MSH2 — 6982 ClinVar variants

All ClinVar germline MSH2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 2742 flagged for review →

1177 Pathogenic · 149 Pathogenic/Likely pathogenic · 255 Likely pathogenic · 1330 Conflicting · 185 Benign · 448 Benign/Likely benign · 1260 Likely benign · 2178 Uncertain significance

Full MSH2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 2742

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 9

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

MSH2 p.Asp660Gly Likely pathogenic Expert panel
Lynch syndrome
MSH2 p.Ser554Cys Pathogenic Expert panel
Lynch syndrome
MSH2 p.Ser554Gly Pathogenic Expert panel
Lynch syndrome
MSH2 p.Ser554Thr Pathogenic Expert panel
Lynch syndrome
MSH2 p.Ile774Val Pathogenic/Likely pathogenic Multiple submitters
Lynch syndrome 1
MSH2 p.Ser554Asn Pathogenic/Likely pathogenic Multiple submitters
Muir-Torre syndrome
MSH2 p.Arg737Lys Likely pathogenic Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Gln314His Likely pathogenic Single submitter
hereditary neoplastic syndrome
MSH2 p.Ser554Ile Likely pathogenic Single submitter
hereditary neoplastic syndrome

Predictors agree, ClinVar conflicts 751

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification. · showing the 150 best-reviewed of 751

