Sugi Variant

Sugi Variant/PMS2

PMS2 — 5349 ClinVar variants

All ClinVar germline PMS2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 2677 flagged for review →

534 Pathogenic · 149 Pathogenic/Likely pathogenic · 137 Likely pathogenic · 524 Conflicting · 124 Benign · 412 Benign/Likely benign · 808 Likely benign · 2661 Uncertain significance

Full PMS2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 2677

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

Predictors vs ClinVar 2

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

Predictors agree, ClinVar conflicts 337

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification. · showing the 150 best-reviewed of 337

Predicted LoF vs a conflicting call 12

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 1917

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 1917

Predictors split 409

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 409

All PMS2 variants

Pathogenic 534

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

  • c.1145-1350_*20545del Expert panel Lynch syndrome
  • c.1145-?_2174+?del Expert panel Lynch syndrome
  • c.164-518_803+252delinsCG Expert panel Lynch syndrome
  • c.2174+1G>A Expert panel Lynch syndrome
  • c.2276-113_2445+1596del Expert panel Lynch syndrome
  • c.2276-91_2445+790del Expert panel Lynch syndrome
  • c.24-12_107delinsAAAT Expert panel Lynch syndrome
  • c.24-?_163+?del Expert panel Lynch syndrome
  • c.354-?_803+?del Expert panel Lynch syndrome
  • c.354-?_(*160_? Expert panel Lynch syndrome
  • c.538-478_705+456del Expert panel Lynch syndrome
  • c.706-?_803+?del Expert panel Lynch syndrome
  • c.804-?_2006+?del Expert panel Lynch syndrome
  • c.804-60_804-59insJN866832.1 Expert panel Lynch syndrome
  • c.804-?_903+?del Expert panel Lynch syndrome
  • c.904-?_1144+?del Expert panel Lynch syndrome
  • c.904-?_988+?del Expert panel Lynch syndrome
  • c.904-?_(*160_? Expert panel Lynch syndrome
  • c.989-296_1144+706del Expert panel Lynch syndrome
  • c.989-?_(*160_? Expert panel Lynch syndrome
  • c.(?_-87 Expert panel Lynch syndrome
  • p.Arg134Ter Expert panel Lynch syndrome
  • p.Arg315Ter Expert panel Lynch syndrome
  • p.Arg421Ter Expert panel Lynch syndrome
  • p.Arg578fs Expert panel Lynch syndrome
  • p.Arg628Ter Expert panel Lynch syndrome
  • p.Arg802Ter Expert panel Lynch syndrome
  • p.Asn383Aspfs*7 Expert panel Lynch syndrome
  • p.Gln233Ter Expert panel Lynch syndrome
  • p.Gln235Ter Expert panel Lynch syndrome
  • p.Gln317Ter Expert panel Lynch syndrome
  • p.Gln643Ter Expert panel Lynch syndrome
  • p.Glu180_Tyr181insTer Expert panel Lynch syndrome
  • p.Gly74fs Expert panel Lynch syndrome
  • p.Ile590fs Expert panel Lynch syndrome
  • p.Leu359fs Expert panel Lynch syndrome
  • p.Leu731fs Expert panel Lynch syndrome
  • p.Lys580Ter Expert panel Lynch syndrome
  • p.Lys614Ter Expert panel Lynch syndrome
  • p.Lys647Ter Expert panel Lynch syndrome
  • p.Lys748fs Expert panel Lynch syndrome
  • p.Phe788fs Expert panel Lynch syndrome
  • p.Ser436fs Expert panel Lynch syndrome
  • p.Tyr268fs Expert panel Lynch syndrome
  • c.2007-2A>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.989-1G>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.? Multiple submitters hereditary neoplastic syndrome
  • p.Ala116fs Multiple submitters hereditary neoplastic syndrome
  • p.Ala12fs Multiple submitters Lynch syndrome 4
  • p.Ala737fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Arg151fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Arg199_Val200insTer Multiple submitters hereditary neoplastic syndrome
  • p.Arg211fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Arg211Ter Multiple submitters PMS2-related disorder
  • p.Arg287fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Arg563fs Multiple submitters Lynch syndrome 4
  • p.Arg563Ter Multiple submitters Lynch syndrome 4
  • p.Arg628_Ile629insTer Multiple submitters hereditary neoplastic syndrome
  • p.Arg646fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Arg747Ter Multiple submitters Lynch syndrome
  • p.Arg764fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asn226fs Multiple submitters Inherited MMR deficiency (Lynch syndrome)
  • p.Asn293fs Multiple submitters Lynch syndrome 4
  • p.Asn45fs Multiple submitters Lynch syndrome 4
  • p.Asn570fs Multiple submitters hereditary neoplastic syndrome
  • p.Asn575fs Multiple submitters hereditary neoplastic syndrome
  • p.Asn644fs Multiple submitters Lynch syndrome 4
  • p.Asn708fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asn71fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asn775fs Multiple submitters hereditary neoplastic syndrome
  • p.Asp286fs Multiple submitters hereditary nonpolyposis colon cancer
  • p.Asp414fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asp414Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asp48fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asp526fs Multiple submitters Lynch syndrome 4
  • p.Asp619fs Multiple submitters Lynch syndrome 4
  • p.Cys276Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Cys591fs Multiple submitters Lynch syndrome 4
  • p.Cys653fs Multiple submitters hereditary neoplastic syndrome
  • p.Gln100Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln145Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln160Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln161Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gln186Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gln208Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln212Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gln25Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln275Ter Multiple submitters mismatch repair cancer syndrome 4
  • p.Gln288Ter Multiple submitters Lynch syndrome 4
  • p.Gln30Ter Multiple submitters mismatch repair cancer syndrome 4
  • p.Gln346Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln375Ter Multiple submitters Lynch syndrome 4
  • p.Gln400fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gln400Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gln402fs Multiple submitters hereditary neoplastic syndrome
  • p.Gln449Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gln471Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gln536fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gln567Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gln598Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gln631Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln638Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln658Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gln681Ter Multiple submitters Lynch syndrome 4
  • p.Gln714Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gln719fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gln719Ter Multiple submitters hereditary nonpolyposis colon cancer
  • p.Gln721Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gln727Ter Multiple submitters Lynch syndrome 4
  • p.Gln781fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gln781Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gln805Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Glu109fs Multiple submitters mismatch repair cancer syndrome 4
  • p.Glu172Ter Multiple submitters hereditary neoplastic syndrome
  • p.Glu253Ter Multiple submitters Inherited MMR deficiency (Lynch syndrome)
  • p.Glu2Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Glu308fs Multiple submitters hereditary neoplastic syndrome
  • p.Glu393Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Glu41fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Glu41Ter Multiple submitters hereditary nonpolyposis colon cancer
  • p.Glu44fs Multiple submitters Lynch syndrome 4
  • p.Glu491fs Multiple submitters hereditary neoplastic syndrome
  • p.Glu518fs Multiple submitters hereditary neoplastic syndrome
  • p.Glu531Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Glu661Ter Multiple submitters hereditary nonpolyposis colon cancer
  • p.Glu663Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Glu757Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Glu785Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Glu78fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Glu78Ter Multiple submitters hereditary neoplastic syndrome
  • p.Glu81Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gly256fs Multiple submitters hereditary neoplastic syndrome
  • p.Gly528fs Multiple submitters Lynch syndrome 4
  • p.Gly74_Val75insTer Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gly750fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.His170fs Multiple submitters hereditary neoplastic syndrome
  • p.His316fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.His388fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.His839fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.His88fs Multiple submitters hereditary neoplastic syndrome
  • p.Ile15fs Multiple submitters Lynch syndrome 4
  • p.Ile18fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ile385fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Leu351fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Leu384fs Multiple submitters hereditary neoplastic syndrome
  • p.Leu406Ter Multiple submitters hereditary neoplastic syndrome
  • p.Leu426fs Multiple submitters Lynch syndrome 4
  • p.Leu565fs Multiple submitters hereditary neoplastic syndrome
