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
RS1565961210 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1565961371 Health Risk Conflicting classifications of pathogenicity —
RS1565971720 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1565973352 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, POLE-related disorder, Hereditary cancer-predisposing syndrome
RS1565975090 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1565978171 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1565980363 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gastric cancer, Hereditary cancer-predisposing syndrome
RS1565981775 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1565986506 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 12
RS1565986587 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Intrauterine growth retardation, metaphyseal dysplasia
RS1566306858 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1566307090 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1566308356 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1566308645 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, POLE-related disorder, Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
RS1593073279 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593077422 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Polymerase proofreading-related adenomatous polyposis, Hereditary cancer-predisposing syndrome
RS1593078223 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593079711 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, POLE-related disorder, Colorectal cancer
RS1593080925 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593082154 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593082215 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593086031 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593086474 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593087229 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593088347 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Intrauterine growth retardation, metaphyseal dysplasia
RS1593088395 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593099111 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593696233 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Facial dysmorphism-immunodeficiency-livedo-short stature syndrome, Colorectal cancer
RS1593696238 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593708047 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593719605 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593721930 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593722018 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593727501 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593727638 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593729195 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593729546 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593730641 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593730668 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593733806 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593735965 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593736291 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593748950 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593749688 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593775696 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593775821 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593775859 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593777633 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial colorectal cancer type X, Hereditary cancer-predisposing syndrome
RS1593782203 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593782262 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
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