POLE Chromosome 12

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

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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
RS867677414 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Intrauterine growth retardation, metaphyseal dysplasia
RS868832791 Health Risk Conflicting classifications of pathogenicity Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita
RS869312803 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
RS878854838 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS878854846 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, POLE-related polyposis and colorectal cancer syndrome, Hereditary cancer-predisposing syndrome
RS878854847 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 12
RS878854849 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS878854851 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 12
RS878854854 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, POLE-related disorder, Hereditary cancer-predisposing syndrome
RS878854865 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS878854866 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS878854867 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS878854874 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS878854876 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, POLE-related disorder, Hereditary cancer-predisposing syndrome
RS878854883 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS878854885 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
RS878854895 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS879254126 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
RS879254168 Health Risk Conflicting classifications of pathogenicity POLE-related disorder, Colorectal cancer, susceptibility to
RS879254173 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Melanoma, Hereditary cancer-predisposing syndrome
RS879254232 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome, POLE-related disorder
RS879254239 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS879254247 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS879255392 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS888631588 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS899872545 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS904849438 Health Risk Conflicting classifications of pathogenicity Hereditary cancer, Hereditary cancer
RS908638591 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS913720556 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS921653059 Health Risk Conflicting classifications of pathogenicity Polymerase proofreading-related adenomatous polyposis, Hereditary cancer-predisposing syndrome, Polymerase proofreading-related adenomatous polyposis
RS929537284 Health Risk Conflicting classifications of pathogenicity POLE-related disorder, Intrauterine growth retardation, metaphyseal dysplasia
RS930378312 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS931491187 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS932588382 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS946547049 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS949436167 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS959133191 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS962068207 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Intrauterine growth retardation, metaphyseal dysplasia
RS969812647 Health Risk Conflicting classifications of pathogenicity POLE-related disorder, Intrauterine growth retardation, metaphyseal dysplasia
RS985504177 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer, POLE-related disorder
RS986217332 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, POLE-related disorder, Hereditary cancer-predisposing syndrome
RS988444921 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS991583405 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS993340577 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Intrauterine growth retardation, metaphyseal dysplasia
RS995579204 Health Risk Conflicting classifications of pathogenicity Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita
RS997586826 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS999490184 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1057517634 Health Risk Likely pathogenic Colorectal cancer, susceptibility to, 12
RS1057519256 Health Risk Likely pathogenic Colorectal cancer, susceptibility to, 12
RS1060500806 Health Risk Likely pathogenic Colorectal cancer, susceptibility to, 12
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