Sugi Variant

Sugi Variant/MLH1

MLH1 — 5459 ClinVar variants

All ClinVar germline MLH1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1986 flagged for review →

1029 Pathogenic · 136 Pathogenic/Likely pathogenic · 314 Likely pathogenic · 497 Conflicting · 163 Benign · 339 Benign/Likely benign · 914 Likely benign · 2067 Uncertain significance

Full MLH1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 1986

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 11

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

Predictors agree, ClinVar conflicts 251

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification. · showing the 150 best-reviewed of 251

Predicted LoF vs a conflicting call 3

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 1252

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 1252

Predictors split 469

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 469

All MLH1 variants

Pathogenic 1029

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

Pathogenic/Likely pathogenic 136

  • c.1024_1038+1del Multiple submitters Lynch syndrome
  • c.1038+1G>A Multiple submitters hereditary nonpolyposis colon cancer
  • c.1038+1G>T Multiple submitters hereditary neoplastic syndrome
  • c.1039-1G>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1039-1G>T Multiple submitters hereditary neoplastic syndrome
  • c.1039-2A>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.116+1G>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.116+1G>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.117-1G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.117-2A>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1409+1G>T Multiple submitters hereditary nonpolyposis colon cancer
  • c.1409+2T>C Multiple submitters hereditary neoplastic syndrome
  • c.1410-2_1410-1delinsCC Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1410-2A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1558+1dup Multiple submitters hereditary neoplastic syndrome
  • c.1558+1G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1558+2T>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1667+1G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1667+2T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1668-2A>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1731+2T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1732-2A>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1897-28_1900delinsTCAGAAAAT Multiple submitters Lynch syndrome 2
  • c.1989_1989+8del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1989+1del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1989+5G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1989+5G>C Multiple submitters hereditary neoplastic syndrome
  • c.1989+5G>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1990-1G>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1990-2A>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.207+5G>C Multiple submitters hereditary neoplastic syndrome
  • c.208-2A>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.208-3C>A Multiple submitters hereditary neoplastic syndrome
  • c.2100_2103+13delinsCTG Multiple submitters hereditary neoplastic syndrome
  • c.2103+2T>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.2103+3A>G Multiple submitters MLH1-related disorder
  • c.2104-1G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.306+1222A>G Multiple submitters hereditary neoplastic syndrome
  • c.307-2A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.380+1G>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.380+1G>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.381-1G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.381-1G>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.453+1G>A Multiple submitters hereditary neoplastic syndrome
  • c.453+1G>C Multiple submitters Lynch syndrome 2
  • c.453+2_453+7delinsGATC Multiple submitters hereditary neoplastic syndrome
  • c.453+2T>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.545+1G>C Multiple submitters hereditary neoplastic syndrome
  • c.545+1G>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.546-1G>C Multiple submitters hereditary neoplastic syndrome
  • c.546-2A>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.588+2T>C Multiple submitters hereditary neoplastic syndrome
  • c.588+5G>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.588+5G>T Multiple submitters Lynch syndrome 2
  • c.589-1G>A Multiple submitters Lynch syndrome 2
  • c.677+1G>C Multiple submitters hereditary neoplastic syndrome
  • c.677+2T>G Multiple submitters hereditary neoplastic syndrome
  • c.677+5G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.678-1G>A Multiple submitters hereditary neoplastic syndrome
  • c.678-3T>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.790+3A>T Multiple submitters Lynch syndrome
  • c.790+4A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.790+5G>A Multiple submitters hereditary neoplastic syndrome
  • c.791-1G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.884+1_884+2del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.884+1G>A Multiple submitters Lynch syndrome 2
  • c.884+3A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.885-1G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.885-1G>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.-27C>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ala125Glu Multiple submitters hereditary neoplastic syndrome
  • p.Ala586Asp Multiple submitters Lynch syndrome 2
  • p.Ala681Pro Multiple submitters hereditary neoplastic syndrome
  • p.Ala681Val Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Arg127Ile Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Arg127Thr Multiple submitters hereditary neoplastic syndrome
  • p.Arg265fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Arg265Gly Multiple submitters hereditary neoplastic syndrome
  • p.Arg273fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asn38Tyr Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asp41Val Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asp63Asn Multiple submitters Lynch syndrome
  • p.Asp63His Multiple submitters hereditary neoplastic syndrome
  • p.Asp63Val Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gln346Ter Multiple submitters Lynch syndrome 2
  • p.Gln510fs Multiple submitters Lynch syndrome 2
  • p.Gln86fs Multiple submitters Lynch syndrome 2
  • p.Glu102Ter Multiple submitters hereditary neoplastic syndrome
  • p.Glu230Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Glu37Gly Multiple submitters MLH1-related disorder
  • p.Glu37Lys Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Glu620fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Glu663Asp Multiple submitters Lynch syndrome ⚠
  • p.Gly244Val Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gly67Arg Multiple submitters Lynch syndrome
  • p.Gly699fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gly98Phe Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.His109fs Multiple submitters hereditary neoplastic syndrome
  • p.His329fs Multiple submitters hereditary nonpolyposis colon cancer
  • p.Ile107Lys Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ile501fs Multiple submitters Lynch syndrome 2
  • p.Ile719_Val720insTer Multiple submitters Lynch syndrome 2
  • p.Leu11_Asp12insTer Multiple submitters hereditary neoplastic syndrome
  • p.Leu292Pro Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Leu349fs Multiple submitters Lynch syndrome 2
  • p.Leu555Arg Multiple submitters Lynch syndrome
  • p.Leu58fs Multiple submitters Lynch syndrome 2
  • p.Leu636fs Multiple submitters Lynch syndrome 2
  • p.Leu653Pro Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Leu73Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu741fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Lys123fs Multiple submitters hereditary neoplastic syndrome
  • p.Lys195Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Lys52Ter Multiple submitters hereditary neoplastic syndrome
  • p.Lys678Ter Multiple submitters Lynch syndrome 2
  • p.Phe261fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Phe614fs Multiple submitters Lynch syndrome 2
  • p.Phe80fs Multiple submitters Lynch syndrome 2
  • p.Pro300fs Multiple submitters Lynch syndrome
  • p.Pro403fs Multiple submitters hereditary neoplastic syndrome
  • p.Pro581fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Pro640Arg Multiple submitters Lynch syndrome 2
  • p.Pro640Thr Multiple submitters hereditary neoplastic syndrome
  • p.Ser225fs Multiple submitters hereditary neoplastic syndrome
  • p.Ser44Phe Multiple submitters hereditary neoplastic syndrome
  • p.Ser44Tyr Multiple submitters Lynch syndrome
  • p.Ser556Asn Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ser577= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Thr545fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Thr82del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Tyr130Cys Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Tyr343Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Tyr721fs Multiple submitters hereditary nonpolyposis colon cancer
  • p.Tyr750_Lys751delinsTer Multiple submitters hereditary neoplastic syndrome
  • p.Val24fs Multiple submitters hereditary neoplastic syndrome
  • p.Val51Asp Multiple submitters hereditary neoplastic syndrome

