POLE — 10040 ClinVar variants

All ClinVar germline POLE variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 5101 flagged for review →

310 Pathogenic · 3 Pathogenic/Likely pathogenic · 121 Likely pathogenic · 877 Conflicting · 128 Benign · 195 Benign/Likely benign · 3186 Likely benign · 5220 Uncertain significance

Full POLE gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 5101

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

POLE p.Glu1956Val Likely pathogenic Single submitter
facial dysmorphism-immunodeficiency-livedo-short stature syndrome
POLE p.Leu1186Phe Pathogenic Single submitter

Predictors agree, ClinVar conflicts 343

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification. · showing the 150 best-reviewed of 343

POLE p.Ala1126Ser Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Ala1140Thr Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Ala11Gly Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Ala1200Thr Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Ala1209Thr Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Ala1224Val Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Ala1260Pro Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Ala1260Thr Conflicting Single submitter
colorectal cancer, susceptibility to, 12
POLE p.Ala1342Thr Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Ala1375Val Conflicting Single submitter
familial colorectal cancer type X
POLE p.Ala1379Pro Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Ala1379Val Conflicting Single submitter
facial dysmorphism-immunodeficiency-livedo-short stature syndrome
POLE p.Ala1416Thr Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Ala1464Pro Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Ala1493Ser Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Ala1528Thr Conflicting Single submitter
intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency
POLE p.Ala1574Thr Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Ala1614Val Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Ala1690Val Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Ala1751Thr Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Ala1776Ser Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Ala1778Thr Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Ala1778Val Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Ala183Thr Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Ala1854Thr Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Ala186Thr Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Ala186Val Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Ala1946Thr Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Ala1967Val Conflicting Single submitter
POLE-related disorder
POLE p.Ala2040Val Conflicting Single submitter
facial dysmorphism-immunodeficiency-livedo-short stature syndrome
POLE p.Ala2056Thr Conflicting Single submitter
intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency
POLE p.Ala2180Thr Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Ala2180Val Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Ala2192Val Conflicting Single submitter
facial dysmorphism-immunodeficiency-livedo-short stature syndrome
POLE p.Ala2198Asp Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Ala2243Thr Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Ala25Thr Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Ala341Ser Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Ala374Thr Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Ala428Thr Conflicting Single submitter
colorectal cancer, susceptibility to, 10
POLE p.Ala512Thr Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Ala668Thr Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Ala895Thr Conflicting Single submitter
Hereditary cancer
POLE p.Ala914Thr Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Ala992Thr Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Arg109Lys Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Arg1233Gln Conflicting Single submitter
colorectal cancer, susceptibility to, 12
POLE p.Arg1273Leu Conflicting Single submitter
POLE-related disorder
POLE p.Arg1284Gln Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Arg1286His Conflicting Single submitter
facial dysmorphism-immunodeficiency-livedo-short stature syndrome
POLE p.Arg1303Ser Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Arg1324His Conflicting Single submitter
colorectal cancer, susceptibility to, 12
POLE p.Arg1359Ser Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Arg1390His Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Arg1508His Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Arg154Lys Conflicting Single submitter
facial dysmorphism-immunodeficiency-livedo-short stature syndrome
POLE p.Arg1631His Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Arg1634His Conflicting Single submitter
colorectal cancer, susceptibility to, 12
POLE p.Arg1679His Conflicting Single submitter
colorectal cancer, susceptibility to, 12
POLE p.Arg1879His Conflicting Single submitter
intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency
POLE p.Arg1932His Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Arg1932Leu Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Arg2017His Conflicting Single submitter
Polymerase proofreading-related adenomatous polyposis
POLE p.Arg2026Lys Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Arg2145Gln Conflicting Single submitter
facial dysmorphism-immunodeficiency-livedo-short stature syndrome
POLE p.Arg2149Cys Conflicting Single submitter
Polymerase proofreading-related adenomatous polyposis
POLE p.Arg2149His Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Arg2149Leu Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Arg2159His Conflicting Single submitter
Polymerase proofreading-related adenomatous polyposis
POLE p.Arg2225Gly Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Arg2225His Conflicting Single submitter
Hereditary cancer
POLE p.Arg222Cys Conflicting Single submitter
familial colorectal cancer type X
POLE p.Arg2259Gln Conflicting Single submitter
colorectal cancer, susceptibility to, 12
POLE p.Arg231Cys Conflicting Single submitter
Polymerase proofreading-related adenomatous polyposis
POLE p.Arg47Gln Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Arg4Gly Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Arg847Gln Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Arg924His Conflicting Single submitter
facial dysmorphism-immunodeficiency-livedo-short stature syndrome
POLE p.Asn1175Ser Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Asn1448Ser Conflicting Single submitter
facial dysmorphism-immunodeficiency-livedo-short stature syndrome
POLE p.Asn151Ser Conflicting Single submitter
facial dysmorphism-immunodeficiency-livedo-short stature syndrome
POLE p.Asn1521Ser Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Asn1618Ser Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Asn1638Ser Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Asn1717Ser Conflicting Single submitter
colorectal cancer, susceptibility to, 12
POLE p.Asn1746Ser Conflicting Single submitter
facial dysmorphism-immunodeficiency-livedo-short stature syndrome
POLE p.Asn1843Asp Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Asn1843Ser Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Asn1869Ser Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Asn1952Asp Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Asn1971Ser Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Asn2057Lys Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Asn245Ser Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Asn251Ser Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Asn251Tyr Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Asn525Ser Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Asn841Ser Conflicting Single submitter
colorectal cancer, susceptibility to, 12
POLE p.Asn882Ser Conflicting Single submitter
Polymerase proofreading-related adenomatous polyposis
POLE p.Asn907Ser Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Asp1011Asn Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Asp1066Asn Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Asp1165Asn Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Asp1203Glu Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Asp1203Gly Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Asp12Asn Conflicting Single submitter
Polymerase proofreading-related adenomatous polyposis
POLE p.Asp1309Asn Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Asp1309Gly Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Asp1405Asn Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Asp1747Asn Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Asp1752Asn Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Asp1759Asn Conflicting Single submitter
facial dysmorphism-immunodeficiency-livedo-short stature syndrome
POLE p.Asp185Asn Conflicting Single submitter
Polymerase proofreading-related adenomatous polyposis
POLE p.Asp1948Gly Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Asp1948Val Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Asp1954Gly Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Asp203Asn Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Asp213Glu Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Asp225Asn Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Asp301Asn Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Asp316Glu Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Asp319Asn Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Asp339Asn Conflicting Single submitter
Hereditary cancer
POLE p.Asp368Asn Conflicting Single submitter
Polymerase proofreading-related adenomatous polyposis
POLE p.Asp490Asn Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Asp535Asn Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Asp787Asn Conflicting Single submitter
colorectal cancer, susceptibility to, 12
POLE p.Cys1612Arg Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Gln1239Arg Conflicting Single submitter
colorectal cancer, susceptibility to, 12
POLE p.Gln1711Lys Conflicting Single submitter
colorectal cancer, susceptibility to, 12
POLE p.Gln196Arg Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Gln196Pro Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Gln2283Glu Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Gln592Lys Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Glu1185Asp Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Glu1199Asp Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Glu1199Lys Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Glu1202Gly Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Glu1413Lys Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Glu1417Gln Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Glu1417Lys Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Glu1466Gln Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Glu1707Asp Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Glu1888Lys Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Glu1969Asp Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Glu204Lys Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Glu2082Gly Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Glu2082Lys Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Glu51Gln Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Glu597Lys Conflicting Single submitter
hereditary neoplastic syndrome
POLE p.Glu701Asp Conflicting Single submitter
hereditary neoplastic syndrome

Predictors lean, ClinVar uncertain 3007

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 3007

POLE p.Ala1007Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala1007Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala1021Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala1072Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala107Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala107Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala1093Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala1093Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala1097Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala1097Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala1126Thr Uncertain significance Multiple submitters
POLE p.Ala1149Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala1149Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala1149Val Uncertain significance Multiple submitters
facial dysmorphism-immunodeficiency-livedo-short stature syndrome
POLE p.Ala11Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala1209Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala1225Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala1225Val Uncertain significance Multiple submitters
POLE p.Ala1283Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala1283Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala1288Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala1298Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala1306Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala1312Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala1323Val Uncertain significance Multiple submitters
intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency
POLE p.Ala1349Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala1375Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala1493Thr Uncertain significance Multiple submitters
colorectal cancer, susceptibility to, 12
POLE p.Ala1495Val Uncertain significance Multiple submitters
POLE p.Ala1528Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala1532Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala1532Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala1567Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala1586Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala1586Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala1586Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala1597Thr Uncertain significance Multiple submitters
facial dysmorphism-immunodeficiency-livedo-short stature syndrome
POLE p.Ala1614Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala1629Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala1646Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala1674Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala1674Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala1690Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala1690Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala1699Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala1699Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala1735Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala1751Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala1764Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala1764Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala1776Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala1776Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala1780Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala1786Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala1836Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala1854Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala1854Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala1866Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala1866Thr Uncertain significance Multiple submitters
familial colorectal cancer type X
POLE p.Ala1885Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala189Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala1943Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala1989Gly Uncertain significance Multiple submitters
POLE p.Ala1989Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala1989Thr Uncertain significance Multiple submitters
POLE p.Ala1989Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala1990Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala2006Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala2030Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala2037Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala2040Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala2043Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala2056Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala2056Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala2101Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala2198Val Uncertain significance Multiple submitters
POLE p.Ala2213Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala2239Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala2239Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala2243Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala241Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala241Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala25Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala25Ser Uncertain significance Multiple submitters
facial dysmorphism-immunodeficiency-livedo-short stature syndrome
POLE p.Ala25Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala288Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala31Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala341Pro Uncertain significance Multiple submitters
colorectal cancer, susceptibility to, 12
POLE p.Ala426Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala426Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala427Val Uncertain significance Multiple submitters
colorectal cancer, susceptibility to, 12
POLE p.Ala463Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala465Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala465Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala480Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala480Val Uncertain significance Multiple submitters
colorectal cancer, susceptibility to, 12
POLE p.Ala503Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala565Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala565Ser Uncertain significance Multiple submitters
intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency
POLE p.Ala566Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala566Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala566Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala581Ser Uncertain significance Multiple submitters
intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency
POLE p.Ala581Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala581Val Uncertain significance Multiple submitters
POLE p.Ala608Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala629Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala653Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala653Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala668Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala704Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala716Ser Uncertain significance Multiple submitters
POLE p.Ala716Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala716Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala781Ser Uncertain significance Multiple submitters
POLE p.Ala782Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala788Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala788Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala789Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala846Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala895Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala939Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala944Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala957Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala966Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala97Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg1037Cys Uncertain significance Multiple submitters
facial dysmorphism-immunodeficiency-livedo-short stature syndrome
POLE p.Arg1041Gln Uncertain significance Multiple submitters
facial dysmorphism-immunodeficiency-livedo-short stature syndrome
POLE p.Arg1041Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg1041Trp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg1059Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg1059His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg1059Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg1092Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg1111Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg1125Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg1136Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg1136Trp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg114Gln Uncertain significance Multiple submitters
colorectal cancer, susceptibility to, 12
POLE p.Arg1160Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg1160His Uncertain significance Multiple submitters
POLE-related disorder
POLE p.Arg1160Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg1273Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg1284Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg1284Trp Uncertain significance Multiple submitters
facial dysmorphism-immunodeficiency-livedo-short stature syndrome
POLE p.Arg1286Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg1289Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg1290Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg1303Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg1308Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome

