Sugi Variant

Sugi Variant/POLD1

POLD1 — 5257 ClinVar variants

All ClinVar germline POLD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 2325 flagged for review →

3 Pathogenic · 2 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 430 Conflicting · 78 Benign · 218 Benign/Likely benign · 1697 Likely benign · 2826 Uncertain significance

Full POLD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 2325

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 agree, ClinVar conflicts 224

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification. · showing the 150 best-reviewed of 224

Predictors lean, ClinVar uncertain 1429

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 1429

Predictors split 672

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 672

All POLD1 variants

Pathogenic 3

  • p.Ser605del Multiple submitters hereditary neoplastic syndrome
  • p.Val122fs Single submitter Lipodystrophy - childhood onset
  • p.Arg1050fs No assertion criteria exocrine pancreatic carcinoma

Pathogenic/Likely pathogenic 2

  • p.Leu474Pro Multiple submitters hereditary neoplastic syndrome
  • p.Ser478Asn Multiple submitters hereditary neoplastic syndrome

Likely pathogenic 3

  • p.Arg507Cys Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Ser478Arg Single submitter hereditary neoplastic syndrome
  • p.Ser1073Arg No assertion criteria intellectual disability

Conflicting classifications of pathogenicity 430

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

  • c.1138-11C>A Single submitter POLD1-related polyposis and colorectal cancer syndrome
  • c.1138-3C>A Single submitter immunodeficiency 120
  • c.1138-5C>A Single submitter POLD1-related polyposis and colorectal cancer syndrome
  • c.1138-5C>T Single submitter POLD1-related polyposis and colorectal cancer syndrome
  • c.1138-6C>G Single submitter POLD1-related polyposis and colorectal cancer syndrome
  • c.1138-8del Single submitter POLD1-related polyposis and colorectal cancer syndrome
  • c.1242+3G>A Single submitter hereditary neoplastic syndrome
  • c.1243-11C>T Single submitter POLD1-related polyposis and colorectal cancer syndrome
  • c.1243-11CTC[2] Single submitter immunodeficiency 120
  • c.1243-20A>G Single submitter POLD1-related polyposis and colorectal cancer syndrome
  • c.1383+4del Single submitter POLD1-related polyposis and colorectal cancer syndrome
  • c.1383+4T>A Single submitter hereditary neoplastic syndrome
  • c.1384-13C>G Single submitter hereditary neoplastic syndrome
  • c.1384-14A>C Single submitter hereditary neoplastic syndrome
  • c.1384-17C>G Single submitter hereditary neoplastic syndrome
  • c.1384-19_1384-12del Single submitter POLD1-related polyposis and colorectal cancer syndrome
  • c.1384-3T>C Single submitter POLD1-related polyposis and colorectal cancer syndrome
  • c.1384-7C>G Single submitter POLD1-related polyposis and colorectal cancer syndrome
  • c.1494+10G>A Single submitter hereditary neoplastic syndrome
  • c.1494+3G>A Single submitter POLD1-related polyposis and colorectal cancer syndrome
  • c.1494+5C>T Single submitter hereditary neoplastic syndrome
  • c.1495-15_1495-14delinsGA Single submitter POLD1-related polyposis and colorectal cancer syndrome
  • c.1495-3C>T Single submitter hereditary neoplastic syndrome
  • c.1495-4C>T Single submitter POLD1-related polyposis and colorectal cancer syndrome
  • c.1687-3C>A Single submitter hereditary neoplastic syndrome
  • c.1687-5C>T Single submitter POLD1-related polyposis and colorectal cancer syndrome
  • c.1776-17G>A Single submitter POLD1-related polyposis and colorectal cancer syndrome
  • c.1776-32C>G Single submitter POLD1-related disorder
  • c.1776-4C>T Single submitter POLD1-related polyposis and colorectal cancer syndrome
  • c.1776-5C>T Single submitter POLD1-related polyposis and colorectal cancer syndrome
  • c.1892+5A>G Single submitter POLD1-related polyposis and colorectal cancer syndrome
  • c.2006+15T>C Single submitter POLD1-related polyposis and colorectal cancer syndrome
  • c.2006+17G>A Single submitter hereditary neoplastic syndrome
  • c.202+3A>G Single submitter hereditary neoplastic syndrome
  • c.202+6G>T Single submitter POLD1-related polyposis and colorectal cancer syndrome
  • c.203-14C>T Single submitter POLD1-related polyposis and colorectal cancer syndrome
  • c.2154+4G>A Single submitter hereditary neoplastic syndrome
  • c.2155-5G>A Single submitter hereditary neoplastic syndrome
  • c.2250+3C>T Single submitter hereditary neoplastic syndrome
  • c.2250+4G>A Single submitter Polymerase proofreading-related adenomatous polyposis
  • c.2250+5G>C Single submitter hereditary neoplastic syndrome
  • c.2250+7G>A Single submitter POLD1-related polyposis and colorectal cancer syndrome
  • c.2251-5C>T Single submitter hereditary neoplastic syndrome
  • c.2388+3G>A Single submitter POLD1-related polyposis and colorectal cancer syndrome
  • c.2388+4C>T Single submitter hereditary neoplastic syndrome
  • c.2388+5G>A Single submitter hereditary neoplastic syndrome
  • c.2565-13C>T Single submitter hereditary neoplastic syndrome
  • c.2565-17G>A Single submitter POLD1-related polyposis and colorectal cancer syndrome
  • c.2565-5T>C Single submitter hereditary neoplastic syndrome
  • c.2565-7C>T Single submitter POLD1-related polyposis and colorectal cancer syndrome
  • c.2717+11G>A Single submitter POLD1-related polyposis and colorectal cancer syndrome
  • c.2717+12_2717+13del Single submitter POLD1-related polyposis and colorectal cancer syndrome
  • c.2717+14C>T Single submitter POLD1-related polyposis and colorectal cancer syndrome
  • c.2717+15G>A Single submitter POLD1-related polyposis and colorectal cancer syndrome
  • c.2717+4C>T Single submitter POLD1-related polyposis and colorectal cancer syndrome
  • c.2717+7C>T Single submitter POLD1-related polyposis and colorectal cancer syndrome
  • c.2717+9C>A Single submitter POLD1-related polyposis and colorectal cancer syndrome
  • c.2820+3C>T Single submitter hereditary neoplastic syndrome
  • c.2821-5C>T Single submitter hereditary neoplastic syndrome
  • c.2953+4C>T Single submitter hereditary neoplastic syndrome
  • c.3068-14C>T Single submitter hereditary neoplastic syndrome
  • c.3068-4A>C Single submitter hereditary neoplastic syndrome
  • c.3068-5C>A Single submitter POLD1-related polyposis and colorectal cancer syndrome
  • c.3068-5C>T Single submitter POLD1-related polyposis and colorectal cancer syndrome
  • c.3120+6_3120+21del Single submitter POLD1-related polyposis and colorectal cancer syndrome
  • c.3120+6A>G Single submitter POLD1-related polyposis and colorectal cancer syndrome
  • c.3121-12T>C Single submitter POLD1-related polyposis and colorectal cancer syndrome
  • c.3121-14G>A Single submitter hereditary neoplastic syndrome
  • c.3121-3C>T Single submitter hereditary neoplastic syndrome
  • c.317-16C>T Single submitter hereditary neoplastic syndrome
  • c.317-5C>T Single submitter hereditary neoplastic syndrome
  • c.3218+5G>A Single submitter hereditary neoplastic syndrome
  • c.3219-11C>G Single submitter POLD1-related polyposis and colorectal cancer syndrome
  • c.3219-19C>A Single submitter POLD1-related polyposis and colorectal cancer syndrome
  • c.3219-4G>A Single submitter hereditary neoplastic syndrome
  • c.3219-5C>T Single submitter POLD1-related polyposis and colorectal cancer syndrome
  • c.3219-8A>C Single submitter POLD1-related polyposis and colorectal cancer syndrome
  • c.463+6T>G Single submitter POLD1-related polyposis and colorectal cancer syndrome
  • c.590-6C>G Single submitter POLD1-related polyposis and colorectal cancer syndrome