Likely pathogenic 314

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

Conflicting classifications of pathogenicity 497

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

  • c.1038+8C>A Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.1039-3C>A Single submitter hereditary neoplastic syndrome
  • c.1039-3C>G Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.1039-3C>T Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.1039-7_1039-6dup Single submitter Muir-Torre syndrome
  • c.1039-7_1040del Single submitter Lynch syndrome
  • c.1039-7A>T Single submitter hereditary neoplastic syndrome
  • c.1039-8_1039-7insTTTA Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.1039-8_1039-7insTTTTAA Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.1039-8_1039-7insTTTTTTA Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.1039-8_1039-7insTTTTTTTTTTTTTTTA Single submitter hereditary neoplastic syndrome
  • c.1039-9_1039-8dup Single submitter hereditary neoplastic syndrome
  • c.116+10G>T Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.116+14C>G Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.116+4C>A Single submitter hereditary neoplastic syndrome
  • c.116+5G>A Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.116+6G>A Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.116+8G>A Single submitter hereditary neoplastic syndrome
  • c.117-16_117-15del Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.117-3C>T Single submitter hereditary neoplastic syndrome
  • c.117-5G>C Single submitter hereditary neoplastic syndrome
  • c.117-6T>A Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.1409+8C>G Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.1410-4G>T Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.1410-5T>C Single submitter hereditary neoplastic syndrome
  • c.1410-7A>G Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.1558+4C>T Single submitter Lynch syndrome
  • c.1558+5G>A Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.1558+6T>C Single submitter hereditary neoplastic syndrome
  • c.1559-11T>C Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.1559-3C>T Single submitter hereditary neoplastic syndrome
  • c.1559-5T>G Single submitter hereditary neoplastic syndrome
  • c.1667+4A>C Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.1667+4A>G Single submitter Muir-Torre syndrome
  • c.1668-12T>A Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.1668-13T>C Single submitter hereditary neoplastic syndrome
  • c.1668-13T>G Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.1668-18C>T Single submitter Lynch syndrome 2
  • c.1668-20_1668-19inv Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.1668-5T>G Single submitter hereditary neoplastic syndrome
  • c.1668-6T>C Single submitter hereditary neoplastic syndrome
  • c.1668-9del Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.1731+11A>T Single submitter Lynch syndrome 2
  • c.1731+2dup Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • c.1732-3T>C Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.1732-4C>G Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.1732-5C>G Single submitter Muir-Torre syndrome
  • c.1896+3G>A Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.1896+4T>C Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.1896+5G>A Single submitter hereditary neoplastic syndrome
  • c.1897-11C>T Single submitter hereditary neoplastic syndrome
  • c.1897-3C>T Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.1897-7C>T Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.1897-8G>T Single submitter hereditary neoplastic syndrome
  • c.1989+12A>G Single submitter hereditary neoplastic syndrome
  • c.1989+20C>G Single submitter hereditary neoplastic syndrome
  • c.1989+3dup Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.1989+6T>C Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.1990-19T>C Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.1990-3C>G Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.1990-5A>T Single submitter hereditary neoplastic syndrome
  • c.207+12C>T Single submitter hereditary neoplastic syndrome
  • c.207+5G>A Single submitter hereditary neoplastic syndrome
  • c.208-16T>C Single submitter hereditary neoplastic syndrome
  • c.208-5A>G Single submitter hereditary neoplastic syndrome
  • c.2103+6G>T Single submitter Lynch syndrome 2
  • c.2104-13A>T Single submitter Lynch syndrome 2
  • c.2104-3C>T Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.2104-4C>G Single submitter Lynch syndrome
  • c.2104-5del Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.2104-6_2104-5delinsGG Single submitter hereditary neoplastic syndrome
  • c.2104-6T>C Single submitter Lynch syndrome 2
  • c.306+3A>G Single submitter hereditary neoplastic syndrome
  • c.306+6C>T Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.307-5C>T Single submitter hereditary neoplastic syndrome
  • c.380+5A>G Single submitter hereditary neoplastic syndrome
  • c.380+6G>T Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.381-3T>C Single submitter hereditary neoplastic syndrome
  • c.381-5A>G Single submitter Breast and/or ovarian cancer
  • c.453+10G>T Single submitter Lynch syndrome 2
  • c.454-10T>G Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.454-2_459dup Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • c.454-6G>A Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.545+5A>G Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.546-3C>T Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.546-5del Single submitter Lynch syndrome 2
  • c.588+3_588+6del Single submitter hereditary neoplastic syndrome
  • c.589-10T>G Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.589-3C>T Single submitter hereditary neoplastic syndrome
  • c.589-6T>G Single submitter Lynch syndrome
  • c.589-9_589-6del Single submitter hereditary neoplastic syndrome
  • c.677+3A>T Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.678-13del Single submitter Lynch syndrome 2
  • c.678-4A>T Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.678-5A>G Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.678-9_678-8del Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.791-3T>G Single submitter hereditary neoplastic syndrome
  • c.791-6_791-4del Single submitter hereditary neoplastic syndrome
  • c.884+4A>C Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.884+5T>C Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.884+6G>A Single submitter Lynch syndrome 2
  • c.884+9G>C Single submitter hereditary neoplastic syndrome
  • c.885-19_885-18delinsCT Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.885-3C>T Single submitter hereditary neoplastic syndrome
  • c.-117G>T Single submitter Lynch syndrome 2
  • c.-11C>T Single submitter hereditary neoplastic syndrome
  • c.-14C>T Single submitter hereditary neoplastic syndrome
  • c.-15T>C Single submitter hereditary neoplastic syndrome
  • c.-21C>T Single submitter Lynch syndrome 2
  • c.-28A>C Single submitter hereditary neoplastic syndrome
  • c.-28A>G Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.-28A>T Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.-30A>C Single submitter Lynch syndrome 2
  • c.-7C>T Single submitter Breast and/or ovarian cancer
  • c.-8G>T Single submitter hereditary neoplastic syndrome
  • c.*1A>G Single submitter Lynch syndrome 2
  • c.*3A>G Single submitter hereditary neoplastic syndrome
  • c.*4T>C Single submitter hereditary neoplastic syndrome
  • c.*6G>T Single submitter hereditary neoplastic syndrome
  • c.*9_*11del Single submitter hereditary neoplastic syndrome
  • p.Ala111Thr Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala120Gly Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala160Ser Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala160Val Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala188Val Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala20= Single submitter Hereditary nonpolyposis colorectal neoplasms
  • p.Ala21Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala282Thr Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala29Ser Single submitter Lynch syndrome 2 ⚠
  • p.Ala31Cys Single submitter Breast and/or ovarian cancer
  • p.Ala31Gly Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala31Ser Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala31Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala353Gly Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala395= Single submitter Hereditary nonpolyposis colorectal neoplasms
  • p.Ala424Thr Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala42Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala442Asp Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala492Thr Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala492Val Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala541Pro Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala569Val Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala580Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala589Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala5Val Single submitter Hereditary nonpolyposis colorectal neoplasms
  • p.Ala608Pro Single submitter Lynch syndrome 2 ⚠
  • p.Ala608Val Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala619Thr Single submitter Lynch syndrome 1 ⚠