Predictors split 1749

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 1749

POLE p.Ala1022Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala1072Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala1097Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala1150Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala1198Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala129Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala1349Val Uncertain significance Multiple submitters
colorectal cancer, susceptibility to, 12
POLE p.Ala1373Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala1420Val Benign/Likely benign Multiple submitters
facial dysmorphism-immunodeficiency-livedo-short stature syndrome
POLE p.Ala1498Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala1528Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala1574Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala1629Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala1735Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala1814Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala1883Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala1885Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala1885Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala1885Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala19Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala2002Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala2006Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala2101Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala2142Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala2192Gly Uncertain significance Multiple submitters
POLE p.Ala2239Val Uncertain significance Multiple submitters
colorectal cancer, susceptibility to, 12
POLE p.Ala2262Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala252Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala288Gly Uncertain significance Multiple submitters
colorectal cancer, susceptibility to, 12
POLE p.Ala288Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala374Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala377Thr Uncertain significance Multiple submitters
colorectal cancer, susceptibility to, 12
POLE p.Ala399Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala465Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala503Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala565Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala581Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala716Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala760Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala760Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala781Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala782Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala788Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala81Thr Uncertain significance Multiple submitters
colorectal cancer, susceptibility to, 12
POLE p.Ala81Val Uncertain significance Multiple submitters
facial dysmorphism-immunodeficiency-livedo-short stature syndrome
POLE p.Ala846Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Ala895Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg1077Cys Uncertain significance Multiple submitters
colorectal cancer, susceptibility to, 12
POLE p.Arg1082Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg1082Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg1106Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg1106Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg1111Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg1111Trp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg1231Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg1273Trp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg1286Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg1289Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg1289His Uncertain significance Multiple submitters
Polymerase proofreading-related adenomatous polyposis
POLE p.Arg1308Trp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg1346Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg1371Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg1382Cys Uncertain significance Multiple submitters
facial dysmorphism-immunodeficiency-livedo-short stature syndrome
POLE p.Arg1382Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg1386Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg1386Trp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg1436Trp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg1471Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg1471Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg1471His Uncertain significance Multiple submitters
colorectal cancer, susceptibility to, 10
POLE p.Arg1471Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg1485Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg150Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg1519Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg1556Trp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg1566Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg1580Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg1580Trp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg1595Met Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg1626Cys Uncertain significance Multiple submitters
facial dysmorphism-immunodeficiency-livedo-short stature syndrome
POLE p.Arg1626Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg1630Trp Uncertain significance Multiple submitters
colorectal cancer, susceptibility to, 12
POLE p.Arg1631Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg1675His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg1679Cys Uncertain significance Multiple submitters
facial dysmorphism-immunodeficiency-livedo-short stature syndrome
POLE p.Arg1679Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg167Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg167Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg1823Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg1823His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg1826Trp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg1839Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg1858Cys Uncertain significance Multiple submitters
colorectal cancer, susceptibility to, 12
POLE p.Arg1858His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg1870Cys Uncertain significance Multiple submitters
facial dysmorphism-immunodeficiency-livedo-short stature syndrome
POLE p.Arg1870His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg1870Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg1879Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg2017Cys Uncertain significance Multiple submitters
cancer or benign tumor
POLE p.Arg2078Trp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg2131Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg2131His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg2259Gly Uncertain significance Multiple submitters
POLE p.Arg259Cys Uncertain significance Multiple submitters
colorectal cancer, susceptibility to, 12
POLE p.Arg259His Benign/Likely benign Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg259Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg260Gln Benign/Likely benign Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg266Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg346Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg34Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg37Trp Uncertain significance Multiple submitters
facial dysmorphism-immunodeficiency-livedo-short stature syndrome
POLE p.Arg446Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg446Trp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg47Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg579Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg579Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg665Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg685Trp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg705Gln Uncertain significance Multiple submitters
colorectal cancer, susceptibility to, 12
POLE p.Arg705Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg705Trp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg712Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg721Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg728Trp Uncertain significance Multiple submitters
intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency
POLE p.Arg742His Uncertain significance Multiple submitters
facial dysmorphism-immunodeficiency-livedo-short stature syndrome
POLE p.Arg759Cys Uncertain significance Multiple submitters
facial dysmorphism-immunodeficiency-livedo-short stature syndrome
POLE p.Arg759His Uncertain significance Multiple submitters
familial colorectal cancer type X
POLE p.Arg759Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg77Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg77His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg77Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg793Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg793Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg8Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg924Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Arg924Ser Uncertain significance Multiple submitters
colorectal cancer, susceptibility to, 12
POLE p.Arg9Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Asn1369Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Asn1396Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Asn143Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Asn143His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Asn1521Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Asn1638Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Asn1681Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Asn2099His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Asn2189Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
POLE p.Asn2281Lys Uncertain significance Multiple submitters
POLE p.Asn309Ser Uncertain significance Multiple submitters
colorectal cancer, susceptibility to, 12
POLE p.Asn336Ser Benign/Likely benign Multiple submitters
hereditary neoplastic syndrome
POLE p.Asn423Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome

All POLE variants

Pathogenic 310

Showing the top 300 by review status; the full set is in the sitemap.

c.5678+1G>T Multiple submitters colorectal cancer, susceptibility to, 12
p.Leu424Val Multiple submitters Polymerase proofreading-related adenomatous polyposis
c.3632_3795+72del Single submitter
c.4150-388A>G Single submitter
c.4445-1dup Single submitter
c.4552-1dup Single submitter
c.5174-2A>C Single submitter
c.6532-95C>T Single submitter
c.802-307G>T Single submitter
c.910-14A>G Single submitter
p.Ala1007_Lys1008insLeuTer Single submitter
p.Ala1260fs Single submitter
p.Ala1323fs Single submitter
p.Ala1437fs Single submitter
p.Ala1474fs Single submitter
p.Ala1528fs Single submitter
p.Ala1532fs Single submitter
p.Ala1586fs Single submitter
p.Ala1751fs Single submitter
p.Ala1778fs Single submitter facial dysmorphism-immunodeficiency-livedo-short stature syndrome
p.Ala1946fs Single submitter
p.Ala2040fs Single submitter
p.Ala2213fs Single submitter
p.Ala428fs Single submitter
p.Ala448fs Single submitter
p.Ala704fs Single submitter
p.Ala81fs Single submitter
p.Ala840fs Single submitter
p.Arg1041fs Single submitter
p.Arg1082fs Single submitter
p.Arg1136fs Single submitter
p.Arg114Ter Single submitter
p.Arg1193fs Single submitter
p.Arg1231fs Single submitter
p.Arg1346fs Single submitter
p.Arg1364fs Single submitter
p.Arg1382fs Single submitter
p.Arg1436fs Single submitter
p.Arg1634fs Single submitter
p.Arg2145fs Single submitter
p.Arg222fs Single submitter
p.Arg247fs Single submitter
p.Arg310fs Single submitter
p.Arg413fs Single submitter
p.Arg721fs Single submitter
p.Arg749fs Single submitter
p.Arg825fs Single submitter
p.Arg976fs Single submitter
p.Asn1175fs Single submitter
p.Asn1369fs Single submitter
p.Asn1618fs Single submitter
p.Asn1921fs Single submitter
p.Asn1981fs Single submitter
p.Asn518fs Single submitter
p.Asn595_Phe596insTer Single submitter
p.Asn662_Cys663insTer Single submitter
p.Asn875fs Single submitter
p.Asn927fs Single submitter
p.Asp1011fs Single submitter
p.Asp1026fs Single submitter
p.Asp1071fs Single submitter
p.Asp1123fs Single submitter
p.Asp1123Ter Single submitter
p.Asp1211fs Single submitter
p.Asp1214fs Single submitter
p.Asp1309fs Single submitter
p.Asp1663fs Single submitter
p.Asp1710fs Single submitter
p.Asp1918fs Single submitter
p.Asp490fs Single submitter
p.Asp725fs Single submitter
p.Cys1703Ter Single submitter
p.Cys1788_Ser1789insTer Single submitter
p.Cys2010fs Single submitter
p.Cys558fs Single submitter
p.Cys558Ter Single submitter
p.Gln1067Ter Single submitter
p.Gln1194Ter Single submitter
p.Gln1252Ter Single submitter
p.Gln125fs Single submitter
p.Gln1282fs Single submitter
p.Gln1408Ter Single submitter
p.Gln1450Ter Single submitter
p.Gln1507Ter Single submitter
p.Gln1711Ter Single submitter
p.Gln1763Ter Single submitter
p.Gln1808fs Single submitter
p.Gln196Ter Single submitter
p.Gln1984Ter Single submitter
p.Gln2035fs Single submitter
p.Gln2061Ter Single submitter
p.Gln2184fs Single submitter
p.Gln2184Ter Single submitter
p.Gln2191Ter Single submitter intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency
p.Gln2208Ter Single submitter
p.Gln345Ter Single submitter
p.Gln352fs Single submitter
p.Gln401Ter Single submitter
p.Gln451Ter Single submitter
p.Gln453Ter Single submitter
p.Gln508Ter Single submitter
p.Gln522Ter Single submitter
p.Gln805Ter Single submitter
p.Gln986fs Single submitter
p.Gln986Ter Single submitter
p.Glu1062Ter Single submitter
p.Glu1377fs Single submitter
p.Glu1399Ter Single submitter
p.Glu1533fs Single submitter
p.Glu1544fs Single submitter
p.Glu1599Ter Single submitter
p.Glu1648Ter Single submitter
p.Glu1749Ter Single submitter
p.Glu1947fs Single submitter
p.Glu1962fs Single submitter
p.Glu1977fs Single submitter
p.Glu2036fs Single submitter
p.Glu2082Ter Single submitter
p.Glu2155fs Single submitter
p.Glu349Ter Single submitter
p.Glu36fs Single submitter
p.Glu373fs Single submitter
p.Glu386fs Single submitter
p.Glu396_Tyr397insTer Single submitter
p.Glu396fs Single submitter
p.Glu438fs Single submitter
p.Glu450fs Single submitter
p.Glu537Ter Single submitter
p.Glu575fs Single submitter
p.Glu591fs Single submitter
p.Glu701fs Single submitter
p.Glu740Ter Single submitter
p.Glu767fs Single submitter
p.Glu830fs Single submitter
p.Glu851Ter Single submitter
p.Glu947fs Single submitter
p.Gly1065fs Single submitter
p.Gly1305fs Single submitter
p.Gly1482fs Single submitter
p.Gly1927fs Single submitter
p.Gly1936Ter Single submitter
p.Gly2042fs Single submitter
p.Gly2092fs Single submitter
p.Gly2226_Val2227insTer Single submitter
p.Gly302fs Single submitter
p.Gly542fs Single submitter
p.Gly79fs Single submitter
p.His1168fs Single submitter
p.His1551fs Single submitter
p.His1744fs Single submitter
p.His1895fs Single submitter
p.His543fs Single submitter
p.Ile128fs Single submitter
p.Ile1307fs Single submitter
p.Ile1326fs Single submitter
p.Ile1585fs Single submitter
p.Ile1611fs Single submitter
p.Ile170fs Single submitter
p.Ile238fs Single submitter
p.Ile300fs Single submitter
p.Ile307_Thr308delinsMetTer Single submitter
p.Ile622fs Single submitter
p.Ile71_Leu72insTer Single submitter
p.Ile746fs Single submitter
p.Ile834fs Single submitter
p.Ile890fs Single submitter
p.Leu1064fs Single submitter
p.Leu1137fs Single submitter
p.Leu1171fs Single submitter
p.Leu1186Phe Single submitter ⚠
p.Leu1397fs Single submitter
p.Leu1451fs Single submitter
p.Leu1643fs Single submitter
p.Leu1671fs Single submitter
p.Leu1850fs Single submitter
p.Leu1859fs Single submitter
p.Leu1975Ter Single submitter
p.Leu1986fs Single submitter
p.Leu2059fs Single submitter
p.Leu2167fs Single submitter
p.Leu32fs Single submitter
p.Leu35fs Single submitter
p.Leu455fs Single submitter
p.Leu469_Tyr470insTer Single submitter
p.Leu46fs Single submitter
p.Leu570fs Single submitter
p.Leu771fs Single submitter
p.Leu919fs Single submitter
p.Lys101fs Single submitter
p.Lys1115fs Single submitter
p.Lys1170fs Single submitter
p.Lys1276Ter Single submitter
p.Lys149fs Single submitter
p.Lys1928fs Single submitter
p.Lys2069fs Single submitter
p.Lys2073fs Single submitter
p.Lys325fs Single submitter
p.Lys587fs Single submitter
p.Lys59fs Single submitter
p.Lys59Ter Single submitter
p.Lys717_Tyr718insTer Single submitter colorectal cancer, susceptibility to, 12
p.Lys720Ter Single submitter
p.Lys733fs Single submitter
p.Lys884Ter Single submitter
p.Lys995Ter Single submitter
p.Met1024fs Single submitter
p.Met1393fs Single submitter
p.Met1470fs Single submitter
p.Met1706fs Single submitter
p.Met447fs Single submitter
p.Phe104fs Single submitter
p.Phe1553fs Single submitter
p.Phe1856fs Single submitter
p.Phe1900fs Single submitter
p.Phe1907fs Single submitter
p.Phe2175fs Single submitter
p.Phe274fs Single submitter
p.Phe332fs Single submitter
p.Phe366_Phe367insTer Single submitter
p.Phe815fs Single submitter
p.Phe876fs Single submitter
p.Pro1159fs Single submitter
p.Pro1610fs Single submitter
p.Pro172fs Single submitter
p.Pro286fs Single submitter
p.Pro418fs Single submitter
p.Pro557fs Single submitter
p.Pro614fs Single submitter
p.Pro697fs Single submitter
p.Ser1038fs Single submitter
p.Ser1116fs Single submitter
p.Ser1184fs Single submitter
p.Ser1208fs Single submitter
p.Ser121fs Single submitter
p.Ser1380Ter Single submitter
p.Ser1401Ter Single submitter
p.Ser1753fs Single submitter
p.Ser2001Ter Single submitter
p.Ser2034fs Single submitter
p.Ser2084Ter Single submitter
p.Ser459Phe Single submitter
p.Ser461fs Single submitter
p.Ser497fs Single submitter
p.Ser918fs Single submitter
p.Ser925Ter Single submitter
p.Thr1090delinsMetGluArgTer Single submitter
p.Thr1090fs Single submitter
p.Thr1104fs Single submitter
p.Thr1339fs Single submitter
p.Thr1583fs Single submitter
p.Thr26fs Single submitter
p.Thr454fs Single submitter
p.Thr499fs Single submitter
p.Trp1130Ter Single submitter
p.Trp1236fs Single submitter
p.Trp1268Ter Single submitter
p.Trp1458Ter Single submitter
p.Trp1591Ter Single submitter
p.Trp1802Ter Single submitter
p.Trp1916Ter Single submitter
p.Trp243Ter Single submitter facial dysmorphism-immunodeficiency-livedo-short stature syndrome
p.Trp369Ter Single submitter
p.Trp40Ter Single submitter
p.Trp62Ter Single submitter
p.Trp669Ter Single submitter
p.Trp671Ter Single submitter
p.Tyr1018Ter Single submitter
p.Tyr103fs Single submitter
p.Tyr1178Ter Single submitter
p.Tyr1407Ter Single submitter
p.Tyr1530fs Single submitter
p.Tyr1813Ter Single submitter
p.Tyr1865Ter Single submitter
p.Tyr187Ter Single submitter
p.Tyr1922fs Single submitter
p.Tyr2008fs Single submitter
p.Tyr2054Ter Single submitter
p.Tyr224Ter Single submitter
p.Tyr248Ter Single submitter
p.Tyr305Ter Single submitter
p.Tyr397fs Single submitter colorectal cancer, susceptibility to, 12
p.Tyr434fs Single submitter
p.Tyr467Ter Single submitter
p.Tyr468fs Single submitter
p.Tyr470Ter Single submitter
p.Tyr631Ter Single submitter
p.Tyr754Ter Single submitter
p.Tyr801Ter Single submitter
p.Tyr818fs Single submitter
p.Tyr921Ter Single submitter
p.Tyr937fs Single submitter
p.Tyr937Ter Single submitter
p.Val1006fs Single submitter
p.Val1089fs Single submitter
p.Val1161fs Single submitter
p.Val1177fs Single submitter
p.Val1227fs Single submitter
p.Val134fs Single submitter
p.Val1426_Tyr1427insTer Single submitter
p.Val160fs Single submitter

