CHM13v2.02046,090,439 - 46,170,188 (+)NCBIT2T-CHM13v2.0
Hnf4a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392163,348,731 - 163,414,827 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2163,348,728 - 163,414,830 (+)EnsemblGRCm39 Ensembl
GRCm382163,506,811 - 163,572,907 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2163,506,808 - 163,572,910 (+)EnsemblGRCm38mm10GRCm38
MGSCv372163,372,924 - 163,398,643 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362163,238,629 - 163,264,348 (+)NCBIMGSCv36mm8
Celera2169,490,574 - 169,516,277 (+)NCBICelera
Cytogenetic Map2H3NCBI
cM Map284.32NCBI
Hnf4a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.23152,186,787 - 152,248,320 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3152,186,787 - 152,248,320 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx3155,994,276 - 156,055,801 (+)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.03164,493,207 - 164,554,741 (+)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.03162,237,152 - 162,298,687 (+)NCBIRnor_WKY
Rnor_6.03159,902,441 - 159,965,003 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3159,902,441 - 159,965,003 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03166,093,091 - 166,155,667 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43154,459,863 - 154,482,825 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.13154,365,898 - 154,388,861 (+)NCBI
Celera3150,839,856 - 150,901,426 (+)NCBICelera
RH 3.4 Map31376.5RGD
Cytogenetic Map3q42NCBI
Hnf4a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544512,924,662 - 12,984,281 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495544512,925,248 - 12,962,501 (-)NCBIChiLan1.0ChiLan1.0
HNF4A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12041,823,939 - 41,856,536 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2041,779,034 - 41,856,536 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02040,684,450 - 40,763,824 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
HNF4A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12431,847,864 - 31,908,337 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2431,847,961 - 31,905,916 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2431,489,547 - 31,550,077 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02432,554,576 - 32,615,122 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2432,536,281 - 32,612,159 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12431,817,381 - 31,877,879 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02431,930,338 - 31,991,205 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02432,472,512 - 32,533,044 (+)NCBIUU_Cfam_GSD_1.0
Hnf4a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640180,851,597 - 180,905,201 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365302,401,043 - 2,454,466 (-)EnsemblSpeTri2.0
SpeTri2.0NW_0049365302,401,053 - 2,425,989 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HNF4A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1746,783,777 - 46,847,500 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11746,783,772 - 46,847,505 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21752,232,425 - 52,296,703 (+)NCBISscrofa10.2Sscrofa10.2susScr3
HNF4A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1219,390,870 - 19,466,300 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl219,388,891 - 19,421,664 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605068,060,334 - 68,135,869 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Hnf4a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462479010,038,999 - 10,100,649 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462479010,039,344 - 10,065,167 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in HNF4A
372 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_175914.5(HNF4A):c.724del (p.Val242fs) deletion Maturity onset diabetes mellitus in young [RCV002376954]|not provided [RCV000517835] Chr20:44419772 [GRCh38]
Chr20:43048412 [GRCh37]
Chr20:20q13.12
pathogenic
NM_175914.5(HNF4A):c.968del (p.Gln323fs) deletion not provided [RCV000518071] Chr20:44424159 [GRCh38]
Chr20:43052799 [GRCh37]
Chr20:20q13.12
pathogenic
NM_175914.5(HNF4A):c.670+7C>T single nucleotide variant not specified [RCV000518627] Chr20:44418519 [GRCh38]
Chr20:43047159 [GRCh37]
Chr20:20q13.12
likely benign
NM_175914.5(HNF4A):c.868C>T (p.Arg290Cys) single nucleotide variant not provided [RCV000516515] Chr20:44424059 [GRCh38]
Chr20:43052699 [GRCh37]
Chr20:20q13.12
likely pathogenic|conflicting interpretations of pathogenicity
NM_175914.5(HNF4A):c.745G>T (p.Glu249Ter) single nucleotide variant not provided [RCV000518730] Chr20:44419795 [GRCh38]
Chr20:43048435 [GRCh37]
Chr20:20q13.12
pathogenic
NM_175914.5(HNF4A):c.403C>T (p.Gln135Ter) single nucleotide variant not provided [RCV000520909] Chr20:44413777 [GRCh38]
Chr20:43042417 [GRCh37]
Chr20:20q13.12
pathogenic
NM_175914.5(HNF4A):c.590T>C (p.Leu197Pro) single nucleotide variant not specified [RCV000517726] Chr20:44418432 [GRCh38]
Chr20:43047072 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.464G>A (p.Arg155Gln) single nucleotide variant Maturity-onset diabetes of the young type 1 [RCV002497011]|not provided [RCV000522216] Chr20:44414544 [GRCh38]
Chr20:43043184 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.692G>A (p.Arg231Gln) single nucleotide variant not provided [RCV000516891] Chr20:44419742 [GRCh38]
Chr20:43048382 [GRCh37]
Chr20:20q13.12
likely pathogenic
NM_175914.5(HNF4A):c.232C>T (p.Arg78Trp) single nucleotide variant Maturity-onset diabetes of the young type 1 [RCV002481674]|not provided [RCV001755765]|not specified [RCV000517196] Chr20:44407388 [GRCh38]
Chr20:43036028 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.1032T>A (p.Ile344=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002395235]|Maturity-onset diabetes of the young type 1 [RCV002490883]|not provided [RCV001565494]|not specified [RCV000516333] Chr20:44424223 [GRCh38]
Chr20:43052863 [GRCh37]
Chr20:20q13.12
benign|likely benign
NM_175914.5(HNF4A):c.427-4G>A single nucleotide variant Maturity onset diabetes mellitus in young [RCV002226713]|Type 2 diabetes mellitus [RCV001258240]|not provided [RCV000901336]|not specified [RCV000518191] Chr20:44414503 [GRCh38]
Chr20:43043143 [GRCh37]
Chr20:20q13.12
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_175914.5(HNF4A):c.763C>T (p.Gln255Ter) single nucleotide variant Maturity-onset diabetes of the young type 1 [RCV000009790]|not provided [RCV001659688] Chr20:44419813 [GRCh38]
Chr20:43048453 [GRCh37]
Chr20:20q13.12
pathogenic
NM_175914.5(HNF4A):c.421C>T (p.Arg141Ter) single nucleotide variant Maturity-onset diabetes of the young type 1 [RCV000009791]|not provided [RCV000516683] Chr20:44413795 [GRCh38]
Chr20:43042435 [GRCh37]
Chr20:20q13.12
pathogenic
NM_175914.5(HNF4A):c.340C>T (p.Arg114Trp) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002453254]|Maturity-onset diabetes of the young type 1 [RCV000009792]|Maturity-onset diabetes of the young type 1 [RCV001536085]|not provided [RCV000711955]|not specified [RCV001375546] Chr20:44413714 [GRCh38]
Chr20:43042354 [GRCh37]
Chr20:20q13.12
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_175914.5(HNF4A):c.1138G>A (p.Val380Ile) single nucleotide variant Maturity-onset diabetes of the young type 1 [RCV002482848]|Type 2 diabetes mellitus [RCV000009793]|not provided [RCV000481825] Chr20:44428409 [GRCh38]