  • p.Arg127= Single submitter Hereditary nonpolyposis colorectal neoplasms
  • p.Arg163= Single submitter Lynch syndrome 2
  • p.Arg182Thr Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg18Cys Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg217Cys Single submitter hereditary nonpolyposis colon cancer ⚠
  • p.Arg217His Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg217Pro Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg265His Single submitter hereditary nonpolyposis colon cancer ⚠
  • p.Arg27= Single submitter Hereditary nonpolyposis colorectal neoplasms
  • p.Arg27Gln Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg27Trp Single submitter Lynch syndrome 2 ⚠
  • p.Arg325Trp Single submitter Lynch syndrome ⚠
  • p.Arg385Cys Single submitter Hereditary cancer ⚠
  • p.Arg385His Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg385Pro Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg389Gln Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg389Trp Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg423= Single submitter Hereditary nonpolyposis colorectal neoplasms
  • p.Arg423Lys Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg423Thr Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg425Gly Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg472Lys Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg474= Single submitter hereditary neoplastic syndrome
  • p.Arg474Gln Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg474Gly Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg474Trp Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg487Gln Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg497Gln Single submitter Lynch syndrome 2 ⚠
  • p.Arg497Gly Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg497Trp Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg522Gln Single submitter Lynch syndrome ⚠
  • p.Arg522Trp Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg659Gln Single submitter Lynch syndrome ⚠
  • p.Arg687Gln Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg687Gly Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg69Lys Single submitter Lynch syndrome ⚠
  • p.Arg725Cys Single submitter Lynch syndrome ⚠
  • p.Arg725Gly Single submitter Hereditary nonpolyposis colorectal neoplasms
  • p.Arg725His Single submitter Lynch syndrome ⚠
  • p.Arg9= Single submitter hereditary nonpolyposis colon cancer
  • p.Asn209Ser Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asn215Ser Single submitter hereditary nonpolyposis colon cancer ⚠
  • p.Asn222Ser Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asn306Ser Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asn338Ser Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asn38Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Asn444Ser Single submitter Lynch syndrome 2 ⚠
  • p.Asn514Ser Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asn551Ile Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asn551Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Asn570Ser Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asn635Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Asn64Ser Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asn710Asp Single submitter Lynch syndrome ⚠
  • p.Asn739Lys Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp121Gly Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp203Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Asp235Val Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp304Gly Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp415Asn Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp415Glu Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp450Tyr Single submitter hereditary neoplastic syndrome ⚠
  • p.Asp484Gly Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp485Tyr Single submitter hereditary neoplastic syndrome ⚠
  • p.Asp584Glu Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp624= Single submitter Lynch syndrome
  • p.Asp63Gly Single submitter hereditary nonpolyposis colon cancer ⚠
  • p.Asp737Val Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp74= Single submitter Hereditary nonpolyposis colorectal neoplasms
  • p.Asp748His Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp74Val Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Cys124Arg Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Cys124Tyr Single submitter hereditary neoplastic syndrome ⚠
  • p.Cys233del Single submitter hereditary neoplastic syndrome
  • p.Cys39Arg Single submitter hereditary neoplastic syndrome ⚠
  • p.Cys39Trp Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Cys672Trp Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Cys680= Single submitter Lynch syndrome
  • p.Cys680Gly Single submitter hereditary neoplastic syndrome ⚠
  • p.Cys77Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Gln327Glu Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Gln391Arg Single submitter Hereditary nonpolyposis colorectal neoplasms
  • p.Gln426Leu Single submitter mismatch repair cancer syndrome 1 ⚠
  • p.Gln445= Single submitter hereditary neoplastic syndrome
  • p.Gln542Leu Single submitter hereditary neoplastic syndrome ⚠
  • p.Gln562Pro Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Gln62= Single submitter Hereditary nonpolyposis colorectal neoplasms
  • p.Gln62Pro Single submitter hereditary neoplastic syndrome ⚠
  • p.Gln701Arg Single submitter hereditary neoplastic syndrome ⚠
  • p.Glu102Ala Single submitter hereditary breast ovarian cancer syndrome ⚠
  • p.Glu13Lys Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Glu171= Single submitter Lynch syndrome
  • p.Glu172= Single submitter hereditary neoplastic syndrome
  • p.Glu178Ter Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Glu199Gln Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Glu227= Single submitter Lynch syndrome 2
  • p.Glu319Lys Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Glu320Asp Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Glu331Lys Single submitter MLH1-related disorder ⚠
  • p.Glu34Lys Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Glu37Gln Single submitter hereditary neoplastic syndrome ⚠
  • p.Glu430del Single submitter hereditary neoplastic syndrome
  • p.Glu448Asp Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Glu457Val Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Glu460Ala Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Glu483Lys Single submitter hereditary neoplastic syndrome ⚠
  • p.Glu53Lys Single submitter hereditary neoplastic syndrome ⚠
  • p.Glu557Lys Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Glu558del Single submitter Hereditary nonpolyposis colorectal neoplasms
  • p.Glu632Asp Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Glu663Gly Single submitter Lynch syndrome 2 ⚠
  • p.Glu668Lys Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Glu671Gly Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Glu674Lys Single submitter Lynch syndrome ⚠
  • p.Glu694Ser Single submitter Lynch syndrome
  • p.Glu703Lys Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Glu717Asp Single submitter hereditary neoplastic syndrome ⚠
  • p.Gly101Val Single submitter Lynch syndrome 2 ⚠
  • p.Gly147Arg Single submitter Lynch syndrome 2 ⚠
  • p.Gly181Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Gly189= Single submitter Hereditary nonpolyposis colorectal neoplasms
  • p.Gly232Arg Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Gly336Asp Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Gly351Arg Single submitter mismatch repair cancer syndrome 1 ⚠
  • p.Gly354Ser Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Gly373Arg Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Gly532Asp Single submitter hereditary nonpolyposis colon cancer ⚠
  • p.Gly572Ser Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Gly67Val Single submitter Lynch syndrome 2 ⚠
  • p.Gly738Glu Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Gly98Arg Single submitter Lynch syndrome 2 ⚠
  • p.Gly98Asp Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Gly98Ser Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.His109Pro Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.His264Asp Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.His264Leu Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.His264Tyr Single submitter Lynch syndrome ⚠
  • p.His315Gln Single submitter Hereditary nonpolyposis colorectal neoplasms
  • p.His315Tyr Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.His318Gln Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.His329Arg Single submitter hereditary neoplastic syndrome ⚠
  • p.His381Tyr Single submitter hereditary neoplastic syndrome ⚠
  • p.His518= Single submitter Hereditary nonpolyposis colorectal neoplasms
  • p.His526Arg Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.His543Arg Single submitter Inherited ovarian cancer (without breast cancer) ⚠
  • p.Ile107Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ile115Asn Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ile115Val Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ile231Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ile246Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ile262Met Single submitter Lynch syndrome ⚠
  • p.Ile276Met Single submitter hereditary neoplastic syndrome ⚠