Pathogenic/Likely pathogenic 3

c.1686+32C>G Multiple submitters hereditary neoplastic syndrome
c.5811+1G>A Multiple submitters hereditary neoplastic syndrome
p.Phe48fs Multiple submitters intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency

Likely pathogenic 121

c.3276-1G>C Multiple submitters POLE-related disorder
c.5379-5_5384del Multiple submitters
p.Pro436Ser Multiple submitters colorectal carcinoma
c.1020+1G>A Single submitter
c.1021-1G>C Single submitter
c.1106_1106+1delinsTT Single submitter
c.1106+1G>A Single submitter
c.1106+2T>A Single submitter
c.1106+2T>C Single submitter
c.1106+2T>G Single submitter
c.1107-1G>A Single submitter
c.1107-1G>C Single submitter colorectal cancer, susceptibility to, 12
c.1107-1G>T Single submitter
c.1107-2A>G Single submitter
c.1226+2_1226+5del Single submitter
c.1227-1G>A Single submitter
c.1359+6T>A Single submitter
c.1360-1G>A Single submitter
c.1360-36_1360-1del Single submitter
c.1474-1G>C Single submitter
c.1686+1G>C Single submitter
c.1686+2T>C Single submitter
c.1794+1G>A Single submitter
c.1794+2T>A Single submitter
c.1795-752_1864del Single submitter
c.1916_1923+16del Single submitter
c.1923+2T>A Single submitter
c.2026+2T>C Single submitter
c.2027-1G>A Single submitter
c.204+1G>C Single submitter colorectal cancer, susceptibility to, 12
c.2173+1G>T Single submitter
c.2319+1G>A Single submitter
c.2319+1G>C Single submitter
c.2468+1G>A Single submitter
c.2468+1G>T Single submitter colorectal cancer, susceptibility to, 12
c.2469-2A>G Single submitter
c.2561+1G>A Single submitter
c.2707-2A>G Single submitter
c.285+1G>A Single submitter
c.286-1G>C Single submitter
c.286-2A>T Single submitter
c.2864+1G>T Single submitter
c.2865-1G>A Single submitter
c.2865-1G>T Single submitter facial dysmorphism-immunodeficiency-livedo-short stature syndrome
c.2865-2A>G Single submitter
c.2865-2A>T Single submitter
c.3061-2A>C Single submitter
c.3264_3275+14del Single submitter
c.3275+2T>C Single submitter
c.3276-1G>A Single submitter colorectal cancer, susceptibility to, 12
c.3276-2A>G Single submitter
c.330+1G>T Single submitter
c.330+2T>A Single submitter
c.331-1G>A Single submitter
c.3378+2T>C Single submitter
c.3378+3G>T Single submitter
c.3378+6T>C Single submitter
c.3379-1G>C Single submitter
c.3459+2T>C Single submitter colorectal cancer, susceptibility to, 12
c.3582+1G>A Single submitter
c.3582+2T>C Single submitter
c.3583-1G>A Single submitter
c.4005+1G>C Single submitter
c.4005+1G>T Single submitter
c.4006-2A>T Single submitter
c.4150-1G>C Single submitter
c.423+1G>A Single submitter
c.4291-2A>G Single submitter facial dysmorphism-immunodeficiency-livedo-short stature syndrome
c.4429_4444+1del Single submitter
c.4440_4444+8del Single submitter
c.4444+1_4444+16del Single submitter
c.4444+1G>C Single submitter
c.4444+1G>T Single submitter
c.4445-1G>A Single submitter
c.4445-2A>C Single submitter
c.4552-1G>C Single submitter
c.4728+1G>C Single submitter
c.4729-2A>G Single submitter
c.4952+1G>A Single submitter
c.4953-1G>A Single submitter
c.5103_5173+29del Single submitter
c.5552+2T>C Single submitter
c.5678+2T>C Single submitter
c.5679-1G>A Single submitter
c.578+1G>A Single submitter
c.578+1G>T Single submitter
c.578+2T>A Single submitter
c.579-1G>C Single submitter colorectal cancer, susceptibility to, 12
c.579-2A>G Single submitter colon carcinoma
c.6004+1G>A Single submitter
c.6136+1G>C Single submitter
c.63-2A>G Single submitter
c.6330+1G>A Single submitter
c.6330+2T>A Single submitter
c.6331-2A>G Single submitter
c.6658-1_6667del Single submitter
c.6658-1G>A Single submitter colorectal cancer, susceptibility to, 12
c.6658-1G>C Single submitter
c.720+1G>A Single submitter facial dysmorphism-immunodeficiency-livedo-short stature syndrome
c.721-1G>A Single submitter
c.721-1G>C Single submitter
c.802-2A>G Single submitter
c.909+1G>A Single submitter
c.909+2T>C Single submitter
c.910-13T>A Single submitter
c.910-2A>G Single submitter
p.Asn363Lys Single submitter
p.Asp1131fs Single submitter intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency
p.Gln303fs Single submitter colorectal cancer, susceptibility to, 12
p.Glu1956Val Single submitter facial dysmorphism-immunodeficiency-livedo-short stature syndrome ⚠
p.Gly904fs Single submitter colorectal cancer, susceptibility to, 12
p.Lys110= Single submitter intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency
p.Pro436Arg Single submitter
p.Ser1719Ter Single submitter
p.Ser297Phe Single submitter
p.Ser918Ter Single submitter colorectal cancer, susceptibility to, 12
p.Tyr458His Single submitter colorectal cancer, susceptibility to, 12
p.Tyr458Phe Single submitter
p.Tyr910Ter Single submitter
p.Val2133fs Single submitter intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency
c.4150-19_4156del No assertion criteria POLE-related disorder

Conflicting classifications of pathogenicity 877

Showing the top 300 by review status; the full set is in the sitemap.