Chr20:43057049 [GRCh37]
Chr20:20q13.12
pathogenic|uncertain significance
NM_175914.5(HNF4A):c.1052T>G (p.Met351Arg) single nucleotide variant Maturity-onset diabetes of the young type 1 [RCV000009796] Chr20:44424243 [GRCh38]
Chr20:43052883 [GRCh37]
Chr20:20q13.12
pathogenic
NM_175914.5(HNF4A):c.1097C>G (p.Pro366Arg) single nucleotide variant Maturity-onset diabetes of the young type 1 [RCV000030012]|not specified [RCV002247399] Chr20:44428368 [GRCh38]
Chr20:43057008 [GRCh37]
Chr20:20q13.12
likely pathogenic|uncertain significance
NM_175914.5(HNF4A):c.1137C>T (p.Asn379=) single nucleotide variant Familial hyperinsulinism [RCV001139382]|Maturity onset diabetes mellitus in young [RCV002321491]|Maturity-onset diabetes of the young type 1 [RCV000030013]|Maturity-onset diabetes of the young type 1 [RCV002496457]|not provided [RCV000954523]|not specified [RCV000243741] Chr20:44428408 [GRCh38]
Chr20:43057048 [GRCh37]
Chr20:20q13.12
benign|likely benign|conflicting interpretations of pathogenicity
NM_175914.5(HNF4A):c.1187G>C (p.Cys396Ser) single nucleotide variant Maturity-onset diabetes of the young type 1 [RCV000030014] Chr20:44428458 [GRCh38]
Chr20:43057098 [GRCh37]
Chr20:20q13.12
likely pathogenic
NM_175914.5(HNF4A):c.1321A>G (p.Ile441Val) single nucleotide variant Autosomal dominant polycystic liver disease [RCV001844803]|Familial hyperinsulinism [RCV001142000]|Maturity-onset diabetes of the young type 1 [RCV000030015]|Maturity-onset diabetes of the young type 1 [RCV000764241]|not provided [RCV000725499]|not specified [RCV001358754] Chr20:44429627 [GRCh38]
Chr20:43058267 [GRCh37]
Chr20:20q13.12
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_175914.5(HNF4A):c.*4G>A single nucleotide variant Maturity-onset diabetes of the young type 1 [RCV000030016]|not provided [RCV002472940] Chr20:44429669 [GRCh38]
Chr20:43058309 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.84G>A (p.Ala28=) single nucleotide variant Familial hyperinsulinism [RCV000326102]|Maturity onset diabetes mellitus in young [RCV002444446]|Maturity-onset diabetes of the young type 1 [RCV000030017]|not provided [RCV000934114]|not specified [RCV000246272] Chr20:44406092 [GRCh38]
Chr20:43034732 [GRCh37]
Chr20:20q13.12
benign|likely benign|uncertain significance
NM_175914.5(HNF4A):c.281_282delinsC (p.Arg94fs) indel Maturity-onset diabetes of the young type 1 [RCV000030018]|not provided [RCV000992162] Chr20:44407437..44407438 [GRCh38]
Chr20:43036077..43036078 [GRCh37]
Chr20:20q13.12
pathogenic|likely pathogenic
NM_175914.5(HNF4A):c.361A>G (p.Ser121Gly) single nucleotide variant Maturity onset diabetes mellitus in young [RCV001248909]|Maturity-onset diabetes of the young type 1 [RCV002496458]|not provided [RCV000484752]|not specified [RCV000030019] Chr20:44413735 [GRCh38]
Chr20:43042375 [GRCh37]
Chr20:20q13.12
likely pathogenic|uncertain significance
NM_175914.5(HNF4A):c.381G>A (p.Leu127=) single nucleotide variant Familial hyperinsulinism [RCV001139277]|Maturity-onset diabetes of the young type 1 [RCV000030020]|not provided [RCV000886268]|not specified [RCV001818188] Chr20:44413755 [GRCh38]
Chr20:43042395 [GRCh37]
Chr20:20q13.12
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_175914.5(HNF4A):c.393T>C (p.Asn131=) single nucleotide variant Familial hyperinsulinism [RCV000401137]|Maturity onset diabetes mellitus in young [RCV002371790]|Maturity-onset diabetes of the young type 1 [RCV000030021]|Type 2 diabetes mellitus [RCV002226657]|not provided [RCV000880936]|not specified [RCV000248180] Chr20:44413767 [GRCh38]
Chr20:43042407 [GRCh37]
Chr20:20q13.12
benign|likely benign|uncertain significance
NM_175914.5(HNF4A):c.426+6G>A single nucleotide variant Familial hyperinsulinism [RCV001141895]|Maturity-onset diabetes of the young type 1 [RCV000030022]|not provided [RCV000711958]|not specified [RCV000428253] Chr20:44413806 [GRCh38]
Chr20:43042446 [GRCh37]
Chr20:20q13.12
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_175914.5(HNF4A):c.439G>A (p.Val147Ile) single nucleotide variant Familial hyperinsulinism [RCV000340715]|Maturity onset diabetes mellitus in young [RCV002326694]|Maturity-onset diabetes of the young type 1 [RCV000030023]|Type 2 diabetes mellitus [RCV000490471]|not provided [RCV000117239]|not specified [RCV000516787] Chr20:44414519 [GRCh38]
Chr20:43043159 [GRCh37]
Chr20:20q13.12
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_175914.5(HNF4A):c.553G>C (p.Ala185Pro) single nucleotide variant Maturity-onset diabetes of the young type 1 [RCV000030024] Chr20:44414633 [GRCh38]
Chr20:43043273 [GRCh37]
Chr20:20q13.12
likely pathogenic
NM_175914.5(HNF4A):c.575_582+10del deletion Maturity-onset diabetes of the young type 1 [RCV000030025] Chr20:44414652..44414669 [GRCh38]
Chr20:43043292..43043309 [GRCh37]
Chr20:20q13.12
likely pathogenic
NM_175914.5(HNF4A):c.660_662delinsTCAA (p.Leu221fs) indel Maturity-onset diabetes of the young type 1 [RCV000030026] Chr20:44418502..44418504 [GRCh38]
Chr20:43047142..43047144 [GRCh37]
Chr20:20q13.12
likely pathogenic
NM_175914.5(HNF4A):c.669A>G (p.Leu223=) single nucleotide variant Familial hyperinsulinism [RCV001137144]|Maturity onset diabetes mellitus in young [RCV002362599]|Maturity-onset diabetes of the young type 1 [RCV000030027]|Maturity-onset diabetes of the young type 1 [RCV002490415]|not provided [RCV000961698]|not specified [RCV000192677] Chr20:44418511 [GRCh38]
Chr20:43047151 [GRCh37]
Chr20:20q13.12
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_175914.5(HNF4A):c.696C>T (p.His232=) single nucleotide variant Familial hyperinsulinism [RCV001137145]|Maturity onset diabetes mellitus in young [RCV002362600]|Maturity-onset diabetes of the young type 1 [RCV000030028]|not provided [RCV000883569]|not specified [RCV001818189] Chr20:44419746 [GRCh38]
Chr20:43048386 [GRCh37]
Chr20:20q13.12
benign|likely benign
NM_175914.5(HNF4A):c.744C>T (p.Asp248=) single nucleotide variant Familial hyperinsulinism [RCV001137148]|Maturity onset diabetes mellitus in young [RCV002381269]|Maturity-onset diabetes of the young type 1 [RCV000030029]|Maturity-onset diabetes of the young type 1 [RCV002477024]|not provided [RCV000965473]|not specified [RCV000254264] Chr20:44419794 [GRCh38]
Chr20:43048434 [GRCh37]
Chr20:20q13.12
benign|likely benign|conflicting interpretations of pathogenicity
NM_175914.5(HNF4A):c.768G>C (p.Glu256Asp) single nucleotide variant Maturity onset diabetes mellitus in young [RCV001248910]|Maturity-onset diabetes of the young type 1 [RCV000030030]|not provided [RCV001659732]|not specified [RCV001420861] Chr20:44419818 [GRCh38]
Chr20:43048458 [GRCh37]
Chr20:20q13.12
likely pathogenic|uncertain significance
NM_175914.5(HNF4A):c.826+30dup duplication Maturity-onset diabetes of the young type 1 [RCV000030031] Chr20:44419905..44419906 [GRCh38]
Chr20:43048545..43048546 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.840G>A (p.Leu280=) single nucleotide variant Maturity-onset diabetes of the young type 1 [RCV000030032] Chr20:44424031 [GRCh38]
Chr20:43052671 [GRCh37]
Chr20:20q13.12
likely benign
NM_175914.5(HNF4A):c.924G>T (p.Ser308=) single nucleotide variant Maturity-onset diabetes of the young type 1 [RCV000030033]|not provided [RCV002054494] Chr20:44424115 [GRCh38]
Chr20:43052755 [GRCh37]
Chr20:20q13.12
benign|likely benign