  • p.Leu625_Ala626delinsTer Multiple submitters Lynch syndrome 4
  • p.Leu632Ter Multiple submitters hereditary neoplastic syndrome
  • p.Leu731Ter Multiple submitters hereditary neoplastic syndrome
  • p.Lys130delinsCysAsnSerSerProLysCysLeuTer Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Lys171fs Multiple submitters hereditary neoplastic syndrome
  • p.Lys356fs Multiple submitters mismatch repair cancer syndrome 4
  • p.Lys386fs Multiple submitters hereditary neoplastic syndrome
  • p.Lys394fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Lys433Ter Multiple submitters PMS2-related disorder
  • p.Lys57_Leu58insTer Multiple submitters hereditary neoplastic syndrome
  • p.Lys59fs Multiple submitters hereditary neoplastic syndrome
  • p.Lys706fs Multiple submitters hereditary nonpolyposis colon cancer
  • p.Lys766Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Lys774Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Lys91Ter Multiple submitters hereditary neoplastic syndrome
  • p.Met1Ile Multiple submitters hereditary neoplastic syndrome
  • p.Met1Thr Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Met396fs Multiple submitters hereditary neoplastic syndrome
  • p.Met453fs Multiple submitters Lynch syndrome 4
  • p.Met672fs Multiple submitters Lynch syndrome 4
  • p.Phe104fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Phe242fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Phe290fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Phe506fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Phe579fs Multiple submitters hereditary neoplastic syndrome
  • p.Phe80fs Multiple submitters hereditary neoplastic syndrome
  • p.Pro246fs Multiple submitters Lynch syndrome 4
  • p.Pro247_Ser248insTer Multiple submitters hereditary neoplastic syndrome
  • p.Pro247fs Multiple submitters hereditary neoplastic syndrome
  • p.Pro800fs Multiple submitters hereditary neoplastic syndrome
  • p.Ser118fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ser123fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ser128Ter Multiple submitters Lynch syndrome 4
  • p.Ser195Ter Multiple submitters Inherited MMR deficiency (Lynch syndrome)
  • p.Ser222fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ser229fs Multiple submitters hereditary neoplastic syndrome
  • p.Ser22Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ser238fs Multiple submitters hereditary neoplastic syndrome
  • p.Ser250fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ser274Ter Multiple submitters hereditary neoplastic syndrome
  • p.Ser284Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ser373fs Multiple submitters Lynch syndrome 4
  • p.Ser459Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ser46fs Multiple submitters Lynch syndrome 4
  • p.Ser498fs Multiple submitters hereditary neoplastic syndrome
  • p.Ser513fs Multiple submitters Lynch syndrome 4
  • p.Ser586fs Multiple submitters hereditary neoplastic syndrome
  • p.Ser621_Met622insTer Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ser621fs Multiple submitters hereditary neoplastic syndrome
  • p.Ser624_Leu625insTer Multiple submitters hereditary nonpolyposis colon cancer
  • p.Ser639fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ser69fs Multiple submitters hereditary neoplastic syndrome
  • p.Ser69Ter Multiple submitters hereditary nonpolyposis colon cancer
  • p.Ser90fs Multiple submitters hereditary neoplastic syndrome
  • p.Thr156fs Multiple submitters Lynch syndrome 4
  • p.Thr277fs Multiple submitters Lynch syndrome
  • p.Thr337fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Thr357fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Thr511fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Thr820fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Thr84fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Tyr149fs Multiple submitters hereditary neoplastic syndrome
  • p.Tyr181Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Tyr255Ter Multiple submitters hereditary neoplastic syndrome
  • p.Tyr519Ter Multiple submitters hereditary neoplastic syndrome
  • p.Tyr645fs Multiple submitters Lynch syndrome 4
  • p.Tyr645Ter Multiple submitters mismatch repair cancer syndrome 4
  • p.Val354_Leu355insTer Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Val501fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Val761fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1145-1_2006+1del Single submitter mismatch repair cancer syndrome 4
  • c.164-?_2006+?del Single submitter Lynch syndrome
  • c.164-31_804-503del Single submitter
  • c.2174+1133_*93del Single submitter
  • c.2174+2T>G Single submitter hereditary neoplastic syndrome
  • c.2175-1337_2445+1del Single submitter Lynch syndrome 4
  • c.2276-1_2445+1del Single submitter Lynch syndrome
  • c.2276-?_2445+?del Single submitter Lynch syndrome
  • c.2276-?_*160+?del Single submitter Lynch syndrome
  • c.(23+1_24-1 Single submitter Lynch syndrome
  • c.2357_2445+509del Single submitter Lynch syndrome 4
  • c.2357_2445+510del Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.24-2A>C Single submitter mismatch repair cancer syndrome 1
  • c.2446-171_*1del Single submitter Lynch syndrome 4
  • c.2448_2449insTCTCATTGTGTCTCACACTCATTGTGTCTCACACTCAGGTG Single submitter hereditary neoplastic syndrome
  • c.250+1G>A Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.354_988del Single submitter
  • c.537+1G>T Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.538-1_903+1del Single submitter mismatch repair cancer syndrome 1
  • c.538-252_803+326del Single submitter
  • c.538-?_903+?del Single submitter Lynch syndrome
  • c.705+1685_790del Single submitter Lynch syndrome 4
  • c.(803+1_804-1 Single submitter hereditary nonpolyposis colon cancer
  • c.803+2T>A Single submitter hereditary neoplastic syndrome
  • c.804-60_804-59insSVA Single submitter hereditary neoplastic syndrome
  • c.804-70_2445+71del Single submitter Lynch syndrome 4
  • c.904_911delGTCTGCAG Single submitter hereditary neoplastic syndrome
  • c.904-10_*10del Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.906_1144+2del Single submitter Lynch syndrome
  • c.989-?_1144+?del Single submitter Lynch syndrome
  • c.(?_989-5 Single submitter Lynch syndrome
  • c.(?-1 Single submitter hereditary neoplastic syndrome
  • c.-87_537+?del Single submitter Lynch syndrome
  • p.Ala110fs Single submitter hereditary neoplastic syndrome
  • p.Ala51fs Single submitter Lynch syndrome 4
  • p.Ala520fs Single submitter Hereditary nonpolyposis colorectal neoplasms
  • p.Ala626fs Single submitter Lynch syndrome 4
  • p.Ala650fs Single submitter hereditary neoplastic syndrome
  • p.Ala733fs Single submitter hereditary neoplastic syndrome
  • p.Ala765fs Single submitter Lynch syndrome 4
  • p.Ala96fs Single submitter hereditary neoplastic syndrome
  • p.Arg107fs Single submitter hereditary neoplastic syndrome
  • p.Arg153Ter Single submitter Hereditary nonpolyposis colorectal neoplasms
  • p.Arg199fs Single submitter hereditary neoplastic syndrome
  • p.Arg287Ter Single submitter hereditary neoplastic syndrome
  • p.Arg304fs Single submitter hereditary neoplastic syndrome
  • p.Arg341fs Single submitter hereditary neoplastic syndrome
  • p.Arg444fs Single submitter Lynch syndrome 4
  • p.Arg578delinsGlnIleGlyArgAlaSerCysArgGluArgValTer Single submitter hereditary nonpolyposis colon cancer
  • p.Arg799fs Single submitter Lynch syndrome 4
  • p.Asn176fs Single submitter Lynch syndrome 4
  • p.Asn324fs Single submitter Lynch syndrome 4
  • p.Asn371fs Single submitter Lynch syndrome 4
  • p.Asn383fs Single submitter hereditary neoplastic syndrome
  • p.Asn432fs Single submitter Lynch syndrome 4
  • p.Asn612fs Single submitter hereditary neoplastic syndrome
  • p.Asn657fs Single submitter hereditary neoplastic syndrome
  • p.Asn742fs Single submitter hereditary neoplastic syndrome
  • p.Asn758fs Single submitter hereditary neoplastic syndrome
  • p.Asn775_Trp776delinsSerTer Single submitter Hereditary nonpolyposis colorectal neoplasms
  • p.Asp119_Val120insSerTer Single submitter hereditary neoplastic syndrome
  • p.Asp261fs Single submitter Lynch syndrome 4
  • p.Asp298fs Single submitter hereditary neoplastic syndrome
  • p.Asp401fs Single submitter hereditary neoplastic syndrome
  • p.Asp486fs Single submitter hereditary neoplastic syndrome
  • p.Asp606fs Single submitter hereditary neoplastic syndrome
  • p.Asp60fs Single submitter Hereditary nonpolyposis colorectal neoplasms
  • p.Asp662fs Single submitter Lynch syndrome 4
  • p.Asp70fs Single submitter hereditary neoplastic syndrome
  • p.Cys115fs Single submitter hereditary neoplastic syndrome
  • p.Cys216Ter Single submitter Hereditary nonpolyposis colorectal neoplasms
  • p.Cys27Ter Single submitter hereditary neoplastic syndrome
  • p.Cys303Ter Single submitter Lynch syndrome 4
  • p.Cys515Ter Single submitter Lynch syndrome 4
  • p.Cys560fs Single submitter hereditary neoplastic syndrome
  • p.Cys653Ter Single submitter Hereditary nonpolyposis colorectal neoplasms
  • p.Cys812fs Single submitter hereditary neoplastic syndrome
  • p.Cys843_Gly846delinsTer Single submitter Lynch syndrome 4
  • p.Gln186fs Single submitter hereditary neoplastic syndrome
  • p.Gln237fs Single submitter hereditary neoplastic syndrome
  • p.Gln244fs Single submitter Hereditary nonpolyposis colorectal neoplasms
  • p.Gln30fs Single submitter hereditary neoplastic syndrome

