UGT1A1 (UDP glucuronosyltransferase family 1 member A1) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: UGT1A1 (UDP glucuronosyltransferase family 1 member A1) Homo sapiens
Analyze
Symbol: UGT1A1
Name: UDP glucuronosyltransferase family 1 member A1
RGD ID: 1350018
HGNC Page HGNC:12530
Description: Enables several functions, including glucuronosyltransferase activity; protein dimerization activity; and retinoic acid binding activity. Involved in several processes, including cellular glucuronidation; estrogen metabolic process; and negative regulation of cellular glucuronidation. Located in endoplasmic reticulum. Implicated in several diseases, including bilirubin metabolic disorder (multiple); cholecystolithiasis; cholelithiasis; female reproductive organ cancer (multiple); and hepatitis B.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BILIQTL1; bilirubin UDP-glucuronosyltranserase; bilirubin UDP-glucuronosyltransferase 1-1; bilirubin UDP-glucuronosyltransferase isozyme 1; bilirubin-specific UDPGT isozyme 1; GNT1; HUG-BR1; truncated UDP-glucuronosyltransferase 1A1; UDP glucuronosyltransferase 1 family, polypeptide A1; UDP glycosyltransferase 1 family, polypeptide A1; UDP-glucuronosyltransferase 1-1; UDP-glucuronosyltransferase 1-A; UDP-glucuronosyltransferase 1A; UDP-glucuronosyltransferase 1A1; UDPGT; UDPGT 1-1; UGT-1A; UGT1; UGT1*1; UGT1-01; UGT1.1; UGT1A
RGD Orthologs
Mouse
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
GRCh382233,760,270 - 233,773,300 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2233,760,270 - 233,773,300 (+)EnsemblGRCh38hg38GRCh38
GRCh372234,668,916 - 234,681,946 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362234,333,658 - 234,346,684 (+)NCBINCBI36Build 36hg18NCBI36
Build 342234,450,918 - 234,463,945NCBI
Celera2228,389,552 - 228,402,577 (+)NCBICelera
Cytogenetic Map2q37.1NCBI
HuRef2226,468,768 - 226,481,779 (+)NCBIHuRef
CHM1_12234,674,733 - 234,682,899 (+)NCBICHM1_1
T2T-CHM13v2.02234,248,901 - 234,261,929 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (EXP)
(+)-taxifolin  (EXP)
(1->4)-beta-D-glucan  (ISO)
(5Z,8Z,11Z,13E)-15-HETE  (EXP)
(R,R,R)-alpha-tocopherol  (ISO)
(S)-naringenin  (EXP,ISO)
(Z)-ligustilide  (EXP,ISO)
1,4-dioxane  (ISO)
1-Hydroxypyrene  (EXP)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (EXP,ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2',4,4',6'-tetrahydroxychalcone  (EXP)
2',5'-Dihydroxychalcone  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,4,7,8-Pentachlorodibenzofuran  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4,6-trinitrotoluene  (ISO)
2,4,6-Triphenyl-1-hexene  (ISO)
2,4-D  (ISO)
2,4-Dihydroxychalcone  (EXP)
2-hydroxy-17beta-estradiol  (EXP)
2-hydroxyestrone  (EXP)
2-methoxy-17beta-estradiol  (EXP)
2-tert-butylhydroquinone  (ISO)
20-HETE  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3,3',5-triiodo-L-thyronine  (ISO)
3,4,8-Trimethyl-1H,2H,3H-imidazo[4,5-F]quinoxalin-2-imine  (EXP)
3-Hydroxybenzo[a]pyrene  (ISO)
3-methyl-3H-imidazo[4,5-f]quinolin-2-amine  (EXP)
3-methylcholanthrene  (EXP,ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-[(1E)-1,2-diphenylbut-1-en-1-yl]phenol  (EXP)
4-hydroxyestrone  (EXP)
4-hydroxyphenytoin  (EXP)
4-methylumbelliferone  (EXP)
4-methylumbelliferone beta-D-glucuronide  (EXP)
4-nitrophenol  (EXP)
5,7-dihydroxy-4'-methoxyflavone  (EXP,ISO)
5-aza-2'-deoxycytidine  (EXP)
5-fluorouracil  (EXP)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (EXP,ISO)
5-methoxypsoralen  (EXP,ISO)
6-propyl-2-thiouracil  (ISO)
8-Epidiosbulbin E acetate  (ISO)
9-cis-retinoic acid  (ISO)
acetamide  (ISO)
acetylsalicylic acid  (ISO)
afimoxifene  (EXP)
aflatoxin B1  (EXP,ISO)
aldehydo-D-glucose  (ISO)
Alisol B  (ISO)
alizarin  (EXP)
all-trans-retinol  (ISO)
alpha-tocotrienol  (EXP)
amentoflavone  (EXP)
amiodarone  (ISO)
amitriptyline  (ISO)
ammonium chloride  (ISO)
androsterone  (EXP)
Anetholtrithion  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (EXP)
anthraflavic acid  (EXP)
anthrarobin  (EXP)
apigenin  (EXP)
arachidonic acid  (EXP)
aristolochic acid A  (ISO)
Aroclor 1254  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
atrazine  (EXP)
belinostat  (EXP)
benzamidoxime  (EXP)
benzbromarone  (ISO)
benzo[a]pyrene  (EXP,ISO)
bergomottin  (EXP)
beta-naphthoflavone  (EXP,ISO)
beta-tocopherol  (ISO)
beta-tocotrienol  (EXP)
bilirubin IXalpha  (EXP,ISO)
biochanin A  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP)
Boldine  (ISO)
Bropirimine  (EXP)
buprenorphine  (EXP)
buta-1,3-diene  (ISO)
butylated hydroxyanisole  (EXP,ISO)
butyric acid  (EXP)
C.I. Natural Red 20  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
caffeine  (EXP)
calcitriol  (EXP)
calycosin  (EXP)
cannabidiol  (ISO)
cantharidin  (ISO)
capsaicin  (EXP)
carbamazepine  (EXP,ISO)
carvedilol  (EXP)
CGP 52608  (EXP)
chalcones  (ISO)
chenodeoxycholic acid  (EXP,ISO)
chlorogenic acid  (EXP)
chlorpyrifos  (EXP)
chrysen-6-ol  (ISO)
chrysin  (EXP,ISO)
ciprofibrate  (ISO)
cis-caffeic acid  (EXP)
cisplatin  (EXP,ISO)
clofibrate  (ISO)
clofibric acid  (EXP)
Clofop  (EXP)
clomipramine  (ISO)
clotrimazole  (EXP)
clozapine  (EXP)
coumarins  (EXP,ISO)
coumestrol  (EXP)
curcumin  (EXP,ISO)
cycloheximide  (EXP)
cyclosporin A  (EXP)
cylindrospermopsin  (EXP)
cyproconazole  (ISO)
D-glucose  (ISO)
daidzein  (EXP)
decabromodiphenyl ether  (ISO)
delta-tocopherol  (ISO)
delta-tocotrienol  (EXP)
deoxycholic acid  (EXP)
dexamethasone  (EXP,ISO)
diallyl disulfide  (ISO)
Diallyl sulfide  (ISO)
diallyl trisulfide  (ISO)
dibenzo[a,l]pyrene  (EXP)
dibutyl phthalate  (EXP)
diclofenac  (EXP,ISO)
diethylstilbestrol  (EXP)
diflunisal  (EXP)
dioxygen  (EXP)
dipyridamole  (EXP)
diquat  (ISO)
doxorubicin  (ISO)
emodin  (EXP)
endosulfan  (EXP)
entacapone  (EXP)
epoxiconazole  (ISO)
equol  (EXP)
Erucin  (EXP)
estragole  (ISO)
estriol  (EXP)
estrone  (EXP)
ethoxyquin  (ISO)
etoposide  (EXP)
eugenol  (EXP)
ezetimibe  (EXP)
farnesol  (EXP)
felbamate  (ISO)
fenofibrate  (EXP)
fenthion  (ISO)
fipronil  (ISO)
fipronil-sulfone  (ISO)
fisetin  (EXP)
flavanone  (ISO)
flavonoids  (EXP)
flumequine  (ISO)
flunitrazepam  (EXP)
flurbiprofen  (EXP)
formononetin  (EXP)
fructose  (ISO)
fulvestrant  (EXP)
furan  (ISO)
furosemide  (EXP)
fusidic acid  (EXP)
galangin  (EXP)
gamma-hexachlorocyclohexane  (ISO)
gamma-tocopherol  (ISO)
gemfibrozil  (EXP)
genistein  (EXP,ISO)
gentamycin  (ISO)
Ginkgolide A  (EXP)
ginkgolide B  (EXP)
ginsenoside Rg1  (ISO)
glabridin  (EXP)
glucose  (ISO)
glycochenodeoxycholic acid  (EXP)
glycocholic acid  (EXP)
glycodeoxycholic acid  (EXP)
gold atom  (EXP)
gold(0)  (EXP)
Grepafloxacin  (EXP)
griseofulvin  (ISO)
hyperforin  (EXP)
ibuprofen  (EXP,ISO)
imipramine  (ISO)
imperatorin  (EXP,ISO)
indometacin  (EXP)
indoxyl sulfate  (EXP)
inulin  (ISO)
irinotecan  (EXP,ISO)
isoflavones  (EXP,ISO)
isoliquiritigenin  (EXP)
kaempferol  (EXP,ISO)
ketoconazole  (EXP,ISO)
ketoprofen  (EXP)
L-ethionine  (ISO)
labetalol  (EXP)
lansoprazole  (ISO)
leflunomide  (EXP)
Licochalcone A  (EXP)
lithocholic acid  (ISO)
luteolin  (EXP)
LY294002  (EXP)
mangiferin  (EXP)
masoprocol  (EXP)
Meclizine  (ISO)
MeIQx  (EXP)
metazachlor  (ISO)
methidathion  (ISO)
methotrexate  (EXP)
methoxychlor  (EXP)
MK 571  (EXP)
morin  (EXP)
morphine  (EXP)
moxifloxacin  (EXP)
Muraglitazar  (EXP)
myricetin  (EXP)
N-hydroxy-PhIP  (EXP)
N-nitrosodiethylamine  (ISO)
naproxen  (EXP)
Niflumic acid  (EXP)
nilotinib  (EXP)
Nor-9-carboxy-delta9-THC  (EXP)
notoginsenoside R1  (EXP,ISO)
obeticholic acid  (EXP)
ofloxacin  (EXP)
oltipraz  (ISO)
omeprazole  (EXP,ISO)
opicapone  (EXP)
ortho-Aminoazotoluene  (ISO)
osimertinib  (EXP)
oxycodone  (ISO)
paclitaxel  (ISO)
pantoprazole  (ISO)
paracetamol  (EXP,ISO)
parathion  (EXP,ISO)
pectolinarigenin  (EXP)
perfluorobutyric acid  (ISO)
perfluorodecanoic acid  (EXP,ISO)
perfluorododecanoic acid  (EXP)
perfluorohexanesulfonic acid  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (EXP,ISO)
phenacetin  (ISO)
phenanthrene  (ISO)
phenobarbital  (EXP,ISO)
phenylbutazone  (EXP)
phenytoin  (EXP,ISO)
PhIP  (EXP,ISO)
phloretin  (EXP)
phlorizin  (EXP)
Picroside ii  (ISO)
pioglitazone  (EXP)
pirinixic acid  (EXP,ISO)
plumbagin  (EXP)
ponatinib  (EXP)
pregnenolone 16alpha-carbonitrile  (EXP,ISO)
prochloraz  (ISO)
progesterone  (EXP,ISO)
propacetamol  (ISO)
propiconazole  (ISO)
prostaglandin B1  (EXP)
prostaglandin E2  (ISO)
prostaglandin F2alpha  (ISO)
pterostilbene  (EXP)
puerarin  (EXP)
pyrene  (ISO)
quercetin  (EXP,ISO)
quercetin 3-O-beta-D-galactopyranoside  (ISO)
quinizarin  (EXP)
rabeprazole  (ISO)
raloxifene  (EXP)
resveratrol  (EXP,ISO)
retinyl acetate  (ISO)
rifampicin  (EXP)
ritonavir  (EXP)
robinetin  (EXP)
SB 203580  (EXP)
scopoletin  (EXP)
sevoflurane  (ISO)
Shikonin  (EXP,ISO)
silibinin  (EXP,ISO)
Sitafloxacin  (EXP)
sodium acetate trihydrate  (EXP,ISO)
sodium arsenite  (ISO)
sodium propionate  (EXP)
spironolactone  (ISO)
sulforaphane  (EXP)
sulindac  (EXP)
sulindac sulfide  (EXP)
sulindac sulfone  (EXP)
sunitinib  (ISO)
tamoxifen  (ISO)
tangeretin  (ISO)
taurine  (ISO)
tebuconazole  (EXP)
tert-butyl ethyl ether  (ISO)
testosterone  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
thymol  (EXP)
thymol sulfate(1-)  (EXP)
thyroxine  (ISO)
ticlopidine  (EXP)
tienilic acid  (EXP)
trans-caffeic acid  (EXP)
trans-piceid  (EXP)
triadimefon  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triclocarban  (EXP)
triclosan  (EXP,ISO)
trifluralin  (ISO)
troglitazone  (EXP)
tunicamycin  (ISO)
UDP-alpha-D-glucuronic acid  (EXP)
ursodeoxycholic acid  (ISO)
valproic acid  (EXP,ISO)
vorinostat  (EXP)
warfarin  (EXP)
xanthohumol  (EXP)
zearalenone  (EXP)
zinc atom  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. The human UDP-glucuronosyltransferase UGT1A3 is highly selective towards N2 in the tetrazole ring of losartan, candesartan, and zolarsartan. Alonen A, etal., Biochem Pharmacol. 2008 Sep 15;76(6):763-72. doi: 10.1016/j.bcp.2008.07.006. Epub 2008 Jul 12.
2. Thalassemia minor, the Gilbert mutation, and the risk of gallstones. Borgna-Pignatti C, etal., Haematologica. 2003 Oct;88(10):1106-9.
3. Rescue of bilirubin-induced neonatal lethality in a mouse model of Crigler-Najjar syndrome type I by AAV9-mediated gene transfer. Bortolussi G, etal., FASEB J. 2012 Mar;26(3):1052-63. Epub 2011 Nov 17.
4. Relationship between hyperbilirubinaemia and UDP-glucuronosyltransferase 1A1 (UGT1A1) polymorphism in adult HIV-infected Thai patients treated with indinavir. Boyd MA, etal., Pharmacogenet Genomics. 2006 May;16(5):321-9.
5. Molecular basis of bilirubin UDP-glucuronosyltransferase induction in spontaneously diabetic rats, acetone-treated rats and starved rats. Braun L, etal., Biochem J. 1998 Dec 15;336 ( Pt 3):587-92.
6. Meta-analysis of contribution of genetic polymorphisms in drug-metabolizing enzymes or transporters to axitinib pharmacokinetics. Brennan M, etal., Eur J Clin Pharmacol. 2012 May;68(5):645-55. Epub 2011 Dec 15.
7. Hereditary Acholuric Jaundice In The Rat Canadian Medical Association Journal
8. UGT1A1*28 polymorphism in ovarian cancer patients. Cecchin E, etal., Oncol Rep. 2004 Aug;12(2):457-62.
9. Risk of hyperbilirubinemia in breast-fed infants. Chang PF, etal., J Pediatr. 2011 Oct;159(4):561-5. doi: 10.1016/j.jpeds.2011.03.042. Epub 2011 May 18.
10. A functional polymorphism in UGT1A1 related to hyperbilirubinemia is associated with a decreased risk for Crohn's disease. de Vries HS, etal., J Crohns Colitis. 2011 Dec 16.
11. Coinheritance of Gilbert syndrome increases the risk for developing gallstones in patients with hereditary spherocytosis. del Giudice EM, etal., Blood. 1999 Oct 1;94(7):2259-62.
12. UGT1A1 genetic polymorphisms, endogenous estrogen exposure, soy food intake, and endometrial cancer risk. Deming SL, etal., Cancer Epidemiol Biomarkers Prev. 2008 Mar;17(3):563-70.
13. Co-inherited Gilbert's syndrome: a factor determining hyperbilirubinemia in homozygous beta-thalassemia. Galanello R, etal., Haematologica. 1999 Feb;84(2):103-5.
14. Splice-site mutations: a novel genetic mechanism of Crigler-Najjar syndrome type 1. Gantla S, etal., Am J Hum Genet. 1998 Mar;62(3):585-92.
15. Associations between UGT1A1*6/*28 polymorphisms and irinotecan-induced severe toxicity in Chinese gastric or esophageal cancer patients. Gao J, etal., Med Oncol. 2013;30(3):630. doi: 10.1007/s12032-013-0630-8. Epub 2013 Jun 20.
16. Prediction of irinotecan and 5-fluorouracil toxicity and response in patients with advanced colorectal cancer. Glimelius B, etal., Pharmacogenomics J. 2011 Feb;11(1):61-71. doi: 10.1038/tpj.2010.10. Epub 2010 Feb 23.
17. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
18. 9-cis-Retinoic acid regulation of four UGT isoforms in hepatocytes from rats with various thyroid states. Haberkorn V, etal., Pharm Res. 2003 Oct;20(10):1568-73.
19. Comprehensive analysis of UGT1A polymorphisms predictive for pharmacokinetics and treatment outcome in patients with non-small-cell lung cancer treated with irinotecan and cisplatin. Han JY, etal., J Clin Oncol. 2006 May 20;24(15):2237-44. Epub 2006 Apr 24.
20. UGT1A1 variation and gallstone formation in sickle cell disease. Haverfield EV, etal., Blood. 2005 Feb 1;105(3):968-72. Epub 2004 Sep 23.
21. Genetic variants in the UDP-glucuronosyltransferase 1A1 gene predict the risk of severe neutropenia of irinotecan. Innocenti F, etal., J Clin Oncol. 2004 Apr 15;22(8):1382-8. Epub 2004 Mar 8.
22. Long-term correction of hyperbilirubinemia in the Gunn rat by repeated intravenous delivery of naked plasmid DNA into muscle. Jia Z and Danko I, Mol Ther. 2005 Nov;12(5):860-6. Epub 2005 Jul 12.
23. Potential role of UGT pharmacogenetics in cancer treatment and prevention: focus on tamoxifen. Lazarus P, etal., Ann N Y Acad Sci. 2009 Feb;1155:99-111.
24. Early modification of sickle cell disease clinical course by UDP-glucuronosyltransferase 1A1 gene promoter polymorphism. Martins R, etal., J Hum Genet. 2008;53(6):524-8. doi: 10.1007/s10038-008-0281-3. Epub 2008 Apr 5.
25. Metabolism and disposition of acetaminophen: recent advances in relation to hepatotoxicity and diagnosis. McGill MR and Jaeschke H, Pharm Res. 2013 Sep;30(9):2174-87. doi: 10.1007/s11095-013-1007-6. Epub 2013 Mar 6.
26. In the rat liver, Adenoviral gene transfer efficiency is comparable to AAV. Montenegro-Miranda PS, etal., Gene Ther. 2014 Feb;21(2):168-74. doi: 10.1038/gt.2013.69. Epub 2013 Nov 28.
27. Tocilizumab-induced hyperbilirubinemia in Japanese patients with rheumatoid arthritis: its association with UDP glucuronosyltransferase 1A1 gene polymorphisms. Mori S, etal., Mod Rheumatol. 2011 Oct 13.
28. Association between the low-dose irinotecan regimen-induced occurrence of grade 4 neutropenia and genetic variants of in patients with gynecological cancers. Moriya H, etal., Oncol Lett. 2014 Jun;7(6):2035-2040. Epub 2014 Apr 8.
29. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
30. Phase II clinical trial of metronomic chemotherapy with combined irinotecan and tegafur-gimeracil-oteracil potassium in metastatic and recurrent breast cancer. Otsuka H, etal., Breast Cancer. 2015 Jul;22(4):335-42. doi: 10.1007/s12282-013-0483-1. Epub 2013 Jul 5.
31. Sustained reduction of hyperbilirubinemia in Gunn rats after adeno-associated virus-mediated gene transfer of bilirubin UDP-glucuronosyltransferase isozyme 1A1 to skeletal muscle. Pastore N, etal., Hum Gene Ther. 2012 Oct;23(10):1082-9. doi: 10.1089/hum.2012.018. Epub 2012 Aug 27.
32. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
33. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
34. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
35. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
36. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
37. Expression of UDP-glucuronosyltransferase isoform mRNAs during inflammation and infection in mouse liver and kidney. Richardson TA, etal., Drug Metab Dispos. 2006 Mar;34(3):351-3. Epub 2005 Dec 8.
38. Pharmacogenetics and pharmacogenomics of cholesterol-lowering therapy. Schmitz G, etal., Curr Opin Lipidol. 2007 Apr;18(2):164-73.
39. [Association of polymorphisms in SULT1A1 and UGT1A1 Genes with breast cancer risk and phenotypes in Russian women]. Shatalova EG, etal., Mol Biol (Mosk). 2006 Mar-Apr;40(2):263-70.
40. Association between severe toxicity of nilotinib and UGT1A1 polymorphisms in Japanese patients with chronic myelogenous leukemia. Shibata T, etal., Int J Clin Oncol. 2014 Apr;19(2):391-6. doi: 10.1007/s10147-013-0562-5. Epub 2013 Apr 23.
41. Genetic Polymorphisms of SLCO1B1, CYP2E1 and UGT1A1 and Susceptibility to Anti-Tuberculosis Drug-Induced Hepatotoxicity: A Chinese Population-Based Prospective Case-Control Study. Sun Q, etal., Clin Drug Investig. 2017 Dec;37(12):1125-1136. doi: 10.1007/s40261-017-0572-6.
42. Clinical significance of UDP-glucuronosyltransferase 1A1*6 for toxicities of combination chemotherapy with irinotecan and cisplatin in gynecologic cancers: a prospective multi-institutional study. Takano M, etal., Oncology. 2009;76(5):315-21. Epub 2009 Mar 20.
43. Association between promoter and coding region mutations of UDP-glucuronosyltransferase 1A1 and beta-thalassemia/Hb E with cholelithiasis. Tankanitlert J, etal., Eur J Haematol. 2008 Apr;80(4):351-5. Epub 2007 Dec 10.
44. Lifelong elimination of hyperbilirubinemia in the Gunn rat with a single injection of helper-dependent adenoviral vector. Toietta G, etal., Proc Natl Acad Sci U S A 2005 Mar 15;102(11):3930-5. Epub 2005 Mar 7.
45. Kaempferol protects against propacetamol-induced acute liver injury through CYP2E1 inactivation, UGT1A1 activation, and attenuation of oxidative stress, inflammation and apoptosis in mice. Tsai MS, etal., Toxicol Lett. 2018 Jun 15;290:97-109. doi: 10.1016/j.toxlet.2018.03.024. Epub 2018 Mar 21.
46. Successful treatment of UGT1A1 deficiency in a rat model of Crigler-Najjar disease by intravenous administration of a liver-specific lentiviral vector. van der Wegen P, etal., Mol Ther. 2006 Feb;13(2):374-81. Epub 2005 Dec 5.
47. The linear effects of alpha-thalassaemia, the UGT1A1 and HMOX1 polymorphisms on cholelithiasis in sickle cell disease. Vasavda N, etal., Br J Haematol. 2007 Jul;138(2):263-70.
48. Long-term reduction of jaundice in Gunn rats by nonviral liver-targeted delivery of Sleeping Beauty transposon. Wang X, etal., Hepatology. 2009 Sep;50(3):815-24. doi: 10.1002/hep.23060.
49. Dysregulations of intestinal and colonic UDP-glucuronosyltransferases in rats with type 2 diabetes. Xie H, etal., Drug Metab Pharmacokinet. 2013;28(5):427-34. Epub 2013 Apr 2.
50. Yinchenhao Decoction Ameliorates Alpha-Naphthylisothiocyanate Induced Intrahepatic Cholestasis in Rats by Regulating Phase II Metabolic Enzymes and Transporters. Yi YX, etal., Front Pharmacol. 2018 May 15;9:510. doi: 10.3389/fphar.2018.00510. eCollection 2018.
51. Correlations between polymorphisms in the uridine diphosphate-glucuronosyltransferase 1A and C-C motif chemokine receptor 5 genes and infection with the hepatitis B virus in three ethnic groups in China. Zhang C, etal., J Int Med Res. 2018 Feb;46(2):739-751. doi: 10.1177/0300060517730174. Epub 2017 Sep 20.
52. Glucuronidation of monohydroxylated warfarin metabolites by human liver microsomes and human recombinant UDP-glucuronosyltransferases. Zielinska A, etal., J Pharmacol Exp Ther. 2008 Jan;324(1):139-48. Epub 2007 Oct 5.
Additional References at PubMed
PMID:1339448   PMID:1634050   PMID:1634606   PMID:1898728   PMID:2108603   PMID:3082969   PMID:3141926   PMID:7565971   PMID:7715297   PMID:7906695   PMID:7936809   PMID:7989045  
PMID:7989595   PMID:8027054   PMID:8226884   PMID:8276413   PMID:8280139   PMID:8467709   PMID:8514037   PMID:8528206   PMID:8706880   PMID:9039987   PMID:9295054   PMID:9375768  
PMID:9472029   PMID:9535849   PMID:9621515   PMID:9627603   PMID:9639672   PMID:10412811   PMID:10706110   PMID:10748067   PMID:10836148   PMID:10946897   PMID:11013440   PMID:11061796  
PMID:11141380   PMID:11156391   PMID:11179460   PMID:11370628   PMID:11401924   PMID:11434514   PMID:11465080   PMID:11764096   PMID:11827650   PMID:11855932   PMID:11857560   PMID:11878580  
PMID:11906189   PMID:11915038   PMID:11968090   PMID:11987245   PMID:12036456   PMID:12078936   PMID:12105841   PMID:12139570   PMID:12151360   PMID:12185559   PMID:12357057   PMID:12402338  
PMID:12439228   PMID:12477932   PMID:12480553   PMID:12480568   PMID:12499798   PMID:12502904   PMID:12566446   PMID:12602902   PMID:12646172   PMID:12677174   PMID:12680285   PMID:12695355  
PMID:12732365   PMID:12732844   PMID:12743455   PMID:12800608   PMID:12850481   PMID:12850492   PMID:12909459   PMID:12960109   PMID:12969965   PMID:12972027   PMID:14550264   PMID:14586211  
PMID:14616765   PMID:14647407   PMID:14672974   PMID:14871858   PMID:15049432   PMID:15111762   PMID:15179405   PMID:15180166   PMID:15247627   PMID:15280927   PMID:15286088   PMID:15297419  
PMID:15304120   PMID:15318931   PMID:15319294   PMID:15319464   PMID:15320866   PMID:15455371   PMID:15472229   PMID:15486048   PMID:15491385   PMID:15519273   PMID:15523087   PMID:15557560  
PMID:15560369   PMID:15572581   PMID:15586176   PMID:15684703   PMID:15709212   PMID:15710570   PMID:15712364   PMID:15746053   PMID:15771689   PMID:15815621   PMID:15855726   PMID:15857854  
PMID:15864124   PMID:15864125   PMID:15864130   PMID:15867280   PMID:15929176   PMID:15931768   PMID:16004608   PMID:16135700   PMID:16171463   PMID:16210851   PMID:16237771   PMID:16255851  
PMID:16257834   PMID:16257926   PMID:16280036   PMID:16399345   PMID:16424820   PMID:16456808   PMID:16469709   PMID:16513443   PMID:16557566   PMID:16610035   PMID:16712705   PMID:16735790  
PMID:16771603   PMID:16791115   PMID:16792515   PMID:16809730   PMID:16849011   PMID:16864595   PMID:16865249   PMID:16871576   PMID:16896007   PMID:16909274   PMID:16951398   PMID:16965601  
PMID:16969497   PMID:16985250   PMID:17000907   PMID:17060921   PMID:17138857   PMID:17166930   PMID:17179145   PMID:17185998   PMID:17187418   PMID:17192505   PMID:17196409   PMID:17229650  
PMID:17259171   PMID:17273745   PMID:17329852   PMID:17372243   PMID:17374650   PMID:17406868   PMID:17409981   PMID:17426648   PMID:17440429   PMID:17459361   PMID:17471158   PMID:17478602  
PMID:17498780   PMID:17506482   PMID:17510208   PMID:17530442   PMID:17549067   PMID:17555467   PMID:17558305   PMID:17576806   PMID:17577039   PMID:17578897   PMID:17611564   PMID:17622938  
PMID:17627617   PMID:17681105   PMID:17700594   PMID:17728214   PMID:17762398   PMID:17850628   PMID:17888052   PMID:17898154   PMID:17909964   PMID:17949292   PMID:17952380   PMID:17978490  
PMID:17981384   PMID:17990575   PMID:18004206   PMID:18004212   PMID:18043502   PMID:18052087   PMID:18082937   PMID:18161889   PMID:18172616   PMID:18181169   PMID:18221820   PMID:18223459  
PMID:18240903   PMID:18300238   PMID:18324905   PMID:18335219   PMID:18343383   PMID:18349289   PMID:18375480   PMID:18379174   PMID:18419642   PMID:18430559   PMID:18454993   PMID:18491077  
PMID:18498916   PMID:18509181   PMID:18547414   PMID:18558634   PMID:18594531   PMID:18597651   PMID:18675828   PMID:18685565   PMID:18695635   PMID:18719240   PMID:18756540   PMID:18768784  
PMID:18781851   PMID:18790042   PMID:18797458   PMID:18818748   PMID:18832463   PMID:18953066   PMID:18981166   PMID:18982743   PMID:18990750   PMID:18992148   PMID:19019335   PMID:19021734  
PMID:19077918   PMID:19141701   PMID:19204906   PMID:19207584   PMID:19217809   PMID:19238116   PMID:19243019   PMID:19268007   PMID:19279563   PMID:19303655   PMID:19309288   PMID:19325249  
PMID:19336732   PMID:19343046   PMID:19349540   PMID:19349543   PMID:19352303   PMID:19356098   PMID:19364970   PMID:19371317   PMID:19389676   PMID:19390945   PMID:19397531   PMID:19406951  
PMID:19414484   PMID:19419973   PMID:19424794   PMID:19430380   PMID:19450125   PMID:19482841   PMID:19486253   PMID:19513514   PMID:19527514   PMID:19546880   PMID:19620808   PMID:19636001  
PMID:19639031   PMID:19674361   PMID:19683255   PMID:19712005   PMID:19732760   PMID:19771428   PMID:19797611   PMID:19830808   PMID:19858149   PMID:19858398   PMID:19859999   PMID:19861894  
PMID:19888426   PMID:19891553   PMID:19898482   PMID:19913121   PMID:19932091   PMID:19948621   PMID:19996319   PMID:20028383   PMID:20038727   PMID:20056724   PMID:20057336   PMID:20061399  
PMID:20063115   PMID:20064729   PMID:20070246   PMID:20087647   PMID:20096102   PMID:20136364   PMID:20140262   PMID:20142249   PMID:20173083   PMID:20197307   PMID:20207827   PMID:20214802  
PMID:20215562   PMID:20216541   PMID:20235787   PMID:20297805   PMID:20308029   PMID:20308471   PMID:20335017   PMID:20358470   PMID:20371435   PMID:20376058   PMID:20377135   PMID:20378551  
PMID:20381444   PMID:20385995   PMID:20389299   PMID:20402064   PMID:20430047   PMID:20483464   PMID:20485444   PMID:20504240   PMID:20528217   PMID:20528568   PMID:20529348   PMID:20530282  
PMID:20546738   PMID:20562211   PMID:20562445   PMID:20580994   PMID:20600030   PMID:20610558   PMID:20620155   PMID:20628086   PMID:20628391   PMID:20639394   PMID:20643254   PMID:20647221  
PMID:20648548   PMID:20650040   PMID:20653675   PMID:20679960   PMID:20686835   PMID:20709051   PMID:20734064   PMID:20823282   PMID:20837016   PMID:20860988   PMID:20865252   PMID:20890421  
PMID:20948202   PMID:20975617   PMID:21072184   PMID:21080475   PMID:21092520   PMID:21150467   PMID:21266593   PMID:21272068   PMID:21275655   PMID:21317830   PMID:21319362   PMID:21342357  
PMID:21351260   PMID:21411679   PMID:21473286   PMID:21513526   PMID:21614935   PMID:21646302   PMID:21760472   PMID:21771722   PMID:21873635   PMID:21886157   PMID:21911884   PMID:21978357  
PMID:21983082   PMID:21988832   PMID:22050734   PMID:22085899   PMID:22169899   PMID:22199302   PMID:22212955   PMID:22213983   PMID:22214020   PMID:22273851   PMID:22299209   PMID:22307138  
PMID:22318545   PMID:22325916   PMID:22340355   PMID:22357454   PMID:22367021   PMID:22371261   PMID:22448797   PMID:22450351   PMID:22475179   PMID:22511988   PMID:22537951   PMID:22558097  
PMID:22559977   PMID:22579593   PMID:22648071   PMID:22661630   PMID:22676194   PMID:22749334   PMID:22808571   PMID:22829544   PMID:23014115   PMID:23053265   PMID:23089802   PMID:23130636  
PMID:23147267   PMID:23148286   PMID:23148825   PMID:23207817   PMID:23236239   PMID:23281178   PMID:23290513   PMID:23303296   PMID:23350445   PMID:23371916   PMID:23386248   PMID:23401472  
PMID:23461146   PMID:23516488   PMID:23517300   PMID:23529007   PMID:23537215   PMID:23548653   PMID:23580084   PMID:23605141   PMID:23642732   PMID:23647681   PMID:23686699   PMID:23714156  
PMID:23753274   PMID:23781580   PMID:23789755   PMID:23881212   PMID:23892411   PMID:23898114   PMID:23926009   PMID:23950218   PMID:23964438   PMID:23981182   PMID:23992562   PMID:24033692  
PMID:24057187   PMID:24060717   PMID:24065680   PMID:24088669   PMID:24088753   PMID:24097068   PMID:24107802   PMID:24114122   PMID:24167350   PMID:24195516   PMID:24204915   PMID:24217933  
PMID:24232666   PMID:24255116   PMID:24286076   PMID:24308720   PMID:24329186   PMID:24341141   PMID:24375494   PMID:24390949   PMID:24401909   PMID:24403077   PMID:24403462   PMID:24453052  
PMID:24458221   PMID:24516079   PMID:24519753   PMID:24557078   PMID:24615032   PMID:24620945   PMID:24625756   PMID:24650397   PMID:24690955   PMID:24709690   PMID:24726540   PMID:24793765  
PMID:24815493   PMID:24816252   PMID:24856997   PMID:24865931   PMID:24898899   PMID:24901842   PMID:24947795   PMID:24958824   PMID:24977443   PMID:25016708   PMID:25055799   PMID:25072305  
PMID:25086287   PMID:25092941   PMID:25102181   PMID:25105254   PMID:25141892   PMID:25200497   PMID:25246029   PMID:25260839   PMID:25262300   PMID:25312789   PMID:25368098   PMID:25391605  
PMID:25450281   PMID:25478904   PMID:25488668   PMID:25545261   PMID:25611851   PMID:25712374   PMID:25741749   PMID:25760534   PMID:25778466   PMID:25782327   PMID:25822733   PMID:25953521  
PMID:25967674   PMID:25981652   PMID:25993113   PMID:25997248   PMID:26010150   PMID:26039129   PMID:26068521   PMID:26068529   PMID:26098842   PMID:26125716   PMID:26125934   PMID:26146841  
PMID:26146896   PMID:26200705   PMID:26223945   PMID:26229432   PMID:26247833   PMID:26250421   PMID:26313268   PMID:26403473   PMID:26467199   PMID:26482555   PMID:26494856   PMID:26628212  
PMID:26637161   PMID:26645279   PMID:26697581   PMID:26716871   PMID:26727668   PMID:26751466   PMID:26773202   PMID:26830078   PMID:26857783   PMID:26872008   PMID:26960716   PMID:27025983  
PMID:27057738   PMID:27060662   PMID:27072236   PMID:27155186   PMID:27160286   PMID:27264814   PMID:27318112   PMID:27323053   PMID:27413119   PMID:27461651   PMID:27507617   PMID:27525948  
PMID:27531059   PMID:27533851   PMID:27704169   PMID:27832386   PMID:27842454   PMID:27857056   PMID:27938508   PMID:27943244   PMID:27967321   PMID:27977017   PMID:27981643   PMID:28056823  
PMID:28098838   PMID:28173214   PMID:28296739   PMID:28338110   PMID:28389615   PMID:28399191   PMID:28422158   PMID:28502040   PMID:28567595   PMID:28585035   PMID:28637434   PMID:28879724  
PMID:28888563   PMID:28915895   PMID:28951772   PMID:29025858   PMID:29052349   PMID:29058288   PMID:29117017   PMID:29131533   PMID:29137095   PMID:29179591   PMID:29210320   PMID:29220881  
PMID:29311138   PMID:29441806   PMID:29444544   PMID:29448836   PMID:29504153   PMID:29524031   PMID:29534743   PMID:29540112   PMID:29607327   PMID:29743555   PMID:29889392   PMID:29932297  
PMID:29955115   PMID:30001838   PMID:30016963   PMID:30105552   PMID:30139029   PMID:30237061   PMID:30328531   PMID:30334318   PMID:30447099   PMID:30497071   PMID:30514181   PMID:30527181  
PMID:30544479   PMID:30583998   PMID:30585257   PMID:30628534   PMID:30669781   PMID:30673201   PMID:30962262   PMID:31017737   PMID:31022310   PMID:31087315   PMID:31132973   PMID:31145902  
PMID:31150474   PMID:31467903   PMID:31558477   PMID:31586129   PMID:31619193   PMID:31640912   PMID:31980500   PMID:32058557   PMID:32126570   PMID:32176075   PMID:32264830   PMID:32473870  
PMID:32536060   PMID:32577754   PMID:32676731   PMID:32737884   PMID:32758288   PMID:32881938   PMID:32936306   PMID:32958836   PMID:33022573   PMID:33090402   PMID:33158427   PMID:33421605  
PMID:33523291   PMID:33622990   PMID:33631237   PMID:33730321   PMID:33961781   PMID:34074250   PMID:34462452   PMID:34528449   PMID:34807779   PMID:34895177   PMID:34953813   PMID:35061524  
PMID:35149777   PMID:35192750   PMID:35328047   PMID:35340156   PMID:35426266   PMID:35436954   PMID:35501760   PMID:35506159   PMID:35527687   PMID:35807350   PMID:35894195   PMID:35942604  
PMID:36274106   PMID:36293566   PMID:36293671   PMID:36520959   PMID:36527823   PMID:37137832   PMID:37260062   PMID:37273120   PMID:37365030   PMID:37445792   PMID:37585628   PMID:38279097  
PMID:38514260   PMID:38577195  


Genomics

Comparative Map Data
UGT1A1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382233,760,270 - 233,773,300 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2233,760,270 - 233,773,300 (+)EnsemblGRCh38hg38GRCh38
GRCh372234,668,916 - 234,681,946 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362234,333,658 - 234,346,684 (+)NCBINCBI36Build 36hg18NCBI36
Build 342234,450,918 - 234,463,945NCBI
Celera2228,389,552 - 228,402,577 (+)NCBICelera
Cytogenetic Map2q37.1NCBI
HuRef2226,468,768 - 226,481,779 (+)NCBIHuRef
CHM1_12234,674,733 - 234,682,899 (+)NCBICHM1_1
T2T-CHM13v2.02234,248,901 - 234,261,929 (+)NCBIT2T-CHM13v2.0
Ugt1a1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39188,139,681 - 88,147,724 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl188,139,681 - 88,146,719 (+)EnsemblGRCm39 Ensembl
GRCm38188,211,959 - 88,220,002 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl188,211,959 - 88,218,997 (+)EnsemblGRCm38mm10GRCm38
MGSCv37190,108,534 - 90,116,577 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36190,043,130 - 90,050,148 (+)NCBIMGSCv36mm8
Celera191,173,026 - 91,181,062 (+)NCBICelera
Cytogenetic Map1DNCBI
cM Map144.55NCBI
Ugt1a1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8996,249,143 - 96,256,264 (+)NCBIGRCr8
mRatBN7.2988,801,344 - 88,808,465 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl988,713,184 - 88,808,465 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx997,225,245 - 97,232,360 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.09102,361,437 - 102,368,552 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.09100,729,538 - 100,736,659 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0995,295,701 - 95,302,822 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl995,161,157 - 95,302,822 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0994,982,916 - 94,990,037 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4987,091,241 - 87,098,362 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1987,277,121 - 87,284,238 (+)NCBI
Celera986,362,434 - 86,369,556 (+)NCBICelera
Cytogenetic Map9q35NCBI

Variants

.