MSH2 p.Ala107Gly Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala107Pro Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala111Gly Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala111Val Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala123Gly Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala143Val Conflicting Single submitter
hereditary neoplastic syndrome
MSH2 p.Ala14Thr Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala154Thr Conflicting Single submitter
hereditary neoplastic syndrome
MSH2 p.Ala154Val Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala15Thr Conflicting Single submitter
hereditary neoplastic syndrome
MSH2 p.Ala207Thr Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala230Val Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala266Val Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala309Val Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala327Thr Conflicting Single submitter
hereditary neoplastic syndrome
MSH2 p.Ala327Val Conflicting Single submitter
hereditary neoplastic syndrome
MSH2 p.Ala328Pro Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala328Thr Conflicting Single submitter
Lynch syndrome
MSH2 p.Ala365Val Conflicting Single submitter
hereditary neoplastic syndrome
MSH2 p.Ala370Gly Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala370Thr Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala370Val Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala391Thr Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala398Val Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala399Thr Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala420Pro Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala420Ser Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala420Val Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala500Pro Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala50Glu Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala50Val Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala517Thr Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala517Val Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala54Thr Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala54Val Conflicting Single submitter
Inherited ovarian cancer (without breast cancer)
MSH2 p.Ala573Thr Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala615Pro Conflicting Single submitter
hereditary neoplastic syndrome
MSH2 p.Ala623Gly Conflicting Single submitter
hereditary neoplastic syndrome
MSH2 p.Ala623Ser Conflicting Single submitter
hereditary neoplastic syndrome
MSH2 p.Ala623Thr Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala623Val Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala649Thr Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala649Val Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala689Asp Conflicting Single submitter
Lynch syndrome 1
MSH2 p.Ala70Thr Conflicting Single submitter
MSH2-related disorder
MSH2 p.Ala70Val Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala710Gly Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala714Val Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala72Ser Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala72Thr Conflicting Single submitter
hereditary neoplastic syndrome
MSH2 p.Ala763Val Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala765Thr Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala765Val Conflicting Single submitter
Lynch syndrome
MSH2 p.Ala789Ser Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala848Thr Conflicting Single submitter
hereditary neoplastic syndrome
MSH2 p.Ala869Glu Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala869Gly Conflicting Single submitter
hereditary neoplastic syndrome
MSH2 p.Ala869Val Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala870Val Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala913Gly Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala917Gly Conflicting Single submitter
hereditary neoplastic syndrome
MSH2 p.Ala917Thr Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Arg171Lys Conflicting Single submitter
hereditary neoplastic syndrome
MSH2 p.Arg21Cys Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Arg227Gly Conflicting Single submitter
hereditary neoplastic syndrome
MSH2 p.Arg243Gln Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Arg243Trp Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Arg35Gly Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Arg382Cys Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Arg382Gly Conflicting Single submitter
hereditary neoplastic syndrome
MSH2 p.Arg39Gln Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Arg39Leu Conflicting Single submitter
hereditary neoplastic syndrome
MSH2 p.Arg39Pro Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Arg406Gln Conflicting Single submitter
Breast and/or ovarian cancer
MSH2 p.Arg406Leu Conflicting Single submitter
Lynch syndrome
MSH2 p.Arg444Cys Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Arg444His Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Arg444Leu Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Arg482Gly Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Arg482Ser Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Arg501Lys Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Arg524Cys Conflicting Single submitter
hereditary neoplastic syndrome
MSH2 p.Arg524Gly Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Arg524His Conflicting Single submitter
mismatch repair cancer syndrome 2
MSH2 p.Arg534Cys Conflicting Single submitter
Muir-Torre syndrome
MSH2 p.Arg534His Conflicting Single submitter
Lynch syndrome 1
MSH2 p.Arg534Leu Conflicting Single submitter
Muir-Torre syndrome
MSH2 p.Arg621Gln Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Arg631Lys Conflicting Single submitter
Lynch syndrome 1
MSH2 p.Arg631Ser Conflicting Single submitter
hereditary neoplastic syndrome
MSH2 p.Arg638Ser Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Arg680Gly Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Arg711Gln Conflicting Single submitter
hereditary neoplastic syndrome
MSH2 p.Arg711Leu Conflicting Single submitter
Lynch syndrome 1
MSH2 p.Arg737Gly Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Arg752Lys Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Arg877Lys Conflicting Single submitter
hereditary neoplastic syndrome
MSH2 p.Arg929Gln Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Arg96Cys Conflicting Single submitter
Lynch syndrome
MSH2 p.Arg99Gly Conflicting Single submitter
hereditary neoplastic syndrome
MSH2 p.Asn109Ser Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asn138Ser Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asn139Asp Conflicting Single submitter
hereditary neoplastic syndrome
MSH2 p.Asn139Ser Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asn242Ser Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asn254Ser Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asn263His Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asn263Lys Conflicting Single submitter
Lynch syndrome
MSH2 p.Asn285Lys Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asn311Lys Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asn311Thr Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asn354Ser Conflicting Single submitter
Lynch syndrome 1
MSH2 p.Asn361Ser Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asn400Lys Conflicting Single submitter
hereditary neoplastic syndrome
MSH2 p.Asn412Ser Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asn477His Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asn547Ser Conflicting Single submitter
hereditary neoplastic syndrome
MSH2 p.Asn553Ser Conflicting Single submitter
Lynch syndrome
MSH2 p.Asn553Tyr Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asn560Ile Conflicting Single submitter
Lynch syndrome
MSH2 p.Asn583Ser Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asn596Ser Conflicting Single submitter
Inherited prostate cancer
MSH2 p.Asn613His Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asn613Tyr Conflicting Single submitter
hereditary neoplastic syndrome
MSH2 p.Asn671Asp Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asn671Lys Conflicting Single submitter
hereditary neoplastic syndrome
MSH2 p.Asn671Ser Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asn74His Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asn74Lys Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asn74Ser Conflicting Single submitter
hereditary nonpolyposis colon cancer
MSH2 p.Asn792Asp Conflicting Single submitter
hereditary neoplastic syndrome
MSH2 p.Asn792Lys Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asn792Ser Conflicting Single submitter
hereditary neoplastic syndrome
MSH2 p.Asn798Asp Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asn798Ser Conflicting Single submitter
Lynch syndrome
MSH2 p.Asn835Asp Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asn835His Conflicting Single submitter
Muir-Torre syndrome
MSH2 p.Asn835Ser Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asn84Tyr Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asn903Ser Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asn903Tyr Conflicting Single submitter
Muir-Torre syndrome
MSH2 p.Asn919Asp Conflicting Single submitter
hereditary neoplastic syndrome
MSH2 p.Asn919Ser Conflicting Single submitter
hereditary neoplastic syndrome
MSH2 p.Asn924Ser Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asp116His Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asp133Gly Conflicting Single submitter
hereditary neoplastic syndrome
MSH2 p.Asp180Gly Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asp180Val Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asp182Tyr Conflicting Single submitter
Lynch syndrome 1
MSH2 p.Asp209Glu Conflicting Single submitter
hereditary neoplastic syndrome