NM_175914.5(HNF4A):c.925C>T (p.Arg309Cys) single nucleotide variant Hyperinsulinemia [RCV000193933]|Maturity onset diabetes mellitus in young [RCV001249093]|Maturity-onset diabetes of the young type 1 [RCV000030034]|not provided [RCV000517103] Chr20:44424116 [GRCh38]
Chr20:43052756 [GRCh37]
Chr20:20q13.12
pathogenic|likely pathogenic|uncertain significance
NM_175914.5(HNF4A):c.931C>T (p.Arg311Cys) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002509171]|not provided [RCV000766932]|not specified [RCV000497992] Chr20:44424122 [GRCh38]
Chr20:43052762 [GRCh37]
Chr20:20q13.12
pathogenic|likely pathogenic|uncertain significance
HNF4A, 1-BP DEL, PHE75T deletion Maturity-onset diabetes of the young type 1 [RCV000009794] Chr20:20q12-q13.1 pathogenic
NM_175914.5(HNF4A):c.583-2del deletion Maturity-onset diabetes of the young type 1 [RCV000009795] Chr20:44418423 [GRCh38]
Chr20:43047063 [GRCh37]
Chr20:20q13.12
pathogenic
HNF4A deletion deletion Maturity-onset diabetes of the young type 1 [RCV000030036] Chr20:20q13.12 likely pathogenic
NM_000457.4(HNF4A):c.1149C>T (p.Pro383=) single nucleotide variant Malignant melanoma [RCV000072644] Chr20:44428354 [GRCh38]
Chr20:43056994 [GRCh37]
Chr20:42490408 [NCBI36]
Chr20:20q13.12
not provided
NM_175914.5(HNF4A):c.778G>T (p.Asp260Tyr) single nucleotide variant Monogenic diabetes [RCV000664160] Chr20:44419828 [GRCh38]
Chr20:43048468 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.454G>A (p.Gly152Ser) single nucleotide variant Monogenic diabetes [RCV000664159] Chr20:44414534 [GRCh38]
Chr20:43043174 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.1267C>T (p.Pro423Ser) single nucleotide variant Maturity-onset diabetes of the young type 1 [RCV002483195]|not provided [RCV000117235] Chr20:44429573 [GRCh38]
Chr20:43058213 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.135C>T (p.Ala45=) single nucleotide variant Familial hyperinsulinism [RCV000329726]|Maturity onset diabetes mellitus in young [RCV002381428]|Maturity-onset diabetes of the young type 1 [RCV000272263]|not provided [RCV000710148]|not specified [RCV000117236] Chr20:44406143 [GRCh38]
Chr20:43034783 [GRCh37]
Chr20:20q13.12
benign|likely benign
NM_175914.5(HNF4A):c.50-5C>T single nucleotide variant Glycosuria [RCV002226672]|Hyperinsulinism, Dominant [RCV000268875]|Maturity onset diabetes mellitus in young [RCV000361090]|not provided [RCV000710147]|not specified [RCV000117237] Chr20:44406053 [GRCh38]
Chr20:43034693 [GRCh37]
Chr20:20q13.12
benign|likely benign|conflicting interpretations of pathogenicity
NM_175914.5(HNF4A):c.350C>T (p.Thr117Ile) single nucleotide variant Familial hyperinsulinism [RCV000280314]|Maturity onset diabetes mellitus in young [RCV002453432]|Maturity-onset diabetes of the young type 1 [RCV000337755]|Monogenic diabetes [RCV000445529]|Type 2 diabetes mellitus [RCV002226673]|not provided [RCV001521057]|not specified [RCV000117238] Chr20:44413724 [GRCh38]
Chr20:43042364 [GRCh37]
Chr20:20q13.12
benign|likely benign|conflicting interpretations of pathogenicity
NM_175914.5(HNF4A):c.187C>T (p.Arg63Trp) single nucleotide variant Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young [RCV000144170]|Hyperinsulinemia [RCV000193614]|Maturity onset diabetes mellitus in young [RCV002408643]|Maturity-onset diabetes of the young type 1 [RCV000763446]|Maturity-onset diabetes of the young type 1 [RCV000850560]|not provided [RCV000255966] Chr20:44406195 [GRCh38]
Chr20:43034835 [GRCh37]
Chr20:20q13.12
pathogenic
NM_175914.5(HNF4A):c.1194G>T (p.Trp398Cys) single nucleotide variant not provided [RCV002224805] Chr20:44428465 [GRCh38]
Chr20:43057105 [GRCh37]
Chr20:20q13.12
uncertain significance
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33
pathogenic
GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1 copy number loss See cases [RCV000140816] Chr20:35237946..47631818 [GRCh38]
Chr20:33825749..46260562 [GRCh37]
Chr20:33289165..45693969 [NCBI36]
Chr20:20q11.22-13.12
pathogenic
NM_175914.5(HNF4A):c.514C>T (p.Gln172Ter) single nucleotide variant not provided [RCV000579276] Chr20:44414594 [GRCh38]
Chr20:43043234 [GRCh37]
Chr20:20q13.12
pathogenic
NM_175914.5(HNF4A):c.1243C>T (p.Pro415Ser) single nucleotide variant Familial hyperinsulinism [RCV000332137]|Maturity onset diabetes mellitus in young [RCV002227088]|Maturity-onset diabetes of the young type 1 [RCV000370494]|not provided [RCV000925459]|not specified [RCV000192779] Chr20:44429549 [GRCh38]
Chr20:43058189 [GRCh37]
Chr20:20q13.12
benign|likely benign|uncertain significance
NM_175914.5(HNF4A):c.427-5C>T single nucleotide variant Familial hyperinsulinism [RCV001141896]|Maturity-onset diabetes of the young type 1 [RCV001141897]|not provided [RCV002056990]|not specified [RCV000194836] Chr20:44414502 [GRCh38]
Chr20:43043142 [GRCh37]
Chr20:20q13.12
likely benign|uncertain significance
NM_175914.5(HNF4A):c.582+1G>A single nucleotide variant Maturity onset diabetes mellitus in young [RCV002352258]|Maturity-onset diabetes of the young type 1 [RCV000754818] Chr20:44414663 [GRCh38]
Chr20:43043303 [GRCh37]
Chr20:20q13.12
pathogenic|likely pathogenic
NM_175914.5(HNF4A):c.763C>G (p.Gln255Glu) single nucleotide variant Maturity-onset diabetes of the young type 1 [RCV000504596] Chr20:44419813 [GRCh38]
Chr20:43048453 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.670+18C>A single nucleotide variant not specified [RCV000249285] Chr20:44418530 [GRCh38]
Chr20:43047170 [GRCh37]
Chr20:20q13.12
likely benign
NM_175914.5(HNF4A):c.319+19C>T single nucleotide variant Maturity onset diabetes mellitus in young [RCV002321937]|not provided [RCV002058454]|not specified [RCV000252049] Chr20:44407494 [GRCh38]
Chr20:43036134 [GRCh37]
Chr20:20q13.12
benign
NM_175914.5(HNF4A):c.427-20C>T single nucleotide variant Maturity-onset diabetes of the young type 1 [RCV002506254]|not provided [RCV001796090]|not specified [RCV000517635] Chr20:44414487 [GRCh38]
Chr20:43043127 [GRCh37]
Chr20:20q13.12
benign|likely benign
NM_175914.5(HNF4A):c.*2703dup duplication Hyperinsulinism, Dominant [RCV000280835]|Maturity onset diabetes mellitus in young [RCV000265449] Chr20:44432344..44432345 [GRCh38]
Chr20:43060984..43060985 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.*1832G>A single nucleotide variant Familial hyperinsulinism [RCV000287827]|Maturity onset diabetes mellitus in young [RCV002465625]|Maturity-onset diabetes of the young type 1 [RCV000382149]|not provided [RCV001778929] Chr20:44431497 [GRCh38]
Chr20:43060137 [GRCh37]
Chr20:20q13.12
benign|likely benign
NM_175914.5(HNF4A):c.*906A>C single nucleotide variant Familial hyperinsulinism [RCV000270968]|Maturity onset diabetes mellitus in young [RCV002465624]|Maturity-onset diabetes of the young type 1 [RCV000365535]|not provided [RCV001672592] Chr20:44430571 [GRCh38]
Chr20:43059211 [GRCh37]
Chr20:20q13.12
benign|likely benign
NM_175914.5(HNF4A):c.*167T>A single nucleotide variant Familial hyperinsulinism [RCV000399364]|Maturity-onset diabetes of the young type 1 [RCV000288947]|not provided [RCV001590988]|not specified [RCV000732365] Chr20:44429832 [GRCh38]
Chr20:43058472 [GRCh37]
Chr20:20q13.12
benign|likely benign
NM_175914.5(HNF4A):c.*392T>G single nucleotide variant Familial hyperinsulinism [RCV000327583]|Maturity-onset diabetes of the young type 1 [RCV000272478]|not provided [RCV001613108] Chr20:44430057 [GRCh38]
Chr20:43058697 [GRCh37]
Chr20:20q13.12
benign|likely benign
NM_175914.5(HNF4A):c.*1089del deletion Hyperinsulinism, Dominant [RCV000293595]|Maturity onset diabetes mellitus in young [RCV000387905] Chr20:44430752 [GRCh38]