Variants in UGT1A1
258 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000463.3(UGT1A1):c.907G>A (p.Val303Met) single nucleotide variant UGT1A1-related condition [RCV003411667]|not provided [RCV000728134] Chr2:233767076 [GRCh38]
Chr2:234675722 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.1174C>T (p.Pro392Ser) single nucleotide variant not provided [RCV000729132] Chr2:233768309 [GRCh38]
Chr2:234676955 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.1198A>C (p.Asn400His) single nucleotide variant not provided [RCV000729304] Chr2:233768333 [GRCh38]
Chr2:234676979 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.877_890delinsA (p.Tyr293fs) indel Crigler-Najjar syndrome type 1 [RCV000013053]|not provided [RCV000594259] Chr2:233767046..233767059 [GRCh38]
Chr2:234675692..234675705 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_000463.3(UGT1A1):c.1124C>T (p.Ser375Phe) single nucleotide variant Crigler-Najjar syndrome [RCV003387719]|Crigler-Najjar syndrome type 1 [RCV000013054]|not provided [RCV001851815] Chr2:233768259 [GRCh38]
Chr2:234676905 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_000463.3(UGT1A1):c.991C>T (p.Gln331Ter) single nucleotide variant Crigler-Najjar syndrome type 1 [RCV000013055] Chr2:233767160 [GRCh38]
Chr2:234675806 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_000463.3(UGT1A1):c.1021C>T (p.Arg341Ter) single nucleotide variant Crigler-Najjar syndrome type 1 [RCV000013056]|Gilbert syndrome [RCV000013057]|not provided [RCV001818151] Chr2:233767873 [GRCh38]
Chr2:234676519 [GRCh37]
Chr2:2q37.1		 pathogenic|affects
NM_000463.3(UGT1A1):c.992A>G (p.Gln331Arg) single nucleotide variant Crigler-Najjar syndrome, type II [RCV000013058]|not provided [RCV001818152] Chr2:233767161 [GRCh38]
Chr2:234675807 [GRCh37]
Chr2:2q37.1		 pathogenic|likely pathogenic
NM_000463.3(UGT1A1):c.510CTT[1] (p.Phe171del) microsatellite Crigler-Najjar syndrome type 1 [RCV000013059]|not provided [RCV003556007] Chr2:233760795..233760797 [GRCh38]
Chr2:234669441..234669443 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_000463.3(UGT1A1):c.923G>A (p.Gly308Glu) single nucleotide variant Crigler-Najjar syndrome type 1 [RCV000013060]|Gilbert syndrome [RCV002247330]|not provided [RCV003114188] Chr2:233767092 [GRCh38]
Chr2:234675738 [GRCh37]
Chr2:2q37.1		 pathogenic|likely pathogenic
NM_000463.3(UGT1A1):c.840C>A (p.Cys280Ter) single nucleotide variant Crigler-Najjar syndrome type 1 [RCV000013061] Chr2:233761127 [GRCh38]
Chr2:234669773 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_000463.3(UGT1A1):c.686C>A (p.Pro229Gln) single nucleotide variant Crigler-Najjar syndrome, type II [RCV000013063]|Gilbert syndrome [RCV000013062]|UGT1A1-related condition [RCV003390674]|not provided [RCV000299521]|not specified [RCV000147905] Chr2:233760973 [GRCh38]
Chr2:234669619 [GRCh37]
Chr2:2q37.1		 pathogenic|affects|benign|conflicting interpretations of pathogenicity|uncertain significance|other
UGT1A1*28 microsatellite Bilirubin, serum level of, quantitative trait locus 1 [RCV000022809]|Bilirubin, serum level of, quantitative trait locus 1 [RCV001269334]|Crigler-Najjar syndrome, type II [RCV000013065]|Gilbert syndrome [RCV000013064]|Irinotecan response [RCV000664404]|Lucey-Driscoll syndrome [RCV000022808]|not provided [RCV001093257]|not specified [RCV000249621] Chr2:233760233..233760234 [GRCh38]
Chr2:234668881 [GRCh37]
Chr2:2q37.1		 pathogenic|likely pathogenic|association|affects|benign|conflicting interpretations of pathogenicity|drug response|no classifications from unflagged records|other
NM_000463.3(UGT1A1):c.474_475insT (p.Ile159fs) insertion Crigler-Najjar syndrome type 1 [RCV000013067] Chr2:233760761..233760762 [GRCh38]
Chr2:234669407..234669408 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_000463.3(UGT1A1):c.864+1G>C single nucleotide variant Crigler-Najjar syndrome type 1 [RCV000013068]|not provided [RCV000731416] Chr2:233761152 [GRCh38]
Chr2:234669798 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_000463.3(UGT1A1):c.145C>T (p.Gln49Ter) single nucleotide variant Crigler-Najjar syndrome type 1 [RCV000013069] Chr2:233760432 [GRCh38]
Chr2:234669078 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_000463.3(UGT1A1):c.1085-2A>G single nucleotide variant Crigler-Najjar syndrome type 1 [RCV000013070] Chr2:233768218 [GRCh38]
Chr2:234676864 [GRCh37]
Chr2:2q37.1		 pathogenic
UGT1A1*6 single nucleotide variant Bilirubin, serum level of, quantitative trait locus 1 [RCV000022811]|Crigler-Najjar syndrome, type II [RCV000987059]|Gilbert syndrome [RCV000013071]|Irinotecan response [RCV000664403]|Lucey-Driscoll syndrome [RCV000022810]|not provided [RCV001508487]|not specified [RCV000173139] Chr2:233760498 [GRCh38]
Chr2:234669144 [GRCh37]
Chr2:2q37.1		 pathogenic|likely pathogenic|association|affects|benign|likely benign|conflicting interpretations of pathogenicity|drug response|other
NM_000463.3(UGT1A1):c.1456T>G (p.Tyr486Asp) single nucleotide variant Bilirubin, serum level of, quantitative trait locus 1 [RCV000763480]|Crigler-Najjar syndrome, type II [RCV000013074]|Gilbert syndrome [RCV000999563]|Hyperbilirubinemia [RCV000147900]|Lucey-Driscoll syndrome [RCV000013073]|UGT1A1-related condition [RCV003944818]|not provided [RCV001810853] Chr2:233772413 [GRCh38]
Chr2:234681059 [GRCh37]
Chr2:2q37.1		 pathogenic|likely pathogenic
NM_001072.4(UGT1A6):c.862-8098= single nucleotide variant Lucey-Driscoll syndrome [RCV000013075] Chr2:233758936 [GRCh38]
Chr2:234667582 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_000463.3(UGT1A1):c.1070A>G (p.Gln357Arg) single nucleotide variant Crigler-Najjar syndrome type 1 [RCV000013076]|Gilbert syndrome [RCV003987318]|not provided [RCV003488338] Chr2:233767922 [GRCh38]
Chr2:234676568 [GRCh37]
Chr2:2q37.1		 pathogenic|likely pathogenic
UGT1A1, 1-BP DEL, 1223A deletion Crigler-Najjar syndrome, type II [RCV000013077] Chr2:2q37 pathogenic
NM_000463.3(UGT1A1):c.524T>A (p.Leu175Gln) single nucleotide variant Crigler-Najjar syndrome, type II [RCV000013078]|UGT1A1-related condition [RCV003934828]|not provided [RCV000726992] Chr2:233760811 [GRCh38]
Chr2:234669457 [GRCh37]
Chr2:2q37.1		 pathogenic|likely pathogenic|other
NM_000463.3(UGT1A1):c.1198A>G (p.Asn400Asp) single nucleotide variant Crigler-Najjar syndrome, type II [RCV000013079]|Gilbert syndrome [RCV000013080]|UGT1A1-Related Disorders [RCV000779315] Chr2:233768333 [GRCh38]
Chr2:234676979 [GRCh37]
Chr2:2q37.1		 pathogenic|affects|uncertain significance
NM_000463.3(UGT1A1):c.44T>G (p.Leu15Arg) single nucleotide variant Bilirubin, serum level of, quantitative trait locus 1 [RCV002496334]|Crigler-Najjar syndrome, type II [RCV000013081]|not provided [RCV001529911] Chr2:233760331 [GRCh38]
Chr2:234668977 [GRCh37]
Chr2:2q37.1		 pathogenic|likely pathogenic
NM_001072.4(UGT1A6):c.862-10021T>G single nucleotide variant Crigler-Najjar syndrome type 1 [RCV003883117]|Gilbert syndrome [RCV000999557]|Gilbert syndrome, susceptibility to [RCV000013082]|UGT1A9-related condition [RCV003914830]|not provided [RCV001810854] Chr2:233757013 [GRCh38]
Chr2:234665659 [GRCh37]
Chr2:2q37.1		 pathogenic|likely pathogenic|risk factor|benign|uncertain significance
NM_000463.3(UGT1A1):c.864+2842G>T single nucleotide variant Bilirubin, serum level of, quantitative trait locus 1 [RCV000013083]|Gilbert syndrome [RCV000999560] Chr2:233763993 [GRCh38]
Chr2:234672639 [GRCh37]
Chr2:2q37.1		 association|benign
NM_000463.3(UGT1A1):c.1161C>T (p.Pro387=) single nucleotide variant UGT1A9-related condition [RCV003905548]|not provided [RCV000594084] Chr2:233768296 [GRCh38]
Chr2:234676942 [GRCh37]
Chr2:2q37.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1 copy number loss See cases [RCV000050304] Chr2:231770279..242126245 [GRCh38]
Chr2:232634989..243059659 [GRCh37]
Chr2:232343233..242717069 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q37.1(chr2:233420162-233761780)x3 copy number gain See cases [RCV000050828] Chr2:233420162..233761780 [GRCh38]
Chr2:234229606..234670426 [GRCh37]
Chr2:233894345..234335165 [NCBI36]
Chr2:2q37.1		 uncertain significance
GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3 copy number gain See cases [RCV000051119] Chr2:194898783..236473913 [GRCh38]
Chr2:195763507..237382556 [GRCh37]
Chr2:195471752..237047295 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
GRCh38/hg38 2q36.3-37.2(chr2:227343278-235339168)x1 copy number loss See cases [RCV000052638] Chr2:227343278..235339168 [GRCh38]
Chr2:228207994..236247812 [GRCh37]
Chr2:227916238..235912551 [NCBI36]
Chr2:2q36.3-37.2		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:231375505-242065208)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052639]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052639]|See cases [RCV000052639] Chr2:231375505..242065208 [GRCh38]
Chr2:232240216..243007359 [GRCh37]
Chr2:231948460..242656032 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:232857728-242065349)x1 copy number loss See cases [RCV000052640] Chr2:232857728..242065349 [GRCh38]
Chr2:233722438..243007500 [GRCh37]
Chr2:233430682..242656173 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q36.3-37.3(chr2:226978129-236886599)x1 copy number loss See cases [RCV000052637] Chr2:226978129..236886599 [GRCh38]
Chr2:227842845..237795242 [GRCh37]
Chr2:227551089..237459981 [NCBI36]
Chr2:2q36.3-37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:233420162-242086301)x1 copy number loss See cases [RCV000052641] Chr2:233420162..242086301 [GRCh38]
Chr2:233995840..243028452 [GRCh37]
Chr2:233704084..242677125 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:233453611-242099155)x1 copy number loss See cases [RCV000052642] Chr2:233453611..242099155 [GRCh38]
Chr2:234362257..243041306 [GRCh37]
Chr2:234026996..242689979 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] Chr2:193122313..241074980 [GRCh38]
Chr2:193987039..242014395 [GRCh37]
Chr2:193695284..241663068 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
GRCh38/hg38 2q36.1-37.3(chr2:223992431-242126245)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]|See cases [RCV000052972] Chr2:223992431..242126245 [GRCh38]
Chr2:224857148..243059659 [GRCh37]
Chr2:224565392..242717069 [NCBI36]
Chr2:2q36.1-37.3		 pathogenic
GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3 copy number gain See cases [RCV000052973] Chr2:227803148..242086301 [GRCh38]
Chr2:228667864..243028452 [GRCh37]
Chr2:228376108..242677125 [NCBI36]
Chr2:2q36.3-37.3		 pathogenic
GRCh38/hg38 2q37.1(chr2:233687049-234225737)x1 copy number loss See cases [RCV000053813] Chr2:233687049..234225737 [GRCh38]
Chr2:234595695..235134381 [GRCh37]
Chr2:234260434..234799120 [NCBI36]
Chr2:2q37.1		 uncertain significance
NM_000463.2(UGT1A1):c.347T>A (p.Ile116Lys) single nucleotide variant Malignant melanoma [RCV000060519] Chr2:233760634 [GRCh38]
Chr2:234669280 [GRCh37]
Chr2:234334019 [NCBI36]
Chr2:2q37.1		 not provided
NM_000463.3(UGT1A1):c.1075G>A (p.Asp359Asn) single nucleotide variant Gilbert syndrome [RCV001733511]|not provided [RCV001810752] Chr2:233767927 [GRCh38]
Chr2:234676573 [GRCh37]
Chr2:234341312 [NCBI36]
Chr2:2q37.1		 uncertain significance|not provided
NM_000463.3(UGT1A1):c.1567C>T (p.Arg523Ter) single nucleotide variant Crigler-Najjar syndrome [RCV000661992]|Crigler-Najjar syndrome, type II [RCV003152724]|not provided [RCV000661993] Chr2:233772524 [GRCh38]
Chr2:234681170 [GRCh37]
Chr2:2q37.1		 likely pathogenic|uncertain significance
GRCh37/hg19 2q37.1-37.3(chr2:233784243-243040217)x1 copy number loss See cases [RCV000446034] Chr2:233784243..243040217 [GRCh37]
Chr2:2q37.1-37.3		 pathogenic
NM_001072.4(UGT1A6):c.862-7110C>T single nucleotide variant atazanavir response - Other [RCV000211430] Chr2:233759924 [GRCh38]
Chr2:234668570 [GRCh37]
Chr2:2q37.1		 drug response
NM_000463.3(UGT1A1):c.353dup (p.Asp119fs) duplication Crigler-Najjar syndrome type 1 [RCV000256423]|Gilbert syndrome [RCV003445825]|Inborn genetic diseases [RCV000622908]|UGT1A1-related condition [RCV003920027]|not provided [RCV003137872] Chr2:233760634..233760635 [GRCh38]
Chr2:234669280..234669281 [GRCh37]
Chr2:2q37.1		 pathogenic|likely pathogenic
NC_000002.11:g.234668881_234668882TA[5][6][7][8] microsatellite SN-38 response - Other [RCV000211306]|atazanavir and ritonavir response - Toxicity/ADR [RCV000211183]|irinotecan response - Toxicity/ADR [RCV000211397] Chr2:233760235..233760236 [GRCh38]
Chr2:234668881..234668882 [GRCh37]
Chr2:2q37.1		 drug response
NM_000463.3(UGT1A1):c.1084+1G>T single nucleotide variant Hyperbilirubinemia [RCV000147893]|not provided [RCV000733614] Chr2:233767937 [GRCh38]
Chr2:234676583 [GRCh37]
Chr2:2q37.1		 pathogenic|likely pathogenic
NM_000463.3(UGT1A1):c.1231G>T (p.Val411Leu) single nucleotide variant Hyperbilirubinemia [RCV000147894]|UGT1A1-related condition [RCV003927446]|not provided [RCV000731958] Chr2:233768366 [GRCh38]
Chr2:234677012 [GRCh37]
Chr2:2q37.1		 likely benign|uncertain significance
NM_000463.3(UGT1A1):c.1354G>T (p.Val452Leu) single nucleotide variant Hyperbilirubinemia [RCV000147895] Chr2:233772311 [GRCh38]
Chr2:234680957 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.1413G>A (p.Ala471=) single nucleotide variant Hyperbilirubinemia [RCV000147896] Chr2:233772370 [GRCh38]
Chr2:234681016 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.141C>A (p.Ile47=) single nucleotide variant Hyperbilirubinemia [RCV000147897] Chr2:233760428 [GRCh38]
Chr2:234669074 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.141C>T (p.Ile47=) single nucleotide variant Crigler-Najjar syndrome [RCV001139759]|Gilbert syndrome [RCV001139760]|Hyperbilirubinemia [RCV000147898]|Lucey-Driscoll syndrome [RCV001139758]|UGT1A1-related condition [RCV003917459]|not provided [RCV000963286]|not specified [RCV000383880] Chr2:233760428 [GRCh38]
Chr2:234669074 [GRCh37]
Chr2:2q37.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000463.3(UGT1A1):c.1428C>T (p.Pro476=) single nucleotide variant Crigler-Najjar syndrome [RCV001140744]|Gilbert syndrome [RCV001140745]|Lucey-Driscoll syndrome [RCV001140746]|not provided [RCV000956057]|not specified [RCV000147899] Chr2:233772385 [GRCh38]
Chr2:234681031 [GRCh37]
Chr2:2q37.1		 benign|likely benign|uncertain significance
NM_000463.3(UGT1A1):c.322C>T (p.Arg108Cys) single nucleotide variant Crigler-Najjar syndrome, type II [RCV003388574]|Gilbert syndrome [RCV002288658]|Hyperbilirubinemia [RCV000147901]|Inborn genetic diseases [RCV002515992]|not provided [RCV003718124] Chr2:233760609 [GRCh38]
Chr2:234669255 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.476T>C (p.Ile159Thr) single nucleotide variant Hyperbilirubinemia [RCV000147902] Chr2:233760763 [GRCh38]
Chr2:234669409 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.479T>A (p.Val160Glu) single nucleotide variant Crigler-Najjar syndrome type 1 [RCV001450052]|Hyperbilirubinemia [RCV000147903] Chr2:233760766 [GRCh38]
Chr2:234669412 [GRCh37]
Chr2:2q37.1		 likely pathogenic|uncertain significance
NM_000463.3(UGT1A1):c.674T>G (p.Val225Gly) single nucleotide variant Crigler-Najjar syndrome [RCV000348706]|Crigler-Najjar syndrome type 1 [RCV001004164]|Gilbert syndrome [RCV000313763]|Hyperbilirubinemia [RCV000147904]|Inborn genetic diseases [RCV002514850]|Lucey-Driscoll syndrome [RCV000396791]|UGT1A1-related condition [RCV003415983]|not provided [RCV000592026] Chr2:233760961 [GRCh38]
Chr2:234669607 [GRCh37]
Chr2:2q37.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|other
NM_000463.3(UGT1A1):c.748T>C (p.Ser250Pro) single nucleotide variant Crigler-Najjar syndrome [RCV001140642]|Gilbert syndrome [RCV001142507]|Hyperbilirubinemia [RCV000147906]|Lucey-Driscoll syndrome [RCV001142508]|not provided [RCV000728350] Chr2:233761035 [GRCh38]
Chr2:234669681 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.996+15T>C single nucleotide variant Crigler-Najjar syndrome [RCV000299727]|Gilbert syndrome [RCV000263302]|Hyperbilirubinemia [RCV000147907]|Lucey-Driscoll syndrome [RCV000354615]|not provided [RCV002055942] Chr2:233767180 [GRCh38]
Chr2:234675826 [GRCh37]
Chr2:2q37.1		 benign|likely benign|uncertain significance
GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3 copy number gain See cases [RCV000134169] Chr2:228723579..241404867 [GRCh38]
Chr2:229588295..242344282 [GRCh37]
Chr2:229296539..241992955 [NCBI36]
Chr2:2q36.3-37.3		 pathogenic
GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3 copy number gain See cases [RCV000135934] Chr2:210579676..242126245 [GRCh38]
Chr2:211444400..243059659 [GRCh37]
Chr2:211152645..242717069 [NCBI36]
Chr2:2q34-37.3		 pathogenic
GRCh38/hg38 2q36.3-37.2(chr2:228014149-234976424)x3 copy number gain See cases [RCV000136967] Chr2:228014149..234976424 [GRCh38]
Chr2:228878865..235885068 [GRCh37]
Chr2:228587109..235549807 [NCBI36]
Chr2:2q36.3-37.2		 pathogenic
NM_021027.3(UGT1A9):c.1420G>T (p.Ala474Ser) single nucleotide variant not specified [RCV000203111] Chr2:233772386 [GRCh38]
Chr2:234681032 [GRCh37]
Chr2:2q37.1		 uncertain significance
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3 copy number gain See cases [RCV000143216] Chr2:218101759..242126245 [GRCh38]
Chr2:218966482..243059659 [GRCh37]
Chr2:218674727..242717069 [NCBI36]
Chr2:2q35-37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1 copy number loss See cases [RCV000148260] Chr2:231770279..242126245 [GRCh38]
Chr2:232634989..243059659 [GRCh37]
Chr2:232343233..242717069 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
NM_000463.3(UGT1A1):c.1122T>C (p.Gly374=) single nucleotide variant Crigler-Najjar syndrome [RCV000359133]|Gilbert syndrome [RCV000324135]|Lucey-Driscoll syndrome [RCV000264419]|not provided [RCV000178105] Chr2:233768257 [GRCh38]
Chr2:234676903 [GRCh37]