c.1020+1G>T Single submitter hereditary neoplastic syndrome
c.1020+3A>G Single submitter hereditary neoplastic syndrome
c.1020+5_1020+6delinsAA Single submitter hereditary neoplastic syndrome
c.1021-20C>G Single submitter
c.1021-26_1045delinsGTTCTACACC Single submitter hereditary neoplastic syndrome
c.1106+20A>G Single submitter
c.1106+3G>A Single submitter hereditary neoplastic syndrome
c.1106+7C>A Single submitter familial colorectal cancer type X
c.1106+9G>C Single submitter colorectal cancer, susceptibility to, 12
c.1107-3C>T Single submitter hereditary neoplastic syndrome
c.1226+1G>A Single submitter hereditary neoplastic syndrome
c.1226+6G>T Single submitter colorectal cancer, susceptibility to, 12
c.1227-2A>T Single submitter hereditary neoplastic syndrome
c.1359+1G>A Single submitter hereditary neoplastic syndrome
c.1359+4C>T Single submitter hereditary neoplastic syndrome
c.1359+5G>A Single submitter intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency
c.1360-14C>T Single submitter POLE-related polyposis and colorectal cancer syndrome
c.1360-20C>G Single submitter hereditary neoplastic syndrome
c.1360-5C>T Single submitter colorectal cancer, susceptibility to, 12
c.1360-6C>A Single submitter
c.1473+1G>A Single submitter hereditary neoplastic syndrome
c.1473+3G>A Single submitter hereditary neoplastic syndrome
c.1473+6C>T Single submitter colorectal cancer, susceptibility to, 12
c.1686+1G>A Single submitter hereditary neoplastic syndrome
c.1686+3G>A Single submitter hereditary neoplastic syndrome
c.1687-19C>A Single submitter
c.1687-2A>G Single submitter hereditary neoplastic syndrome
c.1687-3T>G Single submitter hereditary neoplastic syndrome
c.1687-5G>A Single submitter hereditary neoplastic syndrome
c.1794+5C>A Single submitter hereditary neoplastic syndrome
c.1924-23_1927del Single submitter hereditary neoplastic syndrome
c.1924-5C>T Single submitter POLE-related polyposis and colorectal cancer syndrome
c.2026+1G>T Single submitter hereditary neoplastic syndrome
c.2026+3G>T Single submitter hereditary neoplastic syndrome
c.2027-12C>G Single submitter
c.204+1G>A Single submitter POLE-related disorder
c.204+8C>G Single submitter
c.205-2A>G Single submitter
c.2173+5G>A Single submitter hereditary neoplastic syndrome
c.2320-2A>G Single submitter hereditary neoplastic syndrome
c.2320-5C>T Single submitter hereditary neoplastic syndrome
c.2468+12C>T Single submitter Polymerase proofreading-related adenomatous polyposis
c.2469-10G>A Single submitter Polymerase proofreading-related adenomatous polyposis
c.2469-13G>A Single submitter
c.2469-2_2469-1del Single submitter hereditary neoplastic syndrome
c.2469-5C>T Single submitter
c.2561+1G>T Single submitter hereditary neoplastic syndrome
c.2562-2A>C Single submitter hereditary neoplastic syndrome
c.2562-5T>G Single submitter hereditary neoplastic syndrome
c.2706+1_2706+5del Single submitter hereditary neoplastic syndrome
c.2706+10G>A Single submitter
c.2706+1G>T Single submitter hereditary neoplastic syndrome
c.2706+2T>C Single submitter hereditary neoplastic syndrome
c.2706+5G>A Single submitter Polymerase proofreading-related adenomatous polyposis
c.2707-9G>A Single submitter colorectal cancer, susceptibility to, 12
c.286-12G>A Single submitter
c.286-2A>G Single submitter hereditary neoplastic syndrome
c.286-8_286-7del Single submitter
c.2864+1G>A Single submitter hereditary neoplastic syndrome
c.2864+3G>A Single submitter hereditary neoplastic syndrome
c.2865-3C>T Single submitter hereditary neoplastic syndrome
c.2865-5T>C Single submitter hereditary neoplastic syndrome
c.3060+1G>A Single submitter hereditary neoplastic syndrome
c.3060+2T>G Single submitter hereditary neoplastic syndrome
c.3061-4C>G Single submitter hereditary neoplastic syndrome
c.3264_3275+13del Single submitter hereditary neoplastic syndrome
c.3264_3275+13dup Single submitter
c.3275+1G>A Single submitter hereditary neoplastic syndrome
c.3276-3C>G Single submitter hereditary neoplastic syndrome
c.3276-5C>T Single submitter hereditary neoplastic syndrome
c.330+3G>A Single submitter POLE-related polyposis and colorectal cancer syndrome
c.331-2A>G Single submitter hereditary neoplastic syndrome
c.331-3T>C Single submitter hereditary neoplastic syndrome
c.3379-2A>G Single submitter
c.3379-3C>T Single submitter hereditary neoplastic syndrome
c.3379-4G>A Single submitter POLE-related polyposis and colorectal cancer syndrome
c.3459+1G>A Single submitter hereditary neoplastic syndrome
c.3459+8C>T Single submitter
c.3582+2_3582+3dup Single submitter hereditary neoplastic syndrome
c.3582+5C>T Single submitter Polymerase proofreading-related adenomatous polyposis
c.3582+6G>A Single submitter hereditary neoplastic syndrome
c.3583-3C>T Single submitter hereditary neoplastic syndrome
c.3583-5T>C Single submitter hereditary neoplastic syndrome
c.3583-9T>G Single submitter
c.4006-1G>T Single submitter hereditary neoplastic syndrome
c.4006-2A>C Single submitter hereditary neoplastic syndrome
c.4006-8C>A Single submitter
c.4149+2T>C Single submitter hereditary neoplastic syndrome
c.4149+4G>A Single submitter hereditary neoplastic syndrome
c.4150-2A>G Single submitter hereditary neoplastic syndrome
c.4150-5G>A Single submitter hereditary neoplastic syndrome
c.424-1G>A Single submitter hereditary neoplastic syndrome
c.424-2A>G Single submitter hereditary neoplastic syndrome
c.424-5_424-3del Single submitter hereditary neoplastic syndrome
c.4290+1G>A Single submitter hereditary neoplastic syndrome
c.4290+1G>C Single submitter hereditary neoplastic syndrome
c.4291-3del Single submitter hereditary neoplastic syndrome
c.4444+10G>T Single submitter familial colorectal cancer type X
c.4444+1G>A Single submitter hereditary neoplastic syndrome
c.4444+3A>G Single submitter hereditary neoplastic syndrome
c.4445-2A>G Single submitter familial colorectal cancer type X
c.4445-3C>T Single submitter hereditary neoplastic syndrome
c.4445-7T>C Single submitter
c.4551+10G>A Single submitter
c.4551+2_4551+3del Single submitter hereditary neoplastic syndrome
c.4551+2T>G Single submitter hereditary neoplastic syndrome
c.4551+3G>A Single submitter hereditary neoplastic syndrome
c.4552-4C>G Single submitter hereditary neoplastic syndrome
c.4552-5T>A Single submitter hereditary neoplastic syndrome
c.4552-5T>C Single submitter hereditary neoplastic syndrome
c.4952+17C>T Single submitter colorectal cancer, susceptibility to, 12
c.4952+4A>G Single submitter hereditary neoplastic syndrome
c.4952+5G>A Single submitter hereditary neoplastic syndrome
c.4953-2A>G Single submitter hereditary neoplastic syndrome
c.4953-5T>C Single submitter hereditary neoplastic syndrome
c.5173+1G>T Single submitter POLE-related polyposis and colorectal cancer syndrome
c.5173+2T>C Single submitter hereditary neoplastic syndrome
c.5174-1G>T Single submitter hereditary neoplastic syndrome
c.5174-2A>G Single submitter hereditary neoplastic syndrome
c.5174-6G>C Single submitter hereditary neoplastic syndrome
c.5378+1G>T Single submitter hereditary neoplastic syndrome
c.5378+4C>A Single submitter hereditary neoplastic syndrome
c.5379-15C>T Single submitter
c.5379-19C>T Single submitter colorectal cancer, susceptibility to, 12
c.5379-5T>C Single submitter hereditary neoplastic syndrome
c.5552+1G>A Single submitter hereditary neoplastic syndrome
c.5553-12C>G Single submitter colorectal cancer, susceptibility to, 12
c.5553-1G>A Single submitter
c.5678+1G>A Single submitter hereditary neoplastic syndrome
c.5678+3G>A Single submitter hereditary neoplastic syndrome
c.5678+6G>A Single submitter
c.5679-3C>T Single submitter hereditary neoplastic syndrome
c.5679-5T>G Single submitter hereditary neoplastic syndrome
c.5679-8_5679-6del Single submitter familial colorectal cancer type X
c.579-1G>A Single submitter hereditary neoplastic syndrome
c.579-3T>C Single submitter hereditary neoplastic syndrome
c.579-5C>A Single submitter hereditary neoplastic syndrome
c.579-5C>T Single submitter hereditary neoplastic syndrome
c.5811+5G>A Single submitter hereditary neoplastic syndrome
c.5812-11_5812-10del Single submitter
c.5812-1G>A Single submitter hereditary neoplastic syndrome
c.5812-1G>T Single submitter hereditary neoplastic syndrome
c.6004+5G>T Single submitter familial colorectal cancer type X
c.6136+1G>T Single submitter hereditary neoplastic syndrome
c.63-1G>A Single submitter hereditary neoplastic syndrome
c.63-5C>T Single submitter hereditary neoplastic syndrome
c.6331-18G>A Single submitter
c.6531+4C>T Single submitter hereditary neoplastic syndrome
c.6531+5G>A Single submitter colorectal cancer, susceptibility to, 12
c.6531+6G>T Single submitter Hereditary cancer
c.6651_6657+6delinsTGC Single submitter hereditary neoplastic syndrome
c.6657+1G>A Single submitter hereditary neoplastic syndrome
c.6658-2A>G Single submitter hereditary neoplastic syndrome
c.6658-7C>A Single submitter hereditary neoplastic syndrome
c.6748-6C>T Single submitter
c.720+3G>A Single submitter
c.801+2T>C Single submitter hereditary neoplastic syndrome
c.802-5C>A Single submitter hereditary neoplastic syndrome
c.802-5C>T Single submitter hereditary neoplastic syndrome
c.909+3G>A Single submitter hereditary neoplastic syndrome
c.909+3G>C Single submitter hereditary neoplastic syndrome
c.910-13T>C Single submitter colorectal cancer, susceptibility to, 12
c.910-4C>G Single submitter hereditary neoplastic syndrome
c.910-5G>A Single submitter colorectal cancer, susceptibility to, 12
c.910-5G>T Single submitter hereditary neoplastic syndrome
c.910-6_910-5delinsCA Single submitter hereditary neoplastic syndrome
c.*18G>T Single submitter hereditary neoplastic syndrome
p.Ala1126Ser Single submitter hereditary neoplastic syndrome ⚠
p.Ala1126Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala1140Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala11Gly Single submitter hereditary neoplastic syndrome ⚠
p.Ala1200Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala1209Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala1224Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala1260Pro Single submitter hereditary neoplastic syndrome ⚠
p.Ala1260Thr Single submitter colorectal cancer, susceptibility to, 12 ⚠
p.Ala1288Thr Single submitter Polymerase proofreading-related adenomatous polyposis ⚠
p.Ala1342Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala1375Val Single submitter familial colorectal cancer type X ⚠
p.Ala1379Pro Single submitter hereditary neoplastic syndrome ⚠
p.Ala1379Val Single submitter facial dysmorphism-immunodeficiency-livedo-short stature syndrome ⚠
p.Ala1416Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala1464Pro Single submitter hereditary neoplastic syndrome ⚠
p.Ala1493Ser Single submitter hereditary neoplastic syndrome ⚠
p.Ala1498Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala1510Val Single submitter hereditary neoplastic syndrome
p.Ala1528Thr Single submitter intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency ⚠
p.Ala1574Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala15Val Single submitter colorectal cancer, susceptibility to, 12 ⚠
p.Ala1614Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala1690Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala1751= Single submitter hereditary neoplastic syndrome
p.Ala1751Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala1775fs Single submitter hereditary neoplastic syndrome
p.Ala1776Ser Single submitter hereditary neoplastic syndrome ⚠
p.Ala1778Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala1778Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala1780= Single submitter hereditary neoplastic syndrome
p.Ala183Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala1854= Single submitter hereditary neoplastic syndrome
p.Ala1854Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala186Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala186Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala1946Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala1967Val Single submitter POLE-related disorder ⚠
p.Ala2030fs Single submitter colorectal cancer, susceptibility to, 12
p.Ala2040Val Single submitter facial dysmorphism-immunodeficiency-livedo-short stature syndrome ⚠
p.Ala2056Thr Single submitter intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency ⚠
p.Ala2180Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala2180Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala2192Val Single submitter facial dysmorphism-immunodeficiency-livedo-short stature syndrome ⚠
p.Ala2198Asp Single submitter hereditary neoplastic syndrome ⚠
p.Ala2243Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala25Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala341Asp Single submitter hereditary neoplastic syndrome ⚠
p.Ala341Ser Single submitter hereditary neoplastic syndrome ⚠
p.Ala374Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala428Thr Single submitter colorectal cancer, susceptibility to, 10 ⚠
p.Ala430Thr Single submitter colorectal cancer, susceptibility to, 12 ⚠
p.Ala512Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala668Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala724Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala724Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala730fs Single submitter hereditary neoplastic syndrome
p.Ala781Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala895Thr Single submitter Hereditary cancer ⚠
p.Ala914Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala992Thr Single submitter hereditary neoplastic syndrome ⚠
p.Arg1041= Single submitter hereditary neoplastic syndrome
p.Arg1077fs Single submitter hereditary neoplastic syndrome
p.Arg1077His Single submitter facial dysmorphism-immunodeficiency-livedo-short stature syndrome ⚠
p.Arg1082His Single submitter neuroepithelial neoplasm ⚠
p.Arg109Lys Single submitter hereditary neoplastic syndrome ⚠
p.Arg1125Ter Single submitter hereditary neoplastic syndrome
p.Arg1206Met Single submitter hereditary neoplastic syndrome ⚠
p.Arg1233Gln Single submitter colorectal cancer, susceptibility to, 12 ⚠
p.Arg1233Ter Single submitter hereditary neoplastic syndrome
p.Arg1273Leu Single submitter POLE-related disorder ⚠
p.Arg1284Gln Single submitter hereditary neoplastic syndrome ⚠
p.Arg1286His Single submitter facial dysmorphism-immunodeficiency-livedo-short stature syndrome ⚠
p.Arg1294Cys Single submitter hereditary neoplastic syndrome ⚠
p.Arg1294His Single submitter hereditary neoplastic syndrome ⚠
p.Arg1294Leu Single submitter POLE-related disorder ⚠
p.Arg1303Ser Single submitter hereditary neoplastic syndrome ⚠
p.Arg1320Ter Single submitter hereditary neoplastic syndrome
p.Arg1324His Single submitter colorectal cancer, susceptibility to, 12 ⚠
p.Arg1359Ser Single submitter hereditary neoplastic syndrome ⚠
p.Arg1371Gln Single submitter hereditary neoplastic syndrome ⚠
p.Arg1371Ter Single submitter Polymerase proofreading-related adenomatous polyposis
p.Arg1382His Single submitter hereditary neoplastic syndrome ⚠
p.Arg1390His Single submitter hereditary neoplastic syndrome ⚠
p.Arg1436Gln Single submitter facial dysmorphism-immunodeficiency-livedo-short stature syndrome ⚠
p.Arg1508His Single submitter hereditary neoplastic syndrome ⚠
p.Arg1509Gly Single submitter hereditary neoplastic syndrome ⚠
p.Arg150Ter Single submitter hereditary neoplastic syndrome
p.Arg1519Cys Single submitter intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency ⚠
p.Arg154Lys Single submitter facial dysmorphism-immunodeficiency-livedo-short stature syndrome ⚠
p.Arg1570Ter Single submitter hereditary neoplastic syndrome
p.Arg1631His Single submitter hereditary neoplastic syndrome ⚠
p.Arg1634His Single submitter colorectal cancer, susceptibility to, 12 ⚠
p.Arg1679His Single submitter colorectal cancer, susceptibility to, 12 ⚠
p.Arg1826Gln Single submitter hereditary neoplastic syndrome ⚠
p.Arg1879His Single submitter intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency ⚠
p.Arg1909Ter Single submitter hereditary neoplastic syndrome
p.Arg1932Cys Single submitter facial dysmorphism-immunodeficiency-livedo-short stature syndrome ⚠
p.Arg1932His Single submitter hereditary neoplastic syndrome ⚠
p.Arg1932Leu Single submitter hereditary neoplastic syndrome ⚠
p.Arg2017His Single submitter Polymerase proofreading-related adenomatous polyposis ⚠
p.Arg2026Lys Single submitter hereditary neoplastic syndrome ⚠
p.Arg21= Single submitter hereditary neoplastic syndrome
p.Arg2127Ter Single submitter hereditary neoplastic syndrome
p.Arg2145Gln Single submitter facial dysmorphism-immunodeficiency-livedo-short stature syndrome ⚠
p.Arg2145Ter Single submitter familial colorectal cancer
p.Arg2149Cys Single submitter Polymerase proofreading-related adenomatous polyposis ⚠
p.Arg2149His Single submitter hereditary neoplastic syndrome ⚠
p.Arg2149Leu Single submitter hereditary neoplastic syndrome ⚠
p.Arg2159Cys Single submitter hereditary neoplastic syndrome ⚠
p.Arg2159His Single submitter Polymerase proofreading-related adenomatous polyposis ⚠
p.Arg2225Cys Single submitter facial dysmorphism-immunodeficiency-livedo-short stature syndrome ⚠
p.Arg2225Gly Single submitter hereditary neoplastic syndrome ⚠
p.Arg2225His Single submitter Hereditary cancer ⚠
p.Arg222Cys Single submitter familial colorectal cancer type X ⚠
p.Arg2259Gln Single submitter colorectal cancer, susceptibility to, 12 ⚠
p.Arg2259Trp Single submitter hereditary neoplastic syndrome ⚠
p.Arg231Cys Single submitter Polymerase proofreading-related adenomatous polyposis ⚠
p.Arg249Ter Single submitter hereditary neoplastic syndrome
p.Arg260Ter Single submitter hereditary neoplastic syndrome
p.Arg266Ter Single submitter hereditary neoplastic syndrome
p.Arg446Gln Single submitter hereditary neoplastic syndrome ⚠
p.Arg47Gln Single submitter hereditary neoplastic syndrome ⚠
p.Arg47Trp Single submitter colorectal cancer, susceptibility to, 12 ⚠
p.Arg4Gly Single submitter hereditary neoplastic syndrome ⚠
p.Arg52Gln Single submitter hereditary neoplastic syndrome ⚠
p.Arg52Trp Single submitter familial colorectal cancer type X ⚠
p.Arg579His Single submitter hereditary neoplastic syndrome ⚠
p.Arg672= Single submitter hereditary neoplastic syndrome
p.Arg672Lys Single submitter hereditary neoplastic syndrome ⚠
p.Arg722fs Single submitter hereditary neoplastic syndrome
p.Arg728Gln Single submitter hereditary neoplastic syndrome ⚠
p.Arg764= Single submitter hereditary neoplastic syndrome