Chr20:43059392 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.*277T>C single nucleotide variant Familial hyperinsulinism [RCV000353558]|Maturity-onset diabetes of the young type 1 [RCV000276134] Chr20:44429942 [GRCh38]
Chr20:43058582 [GRCh37]
Chr20:20q13.12
benign|likely benign
NM_175914.5(HNF4A):c.*1C>A single nucleotide variant Familial hyperinsulinism [RCV000317030]|Maturity-onset diabetes of the young type 1 [RCV000259465]|not provided [RCV002225592] Chr20:44429666 [GRCh38]
Chr20:43058306 [GRCh37]
Chr20:20q13.12
likely benign|uncertain significance
NM_175914.5(HNF4A):c.*572C>A single nucleotide variant Familial hyperinsulinism [RCV000389996]|Maturity-onset diabetes of the young type 1 [RCV000280538] Chr20:44430237 [GRCh38]
Chr20:43058877 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.*2182G>A single nucleotide variant Familial hyperinsulinism [RCV000299404]|Maturity-onset diabetes of the young type 1 [RCV000400903] Chr20:44431847 [GRCh38]
Chr20:43060487 [GRCh37]
Chr20:20q13.12
benign|likely benign|uncertain significance
NM_175914.5(HNF4A):c.*145T>A single nucleotide variant Familial hyperinsulinism [RCV000377327]|Maturity-onset diabetes of the young type 1 [RCV000320344]|Maturity-onset diabetes of the young type 1 [RCV002502303] Chr20:44429810 [GRCh38]
Chr20:43058450 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.*2153T>C single nucleotide variant Familial hyperinsulinism [RCV000342595]|Maturity-onset diabetes of the young type 1 [RCV000399483] Chr20:44431818 [GRCh38]
Chr20:43060458 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.1176C>T (p.Asn392=) single nucleotide variant Familial hyperinsulinism [RCV000270831]|Maturity onset diabetes mellitus in young [RCV002328864]|Maturity-onset diabetes of the young type 1 [RCV000309520]|not provided [RCV000884368] Chr20:44428447 [GRCh38]
Chr20:43057087 [GRCh37]
Chr20:20q13.12
benign|likely benign|uncertain significance
NM_175914.5(HNF4A):c.*906A>T single nucleotide variant Familial hyperinsulinism [RCV000361574]|Maturity-onset diabetes of the young type 1 [RCV000306835]|not provided [RCV001683349] Chr20:44430571 [GRCh38]
Chr20:43059211 [GRCh37]
Chr20:20q13.12
benign|likely benign
NM_175914.5(HNF4A):c.*1095G>A single nucleotide variant Familial hyperinsulinism [RCV000344922]|Maturity-onset diabetes of the young type 1 [RCV000308743] Chr20:44430760 [GRCh38]
Chr20:43059400 [GRCh37]
Chr20:20q13.12
benign|likely benign|uncertain significance
NM_175914.5(HNF4A):c.*2193T>C single nucleotide variant Familial hyperinsulinism [RCV000354252]|Maturity-onset diabetes of the young type 1 [RCV000406957] Chr20:44431858 [GRCh38]
Chr20:43060498 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.*2533G>A single nucleotide variant Familial hyperinsulinism [RCV000272066]|Maturity-onset diabetes of the young type 1 [RCV000366676] Chr20:44432198 [GRCh38]
Chr20:43060838 [GRCh37]
Chr20:20q13.12
benign|likely benign
NM_175914.5(HNF4A):c.1216+6C>A single nucleotide variant Familial hyperinsulinism [RCV000274251]|Maturity-onset diabetes of the young type 1 [RCV000366473] Chr20:44428493 [GRCh38]
Chr20:43057133 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.*242T>C single nucleotide variant Familial hyperinsulinism [RCV000368450]|Maturity onset diabetes mellitus in young [RCV002465620]|Maturity-onset diabetes of the young type 1 [RCV000311464]|not provided [RCV001653634] Chr20:44429907 [GRCh38]
Chr20:43058547 [GRCh37]
Chr20:20q13.12
benign|likely benign
NM_175914.5(HNF4A):c.*1783G>T single nucleotide variant Familial hyperinsulinism [RCV000389356]|Maturity-onset diabetes of the young type 1 [RCV000276200] Chr20:44431448 [GRCh38]
Chr20:43060088 [GRCh37]
Chr20:20q13.12
benign|uncertain significance
NM_175914.5(HNF4A):c.*2374G>C single nucleotide variant Familial hyperinsulinism [RCV000275486]|Maturity-onset diabetes of the young type 1 [RCV000330547] Chr20:44432039 [GRCh38]
Chr20:43060679 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.*3153C>A single nucleotide variant Familial hyperinsulinism [RCV000276652]|Maturity-onset diabetes of the young type 1 [RCV000315396] Chr20:44432818 [GRCh38]
Chr20:43061458 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.*271C>T single nucleotide variant Familial hyperinsulinism [RCV000406835]|Maturity-onset diabetes of the young type 1 [RCV000315063] Chr20:44429936 [GRCh38]
Chr20:43058576 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.*2366G>C single nucleotide variant Familial hyperinsulinism [RCV000370105]|Maturity-onset diabetes of the young type 1 [RCV000315360] Chr20:44432031 [GRCh38]
Chr20:43060671 [GRCh37]
Chr20:20q13.12
benign|likely benign
NM_175914.5(HNF4A):c.*1078G>A single nucleotide variant Familial hyperinsulinism [RCV000278245]|Maturity-onset diabetes of the young type 1 [RCV000351884] Chr20:44430743 [GRCh38]
Chr20:43059383 [GRCh37]
Chr20:20q13.12
likely benign|uncertain significance
NM_175914.5(HNF4A):c.*2678dup duplication Hyperinsulinism, Dominant [RCV000363471]|Maturity onset diabetes mellitus in young [RCV000308831] Chr20:44432342..44432343 [GRCh38]
Chr20:43060982..43060983 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.*1616G>A single nucleotide variant Familial hyperinsulinism [RCV000317323]|Maturity-onset diabetes of the young type 1 [RCV000262091] Chr20:44431281 [GRCh38]
Chr20:43059921 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.*76G>A single nucleotide variant Familial hyperinsulinism [RCV000281626]|Maturity-onset diabetes of the young type 1 [RCV000373794] Chr20:44429741 [GRCh38]
Chr20:43058381 [GRCh37]
Chr20:20q13.12
benign|uncertain significance
NM_175914.5(HNF4A):c.*521G>A single nucleotide variant Familial hyperinsulinism [RCV000339008]|Maturity onset diabetes mellitus in young [RCV002465622]|Maturity-onset diabetes of the young type 1 [RCV000283929]|not provided [RCV001778928] Chr20:44430186 [GRCh38]
Chr20:43058826 [GRCh37]
Chr20:20q13.12
benign|likely benign|uncertain significance
NM_175914.5(HNF4A):c.*446G>A single nucleotide variant Familial hyperinsulinism [RCV000378593]|Maturity-onset diabetes of the young type 1 [RCV000324060] Chr20:44430111 [GRCh38]
Chr20:43058751 [GRCh37]
Chr20:20q13.12
benign|uncertain significance
NM_175914.5(HNF4A):c.*3024C>T single nucleotide variant Familial hyperinsulinism [RCV000274252]|Maturity-onset diabetes of the young type 1 [RCV000331657] Chr20:44432689 [GRCh38]
Chr20:43061329 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.*155G>A single nucleotide variant Familial hyperinsulinism [RCV000285521]|Maturity onset diabetes mellitus in young [RCV002465619]|Maturity-onset diabetes of the young type 1 [RCV000342798]|not provided [RCV001707665] Chr20:44429820 [GRCh38]
Chr20:43058460 [GRCh37]
Chr20:20q13.12
benign|likely benign
NM_175914.5(HNF4A):c.*393G>A single nucleotide variant Familial hyperinsulinism [RCV000287603]|Maturity-onset diabetes of the young type 1 [RCV000382056] Chr20:44430058 [GRCh38]
Chr20:43058698 [GRCh37]
Chr20:20q13.12
benign|likely benign
NM_175914.5(HNF4A):c.*305A>G single nucleotide variant Familial hyperinsulinism [RCV000331180]|Maturity onset diabetes mellitus in young [RCV002465621]|Maturity-onset diabetes of the young type 1 [RCV000367128]|not provided [RCV001539542] Chr20:44429970 [GRCh38]
Chr20:43058610 [GRCh37]
Chr20:20q13.12
benign|likely benign