Pathogenic/Likely pathogenic 149

  • c.1144+1del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1144+1G>A Multiple submitters mismatch repair cancer syndrome 4
  • c.1144+1G>C Multiple submitters hereditary nonpolyposis colon cancer
  • c.1144+1G>T Multiple submitters Lynch syndrome 4
  • c.1144+2T>G Multiple submitters hereditary neoplastic syndrome
  • c.163+1G>A Multiple submitters hereditary neoplastic syndrome
  • c.163+1G>T Multiple submitters hereditary neoplastic syndrome
  • c.164-1G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.164-1G>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.2007-1G>C Multiple submitters hereditary neoplastic syndrome
  • c.2007-2A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.2174+1G>C Multiple submitters Lynch syndrome 4
  • c.2174+1G>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.2275+1G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.2275+1G>C Multiple submitters hereditary neoplastic syndrome
  • c.2275+1G>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.2275+2T>C Multiple submitters Lynch syndrome 4
  • c.23+1G>T Multiple submitters mismatch repair cancer syndrome 4
  • c.24-1G>A Multiple submitters hereditary neoplastic syndrome
  • c.2445+1G>A Multiple submitters hereditary neoplastic syndrome
  • c.2445+1G>T Multiple submitters PMS2-related disorder
  • c.2446-1G>A Multiple submitters hereditary neoplastic syndrome
  • c.250+1G>C Multiple submitters hereditary neoplastic syndrome
  • c.251-1G>A Multiple submitters hereditary neoplastic syndrome
  • c.251-1G>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.251-1G>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.251-2A>C Multiple submitters polyp of colon
  • c.251-2A>T Multiple submitters Inherited MMR deficiency (Lynch syndrome)
  • c.353+2T>C Multiple submitters Lynch syndrome
  • c.354-1G>A Multiple submitters hereditary neoplastic syndrome
  • c.354-2A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.537+1del Multiple submitters Lynch syndrome 4
  • c.537+1G>A Multiple submitters mismatch repair cancer syndrome 4
  • c.538-1G>A Multiple submitters hereditary neoplastic syndrome
  • c.538-1G>C Multiple submitters hereditary neoplastic syndrome
  • c.538-2A>C Multiple submitters mismatch repair cancer syndrome 4
  • c.538-2A>G Multiple submitters hereditary neoplastic syndrome
  • c.705+1G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.705+2T>C Multiple submitters hereditary neoplastic syndrome
  • c.790_803+5del Multiple submitters hereditary neoplastic syndrome
  • c.803+1G>T Multiple submitters hereditary neoplastic syndrome
  • c.803+2T>G Multiple submitters hereditary neoplastic syndrome
  • c.803+5G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.804-10T>G Multiple submitters Lynch syndrome 4
  • c.804-1G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.804-1G>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.804-2A>G Multiple submitters Lynch syndrome 4
  • c.903+1G>C Multiple submitters hereditary neoplastic syndrome
  • c.904-2A>G Multiple submitters PMS2-related disorder
  • c.988+1G>C Multiple submitters hereditary neoplastic syndrome
  • c.989-1G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Arg107Trp Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Arg153fs Multiple submitters Lynch syndrome 4
  • p.Arg169fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Arg3Ter Multiple submitters hereditary neoplastic syndrome
  • p.Arg419fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Arg527fs Multiple submitters Lynch syndrome 4
  • p.Arg813fs Multiple submitters hereditary neoplastic syndrome
  • p.Asp249fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asp55delinsAsnTer Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asp699His Multiple submitters hereditary nonpolyposis colon cancer
  • p.Cys125Ter Multiple submitters Lynch syndrome 4
  • p.Cys216fs Multiple submitters Lynch syndrome 4
  • p.Cys252_Glu253delinsTer Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Cys27fs Multiple submitters hereditary neoplastic syndrome
  • p.Cys331Ter Multiple submitters mismatch repair cancer syndrome 4
  • p.Cys551Ter Multiple submitters Lynch syndrome
  • p.Gln174Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln205Ter Multiple submitters mismatch repair cancer syndrome 4
  • p.Gln237Ter Multiple submitters Lynch syndrome 4
  • p.Gln244Ter Multiple submitters Lynch syndrome 4
  • p.Gln275= Multiple submitters hereditary nonpolyposis colon cancer
  • p.Gln374fs Multiple submitters hereditary neoplastic syndrome
  • p.Gln374Ter Multiple submitters Lynch syndrome 4
  • p.Gln402Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln530fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gln530Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln536Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gln604Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln637Ter Multiple submitters Lynch syndrome
  • p.Gln638fs Multiple submitters mismatch repair cancer syndrome 4
  • p.Gln713Ter Multiple submitters hereditary neoplastic syndrome
  • p.Glu102Ter Multiple submitters Lynch syndrome
  • p.Glu109Ter Multiple submitters hereditary neoplastic syndrome
  • p.Glu180Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Glu411Ter Multiple submitters hereditary neoplastic syndrome
  • p.Glu473fs Multiple submitters hereditary neoplastic syndrome
  • p.Glu491Ter Multiple submitters hereditary neoplastic syndrome
  • p.Glu518Ter Multiple submitters hereditary neoplastic syndrome
  • p.Glu640Ter Multiple submitters hereditary neoplastic syndrome
  • p.Glu642fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Glu677Ter Multiple submitters hereditary neoplastic syndrome
  • p.Glu705Lys Multiple submitters hereditary nonpolyposis colon cancer
  • p.Glu836fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Glu836Ter Multiple submitters hereditary nonpolyposis colon cancer
  • p.Gly219Ter Multiple submitters PMS2-related disorder
  • p.Gly271Asp Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gly281Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gly382Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly497fs Multiple submitters Lynch syndrome
  • p.Gly525fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gly559Ter Multiple submitters Lynch syndrome
  • p.Gly72fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gly72Ter Multiple submitters Lynch syndrome 4
  • p.Gly846Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.His428fs Multiple submitters Lynch syndrome 4
  • p.His845Asp Multiple submitters Lynch syndrome 4
  • p.Ile668Val Multiple submitters PMS2-related disorder ⚠
  • p.Leu162Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Leu384Ter Multiple submitters hereditary neoplastic syndrome
  • p.Leu42_Glu44del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Leu47fs Multiple submitters Lynch syndrome 4
  • p.Leu83Ter Multiple submitters hereditary neoplastic syndrome
  • p.Lys179Ter Multiple submitters Lynch syndrome 4
  • p.Lys301= Multiple submitters hereditary nonpolyposis colon cancer
  • p.Lys340fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Lys450Ter Multiple submitters hereditary neoplastic syndrome
  • p.Lys472Ter Multiple submitters hereditary neoplastic syndrome
  • p.Lys593fs Multiple submitters Lynch syndrome 4
  • p.Lys630fs Multiple submitters Lynch syndrome 4
  • p.Lys647fs Multiple submitters hereditary nonpolyposis colon cancer
  • p.Lys91fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Met1Arg Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Met1Leu Multiple submitters hereditary neoplastic syndrome
  • p.Met1Lys Multiple submitters hereditary nonpolyposis colon cancer
  • p.Met834fs Multiple submitters Inherited MMR deficiency (Lynch syndrome)
  • p.Phe291fs Multiple submitters hereditary nonpolyposis colon cancer
  • p.Phe320fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Phe620fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Pro574fs Multiple submitters Lynch syndrome 4
  • p.Pro844His Multiple submitters hereditary nonpolyposis colon cancer
  • p.Ser118Asn Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ser283_Ser284insTer Multiple submitters Lynch syndrome
  • p.Ser456fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ser46Asn Multiple submitters PMS2-related disorder
  • p.Ser545fs Multiple submitters hereditary neoplastic syndrome
  • p.Ser547fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ser601Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ser7Ter Multiple submitters PMS2-related disorder
  • p.Ser801fs Multiple submitters hereditary neoplastic syndrome
  • p.Ser815Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Thr429fs Multiple submitters Lynch syndrome 4
  • p.Thr52_Asn53insTer Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Trp841fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Tyr191Ter Multiple submitters Lynch syndrome 4
  • p.Tyr313Ter Multiple submitters hereditary neoplastic syndrome
  • p.Val39fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Val68fs Multiple submitters PMS2-related disorder
  • p.Val816fs Multiple submitters Lynch syndrome 4

