POLE Chromosome 12

DNA polymerase epsilon, catalytic subunit
1210 variants 1 Drug Response 1209 Health Risk

Upload your DNA to see your personal genotypes for variants in POLE.

What This Gene Does
This gene encodes the catalytic subunit of DNA polymerase epsilon. The enzyme is involved in DNA repair and chromosomal DNA replication. Mutations in this gene have been associated with colorectal cancer 12 and facial dysmorphism, immunodeficiency, livedo, and short stature. [provided by RefSeq, Sep 2013]
Gene Info
Gene Group
DNA polymerases
Locus Type
gene with protein product
Location
12q24.33
Ensembl
ENSG00000177084
Associated Conditions (47)
Programmed death ligand-1 (PD-L1) blocking antibody response
Hereditary cancer-predisposing syndrome
Colorectal cancer
susceptibility to
12
Polymerase proofreading-related adenomatous polyposis
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
Intrauterine growth retardation
metaphyseal dysplasia
adrenal hypoplasia congenita
genital anomalies
and immunodeficiency
POLE-related disorder
Neoplasm
Endometrioid adenocarcinoma
Familial colorectal cancer type X
10
Familial colorectal cancer
Hereditary cancer
Carcinoma of colon
+27 more conditions
Key Variants
RS1555229108
drug response
Programmed death ligand-1 (PD-L1) blocking antibody response, Programmed death ligand-1 (PD-L1) blocking antibody response
Drug Response
RS1000912264
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
Health Risk
RS1003504532
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1004972253
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Polymerase proofreading-related adenomatous polyposis, Hereditary cancer-predisposing syndrome
Health Risk
RS1010746038
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1011427549
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1012418859
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1014146082
Conflicting classifications of pathogenicity
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome, Colorectal cancer, susceptibility to
Health Risk
RS1018143132
Conflicting classifications of pathogenicity
Colorectal cancer, susceptibility to, 12
Health Risk
RS1028428160
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Intrauterine growth retardation, metaphyseal dysplasia
Health Risk
RS1032311596
Conflicting classifications of pathogenicity
Colorectal cancer, susceptibility to, 12
Health Risk
RS1036643774
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
All Variants (1210)
RSID Category Clinical Significance Conditions
RS749012938 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS749117997 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Intrauterine growth retardation, metaphyseal dysplasia
RS749305408 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, Hereditary cancer-predisposing syndrome, Colorectal cancer
RS749543313 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS749595462 Health Risk Conflicting classifications of pathogenicity —
RS749631362 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Facial dysmorphism-immunodeficiency-livedo-short stature syndrome, Hereditary cancer-predisposing syndrome
RS749707316 Health Risk Conflicting classifications of pathogenicity Polymerase proofreading-related adenomatous polyposis, Hereditary cancer-predisposing syndrome, Polymerase proofreading-related adenomatous polyposis
RS749992643 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 12
RS750101293 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
RS750255126 Health Risk Conflicting classifications of pathogenicity —
RS750268044 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 12
RS750460626 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS750902578 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
RS751217859 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS751465593 Health Risk Conflicting classifications of pathogenicity Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita
RS751662353 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS752113614 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS752118019 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS752148857 Health Risk Conflicting classifications of pathogenicity —
RS752558475 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS752586205 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS752606831 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS752751096 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS752955761 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS753105796 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS753360358 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS753417741 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS753440288 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS753660907 Health Risk Conflicting classifications of pathogenicity Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita
RS753680242 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS754001064 Health Risk Conflicting classifications of pathogenicity —
RS754220952 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS754311081 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS754411056 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS754518522 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 12
RS754559038 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 12
RS754630848 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS754982151 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 12
RS755346486 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS755463796 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS755483803 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS755627156 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, POLE-related disorder, Colorectal cancer
RS755805420 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS756246229 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Facial dysmorphism-immunodeficiency-livedo-short stature syndrome, Colorectal cancer
RS756301031 Health Risk Conflicting classifications of pathogenicity Facial dysmorphism-immunodeficiency-livedo-short stature syndrome, Hereditary cancer-predisposing syndrome, Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
RS757060708 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS757377081 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
RS757413516 Health Risk Conflicting classifications of pathogenicity Inherited polyposis and early onset colorectal cancer - germline testing, Colorectal cancer, susceptibility to
RS757453683 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Intrauterine growth retardation, metaphyseal dysplasia
RS757478410 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
« Prev 1 ... 10 11 12 13 14 15 16 ... 25 Next »
Sign Up to Analyze Your DNA Log In