Benign 163

Benign/Likely benign 339

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

  • c.1038+9G>A Multiple submitters Muir-Torre syndrome
  • c.1039-10_1039-8dup Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1039-11_1039-8dup Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1039-12_1039-8del Multiple submitters Lynch syndrome 2
  • c.1039-14_1039-8del Multiple submitters hereditary neoplastic syndrome
  • c.1039-26T>A Multiple submitters
  • c.1039-27T>A Multiple submitters Lynch syndrome
  • c.1039-29_1039-24del Multiple submitters hereditary neoplastic syndrome
  • c.1039-29A>T Multiple submitters hereditary neoplastic syndrome
  • c.1039-31_1039-24del Multiple submitters hereditary neoplastic syndrome
  • c.1039-31_1039-25del Multiple submitters hereditary neoplastic syndrome
  • c.1039-31_1039-26del Multiple submitters hereditary neoplastic syndrome
  • c.1039-31A>T Multiple submitters hereditary neoplastic syndrome
  • c.1039-31del Multiple submitters hereditary neoplastic syndrome
  • c.1039-33_1039-25del Multiple submitters hereditary neoplastic syndrome
  • c.1039-33_1039-26del Multiple submitters hereditary neoplastic syndrome
  • c.1039-35A>T Multiple submitters Lynch syndrome 2
  • c.1039-5T>C Multiple submitters Lynch syndrome 2
  • c.1039-6dup Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1039-8_1039-7insTA Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1039-8_1039-7insTTA Multiple submitters hereditary neoplastic syndrome
  • c.1039-8_1039-7insTTTTA Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1039-8_1039-7insTTTTTA Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1039-8_1039-7insTTTTTTTTA Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1039-8del Multiple submitters Breast and/or ovarian cancer
  • c.1039-8dup Multiple submitters Breast and/or ovarian cancer
  • c.1039-9_1039-8del Multiple submitters Lynch syndrome 2
  • c.117-10G>A Multiple submitters hereditary neoplastic syndrome
  • c.1410-10T>G Multiple submitters Lynch syndrome
  • c.1410-24T>G Multiple submitters Lynch syndrome 2
  • c.1410-254G>A Multiple submitters
  • c.1410-28G>T Multiple submitters Lynch syndrome 2
  • c.1559-10dup Multiple submitters Lynch syndrome 2
  • c.1731+8_1731+10dup Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1731+8T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1732-19T>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1732-7T>C Multiple submitters hereditary neoplastic syndrome
  • c.1896+7C>T Multiple submitters hereditary neoplastic syndrome
  • c.1897-17C>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1990-6G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1990-9T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.2104-11G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.2104-19C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.306+17A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.307-10T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.453+20G>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.454-6G>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.545+10A>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.545+19G>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.545+20A>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.546-16del Multiple submitters Lynch syndrome 2
  • c.589-13G>A Multiple submitters hereditary neoplastic syndrome
  • c.677+26del Multiple submitters hereditary neoplastic syndrome
  • c.677+26dup Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.790+20A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.791-10dup Multiple submitters Lynch syndrome 2
  • c.791-14T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.884+10C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.884+16A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.*7TTAT[1] Multiple submitters Lynch syndrome
  • p.Ala103= Multiple submitters hereditary neoplastic syndrome
  • p.Ala160= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ala188= Multiple submitters hereditary neoplastic syndrome
  • p.Ala21= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ala210= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ala239= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ala380= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ala410= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ala42= Multiple submitters hereditary neoplastic syndrome
  • p.Ala436= Multiple submitters hereditary neoplastic syndrome
  • p.Ala438= Multiple submitters Lynch syndrome 2
  • p.Ala5= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ala541= Multiple submitters hereditary neoplastic syndrome
  • p.Ala580= Multiple submitters Lynch syndrome 2
  • p.Ala608= Multiple submitters Lynch syndrome
  • p.Ala619= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ala681= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ala92= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Arg10= Multiple submitters Lynch syndrome 2
  • p.Arg205= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Arg325= Multiple submitters hereditary neoplastic syndrome
  • p.Arg389= Multiple submitters Lynch syndrome 2
  • p.Arg425= Multiple submitters hereditary neoplastic syndrome
  • p.Arg498= Multiple submitters hereditary neoplastic syndrome
  • p.Arg499= Multiple submitters Lynch syndrome 2
  • p.Arg575= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Arg659= Multiple submitters Lynch syndrome 2
  • p.Arg687= Multiple submitters hereditary neoplastic syndrome
  • p.Arg755= Multiple submitters hereditary neoplastic syndrome
  • p.Arg79= Multiple submitters hereditary neoplastic syndrome
  • p.Asn168= Multiple submitters Lynch syndrome 2
  • p.Asn17= Multiple submitters hereditary neoplastic syndrome
  • p.Asn187= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asn215= Multiple submitters hereditary neoplastic syndrome
  • p.Asn243= Multiple submitters Lynch syndrome 2
  • p.Asn287= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asn30= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asn302= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asn306= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asn468= Multiple submitters hereditary neoplastic syndrome
  • p.Asn502= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asn514= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asn535= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asn645= Multiple submitters Lynch syndrome 2
  • p.Asn665= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asn745= Multiple submitters hereditary neoplastic syndrome
  • p.Asp12= Multiple submitters hereditary neoplastic syndrome
  • p.Asp132= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asp154= Multiple submitters Breast and/or ovarian cancer
  • p.Asp235= Multiple submitters hereditary neoplastic syndrome
  • p.Asp387= Multiple submitters Lynch syndrome
  • p.Asp418= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asp428= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asp450= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asp484= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asp591= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asp601= Multiple submitters hereditary neoplastic syndrome
  • p.Asp63= Multiple submitters Lynch syndrome 2
  • p.Asp631= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asp667= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asp748= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Cys256= Multiple submitters Lynch syndrome 2
  • p.Cys494= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Cys672= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Cys77= Multiple submitters hereditary neoplastic syndrome
  • p.Gln149= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gln26= Multiple submitters hereditary neoplastic syndrome
  • p.Gln327= Multiple submitters hereditary neoplastic syndrome
  • p.Gln409= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gln48= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gln537= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gln544= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Glu13= Multiple submitters Lynch syndrome 2
  • p.Glu178= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Glu199= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Glu23= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Glu268= Multiple submitters hereditary neoplastic syndrome
  • p.Glu313= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Glu319= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Glu320= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Glu358= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Glu390= Multiple submitters hereditary neoplastic syndrome
  • p.Glu430= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Glu433= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Glu457= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Glu460= Multiple submitters hereditary neoplastic syndrome
  • p.Glu511= Multiple submitters Lynch syndrome 2