Predicted LoF vs a conflicting call 18

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.

MSH2 c.1387-1G>A Conflicting Single submitter
hereditary neoplastic syndrome
MSH2 c.1387-2A>G Conflicting Single submitter
hereditary neoplastic syndrome
MSH2 c.2005+2dup Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 c.2006-1G>T Conflicting Single submitter
hereditary neoplastic syndrome
MSH2 c.367-1_370del Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 c.367-2A>G Conflicting Single submitter
hereditary neoplastic syndrome
MSH2 c.646-1G>T Conflicting Single submitter
MSH2 c.942+2_942+4del Conflicting Single submitter
Lynch syndrome 1
MSH2 p.Arg877fs Conflicting Single submitter
Lynch syndrome 1
MSH2 p.Gln24Ter Conflicting Single submitter
Lynch syndrome 1
MSH2 p.Gln4Ter Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Glu12Ter Conflicting Single submitter
Lynch syndrome 1
MSH2 p.Glu16Ter Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Glu7Ter Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Gly40fs Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Gly862fs Conflicting Single submitter
hereditary neoplastic syndrome
MSH2 p.Ser900Ter Conflicting Single submitter
Lynch syndrome 1
MSH2 p.Val932fs Conflicting Single submitter
Hereditary nonpolyposis colorectal neoplasms