Benign 128

c.1020+124A>G Multiple submitters
c.1226+45C>T Multiple submitters hereditary neoplastic syndrome
c.1359+144G>T Multiple submitters
c.1359+43G>A Multiple submitters hereditary neoplastic syndrome
c.1686+74A>T Multiple submitters
c.2027-61T>C Multiple submitters
c.2320-104T>C Multiple submitters
c.2320-13A>G Multiple submitters hereditary neoplastic syndrome
c.2469-15G>A Multiple submitters hereditary neoplastic syndrome
c.2469-227C>T Multiple submitters
c.2469-96G>T Multiple submitters
c.2562-48T>C Multiple submitters facial dysmorphism-immunodeficiency-livedo-short stature syndrome
c.286-96G>A Multiple submitters
c.2864+37A>G Multiple submitters intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency
c.3060+189C>T Multiple submitters
c.3275+92T>C Multiple submitters
c.3379-5T>C Multiple submitters hereditary neoplastic syndrome
c.3582+17A>G Multiple submitters intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency
c.3583-356G>A Multiple submitters
c.3583-431G>A Multiple submitters
c.3795+67C>T Multiple submitters
c.3796-58A>G Multiple submitters
c.4006-55G>A Multiple submitters
c.4149+152C>T Multiple submitters
c.4149+69C>A Multiple submitters
c.4150-107C>T Multiple submitters
c.4290+102A>T Multiple submitters
c.4290+5C>T Multiple submitters colorectal cancer, susceptibility to, 12
c.4291-84A>C Multiple submitters
c.4444+4T>A Multiple submitters POLE-related polyposis and colorectal cancer syndrome
c.4445-33C>T Multiple submitters
c.4552-10G>T Multiple submitters colorectal cancer, susceptibility to, 12
c.5173+39G>A Multiple submitters intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency
c.5553-43T>C Multiple submitters facial dysmorphism-immunodeficiency-livedo-short stature syndrome
c.5678+78C>G Multiple submitters
c.5678+83C>T Multiple submitters
c.5679-127G>A Multiple submitters
c.5679-82A>G Multiple submitters
c.579-224G>C Multiple submitters
c.5811+96C>T Multiple submitters
c.5812-21G>A Multiple submitters intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency
c.6005-212A>G Multiple submitters
c.6005-272G>A Multiple submitters
c.6005-279C>T Multiple submitters
c.63-22G>A Multiple submitters hereditary neoplastic syndrome
c.6330+15G>A Multiple submitters POLE-related polyposis and colorectal cancer syndrome
c.6330+19G>A Multiple submitters colorectal cancer, susceptibility to, 12
c.6532-72C>T Multiple submitters
c.6657+16C>T Multiple submitters facial dysmorphism-immunodeficiency-livedo-short stature syndrome
c.6657+227G>A Multiple submitters
c.6657+284A>G Multiple submitters
c.6657+64C>T Multiple submitters
c.6658-200C>T Multiple submitters
c.721-54A>G Multiple submitters
c.801+78A>G Multiple submitters
c.802-71T>C Multiple submitters
c.910-157A>G Multiple submitters
c.910-6G>C Multiple submitters POLE-related polyposis and colorectal cancer syndrome
c.*90A>G Multiple submitters
p.Ala1510= Multiple submitters intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency
p.Ala1778= Multiple submitters colorectal cancer, susceptibility to, 12
p.Ala252Val Multiple submitters colorectal cancer, susceptibility to, 12
p.Ala31Ser Multiple submitters hereditary neoplastic syndrome
p.Asn1396Ser Multiple submitters intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency
p.Cys1935Tyr Multiple submitters hereditary neoplastic syndrome
p.Lys1042= Multiple submitters colorectal cancer, susceptibility to, 12
p.Phe695Ile Multiple submitters hereditary neoplastic syndrome
p.Pro441= Multiple submitters colorectal cancer, susceptibility to, 12
p.Ser780= Multiple submitters colorectal cancer, susceptibility to, 12
c.1227-149T>C Single submitter
c.1227-257G>A Single submitter
c.1227-276A>C Single submitter
c.1227-278G>A Single submitter
c.1686+151del Single submitter
c.1687-109C>T Single submitter
c.1687-16C>G Single submitter colorectal cancer, susceptibility to, 12
c.1924-7del Single submitter
c.2027-17del Single submitter
c.2173+273del Single submitter
c.2174-303G>A Single submitter
c.2319+15del Single submitter
c.2319+272G>A Single submitter
c.2319+301A>T Single submitter
c.2320-281C>G Single submitter
c.2706+151dup Single submitter
c.2707-252G>A Single submitter
c.3275+15del Single submitter
c.3275+15dup Single submitter
c.3276-186_3276-185insACAC Single submitter
c.331-19del Single submitter
c.3378+63_3378+64del Single submitter
c.3582+263G>A Single submitter
c.3583-164T>C Single submitter
c.4150-90dup Single submitter
c.4290+10del Single submitter
c.4729-16dup Single submitter colorectal cancer, susceptibility to, 12
c.5378+23G>C Single submitter
c.5379-241_5379-240insGGGTTGTGTTGA Single submitter
c.5379-293T>C Single submitter
c.5678+159G>A Single submitter
c.578+291T>G Single submitter
c.5811+313T>C Single submitter
c.5812-123G>A Single submitter
c.5812-282del Single submitter
c.63-139_63-135del Single submitter
c.63-223G>A Single submitter
c.63-255C>T Single submitter
c.63-65del Single submitter
c.63-72dup Single submitter
c.63-82dup Single submitter
c.6330+162T>C Single submitter
c.6330+290T>C Single submitter
c.6331-298_6331-297del Single submitter
c.6657+219G>A Single submitter
c.720+10del Single submitter
c.802-46_802-17dup Single submitter colorectal cancer, susceptibility to, 12
p.Asp435= Single submitter colorectal cancer, susceptibility to, 12
p.Asp440= Single submitter colorectal cancer, susceptibility to, 12
p.Glu277= Single submitter colorectal cancer, susceptibility to, 12
p.Glu353= Single submitter colorectal cancer, susceptibility to, 12
p.His475= Single submitter colorectal cancer, susceptibility to, 12
p.Ile307= Single submitter colorectal cancer, susceptibility to, 12
p.Ile403= Single submitter colorectal cancer, susceptibility to, 12
p.Lys412= Single submitter colorectal cancer, susceptibility to, 12
p.Phe285= Single submitter colorectal cancer, susceptibility to, 12
p.Pro269= Single submitter colorectal cancer, susceptibility to, 12
p.Pro489_Asp490= Single submitter colorectal cancer, susceptibility to, 12
c.6658-137G>A No assertion criteria