NM_175914.5(HNF4A):c.*3068C>T single nucleotide variant Familial hyperinsulinism [RCV000383959]|Maturity-onset diabetes of the young type 1 [RCV000291967] Chr20:44432733 [GRCh38]
Chr20:43061373 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.*1828G>A single nucleotide variant Familial hyperinsulinism [RCV000291358]|Maturity-onset diabetes of the young type 1 [RCV000346311] Chr20:44431493 [GRCh38]
Chr20:43060133 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.*700T>C single nucleotide variant Familial hyperinsulinism [RCV000398865]|Maturity onset diabetes mellitus in young [RCV002465623]|Maturity-onset diabetes of the young type 1 [RCV000335279]|not provided [RCV001636945] Chr20:44430365 [GRCh38]
Chr20:43059005 [GRCh37]
Chr20:20q13.12
benign|likely benign
NM_175914.5(HNF4A):c.*3013A>G single nucleotide variant Familial hyperinsulinism [RCV000356633]|Maturity-onset diabetes of the young type 1 [RCV000259466] Chr20:44432678 [GRCh38]
Chr20:43061318 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.224+17dup duplication Hyperinsulinism, Dominant [RCV000387464]|Maturity onset diabetes mellitus in young [RCV000295478]|not provided [RCV000838670]|not specified [RCV001264430] Chr20:44406246..44406247 [GRCh38]
Chr20:43034886..43034887 [GRCh37]
Chr20:20q13.12
benign|likely benign|uncertain significance
NM_175914.5(HNF4A):c.*3143G>T single nucleotide variant Familial hyperinsulinism [RCV000354927]|Maturity-onset diabetes of the young type 1 [RCV000297757] Chr20:44432808 [GRCh38]
Chr20:43061448 [GRCh37]
Chr20:20q13.12
benign|likely benign
NM_175914.5(HNF4A):c.*3086C>T single nucleotide variant Familial hyperinsulinism [RCV000382918]|Maturity-onset diabetes of the young type 1 [RCV000344628]|not provided [RCV002263616] Chr20:44432751 [GRCh38]
Chr20:43061391 [GRCh37]
Chr20:20q13.12
benign|uncertain significance
NM_175914.5(HNF4A):c.*965G>T single nucleotide variant Familial hyperinsulinism [RCV000267363]|Maturity-onset diabetes of the young type 1 [RCV000322431] Chr20:44430630 [GRCh38]
Chr20:43059270 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.*977C>G single nucleotide variant Familial hyperinsulinism [RCV000377018]|Maturity-onset diabetes of the young type 1 [RCV000263752] Chr20:44430642 [GRCh38]
Chr20:43059282 [GRCh37]
Chr20:20q13.12
likely benign|uncertain significance
NM_175914.5(HNF4A):c.50-4753G>A single nucleotide variant Familial hyperinsulinism [RCV000357807]|Maturity-onset diabetes of the young type 1 [RCV000300699]|not provided [RCV002520013] Chr20:44401305 [GRCh38]
Chr20:43029945 [GRCh37]
Chr20:20q13.12
likely benign|uncertain significance
NM_175914.5(HNF4A):c.*2779A>C single nucleotide variant Familial hyperinsulinism [RCV000345156]|Maturity-onset diabetes of the young type 1 [RCV000399673] Chr20:44432444 [GRCh38]
Chr20:43061084 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.*3018G>A single nucleotide variant Familial hyperinsulinism [RCV000316939]|Maturity-onset diabetes of the young type 1 [RCV000387791] Chr20:44432683 [GRCh38]
Chr20:43061323 [GRCh37]
Chr20:20q13.12
benign|uncertain significance
NM_175914.5(HNF4A):c.50-4700G>A single nucleotide variant Familial hyperinsulinism [RCV000304160]|Maturity-onset diabetes of the young type 1 [RCV000265360] Chr20:44401358 [GRCh38]
Chr20:43029998 [GRCh37]
Chr20:20q13.12
likely benign|uncertain significance
NM_175914.5(HNF4A):c.*1132C>T single nucleotide variant Familial hyperinsulinism [RCV000265512]|Maturity-onset diabetes of the young type 1 [RCV000360104]|not provided [RCV001660708] Chr20:44430797 [GRCh38]
Chr20:43059437 [GRCh37]
Chr20:20q13.12
benign|likely benign
NM_175914.5(HNF4A):c.*2992C>T single nucleotide variant Familial hyperinsulinism [RCV000265154]|Maturity-onset diabetes of the young type 1 [RCV000299208] Chr20:44432657 [GRCh38]
Chr20:43061297 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.*1291TCCTCCCT[1] microsatellite Hyperinsulinism, Dominant [RCV000302022]|Maturity onset diabetes mellitus in young [RCV000356823]|not provided [RCV001613109] Chr20:44430956..44430963 [GRCh38]
Chr20:43059596..43059603 [GRCh37]
Chr20:20q13.12
benign|likely benign|conflicting interpretations of pathogenicity
NM_175914.5(HNF4A):c.*1087G>C single nucleotide variant Familial hyperinsulinism [RCV000348252]|Maturity-onset diabetes of the young type 1 [RCV000401692] Chr20:44430752 [GRCh38]
Chr20:43059392 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.*2676dup duplication Hyperinsulinism, Dominant [RCV000335237]|Maturity onset diabetes mellitus in young [RCV000280210] Chr20:44432340..44432341 [GRCh38]
Chr20:43060980..43060981 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.*1106G>A single nucleotide variant Familial hyperinsulinism [RCV000392322]|Maturity-onset diabetes of the young type 1 [RCV000305498] Chr20:44430771 [GRCh38]
Chr20:43059411 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.726G>A (p.Val242=) single nucleotide variant Hyperinsulinism, Dominant [RCV000305735]|Maturity onset diabetes mellitus in young [RCV000362810]|not provided [RCV000924601]|not specified [RCV001821020] Chr20:44419776 [GRCh38]
Chr20:43048416 [GRCh37]
Chr20:20q13.12
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_175914.5(HNF4A):c.321C>T (p.Ala107=) single nucleotide variant Familial hyperinsulinism [RCV000372305]|Maturity-onset diabetes of the young type 1 [RCV000352627]|Monogenic diabetes [RCV003126676] Chr20:44413695 [GRCh38]
Chr20:43042335 [GRCh37]
Chr20:20q13.12
likely benign|uncertain significance
NM_175914.5(HNF4A):c.*2679del deletion Hyperinsulinism, Dominant [RCV000268803]|Maturity onset diabetes mellitus in young [RCV000323970] Chr20:44432344 [GRCh38]
Chr20:43060984 [GRCh37]
Chr20:20q13.12
uncertain significance
GRCh37/hg19 20q13.12(chr20:42818852-43180449)x3 copy number gain not provided [RCV000584982] Chr20:42818852..43180449 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.582+42C>T single nucleotide variant not provided [RCV001574302] Chr20:44414704 [GRCh38]
Chr20:43043344 [GRCh37]
Chr20:20q13.12
likely benign
NM_175914.5(HNF4A):c.787G>C (p.Glu263Gln) single nucleotide variant Maturity-onset diabetes of the young type 1 [RCV002285538] Chr20:44419837 [GRCh38]
Chr20:43048477 [GRCh37]
Chr20:20q13.12
likely pathogenic
NM_175914.5(HNF4A):c.426+175G>A single nucleotide variant not provided [RCV001546246] Chr20:44413975 [GRCh38]
Chr20:43042615 [GRCh37]
Chr20:20q13.12
likely benign
NM_175914.5(HNF4A):c.335G>A (p.Arg112Gln) single nucleotide variant Maturity-onset diabetes of the young type 1 [RCV002285340]|not provided [RCV000489797] Chr20:44413709 [GRCh38]
Chr20:43042349 [GRCh37]
Chr20:20q13.12
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_175914.5(HNF4A):c.498T>A (p.Cys166Ter) single nucleotide variant Inborn genetic diseases [RCV000623599]|Maturity onset diabetes mellitus in young [RCV002334036] Chr20:44414578 [GRCh38]
Chr20:43043218 [GRCh37]
Chr20:20q13.12
pathogenic
NM_175914.5(HNF4A):c.*765G>A single nucleotide variant Familial hyperinsulinism [RCV000314111]|Maturity-onset diabetes of the young type 1 [RCV000368847] Chr20:44430430 [GRCh38]
Chr20:43059070 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.*2167T>G single nucleotide variant Familial hyperinsulinism [RCV000302930]|Maturity-onset diabetes of the young type 1 [RCV000339208] Chr20:44431832 [GRCh38]
Chr20:43060472 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.*3120T>C single nucleotide variant Familial hyperinsulinism [RCV000303861]|Maturity-onset diabetes of the young type 1 [RCV000399440] Chr20:44432785 [GRCh38]