Predictors lean, ClinVar uncertain 1119

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 1119

MSH2 p.Asp603Asn Uncertain significance Expert panel
Lynch syndrome
MSH2 p.Glu878Asp Uncertain significance Expert panel
Lynch syndrome
MSH2 p.Gly504Arg Uncertain significance Expert panel
Lynch syndrome 1
MSH2 p.Gly669Arg Uncertain significance Expert panel
Lynch syndrome 1
MSH2 p.Met813Val Uncertain significance Expert panel
Lynch syndrome 1
MSH2 p.Val655Ile Uncertain significance Expert panel
Lynch syndrome 1
MSH2 p.Ala107Val Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala111Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Ala143Thr Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala15Val Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala207Ser Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala230Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Ala230Gly Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala266Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Ala272Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Ala305Val Uncertain significance Multiple submitters
Lynch syndrome
MSH2 p.Ala306Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Ala309Pro Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala365Asp Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala391Asp Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala391Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Ala398Thr Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala45Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Ala499Pro Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala499Thr Uncertain significance Multiple submitters
Lynch syndrome
MSH2 p.Ala500Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Ala50Thr Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala53Val Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala54Asp Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala54Pro Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala609Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Ala710Pro Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala710Val Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala714Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Ala727Pro Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala72Gly Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala739Thr Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala739Val Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala771Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Ala781Thr Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala804Thr Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala804Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Ala831Gly Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala834Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Ala844Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Ala848Val Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala913Ser Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala913Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Arg159Lys Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Arg214Lys Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Arg219Thr Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Arg21Pro Uncertain significance Multiple submitters
Lynch syndrome 1
MSH2 p.Arg227Ser Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Arg308Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Arg340Gly Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Arg340Thr Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Arg355Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Arg359Lys Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Arg35Cys Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Arg35His Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Arg373Lys Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Arg373Thr Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Arg382Leu Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Arg382Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Arg382Ser Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Arg39Trp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Arg444Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Arg482Thr Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Arg524Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Arg534Pro Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Arg55Pro Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Arg55Trp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Arg638Gly Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Arg638Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Arg680Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Arg680Leu Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Arg929Pro Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Arg96Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Arg96Pro Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Arg99Ser Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asn105Ser Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asn127Thr Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asn138Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Asn181His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Asn254Thr Uncertain significance Multiple submitters
Lynch syndrome
MSH2 p.Asn263Ser Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asn412Lys Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asn416Asp Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asn536Ile Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asn538Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Asn553Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Asn671His Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asn798Thr Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asn799Lys Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asn799Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Asn919His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Asn920Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Asn920Tyr Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asp116Glu Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asp116Val Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asp140Ala Uncertain significance Multiple submitters
Lynch syndrome
MSH2 p.Asp156Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Asp180Ala Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asp231Tyr Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asp236His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Asp240Ala Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asp240Asn Uncertain significance Multiple submitters
Lynch syndrome
MSH2 p.Asp303Asn Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asp303Gly Uncertain significance Multiple submitters
Lynch syndrome 1
MSH2 p.Asp303His Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asp319Asn Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asp386His Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asp38Tyr Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asp446Val Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asp459Gly Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asp459His Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asp459Tyr Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asp475Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Asp502Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Asp543Gly Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asp575Glu Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asp646Tyr Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asp646Val Uncertain significance Multiple submitters
Lynch syndrome 1
MSH2 p.Asp654Glu Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asp654Val Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asp660Glu Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asp748Asn Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asp748Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Asp758His Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asp864Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Asp91Gly Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asp91Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Cys176Phe Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Cys693Arg Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Cys778Trp Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Cys778Tyr Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Cys822Tyr Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Gln158Arg Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Gln160Arg Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Gln160Leu Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Gln160Lys Uncertain significance Multiple submitters
Lynch syndrome
MSH2 p.Gln193Pro Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Gln218Glu Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Gln218Lys Uncertain significance Multiple submitters
Lynch syndrome 1
MSH2 p.Gln324Glu Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Gln337Arg Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Gln339Pro Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Gln402His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Gln413Glu Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Gln419Arg Uncertain significance Multiple submitters
Lynch syndrome 1