  • p.Glu515= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Glu53= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Glu558= Multiple submitters hereditary neoplastic syndrome
  • p.Glu599= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Glu600= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Glu605= Multiple submitters hereditary neoplastic syndrome
  • p.Glu613= Multiple submitters hereditary neoplastic syndrome
  • p.Glu651= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Glu668= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Glu669= Multiple submitters hereditary neoplastic syndrome
  • p.Glu671= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Glu674= Multiple submitters hereditary neoplastic syndrome
  • p.Glu694= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Glu754= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Glu78= Multiple submitters hereditary neoplastic syndrome
  • p.Glu89= Multiple submitters hereditary neoplastic syndrome
  • p.Gly133= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gly232= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gly336= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gly354= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gly357= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gly454= Multiple submitters hereditary neoplastic syndrome
  • p.Gly517= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gly532= Multiple submitters hereditary neoplastic syndrome
  • p.Gly54= Multiple submitters hereditary neoplastic syndrome
  • p.Gly572= Multiple submitters Lynch syndrome 2
  • p.Gly6= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gly606= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gly634= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gly65= Multiple submitters Lynch syndrome 2
  • p.His109= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.His112= Multiple submitters hereditary neoplastic syndrome
  • p.His186= Multiple submitters hereditary neoplastic syndrome
  • p.His289= Multiple submitters hereditary neoplastic syndrome
  • p.His312= Multiple submitters Lynch syndrome 2
  • p.His315= Multiple submitters hereditary neoplastic syndrome
  • p.His318= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.His329= Multiple submitters Lynch syndrome 2
  • p.His381= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.His473= Multiple submitters hereditary neoplastic syndrome
  • p.His718= Multiple submitters hereditary neoplastic syndrome
  • p.His733= Multiple submitters Lynch syndrome 2
  • p.Ile150= Multiple submitters mismatch repair cancer syndrome 1
  • p.Ile19= Multiple submitters hereditary neoplastic syndrome
  • p.Ile190= Multiple submitters hereditary neoplastic syndrome
  • p.Ile298= Multiple submitters Lynch syndrome 2
  • p.Ile36= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ile500= Multiple submitters Lynch syndrome 2
  • p.Ile68= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ile686= Multiple submitters hereditary neoplastic syndrome
  • p.Ile719= Multiple submitters hereditary neoplastic syndrome
  • p.Ile728= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ile740= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ile8= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ile94= Multiple submitters Lynch syndrome 2
  • p.Leu104= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Leu11= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Leu135= Multiple submitters hereditary neoplastic syndrome
  • p.Leu207= Multiple submitters hereditary neoplastic syndrome
  • p.Leu259= Multiple submitters Lynch syndrome 2
  • p.Leu260= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Leu266= Multiple submitters Lynch syndrome 2
  • p.Leu292= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Leu296= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Leu323= Multiple submitters Lynch syndrome 2
  • p.Leu334= Multiple submitters hereditary neoplastic syndrome
  • p.Leu335= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Leu352= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Leu366= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Leu400= Multiple submitters hereditary neoplastic syndrome
  • p.Leu404= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Leu447= Multiple submitters hereditary neoplastic syndrome
  • p.Leu503= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Leu507= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Leu521= Multiple submitters hereditary neoplastic syndrome
  • p.Leu525= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Leu549= Multiple submitters Lynch syndrome 2
  • p.Leu550= Multiple submitters hereditary neoplastic syndrome
  • p.Leu555= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Leu559= Multiple submitters hereditary neoplastic syndrome
  • p.Leu576= Multiple submitters Lynch syndrome 2
  • p.Leu58= Multiple submitters hereditary neoplastic syndrome
  • p.Leu585= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Leu628= Multiple submitters hereditary neoplastic syndrome
  • p.Leu636= Multiple submitters Lynch syndrome 2
  • p.Leu639= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Leu642= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Leu650= Multiple submitters hereditary neoplastic syndrome
  • p.Leu653= Multiple submitters hereditary neoplastic syndrome
  • p.Leu660= Multiple submitters hereditary neoplastic syndrome
  • p.Leu697= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Leu724= Multiple submitters hereditary neoplastic syndrome
  • p.Leu741= Multiple submitters Lynch syndrome 2
  • p.Lys136= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Lys175= Multiple submitters hereditary neoplastic syndrome
  • p.Lys236= Multiple submitters Lynch syndrome 2
  • p.Lys241= Multiple submitters hereditary neoplastic syndrome
  • p.Lys453= Multiple submitters hereditary neoplastic syndrome
  • p.Lys461= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Lys546= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Lys57= Multiple submitters hereditary neoplastic syndrome
  • p.Lys616= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Lys678= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Lys688= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Lys713= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Phe156= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Phe192= Multiple submitters hereditary neoplastic syndrome
  • p.Phe240= Multiple submitters Lynch syndrome 2
  • p.Phe258= Multiple submitters Lynch syndrome 2
  • p.Phe3= Multiple submitters hereditary neoplastic syndrome
  • p.Phe316= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Phe344= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Phe530= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Phe560= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Phe626= Multiple submitters Lynch syndrome 2
  • p.Phe673= Multiple submitters Lynch syndrome 2
  • p.Phe683= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Phe88= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Pro141= Multiple submitters hereditary neoplastic syndrome
  • p.Pro285= Multiple submitters hereditary neoplastic syndrome
  • p.Pro309= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Pro350= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Pro399= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Pro464= Multiple submitters Lynch syndrome
  • p.Pro536= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Pro579= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Pro593= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Pro648= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Pro709= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Pro731= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ser131= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ser191= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ser193= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ser2= Multiple submitters hereditary neoplastic syndrome
  • p.Ser218= Multiple submitters Lynch syndrome 2
  • p.Ser321= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ser365= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ser368= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ser369= Multiple submitters hereditary neoplastic syndrome
  • p.Ser405= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ser421= Multiple submitters Lynch syndrome 2
  • p.Ser456= Multiple submitters hereditary neoplastic syndrome
  • p.Ser46= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ser467= Multiple submitters Lynch syndrome
  • p.Ser505= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ser529= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ser595= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ser627= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ser677= Multiple submitters hereditary neoplastic syndrome
  • p.Ser695= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ser707= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ser711= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ser87= Multiple submitters Hereditary nonpolyposis colorectal neoplasms