Benign/Likely benign 195

c.1359+18C>T Multiple submitters colorectal cancer, susceptibility to, 12
c.1359+19G>A Multiple submitters
c.1359+9G>A Multiple submitters POLE-related polyposis and colorectal cancer syndrome
c.1360-6C>T Multiple submitters Polymerase proofreading-related adenomatous polyposis
c.1794+35_1794+36del Multiple submitters
c.1794+5C>T Multiple submitters hereditary neoplastic syndrome
c.1795-22C>T Multiple submitters
c.1924-6T>C Multiple submitters POLE-related polyposis and colorectal cancer syndrome
c.2026+9C>T Multiple submitters hereditary neoplastic syndrome
c.2174-8G>A Multiple submitters colorectal cancer, susceptibility to, 12
c.2468+10C>T Multiple submitters hereditary neoplastic syndrome
c.2561+6T>C Multiple submitters intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency
c.2706+9dup Multiple submitters
c.285+13C>A Multiple submitters POLE-related polyposis and colorectal cancer syndrome
c.2865-17_2865-16dup Multiple submitters Polymerase proofreading-related adenomatous polyposis
c.2865-4del Multiple submitters POLE-related polyposis and colorectal cancer syndrome
c.2865-4dup Multiple submitters POLE-related polyposis and colorectal cancer syndrome
c.2865-5_2865-4del Multiple submitters hereditary neoplastic syndrome
c.2865-6_2865-4del Multiple submitters hereditary neoplastic syndrome
c.3265_3275+15dup Multiple submitters familial colorectal cancer type X
c.3275+12_3275+37del Multiple submitters
c.3275+12_3275+37dup Multiple submitters colorectal cancer, susceptibility to, 12
c.3275+16A>G Multiple submitters colorectal cancer, susceptibility to, 12
c.3378+10A>G Multiple submitters familial colorectal cancer type X
c.3378+15C>T Multiple submitters colorectal cancer, susceptibility to, 12
c.3378+7G>T Multiple submitters hereditary neoplastic syndrome
c.3582+7G>A Multiple submitters
c.4150-12T>C Multiple submitters hereditary neoplastic syndrome
c.4150-6C>T Multiple submitters colorectal cancer, susceptibility to, 12
c.424-9G>A Multiple submitters familial colorectal cancer type X
c.4952+17_4952+19dup Multiple submitters hereditary neoplastic syndrome
c.5174-17G>A Multiple submitters colorectal cancer, susceptibility to, 12
c.5678+4C>T Multiple submitters facial dysmorphism-immunodeficiency-livedo-short stature syndrome
c.5811+13C>T Multiple submitters familial colorectal cancer type X
c.5811+16T>C Multiple submitters hereditary neoplastic syndrome
c.5811+46G>A Multiple submitters
c.6004+11A>G Multiple submitters hereditary neoplastic syndrome
c.63-14C>T Multiple submitters colorectal cancer, susceptibility to, 12
c.6330+18C>T Multiple submitters colorectal cancer, susceptibility to, 12
c.6331-8C>T Multiple submitters colorectal cancer, susceptibility to, 12
c.6657+9T>C Multiple submitters
c.6658-19C>G Multiple submitters colorectal cancer, susceptibility to, 12
c.6748-11T>A Multiple submitters POLE-related polyposis and colorectal cancer syndrome
p.Ala1198= Multiple submitters hereditary neoplastic syndrome
p.Ala1349= Multiple submitters hereditary neoplastic syndrome
p.Ala1420Val Multiple submitters facial dysmorphism-immunodeficiency-livedo-short stature syndrome ⚠
p.Ala1498= Multiple submitters familial colorectal cancer type X
p.Ala1712Val Multiple submitters hereditary neoplastic syndrome
p.Ala2037= Multiple submitters hereditary neoplastic syndrome
p.Ala2192= Multiple submitters hereditary neoplastic syndrome
p.Ala273= Multiple submitters colorectal cancer, susceptibility to, 12
p.Ala288= Multiple submitters colorectal cancer, susceptibility to, 12
p.Ala399= Multiple submitters colorectal cancer, susceptibility to, 12
p.Ala427= Multiple submitters hereditary neoplastic syndrome
p.Ala428= Multiple submitters colorectal cancer, susceptibility to, 12
p.Ala448= Multiple submitters hereditary neoplastic syndrome
p.Ala463= Multiple submitters hereditary neoplastic syndrome
p.Ala480= Multiple submitters colorectal cancer, susceptibility to, 12
p.Ala480_Leu481= Multiple submitters hereditary neoplastic syndrome
p.Arg2165= Multiple submitters hereditary neoplastic syndrome
p.Arg2165His Multiple submitters hereditary neoplastic syndrome
p.Arg2225= Multiple submitters familial colorectal cancer type X
p.Arg259His Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg260Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg446= Multiple submitters colorectal cancer, susceptibility to, 12
p.Arg976= Multiple submitters colorectal cancer, susceptibility to, 12
p.Asn1412= Multiple submitters hereditary neoplastic syndrome
p.Asn1415= Multiple submitters hereditary neoplastic syndrome
p.Asn309= Multiple submitters colorectal cancer, susceptibility to, 12
p.Asn336= Multiple submitters hereditary neoplastic syndrome
p.Asn336Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn363= Multiple submitters colorectal cancer, susceptibility to, 12
p.Asn423= Multiple submitters colorectal cancer, susceptibility to, 12
p.Asn927= Multiple submitters Polymerase proofreading-related adenomatous polyposis
p.Asp1045= Multiple submitters hereditary neoplastic syndrome
p.Asp185= Multiple submitters familial colorectal cancer type X
p.Asp275= Multiple submitters colorectal cancer, susceptibility to, 12
p.Asp301= Multiple submitters colorectal cancer, susceptibility to, 12
p.Asp319= Multiple submitters hereditary neoplastic syndrome
p.Asp339= Multiple submitters hereditary neoplastic syndrome
p.Asp365= Multiple submitters colorectal cancer, susceptibility to, 12
p.Asp368= Multiple submitters hereditary neoplastic syndrome
p.Asp392= Multiple submitters hereditary neoplastic syndrome
p.Asp443= Multiple submitters colorectal cancer, susceptibility to, 12
p.Asp490= Multiple submitters colorectal cancer, susceptibility to, 12
p.Asp530= Multiple submitters hereditary neoplastic syndrome
p.Asp962= Multiple submitters hereditary neoplastic syndrome
p.Cys1788= Multiple submitters facial dysmorphism-immunodeficiency-livedo-short stature syndrome
p.Cys2238= Multiple submitters familial colorectal cancer type X
p.Cys402= Multiple submitters colorectal cancer, susceptibility to, 12
p.Cys407= Multiple submitters colorectal cancer, susceptibility to, 12
p.Cys482= Multiple submitters hereditary neoplastic syndrome
p.Gln292= Multiple submitters hereditary neoplastic syndrome
p.Gln390= Multiple submitters hereditary neoplastic syndrome
p.Gln520= Multiple submitters hereditary neoplastic syndrome
p.Glu1577Ala Multiple submitters hereditary neoplastic syndrome
p.Glu2140Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu315= Multiple submitters hereditary neoplastic syndrome
p.Glu321= Multiple submitters colorectal cancer, susceptibility to, 12
p.Glu337= Multiple submitters colorectal cancer, susceptibility to, 12
p.Glu373= Multiple submitters hereditary neoplastic syndrome
p.Glu386= Multiple submitters hereditary neoplastic syndrome
p.Glu396= Multiple submitters colorectal cancer, susceptibility to, 12
p.Glu442= Multiple submitters colorectal cancer, susceptibility to, 12
p.Glu450= Multiple submitters colorectal cancer, susceptibility to, 12
p.Glu488= Multiple submitters colorectal cancer, susceptibility to, 12
p.Gly1923= Multiple submitters hereditary neoplastic syndrome
p.Gly2256Arg Multiple submitters colorectal cancer, susceptibility to, 12
p.Gly302= Multiple submitters colorectal cancer, susceptibility to, 12
p.Gly364= Multiple submitters colorectal cancer, susceptibility to, 12
p.Gly380= Multiple submitters hereditary neoplastic syndrome
p.Gly388= Multiple submitters colorectal cancer, susceptibility to, 12
p.Gly420= Multiple submitters hereditary neoplastic syndrome
p.Gly433= Multiple submitters hereditary neoplastic syndrome
p.His1163= Multiple submitters hereditary neoplastic syndrome
p.His182= Multiple submitters colorectal cancer, susceptibility to, 12
p.His342= Multiple submitters familial colorectal cancer type X
p.His350= Multiple submitters colorectal cancer, susceptibility to, 12
p.His379= Multiple submitters hereditary neoplastic syndrome
p.His404= Multiple submitters colorectal cancer, susceptibility to, 12
p.Ile1585= Multiple submitters hereditary neoplastic syndrome
p.Ile2199= Multiple submitters hereditary neoplastic syndrome
p.Ile2255Phe Multiple submitters facial dysmorphism-immunodeficiency-livedo-short stature syndrome ⚠
p.Ile276= Multiple submitters hereditary neoplastic syndrome
p.Ile300= Multiple submitters hereditary neoplastic syndrome
p.Ile312= Multiple submitters hereditary neoplastic syndrome
p.Ile344= Multiple submitters hereditary neoplastic syndrome
p.Ile358= Multiple submitters colorectal cancer, susceptibility to, 12
p.Ile484= Multiple submitters colorectal cancer, susceptibility to, 12
p.Ile635= Multiple submitters Polymerase proofreading-related adenomatous polyposis
p.Leu1832= Multiple submitters hereditary neoplastic syndrome
p.Leu1914= Multiple submitters Polymerase proofreading-related adenomatous polyposis
p.Leu2274Val Multiple submitters familial colorectal cancer type X
p.Leu281= Multiple submitters hereditary neoplastic syndrome
p.Leu283= Multiple submitters hereditary neoplastic syndrome
p.Leu381= Multiple submitters colorectal cancer, susceptibility to, 12
p.Leu408= Multiple submitters hereditary neoplastic syndrome
p.Leu432= Multiple submitters hereditary neoplastic syndrome
p.Leu439= Multiple submitters colorectal cancer, susceptibility to, 12
p.Leu469= Multiple submitters colorectal cancer, susceptibility to, 12
p.Leu868= Multiple submitters Hereditary cancer
p.Leu979= Multiple submitters colorectal cancer, susceptibility to, 12
p.Leu994= Multiple submitters hereditary neoplastic syndrome
p.Lys1857Arg Multiple submitters hereditary neoplastic syndrome
p.Lys280= Multiple submitters hereditary neoplastic syndrome
p.Lys325= Multiple submitters colorectal cancer, susceptibility to, 12
p.Lys391= Multiple submitters hereditary neoplastic syndrome
p.Lys431= Multiple submitters colorectal cancer, susceptibility to, 12
p.Lys472= Multiple submitters hereditary neoplastic syndrome
p.Phe1030= Multiple submitters hereditary neoplastic syndrome
p.Phe1647= Multiple submitters colorectal cancer, susceptibility to, 12
p.Phe1667= Multiple submitters colorectal cancer, susceptibility to, 12
p.Phe1708= Multiple submitters hereditary neoplastic syndrome
p.Phe322= Multiple submitters colorectal cancer, susceptibility to, 12
p.Phe332= Multiple submitters colorectal cancer, susceptibility to, 12
p.Phe366= Multiple submitters hereditary neoplastic syndrome
p.Phe477= Multiple submitters colorectal cancer, susceptibility to, 12
p.Pro1205= Multiple submitters hereditary neoplastic syndrome
p.Pro254= Multiple submitters colorectal cancer, susceptibility to, 12
p.Pro282= Multiple submitters colorectal cancer, susceptibility to, 12
p.Pro326= Multiple submitters hereditary neoplastic syndrome
p.Pro338= Multiple submitters intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency
p.Pro356= Multiple submitters colorectal cancer, susceptibility to, 12
p.Pro370= Multiple submitters colorectal cancer, susceptibility to, 12
p.Pro697Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser1861= Multiple submitters familial colorectal cancer type X
p.Ser28= Multiple submitters Polymerase proofreading-related adenomatous polyposis
p.Ser459= Multiple submitters colorectal cancer, susceptibility to, 12
p.Ser461= Multiple submitters colorectal cancer, susceptibility to, 12
p.Thr2273Ser Multiple submitters hereditary neoplastic syndrome
p.Thr278= Multiple submitters colorectal cancer, susceptibility to, 12
p.Thr323= Multiple submitters colorectal cancer, susceptibility to, 12
p.Thr354= Multiple submitters colorectal cancer, susceptibility to, 12
p.Thr41= Multiple submitters familial colorectal cancer type X
p.Thr449= Multiple submitters colorectal cancer, susceptibility to, 12
p.Tyr187= Multiple submitters hereditary neoplastic syndrome
p.Tyr2151= Multiple submitters hereditary neoplastic syndrome
p.Tyr224= Multiple submitters hereditary neoplastic syndrome
p.Tyr2265= Multiple submitters hereditary neoplastic syndrome
p.Tyr298= Multiple submitters colorectal cancer, susceptibility to, 12
p.Tyr328= Multiple submitters hereditary neoplastic syndrome
p.Tyr362= Multiple submitters hereditary neoplastic syndrome
p.Tyr397= Multiple submitters colorectal cancer, susceptibility to, 12
p.Tyr416= Multiple submitters colorectal cancer, susceptibility to, 12
p.Tyr467= Multiple submitters hereditary neoplastic syndrome
p.Tyr470= Multiple submitters colorectal cancer, susceptibility to, 12
p.Tyr473= Multiple submitters colorectal cancer, susceptibility to, 12
p.Tyr754= Multiple submitters hereditary neoplastic syndrome
p.Tyr84= Multiple submitters intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency
p.Val1514Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Val270= Multiple submitters hereditary neoplastic syndrome
p.Val313= Multiple submitters hereditary neoplastic syndrome
p.Val437= Multiple submitters hereditary neoplastic syndrome
p.Val464= Multiple submitters colorectal cancer, susceptibility to, 12
p.Val474= Multiple submitters hereditary neoplastic syndrome

Likely benign 3186

Showing the top 300 by review status; the full set is in the sitemap.