  • c.758+4C>G Single submitter POLD1-related polyposis and colorectal cancer syndrome
  • c.758+4C>T Single submitter hereditary neoplastic syndrome
  • c.758+5G>A Single submitter hereditary neoplastic syndrome
  • c.759-14_759-13delinsAT Single submitter POLD1-related polyposis and colorectal cancer syndrome
  • c.759-6C>T Single submitter POLD1-related polyposis and colorectal cancer syndrome
  • c.840+10T>C Single submitter POLD1-related polyposis and colorectal cancer syndrome
  • c.840+3G>T Single submitter hereditary neoplastic syndrome
  • c.841-5C>T Single submitter hereditary neoplastic syndrome
  • c.971-4G>T Single submitter hereditary neoplastic syndrome
  • c.971-5C>G Single submitter hereditary neoplastic syndrome
  • c.971-5C>T Single submitter hereditary neoplastic syndrome
  • c.-1-5A>T Single submitter hereditary neoplastic syndrome
  • p.Ala1006Thr Single submitter Polymerase proofreading-related adenomatous polyposis ⚠
  • p.Ala1046Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala1106Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala152Val Single submitter Hereditary cancer ⚠
  • p.Ala189Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala215Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala242Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala274Thr Single submitter mandibular hypoplasia-deafness-progeroid syndrome ⚠
  • p.Ala274Val Single submitter POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Ala288Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala288Val Single submitter POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Ala354Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala425Ser Single submitter POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Ala532Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala599Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala66Gly Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala675Ser Single submitter POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Ala773Thr Single submitter POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Ala773Val Single submitter POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Ala778Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala810Val Single submitter mandibular hypoplasia-deafness-progeroid syndrome ⚠
  • p.Ala820Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala846Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala864Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala86Pro Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala86Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala890Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala963Val Single submitter POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Arg1008His Single submitter POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Arg1009His Single submitter mandibular hypoplasia-deafness-progeroid syndrome ⚠
  • p.Arg1016His Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg1032Gln Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg1050Cys Single submitter POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Arg1050His Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg1082Cys Single submitter combined immunodeficiency ⚠
  • p.Arg1086Gln Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg1086Trp Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg1097Gln Single submitter Polymerase proofreading-related adenomatous polyposis ⚠
  • p.Arg1098Cys Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg119Cys Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg166Gln Single submitter mandibular hypoplasia-deafness-progeroid syndrome ⚠
  • p.Arg174Gln Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg174Trp Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg177His Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg17Gln Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg17Leu Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg17Trp Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg180= Single submitter hereditary neoplastic syndrome
  • p.Arg195Gln Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg195Ter Single submitter immunodeficiency 120
  • p.Arg19Cys Single submitter POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Arg19Leu Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg211His Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg218His Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg224His Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg225His Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg232Cys Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg232His Single submitter POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Arg306His Single submitter POLD1-related disorder ⚠
  • p.Arg30Gln Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg331Gln Single submitter mandibular hypoplasia-deafness-progeroid syndrome ⚠
  • p.Arg352His Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg358Trp Single submitter immunodeficiency 120 ⚠
  • p.Arg386His Single submitter POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Arg432Gln Single submitter mandibular hypoplasia-deafness-progeroid syndrome ⚠
  • p.Arg432Gly Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg521Gln Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg525Gln Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg5Gln Single submitter mandibular hypoplasia-deafness-progeroid syndrome ⚠
  • p.Arg5Trp Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg623Gln Single submitter POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Arg623Trp Single submitter POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Arg669Lys Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg689= Single submitter hereditary neoplastic syndrome
  • p.Arg6Gln Single submitter colorectal cancer ⚠
  • p.Arg6Pro Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg6Trp Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg762= Single submitter POLD1-related polyposis and colorectal cancer syndrome
  • p.Arg762Gln Single submitter familial colorectal cancer type X ⚠
  • p.Arg776Gln Single submitter mandibular hypoplasia-deafness-progeroid syndrome ⚠
  • p.Arg78Cys Single submitter mandibular hypoplasia-deafness-progeroid syndrome ⚠
  • p.Arg78His Single submitter mandibular hypoplasia-deafness-progeroid syndrome ⚠
  • p.Arg791Gln Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg823Cys Single submitter mandibular hypoplasia-deafness-progeroid syndrome ⚠
  • p.Arg823His Single submitter POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Arg823Leu Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg849Cys Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg849Leu Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg850His Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg850Leu Single submitter POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Arg855Gly Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg906= Single submitter POLD1-related polyposis and colorectal cancer syndrome
  • p.Arg978Gly Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg985Gln Single submitter hereditary neoplastic syndrome ⚠
  • p.Asn1010Ser Single submitter POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Asn247Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Asn662Lys Single submitter hereditary neoplastic syndrome ⚠
  • p.Asn743Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Asp1091Asn Single submitter mandibular hypoplasia-deafness-progeroid syndrome ⚠