Likely benign 914

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

  • c.1038+51C>T Expert panel Lynch syndrome 1
  • c.117-43_117-39del Expert panel Lynch syndrome
  • c.1558+3232_1558+3692delins2 Expert panel Lynch syndrome
  • c.1732-9T>C Expert panel Lynch syndrome
  • c.307-19A>G Expert panel Lynch syndrome
  • c.545+43C>G Expert panel Lynch syndrome
  • c.589-15C>T Expert panel Lynch syndrome
  • c.791-23del Expert panel Lynch syndrome
  • c.885-21TC[2] Expert panel Lynch syndrome
  • c.885-24T>A Expert panel Lynch syndrome
  • c.885-5G>T Expert panel Lynch syndrome
  • c.-107C>G Expert panel Lynch syndrome
  • p.Ala282Gly Expert panel Lynch syndrome ⚠
  • p.Arg325Gln Expert panel Lynch syndrome
  • p.Asn551= Expert panel Lynch syndrome
  • p.Gln146= Expert panel Lynch syndrome
  • p.Gln701Lys Expert panel Lynch syndrome
  • p.Glu234= Expert panel Lynch syndrome
  • p.Gly101= Expert panel Lynch syndrome
  • p.His733Tyr Expert panel Lynch syndrome 1
  • p.Ile655Val Expert panel Lynch syndrome
  • p.Leu607His Expert panel Lynch syndrome
  • p.Lys618Arg Expert panel Lynch syndrome ⚠
  • p.Lys751Arg Expert panel Lynch syndrome ⚠
  • p.Pro581Leu Expert panel Lynch syndrome ⚠
  • p.Pro603Arg Expert panel Lynch syndrome
  • p.Tyr379Cys Expert panel Lynch syndrome ⚠
  • c.1038+16A>G Multiple submitters hereditary neoplastic syndrome
  • c.1038+20A>G Multiple submitters hereditary neoplastic syndrome
  • c.1038+6G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1038+7del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1038+8C>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1038+8C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1039-10T>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1039-13_1039-8del Multiple submitters Lynch syndrome 2
  • c.1039-25T>A Multiple submitters
  • c.1039-28_1039-27insA Multiple submitters hereditary neoplastic syndrome
  • c.1039-29_1039-26del Multiple submitters hereditary neoplastic syndrome
  • c.1039-29del Multiple submitters hereditary neoplastic syndrome
  • c.1039-30_1039-29insTT Multiple submitters hereditary neoplastic syndrome
  • c.1039-31_1039-27del Multiple submitters hereditary neoplastic syndrome
  • c.1039-33_1039-31del Multiple submitters
  • c.1039-35_1039-27del Multiple submitters Hereditary cancer
  • c.1039-4A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1039-52TA[11] Multiple submitters hereditary neoplastic syndrome
  • c.116+10_116+12del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.116+10G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.116+10G>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.116+4C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.116+9G>A Multiple submitters hereditary neoplastic syndrome
  • c.117-14G>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.117-16C>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.117-17T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.117-5G>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.117-6del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.117-9A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1409+6G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1410-14T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1410-15T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1410-17C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1410-4G>A Multiple submitters hereditary neoplastic syndrome
  • c.1410-6T>C Multiple submitters Lynch syndrome
  • c.1410-8C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1558+10C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1558+11G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1558+17G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1558+9A>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1559-20T>C Multiple submitters Lynch syndrome 2
  • c.1559-8T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1559-9G>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1667+13A>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1667+15T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1667+16G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1667+16G>T Multiple submitters hereditary neoplastic syndrome
  • c.1667+17T>G Multiple submitters hereditary neoplastic syndrome
  • c.1667+8A>C Multiple submitters Lynch syndrome 2
  • c.1667+8A>G Multiple submitters Lynch syndrome 2
  • c.1667+9G>T Multiple submitters Lynch syndrome 2
  • c.1668-10T>C Multiple submitters Lynch syndrome 2
  • c.1668-14A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1668-19A>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1668-4del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1668-7T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1668-8A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1668-8A>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1731+14C>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1731+20A>G Multiple submitters hereditary neoplastic syndrome
  • c.1731+7T>C Multiple submitters Lynch syndrome 2
  • c.1732-11C>T Multiple submitters Lynch syndrome 2
  • c.1732-14T>G Multiple submitters hereditary neoplastic syndrome
  • c.1732-152G>C Multiple submitters
  • c.1732-15C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1732-19T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1732-20A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1732-20A>T Multiple submitters Lynch syndrome 2
  • c.1732-42_1732-19del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1732-4C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1732-5C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1896+17T>C Multiple submitters Breast and/or ovarian cancer
  • c.1896+18A>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1896+19T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1896+20A>G Multiple submitters hereditary neoplastic syndrome
  • c.1896+9G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1897-10C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1897-13T>C Multiple submitters Lynch syndrome 2
  • c.1897-145C>G Multiple submitters
  • c.1897-14T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1897-17C>T Multiple submitters hereditary neoplastic syndrome
  • c.1897-18C>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1897-9del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1897-9T>C Multiple submitters hereditary neoplastic syndrome
  • c.1989+14C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1989+16G>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1989+18T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1989+20_1989+22del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1989+20C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1989+37T>C Multiple submitters Lynch syndrome 2
  • c.1990-11C>A Multiple submitters Muir-Torre syndrome
  • c.1990-17G>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1990-20A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1990-93C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.207+11C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.207+19T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.208-11G>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.208-11G>T Multiple submitters Lynch syndrome 2
  • c.208-13T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.208-19T>C Multiple submitters Lynch syndrome 2
  • c.208-6dup Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.208-8T>C Multiple submitters Lynch syndrome 2
  • c.208-9A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.208-9A>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.2103+10_2103+14del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.2103+14G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.2103+17C>T Multiple submitters hereditary neoplastic syndrome
  • c.2103+18A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.2103+8G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.2103+9G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.2103+9G>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.2104-11G>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.2104-14A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.2104-18A>C Multiple submitters Lynch syndrome 2
  • c.2104-20A>C Multiple submitters Lynch syndrome 2
  • c.2104-22T>G Multiple submitters hereditary neoplastic syndrome
  • c.2104-4C>T Multiple submitters Lynch syndrome 2
  • c.306+10A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.306+15C>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.306+8A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.307-14C>A Multiple submitters hereditary neoplastic syndrome
  • c.307-19_307-15del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.307-19A>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.307-4T>A Multiple submitters hereditary neoplastic syndrome