c.1020+10T>C Multiple submitters colorectal cancer, susceptibility to, 12
c.1020+9G>T Multiple submitters colorectal cancer, susceptibility to, 12
c.1021-10T>C Multiple submitters colorectal cancer, susceptibility to, 12
c.1021-11C>T Multiple submitters colorectal cancer, susceptibility to, 12
c.1021-13G>C Multiple submitters colorectal cancer, susceptibility to, 12
c.1021-15G>A Multiple submitters colorectal cancer, susceptibility to, 12
c.1021-18G>C Multiple submitters colorectal cancer, susceptibility to, 12
c.1021-18G>T Multiple submitters colorectal cancer, susceptibility to, 12
c.1021-6G>A Multiple submitters colorectal cancer, susceptibility to, 12
c.1021-6G>T Multiple submitters colorectal cancer, susceptibility to, 12
c.1021-9T>C Multiple submitters colorectal cancer, susceptibility to, 12
c.1106+10T>C Multiple submitters colorectal cancer, susceptibility to, 12
c.1106+11G>T Multiple submitters hereditary neoplastic syndrome
c.1106+12T>C Multiple submitters
c.1106+8T>C Multiple submitters colorectal cancer, susceptibility to, 12
c.1106+8T>G Multiple submitters colorectal cancer, susceptibility to, 12
c.1106+9G>A Multiple submitters colorectal cancer, susceptibility to, 12
c.1106+9G>T Multiple submitters colorectal cancer, susceptibility to, 12
c.1107-14T>C Multiple submitters colorectal cancer, susceptibility to, 12
c.1107-16C>T Multiple submitters colorectal cancer, susceptibility to, 12
c.1107-4C>T Multiple submitters colorectal cancer, susceptibility to, 12
c.1107-5C>T Multiple submitters colorectal cancer, susceptibility to, 12
c.1107-7A>G Multiple submitters colorectal cancer, susceptibility to, 12
c.1107-8C>T Multiple submitters colorectal cancer, susceptibility to, 12
c.1226+13G>A Multiple submitters POLE-related polyposis and colorectal cancer syndrome
c.1226+7G>A Multiple submitters colorectal cancer, susceptibility to, 12
c.1226+8C>T Multiple submitters colorectal cancer, susceptibility to, 12
c.1227-13A>G Multiple submitters colorectal cancer, susceptibility to, 12
c.1227-19G>A Multiple submitters colorectal cancer, susceptibility to, 12
c.1227-4C>T Multiple submitters colorectal cancer, susceptibility to, 12
c.1227-7C>T Multiple submitters colorectal cancer, susceptibility to, 12
c.1227-8C>T Multiple submitters hereditary neoplastic syndrome
c.1359+10C>G Multiple submitters colorectal cancer, susceptibility to, 12
c.1360-10C>G Multiple submitters hereditary neoplastic syndrome
c.1360-10C>T Multiple submitters colorectal cancer, susceptibility to, 12
c.1360-12T>C Multiple submitters colorectal cancer, susceptibility to, 12
c.1360-13G>A Multiple submitters POLE-related polyposis and colorectal cancer syndrome
c.1360-13G>C Multiple submitters colorectal cancer, susceptibility to, 12
c.1360-18C>T Multiple submitters colorectal cancer, susceptibility to, 12
c.1360-7T>C Multiple submitters colorectal cancer, susceptibility to, 12
c.1360-8C>T Multiple submitters colorectal cancer, susceptibility to, 12
c.1360-9T>C Multiple submitters colorectal cancer, susceptibility to, 12
c.1473+10A>G Multiple submitters colorectal cancer, susceptibility to, 12
c.1473+75G>A Multiple submitters
c.1473+7A>G Multiple submitters colorectal cancer, susceptibility to, 12
c.1474-13G>A Multiple submitters colorectal cancer, susceptibility to, 12
c.1474-14G>T Multiple submitters
c.1474-4G>T Multiple submitters hereditary neoplastic syndrome
c.1474-7C>T Multiple submitters familial colorectal cancer type X
c.1687-10G>A Multiple submitters
c.1687-13A>G Multiple submitters colorectal cancer, susceptibility to, 12
c.1687-17T>C Multiple submitters
c.1687-4C>G Multiple submitters hereditary neoplastic syndrome
c.1687-4C>T Multiple submitters hereditary neoplastic syndrome
c.1794+11_1794+12insA Multiple submitters
c.1794+16G>A Multiple submitters
c.1795-11T>C Multiple submitters Polymerase proofreading-related adenomatous polyposis
c.1795-13G>A Multiple submitters colon carcinoma
c.1795-14C>T Multiple submitters colorectal cancer, susceptibility to, 12
c.1795-16T>G Multiple submitters
c.1795-216G>A Multiple submitters
c.1923+12C>G Multiple submitters
c.1923+15C>A Multiple submitters
c.1923+18G>A Multiple submitters
c.1924-6del Multiple submitters hereditary neoplastic syndrome
c.2026+10G>A Multiple submitters
c.2026+13C>T Multiple submitters familial colorectal cancer type X
c.2026+14G>T Multiple submitters colorectal cancer, susceptibility to, 12
c.2026+18_2026+62del Multiple submitters
c.2027-11C>T Multiple submitters
c.2027-16A>G Multiple submitters colorectal cancer, susceptibility to, 12
c.2173+11G>A Multiple submitters
c.2173+9C>T Multiple submitters
c.2174-11G>A Multiple submitters colorectal cancer, susceptibility to, 12
c.2174-12C>T Multiple submitters
c.2174-15C>T Multiple submitters colorectal cancer, susceptibility to, 12
c.2174-9C>T Multiple submitters
c.2319+14G>A Multiple submitters
c.2319+19C>T Multiple submitters
c.2320-113T>C Multiple submitters
c.2320-12T>C Multiple submitters
c.2320-156C>T Multiple submitters
c.2320-68G>A Multiple submitters
c.2320-8C>T Multiple submitters
c.2468+18C>T Multiple submitters
c.2468+19G>A Multiple submitters colorectal cancer, susceptibility to, 12
c.2469-242G>A Multiple submitters
c.2561+14G>A Multiple submitters
c.2561+16G>A Multiple submitters
c.2561+20C>T Multiple submitters
c.2562-20G>C Multiple submitters
c.2706+11G>C Multiple submitters colorectal cancer, susceptibility to, 12
c.2706+19G>A Multiple submitters
c.2707-4T>G Multiple submitters hereditary neoplastic syndrome
c.285+15G>A Multiple submitters Polymerase proofreading-related adenomatous polyposis
c.285+17G>A Multiple submitters
c.285+17G>T Multiple submitters
c.286-14G>C Multiple submitters
c.2864+8T>C Multiple submitters
c.2864+9C>T Multiple submitters
c.2865-4T>C Multiple submitters hereditary neoplastic syndrome
c.2865-8T>C Multiple submitters
c.3060+16C>T Multiple submitters
c.3060+20C>G Multiple submitters
c.3061-10C>G Multiple submitters
c.3061-15A>G Multiple submitters
c.3061-293C>T Multiple submitters
c.3061-4C>T Multiple submitters hereditary neoplastic syndrome
c.3275+14C>G Multiple submitters colorectal cancer, susceptibility to, 12
c.3275+14C>T Multiple submitters
c.3275+38_3275+88del Multiple submitters colorectal cancer, susceptibility to, 12
c.3276-197G>A Multiple submitters
c.3276-315G>A Multiple submitters
c.3276-4C>T Multiple submitters
c.330+13C>G Multiple submitters
c.330+15T>C Multiple submitters POLE-related polyposis and colorectal cancer syndrome
c.3378+11G>C Multiple submitters
c.3379-12C>T Multiple submitters Polymerase proofreading-related adenomatous polyposis
c.3379-17G>A Multiple submitters colorectal cancer, susceptibility to, 12
c.3459+13T>G Multiple submitters
c.3459+22C>T Multiple submitters
c.3460-4A>G Multiple submitters hereditary neoplastic syndrome
c.3582+12G>A Multiple submitters
c.3582+15C>A Multiple submitters Polymerase proofreading-related adenomatous polyposis
c.3582+16_3582+17inv Multiple submitters
c.3582+20G>T Multiple submitters
c.3582+34G>A Multiple submitters colorectal cancer, susceptibility to, 12
c.3582+9G>A Multiple submitters
c.3583-12dup Multiple submitters
c.3583-448C>T Multiple submitters
c.3583-4C>G Multiple submitters hereditary neoplastic syndrome
c.3795+15T>G Multiple submitters
c.3796-11A>G Multiple submitters
c.3796-20G>A Multiple submitters
c.3796-3del Multiple submitters
c.4005+20G>A Multiple submitters hereditary neoplastic syndrome
c.4005+7A>G Multiple submitters
c.4005+8C>A Multiple submitters
c.4006-15C>T Multiple submitters
c.4006-20A>G Multiple submitters
c.4006-4T>C Multiple submitters hereditary neoplastic syndrome
c.4149+12C>G Multiple submitters familial colorectal cancer type X
c.4149+223C>T Multiple submitters
c.4149+9G>A Multiple submitters familial colorectal cancer type X
c.4150-13G>A Multiple submitters familial colorectal cancer type X
c.4150-16G>T Multiple submitters
c.4150-17C>T Multiple submitters
c.4150-8C>A Multiple submitters POLE-related polyposis and colorectal cancer syndrome
c.423+20T>C Multiple submitters colorectal cancer, susceptibility to, 12
c.424-10C>T Multiple submitters colorectal cancer, susceptibility to, 12
c.424-20G>A Multiple submitters
c.424-20G>T Multiple submitters hereditary neoplastic syndrome
c.424-4A>G Multiple submitters hereditary neoplastic syndrome
c.4290+20C>T Multiple submitters
c.4291-11G>A Multiple submitters colorectal cancer, susceptibility to, 12
c.4291-11G>C Multiple submitters
c.4291-12C>G Multiple submitters
c.4291-12C>T Multiple submitters POLE-related polyposis and colorectal cancer syndrome
c.4291-7C>A Multiple submitters
c.4444+13C>G Multiple submitters hereditary neoplastic syndrome
c.4444+18C>T Multiple submitters
c.4444+19G>A Multiple submitters
c.4444+9T>C Multiple submitters
c.4445-10C>T Multiple submitters
c.4445-19G>A Multiple submitters
c.4445-4C>T Multiple submitters hereditary neoplastic syndrome
c.4551+11G>A Multiple submitters
c.4551+15C>T Multiple submitters
c.4551+18C>T Multiple submitters
c.4551+20T>C Multiple submitters
c.4552-11C>G Multiple submitters
c.4552-11C>T Multiple submitters POLE-related polyposis and colorectal cancer syndrome
c.4552-9T>C Multiple submitters
c.4729-11C>T Multiple submitters Polymerase proofreading-related adenomatous polyposis
c.4729-12G>A Multiple submitters
c.4729-18del Multiple submitters
c.4952+10G>A Multiple submitters POLE-related polyposis and colorectal cancer syndrome
c.4952+11T>A Multiple submitters POLE-related polyposis and colorectal cancer syndrome
c.4952+16T>C Multiple submitters
c.4952+20_4952+22del Multiple submitters colorectal cancer, susceptibility to, 12
c.4952+53C>T Multiple submitters
c.4953-4G>A Multiple submitters hereditary neoplastic syndrome
c.4953-4G>T Multiple submitters hereditary neoplastic syndrome
c.5173+10C>G Multiple submitters
c.5173+10C>T Multiple submitters colorectal cancer, susceptibility to, 12
c.5173+11G>A Multiple submitters hereditary neoplastic syndrome
c.5173+17A>G Multiple submitters colorectal cancer, susceptibility to, 12
c.5173+18C>T Multiple submitters
c.5378+159T>A Multiple submitters
c.5378+9C>G Multiple submitters
c.5379-14A>C Multiple submitters
c.5379-27G>A Multiple submitters
c.5379-7C>T Multiple submitters
c.5552+10C>A Multiple submitters POLE-related polyposis and colorectal cancer syndrome
c.5552+13C>T Multiple submitters POLE-related polyposis and colorectal cancer syndrome
c.5552+14C>T Multiple submitters
c.5553-4A>G Multiple submitters hereditary neoplastic syndrome
c.5553-6C>T Multiple submitters
c.5553-7T>C Multiple submitters POLE-related polyposis and colorectal cancer syndrome
c.579-140T>G Multiple submitters
c.579-15C>G Multiple submitters
c.579-16T>C Multiple submitters hereditary neoplastic syndrome
c.579-18T>C Multiple submitters
c.5811+12G>A Multiple submitters
c.5811+6C>T Multiple submitters
c.5812-10T>C Multiple submitters
c.5812-19G>A Multiple submitters
c.5812-4A>G Multiple submitters hereditary neoplastic syndrome
c.6004+10G>A Multiple submitters
c.6004+165G>T Multiple submitters
c.6004+60T>C Multiple submitters
c.6005-12G>A Multiple submitters
c.6136+20T>A Multiple submitters
c.6137-10A>G Multiple submitters POLE-related polyposis and colorectal cancer syndrome
c.6137-19A>T Multiple submitters
c.6137-4C>T Multiple submitters hereditary neoplastic syndrome
c.6137-7C>T Multiple submitters
c.63-4T>A Multiple submitters hereditary neoplastic syndrome
c.6531+12C>T Multiple submitters
c.6531+15C>T Multiple submitters
c.6531+18C>T Multiple submitters
c.6531+19G>A Multiple submitters
c.6532-10C>G Multiple submitters Polymerase proofreading-related adenomatous polyposis
c.6532-113G>T Multiple submitters
c.6532-11G>C Multiple submitters POLE-related polyposis and colorectal cancer syndrome
c.6532-14C>G Multiple submitters
c.6532-14C>T Multiple submitters
c.6532-19G>T Multiple submitters colorectal cancer, susceptibility to, 12
c.6532-20C>T Multiple submitters
c.6532-4C>T Multiple submitters hereditary neoplastic syndrome
c.6657+8G>A Multiple submitters colorectal cancer, susceptibility to, 10
c.6658-12G>C Multiple submitters colorectal cancer, susceptibility to, 12
c.6658-17G>C Multiple submitters
c.6658-18G>A Multiple submitters
c.6658-19C>T Multiple submitters
c.6658-88G>A Multiple submitters
c.6658-8C>T Multiple submitters
c.6747+11_6747+14del Multiple submitters
c.6748-20G>C Multiple submitters
c.720+16T>C Multiple submitters colorectal cancer, susceptibility to, 12
c.720+20G>A Multiple submitters hereditary neoplastic syndrome
c.720+6T>C Multiple submitters
c.720+9G>A Multiple submitters
c.721-4G>T Multiple submitters POLE-related polyposis and colorectal cancer syndrome
c.801+120T>G Multiple submitters
c.801+18del Multiple submitters
c.801+62C>T Multiple submitters
c.801+8T>A Multiple submitters POLE-related polyposis and colorectal cancer syndrome
c.802-14T>C Multiple submitters colorectal cancer, susceptibility to, 12
c.802-15A>G Multiple submitters colorectal cancer, susceptibility to, 12
c.802-18C>T Multiple submitters colorectal cancer, susceptibility to, 12
c.802-20T>C Multiple submitters colorectal cancer, susceptibility to, 12
c.802-4A>C Multiple submitters colorectal cancer, susceptibility to, 12
c.802-6C>T Multiple submitters colorectal cancer, susceptibility to, 12
c.802-9_802-8dup Multiple submitters colorectal cancer, susceptibility to, 12
c.909+20G>A Multiple submitters colorectal cancer, susceptibility to, 12
c.909+9G>T Multiple submitters colorectal cancer, susceptibility to, 12
c.910-11A>G Multiple submitters colorectal cancer, susceptibility to, 12
c.910-12G>A Multiple submitters colorectal cancer, susceptibility to, 12
c.910-15A>C Multiple submitters colorectal cancer, susceptibility to, 12
c.910-18_910-17delinsTT Multiple submitters colorectal cancer, susceptibility to, 12
c.910-19T>C Multiple submitters colorectal cancer, susceptibility to, 12
c.910-4C>T Multiple submitters colorectal cancer, susceptibility to, 12
p.Ala1061= Multiple submitters hereditary neoplastic syndrome
p.Ala1072= Multiple submitters hereditary neoplastic syndrome
p.Ala1093= Multiple submitters colorectal cancer, susceptibility to, 12
p.Ala1097= Multiple submitters hereditary neoplastic syndrome
p.Ala11= Multiple submitters hereditary neoplastic syndrome
p.Ala1101= Multiple submitters hereditary neoplastic syndrome
p.Ala1140= Multiple submitters hereditary neoplastic syndrome
p.Ala1209= Multiple submitters hereditary neoplastic syndrome
p.Ala1224Ser Multiple submitters hereditary neoplastic syndrome
p.Ala1283= Multiple submitters hereditary neoplastic syndrome
p.Ala1298= Multiple submitters hereditary neoplastic syndrome
p.Ala1323= Multiple submitters hereditary neoplastic syndrome
p.Ala1375= Multiple submitters familial colorectal cancer type X
p.Ala1420= Multiple submitters hereditary neoplastic syndrome
p.Ala1437= Multiple submitters hereditary neoplastic syndrome
p.Ala1460= Multiple submitters hereditary neoplastic syndrome
p.Ala1493= Multiple submitters hereditary neoplastic syndrome
p.Ala1495= Multiple submitters hereditary neoplastic syndrome
p.Ala15= Multiple submitters hereditary neoplastic syndrome
p.Ala1532= Multiple submitters hereditary neoplastic syndrome
p.Ala1557= Multiple submitters hereditary neoplastic syndrome
p.Ala1574= Multiple submitters hereditary neoplastic syndrome
p.Ala1614= Multiple submitters hereditary neoplastic syndrome
p.Ala1629= Multiple submitters hereditary neoplastic syndrome
p.Ala1674= Multiple submitters hereditary neoplastic syndrome
p.Ala1699= Multiple submitters hereditary neoplastic syndrome
p.Ala1712= Multiple submitters hereditary neoplastic syndrome
p.Ala1764= Multiple submitters hereditary neoplastic syndrome
p.Ala1776= Multiple submitters hereditary neoplastic syndrome
p.Ala1786= Multiple submitters hereditary neoplastic syndrome
p.Ala1814= Multiple submitters hereditary neoplastic syndrome
p.Ala186= Multiple submitters hereditary neoplastic syndrome
p.Ala1866= Multiple submitters hereditary neoplastic syndrome
p.Ala1883= Multiple submitters hereditary neoplastic syndrome
p.Ala1885= Multiple submitters hereditary neoplastic syndrome
p.Ala1943= Multiple submitters hereditary neoplastic syndrome
p.Ala1967= Multiple submitters familial colorectal cancer type X