  • p.Asp163Tyr Single submitter hereditary neoplastic syndrome ⚠
  • p.Asp175= Single submitter POLD1-related polyposis and colorectal cancer syndrome
  • p.Asp259Glu Single submitter hereditary neoplastic syndrome ⚠
  • p.Asp25Asn Single submitter hereditary neoplastic syndrome ⚠
  • p.Asp26His Single submitter hereditary neoplastic syndrome ⚠
  • p.Asp27Gly Single submitter hereditary neoplastic syndrome ⚠
  • p.Asp27Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Asp376Glu Single submitter hereditary neoplastic syndrome ⚠
  • p.Asp376Gly Single submitter POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Asp402Asn Single submitter hereditary neoplastic syndrome ⚠
  • p.Asp502Asn Single submitter POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Asp780Asn Single submitter hereditary neoplastic syndrome ⚠
  • p.Asp822Asn Single submitter hereditary neoplastic syndrome
  • p.Asp835= Single submitter hereditary neoplastic syndrome
  • p.Asp854= Single submitter hereditary neoplastic syndrome
  • p.Asp854Asn Single submitter POLD1-related disorder ⚠
  • p.Asp877Asn Single submitter hereditary neoplastic syndrome ⚠
  • p.Asp88Asn Single submitter hereditary neoplastic syndrome ⚠
  • p.Asp893Asn Single submitter POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Asp893Gly Single submitter hereditary neoplastic syndrome ⚠
  • p.Asp911Asn Single submitter hereditary neoplastic syndrome
  • p.Cys1015= Single submitter hereditary neoplastic syndrome
  • p.Cys139= Single submitter hereditary neoplastic syndrome
  • p.Cys873= Single submitter hereditary neoplastic syndrome
  • p.Gln1062Arg Single submitter mandibular hypoplasia-deafness-progeroid syndrome ⚠
  • p.Gln1092Arg Single submitter POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Gln109Glu Single submitter POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Gln109His Single submitter hereditary neoplastic syndrome ⚠
  • p.Gln229Arg Single submitter hereditary neoplastic syndrome ⚠
  • p.Gln229Glu Single submitter hereditary neoplastic syndrome ⚠
  • p.Gln33= Single submitter hereditary neoplastic syndrome
  • p.Gln369His Single submitter hereditary neoplastic syndrome ⚠
  • p.Gln411His Single submitter POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Gln490= Single submitter hereditary neoplastic syndrome
  • p.Gln628Arg Single submitter POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Gln684His Single submitter Hereditary cancer ⚠
  • p.Gln733Glu Single submitter mandibular hypoplasia-deafness-progeroid syndrome ⚠
  • p.Gln865Arg Single submitter hereditary neoplastic syndrome ⚠
  • p.Gln90Leu Single submitter hereditary neoplastic syndrome ⚠
  • p.Glu1027Lys Single submitter POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Glu1035Gln Single submitter POLD1-related disorder ⚠
  • p.Glu1067Lys Single submitter hereditary neoplastic syndrome ⚠
  • p.Glu1105Gly Single submitter hereditary neoplastic syndrome ⚠
  • p.Glu1105Val Single submitter POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Glu159Lys Single submitter hereditary neoplastic syndrome ⚠
  • p.Glu196= Single submitter hereditary neoplastic syndrome
  • p.Glu372Gly Single submitter hereditary neoplastic syndrome ⚠
  • p.Glu372Lys Single submitter mandibular hypoplasia-deafness-progeroid syndrome ⚠
  • p.Glu375Lys Single submitter hereditary neoplastic syndrome ⚠
  • p.Glu43= Single submitter POLD1-related polyposis and colorectal cancer syndrome
  • p.Glu54Lys Single submitter hereditary neoplastic syndrome ⚠
  • p.Glu566Lys Single submitter familial colorectal cancer type X ⚠
  • p.Glu634Ala Single submitter POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Glu63Asp Single submitter hereditary neoplastic syndrome ⚠
  • p.Glu63Lys Single submitter hereditary neoplastic syndrome ⚠
  • p.Glu645Gly Single submitter POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Glu645Lys Single submitter mandibular hypoplasia-deafness-progeroid syndrome ⚠
  • p.Glu673Lys Single submitter immunodeficiency 120 ⚠
  • p.Glu729Lys Single submitter hereditary neoplastic syndrome ⚠
  • p.Glu742Gln Single submitter hereditary neoplastic syndrome ⚠
  • p.Glu905Gln Single submitter hereditary neoplastic syndrome ⚠
  • p.Glu971Gln Single submitter hereditary neoplastic syndrome ⚠
  • p.Glu980Asp Single submitter hereditary neoplastic syndrome ⚠
  • p.Glu980Lys Single submitter POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Gly1023Arg Single submitter hereditary neoplastic syndrome ⚠
  • p.Gly10Val Single submitter POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Gly1103Glu Single submitter POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Gly120Arg Single submitter POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Gly12Arg Single submitter mandibular hypoplasia-deafness-progeroid syndrome ⚠
  • p.Gly12Glu Single submitter POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Gly157Arg Single submitter hereditary neoplastic syndrome ⚠
  • p.Gly162Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Gly178Arg Single submitter hereditary neoplastic syndrome ⚠
  • p.Gly178Trp Single submitter hereditary neoplastic syndrome ⚠
  • p.Gly205Asp Single submitter hereditary neoplastic syndrome ⚠
  • p.Gly205Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Gly20Ala Single submitter hereditary neoplastic syndrome ⚠
  • p.Gly20Arg Single submitter POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Gly235Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Gly271Arg Single submitter POLD1-related polyposis and colorectal cancer syndrome
  • p.Gly321Ser Single submitter mandibular hypoplasia-deafness-progeroid syndrome ⚠
  • p.Gly426Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Gly483= Single submitter hereditary neoplastic syndrome
  • p.Gly567Glu Single submitter hereditary neoplastic syndrome ⚠
  • p.Gly578Ser Single submitter POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Gly68Glu Single submitter POLD1-related disorder ⚠
  • p.Gly702= Single submitter hereditary neoplastic syndrome
  • p.Gly744= Single submitter POLD1-related polyposis and colorectal cancer syndrome
  • p.Gly764= Single submitter hereditary neoplastic syndrome
  • p.Gly784Asp Single submitter POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Gly932Arg Single submitter hereditary neoplastic syndrome ⚠
  • p.Gly997Ser Single submitter mandibular hypoplasia-deafness-progeroid syndrome ⚠
  • p.His1021Pro Single submitter hereditary neoplastic syndrome ⚠
  • p.His142Gln Single submitter POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.His160Tyr Single submitter POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.His298Arg Single submitter hereditary neoplastic syndrome ⚠
  • p.His48Arg Single submitter hereditary neoplastic syndrome ⚠
  • p.His565Pro Single submitter hereditary neoplastic syndrome ⚠
  • p.His565Tyr Single submitter hereditary neoplastic syndrome ⚠
  • p.Ile260Met Single submitter hereditary neoplastic syndrome ⚠
  • p.Ile260Val Single submitter immunodeficiency 120 ⚠
  • p.Ile307Met Single submitter hereditary neoplastic syndrome ⚠
  • p.Ile325Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ile385Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ile393Leu Single submitter hereditary neoplastic syndrome ⚠
  • p.Ile393Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ile407Val Single submitter POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Ile431Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ile75Thr Single submitter Hereditary cancer ⚠
  • p.Ile75Val Single submitter mandibular hypoplasia-deafness-progeroid syndrome ⚠