Chr20:43061425 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.*1821C>T single nucleotide variant Familial hyperinsulinism [RCV000331239]|Maturity-onset diabetes of the young type 1 [RCV000385730] Chr20:44431486 [GRCh38]
Chr20:43060126 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.*226C>A single nucleotide variant Familial hyperinsulinism [RCV000401329]|Maturity-onset diabetes of the young type 1 [RCV000346408] Chr20:44429891 [GRCh38]
Chr20:43058531 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.*2796AC[1] microsatellite Hyperinsulinism, Dominant [RCV000305230]|Maturity onset diabetes mellitus in young [RCV000357699] Chr20:44432461..44432462 [GRCh38]
Chr20:43061101..43061102 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.*2707dup duplication Hyperinsulinism, Dominant [RCV000293779]|Maturity onset diabetes mellitus in young [RCV000346377] Chr20:44432371..44432372 [GRCh38]
Chr20:43061011..43061012 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.*2639T>G single nucleotide variant Familial hyperinsulinism [RCV000283806]|Maturity-onset diabetes of the young type 1 [RCV000378297] Chr20:44432304 [GRCh38]
Chr20:43060944 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.*2698_*2704del deletion Hyperinsulinism, Dominant [RCV000371923]|Maturity onset diabetes mellitus in young [RCV000295090] Chr20:44432363..44432369 [GRCh38]
Chr20:43061003..43061009 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.*2777del deletion Hyperinsulinism, Dominant [RCV000402368]|Maturity onset diabetes mellitus in young [RCV000306528] Chr20:44432440 [GRCh38]
Chr20:43061080 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.*987G>T single nucleotide variant Familial hyperinsulinism [RCV000318807]|Maturity-onset diabetes of the young type 1 [RCV000373512] Chr20:44430652 [GRCh38]
Chr20:43059292 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.*2677dup duplication Hyperinsulinism, Dominant [RCV000366968]|Maturity onset diabetes mellitus in young [RCV000408300] Chr20:44432341..44432342 [GRCh38]
Chr20:43060981..43060982 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.*2703del deletion Hyperinsulinism, Dominant [RCV000320646]|Maturity onset diabetes mellitus in young [RCV000375235] Chr20:44432345 [GRCh38]
Chr20:43060985 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.50-4791_50-4788del microsatellite Hyperinsulinism, Dominant [RCV000391828]|Maturity onset diabetes mellitus in young [RCV000336170] Chr20:44401263..44401266 [GRCh38]
Chr20:43029903..43029906 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.*3104A>C single nucleotide variant Familial hyperinsulinism [RCV000342997]|Maturity-onset diabetes of the young type 1 [RCV000285714] Chr20:44432769 [GRCh38]
Chr20:43061409 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.*3142del deletion Hyperinsulinism, Dominant [RCV000337648]|Maturity onset diabetes mellitus in young [RCV000401413] Chr20:44432804 [GRCh38]
Chr20:43061444 [GRCh37]
Chr20:20q13.12
likely benign
NM_175914.5(HNF4A):c.*2707del deletion Hyperinsulinism, Dominant [RCV000393199]|Maturity onset diabetes mellitus in young [RCV000352294] Chr20:44432372 [GRCh38]
Chr20:43061012 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.*2674_*2675del deletion Hyperinsulinism, Dominant [RCV000395129]|Maturity onset diabetes mellitus in young [RCV000338731] Chr20:44432338..44432339 [GRCh38]
Chr20:43060978..43060979 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.624C>T (p.Leu208=) single nucleotide variant Familial hyperinsulinism [RCV001143700]|Maturity onset diabetes mellitus in young [RCV002368064]|Maturity-onset diabetes of the young type 1 [RCV001137143]|not provided [RCV000894472]|not specified [RCV000603592] Chr20:44418466 [GRCh38]
Chr20:43047106 [GRCh37]
Chr20:20q13.12
benign|likely benign|uncertain significance
NM_175914.5(HNF4A):c.*2600T>C single nucleotide variant Hyperinsulinism, Dominant [RCV000287423]|Maturity onset diabetes mellitus in young [RCV000323682] Chr20:44432265 [GRCh38]
Chr20:43060905 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.*782G>A single nucleotide variant Familial hyperinsulinism [RCV000310769]|Maturity-onset diabetes of the young type 1 [RCV000391969] Chr20:44430447 [GRCh38]
Chr20:43059087 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.*2677_*2683del deletion Hyperinsulinism, Dominant [RCV000312287]|Maturity onset diabetes mellitus in young [RCV000398614] Chr20:44432341..44432347 [GRCh38]
Chr20:43060981..43060987 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.*2558T>C single nucleotide variant Familial hyperinsulinism [RCV000381804]|Maturity-onset diabetes of the young type 1 [RCV000327149] Chr20:44432223 [GRCh38]
Chr20:43060863 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.826+79C>T single nucleotide variant not specified [RCV000517003] Chr20:44419955 [GRCh38]
Chr20:43048595 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.481A>G (p.Ser161Gly) single nucleotide variant Familial hyperinsulinism [RCV001141898]|Maturity-onset diabetes of the young type 1 [RCV001143693]|not provided [RCV000585597] Chr20:44414561 [GRCh38]
Chr20:43043201 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.188G>A (p.Arg63Gln) single nucleotide variant not provided [RCV000414001] Chr20:44406196 [GRCh38]
Chr20:43034836 [GRCh37]
Chr20:20q13.12
likely pathogenic
NM_175914.5(HNF4A):c.640T>A (p.Ser214Thr) single nucleotide variant Maturity-onset diabetes of the young type 1 [RCV000449632] Chr20:44418482 [GRCh38]
Chr20:43047122 [GRCh37]
Chr20:20q13.12
likely pathogenic
GRCh37/hg19 20q13.12(chr20:43016840-43153243)x1 copy number loss See cases [RCV000446346] Chr20:43016840..43153243 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.844G>A (p.Asp282Asn) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002446763]|Maturity-onset diabetes of the young type 1 [RCV002481356]|Monogenic diabetes [RCV000445391]|not specified [RCV000517930] Chr20:44424035 [GRCh38]
Chr20:43052675 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.224+2T>C single nucleotide variant not provided [RCV000434164] Chr20:44406234 [GRCh38]
Chr20:43034874 [GRCh37]
Chr20:20q13.12
pathogenic|likely pathogenic
NM_175914.5(HNF4A):c.582+20G>C single nucleotide variant not provided [RCV002223206]|not specified [RCV000423354] Chr20:44414682 [GRCh38]
Chr20:43043322 [GRCh37]
Chr20:20q13.12
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_175914.5(HNF4A):c.926G>A (p.Arg309His) single nucleotide variant Maturity-onset diabetes of the young type 1 [RCV002285339]|not provided [RCV000483537] Chr20:44424117 [GRCh38]
Chr20:43052757 [GRCh37]
Chr20:20q13.12
likely pathogenic|uncertain significance
NM_175914.5(HNF4A):c.470AGA[1] (p.Lys158del) microsatellite Maturity onset diabetes mellitus in young [RCV002222538]|Maturity-onset diabetes of the young type 1 [RCV000501220] Chr20:44414548..44414550 [GRCh38]
Chr20:43043188..43043190 [GRCh37]
Chr20:20q13.12
likely pathogenic
NR_184036.1(R3HDML-AS1):n.3A>G single nucleotide variant not specified [RCV000503346] Chr20:44355240 [GRCh38]
Chr20:42983880 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.906C>T (p.Asn302=) single nucleotide variant not specified [RCV000501332] Chr20:44424097 [GRCh38]
Chr20:43052737 [GRCh37]
Chr20:20q13.12
likely benign