  • c.307-6C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.380+10T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.380+13C>T Multiple submitters hereditary neoplastic syndrome
  • c.380+16C>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.380+17T>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.380+17T>C Multiple submitters hereditary neoplastic syndrome
  • c.380+4T>C Multiple submitters hereditary neoplastic syndrome
  • c.380+7del Multiple submitters Lynch syndrome 2
  • c.381-10T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.381-13_381-12del Multiple submitters Lynch syndrome 2
  • c.381-13A>G Multiple submitters hereditary neoplastic syndrome
  • c.381-14T>C Multiple submitters hereditary neoplastic syndrome
  • c.381-15A>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.381-15A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.381-18G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.381-18G>T Multiple submitters Lynch syndrome 2
  • c.381-43C>G Multiple submitters Lynch syndrome 2
  • c.381-5A>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.381-6C>T Multiple submitters Lynch syndrome 2
  • c.453+11T>C Multiple submitters hereditary neoplastic syndrome
  • c.453+12A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.453+17G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.453+192C>T Multiple submitters
  • c.454-11C>T Multiple submitters hereditary neoplastic syndrome
  • c.454-14A>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.454-14A>G Multiple submitters Lynch syndrome 2
  • c.454-15C>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.454-15C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.454-7T>C Multiple submitters Lynch syndrome 2
  • c.454-8C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.454-9dup Multiple submitters Lynch syndrome 2
  • c.454-9T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.545+7T>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.545+9C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.546-15_546-12del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.546-17_546-16del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.546-17T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.546-18T>C Multiple submitters Lynch syndrome 2
  • c.546-19T>C Multiple submitters Lynch syndrome 2
  • c.546-9C>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.546-9C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.588+14T>G Multiple submitters hereditary neoplastic syndrome
  • c.588+18G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.588+20G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.588+8C>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.589-25G>A Multiple submitters Lynch syndrome 2
  • c.589-7T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.589-8T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.589-9_589-7delinsATC Multiple submitters Lynch syndrome 2
  • c.589-9G>A Multiple submitters hereditary neoplastic syndrome
  • c.589-9G>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.677+10T>C Multiple submitters Lynch syndrome 2
  • c.677+14C>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.677+16A>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.677+17T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.677+20A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.677+7C>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.677+7C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.677+8G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.677+9A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.678-14C>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.678-14C>T Multiple submitters Lynch syndrome 2
  • c.678-15T>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.678-19A>G Multiple submitters Lynch syndrome 2
  • c.678-20C>T Multiple submitters Lynch syndrome 2
  • c.678-9T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.790+10A>C Multiple submitters Lynch syndrome 2
  • c.790+17C>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.790+17dup Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.790+18A>T Multiple submitters hereditary neoplastic syndrome
  • c.791-12T>C Multiple submitters Lynch syndrome
  • c.791-15C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.791-19C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.791-20G>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.791-9A>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.791-9A>G Multiple submitters hereditary neoplastic syndrome
  • c.884+10del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.884+12C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.884+15A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.884+19C>T Multiple submitters hereditary neoplastic syndrome
  • c.884+39G>A Multiple submitters Hereditary cancer
  • c.884+7T>C Multiple submitters Lynch syndrome 2
  • c.884+9G>A Multiple submitters Lynch syndrome 2
  • c.885-12T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.885-13A>G Multiple submitters hereditary neoplastic syndrome
  • c.885-14T>C Multiple submitters Lynch syndrome 2
  • c.885-15T>G Multiple submitters Lynch syndrome
  • c.885-16C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.885-17T>C Multiple submitters Lynch syndrome 2
  • c.885-18_885-15del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.885-20C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.885-26_885-23del Multiple submitters
  • c.885-6T>C Multiple submitters Lynch syndrome 2
  • c.885-7C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.885-8C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.*32C>T Multiple submitters Lynch syndrome 2
  • p.Ala120= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ala125= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ala223= Multiple submitters hereditary neoplastic syndrome
  • p.Ala281= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ala282= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ala424= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ala661= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ala723= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Arg162= Multiple submitters hereditary neoplastic syndrome
  • p.Arg18= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Arg226= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Arg265= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Arg725= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asn209= Multiple submitters hereditary neoplastic syndrome
  • p.Asn263= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asn38= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asn710= Multiple submitters hereditary neoplastic syndrome
  • p.Asp121= Multiple submitters hereditary neoplastic syndrome
  • p.Asp214= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asp394= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asp567= Multiple submitters hereditary neoplastic syndrome
  • p.Gln700= Multiple submitters hereditary neoplastic syndrome
  • p.Glu34= Multiple submitters hereditary neoplastic syndrome
  • p.Glu37= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Glu429= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Glu629= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gly174= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gly449= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gly706= Multiple submitters hereditary neoplastic syndrome
  • p.Ile32= Multiple submitters Lynch syndrome
  • p.Ile47= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ile61= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ile630= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ile643= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Leu177= Multiple submitters hereditary neoplastic syndrome
  • p.Leu434= Multiple submitters hereditary neoplastic syndrome
  • p.Leu676= Multiple submitters hereditary neoplastic syndrome
  • p.Leu85= Multiple submitters hereditary neoplastic syndrome
  • p.Lys333= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Phe99= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Pro208= Multiple submitters hereditary neoplastic syndrome
  • p.Pro355= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Pro437= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Pro496= Multiple submitters hereditary neoplastic syndrome
  • p.Ser211= Multiple submitters hereditary neoplastic syndrome
  • p.Ser252= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ser339= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ser370= Multiple submitters hereditary neoplastic syndrome
  • p.Ser375= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ser401= Multiple submitters hereditary neoplastic syndrome
  • p.Ser44= Multiple submitters Lynch syndrome
  • p.Ser692= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ser726= Multiple submitters hereditary neoplastic syndrome