Benign 78

Benign/Likely benign 218

  • c.1137+16C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1137+34G>A Multiple submitters
  • c.1138-14G>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1138-8A>G Multiple submitters hereditary neoplastic syndrome
  • c.1243-14C>G Multiple submitters hereditary neoplastic syndrome
  • c.1243-15G>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1383+8C>T Multiple submitters hereditary neoplastic syndrome
  • c.1383+9G>A Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1384-35A>G Multiple submitters
  • c.1495-44A>G Multiple submitters hereditary neoplastic syndrome
  • c.1686+47G>A Multiple submitters
  • c.1687-18C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1776-19G>A Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1776-83del Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1776-83dup Multiple submitters
  • c.1893-6A>C Multiple submitters hereditary neoplastic syndrome
  • c.1893-7A>G Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.2006+16C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.2007-14G>A Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.2007-4G>A Multiple submitters hereditary neoplastic syndrome
  • c.2007-5C>T Multiple submitters hereditary neoplastic syndrome
  • c.202+41G>A Multiple submitters
  • c.2155-6C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.2250+33G>A Multiple submitters
  • c.2250+46G>C Multiple submitters
  • c.2251-23A>G Multiple submitters
  • c.2251-8G>A Multiple submitters familial colorectal cancer type X
  • c.2718-4G>A Multiple submitters hereditary neoplastic syndrome
  • c.2718-5C>T Multiple submitters hereditary neoplastic syndrome
  • c.2820+7C>G Multiple submitters hereditary neoplastic syndrome
  • c.2821-48C>G Multiple submitters
  • c.2954-29C>T Multiple submitters
  • c.3067+11del Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.3120+12G>A Multiple submitters hereditary neoplastic syndrome
  • c.3121-15C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.3121-9C>T Multiple submitters mandibular hypoplasia-deafness-progeroid syndrome
  • c.3218+10A>G Multiple submitters familial colorectal cancer type X
  • c.3218+17G>A Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.3218+8C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.3218+9_3218+10inv Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.3218+9C>T Multiple submitters hereditary neoplastic syndrome
  • c.3219-25_3219-20dup Multiple submitters
  • c.463+8_463+9delinsTT Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.463+8G>T Multiple submitters hereditary neoplastic syndrome
  • c.589+31del Multiple submitters
  • c.590-16C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.841-10A>G Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.970+49C>T Multiple submitters
  • c.971-19G>A Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.971-35C>T Multiple submitters
  • c.971-4G>A Multiple submitters hereditary neoplastic syndrome
  • p.Ala108= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Ala145Thr Multiple submitters mandibular hypoplasia-deafness-progeroid syndrome
  • p.Ala215= Multiple submitters immunodeficiency 120
  • p.Ala320= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Ala366= Multiple submitters hereditary neoplastic syndrome
  • p.Ala380= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Ala410= Multiple submitters hereditary neoplastic syndrome
  • p.Ala425= Multiple submitters immunodeficiency 120
  • p.Ala476= Multiple submitters hereditary neoplastic syndrome
  • p.Ala509= Multiple submitters hereditary neoplastic syndrome
  • p.Ala532= Multiple submitters hereditary neoplastic syndrome
  • p.Ala536= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Arg126= Multiple submitters hereditary neoplastic syndrome
  • p.Arg19His Multiple submitters mandibular hypoplasia-deafness-progeroid syndrome ⚠
  • p.Arg30Trp Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Arg311= Multiple submitters mandibular hypoplasia-deafness-progeroid syndrome
  • p.Arg322= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Arg331= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Arg343= Multiple submitters hereditary neoplastic syndrome
  • p.Arg386= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Arg423= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Arg443= Multiple submitters hereditary neoplastic syndrome
  • p.Arg454= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Arg470= Multiple submitters hereditary neoplastic syndrome
  • p.Arg507= Multiple submitters hereditary neoplastic syndrome
  • p.Arg525= Multiple submitters hereditary neoplastic syndrome
  • p.Arg537= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Arg549= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Arg561= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Arg849His Multiple submitters mandibular hypoplasia-deafness-progeroid syndrome
  • p.Asn400= Multiple submitters hereditary neoplastic syndrome
  • p.Asn430= Multiple submitters hereditary neoplastic syndrome
  • p.Asn499= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Asn501= Multiple submitters familial colorectal cancer type X
  • p.Asn531= Multiple submitters hereditary neoplastic syndrome
  • p.Asp1068= Multiple submitters hereditary neoplastic syndrome
  • p.Asp289= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Asp294= Multiple submitters hereditary neoplastic syndrome
  • p.Asp332= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Asp433= Multiple submitters hereditary neoplastic syndrome
  • p.Asp458= Multiple submitters hereditary neoplastic syndrome
  • p.Asp488= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Asp502= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Asp595= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Asp644= Multiple submitters hereditary neoplastic syndrome
  • p.Asp644Glu Multiple submitters hereditary neoplastic syndrome
  • p.Cys284= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Cys319= Multiple submitters hereditary neoplastic syndrome
  • p.Cys428= Multiple submitters hereditary neoplastic syndrome
  • p.Gln283His Multiple submitters hereditary neoplastic syndrome
  • p.Gln305= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Gln336= Multiple submitters hereditary neoplastic syndrome
  • p.Gln369= Multiple submitters hereditary neoplastic syndrome
  • p.Gln551= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Glu318= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Glu330= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Glu346= Multiple submitters hereditary neoplastic syndrome
  • p.Glu372= Multiple submitters hereditary neoplastic syndrome
  • p.Glu374= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Glu466= Multiple submitters hereditary neoplastic syndrome