Likely pathogenic 137

Conflicting classifications of pathogenicity 524

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

  • c.1144+3A>T Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.1144+5G>C Single submitter hereditary neoplastic syndrome
  • c.1145-10G>A Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.1145-31_1145-13del Single submitter Constitutional mismatch repair deficiency syndrome
  • c.1145-5C>A Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.1145-5C>T Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.1145-8T>G Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.164-10A>G Single submitter Lynch syndrome 4
  • c.164-11A>T Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.164-13_164-12del Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.164-4C>A Single submitter hereditary neoplastic syndrome
  • c.164-4C>G Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.164-5T>C Single submitter hereditary neoplastic syndrome
  • c.2006+20C>G Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.2006+5del Single submitter hereditary neoplastic syndrome
  • c.2007-2_2007-1delinsCA Single submitter hereditary nonpolyposis colon cancer ⚠
  • c.2007-3C>T Single submitter hereditary neoplastic syndrome
  • c.2007-6C>G Single submitter mismatch repair cancer syndrome 4
  • c.2174+6T>C Single submitter Lynch syndrome 4
  • c.2175-3C>T Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.2175-5T>C Single submitter Lynch syndrome 4
  • c.2275+9_2275+11delinsGAACTTACC Single submitter Lynch syndrome 4
  • c.2276-10A>G Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.2276-17A>G Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.2276-3T>C Single submitter hereditary neoplastic syndrome
  • c.23+6C>A Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.23+7G>C Single submitter mismatch repair cancer syndrome 4
  • c.24-3T>C Single submitter hereditary neoplastic syndrome
  • c.24-4C>T Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.24-6C>A Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.2445+1G>C Single submitter hereditary nonpolyposis colon cancer ⚠
  • c.2446-10T>G Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.2446-16T>C Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.2446-5_2446-2del Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • c.250+4A>C Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.250+4A>G Single submitter Lynch syndrome 4
  • c.250+6T>G Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.251-11CT[2] Single submitter hereditary neoplastic syndrome
  • c.251-18C>G Single submitter hereditary neoplastic syndrome
  • c.251-7C>G Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.251-9C>G Single submitter hereditary neoplastic syndrome
  • c.353+15T>G Single submitter hereditary neoplastic syndrome
  • c.353+1G>A Single submitter Lynch syndrome 4 ⚠
  • c.353+3G>A Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.353+4del Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.353+6A>G Single submitter mismatch repair cancer syndrome 4
  • c.353+7C>T Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.354-12A>G Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.354-3C>T Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.354-5C>A Single submitter hereditary neoplastic syndrome
  • c.354-5C>G Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.354-5C>T Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.354-7C>T Single submitter Breast and/or ovarian cancer
  • c.537+2T>C Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • c.537+4C>G Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.537+4C>T Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.537+5A>G Single submitter hereditary neoplastic syndrome
  • c.537+6G>A Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.538-12T>G Single submitter Lynch syndrome
  • c.538-14T>C Single submitter Lynch syndrome 4
  • c.538-16T>G Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.538-8T>C Single submitter Lynch syndrome 4
  • c.706-11T>C Single submitter hereditary neoplastic syndrome
  • c.706-13T>C Single submitter hereditary neoplastic syndrome
  • c.706-2dup Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • c.706-3C>T Single submitter Lynch syndrome
  • c.706-3del Single submitter Lynch syndrome
  • c.706-5_706-4dup Single submitter hereditary neoplastic syndrome
  • c.706-5T>C Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.803+1G>A Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • c.803+4A>G Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.803+9A>G Single submitter Lynch syndrome 4
  • c.804-11A>G Single submitter hereditary neoplastic syndrome
  • c.804-13T>G Single submitter hereditary neoplastic syndrome
  • c.804-4A>C Single submitter hereditary neoplastic syndrome
  • c.804-4A>G Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.804-8T>C Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.903+4T>C Single submitter hereditary neoplastic syndrome
  • c.903+5T>G Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.904-7T>C Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.988+11T>C Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.988+3A>G Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.988+4A>G Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.989-3T>C Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.989-5C>T Single submitter hereditary neoplastic syndrome
  • c.989-8dup Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.-18G>A Single submitter hereditary neoplastic syndrome
  • c.-1C>A Single submitter hereditary neoplastic syndrome
  • c.-2C>T Single submitter hereditary neoplastic syndrome
  • c.-4A>G Single submitter hereditary neoplastic syndrome
  • c.-5C>A Single submitter hereditary neoplastic syndrome
  • c.-7T>C Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.*2C>G Single submitter Lynch syndrome 4
  • c.*2C>T Single submitter hereditary neoplastic syndrome
  • c.*3G>A Single submitter hereditary neoplastic syndrome
  • c.*3G>T Single submitter hereditary neoplastic syndrome
  • c.*6G>C Single submitter Lynch syndrome 4
  • c.*9A>G Single submitter Lynch syndrome 4
  • p.Ala127Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala129Val Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala182= Single submitter Hereditary nonpolyposis colorectal neoplasms
  • p.Ala262Thr Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala353Val Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala38Val Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala390= Single submitter Hereditary nonpolyposis colorectal neoplasms
  • p.Ala390Val Single submitter PMS2-related disorder ⚠
  • p.Ala423Gly Single submitter mismatch repair cancer syndrome 4 ⚠
  • p.Ala461Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala474Ser Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala474Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala488Thr Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala488Val Single submitter Lynch syndrome ⚠
  • p.Ala4Gly Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala520= Single submitter Hereditary nonpolyposis colorectal neoplasms
  • p.Ala520Val Single submitter mismatch repair cancer syndrome 4 ⚠
  • p.Ala521Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala521Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala539Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala539Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala572_Thr573delinsThrSer Single submitter mismatch repair cancer syndrome 4
  • p.Ala572Ser Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala572Thr Single submitter Lynch syndrome 4 ⚠
  • p.Ala572Val Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala626Asp Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala636Thr Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala636Val Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala660= Single submitter Hereditary nonpolyposis colorectal neoplasms
  • p.Ala725Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala725Val Single submitter mismatch repair cancer syndrome 4 ⚠
  • p.Ala808Pro Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala854Thr Single submitter Lynch syndrome 4 ⚠
  • p.Arg151Gly Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg151His Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg169His Single submitter PMS2-related disorder ⚠
  • p.Arg199Cys Single submitter Lynch syndrome 4 ⚠
  • p.Arg20Gly Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg20Trp Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg211Gln Single submitter Lynch syndrome 4 ⚠
  • p.Arg294Trp Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg295Trp Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg315Gln Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg3Leu Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg407Gly Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg421Gln Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg427Cys Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg427His Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg443Gly Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg444Met Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg451Lys Single submitter Lynch syndrome 4 ⚠