Chr2:2q37.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000463.3(UGT1A1):c.1352C>T (p.Pro451Leu) single nucleotide variant Bilirubin, serum level of, quantitative trait locus 1 [RCV002478593]|not provided [RCV000178772] Chr2:233772309 [GRCh38]
Chr2:234680955 [GRCh37]
Chr2:2q37.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu) single nucleotide variant Bilirubin, serum level of, quantitative trait locus 1 [RCV000763479]|Crigler-Najjar syndrome type 1 [RCV001250229]|Gilbert syndrome [RCV000999562]|Hyperbilirubinemia [RCV000194762]|UGT1A1-related condition [RCV003401059]|not provided [RCV000300556]|not specified [RCV003987438] Chr2:233768226 [GRCh38]
Chr2:234676872 [GRCh37]
Chr2:2q37.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|other
NM_000463.3(UGT1A1):c.238_239insGTAC (p.Pro80fs) insertion Hyperbilirubinemia [RCV000193803]|UGT1A1-related condition [RCV003955175]|not provided [RCV003565392] Chr2:233760524..233760525 [GRCh38]
Chr2:234669170..234669171 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_000463.3(UGT1A1):c.722_723del (p.Glu241fs) microsatellite Crigler-Najjar syndrome type 1 [RCV001450051]|Hyperbilirubinemia [RCV000194838]|UGT1A1-Related Disorders [RCV003315235]|not provided [RCV000594736] Chr2:233761003..233761004 [GRCh38]
Chr2:234669649..234669650 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_000463.3(UGT1A1):c.1069C>T (p.Gln357Ter) single nucleotide variant not provided [RCV000378373] Chr2:233767921 [GRCh38]
Chr2:234676567 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_000463.3(UGT1A1):c.294T>C (p.Asn98=) single nucleotide variant Crigler-Najjar syndrome [RCV000376048]|Gilbert syndrome [RCV000321659]|Lucey-Driscoll syndrome [RCV000286475]|UGT1A1-related condition [RCV003910297]|not provided [RCV002057676] Chr2:233760581 [GRCh38]
Chr2:234669227 [GRCh37]
Chr2:2q37.1		 likely benign|uncertain significance
NM_000463.3(UGT1A1):c.1322T>C (p.Met441Thr) single nucleotide variant Crigler-Najjar syndrome [RCV000378763]|Gilbert syndrome [RCV000270243]|Lucey-Driscoll syndrome [RCV000325272]|UGT1A9-related condition [RCV003957727]|not provided [RCV000732528] Chr2:233772279 [GRCh38]
Chr2:234680925 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.*339G>C single nucleotide variant Crigler-Najjar syndrome [RCV000278221]|Gilbert syndrome [RCV000404223]|Lucey-Driscoll syndrome [RCV000338732] Chr2:233772898 [GRCh38]
Chr2:234681544 [GRCh37]
Chr2:2q37.1		 benign|likely benign
NM_000463.3(UGT1A1):c.*440G>C single nucleotide variant Crigler-Najjar syndrome [RCV000303713]|Gilbert syndrome [RCV000406231]|Lucey-Driscoll syndrome [RCV000358476] Chr2:233772999 [GRCh38]
Chr2:234681645 [GRCh37]
Chr2:2q37.1		 benign|likely benign
NM_000463.3(UGT1A1):c.300T>C (p.Phe100=) single nucleotide variant Crigler-Najjar syndrome [RCV000341435]|Gilbert syndrome [RCV000287802]|Lucey-Driscoll syndrome [RCV000381982]|not provided [RCV000731664] Chr2:233760587 [GRCh38]
Chr2:234669233 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.*201G>A single nucleotide variant Crigler-Najjar syndrome [RCV000384335]|Gilbert syndrome [RCV000331006]|Lucey-Driscoll syndrome [RCV000289955] Chr2:233772760 [GRCh38]
Chr2:234681406 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.*211T>C single nucleotide variant Crigler-Najjar syndrome [RCV000350782]|Gilbert syndrome [RCV000295923]|Lucey-Driscoll syndrome [RCV000385532]|not provided [RCV001636937] Chr2:233772770 [GRCh38]
Chr2:234681416 [GRCh37]
Chr2:2q37.1		 benign|likely benign
NM_000463.3(UGT1A1):c.477C>T (p.Ile159=) single nucleotide variant Crigler-Najjar syndrome [RCV000312449]|Gilbert syndrome [RCV000347475]|Lucey-Driscoll syndrome [RCV000405057]|not provided [RCV000598199] Chr2:233760764 [GRCh38]
Chr2:234669410 [GRCh37]
Chr2:2q37.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000463.3(UGT1A1):c.326T>C (p.Val109Ala) single nucleotide variant Crigler-Najjar syndrome [RCV001137634]|Gilbert syndrome [RCV001137635]|Lucey-Driscoll syndrome [RCV001137633]|UGT1A1-related condition [RCV003897650]|not provided [RCV000270224] Chr2:233760613 [GRCh38]
Chr2:234669259 [GRCh37]
Chr2:2q37.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000463.3(UGT1A1):c.1099C>T (p.Arg367Cys) single nucleotide variant Bilirubin, serum level of, quantitative trait locus 1 [RCV002480034]|UGT1A1-related condition [RCV003417905]|not provided [RCV000306415] Chr2:233768234 [GRCh38]
Chr2:234676880 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.1073A>C (p.Asn358Thr) single nucleotide variant not provided [RCV000342307] Chr2:233767925 [GRCh38]
Chr2:234676571 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.577G>A (p.Val193Met) single nucleotide variant Crigler-Najjar syndrome [RCV001140637]|Gilbert syndrome [RCV001139858]|Inborn genetic diseases [RCV002518136]|Lucey-Driscoll syndrome [RCV001140638]|not provided [RCV000344287] Chr2:233760864 [GRCh38]
Chr2:234669510 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.138C>T (p.Ala46=) single nucleotide variant not provided [RCV000314468] Chr2:233760425 [GRCh38]
Chr2:234669071 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.575A>G (p.Tyr192Cys) single nucleotide variant not provided [RCV000315749] Chr2:233760862 [GRCh38]
Chr2:234669508 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.137C>T (p.Ala46Val) single nucleotide variant Bilirubin, serum level of, quantitative trait locus 1 [RCV002504027]|not provided [RCV000386459] Chr2:233760424 [GRCh38]
Chr2:234669070 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.540A>G (p.Glu180=) single nucleotide variant Crigler-Najjar syndrome [RCV001139856]|Gilbert syndrome [RCV001139855]|Lucey-Driscoll syndrome [RCV001139857]|not provided [RCV000727204]|not specified [RCV000389831] Chr2:233760827 [GRCh38]
Chr2:234669473 [GRCh37]
Chr2:2q37.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000463.3(UGT1A1):c.1175C>T (p.Pro392Leu) single nucleotide variant not provided [RCV000286346] Chr2:233768310 [GRCh38]
Chr2:234676956 [GRCh37]
Chr2:2q37.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000463.3(UGT1A1):c.1324C>T (p.Arg442Cys) single nucleotide variant Bilirubin, serum level of, quantitative trait locus 1 [RCV000765634]|Crigler-Najjar syndrome [RCV001139988]|not provided [RCV000725932] Chr2:233772281 [GRCh38]
Chr2:234680927 [GRCh37]
Chr2:2q37.1		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_000463.3(UGT1A1):c.1001T>A (p.Leu334Gln) single nucleotide variant not provided [RCV000594635] Chr2:233767853 [GRCh38]
Chr2:234676499 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.801C>T (p.Pro267=) single nucleotide variant not provided [RCV000596531] Chr2:233761088 [GRCh38]
Chr2:234669734 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.*585G>T single nucleotide variant Crigler-Najjar syndrome [RCV000364364]|Gilbert syndrome [RCV000304991]|Lucey-Driscoll syndrome [RCV000394302] Chr2:233773144 [GRCh38]
Chr2:234681790 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.399C>G (p.Asn133Lys) single nucleotide variant not provided [RCV000598431] Chr2:233760686 [GRCh38]
Chr2:234669332 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.835A>T (p.Asn279Tyr) single nucleotide variant Crigler-Najjar syndrome, type II [RCV000987060]|UGT1A1-related condition [RCV003392429]|not provided [RCV000591882] Chr2:233761122 [GRCh38]
Chr2:234669768 [GRCh37]
Chr2:2q37.1		 pathogenic|uncertain significance
NM_000463.3(UGT1A1):c.1459C>T (p.His487Tyr) single nucleotide variant not provided [RCV000598546] Chr2:233772416 [GRCh38]
Chr2:234681062 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.1564G>A (p.Gly522Arg) single nucleotide variant not provided [RCV000591971] Chr2:233772521 [GRCh38]
Chr2:234681167 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.19G>A (p.Gly7Ser) single nucleotide variant not provided [RCV000592885] Chr2:233760306 [GRCh38]
Chr2:234668952 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.1208G>A (p.Arg403His) single nucleotide variant not provided [RCV000593141] Chr2:233768343 [GRCh38]
Chr2:234676989 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.1156G>A (p.Val386Ile) single nucleotide variant UGT1A1-related condition [RCV003962665]|not provided [RCV000591349] Chr2:233768291 [GRCh38]
Chr2:234676937 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.1108A>G (p.Ile370Val) single nucleotide variant Gilbert syndrome [RCV002289999]|not provided [RCV000730540] Chr2:233768243 [GRCh38]
Chr2:234676889 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.838T>G (p.Cys280Gly) single nucleotide variant Crigler-Najjar syndrome [RCV001142509]|Gilbert syndrome [RCV001142511]|Lucey-Driscoll syndrome [RCV001142510]|not provided [RCV000730662] Chr2:233761125 [GRCh38]
Chr2:234669771 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.1348C>T (p.Arg450Cys) single nucleotide variant UGT1A1-related condition [RCV003411677]|not provided [RCV000731951] Chr2:233772305 [GRCh38]
Chr2:234680951 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.142C>G (p.Gln48Glu) single nucleotide variant Crigler-Najjar syndrome [RCV001139762]|Gilbert syndrome [RCV001139763]|Lucey-Driscoll syndrome [RCV001139761]|not provided [RCV000733745] Chr2:233760429 [GRCh38]
Chr2:234669075 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.22G>A (p.Gly8Arg) single nucleotide variant not provided [RCV000733748] Chr2:233760309 [GRCh38]
Chr2:234668955 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.159G>A (p.Arg53=) single nucleotide variant UGT1A1-related condition [RCV003955477]|not provided [RCV000734333] Chr2:233760446 [GRCh38]
Chr2:234669092 [GRCh37]
Chr2:2q37.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_000463.3(UGT1A1):c.1060T>A (p.Trp354Arg) single nucleotide variant not provided [RCV000733106] Chr2:233767912 [GRCh38]
Chr2:234676558 [GRCh37]
Chr2:2q37.1		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000463.3(UGT1A1):c.1458C>T (p.Tyr486=) single nucleotide variant not provided [RCV000733119] Chr2:233772415 [GRCh38]
Chr2:234681061 [GRCh37]
Chr2:2q37.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000463.3(UGT1A1):c.195G>A (p.Ser65=) single nucleotide variant not provided [RCV000735145] Chr2:233760482 [GRCh38]
Chr2:234669128 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.1100G>T (p.Arg367Leu) single nucleotide variant not provided [RCV000728545] Chr2:233768235 [GRCh38]
Chr2:234676881 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_001072.4(UGT1A6):c.862-6799_862-6798insTA insertion Gilbert syndrome [RCV000999559]|UGT1A1-Related Disorders [RCV003315252]|not provided [RCV000730016] Chr2:233760235..233760236 [GRCh38]
Chr2:234668881..234668882 [GRCh37]
Chr2:2q37.1		 pathogenic|other
NM_000463.3(UGT1A1):c.817G>T (p.Val273Phe) single nucleotide variant not provided [RCV000731403] Chr2:233761104 [GRCh38]
Chr2:234669750 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.167A>C (p.Glu56Ala) single nucleotide variant Crigler-Najjar syndrome [RCV001140529]|Gilbert syndrome [RCV001140530]|Lucey-Driscoll syndrome [RCV001140528]|not provided [RCV000732295] Chr2:233760454 [GRCh38]
Chr2:234669100 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.-4C>T single nucleotide variant not provided [RCV000733270] Chr2:233760284 [GRCh38]
Chr2:234668930 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.1110_1150delinsGC (p.Ile370_Asn384delinsMetHis) indel not provided [RCV000731500] Chr2:233768245..233768285 [GRCh38]
Chr2:234676891..234676931 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.1160_1161delinsGT (p.Pro387Arg) indel not provided [RCV000733308] Chr2:233768295..233768296 [GRCh38]
Chr2:234676941..234676942 [GRCh37]
Chr2:2q37.1		 likely pathogenic
NM_000463.3(UGT1A1):c.1026A>T (p.Pro342=) single nucleotide variant not provided [RCV000734728] Chr2:233767878 [GRCh38]
Chr2:234676524 [GRCh37]
Chr2:2q37.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000463.3(UGT1A1):c.428G>A (p.Ser143Asn) single nucleotide variant not provided [RCV000732619] Chr2:233760715 [GRCh38]
Chr2:234669361 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.386A>G (p.His129Arg) single nucleotide variant Crigler-Najjar syndrome [RCV001137639]|Gilbert syndrome [RCV001137640]|Lucey-Driscoll syndrome [RCV001139854]|not provided [RCV000729869] Chr2:233760673 [GRCh38]
Chr2:234669319 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.1170G>A (p.Met390Ile) single nucleotide variant not provided [RCV000732927] Chr2:233768305 [GRCh38]
Chr2:234676951 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.1470C>T (p.Asp490=) single nucleotide variant not provided [RCV000731910] Chr2:233772427 [GRCh38]
Chr2:234681073 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.1455G>A (p.Gln485=) single nucleotide variant not provided [RCV000731934] Chr2:233772412 [GRCh38]
Chr2:234681058 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.1544G>T (p.Arg515Leu) single nucleotide variant not provided [RCV000731935] Chr2:233772501 [GRCh38]
Chr2:234681147 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.1349G>A (p.Arg450His) single nucleotide variant UGT1A1-related condition [RCV003420314]|not provided [RCV000734944] Chr2:233772306 [GRCh38]
Chr2:234680952 [GRCh37]
Chr2:2q37.1		 uncertain significance
GRCh37/hg19 2q37.1(chr2:232215111-235593473)x1 copy number loss See cases [RCV000446723] Chr2:232215111..235593473 [GRCh37]
Chr2:2q37.1		 likely pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:234495262-242783384)x1 copy number loss See cases [RCV000446061] Chr2:234495262..242783384 [GRCh37]
Chr2:2q37.1-37.3		 pathogenic
GRCh37/hg19 2q35-37.3(chr2:219966808-237815985)x3 copy number gain See cases [RCV000448049] Chr2:219966808..237815985 [GRCh37]
Chr2:2q35-37.3		 pathogenic
NM_000463.3(UGT1A1):c.1084G>A (p.Gly362Ser) single nucleotide variant UGT1A1-related condition [RCV003419798]|not provided [RCV000482866] Chr2:233767936 [GRCh38]
Chr2:234676582 [GRCh37]
Chr2:2q37.1		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:234495262-242783384)x1 copy number loss See cases [RCV000512077] Chr2:234495262..242783384 [GRCh37]
Chr2:2q37.1-37.3		 pathogenic
NM_000463.3(UGT1A1):c.625C>T (p.Arg209Trp) single nucleotide variant Crigler-Najjar syndrome [RCV000503589]|Crigler-Najjar syndrome, type II [RCV001727734]|Inborn genetic diseases [RCV000623653]|UGT1A1-related condition [RCV003403178]|not provided [RCV002508784] Chr2:233760912 [GRCh38]
Chr2:234669558 [GRCh37]
Chr2:2q37.1		 pathogenic|likely pathogenic
NM_000463.3(UGT1A1):c.1006C>T (p.Arg336Trp) single nucleotide variant Crigler-Najjar syndrome [RCV000503685]|not provided [RCV000730191] Chr2:233767858 [GRCh38]
Chr2:234676504 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_000463.3(UGT1A1):c.222C>A (p.Tyr74Ter) single nucleotide variant Crigler-Najjar syndrome [RCV000501478]|not provided [RCV000597815] Chr2:233760509 [GRCh38]
Chr2:234669155 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_000463.3(UGT1A1):c.592T>C (p.Ser198Pro) single nucleotide variant not specified [RCV000501526] Chr2:233760879 [GRCh38]
Chr2:234669525 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.609_632del (p.His203_Lys211delinsGln) deletion Crigler-Najjar syndrome [RCV000503758]|not provided [RCV001857182] Chr2:233760895..233760918 [GRCh38]
Chr2:234669541..234669564 [GRCh37]
Chr2:2q37.1		 pathogenic|likely pathogenic
NM_000463.3(UGT1A1):c.72G>A (p.Val24=) single nucleotide variant Bilirubin, serum level of, quantitative trait locus 1 [RCV002496961]|not specified [RCV000499372] Chr2:233760359 [GRCh38]
Chr2:234669005 [GRCh37]
Chr2:2q37.1		 likely benign
NM_000463.3(UGT1A1):c.622_625dup (p.Arg209fs) duplication Crigler-Najjar syndrome [RCV000500693]|not provided [RCV000598144] Chr2:233760908..233760909 [GRCh38]
Chr2:234669555..234669558 [GRCh37]
Chr2:2q37.1		 pathogenic
GRCh37/hg19 2q36.1-37.3(chr2:222077224-239394441)x3 copy number gain See cases [RCV000511816] Chr2:222077224..239394441 [GRCh37]
Chr2:2q36.1-37.3		 pathogenic
GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3 copy number gain See cases [RCV000512009] Chr2:213518431..242783384 [GRCh37]
Chr2:2q34-37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q37.1(chr2:234401465-235250353)x1 copy number loss See cases [RCV000510939] Chr2:234401465..235250353 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.996+18C>T single nucleotide variant not provided [RCV001523096] Chr2:233767183 [GRCh38]
Chr2:234675829 [GRCh37]
Chr2:2q37.1		 benign
Single allele duplication Crigler Najjar syndrome, type 1 [RCV000598144] Chr2:234669555..234669558 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_000463.3(UGT1A1):c.1085G>T (p.Gly362Val) single nucleotide variant UGT1A1-related condition [RCV003945384]|not provided [RCV000595778] Chr2:233768220 [GRCh38]
Chr2:234676866 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.1555G>A (p.Gly519Arg) single nucleotide variant not provided [RCV000595876] Chr2:233772512 [GRCh38]
Chr2:234681158 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.1207C>T (p.Arg403Cys) single nucleotide variant Bilirubin, serum level of, quantitative trait locus 1 [RCV000765633]|not provided [RCV000595005] Chr2:233768342 [GRCh38]
Chr2:234676988 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.1558A>G (p.Lys520Glu) single nucleotide variant not provided [RCV000595503] Chr2:233772515 [GRCh38]
Chr2:234681161 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.189C>T (p.Asp63=) single nucleotide variant Crigler-Najjar syndrome [RCV001140532]|Gilbert syndrome [RCV001140531]|Lucey-Driscoll syndrome [RCV001140533]|UGT1A1-related condition [RCV003980091]|not provided [RCV000596864] Chr2:233760476 [GRCh38]
Chr2:234669122 [GRCh37]
Chr2:2q37.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000463.3(UGT1A1):c.210C>G (p.Asp70Glu) single nucleotide variant not provided [RCV000595368] Chr2:233760497 [GRCh38]
Chr2:234669143 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.1495G>A (p.Val499Met) single nucleotide variant not provided [RCV000513472] Chr2:233772452 [GRCh38]