NM_175914.5(HNF4A):c.1177G>A (p.Gly393Arg) single nucleotide variant Maturity-onset diabetes of the young type 1 [RCV002506226]|not specified [RCV000501691] Chr20:44428448 [GRCh38]
Chr20:43057088 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.200G>A (p.Arg67Gln) single nucleotide variant Hyperinsulinism due to HNF4A deficiency [RCV000504202]|Maturity onset diabetes mellitus in young [RCV002282183]|Maturity-onset diabetes of the young type 1 [RCV002285346]|not provided [RCV000992160] Chr20:44406208 [GRCh38]
Chr20:43034848 [GRCh37]
Chr20:20q13.12
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_175914.5(HNF4A):c.944TGC[6] (p.Leu319dup) microsatellite Hyperinsulinism due to HNF4A deficiency [RCV000499584]|Maturity-onset diabetes of the young type 1 [RCV002490833]|not provided [RCV001268775] Chr20:44424132..44424133 [GRCh38]
Chr20:43052772..43052773 [GRCh37]
Chr20:20q13.12
likely pathogenic
NM_175914.4(HNF4A):c.-276G>T single nucleotide variant not specified [RCV000504496] Chr20:44355529 [GRCh38]
Chr20:42984169 [GRCh37]
Chr20:20q13.12
benign
NM_175914.5(HNF4A):c.-83C>T single nucleotide variant not specified [RCV000500159] Chr20:44355722 [GRCh38]
Chr20:42984362 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.4(HNF4A):c.-401G>A single nucleotide variant not provided [RCV001591139]|not specified [RCV000500270] Chr20:44355404 [GRCh38]
Chr20:42984044 [GRCh37]
Chr20:20q13.12
likely benign|uncertain significance
NM_175914.4(HNF4A):c.-278G>A single nucleotide variant not provided [RCV001591140]|not specified [RCV000502426] Chr20:44355527 [GRCh38]
Chr20:42984167 [GRCh37]
Chr20:20q13.12
benign|likely benign|uncertain significance
NM_175914.5(HNF4A):c.740T>C (p.Leu247Pro) single nucleotide variant Maturity-onset diabetes of the young type 1 [RCV000502655]|not provided [RCV001755742] Chr20:44419790 [GRCh38]
Chr20:43048430 [GRCh37]
Chr20:20q13.12
likely pathogenic|uncertain significance
NM_175914.5(HNF4A):c.224G>A (p.Arg75Lys) single nucleotide variant Maturity-onset diabetes of the young type 1 [RCV000495952] Chr20:44406232 [GRCh38]
Chr20:43034872 [GRCh37]
Chr20:20q13.12
uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 copy number gain See cases [RCV000510832] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33
pathogenic
NM_175914.5(HNF4A):c.1064-19C>A single nucleotide variant not provided [RCV001718905] Chr20:44428316 [GRCh38]
Chr20:43056956 [GRCh37]
Chr20:20q13.12
likely benign
NM_175914.5(HNF4A):c.221G>A (p.Cys74Tyr) single nucleotide variant Inborn genetic diseases [RCV000622730] Chr20:44406229 [GRCh38]
Chr20:43034869 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.138G>A (p.Thr46=) single nucleotide variant Familial hyperinsulinism [RCV001137029]|Maturity onset diabetes mellitus in young [RCV002395578]|Maturity-onset diabetes of the young type 1 [RCV001139276]|not provided [RCV002063877]|not specified [RCV000614639] Chr20:44406146 [GRCh38]
Chr20:43034786 [GRCh37]
Chr20:20q13.12
benign|likely benign
NM_175914.5(HNF4A):c.1064-19C>T single nucleotide variant not provided [RCV002531657]|not specified [RCV000614712] Chr20:44428316 [GRCh38]
Chr20:43056956 [GRCh37]
Chr20:20q13.12
likely benign
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) copy number gain See cases [RCV000512450] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33
pathogenic
NM_175914.5(HNF4A):c.100del (p.Val34fs) deletion not provided [RCV000627652] Chr20:44406108 [GRCh38]
Chr20:43034748 [GRCh37]
Chr20:20q13.12
pathogenic
NM_175914.5(HNF4A):c.195C>A (p.Ser65Arg) single nucleotide variant not provided [RCV000658380] Chr20:44406203 [GRCh38]
Chr20:43034843 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.427-1G>A single nucleotide variant Maturity-onset diabetes of the young type 1 [RCV000714521]|Maturity-onset diabetes of the young type 1 [RCV002499300] Chr20:44414506 [GRCh38]
Chr20:43043146 [GRCh37]
Chr20:20q13.12
pathogenic|likely pathogenic
NM_175914.5(HNF4A):c.658G>A (p.Val220Met) single nucleotide variant not provided [RCV000681822] Chr20:44418500 [GRCh38]
Chr20:43047140 [GRCh37]
Chr20:20q13.12
likely pathogenic
NM_175914.5(HNF4A):c.123C>T (p.Cys41=) single nucleotide variant Monogenic diabetes [RCV003126917]|not provided [RCV000711954] Chr20:44406131 [GRCh38]
Chr20:43034771 [GRCh37]
Chr20:20q13.12
benign|likely benign
NM_175914.5(HNF4A):c.369G>A (p.Glu123=) single nucleotide variant not provided [RCV000711956] Chr20:44413743 [GRCh38]
Chr20:43042383 [GRCh37]
Chr20:20q13.12
benign
NM_175914.5(HNF4A):c.670+5G>C single nucleotide variant not provided [RCV000711963] Chr20:44418517 [GRCh38]
Chr20:43047157 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.789G>C (p.Glu263Asp) single nucleotide variant not provided [RCV000711964] Chr20:44419839 [GRCh38]
Chr20:43048479 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.925C>A (p.Arg309Ser) single nucleotide variant not provided [RCV000711965] Chr20:44424116 [GRCh38]
Chr20:43052756 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.932G>A (p.Arg311His) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002369982]|Maturity-onset diabetes of the young type 1 [RCV000754815]|not provided [RCV000711966] Chr20:44424123 [GRCh38]
Chr20:43052763 [GRCh37]
Chr20:20q13.12
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_175914.5(HNF4A):c.953T>A (p.Leu318Gln) single nucleotide variant not provided [RCV000711950] Chr20:44424144 [GRCh38]
Chr20:43052784 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.1017C>T (p.Phe339=) single nucleotide variant Monogenic diabetes [RCV003126916]|not provided [RCV000711951] Chr20:44424208 [GRCh38]
Chr20:43052848 [GRCh37]
Chr20:20q13.12
benign|likely benign
NM_175914.5(HNF4A):c.1063G>A (p.Gly355Arg) single nucleotide variant not provided [RCV000711952] Chr20:44424254 [GRCh38]
Chr20:43052894 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.53C>T (p.Thr18Met) single nucleotide variant Maturity-onset diabetes of the young type 1 [RCV000764240]|not provided [RCV000711953] Chr20:44406061 [GRCh38]
Chr20:43034701 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.408G>A (p.Ala136=) single nucleotide variant Monogenic diabetes [RCV003126918]|not provided [RCV000711957] Chr20:44413782 [GRCh38]
Chr20:43042422 [GRCh37]
Chr20:20q13.12
benign|likely benign
NM_175914.5(HNF4A):c.427A>G (p.Ile143Val) single nucleotide variant Maturity-onset diabetes of the young type 1 [RCV002477645]|not provided [RCV000711959] Chr20:44414507 [GRCh38]
Chr20:43043147 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.576C>T (p.Asp192=) single nucleotide variant Maturity-onset diabetes of the young type 1 [RCV002477646]|not provided [RCV000711960] Chr20:44414656 [GRCh38]
Chr20:43043296 [GRCh37]
Chr20:20q13.12
benign|likely benign
NM_175914.5(HNF4A):c.583-27G>A single nucleotide variant not provided [RCV000711961] Chr20:44418398 [GRCh38]
Chr20:43047038 [GRCh37]
Chr20:20q13.12
benign|likely benign
NM_175914.5(HNF4A):c.593T>G (p.Leu198Arg) single nucleotide variant not provided [RCV000711962] Chr20:44418435 [GRCh38]
Chr20:43047075 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.863G>A (p.Arg288Gln) single nucleotide variant Familial hyperinsulinism [RCV001139379]|Maturity-onset diabetes of the young type 1 [RCV000779347]|not specified [RCV001526903] Chr20:44424054 [GRCh38]
Chr20:43052694 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.1del (p.Met1fs) deletion Maturity-onset diabetes of the young type 1 [RCV001730177] Chr20:44355805 [GRCh38]
Chr20:42984445 [GRCh37]
Chr20:20q13.12