  • p.Arg487Gly Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg527Gly Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg563Gln Single submitter Hereditary nonpolyposis colorectal neoplasms
  • p.Arg578Cys Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg578His Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg628Gln Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg628Gly Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg646= Single submitter Hereditary nonpolyposis colorectal neoplasms
  • p.Arg646Met Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg799Trp Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg813Leu Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg813Trp Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asn293Asp Single submitter Lynch syndrome 4 ⚠
  • p.Asn335Ser Single submitter Hereditary cancer ⚠
  • p.Asn368Ser Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asn371Ile Single submitter Lynch syndrome ⚠
  • p.Asn432Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Asn53Ser Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asn570Asp Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asn570His Single submitter Lynch syndrome ⚠
  • p.Asn575Asp Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asn596Asp Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asn612Ser Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asn692Ser Single submitter mismatch repair cancer syndrome 4 ⚠
  • p.Asn749Lys Single submitter Lynch syndrome 4 ⚠
  • p.Asn79= Single submitter Hereditary nonpolyposis colorectal neoplasms
  • p.Asp138His Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp286Gly Single submitter Breast and/or ovarian cancer ⚠
  • p.Asp328Gly Single submitter PMS2-related disorder ⚠
  • p.Asp366His Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp401Glu Single submitter hereditary neoplastic syndrome ⚠
  • p.Asp401His Single submitter hereditary neoplastic syndrome ⚠
  • p.Asp414Asn Single submitter hereditary neoplastic syndrome ⚠
  • p.Asp414His Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp414Tyr Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp483Asn Single submitter Lynch syndrome 4 ⚠
  • p.Asp486Asn Single submitter hereditary neoplastic syndrome ⚠
  • p.Asp486Gly Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp486His Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp48Asn Single submitter Lynch syndrome 4 ⚠
  • p.Asp493Asn Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp526Asn Single submitter hereditary neoplastic syndrome ⚠
  • p.Asp526Gly Single submitter mismatch repair cancer syndrome 4 ⚠
  • p.Asp526Tyr Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp534Glu Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp544= Single submitter Hereditary nonpolyposis colorectal neoplasms
  • p.Asp548Asn Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp557Val Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp589His Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp599Asn Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp599Gly Single submitter hereditary neoplastic syndrome ⚠
  • p.Asp619Asn Single submitter hereditary neoplastic syndrome ⚠
  • p.Asp694Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Asp756Asn Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp784Asn Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Cys192Tyr Single submitter hereditary neoplastic syndrome ⚠
  • p.Cys216Phe Single submitter hereditary neoplastic syndrome ⚠
  • p.Cys252Tyr Single submitter Lynch syndrome 4 ⚠
  • p.Cys331= Single submitter mismatch repair cancer syndrome 4
  • p.Cys560Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Cys560Tyr Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Cys591Arg Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Cys843Tyr Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Gln100Arg Single submitter Lynch syndrome ⚠
  • p.Gln100Pro Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Gln145Lys Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Gln205Pro Single submitter Lynch syndrome ⚠
  • p.Gln212= Single submitter Lynch syndrome 4
  • p.Gln235= Single submitter Lynch syndrome 4
  • p.Gln237= Single submitter Lynch syndrome
  • p.Gln237Leu Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Gln25= Single submitter hereditary neoplastic syndrome
  • p.Gln275Arg Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Gln275Glu Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Gln275His Single submitter Lynch syndrome ⚠
  • p.Gln30Arg Single submitter hereditary neoplastic syndrome ⚠
  • p.Gln30Lys Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Gln346Arg Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Gln400Pro Single submitter PMS2-related disorder ⚠
  • p.Gln402Arg Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Gln402Glu Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Gln402Lys Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Gln449Glu Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Gln530Arg Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Gln536Glu Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Gln555Arg Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Gln592Glu Single submitter hereditary neoplastic syndrome ⚠
  • p.Gln638His Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Gln643Arg Single submitter Lynch syndrome ⚠
  • p.Gln643Glu Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Gln643His Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Glu10= Single submitter hereditary neoplastic syndrome
  • p.Glu109= Single submitter Hereditary nonpolyposis colorectal neoplasms
  • p.Glu225Asp Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Glu2Gly Single submitter hereditary neoplastic syndrome ⚠
  • p.Glu308Asp Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Glu347Asp Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Glu410Lys Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Glu422Lys Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Glu431Lys Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Glu473Gly Single submitter hereditary neoplastic syndrome ⚠
  • p.Glu473Lys Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Glu489Lys Single submitter Lynch syndrome 4 ⚠
  • p.Glu504Gln Single submitter Lynch syndrome ⚠
  • p.Glu518Lys Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Glu556Gln Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Glu5Gln Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Glu640= Single submitter Lynch syndrome 4
  • p.Glu640Lys Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Glu642Lys Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Glu667Lys Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Glu705Asp Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Glu763Gly Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Glu77Ala Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Glu81Lys Single submitter mismatch repair cancer syndrome 4 ⚠
  • p.Gly108Trp Single submitter hereditary neoplastic syndrome ⚠
  • p.Gly154Glu Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Gly207Glu Single submitter Breast and/or ovarian cancer
  • p.Gly218Ser Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Gly219Arg Single submitter Hereditary nonpolyposis colorectal neoplasms
  • p.Gly228Ser Single submitter Breast and/or ovarian cancer ⚠
  • p.Gly256Ser Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Gly279Val Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Gly29Ala Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Gly382= Single submitter Hereditary nonpolyposis colorectal neoplasms
  • p.Gly448= Single submitter Lynch syndrome 4
  • p.Gly452Arg Single submitter Lynch syndrome ⚠
  • p.Gly452Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Gly452Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Gly460Asp Single submitter mismatch repair cancer syndrome 4 ⚠
  • p.Gly466Ala Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Gly466Val Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Gly480Ala Single submitter hereditary neoplastic syndrome ⚠
  • p.Gly480Arg Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Gly497Asp Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Gly497Ser Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Gly525Glu Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Gly528Ser Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Gly559Arg Single submitter Lynch syndrome 4 ⚠
  • p.Gly641Val Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Gly655Arg Single submitter Lynch syndrome
  • p.Gly72Glu Single submitter hereditary nonpolyposis colon cancer ⚠
  • p.Gly72Val Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Gly74Arg Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Gly750_Phe751= Single submitter Hereditary nonpolyposis colorectal neoplasms
  • p.Gly750Asp Single submitter PMS2-related disorder ⚠
  • p.His189Arg Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.His189Asn Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.His278Asn Single submitter hereditary neoplastic syndrome
  • p.His435Gln Single submitter hereditary neoplastic syndrome ⚠
  • p.His435Tyr Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠

Benign 124

Benign/Likely benign 412

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

  • c.1145-11C>T Multiple submitters Lynch syndrome
  • c.1145-16G>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1145-17C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.2007-11dup Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.2007-16C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.2175-4del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.2275+12_2275+15del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.23+10G>C Multiple submitters Breast and/or ovarian cancer
  • c.2445+11A>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.2445+30A>G Multiple submitters
  • c.2446-19C>T Multiple submitters Lynch syndrome 4
  • c.250+8G>A Multiple submitters hereditary neoplastic syndrome
  • c.251-12A>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.251-13C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.251-20T>G Multiple submitters Breast and/or ovarian cancer
  • c.353+9A>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.354-174T>C Multiple submitters
  • c.354-18_354-15dup Multiple submitters Lynch syndrome 4
  • c.537+17C>T Multiple submitters Lynch syndrome 4
  • c.538-19_538-18del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.538-53_538-42dup Multiple submitters
  • c.705+12C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.706-4del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.706-4dup Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.706-5_706-4del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.706-6_706-4del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.803+19A>G Multiple submitters hereditary neoplastic syndrome
  • c.804-15A>G Multiple submitters hereditary neoplastic syndrome
  • c.804-21T>C Multiple submitters Lynch syndrome 4
  • c.804-49A>G Multiple submitters Lynch syndrome 4
  • c.903+10del Multiple submitters Lynch syndrome 4
  • c.903+17dup Multiple submitters hereditary neoplastic syndrome
  • c.903+4T>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.904-17C>A Multiple submitters hereditary neoplastic syndrome
  • c.989-21_989-20del Multiple submitters Breast and/or ovarian cancer
  • c.-18G>C Multiple submitters Breast and/or ovarian cancer
  • c.-33C>T Multiple submitters
  • c.-93G>T Multiple submitters mismatch repair cancer syndrome 4
  • c.*8C>T Multiple submitters Lynch syndrome 4
  • p.Ala12= Multiple submitters hereditary neoplastic syndrome
  • p.Ala127= Multiple submitters hereditary neoplastic syndrome
  • p.Ala129= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ala190= Multiple submitters hereditary neoplastic syndrome
  • p.Ala353= Multiple submitters Lynch syndrome 4
  • p.Ala389= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ala4= Multiple submitters hereditary neoplastic syndrome
  • p.Ala423= Multiple submitters hereditary neoplastic syndrome
  • p.Ala461= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ala474= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ala488= Multiple submitters Lynch syndrome
  • p.Ala49= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ala51= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ala674= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ala737= Multiple submitters Lynch syndrome 4
  • p.Ala765= Multiple submitters hereditary neoplastic syndrome
  • p.Arg107= Multiple submitters hereditary neoplastic syndrome
  • p.Arg175= Multiple submitters Lynch syndrome 4
  • p.Arg199= Multiple submitters Lynch syndrome 4
  • p.Arg20= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Arg211= Multiple submitters hereditary neoplastic syndrome
  • p.Arg282= Multiple submitters Lynch syndrome
  • p.Arg287= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Arg3= Multiple submitters hereditary neoplastic syndrome
  • p.Arg315= Multiple submitters Lynch syndrome 4
  • p.Arg419= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Arg444= Multiple submitters hereditary neoplastic syndrome
  • p.Arg563= Multiple submitters hereditary neoplastic syndrome
  • p.Arg578= Multiple submitters Lynch syndrome
  • p.Arg665= Multiple submitters Lynch syndrome
  • p.Arg722= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Arg747= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Arg764= Multiple submitters hereditary neoplastic syndrome
  • p.Arg799= Multiple submitters Lynch syndrome 4
  • p.Asn176= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asn265= Multiple submitters mismatch repair cancer syndrome 4
  • p.Asn293= Multiple submitters hereditary neoplastic syndrome
  • p.Asn314= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asn324= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asn368= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asn371= Multiple submitters Lynch syndrome
  • p.Asn45= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asn570= Multiple submitters hereditary neoplastic syndrome
  • p.Asn683= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asn692= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asn708= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asn71= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asn730= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asn742= Multiple submitters hereditary neoplastic syndrome
  • p.Asn749= Multiple submitters hereditary neoplastic syndrome
  • p.Asn823= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asn855= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asn862= Multiple submitters hereditary neoplastic syndrome
  • p.Asp119= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asp249= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asp328= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asp364= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asp401= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asp414= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asp464= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asp483= Multiple submitters hereditary neoplastic syndrome
  • p.Asp502= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asp510= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asp526= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asp534= Multiple submitters Lynch syndrome 4
  • p.Asp543= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asp557= Multiple submitters mismatch repair cancer syndrome 4
  • p.Asp589= Multiple submitters hereditary neoplastic syndrome
  • p.Asp599= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asp694= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asp699= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asp704= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asp756= Multiple submitters hereditary neoplastic syndrome
  • p.Asp782= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asp784= Multiple submitters hereditary neoplastic syndrome
  • p.Cys125= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Cys192= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Cys202= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Cys276= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Cys303= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Cys551= Multiple submitters Lynch syndrome 4
  • p.Cys560= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Cys798= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Cys843= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gln100= Multiple submitters hereditary neoplastic syndrome
  • p.Gln160= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gln174= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gln186= Multiple submitters hereditary neoplastic syndrome
  • p.Gln205= Multiple submitters Lynch syndrome 4
  • p.Gln208= Multiple submitters hereditary neoplastic syndrome
  • p.Gln30= Multiple submitters Lynch syndrome
  • p.Gln342= Multiple submitters hereditary neoplastic syndrome
  • p.Gln375= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gln402= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gln471= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gln592= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gln604= Multiple submitters hereditary neoplastic syndrome
  • p.Gln631= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gln637= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gln681= Multiple submitters Lynch syndrome 4
  • p.Gln700= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gln719= Multiple submitters hereditary neoplastic syndrome
  • p.Gln727= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gln781= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gln805= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gln93= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Glu180= Multiple submitters Lynch syndrome 4
  • p.Glu2= Multiple submitters hereditary neoplastic syndrome
  • p.Glu225= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Glu253= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Glu308= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Glu347= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Glu348= Multiple submitters hereditary neoplastic syndrome
  • p.Glu41= Multiple submitters Lynch syndrome 4
  • p.Glu410= Multiple submitters hereditary neoplastic syndrome
  • p.Glu411= Multiple submitters hereditary neoplastic syndrome
  • p.Glu422= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Glu489= Multiple submitters Lynch syndrome 4
  • p.Glu504= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Glu537= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Glu537Lys Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Glu556= Multiple submitters hereditary neoplastic syndrome
  • p.Glu582= Multiple submitters hereditary neoplastic syndrome
  • p.Glu642= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Glu663= Multiple submitters Lynch syndrome 4
  • p.Glu667= Multiple submitters hereditary neoplastic syndrome
  • p.Glu67= Multiple submitters Lynch syndrome 4
  • p.Glu675= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Glu693= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Glu710= Multiple submitters hereditary neoplastic syndrome
  • p.Glu741= Multiple submitters hereditary neoplastic syndrome
  • p.Glu757= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Glu763= Multiple submitters hereditary neoplastic syndrome
  • p.Glu785= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Glu81= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Glu826= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Glu836= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Glu94= Multiple submitters hereditary neoplastic syndrome
  • p.Gly105= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gly132= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gly141= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gly154= Multiple submitters Lynch syndrome 4
  • p.Gly197= Multiple submitters Lynch syndrome 4
  • p.Gly209= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gly232= Multiple submitters hereditary neoplastic syndrome
  • p.Gly256= Multiple submitters Lynch syndrome 4
  • p.Gly29= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gly409= Multiple submitters hereditary neoplastic syndrome
  • p.Gly452= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gly466= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gly497= Multiple submitters Lynch syndrome 4
  • p.Gly505= Multiple submitters hereditary neoplastic syndrome
  • p.Gly512= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gly525= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gly528= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gly62= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gly641= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gly685= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gly795= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gly846= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.His126= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.His139= Multiple submitters Lynch syndrome 4
  • p.His189= Multiple submitters hereditary neoplastic syndrome
  • p.His311= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.His316= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.His388= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.His428= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.His435= Multiple submitters mismatch repair cancer syndrome 4
  • p.His479= Multiple submitters mismatch repair cancer syndrome 4
  • p.His514= Multiple submitters hereditary neoplastic syndrome
  • p.His532= Multiple submitters hereditary neoplastic syndrome
  • p.His552= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.His634= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.His833= Multiple submitters hereditary neoplastic syndrome
  • p.His839= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.His845= Multiple submitters hereditary neoplastic syndrome
  • p.His852= Multiple submitters hereditary neoplastic syndrome
  • p.His88= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ile143= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ile15= Multiple submitters Lynch syndrome 4
  • p.Ile18= Multiple submitters Lynch syndrome 4
  • p.Ile223= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ile227= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ile240= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ile269= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ile462= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ile508= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ile590= Multiple submitters Lynch syndrome 4
  • p.Ile66= Multiple submitters Lynch syndrome
  • p.Ile695= Multiple submitters hereditary neoplastic syndrome
  • p.Ile755= Multiple submitters Lynch syndrome 4
  • p.Ile768= Multiple submitters hereditary neoplastic syndrome
  • p.Ile853= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Leu114= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Leu117= Multiple submitters hereditary neoplastic syndrome
  • p.Leu162= Multiple submitters Lynch syndrome 4
  • p.Leu257= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Leu263= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Leu344= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Leu350= Multiple submitters hereditary neoplastic syndrome
  • p.Leu392= Multiple submitters Lynch syndrome 4
  • p.Leu42= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Leu420= Multiple submitters Lynch syndrome 4
  • p.Leu426= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Leu454= Multiple submitters hereditary neoplastic syndrome
  • p.Leu56= Multiple submitters hereditary neoplastic syndrome
  • p.Leu56Val Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Leu571= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Leu58= Multiple submitters hereditary neoplastic syndrome
  • p.Leu664= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Leu712= Multiple submitters hereditary neoplastic syndrome
  • p.Leu718= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Leu723= Multiple submitters hereditary neoplastic syndrome
  • p.Leu731= Multiple submitters hereditary neoplastic syndrome
  • p.Leu739= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Leu767= Multiple submitters hereditary neoplastic syndrome
  • p.Leu770= Multiple submitters Lynch syndrome 4
  • p.Leu786= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Leu790= Multiple submitters Lynch syndrome 4
  • p.Leu822= Multiple submitters hereditary neoplastic syndrome
  • p.Leu85= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Leu856= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Lys13= Multiple submitters hereditary neoplastic syndrome
  • p.Lys171= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Lys210= Multiple submitters hereditary neoplastic syndrome
  • p.Lys224= Multiple submitters Lynch syndrome 4
  • p.Lys234= Multiple submitters Lynch syndrome 4
  • p.Lys369= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Lys386= Multiple submitters Lynch syndrome 4
  • p.Lys399= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Lys433= Multiple submitters hereditary neoplastic syndrome
  • p.Lys472= Multiple submitters hereditary neoplastic syndrome
  • p.Lys492= Multiple submitters mismatch repair cancer syndrome 4
  • p.Lys538= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Lys541Glu Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Lys57= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Lys577= Multiple submitters Lynch syndrome
  • p.Lys580= Multiple submitters Lynch syndrome 4
  • p.Lys593= Multiple submitters hereditary neoplastic syndrome
  • p.Lys614= Multiple submitters Lynch syndrome 4
  • p.Lys670= Multiple submitters hereditary neoplastic syndrome
  • p.Lys706= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Lys766= Multiple submitters Lynch syndrome 4
  • p.Lys814= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Lys829= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Lys86= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Phe104= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Phe137= Multiple submitters Lynch syndrome 4
  • p.Phe267= Multiple submitters hereditary neoplastic syndrome
  • p.Phe506= Multiple submitters hereditary neoplastic syndrome
  • p.Phe620= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Phe648= Multiple submitters mismatch repair cancer syndrome 4
  • p.Phe686= Multiple submitters Lynch syndrome 4
  • p.Phe696= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Phe746= Multiple submitters Lynch syndrome 4
  • p.Phe753= Multiple submitters hereditary neoplastic syndrome
  • p.Phe778= Multiple submitters hereditary neoplastic syndrome
  • p.Phe788= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Phe80= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Pro11= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Pro148= Multiple submitters Hereditary nonpolyposis colorectal neoplasms