Chr2:234681098 [GRCh37]
Chr2:2q37.1		 uncertain significance
UGT1A1*36 microsatellite Irinotecan response [RCV000664406]|UGT1A9-related condition [RCV003965423]|not provided [RCV001515198] Chr2:233760234..233760235 [GRCh38]
Chr2:234668880..234668881 [GRCh37]
Chr2:2q37.1		 benign|drug response
UGT1A1*37 microsatellite Irinotecan response [RCV000664405]|UGT1A9-related condition [RCV003892146]|not provided [RCV001508486] Chr2:233760233..233760234 [GRCh38]
Chr2:234668879..234668880 [GRCh37]
Chr2:2q37.1		 pathogenic|conflicting interpretations of pathogenicity|drug response|uncertain significance
UGT1A1*1 microsatellite Irinotecan response [RCV000664402] Chr2:233760235..233760248 [GRCh38]
Chr2:234668881..234668894 [GRCh37]
Chr2:2q37.1		 drug response
GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3 copy number gain not provided [RCV000682170] Chr2:219225872..242016876 [GRCh37]
Chr2:2q35-37.3		 pathogenic
NM_019076.5(UGT1A8):c.988-82T>C single nucleotide variant not provided [RCV001692534] Chr2:233767767 [GRCh38]
Chr2:234676413 [GRCh37]
Chr2:2q37.1		 benign
NM_000463.3(UGT1A1):c.1445C>T (p.Thr482Ile) single nucleotide variant not provided [RCV001812912] Chr2:233772402 [GRCh38]
Chr2:234681048 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.964A>G (p.Ile322Val) single nucleotide variant Crigler-Najjar syndrome [RCV001142513]|Gilbert syndrome [RCV001142514]|Lucey-Driscoll syndrome [RCV001142512]|not provided [RCV000898514] Chr2:233767133 [GRCh38]
Chr2:234675779 [GRCh37]
Chr2:2q37.1		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000463.3(UGT1A1):c.672C>T (p.Asp224=) single nucleotide variant not provided [RCV000902971] Chr2:233760959 [GRCh38]
Chr2:234669605 [GRCh37]
Chr2:2q37.1		 likely benign
NM_000463.3(UGT1A1):c.1084+7T>C single nucleotide variant not provided [RCV000943280] Chr2:233767943 [GRCh38]
Chr2:234676589 [GRCh37]
Chr2:2q37.1		 likely benign
NM_000463.3(UGT1A1):c.1494C>T (p.Val498=) single nucleotide variant not provided [RCV000919303] Chr2:233772451 [GRCh38]
Chr2:234681097 [GRCh37]
Chr2:2q37.1		 likely benign
NM_000463.3(UGT1A1):c.414C>G (p.Ala138=) single nucleotide variant not provided [RCV000925296] Chr2:233760701 [GRCh38]
Chr2:234669347 [GRCh37]
Chr2:2q37.1		 likely benign
NM_000463.3(UGT1A1):c.282T>C (p.Ser94=) single nucleotide variant UGT1A1-related condition [RCV003895536]|not provided [RCV000909203] Chr2:233760569 [GRCh38]
Chr2:234669215 [GRCh37]
Chr2:2q37.1		 likely benign
NM_000463.3(UGT1A1):c.933C>A (p.Val311=) single nucleotide variant not provided [RCV000879248] Chr2:233767102 [GRCh38]
Chr2:234675748 [GRCh37]
Chr2:2q37.1		 likely benign
NM_000463.3(UGT1A1):c.733C>T (p.Gln245Ter) single nucleotide variant UGT1A1-Related Disorders [RCV000779314] Chr2:233761020 [GRCh38]
Chr2:234669666 [GRCh37]
Chr2:2q37.1		 uncertain significance
GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3 copy number gain See cases [RCV000790568] Chr2:210779657..239879183 [GRCh37]
Chr2:2q34-37.3		 pathogenic
NM_000463.3(UGT1A1):c.*188T>G single nucleotide variant Crigler-Najjar syndrome [RCV001137855]|Gilbert syndrome [RCV001137857]|Lucey-Driscoll syndrome [RCV001137856] Chr2:233772747 [GRCh38]
Chr2:234681393 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.*674G>A single nucleotide variant Crigler-Najjar syndrome [RCV001138391]|Gilbert syndrome [RCV001138392]|Lucey-Driscoll syndrome [RCV001138390] Chr2:233773233 [GRCh38]
Chr2:234681879 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.239_240insGTAC (p.Val81fs) insertion not specified [RCV001001244] Chr2:233760525..233760526 [GRCh38]
Chr2:234669171..234669172 [GRCh37]
Chr2:2q37.1		 pathogenic
NC_000002.12:g.233760235TA[5_11] microsatellite Levothyroxine response [RCV003317021] Chr2:233760235..233760246 [GRCh38]
Chr2:2q37.1		 other
GRCh37/hg19 2q36.3-37.3(chr2:230814690-242783384)x3 copy number gain not provided [RCV001007519] Chr2:230814690..242783384 [GRCh37]
Chr2:2q36.3-37.3		 pathogenic
NM_000463.3(UGT1A1):c.1349G>T (p.Arg450Leu) single nucleotide variant Crigler-Najjar syndrome, type II [RCV003108246] Chr2:233772306 [GRCh38]
Chr2:234680952 [GRCh37]
Chr2:2q37.1		 likely pathogenic
NM_000463.3(UGT1A1):c.931del (p.Val311fs) deletion Crigler-Najjar syndrome type 1 [RCV001559125] Chr2:233767099 [GRCh38]
Chr2:234675745 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_000463.3(UGT1A1):c.669C>T (p.Cys223=) single nucleotide variant not provided [RCV000907601] Chr2:233760956 [GRCh38]
Chr2:234669602 [GRCh37]
Chr2:2q37.1		 likely benign
NM_000463.3(UGT1A1):c.*301G>A single nucleotide variant Crigler-Najjar syndrome [RCV001140869]|Gilbert syndrome [RCV001140870]|Lucey-Driscoll syndrome [RCV001140871] Chr2:233772860 [GRCh38]
Chr2:234681506 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.*84T>C single nucleotide variant Crigler-Najjar syndrome [RCV001142611]|Gilbert syndrome [RCV001142613]|Lucey-Driscoll syndrome [RCV001142612] Chr2:233772643 [GRCh38]
Chr2:234681289 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_021027.3(UGT1A9):c.1443C>T (p.Tyr481=) single nucleotide variant not provided [RCV000912430] Chr2:233772409 [GRCh38]
Chr2:234681055 [GRCh37]
Chr2:2q37.1		 likely benign
NM_000463.3(UGT1A1):c.1220del (p.Lys407fs) deletion Crigler-Najjar syndrome, type II [RCV002466687]|not provided [RCV001573511] Chr2:233768354 [GRCh38]
Chr2:234677000 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_019076.5(UGT1A8):c.988-100_988-99dup duplication not provided [RCV001655533] Chr2:233767747..233767748 [GRCh38]
Chr2:234676393..234676394 [GRCh37]
Chr2:2q37.1		 benign
NM_019076.5(UGT1A8):c.1076-79G>A single nucleotide variant not provided [RCV001718427] Chr2:233768141 [GRCh38]
Chr2:234676787 [GRCh37]
Chr2:2q37.1		 benign
NM_000463.3(UGT1A1):c.1548A>T (p.Lys516Asn) single nucleotide variant Crigler-Najjar syndrome [RCV001142608]|Gilbert syndrome [RCV001142610]|Lucey-Driscoll syndrome [RCV001142609]|not provided [RCV002557037] Chr2:233772505 [GRCh38]
Chr2:234681151 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_001072.4(UGT1A6):c.862-9898G>A single nucleotide variant Gilbert syndrome [RCV000999558]|irinotecan response - Toxicity [RCV001788391] Chr2:233757136 [GRCh38]
Chr2:234665782 [GRCh37]
Chr2:2q37.1		 likely benign|drug response
NM_000463.3(UGT1A1):c.864+2925T>G single nucleotide variant Gilbert syndrome [RCV000999561] Chr2:233764076 [GRCh38]
Chr2:234672722 [GRCh37]
Chr2:2q37.1		 benign
NM_000463.3(UGT1A1):c.361G>C (p.Ala121Pro) single nucleotide variant Crigler-Najjar syndrome [RCV001137636]|Gilbert syndrome [RCV001137638]|Lucey-Driscoll syndrome [RCV001137637] Chr2:233760648 [GRCh38]
Chr2:234669294 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.288G>A (p.Gly96=) single nucleotide variant Crigler-Najjar syndrome [RCV001142380]|Gilbert syndrome [RCV001142381]|Lucey-Driscoll syndrome [RCV001140534] Chr2:233760575 [GRCh38]
Chr2:234669221 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.*269C>T single nucleotide variant Crigler-Najjar syndrome [RCV001140867]|Gilbert syndrome [RCV001140868]|Lucey-Driscoll syndrome [RCV001140106] Chr2:233772828 [GRCh38]
Chr2:234681474 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.1410C>T (p.Gly470=) single nucleotide variant Crigler-Najjar syndrome [RCV001139989]|Gilbert syndrome [RCV001140740]|Lucey-Driscoll syndrome [RCV001139990] Chr2:233772367 [GRCh38]
Chr2:234681013 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.1411G>A (p.Ala471Thr) single nucleotide variant Crigler-Najjar syndrome [RCV001140743]|Gilbert syndrome [RCV001140741]|Lucey-Driscoll syndrome [RCV001140742]|UGT1A1-related condition [RCV003405344] Chr2:233772368 [GRCh38]
Chr2:234681014 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_019076.5(UGT1A8):c.1296-229A>C single nucleotide variant not provided [RCV001681735] Chr2:233772033 [GRCh38]
Chr2:234680679 [GRCh37]
Chr2:2q37.1		 benign
NM_019076.5(UGT1A8):c.988-37T>C single nucleotide variant not provided [RCV001671504] Chr2:233767812 [GRCh38]
Chr2:234676458 [GRCh37]
Chr2:2q37.1		 benign
NM_019076.5(UGT1A8):c.988-83C>T single nucleotide variant not provided [RCV001694717] Chr2:233767766 [GRCh38]
Chr2:234676412 [GRCh37]
Chr2:2q37.1		 benign
NM_000463.3(UGT1A1):c.1180T>C (p.Phe394Leu) single nucleotide variant Crigler-Najjar syndrome [RCV001137750]|Gilbert syndrome [RCV001139987]|Lucey-Driscoll syndrome [RCV001139986] Chr2:233768315 [GRCh38]
Chr2:234676961 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.*133G>A single nucleotide variant Crigler-Najjar syndrome [RCV001137852]|Gilbert syndrome [RCV001137853]|Lucey-Driscoll syndrome [RCV001137854] Chr2:233772692 [GRCh38]
Chr2:234681338 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.*419T>C single nucleotide variant Crigler-Najjar syndrome [RCV001142717]|Gilbert syndrome [RCV001142719]|Lucey-Driscoll syndrome [RCV001142718] Chr2:233772978 [GRCh38]
Chr2:234681624 [GRCh37]
Chr2:2q37.1		 benign|uncertain significance
NM_000463.3(UGT1A1):c.1518C>A (p.Thr506=) single nucleotide variant Crigler-Najjar syndrome [RCV001142606]|Gilbert syndrome [RCV001140747]|Lucey-Driscoll syndrome [RCV001142607] Chr2:233772475 [GRCh38]
Chr2:234681121 [GRCh37]
Chr2:2q37.1		 uncertain significance
GRCh37/hg19 2q37.1-37.3(chr2:234090049-239494702)x1 copy number loss not provided [RCV001007520] Chr2:234090049..239494702 [GRCh37]
Chr2:2q37.1-37.3		 pathogenic
NM_000463.3(UGT1A1):c.25C>T (p.Arg9Cys) single nucleotide variant Crigler-Najjar syndrome [RCV001139757]|Gilbert syndrome [RCV001137542]|Lucey-Driscoll syndrome [RCV001139756] Chr2:233760312 [GRCh38]
Chr2:234668958 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.1028C>T (p.Ser343Leu) single nucleotide variant UGT1A1-related condition [RCV003413794]|not provided [RCV003103885] Chr2:233767880 [GRCh38]
Chr2:234676526 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.*461G>T single nucleotide variant Crigler-Najjar syndrome [RCV001137974]|Gilbert syndrome [RCV001137973]|Lucey-Driscoll syndrome [RCV001137975] Chr2:233773020 [GRCh38]
Chr2:234681666 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.584G>A (p.Arg195Lys) single nucleotide variant Crigler-Najjar syndrome [RCV001140639]|Gilbert syndrome [RCV001140641]|Inborn genetic diseases [RCV002556996]|Lucey-Driscoll syndrome [RCV001140640]|not provided [RCV001858918] Chr2:233760871 [GRCh38]
Chr2:234669517 [GRCh37]
Chr2:2q37.1		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_000463.3(UGT1A1):c.389dup (p.Leu130fs) duplication Crigler-Najjar syndrome type 1 [RCV001543696] Chr2:233760674..233760675 [GRCh38]
Chr2:234669320..234669321 [GRCh37]
Chr2:2q37.1		 pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:233110452-243028452)x1 copy number loss Chromosome 2q37 deletion syndrome [RCV001263221] Chr2:233110452..243028452 [GRCh37]
Chr2:2q37.1-37.3		 pathogenic
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3		 pathogenic
NM_000463.3(UGT1A1):c.175G>T (p.Val59Phe) single nucleotide variant not provided [RCV001531353] Chr2:233760462 [GRCh38]
Chr2:234669108 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.679dup (p.Tyr227fs) duplication not provided [RCV001382093] Chr2:233760963..233760964 [GRCh38]
Chr2:234669609..234669610 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_000463.3(UGT1A1):c.1305-15T>C single nucleotide variant not provided [RCV001508488] Chr2:233772247 [GRCh38]
Chr2:234680893 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.380_381insGG (p.Cys127fs) insertion Crigler-Najjar syndrome type 1 [RCV001509551] Chr2:233760666..233760667 [GRCh38]
Chr2:234669312..234669313 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_019076.5(UGT1A8):c.856-113C>T single nucleotide variant not provided [RCV001715892] Chr2:233766921 [GRCh38]
Chr2:234675567 [GRCh37]
Chr2:2q37.1		 benign
NM_019076.5(UGT1A8):c.987+307A>G single nucleotide variant not provided [RCV001715863] Chr2:233767472 [GRCh38]
Chr2:234676118 [GRCh37]
Chr2:2q37.1		 benign
NM_019076.5(UGT1A8):c.856-5794C>T single nucleotide variant not provided [RCV001694434] Chr2:233761240 [GRCh38]
Chr2:234669886 [GRCh37]
Chr2:2q37.1		 benign
NM_000463.3(UGT1A1):c.1060T>G (p.Trp354Gly) single nucleotide variant UGT1A1-related disorder [RCV002280264] Chr2:233767912 [GRCh38]
Chr2:234676558 [GRCh37]
Chr2:2q37.1		 likely pathogenic
NM_000463.3(UGT1A1):c.80_93del (p.Ala27fs) deletion not provided [RCV001784004] Chr2:233760365..233760378 [GRCh38]
Chr2:234669011..234669024 [GRCh37]
Chr2:2q37.1		 pathogenic|likely pathogenic
NM_000463.3(UGT1A1):c.1525TGT[1] (p.Cys510del) microsatellite not provided [RCV001811815] Chr2:233772482..233772484 [GRCh38]
Chr2:234681128..234681130 [GRCh37]
Chr2:2q37.1		 uncertain significance
GRCh37/hg19 2q37.1-37.3(chr2:233227837-242783384) copy number loss Chromosome 2q37 deletion syndrome [RCV002280739] Chr2:233227837..242783384 [GRCh37]
Chr2:2q37.1-37.3		 pathogenic
NM_000463.3(UGT1A1):c.826G>C (p.Gly276Arg) single nucleotide variant Crigler-Najjar syndrome, type II [RCV001808119] Chr2:233761113 [GRCh38]
Chr2:234669759 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_000463.3(UGT1A1):c.1130G>T (p.Gly377Val) single nucleotide variant not provided [RCV001817729]|not specified [RCV003317533] Chr2:233768265 [GRCh38]
Chr2:234676911 [GRCh37]
Chr2:2q37.1		 pathogenic|uncertain significance
NM_000463.3(UGT1A1):c.1381T>C (p.Trp461Arg) single nucleotide variant UGT1A1-related condition [RCV003941167]|not provided [RCV001817805] Chr2:233772338 [GRCh38]
Chr2:234680984 [GRCh37]
Chr2:2q37.1		 pathogenic|likely pathogenic
NM_000463.3(UGT1A1):c.996+2_996+5del deletion not provided [RCV001817728] Chr2:233767165..233767168 [GRCh38]
Chr2:234675811..234675814 [GRCh37]
Chr2:2q37.1		 likely pathogenic
NM_000463.3(UGT1A1):c.1043del (p.Asn348fs) deletion not provided [RCV001817750] Chr2:233767894 [GRCh38]
Chr2:234676540 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_000463.3(UGT1A1):c.269_270del (p.Glu90fs) microsatellite not provided [RCV001817823] Chr2:233760554..233760555 [GRCh38]
Chr2:234669200..234669201 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_000463.3(UGT1A1):c.530G>A (p.Cys177Tyr) single nucleotide variant not provided [RCV001817838] Chr2:233760817 [GRCh38]
Chr2:234669463 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_000463.3(UGT1A1):c.471C>T (p.Ser157=) single nucleotide variant UGT1A1-related condition [RCV003913381]|not provided [RCV001811725] Chr2:233760758 [GRCh38]
Chr2:234669404 [GRCh37]
Chr2:2q37.1		 likely benign
NM_000463.3(UGT1A1):c.573del (p.Tyr192fs) deletion not provided [RCV001817998] Chr2:233760859 [GRCh38]
Chr2:234669505 [GRCh37]
Chr2:2q37.1		 likely pathogenic
NM_000463.3(UGT1A1):c.1155C>T (p.Gly385=) single nucleotide variant UGT1A1-related condition [RCV003968674]|not provided [RCV002001719] Chr2:233768290 [GRCh38]
Chr2:234676936 [GRCh37]
Chr2:2q37.1		 likely benign
NM_000463.3(UGT1A1):c.996+1G>A single nucleotide variant not provided [RCV001810760] Chr2:233767166 [GRCh38]
Chr2:234675812 [GRCh37]
Chr2:2q37.1		 likely pathogenic
NM_000463.3(UGT1A1):c.131T>A (p.Leu44His) single nucleotide variant not provided [RCV001811920] Chr2:233760418 [GRCh38]
Chr2:234669064 [GRCh37]
Chr2:2q37.1		 uncertain significance
GRCh37/hg19 2q37.1-37.2(chr2:234390282-236327203) copy number loss not specified [RCV002053295] Chr2:234390282..236327203 [GRCh37]
Chr2:2q37.1-37.2		 uncertain significance
GRCh37/hg19 2q35-37.3(chr2:219606537-239217703) copy number loss not specified [RCV002053285] Chr2:219606537..239217703 [GRCh37]
Chr2:2q35-37.3		 pathogenic
GRCh37/hg19 2q37.1-37.2(chr2:234613080-236824976) copy number loss not specified [RCV002053296] Chr2:234613080..236824976 [GRCh37]
Chr2:2q37.1-37.2		 uncertain significance
NM_000463.3(UGT1A1):c.1568G>A (p.Arg523Gln) single nucleotide variant UGT1A1-related condition [RCV003958457]|not provided [RCV002022208] Chr2:233772525 [GRCh38]
Chr2:234681171 [GRCh37]
Chr2:2q37.1		 uncertain significance
GRCh37/hg19 2q37.1(chr2:232215111-235593473) copy number loss not specified [RCV002053294] Chr2:232215111..235593473 [GRCh37]
Chr2:2q37.1		 likely pathogenic
NM_000463.3(UGT1A1):c.865G>A (p.Glu289Lys) single nucleotide variant not provided [RCV001914047] Chr2:233767034 [GRCh38]
Chr2:234675680 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.358T>C (p.Ser120Pro) single nucleotide variant Crigler-Najjar syndrome, type II [RCV001823558]|not provided [RCV003136180] Chr2:233760645 [GRCh38]
Chr2:234669291 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.686C>T (p.Pro229Leu) single nucleotide variant Bilirubin, serum level of, quantitative trait locus 1 [RCV002503572]|not provided [RCV001913560] Chr2:233760973 [GRCh38]
Chr2:234669619 [GRCh37]
Chr2:2q37.1		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 2q36.3-37.1(chr2:228807574-235475892) copy number loss not specified [RCV002053291] Chr2:228807574..235475892 [GRCh37]
Chr2:2q36.3-37.1		 pathogenic
NM_000463.3(UGT1A1):c.559C>T (p.Pro187Ser) single nucleotide variant not provided [RCV002043643] Chr2:233760846 [GRCh38]
Chr2:234669492 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_001072.4(UGT1A6):c.862-6796A>G single nucleotide variant not provided [RCV001924232] Chr2:233760238 [GRCh38]
Chr2:234668884 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.849A>G (p.Gln283=) single nucleotide variant not provided [RCV001884798] Chr2:233761136 [GRCh38]
Chr2:234669782 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.1071A>G (p.Gln357=) single nucleotide variant UGT1A1-related condition [RCV003948764]|not provided [RCV002051308] Chr2:233767923 [GRCh38]
Chr2:234676569 [GRCh37]
Chr2:2q37.1		 likely benign|uncertain significance
NM_000463.3(UGT1A1):c.977T>A (p.Leu326Ter) single nucleotide variant not provided [RCV001963056] Chr2:233767146 [GRCh38]