  • p.Glu484= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Glu487= Multiple submitters hereditary neoplastic syndrome
  • p.Glu524= Multiple submitters hereditary neoplastic syndrome
  • p.Gly178= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Gly302= Multiple submitters hereditary neoplastic syndrome
  • p.Gly321= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Gly341= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Gly365= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Gly395= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Gly442= Multiple submitters hereditary neoplastic syndrome
  • p.Gly540= Multiple submitters immunodeficiency 120
  • p.Gly550= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Gly577= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Gly859= Multiple submitters hereditary neoplastic syndrome
  • p.His1066= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.His202= Multiple submitters hereditary neoplastic syndrome
  • p.His204= Multiple submitters hereditary neoplastic syndrome
  • p.His298= Multiple submitters hereditary neoplastic syndrome
  • p.His480= Multiple submitters hereditary neoplastic syndrome
  • p.His491= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.His900= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Ile325= Multiple submitters hereditary neoplastic syndrome
  • p.Ile337= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Ile363= Multiple submitters hereditary neoplastic syndrome
  • p.Ile393= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Ile659= Multiple submitters hereditary neoplastic syndrome
  • p.Leu291= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Leu313= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Leu351= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Leu355= Multiple submitters hereditary neoplastic syndrome
  • p.Leu364= Multiple submitters hereditary neoplastic syndrome
  • p.Leu377= Multiple submitters hereditary neoplastic syndrome
  • p.Leu413= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Leu460= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Leu474= Multiple submitters hereditary neoplastic syndrome
  • p.Leu482= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Leu497= Multiple submitters hereditary neoplastic syndrome
  • p.Leu508= Multiple submitters hereditary neoplastic syndrome
  • p.Leu518= Multiple submitters hereditary neoplastic syndrome
  • p.Leu520= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Leu522= Multiple submitters hereditary neoplastic syndrome
  • p.Leu526= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Leu529= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Leu546= Multiple submitters hereditary neoplastic syndrome
  • p.Leu547= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Leu559= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Lys367= Multiple submitters hereditary neoplastic syndrome
  • p.Lys373= Multiple submitters hereditary neoplastic syndrome
  • p.Lys468= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Lys486= Multiple submitters hereditary neoplastic syndrome
  • p.Lys514= Multiple submitters hereditary neoplastic syndrome
  • p.Lys554= Multiple submitters hereditary neoplastic syndrome
  • p.Phe1005= Multiple submitters immunodeficiency 120
  • p.Phe315= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Phe326= Multiple submitters hereditary neoplastic syndrome
  • p.Phe34= Multiple submitters hereditary neoplastic syndrome
  • p.Phe401= Multiple submitters hereditary neoplastic syndrome
  • p.Phe418= Multiple submitters hereditary neoplastic syndrome
  • p.Phe420= Multiple submitters hereditary neoplastic syndrome
  • p.Phe481= Multiple submitters hereditary neoplastic syndrome
  • p.Phe944= Multiple submitters immunodeficiency 120
  • p.Pro217= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Pro299= Multiple submitters hereditary neoplastic syndrome
  • p.Pro300= Multiple submitters hereditary neoplastic syndrome
  • p.Pro303= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Pro347= Multiple submitters Polymerase proofreading-related adenomatous polyposis
  • p.Pro362= Multiple submitters hereditary neoplastic syndrome
  • p.Pro404= Multiple submitters hereditary neoplastic syndrome
  • p.Pro542= Multiple submitters hereditary neoplastic syndrome
  • p.Pro712= Multiple submitters hereditary neoplastic syndrome
  • p.Ser194Cys Multiple submitters hereditary neoplastic syndrome
  • p.Ser293= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Ser314= Multiple submitters hereditary neoplastic syndrome
  • p.Ser450= Multiple submitters hereditary neoplastic syndrome
  • p.Ser471= Multiple submitters hereditary neoplastic syndrome
  • p.Ser478= Multiple submitters hereditary neoplastic syndrome
  • p.Ser492= Multiple submitters hereditary neoplastic syndrome
  • p.Ser719= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Thr213= Multiple submitters hereditary neoplastic syndrome
  • p.Thr282= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Thr383= Multiple submitters hereditary neoplastic syndrome
  • p.Thr394= Multiple submitters hereditary neoplastic syndrome
  • p.Thr441= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Thr446= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Thr473= Multiple submitters hereditary neoplastic syndrome
  • p.Thr495= Multiple submitters hereditary neoplastic syndrome
  • p.Thr721= Multiple submitters hereditary neoplastic syndrome
  • p.Thr993= Multiple submitters familial colorectal cancer type X
  • p.Tyr371= Multiple submitters hereditary neoplastic syndrome
  • p.Tyr396= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Tyr405= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Tyr467= Multiple submitters hereditary neoplastic syndrome
  • p.Tyr511= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Tyr517= Multiple submitters hereditary neoplastic syndrome
  • p.Tyr545= Multiple submitters hereditary neoplastic syndrome
  • p.Tyr701= Multiple submitters hereditary neoplastic syndrome
  • p.Val295= Multiple submitters hereditary neoplastic syndrome
  • p.Val334= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Val392= Multiple submitters hereditary neoplastic syndrome
  • p.Val415= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Val455= Multiple submitters hereditary neoplastic syndrome
  • p.Val462= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Val530= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Val538= Multiple submitters hereditary neoplastic syndrome
  • p.Val541= Multiple submitters hereditary neoplastic syndrome
  • p.Val553= Multiple submitters hereditary neoplastic syndrome
  • p.Val555= Multiple submitters hereditary neoplastic syndrome