Likely benign 808

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

  • p.Arg563Leu Expert panel Lynch syndrome
  • p.Asp60Glu Expert panel Lynch syndrome
  • p.Ile18Val Expert panel Lynch syndrome 1 ⚠
  • p.Leu571Ile Expert panel Lynch syndrome
  • c.1144+10A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1144+14A>G Multiple submitters hereditary neoplastic syndrome
  • c.1144+20C>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1144+20C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1145-10G>T Multiple submitters Lynch syndrome 4
  • c.1145-12A>G Multiple submitters Lynch syndrome 4
  • c.1145-15T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1145-16G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1145-24T>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1145-7T>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.163+10G>A Multiple submitters Lynch syndrome 4
  • c.163+19T>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.163+8T>G Multiple submitters Lynch syndrome 4
  • c.163+9G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.163+9G>C Multiple submitters Lynch syndrome 4
  • c.164-11A>C Multiple submitters Lynch syndrome 4
  • c.164-16A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.164-20A>G Multiple submitters Lynch syndrome 4
  • c.164-4C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.164-6T>C Multiple submitters Lynch syndrome
  • c.164-8C>T Multiple submitters hereditary neoplastic syndrome
  • c.2006+12A>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.2007-10C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.2007-18A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.2007-18A>T Multiple submitters Lynch syndrome 4
  • c.2007-4G>T Multiple submitters Lynch syndrome 4
  • c.2007-6C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.2007-8A>G Multiple submitters Lynch syndrome 4
  • c.2007-9T>C Multiple submitters Lynch syndrome 4
  • c.2175-11_2175-8del Multiple submitters hereditary neoplastic syndrome
  • c.2175-11G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.2175-11G>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.2175-13T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.2175-14T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.2175-14T>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.2175-17A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.2175-18C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.2175-8T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.2175-9G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.2275+10T>G Multiple submitters Lynch syndrome 4
  • c.2275+8A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.2276-12G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.2276-14T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.2276-18A>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.2276-19C>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.2276-19C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.2276-46C>T Multiple submitters
  • c.2276-6T>C Multiple submitters Lynch syndrome 4
  • c.2276-7C>T Multiple submitters Lynch syndrome 4
  • c.23+11C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.23+13C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.23+17G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.23+19C>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.23+19C>T Multiple submitters hereditary neoplastic syndrome
  • c.23+29C>T Multiple submitters Lynch syndrome
  • c.23+31C>T Multiple submitters
  • c.23+6C>T Multiple submitters Lynch syndrome 4
  • c.23+7G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.23+7G>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.23+8G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.23+9G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.24-11G>A Multiple submitters Lynch syndrome 4
  • c.24-11G>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.24-16T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.24-4C>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.2445+11_2445+14del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.2445+14G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.2445+14G>T Multiple submitters mismatch repair cancer syndrome 1
  • c.2445+8A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.2445+8A>T Multiple submitters Lynch syndrome 4
  • c.2445+9A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.2445+9A>T Multiple submitters Lynch syndrome 4
  • c.2445+9del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.2446-11C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.2446-12T>C Multiple submitters Lynch syndrome 4
  • c.2446-13G>A Multiple submitters Lynch syndrome 4
  • c.2446-14T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.2446-15G>A Multiple submitters Lynch syndrome 4
  • c.2446-15G>T Multiple submitters hereditary neoplastic syndrome
  • c.2446-17T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.2446-18A>G Multiple submitters Lynch syndrome 4
  • c.2446-20C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.2446-6A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.2446-8A>T Multiple submitters Lynch syndrome 4
  • c.2446-9C>T Multiple submitters Lynch syndrome 4
  • c.250+10C>G Multiple submitters Lynch syndrome 4
  • c.250+10C>T Multiple submitters Lynch syndrome 4
  • c.250+12T>C Multiple submitters hereditary neoplastic syndrome
  • c.250+16C>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.250+17T>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.250+20T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.251-11C>T Multiple submitters Lynch syndrome 4
  • c.251-14A>G Multiple submitters Lynch syndrome 4
  • c.251-15T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.251-18C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.251-19_251-16del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.251-7C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.353+10T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.353+17A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.353+19C>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.353+20C>T Multiple submitters hereditary neoplastic syndrome
  • c.353+7C>A Multiple submitters hereditary neoplastic syndrome
  • c.353+7C>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.353+9A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.354-13T>C Multiple submitters Lynch syndrome 4
  • c.354-14G>A Multiple submitters Lynch syndrome 4
  • c.354-14G>T Multiple submitters hereditary neoplastic syndrome
  • c.354-15G>T Multiple submitters hereditary neoplastic syndrome
  • c.354-16T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.354-17C>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.354-19G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.354-20T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.354-34C>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.354-9C>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.354-9C>T Multiple submitters Lynch syndrome 4
  • c.537+16C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.537+9A>G Multiple submitters hereditary neoplastic syndrome
  • c.538-12dup Multiple submitters hereditary neoplastic syndrome
  • c.538-15G>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.538-19G>C Multiple submitters Lynch syndrome 4
  • c.538-20T>C Multiple submitters Lynch syndrome 4
  • c.538-6A>G Multiple submitters Lynch syndrome 4
  • c.705+10G>A Multiple submitters Lynch syndrome 4
  • c.705+13G>A Multiple submitters hereditary neoplastic syndrome
  • c.705+7A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.705+8T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.705+9G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.706-14T>A Multiple submitters Lynch syndrome 4
  • c.706-4T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.706-6T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.706-7_706-6insG Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.706-7T>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.803+11dup Multiple submitters hereditary neoplastic syndrome
  • c.803+8G>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.804-10T>C Multiple submitters Lynch syndrome 4
  • c.804-11A>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.804-12A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.804-13T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.804-16T>C Multiple submitters hereditary neoplastic syndrome
  • c.804-17A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.804-18C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.804-19C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.804-20A>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.804-9G>A Multiple submitters hereditary neoplastic syndrome
  • c.903+10A>T Multiple submitters Lynch syndrome 4
  • c.903+11T>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.903+17T>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.903+20_903+21del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.903+20G>C Multiple submitters hereditary neoplastic syndrome
  • c.903+9A>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.904-10T>C Multiple submitters Lynch syndrome 4
  • c.904-11A>G Multiple submitters Lynch syndrome 4
  • c.904-13G>T Multiple submitters hereditary neoplastic syndrome
  • c.904-14T>C Multiple submitters Lynch syndrome
  • c.904-14T>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.904-16C>T Multiple submitters Lynch syndrome 4
  • c.904-17_904-15del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.904-17C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.904-19C>T Multiple submitters Lynch syndrome 4
  • c.904-20A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.904-4G>T Multiple submitters hereditary neoplastic syndrome
  • c.904-5T>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.904-6G>A Multiple submitters Lynch syndrome 4
  • c.988+10A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.988+9C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.989-14C>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.989-14C>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.989-18T>C Multiple submitters Lynch syndrome 4
  • c.989-19G>A Multiple submitters Lynch syndrome 4
  • c.989-20T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.989-6C>T Multiple submitters hereditary neoplastic syndrome
  • c.-19C>T Multiple submitters hereditary neoplastic syndrome
  • c.-24C>G Multiple submitters
  • c.-49C>T Multiple submitters Lynch syndrome 4
  • c.*107A>G Multiple submitters Lynch syndrome 4
  • p.Ala116= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ala262= Multiple submitters hereditary neoplastic syndrome
  • p.Ala539= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ala572= Multiple submitters hereditary neoplastic syndrome
  • p.Ala702= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ala725= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Arg407= Multiple submitters hereditary neoplastic syndrome
  • p.Arg427= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Arg443= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Arg813= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Arg851= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asn335= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asn432= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asn758= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asp138= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asp261= Multiple submitters hereditary neoplastic syndrome
  • p.Asp366= Multiple submitters hereditary neoplastic syndrome
  • p.Asp486= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asp493= Multiple submitters hereditary neoplastic syndrome
  • p.Asp548= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asp55= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asp70= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asp792= Multiple submitters hereditary neoplastic syndrome
  • p.Cys216= Multiple submitters hereditary neoplastic syndrome
  • p.Cys515= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Cys812= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gln161= Multiple submitters hereditary neoplastic syndrome
  • p.Gln288= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gln317= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gln861= Multiple submitters Lynch syndrome 4
  • p.Glu431= Multiple submitters hereditary neoplastic syndrome
  • p.Glu491= Multiple submitters hereditary neoplastic syndrome
  • p.Glu5= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Glu518= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gly559= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gly720= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gly74= Multiple submitters Lynch syndrome
  • p.Gly750= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gly819= Multiple submitters hereditary neoplastic syndrome
  • p.Gly835= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Gly857= Multiple submitters hereditary neoplastic syndrome
  • p.His701= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.His715= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ile122= Multiple submitters hereditary neoplastic syndrome
  • p.Ile334= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ile679= Multiple submitters hereditary neoplastic syndrome
  • p.Ile818= Multiple submitters hereditary neoplastic syndrome
  • p.Leu166= Multiple submitters hereditary neoplastic syndrome
  • p.Leu305= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Leu345= Multiple submitters hereditary neoplastic syndrome
  • p.Leu35= Multiple submitters hereditary neoplastic syndrome
  • p.Leu351= Multiple submitters hereditary neoplastic syndrome
  • p.Leu447= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Leu830= Multiple submitters hereditary neoplastic syndrome
  • p.Lys130= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Lys340= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Lys349= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Lys40= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Lys450= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Lys690= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Lys804= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Phe290= Multiple submitters hereditary neoplastic syndrome
  • p.Phe95= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Pro152= Multiple submitters hereditary neoplastic syndrome
  • p.Pro617= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Pro771= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Pro780= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ser260= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ser274= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ser329= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ser405= Multiple submitters hereditary neoplastic syndrome
  • p.Ser445= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ser507= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ser516= Multiple submitters hereditary neoplastic syndrome
  • p.Ser547= Multiple submitters hereditary neoplastic syndrome
  • p.Ser769= Multiple submitters hereditary neoplastic syndrome
  • p.Ser793= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ser860= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Thr337= Multiple submitters hereditary neoplastic syndrome
  • p.Thr558= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Thr569= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Thr597= Multiple submitters hereditary neoplastic syndrome
  • p.Thr597Ser Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Thr89= Multiple submitters hereditary neoplastic syndrome
  • p.Tyr181= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Val322= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Val754= Multiple submitters hereditary neoplastic syndrome
  • p.Val816= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1144+11T>A Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.1144+11T>C Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.1144+12A>G Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.1144+13C>G Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.1144+14A>T Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.1144+15G>A Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.1144+16T>A Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.1144+16T>C Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.1144+16T>G Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.1144+17G>A Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.1144+20C>A Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.1144+20del Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.1144+48G>A Single submitter
  • c.1144+7A>G Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.1144+9A>C Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.1144+9A>T Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.1145-12A>T Single submitter Lynch syndrome 4
  • c.1145-13C>T Single submitter hereditary neoplastic syndrome
  • c.1145-14C>A Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.1145-18C>G Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.1145-20C>T Single submitter
  • c.1145-21T>C Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.1145-23_1145-22del Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.1145-23C>T Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.1145-27C>A Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.1145-31C>T Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.1145-32C>G Single submitter
  • c.1145-33C>T Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.1145-4T>C Single submitter hereditary neoplastic syndrome
  • c.1145-6G>A Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.163+10G>T Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.163+12A>C Single submitter Hereditary nonpolyposis colorectal neoplasms
  • c.163+12A>G Single submitter Hereditary nonpolyposis colorectal neoplasms