Chr2:234675792 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_000463.3(UGT1A1):c.1307A>G (p.Tyr436Cys) single nucleotide variant not provided [RCV002051536] Chr2:233772264 [GRCh38]
Chr2:234680910 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.1022G>A (p.Arg341Gln) single nucleotide variant Gilbert syndrome [RCV002221166]|not provided [RCV001936126] Chr2:233767874 [GRCh38]
Chr2:234676520 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.643A>G (p.Ile215Val) single nucleotide variant not provided [RCV001935712] Chr2:233760930 [GRCh38]
Chr2:234669576 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.578T>A (p.Val193Glu) single nucleotide variant not provided [RCV001994959] Chr2:233760865 [GRCh38]
Chr2:234669511 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.1361C>T (p.Pro454Leu) single nucleotide variant not provided [RCV002011633] Chr2:233772318 [GRCh38]
Chr2:234680964 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.287G>A (p.Gly96Glu) single nucleotide variant not provided [RCV001875239] Chr2:233760574 [GRCh38]
Chr2:234669220 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.1475T>C (p.Ile492Thr) single nucleotide variant not provided [RCV001917540] Chr2:233772432 [GRCh38]
Chr2:234681078 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.72dup (p.Ser25fs) duplication not provided [RCV001956317] Chr2:233760358..233760359 [GRCh38]
Chr2:234669004..234669005 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_000463.3(UGT1A1):c.182C>G (p.Ala61Gly) single nucleotide variant Gilbert syndrome [RCV002221165]|not provided [RCV001884843] Chr2:233760469 [GRCh38]
Chr2:234669115 [GRCh37]
Chr2:2q37.1		 likely pathogenic|uncertain significance
NM_000463.3(UGT1A1):c.1463C>T (p.Ser488Phe) single nucleotide variant not provided [RCV002015911]|not specified [RCV003323971] Chr2:233772420 [GRCh38]
Chr2:234681066 [GRCh37]
Chr2:2q37.1		 likely pathogenic|uncertain significance
NC_000002.11:g.(?_231033840)_(234978657_?)dup duplication Joubert syndrome 22 [RCV001877690]|Perlman syndrome [RCV001877689] Chr2:231033840..234978657 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.1373C>T (p.Ala458Val) single nucleotide variant not provided [RCV001937913] Chr2:233772330 [GRCh38]
Chr2:234680976 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.1185T>G (p.Gly395=) single nucleotide variant not provided [RCV002206878] Chr2:233768320 [GRCh38]
Chr2:234676966 [GRCh37]
Chr2:2q37.1		 likely benign
NM_000463.3(UGT1A1):c.900T>C (p.His300=) single nucleotide variant not provided [RCV002097912] Chr2:233767069 [GRCh38]
Chr2:234675715 [GRCh37]
Chr2:2q37.1		 likely benign
NM_000463.3(UGT1A1):c.2_17del (p.Met1fs) deletion Gilbert syndrome [RCV002226966] Chr2:233760286..233760301 [GRCh38]
Chr2:234668932..234668947 [GRCh37]
Chr2:2q37.1		 likely pathogenic
NM_000463.3(UGT1A1):c.990T>C (p.Pro330=) single nucleotide variant UGT1A1-related condition [RCV003933507]|not provided [RCV002160468] Chr2:233767159 [GRCh38]
Chr2:234675805 [GRCh37]
Chr2:2q37.1		 likely benign
NM_000463.3(UGT1A1):c.917C>T (p.Ser306Phe) single nucleotide variant Gilbert syndrome [RCV002221190] Chr2:233767086 [GRCh38]
Chr2:234675732 [GRCh37]
Chr2:2q37.1		 likely pathogenic
NM_000463.3(UGT1A1):c.36C>T (p.Val12=) single nucleotide variant not provided [RCV002136316] Chr2:233760323 [GRCh38]
Chr2:234668969 [GRCh37]
Chr2:2q37.1		 likely benign
NM_000463.3(UGT1A1):c.1270G>T (p.Glu424Ter) single nucleotide variant Gilbert syndrome [RCV002221172] Chr2:233768405 [GRCh38]
Chr2:234677051 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_000463.3(UGT1A1):c.200A>T (p.Tyr67Phe) single nucleotide variant Gilbert syndrome [RCV002221187] Chr2:233760487 [GRCh38]
Chr2:234669133 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.492_493del (p.Leu166fs) deletion Gilbert syndrome [RCV002221188] Chr2:233760778..233760779 [GRCh38]
Chr2:234669424..234669425 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_000463.3(UGT1A1):c.719G>A (p.Arg240Lys) single nucleotide variant Gilbert syndrome [RCV002221189] Chr2:233761006 [GRCh38]
Chr2:234669652 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.757G>T (p.Val253Phe) single nucleotide variant not provided [RCV003110768] Chr2:233761044 [GRCh38]
Chr2:234669690 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.1382G>A (p.Trp461Ter) single nucleotide variant not provided [RCV003111951] Chr2:233772339 [GRCh38]
Chr2:234680985 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_000463.3(UGT1A1):c.1002del (p.Trp335fs) deletion not provided [RCV003115001] Chr2:233767854 [GRCh38]
Chr2:234676500 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_000463.3(UGT1A1):c.107A>G (p.Asp36Gly) single nucleotide variant not provided [RCV003120145] Chr2:233760394 [GRCh38]
Chr2:234669040 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.57G>A (p.Val19=) single nucleotide variant UGT1A1-related condition [RCV003946439]|not provided [RCV003120153] Chr2:233760344 [GRCh38]
Chr2:234668990 [GRCh37]
Chr2:2q37.1		 likely benign
NM_000463.3(UGT1A1):c.741A>G (p.Leu247=) single nucleotide variant not provided [RCV003120248] Chr2:233761028 [GRCh38]
Chr2:234669674 [GRCh37]
Chr2:2q37.1		 likely benign
NM_000463.3(UGT1A1):c.510C>A (p.Phe170Leu) single nucleotide variant UGT1A1-related condition [RCV003900957]|not provided [RCV003120353] Chr2:233760797 [GRCh38]
Chr2:234669443 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.1412C>T (p.Ala471Val) single nucleotide variant UGT1A1-related condition [RCV003971197]|not provided [RCV002227344] Chr2:233772369 [GRCh38]
Chr2:234681015 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.1304+1G>T single nucleotide variant Gilbert syndrome [RCV002246803] Chr2:233768440 [GRCh38]
Chr2:234677086 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_000463.3(UGT1A1):c.179T>C (p.Leu60Pro) single nucleotide variant Lucey-Driscoll syndrome [RCV003233061] Chr2:233760466 [GRCh38]
Chr2:234669112 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.1173G>A (p.Met391Ile) single nucleotide variant Crigler-Najjar syndrome type 1 [RCV002290143] Chr2:233768308 [GRCh38]
Chr2:234676954 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.1208G>T (p.Arg403Leu) single nucleotide variant Crigler-Najjar syndrome type 1 [RCV002290144] Chr2:233768343 [GRCh38]
Chr2:234676989 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.725del (p.Val242fs) deletion Crigler-Najjar syndrome type 1 [RCV002262166] Chr2:233761012 [GRCh38]
Chr2:234669658 [GRCh37]
Chr2:2q37.1		 pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:233642145-237654870)x1 copy number loss not provided [RCV002472410] Chr2:233642145..237654870 [GRCh37]
Chr2:2q37.1-37.3		 uncertain significance
NM_000463.3(UGT1A1):c.1305-7T>A single nucleotide variant not provided [RCV002726545] Chr2:233772255 [GRCh38]
Chr2:234680901 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.1560A>G (p.Lys520=) single nucleotide variant not provided [RCV002993940] Chr2:233772517 [GRCh38]
Chr2:234681163 [GRCh37]
Chr2:2q37.1		 likely benign
NM_000463.3(UGT1A1):c.164dup (p.His55fs) duplication not provided [RCV003033045] Chr2:233760450..233760451 [GRCh38]
Chr2:234669096..234669097 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_001072.4(UGT1A6):c.862-6800AT[10] microsatellite not provided [RCV002617932] Chr2:233760233..233760234 [GRCh38]
Chr2:234668879..234668880 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.244C>T (p.Pro82Ser) single nucleotide variant Inborn genetic diseases [RCV002860697] Chr2:233760531 [GRCh38]
Chr2:234669177 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.149T>G (p.Leu50Arg) single nucleotide variant not provided [RCV002881101] Chr2:233760436 [GRCh38]
Chr2:234669082 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.244C>G (p.Pro82Ala) single nucleotide variant not provided [RCV002902942] Chr2:233760531 [GRCh38]
Chr2:234669177 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.1389G>C (p.Glu463Asp) single nucleotide variant not provided [RCV003078743] Chr2:233772346 [GRCh38]
Chr2:234680992 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.1007G>T (p.Arg336Leu) single nucleotide variant Inborn genetic diseases [RCV002707874] Chr2:233767859 [GRCh38]
Chr2:234676505 [GRCh37]
Chr2:2q37.1		 likely pathogenic
NM_000463.3(UGT1A1):c.1084+4T>C single nucleotide variant not provided [RCV002619885] Chr2:233767940 [GRCh38]
Chr2:234676586 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.596C>G (p.Ser199Cys) single nucleotide variant Inborn genetic diseases [RCV002707473] Chr2:233760883 [GRCh38]
Chr2:234669529 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.997G>A (p.Val333Ile) single nucleotide variant not provided [RCV002592048] Chr2:233767849 [GRCh38]
Chr2:234676495 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.111C>A (p.Gly37=) single nucleotide variant not provided [RCV003002110] Chr2:233760398 [GRCh38]
Chr2:234669044 [GRCh37]
Chr2:2q37.1		 likely benign
NM_000463.3(UGT1A1):c.1388A>T (p.Glu463Val) single nucleotide variant UGT1A1-related condition [RCV003900879]|not provided [RCV002664287] Chr2:233772345 [GRCh38]
Chr2:234680991 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.1024C>T (p.Pro342Ser) single nucleotide variant not provided [RCV003083138] Chr2:233767876 [GRCh38]
Chr2:234676522 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.673G>A (p.Val225Met) single nucleotide variant Inborn genetic diseases [RCV002696837]|not provided [RCV003140153] Chr2:233760960 [GRCh38]
Chr2:234669606 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_001072.4(UGT1A6):c.862-6792A>G single nucleotide variant UGT1A1-related condition [RCV003961062]|not provided [RCV002574794] Chr2:233760242 [GRCh38]
Chr2:234668888 [GRCh37]
Chr2:2q37.1		 benign|likely benign
NM_000463.3(UGT1A1):c.1581C>A (p.Ala527=) single nucleotide variant not provided [RCV003065690] Chr2:233772538 [GRCh38]
Chr2:234681184 [GRCh37]
Chr2:2q37.1		 likely benign
NM_000463.3(UGT1A1):c.615del (p.Phe206fs) deletion UGT1A1-related condition [RCV003900878]|not provided [RCV002651625] Chr2:233760901 [GRCh38]
Chr2:234669547 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_000463.3(UGT1A1):c.1084+12G>A single nucleotide variant not provided [RCV002583459] Chr2:233767948 [GRCh38]
Chr2:234676594 [GRCh37]
Chr2:2q37.1		 likely benign
NM_000463.3(UGT1A1):c.1112C>T (p.Thr371Ile) single nucleotide variant not provided [RCV003072789] Chr2:233768247 [GRCh38]
Chr2:234676893 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.793C>T (p.Pro265Ser) single nucleotide variant Inborn genetic diseases [RCV003212869] Chr2:233761080 [GRCh38]
Chr2:234669726 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.677T>C (p.Val226Ala) single nucleotide variant not provided [RCV003139218] Chr2:233760964 [GRCh38]
Chr2:234669610 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.695C>A (p.Thr232Asn) single nucleotide variant not provided [RCV003139219] Chr2:233760982 [GRCh38]
Chr2:234669628 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.396_401del (p.His132_Lys134delinsGln) deletion not provided [RCV003139220] Chr2:233760682..233760687 [GRCh38]
Chr2:234669328..234669333 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.355G>A (p.Asp119Asn) single nucleotide variant not provided [RCV003139221] Chr2:233760642 [GRCh38]
Chr2:234669288 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.387C>G (p.His129Gln) single nucleotide variant not provided [RCV003139222] Chr2:233760674 [GRCh38]
Chr2:234669320 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.354G>T (p.Lys118Asn) single nucleotide variant not provided [RCV003139223] Chr2:233760641 [GRCh38]
Chr2:234669287 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.164A>G (p.His55Arg) single nucleotide variant not provided [RCV003139224] Chr2:233760451 [GRCh38]
Chr2:234669097 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.706G>C (p.Glu236Gln) single nucleotide variant not provided [RCV003139225] Chr2:233760993 [GRCh38]
Chr2:234669639 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.286G>A (p.Gly96Arg) single nucleotide variant not provided [RCV003139226] Chr2:233760573 [GRCh38]
Chr2:234669219 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.300del (p.Phe100fs) deletion not provided [RCV003133071] Chr2:233760583 [GRCh38]
Chr2:234669229 [GRCh37]
Chr2:2q37.1		 likely pathogenic
NM_000463.3(UGT1A1):c.1156G>T (p.Val386Phe) single nucleotide variant Crigler-Najjar syndrome [RCV003229498] Chr2:233768291 [GRCh38]
Chr2:234676937 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_000463.3(UGT1A1):c.1184G>T (p.Gly395Val) single nucleotide variant Crigler-Najjar syndrome [RCV003229499] Chr2:233768319 [GRCh38]
Chr2:234676965 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_000463.3(UGT1A1):c.1469A>C (p.Asp490Ala) single nucleotide variant not specified [RCV003324368] Chr2:233772426 [GRCh38]
Chr2:234681072 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.395A>G (p.His132Arg) single nucleotide variant Inborn genetic diseases [RCV003357827] Chr2:233760682 [GRCh38]
Chr2:234669328 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.1458C>A (p.Tyr486Ter) single nucleotide variant not specified [RCV003331868] Chr2:233772415 [GRCh38]
Chr2:234681061 [GRCh37]
Chr2:2q37.1		 uncertain significance
GRCh37/hg19 2q36.2-37.3(chr2:225995545-237594511)x3 copy number gain not provided [RCV003484091] Chr2:225995545..237594511 [GRCh37]
Chr2:2q36.2-37.3		 pathogenic
NM_001072.4(UGT1A6):c.862-6787_862-6786insGT insertion not provided [RCV003482470] Chr2:233760246..233760247 [GRCh38]
Chr2:234668892..234668893 [GRCh37]
Chr2:2q37.1		 uncertain significance
Single allele duplication not provided [RCV003448672] Chr2:230077026..243049549 [GRCh37]
Chr2:2q36.3-37.3		 pathogenic
NM_000463.3(UGT1A1):c.254G>A (p.Arg85Lys) single nucleotide variant UGT1A1-related condition [RCV003420918] Chr2:233760541 [GRCh38]
Chr2:234669187 [GRCh37]
Chr2:2q37.1		 uncertain significance
GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3 copy number gain not provided [RCV003484087] Chr2:218376403..242783384 [GRCh37]
Chr2:2q35-37.3		 pathogenic
NM_000463.3(UGT1A1):c.516G>T (p.Leu172Phe) single nucleotide variant not provided [RCV003481688] Chr2:233760803 [GRCh38]
Chr2:234669449 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_001072.4(UGT1A6):c.862-6831_862-6829dup duplication UGT1A1-related condition [RCV003427827] Chr2:233760202..233760203 [GRCh38]
Chr2:234668848..234668849 [GRCh37]
Chr2:2q37.1		 pathogenic
NM_000463.3(UGT1A1):c.110G>A (p.Gly37Asp) single nucleotide variant Crigler-Najjar syndrome, type II [RCV003443186] Chr2:233760397 [GRCh38]
Chr2:234669043 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.1450T>C (p.Tyr484His) single nucleotide variant UGT1A1-related condition [RCV003408762] Chr2:233772407 [GRCh38]
Chr2:234681053 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.614C>T (p.Thr205Ile) single nucleotide variant UGT1A1-related condition [RCV003412217] Chr2:233760901 [GRCh38]
Chr2:234669547 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.506T>A (p.Val169Glu) single nucleotide variant UGT1A1-related condition [RCV003412363] Chr2:233760793 [GRCh38]
Chr2:234669439 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.1525T>G (p.Cys509Gly) single nucleotide variant UGT1A1-related condition [RCV003392826] Chr2:233772482 [GRCh38]
Chr2:234681128 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.1405A>C (p.Lys469Gln) single nucleotide variant UGT1A1-related condition [RCV003406105] Chr2:233772362 [GRCh38]
Chr2:234681008 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.418del (p.Leu140fs) deletion Crigler-Najjar syndrome, type II [RCV003388672] Chr2:233760703 [GRCh38]
Chr2:234669349 [GRCh37]
Chr2:2q37.1		 likely pathogenic
NM_000463.3(UGT1A1):c.1242T>A (p.Asn414Lys) single nucleotide variant not provided [RCV003691691] Chr2:233768377 [GRCh38]
Chr2:234677023 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.1319T>A (p.Ile440Asn) single nucleotide variant not provided [RCV003880478] Chr2:233772276 [GRCh38]
Chr2:234680922 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.89T>C (p.Ile30Thr) single nucleotide variant UGT1A1-related condition [RCV003954225]|not provided [RCV003491826] Chr2:233760376 [GRCh38]
Chr2:234669022 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.194C>T (p.Ser65Leu) single nucleotide variant not provided [RCV003491827] Chr2:233760481 [GRCh38]
Chr2:234669127 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.611T>C (p.Met204Thr) single nucleotide variant not provided [RCV003491828] Chr2:233760898 [GRCh38]
Chr2:234669544 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_019076.5(UGT1A8):c.1299C>T (p.Tyr433=) single nucleotide variant not provided [RCV003740549] Chr2:233772265 [GRCh38]
Chr2:234680911 [GRCh37]
Chr2:2q37.1		 likely benign
NM_019076.5(UGT1A8):c.1202T>C (p.Met401Thr) single nucleotide variant not provided [RCV003740558] Chr2:233768346 [GRCh38]
Chr2:234676992 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.687G>A (p.Pro229=) single nucleotide variant not provided [RCV003724409] Chr2:233760974 [GRCh38]
Chr2:234669620 [GRCh37]
Chr2:2q37.1		 likely benign
NM_000463.3(UGT1A1):c.1229G>A (p.Gly410Glu) single nucleotide variant not provided [RCV003726163] Chr2:233768364 [GRCh38]
Chr2:234677010 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.1491C>T (p.Ala497=) single nucleotide variant not provided [RCV003716954] Chr2:233772448 [GRCh38]
Chr2:234681094 [GRCh37]
Chr2:2q37.1		 likely benign
NM_000463.3(UGT1A1):c.977T>C (p.Leu326Ser) single nucleotide variant not provided [RCV003720537] Chr2:233767146 [GRCh38]
Chr2:234675792 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_019076.5(UGT1A8):c.1075+20T>G single nucleotide variant not provided [RCV003736494] Chr2:233767956 [GRCh38]
Chr2:234676602 [GRCh37]
Chr2:2q37.1		 likely benign