Likely benign 1697

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

  • c.1137+10G>A Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1137+11C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1137+13C>T Multiple submitters familial colorectal cancer type X
  • c.1137+14C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1137+7C>G Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1137+84G>A Multiple submitters
  • c.1137+9C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1138-11C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1138-14G>A Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1138-3C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1138-4C>G Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1138-4C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1138-6C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1138-7C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1138-9C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1242+10G>C Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1242+11G>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1242+7G>A Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1242+7G>C Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1242+8C>G Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1243-10T>C Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1243-110C>T Multiple submitters
  • c.1243-12dup Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1243-13C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1243-14C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1243-15G>A Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1243-16T>C Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1243-6C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1243-7T>A Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1243-7T>C Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1243-9C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1383+13G>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1383+18G>A Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1383+8C>G Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1383+9G>C Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1384-10A>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1384-10del Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1384-12C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1384-13_1384-11dup Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1384-15C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1384-16C>G Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1384-17CCCA[4] Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1384-18G>A Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1384-8C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1384-9C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1494+118T>A Multiple submitters
  • c.1494+7G>C Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1494+7G>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1494+9T>C Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1495-12G>A Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1495-14G>A Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1495-14G>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1495-15C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1495-15del Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1495-17T>C Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1495-18A>C Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1495-19C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1495-20C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1495-4C>A Multiple submitters hereditary neoplastic syndrome
  • c.1495-5C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1495-7T>C Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1495-8A>C Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1495-9C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1686+10C>G Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1686+10C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1686+11G>A Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1686+20C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1686+7A>G Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1686+7A>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1686+8G>A Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1686+9C>G Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1687-10C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1687-16C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1687-4C>G Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1775+10C>G Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1775+12G>C Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1775+16G>A Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1775+6G>A Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1776-18C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1776-20C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1776-23G>A Multiple submitters
  • c.1776-24C>T Multiple submitters
  • c.1776-57G>A Multiple submitters
  • c.1776-58C>T Multiple submitters
  • c.1776-7C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1776-8C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1892+10C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1892+11C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1892+7T>A Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1893-7A>C Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.2006+16C>G Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.2007-15C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.2007-4G>C Multiple submitters hereditary neoplastic syndrome
  • c.2007-4G>T Multiple submitters hereditary neoplastic syndrome
  • c.2007-7C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.2007-8C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.202+11G>A Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.202+9T>G Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.203-6del Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.2154+11G>A Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.2154+16C>A Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.2154+20G>A Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.2155-4A>C Multiple submitters hereditary neoplastic syndrome
  • c.2155-8C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.2250+11G>A Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.2250+16_2250+37del Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.2250+17C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.2250+18G>A Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.2251-4G>A Multiple submitters hereditary neoplastic syndrome
  • c.2251-66C>A Multiple submitters
  • c.2251-9C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.2388+9C>G Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.2389-15A>G Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.2389-19G>C Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.2389-8C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.2389-9C>G Multiple submitters hereditary neoplastic syndrome
  • c.2564+14C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.2564+15C>A Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.2564+19C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.2565-12G>A Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.2565-13C>G Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.2565-14C>G Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.2565-15C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.2565-18C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.2565-9C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.2717+10G>A Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.2717+8G>A Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.2717+8G>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.2717+9C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.2718-17A>C Multiple submitters hereditary neoplastic syndrome
  • c.2718-20G>A Multiple submitters
  • c.2718-20G>C Multiple submitters hereditary neoplastic syndrome
  • c.2820+12C>T Multiple submitters colon carcinoma
  • c.2821-11T>C Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.2821-4G>A Multiple submitters hereditary neoplastic syndrome
  • c.2821-4G>C Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.2821-4G>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.2953+8G>A Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.2954-11_2954-9del Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.2954-12C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.2954-19C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.2954-6C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.3067+12T>C Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.3067+17A>C Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.3067+6C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.3068-12G>A Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.3068-12G>C Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.3068-13C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.3068-154C>A Multiple submitters
  • c.3068-16A>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.3120+10C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.3120+11C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.3120+13G>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.3120+9G>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.3121-8G>A Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.316+12G>A Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.316+12G>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.316+13G>C Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.317-8C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.317-9A>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.3218+11_3218+18del Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.3218+11T>G Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.3218+14C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.3218+16C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.3218+7_3218+13del Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.3219-11C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.3219-13C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.3219-17C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.3219-20G>A Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.463+7G>A Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.464-12C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.464-6C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.590-10C>G Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.590-40C>T Multiple submitters
  • c.758+8C>G Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.759-17C>A Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.759-4C>G Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.759-4C>T Multiple submitters hereditary neoplastic syndrome
  • c.840+17G>A Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.841-15C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.841-19G>C Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.841-7C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.841-8G>A Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.841-8G>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.841-9_841-8delinsAT Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.841-9T>C Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.970+10C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.970+11G>A Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.970+12G>A Multiple submitters familial colorectal cancer type X
  • c.970+16C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.970+17G>A Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.970+7C>A Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.970+7C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.970+9C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.971-11C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.971-14C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.971-19G>C Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.971-21C>T Multiple submitters
  • c.971-8C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.971-9G>A Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.-1-4G>C Multiple submitters hereditary neoplastic syndrome
  • c.-2+76A>G Multiple submitters
  • p.Ala1004= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Ala1006= Multiple submitters hereditary neoplastic syndrome
  • p.Ala1106= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Ala127= Multiple submitters hereditary neoplastic syndrome
  • p.Ala145= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Ala152= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Ala171Ser Multiple submitters hereditary neoplastic syndrome
  • p.Ala186= Multiple submitters hereditary neoplastic syndrome
  • p.Ala221= Multiple submitters hereditary neoplastic syndrome
  • p.Ala234= Multiple submitters hereditary neoplastic syndrome
  • p.Ala242= Multiple submitters hereditary neoplastic syndrome
  • p.Ala246= Multiple submitters hereditary neoplastic syndrome
  • p.Ala28= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Ala354= Multiple submitters hereditary neoplastic syndrome
  • p.Ala46= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Ala563= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Ala584= Multiple submitters hereditary neoplastic syndrome
  • p.Ala599= Multiple submitters hereditary neoplastic syndrome
  • p.Ala666= Multiple submitters hereditary neoplastic syndrome
  • p.Ala672= Multiple submitters hereditary neoplastic syndrome
  • p.Ala692= Multiple submitters hereditary neoplastic syndrome
  • p.Ala697= Multiple submitters hereditary neoplastic syndrome
  • p.Ala771= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Ala773= Multiple submitters hereditary neoplastic syndrome
  • p.Ala778= Multiple submitters hereditary neoplastic syndrome
  • p.Ala779= Multiple submitters hereditary neoplastic syndrome
  • p.Ala810= Multiple submitters hereditary neoplastic syndrome
  • p.Ala86= Multiple submitters hereditary neoplastic syndrome
  • p.Ala860= Multiple submitters hereditary neoplastic syndrome
  • p.Ala864= Multiple submitters hereditary neoplastic syndrome
  • p.Ala891= Multiple submitters hereditary neoplastic syndrome
  • p.Ala895= Multiple submitters familial colorectal cancer type X
  • p.Ala899= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Ala904= Multiple submitters hereditary neoplastic syndrome
  • p.Ala929= Multiple submitters hereditary neoplastic syndrome
  • p.Ala934= Multiple submitters hereditary neoplastic syndrome
  • p.Ala979= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Arg1016= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Arg1032= Multiple submitters hereditary neoplastic syndrome
  • p.Arg1053= Multiple submitters hereditary neoplastic syndrome
  • p.Arg1097= Multiple submitters hereditary neoplastic syndrome
  • p.Arg119= Multiple submitters hereditary neoplastic syndrome
  • p.Arg166= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Arg174= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Arg224= Multiple submitters hereditary neoplastic syndrome
  • p.Arg232= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Arg276= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Arg306= Multiple submitters hereditary neoplastic syndrome
  • p.Arg444= Multiple submitters hereditary neoplastic syndrome
  • p.Arg5= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Arg521= Multiple submitters hereditary neoplastic syndrome
  • p.Arg639= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Arg652= Multiple submitters hereditary neoplastic syndrome
  • p.Arg683= Multiple submitters hereditary neoplastic syndrome
  • p.Arg776= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Arg791= Multiple submitters hereditary neoplastic syndrome
  • p.Arg808= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Arg817= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Arg823= Multiple submitters hereditary neoplastic syndrome
  • p.Arg849= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Arg850= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Arg875= Multiple submitters hereditary neoplastic syndrome
  • p.Arg889= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Arg910= Multiple submitters hereditary neoplastic syndrome
  • p.Arg921= Multiple submitters hereditary neoplastic syndrome
  • p.Arg968= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Arg985= Multiple submitters hereditary neoplastic syndrome
  • p.Asn1010= Multiple submitters hereditary neoplastic syndrome
  • p.Asn169= Multiple submitters hereditary neoplastic syndrome
  • p.Asn247= Multiple submitters hereditary neoplastic syndrome
  • p.Asn397= Multiple submitters hereditary neoplastic syndrome
  • p.Asn615= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Asn662= Multiple submitters hereditary neoplastic syndrome
  • p.Asn698= Multiple submitters hereditary neoplastic syndrome
  • p.Asn743= Multiple submitters hereditary neoplastic syndrome
  • p.Asn842= Multiple submitters hereditary neoplastic syndrome
  • p.Asn874= Multiple submitters hereditary neoplastic syndrome
  • p.Asp1075= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Asp132= Multiple submitters hereditary neoplastic syndrome
  • p.Asp163= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Asp25= Multiple submitters hereditary neoplastic syndrome
  • p.Asp257= Multiple submitters hereditary neoplastic syndrome
  • p.Asp259= Multiple submitters hereditary neoplastic syndrome
  • p.Asp37= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Asp67= Multiple submitters Polymerase proofreading-related adenomatous polyposis
  • p.Asp755= Multiple submitters hereditary neoplastic syndrome
  • p.Asp819= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Asp822= Multiple submitters hereditary neoplastic syndrome
  • p.Asp856= Multiple submitters hereditary neoplastic syndrome
  • p.Asp866= Multiple submitters hereditary neoplastic syndrome
  • p.Asp870= Multiple submitters hereditary neoplastic syndrome
  • p.Asp88= Multiple submitters hereditary neoplastic syndrome
  • p.Asp893= Multiple submitters hereditary neoplastic syndrome
  • p.Asp920= Multiple submitters hereditary neoplastic syndrome
  • p.Asp941= Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Asp987= Multiple submitters hereditary neoplastic syndrome
  • p.Cys1011= Multiple submitters hereditary neoplastic syndrome
  • p.Cys1029= Multiple submitters hereditary neoplastic syndrome