Uncertain significance 2661

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

  • c.1144+3A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1144+4A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1144+5del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.1145-5C>G Multiple submitters hereditary neoplastic syndrome
  • c.163+3A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.163+4A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.2006+3A>G Multiple submitters Lynch syndrome 4
  • c.2174+3G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.2174+3G>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.2174+6T>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.2275+5G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.23+3G>C Multiple submitters Lynch syndrome
  • c.23+3G>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.23+4A>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.23+5G>A Multiple submitters hereditary neoplastic syndrome
  • c.2445+3A>T Multiple submitters hereditary neoplastic syndrome
  • c.2445+5G>C Multiple submitters mismatch repair cancer syndrome 4
  • c.2445+6T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.2446-5C>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.250+5G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.250+5G>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.251-10T>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.251-6_251-3del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.353+4A>G Multiple submitters hereditary neoplastic syndrome
  • c.353+6dup Multiple submitters hereditary neoplastic syndrome
  • c.354-3C>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.354-7C>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.537+3A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.538-3C>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.538-3C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.705+3A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.705+5T>C Multiple submitters hereditary neoplastic syndrome
  • c.705+5T>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.706-3C>A Multiple submitters hereditary neoplastic syndrome
  • c.706-3delinsTA Multiple submitters Lynch syndrome 4
  • c.903+3A>G Multiple submitters Lynch syndrome
  • c.904-14T>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.988+4A>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.988+5G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • c.-1C>T Multiple submitters hereditary neoplastic syndrome
  • c.-2C>G Multiple submitters hereditary neoplastic syndrome
  • c.-3T>G Multiple submitters hereditary neoplastic syndrome
  • c.-6G>A Multiple submitters hereditary neoplastic syndrome
  • c.-7_-5del Multiple submitters hereditary neoplastic syndrome
  • p.Ala110Ser Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala110Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala110Val Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala116Ser Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala116Thr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala116Val Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala127Gly Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala127Ser Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala129Thr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala12Asp Multiple submitters hereditary neoplastic syndrome
  • p.Ala12Thr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala12Val Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala14Gly Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala14Ser Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala14Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala182Thr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala182Val Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala190Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala190Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala196Pro Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala196Thr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala196Val Multiple submitters Lynch syndrome 4 ⚠
  • p.Ala262Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala300Glu Multiple submitters hereditary neoplastic syndrome
  • p.Ala300Pro Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala300Val Multiple submitters Lynch syndrome ⚠
  • p.Ala353Glu Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala353Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala389Thr Multiple submitters Lynch syndrome ⚠
  • p.Ala389Val Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala38Glu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala38Ser Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala390Glu Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala390Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala423Asp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala423Ser Multiple submitters Lynch syndrome ⚠
  • p.Ala423Val Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala474Thr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala488Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala488Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala49Gly Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala49Thr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala49Val Multiple submitters Lynch syndrome 4 ⚠
  • p.Ala4Asp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala4Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala4Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala4Val Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala51Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala51Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala521Gly Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala539Glu Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala608Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala626Pro Multiple submitters Lynch syndrome ⚠
  • p.Ala626Thr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala650Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala650Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala650Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala659Thr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala659Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala674Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala702Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala702Thr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala702Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala725Glu Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala725Pro Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala733Val Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ala737Asp Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ala737Thr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala759Asp Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala759Ser Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala759Val Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala765Asp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala808Thr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala808Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala811Thr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala811Val Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala821Gly Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala821Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala821Val Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Ala854Pro Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala854Ser Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Ala96Thr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg107Gln Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg107Leu Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg107Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg134Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg151Cys Multiple submitters PMS2-related disorder ⚠
  • p.Arg151Pro Multiple submitters Lynch syndrome 4 ⚠
  • p.Arg151Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg153Gly Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg169Cys Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg175Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg175Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg175Met Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg175Ser Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg199His Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg199Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg199Pro Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg20Pro Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg211Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg211Leu Multiple submitters hereditary neoplastic syndrome
  • p.Arg211Pro Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg282del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Arg282Gly Multiple submitters Lynch syndrome ⚠
  • p.Arg287Gly Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg287Lys Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg294Gln Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg294Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg294Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg295Gln Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg304Gly Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg304Lys Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg315Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg315Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg341Ser Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg341Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg3Gln Multiple submitters mismatch repair cancer syndrome 4 ⚠
  • p.Arg3Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg3Pro Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg407Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg419Gly Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg419Thr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg421Leu Multiple submitters hereditary neoplastic syndrome
  • p.Arg443Ser Multiple submitters mismatch repair cancer syndrome 4 ⚠
  • p.Arg451= Multiple submitters hereditary neoplastic syndrome
  • p.Arg451Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg451Thr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg469Lys Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg487Thr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg527Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg563Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg578Leu Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg578Ser Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg628Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg646Gly Multiple submitters hereditary neoplastic syndrome
  • p.Arg646Lys Multiple submitters hereditary breast ovarian cancer syndrome ⚠
  • p.Arg646Thr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg646Trp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg649Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg649Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg722Gly Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Arg747Gly Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg747Ile Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Arg747Thr Multiple submitters Lynch syndrome 4 ⚠
  • p.Arg764Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg764Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg799Gln Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg799Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg802Gln Multiple submitters Lynch syndrome ⚠
  • p.Arg802Gly Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg802Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg810Gly Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg810Ile Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg810Lys Multiple submitters hereditary neoplastic syndrome
  • p.Arg813Gln Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg813Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg847Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg847Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg851fs Multiple submitters hereditary neoplastic syndrome
  • p.Arg851Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg851Lys Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Arg851Thr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asn140Asp Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asn140Ser Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asn176Ile Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn204Asp Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asn204His Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asn204Ser Multiple submitters PMS2-related disorder ⚠
  • p.Asn226Asp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn226Ser Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asn265Asp Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asn265Ser Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asn293Ile Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asn293Ser Multiple submitters Lynch syndrome 4 ⚠
  • p.Asn293Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn307Asp Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asn307Lys Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asn307Ser Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asn307Thr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asn314Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn324Lys Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asn324Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn324Thr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asn324Tyr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asn335Ile Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asn371Asp Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asn371His Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asn371Lys Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asn383Asp Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asn383Ser Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asn432Asp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn432Lys Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asn45Asp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn45Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn53Asp Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asn575His Multiple submitters Lynch syndrome ⚠
  • p.Asn575Ser Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asn644Ser Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asn683Lys Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asn683Tyr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asn71Asp Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asn71Ser Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asn730Lys Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asn730Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn735Asp Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asn735Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn735Ser Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asn742Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn749Ser Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asn775Ile Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn823Tyr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn842Lys Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asn842Ser Multiple submitters hereditary neoplastic syndrome
  • p.Asp119Asn Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp119Gly Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp119Tyr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp19Asn Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp19Gly Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp19His Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp19Tyr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp261Asn Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp261His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp286_Arg287del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
  • p.Asp286Glu Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp286His Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp298Glu Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp298Gly Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp333Ala Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp333Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp339Gly Multiple submitters Lynch syndrome 4 ⚠
  • p.Asp364Asn Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp364Glu Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp364His Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp366Asn Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp379Ala Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp379Val Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp391His Multiple submitters Lynch syndrome ⚠
  • p.Asp391Tyr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp401Asn Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp401Tyr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp464Asn Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp493Glu Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp493His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp502Gly Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp526Glu Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp526His Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp534Tyr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp543His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp544Asn Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp544Tyr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp544Val Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp548Ala Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp548Val Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp557Gly Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp55Val Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
  • p.Asp589Val Multiple submitters hereditary neoplastic syndrome ⚠