NM_019076.5(UGT1A8):c.1502T>A (p.Phe501Tyr) single nucleotide variant not provided [RCV003736465] Chr2:233772468 [GRCh38]
Chr2:234681114 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.1590C>T (p.Ser530=) single nucleotide variant UGT1A1-related condition [RCV003893339]|not provided [RCV003730078] Chr2:233772547 [GRCh38]
Chr2:234681193 [GRCh37]
Chr2:2q37.1		 likely benign
NM_000463.3(UGT1A1):c.110G>T (p.Gly37Val) single nucleotide variant not provided [RCV003555021] Chr2:233760397 [GRCh38]
Chr2:234669043 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.118T>C (p.Trp40Arg) single nucleotide variant not provided [RCV003555022] Chr2:233760405 [GRCh38]
Chr2:234669051 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.1038G>A (p.Ala346=) single nucleotide variant UGT1A1-related condition [RCV003893608] Chr2:233767890 [GRCh38]
Chr2:234676536 [GRCh37]
Chr2:2q37.1		 likely benign
NM_000463.3(UGT1A1):c.78T>C (p.His26=) single nucleotide variant UGT1A1-related condition [RCV003894517] Chr2:233760365 [GRCh38]
Chr2:234669011 [GRCh37]
Chr2:2q37.1		 likely benign
NM_019076.5(UGT1A8):c.856-6852T>C single nucleotide variant UGT1A1-related condition [RCV003910956]|not provided [RCV001675212] Chr2:233760182 [GRCh38]
Chr2:234668828 [GRCh37]
Chr2:2q37.1		 benign
NM_000463.3(UGT1A1):c.125G>A (p.Ser42Asn) single nucleotide variant UGT1A1-related condition [RCV003924215] Chr2:233760412 [GRCh38]
Chr2:234669058 [GRCh37]
Chr2:2q37.1		 uncertain significance
NM_000463.3(UGT1A1):c.864+10G>A single nucleotide variant UGT1A1-related condition [RCV003969588] Chr2:233761161 [GRCh38]
Chr2:234669807 [GRCh37]
Chr2:2q37.1		 likely benign
NM_000463.3(UGT1A1):c.1353G>A (p.Pro451=) single nucleotide variant UGT1A1-related condition [RCV003902322] Chr2:233772310 [GRCh38]
Chr2:234680956 [GRCh37]
Chr2:2q37.1		 likely benign
NM_000463.3(UGT1A1):c.1047G>A (p.Thr349=) single nucleotide variant UGT1A1-related condition [RCV003962210] Chr2:233767899 [GRCh38]
Chr2:234676545 [GRCh37]
Chr2:2q37.1		 likely benign
NM_021027.3(UGT1A9):c.918A>G (p.Ser306=) single nucleotide variant UGT1A9-related condition [RCV003896894] Chr2:233767096 [GRCh38]
Chr2:234675742 [GRCh37]
Chr2:2q37.1		 likely benign
NM_007120.3(UGT1A4):c.1425G>A (p.Leu475=) single nucleotide variant UGT1A4-related condition [RCV003924475] Chr2:233772379 [GRCh38]
Chr2:234681025 [GRCh37]
Chr2:2q37.1		 likely benign
NM_001072.4(UGT1A6):c.862-8101C>T single nucleotide variant UGT1A1-related condition [RCV003893762] Chr2:233758933 [GRCh38]
Chr2:234667579 [GRCh37]
Chr2:2q37.1		 likely benign
NM_000463.3(UGT1A1):c.21C>T (p.Gly7=) single nucleotide variant UGT1A1-related condition [RCV003969654] Chr2:233760308 [GRCh38]
Chr2:234668954 [GRCh37]
Chr2:2q37.1		 likely benign
NM_000463.3(UGT1A1):c.196T>C (p.Leu66=) single nucleotide variant UGT1A1-related condition [RCV003899182] Chr2:233760483 [GRCh38]
Chr2:234669129 [GRCh37]
Chr2:2q37.1		 likely benign
NM_000463.3(UGT1A1):c.45G>C (p.Leu15=) single nucleotide variant UGT1A1-related condition [RCV003901791] Chr2:233760332 [GRCh38]
Chr2:234668978 [GRCh37]
Chr2:2q37.1		 likely benign
NM_001072.4(UGT1A6):c.862-10037A>G single nucleotide variant UGT1A1-related condition [RCV003974278] Chr2:233756997 [GRCh38]
Chr2:234665643 [GRCh37]
Chr2:2q37.1		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1815
Count of miRNA genes:752
Interacting mature miRNAs:849
Transcripts:ENST00000305208, ENST00000360418, ENST00000608381, ENST00000608383, ENST00000609637, ENST00000609767
Prediction methods:Miranda, Rnahybrid, Targetscan
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
RH48302  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,678,218 - 234,678,302UniSTSGRCh37
Build 362234,342,957 - 234,343,041RGDNCBI36
Celera2228,398,850 - 228,398,934RGD
Cytogenetic Map2q37UniSTS
HuRef2226,478,052 - 226,478,136UniSTS
GeneMap99-GB4 RH Map2729.25UniSTS
GDB:511416  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,668,909 - 234,669,898UniSTSGRCh37
Build 362234,333,648 - 234,334,637RGDNCBI36
Celera2228,389,542 - 228,390,531RGD
Cytogenetic Map2q37UniSTS
HuRef2226,468,758 - 226,469,747UniSTS
ECD03385  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,672,917 - 234,673,713UniSTSGRCh37
Build 362234,337,656 - 234,338,452RGDNCBI36
Celera2228,393,550 - 228,394,346RGD
Cytogenetic Map2q37UniSTS
HuRef2226,472,766 - 226,473,562UniSTS
ECD03538  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,672,057 - 234,672,848UniSTSGRCh37
Build 362234,336,796 - 234,337,587RGDNCBI36
Celera2228,392,690 - 228,393,481RGD
Cytogenetic Map2q37UniSTS
HuRef2226,471,906 - 226,472,697UniSTS
ECD05537  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,676,398 - 234,677,130UniSTSGRCh37
Build 362234,341,137 - 234,341,869RGDNCBI36
Celera2228,397,031 - 228,397,763RGD
Cytogenetic Map2q37UniSTS
HuRef2226,476,233 - 226,476,965UniSTS
ECD05663  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,675,308 - 234,676,037UniSTSGRCh37
Build 362234,340,047 - 234,340,776RGDNCBI36
Celera2228,395,941 - 228,396,670RGD
Cytogenetic Map2q37UniSTS
HuRef2226,475,143 - 226,475,872UniSTS
ECD09161  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,669,794 - 234,670,429UniSTSGRCh37
Build 362234,334,533 - 234,335,168RGDNCBI36
Celera2228,390,427 - 228,391,062RGD
Cytogenetic Map2q37UniSTS
HuRef2226,469,643 - 226,470,278UniSTS
ECD09369  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,668,473 - 234,669,103UniSTSGRCh37
Build 362234,333,212 - 234,333,842RGDNCBI36
Celera2228,389,106 - 228,389,736RGD
Cytogenetic Map2q37UniSTS
HuRef2226,468,322 - 226,468,952UniSTS
ECD10107  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,669,163 - 234,669,773UniSTSGRCh37
Build 362234,333,902 - 234,334,512RGDNCBI36
Celera2228,389,796 - 228,390,406RGD
Cytogenetic Map2q37UniSTS
HuRef2226,469,012 - 226,469,622UniSTS
ECD13431  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,680,826 - 234,681,343UniSTSGRCh37
Build 362234,345,565 - 234,346,082RGDNCBI36
Celera2228,401,458 - 228,401,975RGD
Cytogenetic Map2q37UniSTS
HuRef2226,480,660 - 226,481,177UniSTS
ECD14611  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,681,398 - 234,681,887UniSTSGRCh37
Build 362234,346,137 - 234,346,626RGDNCBI36
Celera2228,402,030 - 228,402,519RGD
Cytogenetic Map2q37UniSTS
HuRef2226,481,232 - 226,481,721UniSTS
ECD18210  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,679,986 - 234,680,354UniSTSGRCh37
Build 362234,344,725 - 234,345,093RGDNCBI36
Celera2228,400,618 - 228,400,986RGD
Cytogenetic Map2q37UniSTS
HuRef2226,479,820 - 226,480,188UniSTS
ECD18237  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,678,540 - 234,678,907UniSTSGRCh37
Build 362234,343,279 - 234,343,646RGDNCBI36
Celera2228,399,172 - 228,399,539RGD
Cytogenetic Map2q37UniSTS
HuRef2226,478,374 - 226,478,741UniSTS
ECD18333  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,677,666 - 234,678,029UniSTSGRCh37
Build 362234,342,405 - 234,342,768RGDNCBI36
Celera2228,398,298 - 228,398,661RGD
Cytogenetic Map2q37UniSTS
HuRef2226,477,500 - 226,477,863UniSTS
ECD19171  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,670,933 - 234,671,264UniSTSGRCh37
Build 362234,335,672 - 234,336,003RGDNCBI36
Celera2228,391,566 - 228,391,897RGD
Cytogenetic Map2q37UniSTS
HuRef2226,470,782 - 226,471,113UniSTS
ECD23043  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,678,146 - 234,678,345UniSTSGRCh37
Build 362234,342,885 - 234,343,084RGDNCBI36
Celera2228,398,778 - 228,398,977RGD
Cytogenetic Map2q37UniSTS
HuRef2226,477,980 - 226,478,179UniSTS
ECD23517  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,668,160 - 234,668,346UniSTSGRCh37
Build 362234,332,899 - 234,333,085RGDNCBI36
Celera2228,388,793 - 228,388,979RGD
Cytogenetic Map2q37UniSTS
HuRef2226,468,009 - 226,468,195UniSTS
WI-12095  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,681,767 - 234,681,914UniSTSGRCh37
Build 362234,346,506 - 234,346,653RGDNCBI36
Celera2228,402,399 - 228,402,546RGD
Cytogenetic Map2q37UniSTS
HuRef2226,481,601 - 226,481,748UniSTS
GeneMap99-GB4 RH Map2729.25UniSTS
Whitehead-RH Map21067.3UniSTS
REN45958  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,682,113 - 234,682,362UniSTSGRCh37
Build 362234,346,852 - 234,347,101RGDNCBI36
Celera2228,402,745 - 228,402,994RGD
Cytogenetic Map2q37UniSTS
HuRef2226,481,947 - 226,482,196UniSTS
REN45959  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,681,869 - 234,682,134UniSTSGRCh37
Build 362234,346,608 - 234,346,873RGDNCBI36
Celera2228,402,501 - 228,402,766RGD
Cytogenetic Map2q37UniSTS
HuRef2226,481,703 - 226,481,968UniSTS
REN45960  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,681,667 - 234,681,893UniSTSGRCh37
Build 362234,346,406 - 234,346,632RGDNCBI36
Celera2228,402,299 - 228,402,525RGD
Cytogenetic Map2q37UniSTS
HuRef2226,481,501 - 226,481,727UniSTS
REN45961  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,681,447 - 234,681,683UniSTSGRCh37
Build 362234,346,186 - 234,346,422RGDNCBI36
Celera2228,402,079 - 228,402,315RGD
Cytogenetic Map2q37UniSTS
HuRef2226,481,281 - 226,481,517UniSTS
REN45962  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,681,203 - 234,681,440UniSTSGRCh37
Build 362234,345,942 - 234,346,179RGDNCBI36
Celera2228,401,835 - 228,402,072RGD
Cytogenetic Map2q37UniSTS
HuRef2226,481,037 - 226,481,274UniSTS
REN45963  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,680,989 - 234,681,227UniSTSGRCh37
Build 362234,345,728 - 234,345,966RGDNCBI36
Celera2228,401,621 - 228,401,859RGD
Cytogenetic Map2q37UniSTS
HuRef2226,480,823 - 226,481,061UniSTS
REN45964  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,680,783 - 234,681,011UniSTSGRCh37
Build 362234,345,522 - 234,345,750RGDNCBI36
Celera2228,401,415 - 228,401,643RGD
Cytogenetic Map2q37UniSTS
HuRef2226,480,617 - 226,480,845UniSTS
REN45965  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,680,568 - 234,680,803UniSTSGRCh37
Build 362234,345,307 - 234,345,542RGDNCBI36
Celera2228,401,200 - 228,401,435RGD
Cytogenetic Map2q37UniSTS
HuRef2226,480,402 - 226,480,637UniSTS
REN45966  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,680,096 - 234,680,354UniSTSGRCh37
Build 362234,344,835 - 234,345,093RGDNCBI36
Celera2228,400,728 - 228,400,986RGD
Cytogenetic Map2q37UniSTS
HuRef2226,479,930 - 226,480,188UniSTS
REN45967  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,679,867 - 234,680,116UniSTSGRCh37
Build 362234,344,606 - 234,344,855RGDNCBI36
Celera2228,400,499 - 228,400,748RGD
Cytogenetic Map2q37UniSTS
HuRef2226,479,701 - 226,479,950UniSTS
REN45968  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,679,651 - 234,679,881UniSTSGRCh37
Build 362234,344,390 - 234,344,620RGDNCBI36
Celera2228,400,283 - 228,400,513RGD
Cytogenetic Map2q37UniSTS
HuRef2226,479,485 - 226,479,715UniSTS
REN45969  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,679,333 - 234,679,582UniSTSGRCh37
Build 362234,344,072 - 234,344,321RGDNCBI36
Celera2228,399,965 - 228,400,214RGD
Cytogenetic Map2q37UniSTS
HuRef2226,479,167 - 226,479,416UniSTS
REN45970  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,679,088 - 234,679,349UniSTSGRCh37
Build 362234,343,827 - 234,344,088RGDNCBI36
Celera2228,399,720 - 228,399,981RGD
Cytogenetic Map2q37UniSTS
HuRef2226,478,922 - 226,479,183UniSTS
REN45971  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,678,657 - 234,678,910UniSTSGRCh37
Build 362234,343,396 - 234,343,649RGDNCBI36
Celera2228,399,289 - 228,399,542RGD
Cytogenetic Map2q37UniSTS
HuRef2226,478,491 - 226,478,744UniSTS
REN45972  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,678,425 - 234,678,667UniSTSGRCh37
Build 362234,343,164 - 234,343,406RGDNCBI36
Celera2228,399,057 - 228,399,299RGD
Cytogenetic Map2q37UniSTS
HuRef2226,478,259 - 226,478,501UniSTS
REN45973  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,678,221 - 234,678,448UniSTSGRCh37
Build 362234,342,960 - 234,343,187RGDNCBI36
Celera2228,398,853 - 228,399,080RGD
Cytogenetic Map2q37UniSTS
HuRef2226,478,055 - 226,478,282UniSTS
REN45974  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,678,019 - 234,678,243UniSTSGRCh37
Build 362234,342,758 - 234,342,982RGDNCBI36
Celera2228,398,651 - 228,398,875RGD
Cytogenetic Map2q37UniSTS
HuRef2226,477,853 - 226,478,077UniSTS
REN45975  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,677,788 - 234,678,029UniSTSGRCh37
Build 362234,342,527 - 234,342,768RGDNCBI36
Celera2228,398,420 - 228,398,661RGD
Cytogenetic Map2q37UniSTS
HuRef2226,477,622 - 226,477,863UniSTS
REN45976  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,677,515 - 234,677,780UniSTSGRCh37
Build 362234,342,254 - 234,342,519RGDNCBI36
Celera2228,398,147 - 228,398,412RGD
Cytogenetic Map2q37UniSTS
HuRef2226,477,349 - 226,477,614UniSTS
REN45977  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,676,960 - 234,677,185UniSTSGRCh37
Build 362234,341,699 - 234,341,924RGDNCBI36
Celera2228,397,593 - 228,397,818RGD
Cytogenetic Map2q37UniSTS
HuRef2226,476,795 - 226,477,020UniSTS
REN45978  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,676,757 - 234,676,982UniSTSGRCh37
Build 362234,341,496 - 234,341,721RGDNCBI36
Celera2228,397,390 - 228,397,615RGD
Cytogenetic Map2q37UniSTS
HuRef2226,476,592 - 226,476,817UniSTS
REN45979  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,676,529 - 234,676,753UniSTSGRCh37
Build 362234,341,268 - 234,341,492RGDNCBI36
Celera2228,397,162 - 228,397,386RGD
Cytogenetic Map2q37UniSTS
HuRef2226,476,364 - 226,476,588UniSTS
REN45980  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,676,288 - 234,676,514UniSTSGRCh37
Build 362234,341,027 - 234,341,253RGDNCBI36
Celera2228,396,921 - 228,397,147RGD
Cytogenetic Map2q37UniSTS
HuRef2226,476,123 - 226,476,349UniSTS
REN45981  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,676,017 - 234,676,241UniSTSGRCh37
Build 362234,340,756 - 234,340,980RGDNCBI36
Celera2228,396,650 - 228,396,874RGD
Cytogenetic Map2q37UniSTS
HuRef2226,475,852 - 226,476,076UniSTS
REN45982  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,675,795 - 234,676,034UniSTSGRCh37
Build 362234,340,534 - 234,340,773RGDNCBI36
Celera2228,396,428 - 228,396,667RGD
Cytogenetic Map2q37UniSTS
HuRef2226,475,630 - 226,475,869UniSTS
REN45983  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,675,559 - 234,675,784UniSTSGRCh37
Build 362234,340,298 - 234,340,523RGDNCBI36
Celera2228,396,192 - 228,396,417RGD
Cytogenetic Map2q37UniSTS
HuRef2226,475,394 - 226,475,619UniSTS
REN45984  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,675,344 - 234,675,578UniSTSGRCh37
Build 362234,340,083 - 234,340,317RGDNCBI36
Celera2228,395,977 - 228,396,211RGD
Cytogenetic Map2q37UniSTS
HuRef2226,475,179 - 226,475,413UniSTS
REN45985  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,675,144 - 234,675,368UniSTSGRCh37
Build 362234,339,883 - 234,340,107RGDNCBI36
Celera2228,395,777 - 228,396,001RGD
Cytogenetic Map2q37UniSTS
HuRef2226,474,979 - 226,475,203UniSTS
REN45987  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,674,648 - 234,674,884UniSTSGRCh37
Build 362234,339,387 - 234,339,623RGDNCBI36
Celera2228,395,281 - 228,395,517RGD
Cytogenetic Map2q37UniSTS
HuRef2226,474,497 - 226,474,733UniSTS
REN45988  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,674,388 - 234,674,626UniSTSGRCh37
Build 362234,339,127 - 234,339,365RGDNCBI36
Celera2228,395,021 - 228,395,259RGD
Cytogenetic Map2q37UniSTS
HuRef2226,474,237 - 226,474,475UniSTS
REN45989  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,674,186 - 234,674,410UniSTSGRCh37
Build 362234,338,925 - 234,339,149RGDNCBI36
Celera2228,394,819 - 228,395,043RGD
Cytogenetic Map2q37UniSTS
HuRef2226,474,035 - 226,474,259UniSTS
REN45990  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,673,634 - 234,673,877UniSTSGRCh37
Build 362234,338,373 - 234,338,616RGDNCBI36
Celera2228,394,267 - 228,394,510RGD
Cytogenetic Map2q37UniSTS
HuRef2226,473,483 - 226,473,726UniSTS
REN45991  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,673,371 - 234,673,627UniSTSGRCh37
Build 362234,338,110 - 234,338,366RGDNCBI36
Celera2228,394,004 - 228,394,260RGD
Cytogenetic Map2q37UniSTS
HuRef2226,473,220 - 226,473,476UniSTS
REN45992  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,673,140 - 234,673,382UniSTSGRCh37
Build 362234,337,879 - 234,338,121RGDNCBI36
Celera2228,393,773 - 228,394,015RGD
Cytogenetic Map2q37UniSTS
HuRef2226,472,989 - 226,473,231UniSTS
REN45993  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,672,938 - 234,673,162UniSTSGRCh37
Build 362234,337,677 - 234,337,901RGDNCBI36
Celera2228,393,571 - 228,393,795RGD
Cytogenetic Map2q37UniSTS
HuRef2226,472,787 - 226,473,011UniSTS
REN45994  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,672,708 - 234,672,959UniSTSGRCh37
Build 362234,337,447 - 234,337,698RGDNCBI36
Celera2228,393,341 - 228,393,592RGD
Cytogenetic Map2q37UniSTS
HuRef2226,472,557 - 226,472,808UniSTS
REN45995  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,672,479 - 234,672,725UniSTSGRCh37
Build 362234,337,218 - 234,337,464RGDNCBI36
Celera2228,393,112 - 228,393,358RGD
Cytogenetic Map2q37UniSTS
HuRef2226,472,328 - 226,472,574UniSTS
REN45996  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,672,257 - 234,672,502UniSTSGRCh37
Build 362234,336,996 - 234,337,241RGDNCBI36
Celera2228,392,890 - 228,393,135RGD
Cytogenetic Map2q37UniSTS
HuRef2226,472,106 - 226,472,351UniSTS
REN45997  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,672,004 - 234,672,271UniSTSGRCh37
Build 362234,336,743 - 234,337,010RGDNCBI36
Celera2228,392,637 - 228,392,904RGD
Cytogenetic Map2q37UniSTS
HuRef2226,471,853 - 226,472,120UniSTS
REN45998  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,671,790 - 234,672,028UniSTSGRCh37
Build 362234,336,529 - 234,336,767RGDNCBI36
Celera2228,392,423 - 228,392,661RGD
Cytogenetic Map2q37UniSTS
HuRef2226,471,639 - 226,471,877UniSTS
REN45999  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,671,587 - 234,671,812UniSTSGRCh37