Uncertain significance 2826

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

  • c.1137+1G>A Multiple submitters hereditary neoplastic syndrome
  • c.1137+3A>G Multiple submitters hereditary neoplastic syndrome
  • c.1208_1242+40del Multiple submitters hereditary neoplastic syndrome
  • c.1383+1G>A Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1383+1G>C Multiple submitters hereditary neoplastic syndrome
  • c.1383+1G>T Multiple submitters hereditary neoplastic syndrome
  • c.1383+4T>C Multiple submitters hereditary neoplastic syndrome
  • c.1383+5G>A Multiple submitters hereditary neoplastic syndrome
  • c.1384-10A>C Multiple submitters hereditary neoplastic syndrome
  • c.1494+4C>G Multiple submitters hereditary neoplastic syndrome
  • c.1687-1G>A Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1687-2A>G Multiple submitters hereditary neoplastic syndrome
  • c.1775+5G>A Multiple submitters hereditary neoplastic syndrome
  • c.1892+3A>G Multiple submitters mandibular hypoplasia-deafness-progeroid syndrome
  • c.1893-5C>G Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.1893-6A>G Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.2007-5C>A Multiple submitters hereditary neoplastic syndrome
  • c.203-3C>G Multiple submitters hereditary neoplastic syndrome
  • c.2154+2T>C Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.2154+3G>A Multiple submitters hereditary neoplastic syndrome
  • c.2250+4G>C Multiple submitters hereditary neoplastic syndrome
  • c.2251-1G>C Multiple submitters hereditary neoplastic syndrome
  • c.2251-3C>T Multiple submitters hereditary neoplastic syndrome
  • c.2565-3C>G Multiple submitters hereditary neoplastic syndrome
  • c.2718-5C>G Multiple submitters hereditary neoplastic syndrome
  • c.2805_2820+44del Multiple submitters hereditary neoplastic syndrome
  • c.2820+1G>A Multiple submitters hereditary neoplastic syndrome
  • c.2953+1G>A Multiple submitters hereditary neoplastic syndrome
  • c.2953+3A>G Multiple submitters hereditary neoplastic syndrome
  • c.2953+5G>A Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.2954-1G>A Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.2954-2del Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.2954-3C>A Multiple submitters hereditary neoplastic syndrome
  • c.2959del Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.2959dup Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.3067+3G>A Multiple submitters hereditary neoplastic syndrome
  • c.3106_3120+11dup Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.3119_3120+1del Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.3121-2A>G Multiple submitters hereditary neoplastic syndrome
  • c.3121-9C>A Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.316+4A>G Multiple submitters hereditary neoplastic syndrome
  • c.317-2_349del Multiple submitters hereditary neoplastic syndrome
  • c.317-3C>G Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.3203_3218+1dup Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.3218+1G>A Multiple submitters hereditary neoplastic syndrome
  • c.3218+2T>C Multiple submitters hereditary neoplastic syndrome
  • c.3218+4T>C Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.3219-3C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.463+1G>A Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.464-5_466del Multiple submitters hereditary neoplastic syndrome
  • c.587_589+1del Multiple submitters hereditary neoplastic syndrome
  • c.587_589+1dupAGAG Multiple submitters hereditary neoplastic syndrome
  • c.589_589+1del Multiple submitters hereditary neoplastic syndrome
  • c.589+2dup Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.589+2T>A Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.589+4A>C Multiple submitters hereditary neoplastic syndrome
  • c.589+5G>A Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.590-1G>A Multiple submitters hereditary neoplastic syndrome
  • c.590-2A>G Multiple submitters hereditary neoplastic syndrome
  • c.759-3C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.840+4C>G Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.840+4C>T Multiple submitters hereditary neoplastic syndrome
  • c.841-3C>T Multiple submitters hereditary neoplastic syndrome
  • c.970+1dup Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.970+1G>A Multiple submitters hereditary neoplastic syndrome
  • c.970+1G>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.970+5G>A Multiple submitters hereditary neoplastic syndrome
  • c.971-2A>G Multiple submitters hereditary neoplastic syndrome
  • c.971-3C>A Multiple submitters hereditary neoplastic syndrome
  • c.971-3C>T Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • c.971-4dup Multiple submitters hereditary neoplastic syndrome
  • c.-1G>A Multiple submitters hereditary neoplastic syndrome
  • c.-2+1G>C Multiple submitters hereditary neoplastic syndrome
  • p.51QE[1] Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.51QE[3] Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Ala1004Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala1006Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala1024Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala1024Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala1046Thr Multiple submitters POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Ala1046Val Multiple submitters POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Ala108Val Multiple submitters POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Ala1106Asp Multiple submitters POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Ala127Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala152Pro Multiple submitters POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Ala152Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala171Thr Multiple submitters POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Ala18_Gly20del Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Ala186Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala186Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala189Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala18Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala221Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala221Val Multiple submitters POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Ala234Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala242Val Multiple submitters POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Ala246Asp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala288Glu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala28Val Multiple submitters POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Ala308Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala320Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala320Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala361Val Multiple submitters POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Ala366Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala366Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala380Val Multiple submitters POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Ala410Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala425Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala425Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala516Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala536Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala536Thr Multiple submitters POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Ala536Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala627Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala66Val Multiple submitters POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Ala672Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala675Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala692Val Multiple submitters POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Ala706fs Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Ala706Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala749Gly Multiple submitters hereditary neoplastic syndrome
  • p.Ala74Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala769Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala771Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala779Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala779Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala810fs Multiple submitters hereditary neoplastic syndrome
  • p.Ala810Glu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala810Ser Multiple submitters POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Ala810Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala820Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala820Val Multiple submitters POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Ala831Val Multiple submitters POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Ala860Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala860Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala862Asp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala864Thr Multiple submitters POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Ala864Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala86Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala890Thr Multiple submitters POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Ala891Pro Multiple submitters POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Ala904Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala904Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala915Val Multiple submitters POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Ala929Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala929Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala930Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala930Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala930Val Multiple submitters POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Ala934Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala935Thr Multiple submitters immunodeficiency 120 ⚠
  • p.Ala935Val Multiple submitters POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Ala963fs Multiple submitters hereditary neoplastic syndrome