Uncertain significance 5220

Showing the top 300 by review status; the full set is in the sitemap.

c.1020+5G>A Multiple submitters hereditary neoplastic syndrome
c.1106+3G>C Multiple submitters hereditary neoplastic syndrome
c.1106+4A>G Multiple submitters hereditary neoplastic syndrome
c.1107-6A>G Multiple submitters
c.1226+3A>G Multiple submitters hereditary neoplastic syndrome
c.1359+4_1359+74del Multiple submitters hereditary neoplastic syndrome
c.1359+4C>A Multiple submitters hereditary neoplastic syndrome
c.1474-3C>G Multiple submitters hereditary neoplastic syndrome
c.1794+3A>G Multiple submitters hereditary neoplastic syndrome
c.1794+4A>C Multiple submitters hereditary neoplastic syndrome
c.1923+4A>G Multiple submitters hereditary neoplastic syndrome
c.2026+1G>C Multiple submitters hereditary neoplastic syndrome
c.204+3A>G Multiple submitters hereditary neoplastic syndrome
c.206_211delCCGAGA Multiple submitters hereditary neoplastic syndrome
c.2319+5G>T Multiple submitters hereditary neoplastic syndrome
c.2468+4G>A Multiple submitters hereditary neoplastic syndrome
c.2561+5G>A Multiple submitters hereditary neoplastic syndrome
c.2562-3A>G Multiple submitters
c.2707-3C>G Multiple submitters hereditary neoplastic syndrome
c.2707-3C>T Multiple submitters hereditary neoplastic syndrome
c.3276-3C>T Multiple submitters hereditary neoplastic syndrome
c.330+3G>T Multiple submitters hereditary neoplastic syndrome
c.331-3T>G Multiple submitters hereditary neoplastic syndrome
c.3378+4A>T Multiple submitters hereditary neoplastic syndrome
c.3379-3C>A Multiple submitters hereditary neoplastic syndrome
c.3459+4del Multiple submitters hereditary neoplastic syndrome
c.3460-5C>G Multiple submitters hereditary neoplastic syndrome
c.3583-3C>G Multiple submitters hereditary neoplastic syndrome
c.4149+1G>A Multiple submitters hereditary neoplastic syndrome
c.4149+3A>C Multiple submitters hereditary neoplastic syndrome
c.4150-3C>T Multiple submitters hereditary neoplastic syndrome
c.424-3T>C Multiple submitters hereditary neoplastic syndrome
c.4728+4A>T Multiple submitters hereditary neoplastic syndrome
c.4729-3C>T Multiple submitters hereditary neoplastic syndrome
c.4953-3C>T Multiple submitters hereditary neoplastic syndrome
c.4953-5T>G Multiple submitters hereditary neoplastic syndrome
c.5173+4A>G Multiple submitters hereditary neoplastic syndrome
c.5174-3C>T Multiple submitters hereditary neoplastic syndrome
c.5378+4C>T Multiple submitters facial dysmorphism-immunodeficiency-livedo-short stature syndrome
c.5378+5C>T Multiple submitters hereditary neoplastic syndrome
c.5379-3C>G Multiple submitters hereditary neoplastic syndrome
c.5552+3G>A Multiple submitters hereditary neoplastic syndrome
c.5552+3G>C Multiple submitters hereditary neoplastic syndrome
c.5552+5G>A Multiple submitters
c.5553-13A>G Multiple submitters
c.5678+5G>A Multiple submitters hereditary neoplastic syndrome
c.578+3A>G Multiple submitters hereditary neoplastic syndrome
c.5812-3C>G Multiple submitters hereditary neoplastic syndrome
c.6004+3A>T Multiple submitters hereditary neoplastic syndrome
c.6136+5G>A Multiple submitters hereditary neoplastic syndrome
c.62+5G>A Multiple submitters hereditary neoplastic syndrome
c.6330+3G>A Multiple submitters hereditary neoplastic syndrome
c.6331-3C>T Multiple submitters hereditary neoplastic syndrome
c.6531+4_6531+10delinsAGAAGG Multiple submitters hereditary neoplastic syndrome
c.6657+3G>T Multiple submitters hereditary neoplastic syndrome
c.6657+4A>C Multiple submitters hereditary neoplastic syndrome
c.6658-3C>T Multiple submitters hereditary neoplastic syndrome
c.6747+5G>A Multiple submitters hereditary neoplastic syndrome
c.6748-3C>T Multiple submitters hereditary neoplastic syndrome
c.720+4A>C Multiple submitters hereditary neoplastic syndrome
c.720+4A>T Multiple submitters hereditary neoplastic syndrome
c.720+5G>A Multiple submitters hereditary neoplastic syndrome
c.801+1G>A Multiple submitters hereditary neoplastic syndrome
c.801+3A>G Multiple submitters hereditary neoplastic syndrome
c.802-2dup Multiple submitters hereditary neoplastic syndrome
c.802-7_818dup Multiple submitters hereditary neoplastic syndrome
c.909+5G>A Multiple submitters hereditary neoplastic syndrome
p.Ala1007Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1007Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1021Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1022Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1072Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1072Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala107Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala107Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1093Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1093Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1097Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1097Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1097Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1126Thr Multiple submitters ⚠
p.Ala1149Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1149Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1149Val Multiple submitters facial dysmorphism-immunodeficiency-livedo-short stature syndrome ⚠
p.Ala1150Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1198Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala11Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1209Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1224Leu Multiple submitters colorectal cancer, susceptibility to, 12
p.Ala1225dup Multiple submitters hereditary neoplastic syndrome
p.Ala1225Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1225Val Multiple submitters ⚠
p.Ala1283Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1283Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1288_Leu1295del Multiple submitters hereditary neoplastic syndrome
p.Ala1288Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1298Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala129Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1306Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1312Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1323Val Multiple submitters intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency ⚠
p.Ala1349Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1349Val Multiple submitters colorectal cancer, susceptibility to, 12 ⚠
p.Ala1373Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1375Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1493Thr Multiple submitters colorectal cancer, susceptibility to, 12 ⚠
p.Ala1495Val Multiple submitters ⚠
p.Ala1498Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1528Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1528Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1532Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1532Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1567Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1574Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1586Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1586Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1586Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1597Thr Multiple submitters facial dysmorphism-immunodeficiency-livedo-short stature syndrome ⚠
p.Ala1614Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1629Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1629Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1646Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1674Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1674Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1690Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1690Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1699Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1699Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1735Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1735Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1751Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1764Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1764Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1776Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1776Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1780Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1786Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1814Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1836Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1854Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1854Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1866Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1866Thr Multiple submitters familial colorectal cancer type X ⚠
p.Ala1883Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1885Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1885Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1885Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1885Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala189Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1943Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1989Gly Multiple submitters ⚠
p.Ala1989Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1989Thr Multiple submitters ⚠
p.Ala1989Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1990Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala19Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala2002Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala2006Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala2006Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala2030Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala2037Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala2040Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala2043Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala2056Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala2056Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala2101Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala2101Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala2142Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala2192Gly Multiple submitters ⚠
p.Ala2198Val Multiple submitters ⚠
p.Ala2213Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala2239Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala2239Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala2239Val Multiple submitters colorectal cancer, susceptibility to, 12 ⚠
p.Ala2243Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala2262Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala241Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala241Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala252Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala25Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala25Ser Multiple submitters facial dysmorphism-immunodeficiency-livedo-short stature syndrome ⚠
p.Ala25Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala288Gly Multiple submitters colorectal cancer, susceptibility to, 12 ⚠
p.Ala288Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala288Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala31Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala341Pro Multiple submitters colorectal cancer, susceptibility to, 12 ⚠
p.Ala374Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala377Thr Multiple submitters colorectal cancer, susceptibility to, 12 ⚠
p.Ala399Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala426Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala426Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala427Val Multiple submitters colorectal cancer, susceptibility to, 12 ⚠
p.Ala463Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala465Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala465Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala465Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala480Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala480Val Multiple submitters colorectal cancer, susceptibility to, 12 ⚠
p.Ala503Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala503Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala565Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala565Ser Multiple submitters intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency ⚠
p.Ala565Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala566Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala566Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala566Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala581Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala581Ser Multiple submitters intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency ⚠
p.Ala581Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala581Val Multiple submitters ⚠
p.Ala608Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala629Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala653Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala653Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala668Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala704Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala716Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala716Ser Multiple submitters ⚠
p.Ala716Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala716Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala760Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala760Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala781Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala781Ser Multiple submitters ⚠
p.Ala782del Multiple submitters hereditary neoplastic syndrome
p.Ala782Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala782Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala788Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala788Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala788Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala789Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala81Thr Multiple submitters colorectal cancer, susceptibility to, 12 ⚠
p.Ala81Val Multiple submitters facial dysmorphism-immunodeficiency-livedo-short stature syndrome ⚠
p.Ala846Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala846Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala895Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala895Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala939Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala944Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala957Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala966Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala97Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1037Cys Multiple submitters facial dysmorphism-immunodeficiency-livedo-short stature syndrome ⚠
p.Arg1041Gln Multiple submitters facial dysmorphism-immunodeficiency-livedo-short stature syndrome ⚠
p.Arg1041Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1041Trp Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1059Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1059His Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1059Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1077Cys Multiple submitters colorectal cancer, susceptibility to, 12 ⚠
p.Arg1082Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1082Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1092Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1106Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1106Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1111Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1111Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1111Trp Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1125Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1136Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1136Trp Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg114Gln Multiple submitters colorectal cancer, susceptibility to, 12 ⚠
p.Arg1160Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1160His Multiple submitters POLE-related disorder ⚠
p.Arg1160Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1193= Multiple submitters hereditary neoplastic syndrome
p.Arg1231Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1273Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1273Trp Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1284Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1284Trp Multiple submitters facial dysmorphism-immunodeficiency-livedo-short stature syndrome ⚠
p.Arg1286Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1286Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1289Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1289His Multiple submitters Polymerase proofreading-related adenomatous polyposis ⚠
p.Arg1289Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1290Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1303Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1308Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1308Trp Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1320Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1320Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1324Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1324Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1346Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1359Met Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1364Cys Multiple submitters Polymerase proofreading-related adenomatous polyposis ⚠
p.Arg1364His Multiple submitters Polymerase proofreading-related adenomatous polyposis ⚠
p.Arg1371Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1382Cys Multiple submitters facial dysmorphism-immunodeficiency-livedo-short stature syndrome ⚠
p.Arg1382Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1386Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1386Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1386Trp Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1390Cys Multiple submitters facial dysmorphism-immunodeficiency-livedo-short stature syndrome ⚠
p.Arg1436Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1436Trp Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1453Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1471Cys Multiple submitters hereditary neoplastic syndrome ⚠