likely pathogenic
NM_175914.5(HNF4A):c.48C>G (p.Tyr16Ter) single nucleotide variant Maturity-onset diabetes of the young type 1 [RCV001730179] Chr20:44355852 [GRCh38]
Chr20:42984492 [GRCh37]
Chr20:20q13.12
pathogenic
NM_175914.5(HNF4A):c.-181G>C single nucleotide variant Maturity-onset diabetes of the young type 1 [RCV001730180] Chr20:44355624 [GRCh38]
Chr20:42984264 [GRCh37]
Chr20:20q13.12
pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 copy number gain not provided [RCV000741058] Chr20:63244..62948788 [GRCh37]
Chr20:20p13-q13.33
pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 copy number gain not provided [RCV000741059] Chr20:63244..62961294 [GRCh37]
Chr20:20p13-q13.33
pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 copy number gain not provided [RCV000741057] Chr20:63244..62912463 [GRCh37]
Chr20:20p13-q13.33
pathogenic
NM_175914.5(HNF4A):c.319+283TG[16] microsatellite not provided [RCV001548151] Chr20:44407758..44407759 [GRCh38]
Chr20:43036398..43036399 [GRCh37]
Chr20:20q13.12
likely benign
NM_175914.5(HNF4A):c.265C>T (p.Gln89Ter) single nucleotide variant Maturity-onset diabetes of the young type 1 [RCV000754819] Chr20:44407421 [GRCh38]
Chr20:43036061 [GRCh37]
Chr20:20q13.12
pathogenic
NM_175914.5(HNF4A):c.50-5034T>C single nucleotide variant not provided [RCV001669297] Chr20:44401024 [GRCh38]
Chr20:43029664 [GRCh37]
Chr20:20q13.12
benign
NM_175914.5(HNF4A):c.691C>T (p.Arg231Trp) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002368564]|Maturity-onset diabetes of the young type 1 [RCV002285490]|Maturity-onset diabetes of the young type 1 [RCV002488364]|not provided [RCV001545867] Chr20:44419741 [GRCh38]
Chr20:43048381 [GRCh37]
Chr20:20q13.12
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_175914.5(HNF4A):c.319G>A (p.Ala107Thr) single nucleotide variant not provided [RCV001565404] Chr20:44407475 [GRCh38]
Chr20:43036115 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.320-243C>T single nucleotide variant not provided [RCV001565663] Chr20:44413451 [GRCh38]
Chr20:43042091 [GRCh37]
Chr20:20q13.12
likely benign
NM_175914.5(HNF4A):c.201del (p.Lys68fs) deletion Maturity-onset diabetes of the young type 1 [RCV000754810] Chr20:44406208 [GRCh38]
Chr20:43034848 [GRCh37]
Chr20:20q13.12
likely pathogenic
NM_175914.5(HNF4A):c.224+1G>A single nucleotide variant not provided [RCV000992161] Chr20:44406233 [GRCh38]
Chr20:43034873 [GRCh37]
Chr20:20q13.12
pathogenic
NM_175914.5(HNF4A):c.319+2T>C single nucleotide variant not provided [RCV000992163] Chr20:44407477 [GRCh38]
Chr20:43036117 [GRCh37]
Chr20:20q13.12
pathogenic
NM_175914.5(HNF4A):c.869G>A (p.Arg290His) single nucleotide variant Maturity-onset diabetes of the young type 1 [RCV001248988]|not provided [RCV000992167] Chr20:44424060 [GRCh38]
Chr20:43052700 [GRCh37]
Chr20:20q13.12
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_175914.5(HNF4A):c.282G>A (p.Arg94=) single nucleotide variant not provided [RCV000904942] Chr20:44407438 [GRCh38]
Chr20:43036078 [GRCh37]
Chr20:20q13.12
likely benign
NM_175914.5(HNF4A):c.489A>G (p.Ala163=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002336918]|not provided [RCV000924707] Chr20:44414569 [GRCh38]
Chr20:43043209 [GRCh37]
Chr20:20q13.12
likely benign
NM_175914.5(HNF4A):c.582+4A>G single nucleotide variant Familial hyperinsulinism [RCV001143696]|Maturity onset diabetes mellitus in young [RCV002227227]|Maturity-onset diabetes of the young type 1 [RCV001143697]|not provided [RCV000926146]|not specified [RCV001664552] Chr20:44414666 [GRCh38]
Chr20:43043306 [GRCh37]
Chr20:20q13.12
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_175914.5(HNF4A):c.225-8C>T single nucleotide variant not provided [RCV000903094] Chr20:44407373 [GRCh38]
Chr20:43036013 [GRCh37]
Chr20:20q13.12
likely benign
NM_175914.5(HNF4A):c.791A>G (p.Tyr264Cys) single nucleotide variant Maturity-onset diabetes of the young type 1 [RCV001249066]|Maturity-onset diabetes of the young type 1 [RCV002487615]|not provided [RCV000782229] Chr20:44419841 [GRCh38]
Chr20:43048481 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.726G>C (p.Val242=) single nucleotide variant not provided [RCV000937768] Chr20:44419776 [GRCh38]
Chr20:43048416 [GRCh37]
Chr20:20q13.12
likely benign
NM_175914.5(HNF4A):c.1217-145T>C single nucleotide variant not provided [RCV000836353] Chr20:44429378 [GRCh38]
Chr20:43058018 [GRCh37]
Chr20:20q13.12
benign
NM_175914.5(HNF4A):c.1217-151A>C single nucleotide variant not provided [RCV000836354] Chr20:44429372 [GRCh38]
Chr20:43058012 [GRCh37]
Chr20:20q13.12
benign
NM_175914.5(HNF4A):c.733C>T (p.Arg245Cys) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002382225]|not provided [RCV000992166]|not specified [RCV001420860] Chr20:44419783 [GRCh38]
Chr20:43048423 [GRCh37]
Chr20:20q13.12
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_175914.5(HNF4A):c.224+266C>T single nucleotide variant not provided [RCV000826377] Chr20:44406498 [GRCh38]
Chr20:43035138 [GRCh37]
Chr20:20q13.12
benign
NM_175914.5(HNF4A):c.50-4538G>A single nucleotide variant not provided [RCV000833677] Chr20:44401520 [GRCh38]
Chr20:43030160 [GRCh37]
Chr20:20q13.12
benign
NM_175914.5(HNF4A):c.427-96C>G single nucleotide variant not provided [RCV000833679] Chr20:44414411 [GRCh38]
Chr20:43043051 [GRCh37]
Chr20:20q13.12
benign
NM_175914.5(HNF4A):c.427-52G>A single nucleotide variant not provided [RCV000833680] Chr20:44414455 [GRCh38]
Chr20:43043095 [GRCh37]
Chr20:20q13.12
benign
NM_175914.5(HNF4A):c.670+141A>G single nucleotide variant not provided [RCV000836348] Chr20:44418653 [GRCh38]
Chr20:43047293 [GRCh37]
Chr20:20q13.12
benign
NM_175914.5(HNF4A):c.670+196G>A single nucleotide variant not provided [RCV000836349] Chr20:44418708 [GRCh38]
Chr20:43047348 [GRCh37]
Chr20:20q13.12
benign
NM_175914.5(HNF4A):c.826+169A>G single nucleotide variant not provided [RCV000836350] Chr20:44420045 [GRCh38]
Chr20:43048685 [GRCh37]
Chr20:20q13.12
benign
NM_175914.5(HNF4A):c.827-88T>C single nucleotide variant not provided [RCV000836351] Chr20:44423930 [GRCh38]
Chr20:43052570 [GRCh37]
Chr20:20q13.12
benign
NM_175914.5(HNF4A):c.1217-67C>G single nucleotide variant not provided [RCV000836355] Chr20:44429456 [GRCh38]
Chr20:43058096 [GRCh37]
Chr20:20q13.12
benign
NM_175914.5(HNF4A):c.50-4263G>A single nucleotide variant not provided [RCV000826376] Chr20:44401795 [GRCh38]
Chr20:43030435 [GRCh37]
Chr20:20q13.12
benign
NM_175914.5(HNF4A):c.224+288G>C single nucleotide variant not provided [RCV000826378] Chr20:44406520 [GRCh38]
Chr20:43035160 [GRCh37]
Chr20:20q13.12
benign
NM_175914.5(HNF4A):c.50-4630T>C single nucleotide variant Familial hyperinsulinism [RCV001137027]|Maturity-onset diabetes of the young type 1 [RCV001137028] Chr20:44401428 [GRCh38]
Chr20:43030068 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.*2761G>C single nucleotide variant Familial hyperinsulinism [RCV001137696]|Maturity-onset diabetes of the young type 1 [RCV001137695] Chr20:44432426 [GRCh38]
Chr20:43061066 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_175914.5(HNF4A):c.999C>T (p.Ile333=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002382087]|Maturity-onset diabetes of the young type 1 [RCV002505362]|not provided [RCV000920765] Chr20:44424190 [GRCh38]
Chr20:43052830 [GRCh37]
Chr20:20q13.12
benign|likely benign
NM_175914.5(HNF4A):c.320-204C>G single nucleotide variant not provided [RCV000836376] Chr20:44413490 [GRCh38]
Chr20:430421