  • p.Ala963Ser Multiple submitters POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Ala963Thr Multiple submitters POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Ala981Ser Multiple submitters POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Arg1008Cys Multiple submitters Polymerase proofreading-related adenomatous polyposis ⚠
  • p.Arg1008Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg1009Cys Multiple submitters familial colorectal cancer type X ⚠
  • p.Arg1016Cys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg1032Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg1032Trp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg1053Cys Multiple submitters hereditary neoplastic syndrome
  • p.Arg1053His Multiple submitters POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Arg1060Cys Multiple submitters POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Arg1060His Multiple submitters POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Arg1060Leu Multiple submitters POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Arg1074= Multiple submitters hereditary neoplastic syndrome
  • p.Arg1074Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg1074Gly Multiple submitters POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Arg1074Trp Multiple submitters POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Arg1082Gly Multiple submitters POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Arg1082His Multiple submitters POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Arg1082Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg1082Pro Multiple submitters POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Arg1086Leu Multiple submitters POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Arg1086Pro Multiple submitters POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Arg1097Trp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg1098His Multiple submitters Polymerase proofreading-related adenomatous polyposis ⚠
  • p.Arg1098Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg126Cys Multiple submitters hereditary neoplastic syndrome
  • p.Arg126His Multiple submitters hereditary neoplastic syndrome
  • p.Arg126Pro Multiple submitters POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Arg166Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg166Trp Multiple submitters POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Arg177Cys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg180fs Multiple submitters hereditary neoplastic syndrome
  • p.Arg180Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg180Trp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg195Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg211Cys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg211Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg218Cys Multiple submitters mandibular hypoplasia-deafness-progeroid syndrome ⚠
  • p.Arg224Cys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg224Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg225Cys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg232Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg253Gln Multiple submitters POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Arg253Trp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg276Lys Multiple submitters POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Arg306Cys Multiple submitters POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Arg30Leu Multiple submitters POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Arg311Cys Multiple submitters POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Arg311fs Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Arg311His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg311Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg322Cys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg322Gly Multiple submitters POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Arg322His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg322Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg331Trp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg343Cys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg343His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg343Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg352Cys Multiple submitters hereditary neoplastic syndrome
  • p.Arg352fs Multiple submitters hereditary neoplastic syndrome
  • p.Arg352Leu Multiple submitters mandibular hypoplasia-deafness-progeroid syndrome ⚠
  • p.Arg358Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg358Gly Multiple submitters POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Arg386Cys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg409fs Multiple submitters hereditary neoplastic syndrome
  • p.Arg409Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg409Gly Multiple submitters POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Arg409Pro Multiple submitters POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Arg409Trp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg423Cys Multiple submitters POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Arg423His Multiple submitters POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Arg432Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg432Trp Multiple submitters mandibular hypoplasia-deafness-progeroid syndrome ⚠
  • p.Arg443Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg443Trp Multiple submitters hereditary neoplastic syndrome
  • p.Arg444Gln Multiple submitters hereditary neoplastic syndrome
  • p.Arg444Trp Multiple submitters POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Arg454Cys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg454fs Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Arg454His Multiple submitters POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Arg454Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg465Gln Multiple submitters hereditary neoplastic syndrome
  • p.Arg465Trp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg470_Leu474dup Multiple submitters hereditary neoplastic syndrome
  • p.Arg49Gly Multiple submitters POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Arg505Cys Multiple submitters POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Arg505His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg505Pro Multiple submitters POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Arg506Cys Multiple submitters mandibular hypoplasia-deafness-progeroid syndrome ⚠
  • p.Arg506His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg521Trp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg525Trp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg537Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg549Cys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg549His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg561Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg561Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg561Trp Multiple submitters POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Arg639fs Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Arg652Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg652Trp Multiple submitters hereditary neoplastic syndrome
  • p.Arg667Gln Multiple submitters POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Arg667Trp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg682Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg682Trp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg683Cys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg683His Multiple submitters POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Arg683Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg689Gln Multiple submitters mandibular hypoplasia-deafness-progeroid syndrome ⚠
  • p.Arg689Trp Multiple submitters POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Arg6del Multiple submitters hereditary neoplastic syndrome
  • p.Arg725Cys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg725His Multiple submitters POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Arg762_Gly764del Multiple submitters POLD1-related polyposis and colorectal cancer syndrome
  • p.Arg762Ter Multiple submitters hereditary neoplastic syndrome
  • p.Arg776Trp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg78Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg791Trp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg808His Multiple submitters POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Arg817Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg817Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg817Pro Multiple submitters immunodeficiency 120 ⚠
  • p.Arg817Trp Multiple submitters POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Arg81Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg81Pro Multiple submitters immunodeficiency 120 ⚠
  • p.Arg81Trp Multiple submitters POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Arg823Pro Multiple submitters POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Arg833His Multiple submitters POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Arg833Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg834Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg849Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg850Cys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg855Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg855Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg855Ter Multiple submitters hereditary neoplastic syndrome
  • p.Arg875Cys Multiple submitters hereditary neoplastic syndrome
  • p.Arg875Gly Multiple submitters POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Arg875His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg875Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg889Cys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg889His Multiple submitters hereditary neoplastic syndrome
  • p.Arg889Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg906Ser Multiple submitters POLD1-related polyposis and colorectal cancer syndrome ⚠
  • p.Arg910Gln Multiple submitters hereditary neoplastic syndrome ⚠