Uncertain significance 2067

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

  • c.1731+6T>G Expert panel Lynch syndrome
  • c.306+4A>G Expert panel Lynch syndrome
  • p.Ala608Asp Expert panel Lynch syndrome 1 ⚠
  • p.Cys39Phe Expert panel Lynch syndrome 1 ⚠
  • p.Cys39Tyr Expert panel Lynch syndrome 1 ⚠
  • p.Gln701= Expert panel Lynch syndrome 1
  • p.Glu102= Expert panel Lynch syndrome 1
  • p.Glu663Ala Expert panel Lynch syndrome 1 ⚠
  • p.Leu559Arg Expert panel Lynch syndrome 1 ⚠
  • p.Ser295Thr Expert panel Lynch syndrome ⚠
  • p.Ter757Lys Expert panel Lynch syndrome
  • p.Trp538Gly Expert panel Lynch syndrome ⚠
  • c.1038+4A>C Multiple submitters hereditary neoplastic syndrome
  • c.1038+4A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1038+5G>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1039-5T>A Multiple submitters hereditary breast carcinoma
  • c.116+3A>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1409+3A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1409+3A>T Multiple submitters hereditary neoplastic syndrome
  • c.1409+4T>C Multiple submitters hereditary neoplastic syndrome
  • c.1410-3C>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1410-5T>A Multiple submitters hereditary neoplastic syndrome
  • c.1558+5G>C Multiple submitters hereditary neoplastic syndrome
  • c.1731+6T>C Multiple submitters hereditary neoplastic syndrome
  • c.1732_1734delGAG Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1732-13T>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1897-3C>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1897-9T>A Multiple submitters hereditary neoplastic syndrome
  • c.1989+4A>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1990-7G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.207+3A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.207+4A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.2103+4C>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.2104-10T>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.380+3A>G Multiple submitters hereditary neoplastic syndrome
  • c.380+4_380+5del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.380+6G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.454-3C>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.454-3del Multiple submitters hereditary neoplastic syndrome
  • c.454-8C>G Multiple submitters hereditary neoplastic syndrome
  • c.545+4C>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.545+4C>T Multiple submitters hereditary neoplastic syndrome
  • c.589-17T>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.589-3C>G Multiple submitters hereditary neoplastic syndrome
  • c.678-3T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.678-4A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.790+4A>T Multiple submitters Lynch syndrome
  • c.-11C>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.-11C>G Multiple submitters hereditary neoplastic syndrome
  • c.-20T>C Multiple submitters hereditary neoplastic syndrome
  • c.-27C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.-2A>C Multiple submitters hereditary neoplastic syndrome
  • c.-42C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.-43C>T Multiple submitters hereditary neoplastic syndrome
  • c.-4C>T Multiple submitters hereditary neoplastic syndrome
  • c.-5C>T Multiple submitters hereditary neoplastic syndrome
  • c.-6G>A Multiple submitters Lynch syndrome
  • p.Ala103Pro Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala103Thr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala105Ser Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala105Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala120Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala125Ser Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala125Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala125Val Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala128Gly Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala128Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala137Gly Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala137Thr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala137Val Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala143Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala143Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala143Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala160Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala188Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala202Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala20Val Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala210Asp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala210Pro Multiple submitters Lynch syndrome ⚠
  • p.Ala223Gly Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala223Val Multiple submitters Lynch syndrome 2 ⚠
  • p.Ala275Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala281Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala281Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala282Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala29Asp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala29Pro Multiple submitters mismatch repair cancer syndrome 1 ⚠
  • p.Ala31Thr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala353Thr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala380Thr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala380Val Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala395Ser Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala395Thr Multiple submitters Lynch syndrome ⚠
  • p.Ala395Val Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala410Val Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala424Gly Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala424Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala42Gly Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala438Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala442Gly Multiple submitters Lynch syndrome 2 ⚠
  • p.Ala442Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala442Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala492Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala493Val Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala539Ser Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala541Leu Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ala541Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala586Val Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala589Phe Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ala589Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala589Thr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala5Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala619Asp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala619Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala623Val Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala723Thr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala723Val Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala744Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala744Val Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala92Val Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg100Gln Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg100Leu Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg10Gln Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg10Gly Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg10Leu Multiple submitters hereditary breast ovarian cancer syndrome ⚠
  • p.Arg10Trp Multiple submitters Lynch syndrome 2 ⚠
  • p.Arg127Gly Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg162Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg163del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Arg163Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg18Gly Multiple submitters Lynch syndrome ⚠
  • p.Arg18His Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg18Pro Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg205Lys Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg217Ser Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg265Leu Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg27Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg325Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg341Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg385Leu Multiple submitters Lynch syndrome ⚠
  • p.Arg389Gly Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg425Met Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg425Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg470Gly Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg472_His473delinsSerAsn Multiple submitters hereditary neoplastic syndrome
  • p.Arg472Thr Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Arg487Ile Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Arg487Leu Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg498Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg498Lys Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg499Met Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg499Ser Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg522Gly Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg575Gly Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg575Met Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg575Thr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg69Thr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg725Ser Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg79Gly Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg79Lys Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg79Met Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg79Ser Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg79Thr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg9Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg9Gly Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg9His Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Arg9Trp Multiple submitters Lynch syndrome 2 ⚠
  • p.Asn145Asp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn145Ser Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asn158His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn168Ile Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asn168Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn17Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn187Asp Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asn187Ser Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asn209Thr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asn215Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn222Lys Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asn243Ile Multiple submitters Lynch syndrome ⚠
  • p.Asn243Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn248Ser Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asn250Asp Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asn250His Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asn263Ser Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asn263Thr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asn287Lys Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asn302His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn306Ile Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn30Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn338His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn338Ile Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asn444Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn468Ser Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asn514Lys Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asn527Asp Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asn645Lys Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asn645Ser Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asn64Tyr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asn665Asp Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asn710Lys Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asn739Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn745Asp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp121His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp121Val Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp12Asn Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp12Glu Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp132Gly Multiple submitters Lynch syndrome ⚠
  • p.Asp154Asn Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp154Glu Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp203His Multiple submitters Lynch syndrome ⚠
  • p.Asp203Tyr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp214Asn Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp235Glu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp235Gly Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp304Ala Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp304Asn Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp376Val Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp387Asn Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp387Gly Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp394Asn Multiple submitters hereditary neoplastic syndrome
  • p.Asp394Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp394Tyr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp415Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp418Asn Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp418Gly Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp418Tyr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp428Asn Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp428Glu Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp450Asn Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp476Asn Multiple submitters ⚠
  • p.Asp476Glu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp478Gly Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp478Tyr Multiple submitters Lynch syndrome ⚠
  • p.Asp478Val Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp484Tyr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp485Gly Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp567Tyr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp584Tyr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp591Gly Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp591His Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp601Asn Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp601Gly Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp601Tyr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp631Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp644Val Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp72Asn Multiple submitters Lynch syndrome 2 ⚠
  • p.Asp72Gly Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp737Asn Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp737Gly Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp748Asn Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp748Glu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp74Asn Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp90Asn Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Cys124Ser Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Cys142Arg Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Cys142Ser Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Cys142Trp Multiple submitters Lynch syndrome ⚠
  • p.Cys233Ser Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Cys256Tyr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Cys494Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Cys494Tyr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Cys533Ser Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Cys533Tyr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Cys672Ser Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Cys756Gly Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Cys77Gly Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Gln146Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gln149His Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Gln197= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gln26Arg Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Gln26His Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Gln26Pro Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Gln301Glu Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Gln327Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gln328Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gln346Glu Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Gln382Arg Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Gln391Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gln398Glu Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Gln409Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gln409Glu Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Gln48Glu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gln48His Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Gln516Glu Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Gln516Pro Multiple submitters Lynch syndrome ⚠
  • p.Gln537Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gln542Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gln544His Multiple submitters Lynch syndrome 2 ⚠
  • p.Gln62Arg Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Gln689His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gln689Lys Multiple submitters Lynch syndrome 2 ⚠
  • p.Gln86Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gln86Glu Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Glu13Gln Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Glu13Gly Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Glu153Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu153Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu171Asp Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Glu171Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu178Gln Multiple submitters hereditary neoplastic syndrome