Build 362234,336,326 - 234,336,551RGDNCBI36
Celera2228,392,220 - 228,392,445RGD
Cytogenetic Map2q37UniSTS
HuRef2226,471,436 - 226,471,661UniSTS
REN46000  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,671,333 - 234,671,567UniSTSGRCh37
Build 362234,336,072 - 234,336,306RGDNCBI36
Celera2228,391,966 - 228,392,200RGD
Cytogenetic Map2q37UniSTS
HuRef2226,471,182 - 226,471,416UniSTS
REN46001  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,671,077 - 234,671,346UniSTSGRCh37
Build 362234,335,816 - 234,336,085RGDNCBI36
Celera2228,391,710 - 228,391,979RGD
Cytogenetic Map2q37UniSTS
HuRef2226,470,926 - 226,471,195UniSTS
REN46002  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,670,784 - 234,671,016UniSTSGRCh37
Build 362234,335,523 - 234,335,755RGDNCBI36
Celera2228,391,417 - 228,391,649RGD
Cytogenetic Map2q37UniSTS
HuRef2226,470,633 - 226,470,865UniSTS
REN46003  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,670,539 - 234,670,801UniSTSGRCh37
Build 362234,335,278 - 234,335,540RGDNCBI36
Celera2228,391,172 - 228,391,434RGD
Cytogenetic Map2q37UniSTS
HuRef2226,470,388 - 226,470,650UniSTS
REN46004  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,670,317 - 234,670,561UniSTSGRCh37
Build 362234,335,056 - 234,335,300RGDNCBI36
Celera2228,390,950 - 228,391,194RGD
Cytogenetic Map2q37UniSTS
HuRef2226,470,166 - 226,470,410UniSTS
REN46005  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,670,103 - 234,670,341UniSTSGRCh37
Build 362234,334,842 - 234,335,080RGDNCBI36
Celera2228,390,736 - 228,390,974RGD
Cytogenetic Map2q37UniSTS
HuRef2226,469,952 - 226,470,190UniSTS
REN46006  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,669,871 - 234,670,095UniSTSGRCh37
Build 362234,334,610 - 234,334,834RGDNCBI36
Celera2228,390,504 - 228,390,728RGD
Cytogenetic Map2q37UniSTS
HuRef2226,469,720 - 226,469,944UniSTS
REN46007  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,669,634 - 234,669,871UniSTSGRCh37
Build 362234,334,373 - 234,334,610RGDNCBI36
Celera2228,390,267 - 228,390,504RGD
Cytogenetic Map2q37UniSTS
HuRef2226,469,483 - 226,469,720UniSTS
REN46008  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,669,381 - 234,669,628UniSTSGRCh37
Build 362234,334,120 - 234,334,367RGDNCBI36
Celera2228,390,014 - 228,390,261RGD
Cytogenetic Map2q37UniSTS
HuRef2226,469,230 - 226,469,477UniSTS
REN46009  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,669,134 - 234,669,386UniSTSGRCh37
Build 362234,333,873 - 234,334,125RGDNCBI36
Celera2228,389,767 - 228,390,019RGD
Cytogenetic Map2q37UniSTS
HuRef2226,468,983 - 226,469,235UniSTS
REN46010  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,668,909 - 234,669,157UniSTSGRCh37
Build 362234,333,648 - 234,333,896RGDNCBI36
Celera2228,389,542 - 228,389,790RGD
Cytogenetic Map2q37UniSTS
HuRef2226,468,758 - 226,469,006UniSTS
REN46011  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,668,666 - 234,668,916UniSTSGRCh37
Build 362234,333,405 - 234,333,655RGDNCBI36
Celera2228,389,299 - 228,389,549RGD
Cytogenetic Map2q37UniSTS
HuRef2226,468,515 - 226,468,765UniSTS
REN46012  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,668,438 - 234,668,690UniSTSGRCh37
Build 362234,333,177 - 234,333,429RGDNCBI36
Celera2228,389,071 - 228,389,323RGD
Cytogenetic Map2q37UniSTS
HuRef2226,468,287 - 226,468,539UniSTS
REN46013  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,668,209 - 234,668,454UniSTSGRCh37
Build 362234,332,948 - 234,333,193RGDNCBI36
Celera2228,388,842 - 228,389,087RGD
Cytogenetic Map2q37UniSTS
HuRef2226,468,058 - 226,468,303UniSTS
REN46014  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,667,959 - 234,668,227UniSTSGRCh37
Build 362234,332,698 - 234,332,966RGDNCBI36
Celera2228,388,592 - 228,388,860RGD
Cytogenetic Map2q37UniSTS
HuRef2226,467,808 - 226,468,076UniSTS
REN46015  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,667,751 - 234,667,982UniSTSGRCh37
Build 362234,332,490 - 234,332,721RGDNCBI36
Celera2228,388,384 - 228,388,615RGD
Cytogenetic Map2q37UniSTS
HuRef2226,467,600 - 226,467,831UniSTS
REN46016  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,667,482 - 234,667,733UniSTSGRCh37
Build 362234,332,221 - 234,332,472RGDNCBI36
Celera2228,388,115 - 228,388,366RGD
Cytogenetic Map2q37UniSTS
HuRef2226,467,331 - 226,467,582UniSTS
REN46017  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,667,259 - 234,667,503UniSTSGRCh37
Build 362234,331,998 - 234,332,242RGDNCBI36
Celera2228,387,892 - 228,388,136RGD
Cytogenetic Map2q37UniSTS
HuRef2226,467,108 - 226,467,352UniSTS
REN46018  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,667,017 - 234,667,260UniSTSGRCh37
Build 362234,331,756 - 234,331,999RGDNCBI36
Celera2228,387,650 - 228,387,893RGD
Cytogenetic Map2q37UniSTS
HuRef2226,466,866 - 226,467,109UniSTS
UGT1A1_286.2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,681,263 - 234,682,056UniSTSGRCh37
Build 362234,346,002 - 234,346,795RGDNCBI36
Celera2228,401,895 - 228,402,688RGD
HuRef2226,481,097 - 226,481,890UniSTS
UGT1A10_9802  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,681,300 - 234,682,056UniSTSGRCh37
Build 362234,346,039 - 234,346,795RGDNCBI36
Celera2228,401,932 - 228,402,688RGD
HuRef2226,481,134 - 226,481,890UniSTS
D2S2843  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,681,656 - 234,681,876UniSTSGRCh37
Build 362234,346,395 - 234,346,615RGDNCBI36
Celera2228,402,288 - 228,402,508RGD
Cytogenetic Map2q37UniSTS
HuRef2226,481,490 - 226,481,710UniSTS
RH68970  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,681,394 - 234,681,611UniSTSGRCh37
Build 362234,346,133 - 234,346,350RGDNCBI36
Celera2228,402,026 - 228,402,243RGD
Cytogenetic Map2q37UniSTS
HuRef2226,481,228 - 226,481,445UniSTS
GeneMap99-GB4 RH Map2722.3UniSTS
stSG620136  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,669,571 - 234,670,642UniSTSGRCh37
Build 362234,334,310 - 234,335,381RGDNCBI36
Celera2228,390,204 - 228,391,275RGD
HuRef2226,469,420 - 226,470,491UniSTS
stSG620137  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,670,623 - 234,672,076UniSTSGRCh37
Build 362234,335,362 - 234,336,815RGDNCBI36
Celera2228,391,256 - 228,392,709RGD
HuRef2226,470,472 - 226,471,925UniSTS
stSG620138  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,672,057 - 234,673,237UniSTSGRCh37
Build 362234,336,796 - 234,337,976RGDNCBI36
Celera2228,392,690 - 228,393,870RGD
HuRef2226,471,906 - 226,473,086UniSTS
stSG620140  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,674,396 - 234,675,407UniSTSGRCh37
Build 362234,339,135 - 234,340,146RGDNCBI36
Celera2228,395,029 - 228,396,040RGD
HuRef2226,474,245 - 226,475,242UniSTS
stSG620141  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,675,390 - 234,676,573UniSTSGRCh37
Build 362234,340,129 - 234,341,312RGDNCBI36
Celera2228,396,023 - 228,397,206RGD
HuRef2226,475,225 - 226,476,408UniSTS
stSG620142  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,676,554 - 234,678,005UniSTSGRCh37
Build 362234,341,293 - 234,342,744RGDNCBI36
Celera2228,397,187 - 228,398,637RGD
HuRef2226,476,389 - 226,477,839UniSTS
stSG620143  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,677,907 - 234,678,907UniSTSGRCh37
Build 362234,342,646 - 234,343,646RGDNCBI36
Celera2228,398,539 - 228,399,539RGD
HuRef2226,477,741 - 226,478,741UniSTS
stSG620144  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,678,893 - 234,680,210UniSTSGRCh37
Build 362234,343,632 - 234,344,949RGDNCBI36
Celera2228,399,525 - 228,400,842RGD
Cytogenetic Map2q37UniSTS
HuRef2226,478,727 - 226,480,044UniSTS
stSG620145  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,680,194 - 234,680,428UniSTSGRCh37
Build 362234,344,933 - 234,345,167RGDNCBI36
Celera2228,400,826 - 228,401,060RGD
HuRef2226,480,028 - 226,480,262UniSTS
stSG620146  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,680,446 - 234,681,447UniSTSGRCh37
Build 362234,345,185 - 234,346,186RGDNCBI36
Celera2228,401,078 - 228,402,079RGD
HuRef2226,480,280 - 226,481,281UniSTS
AFMa057vb1  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2q37UniSTS
Whitehead-RH Map2017.4UniSTS
Whitehead-YAC Contig Map20 UniSTS
NCBI RH Map2010.0UniSTS


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 adipose tissue appendage
High
Medium 56 201 202 33 201 1 18 4 10 1 1
Low 639 12 274 253 102 211 1029 5 3 228 274 167 46 5 556
Below cutoff 559 540 550 132 326 25 784 341 504 93 590 675 114 312 443

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_002601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NG_033238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB779752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB779753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB779754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB779755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB779756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC006985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF110194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF180372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF297093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF352795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF357220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY435136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY603772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC128414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC128415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D87674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ364247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ374395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ222555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ686667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ699637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ699638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ699639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ699640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ699641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ699642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ699643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ699644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ699645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ699646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ699647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ699649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ699650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT327867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC005519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M57899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M84125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH385320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH385321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH385322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW476704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW476705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000305208   ⟹   ENSP00000304845
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2233,760,270 - 233,773,300 (+)Ensembl
RefSeq Acc Id: ENST00000360418   ⟹   ENSP00000353593
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2233,760,288 - 233,771,615 (+)Ensembl
RefSeq Acc Id: NM_000463   ⟹   NP_000454
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382233,760,270 - 233,773,300 (+)NCBI
GRCh372234,668,919 - 234,681,945 (+)ENTREZGENE
Build 362234,333,658 - 234,346,684 (+)NCBI Archive
HuRef2226,468,768 - 226,481,779 (+)ENTREZGENE
CHM1_12234,674,733 - 234,687,806 (+)NCBI
T2T-CHM13v2.02234,248,901 - 234,261,929 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000454 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA61248 (Get FASTA)   NCBI Sequence Viewer  
  AAA63195 (Get FASTA)   NCBI Sequence Viewer  
  AAF01205 (Get FASTA)   NCBI Sequence Viewer  
  AAG30424 (Get FASTA)   NCBI Sequence Viewer  
  AAG43197 (Get FASTA)   NCBI Sequence Viewer  
  AAI28415 (Get FASTA)   NCBI Sequence Viewer  
  AAI28416 (Get FASTA)   NCBI Sequence Viewer  
  AAK27223 (Get FASTA)   NCBI Sequence Viewer  
  AAK31204 (Get FASTA)   NCBI Sequence Viewer  
  AAR95637 (Get FASTA)   NCBI Sequence Viewer  
  AAS99732 (Get FASTA)   NCBI Sequence Viewer  
  ABC88474 (Get FASTA)   NCBI Sequence Viewer  
  ABC96771 (Get FASTA)   NCBI Sequence Viewer  
  ACI45243 (Get FASTA)   NCBI Sequence Viewer  
  AFH35129 (Get FASTA)   NCBI Sequence Viewer  
  AFN10613 (Get FASTA)   NCBI Sequence Viewer  
  AFN10614 (Get FASTA)   NCBI Sequence Viewer  
  AFN10615 (Get FASTA)   NCBI Sequence Viewer  
  AFN10616 (Get FASTA)   NCBI Sequence Viewer  
  AFN10617 (Get FASTA)   NCBI Sequence Viewer  
  AFN10618 (Get FASTA)   NCBI Sequence Viewer  
  AFN10619 (Get FASTA)   NCBI Sequence Viewer  
  AFN10620 (Get FASTA)   NCBI Sequence Viewer  
  AFN10621 (Get FASTA)   NCBI Sequence Viewer  
  AFN10622 (Get FASTA)   NCBI Sequence Viewer  
  AFN10623 (Get FASTA)   NCBI Sequence Viewer  
  AFN10624 (Get FASTA)   NCBI Sequence Viewer  
  AFN10625 (Get FASTA)   NCBI Sequence Viewer  
  ANZ22923 (Get FASTA)   NCBI Sequence Viewer  
  AXS67833 (Get FASTA)   NCBI Sequence Viewer  
  AXS67834 (Get FASTA)   NCBI Sequence Viewer  
  AXS67835 (Get FASTA)   NCBI Sequence Viewer  
  BAA25600 (Get FASTA)   NCBI Sequence Viewer  
  BAF83523 (Get FASTA)   NCBI Sequence Viewer  
  BAO48177 (Get FASTA)   NCBI Sequence Viewer  
  BAO48178 (Get FASTA)   NCBI Sequence Viewer  
  BAO48179 (Get FASTA)   NCBI Sequence Viewer  
  BAO48180 (Get FASTA)   NCBI Sequence Viewer  
  BAO48181 (Get FASTA)   NCBI Sequence Viewer  
  BAS31009 (Get FASTA)   NCBI Sequence Viewer  
  EAW71053 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000304845
  ENSP00000304845.5
  ENSP00000353593.3
GenBank Protein P22309 (Get FASTA)   NCBI Sequence Viewer  
  UQZ09614 (Get FASTA)   NCBI Sequence Viewer  
  UQZ09615 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_000454   ⟸   NM_000463
- Peptide Label: precursor
- UniProtKB: A6NJC3 (UniProtKB/Swiss-Prot),   B8K286 (UniProtKB/Swiss-Prot),   P22309 (UniProtKB/Swiss-Prot),   Q5DT03 (UniProtKB/TrEMBL),   I6U9T8 (UniProtKB/TrEMBL),   I6UJG0 (UniProtKB/TrEMBL),   I6VBT8 (UniProtKB/TrEMBL),   I6VBU3 (UniProtKB/TrEMBL),   I6VE22 (UniProtKB/TrEMBL),   I6VE27 (UniProtKB/TrEMBL),   I6VE32 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000353593   ⟸   ENST00000360418
RefSeq Acc Id: ENSP00000304845   ⟸   ENST00000305208

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P22309-F1-model_v2 AlphaFold P22309 1-533 view protein structure

Promoters
RGD ID:6863168
Promoter ID:EPDNEW_H4749
Type:multiple initiation site
Name:UGT1A1_2
Description:UDP glucuronosyltransferase family 1 member A1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4737  EPDNEW_H4740  EPDNEW_H4741  EPDNEW_H4748  EPDNEW_H4750  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382233,760,270 - 233,760,330EPDNEW
RGD ID:6863170
Promoter ID:EPDNEW_H4750
Type:multiple initiation site
Name:UGT1A1_3
Description:UDP glucuronosyltransferase family 1 member A1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4737  EPDNEW_H4740  EPDNEW_H4741  EPDNEW_H4748  EPDNEW_H4749  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382233,768,414 - 233,768,474EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12530 AgrOrtholog
COSMIC UGT1A1 COSMIC
Ensembl Genes ENSG00000241635 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000305208 ENTREZGENE
  ENST00000305208.10 UniProtKB/Swiss-Prot
  ENST00000360418.4 UniProtKB/Swiss-Prot
Gene3D-CATH Glycogen Phosphorylase B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000241635 GTEx
HGNC ID HGNC:12530 ENTREZGENE
Human Proteome Map UGT1A1 Human Proteome Map
InterPro UDP_glucos_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UDP_glycos_trans_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:54658 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 54658 ENTREZGENE
OMIM 191740 OMIM
PANTHER EG:EG0003.4 PROTEIN-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  STEROL 3-BETA-GLUCOSYLTRANSFERASE UniProtKB/TrEMBL
  UD11 GLUCURONOSYLTRANSFERASE UniProtKB/TrEMBL
  UDP GLUCURONOSYLTRANSFERASE 1 FAMILY POLYPEPTIDE A3 PRECURSOR-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UDP-GLUCURONOSYLTRANSFERASE UniProtKB/TrEMBL
Pfam UDPGT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA420 PharmGKB, RGD
PROSITE UDPGT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP UDP-Glycosyltransferase/glycogen phosphorylase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0M4UT75_HUMAN UniProtKB/TrEMBL
  A0A1L2FNL9_HUMAN UniProtKB/TrEMBL
  A0A346RP36_HUMAN UniProtKB/TrEMBL
  A0A346RP37_HUMAN UniProtKB/TrEMBL
  A0A346RP38_HUMAN UniProtKB/TrEMBL
  A6NJC3 ENTREZGENE
  B6EBF5_HUMAN UniProtKB/TrEMBL
  B8K286 ENTREZGENE
  I6U9T8 ENTREZGENE, UniProtKB/TrEMBL
  I6UJG0 ENTREZGENE, UniProtKB/TrEMBL
  I6VBT8 ENTREZGENE, UniProtKB/TrEMBL
  I6VBU3 ENTREZGENE, UniProtKB/TrEMBL
  I6VE22 ENTREZGENE, UniProtKB/TrEMBL
  I6VE27 ENTREZGENE, UniProtKB/TrEMBL
  I6VE32 ENTREZGENE, UniProtKB/TrEMBL
  P22309 ENTREZGENE
  Q5DT03 ENTREZGENE, UniProtKB/TrEMBL
  Q9BX76_HUMAN UniProtKB/TrEMBL
  Q9H3F9_HUMAN UniProtKB/TrEMBL
  UD11_HUMAN UniProtKB/Swiss-Prot
  W6JGU4_HUMAN UniProtKB/TrEMBL
  W6JGU6_HUMAN UniProtKB/TrEMBL
  W6JGV5_HUMAN UniProtKB/TrEMBL
  W6JGV8_HUMAN UniProtKB/TrEMBL
  W6JHY2_HUMAN UniProtKB/TrEMBL
  W6JIA6_HUMAN UniProtKB/TrEMBL
  W6JIB0_HUMAN UniProtKB/TrEMBL
  W6JNV6_HUMAN UniProtKB/TrEMBL
UniProt Secondary A6NJC3 UniProtKB/Swiss-Prot
  B8K286 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-07 UGT1A1  UDP glucuronosyltransferase family 1 member A1  UGT1A1  UDP glucuronosyltransferase 1 family, polypeptide A1  Symbol and/or name change 5135510 APPROVED