Predictors split 845

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 845

MSH2 p.Ala2Thr Likely benign Expert panel
Lynch syndrome 1
MSH2 p.Arg96His Likely benign Expert panel
Lynch syndrome
MSH2 p.Asn127Ser Benign Expert panel
Lynch syndrome
MSH2 p.Asn331Asp Uncertain significance Expert panel
Lynch syndrome 1
MSH2 p.Gln264His Uncertain significance Expert panel
Lynch syndrome 1
MSH2 p.Gly315Val Likely benign Expert panel
Lynch syndrome
MSH2 p.Val102Ile Likely benign Expert panel
Lynch syndrome
MSH2 p.Ala107Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Ala120Thr Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala123Ser Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala123Thr Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala256Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Ala2Glu Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala499Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Ala604Gly Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala609Gly Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala700Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Ala710Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Ala727Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Ala765Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Ala771Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Ala789Asp Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala789Val Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ala791Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Ala791Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Ala791Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Arg159Ile Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Arg383Leu Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Arg389Leu Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Arg501Gly Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Arg737Thr Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asn115Lys Benign/Likely benign Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asn186Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Asn242His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Asn486Tyr Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asn535His Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asn536Asp Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asn596Ile Uncertain significance Multiple submitters
Lynch syndrome
MSH2 p.Asn792Ile Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asn84His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Asp140Val Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asp156His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Asp182Glu Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asp209His Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asp209Tyr Uncertain significance Multiple submitters
Lynch syndrome 1
MSH2 p.Asp282Ala Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asp282His Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asp283Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Asp283Tyr Likely benign Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asp283Val Benign/Likely benign Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asp319Tyr Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asp352Asn Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Asp352Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Asp461Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Asp597Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Asp742His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Asp742Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Asp823Asn Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Cys527Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Gln264Pro Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Gln288His Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Gln298Arg Uncertain significance Multiple submitters
Lynch syndrome
MSH2 p.Gln339Arg Uncertain significance Multiple submitters
Inherited polyposis and early onset colorectal cancer - germline testing
MSH2 p.Gln348Glu Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Gln348His Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Gln409Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Gln409Lys Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Gln429His Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Gln462His Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Gln518Pro Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Gln593His Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Gln593Leu Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Gln690His Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Gln816Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Gln879His Uncertain significance Multiple submitters
Lynch syndrome
MSH2 p.Glu16Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Glu177Asp Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Glu262Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Glu262Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Glu357Val Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Glu358Ala Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Glu371Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Glu371Val Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Glu378Lys Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Glu571Gly Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Glu590Lys Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Glu698Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Glu768Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Glu832Lys Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Glu876Gly Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Glu878Gly Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Glu881Lys Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Glu886Gly Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Glu902Gly Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Gly137Val Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Gly157Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Gly220Glu Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Gly221Glu Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Gly250Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Gly250Val Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Gly315Asp Uncertain significance Multiple submitters
Lynch syndrome
MSH2 p.Gly315Cys Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Gly504Cys Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Gly508Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Gly587Ala Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Gly587Ser Likely pathogenic Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Gly628Glu Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Gly62Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Gly683Ala Uncertain significance Multiple submitters
Lynch syndrome
MSH2 p.Gly715Ala Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.His610Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.His829Arg Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ile356Met Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ile356Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Ile411Met Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Ile454Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Ile511Met Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Ile584Val Likely benign Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Ile685Met Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Ile685Thr Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ile774Met Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ile841Met Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Ile883Thr Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Ile926Met Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Ile926Ser Uncertain significance Multiple submitters
MSH2-related disorder
MSH2 p.Leu187Ile Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Leu187Phe Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Leu190Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Leu191Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Leu213Met Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Leu223Val Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Leu387Val Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Leu390Val Uncertain significance Multiple submitters
Lynch syndrome
MSH2 p.Leu421Val Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Leu440Phe Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Leu469Phe Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Leu513Val Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Leu533Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Leu709Val Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Leu736Val Uncertain significance Multiple submitters
mismatch repair cancer syndrome 2
MSH2 p.Leu805Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Leu93Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Leu9Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Lys113Asn Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Lys113Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Lys151Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Lys172Arg Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms
MSH2 p.Lys235Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MSH2 p.Lys249Thr Uncertain significance Multiple submitters
Lynch syndrome 1
MSH2 p.Lys332Met Uncertain significance Multiple submitters
Hereditary nonpolyposis colorectal neoplasms

All MSH2 variants

Pathogenic 1177

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

c.1076+1G>A Expert panel Lynch syndrome
c.1077-?_1276+?dup200 Expert panel Lynch syndrome
c.1077-135_1276+119dup Expert panel Lynch syndrome
c.1077-?_1386+?del Expert panel Lynch syndrome
c.1077-?_1661+?del Expert panel Lynch syndrome
c.1077-?_2005+?del Expert panel Lynch syndrome
c.1077-220_1276+6245del Expert panel Lynch syndrome
c.1077-2A>C Expert panel Lynch syndrome 1
c.1077-?_(*272_? Expert panel Lynch syndrome
c.(1276+1_1277-1 Expert panel Lynch syndrome
c.1276+1G>A Expert panel Lynch syndrome
c.1276+232_1386+3798del Expert panel Lynch syndrome
c.1277-?_1759+?del Expert panel Lynch syndrome
c.1277-2A>G Expert panel Lynch syndrome
c.1277-4076_1386+1819del Expert panel Lynch syndrome 1
c.1277-571_1386+2327del Expert panel Lynch syndrome
c.1277-6224_1386+4836del Expert panel Lynch syndrome 1
c.1277-6284_1386+4776del Expert panel Lynch syndrome 1
c.1277-?_(*272_? Expert panel Lynch syndrome
c.1387-?_1661+?del Expert panel Lynch syndrome
c.1387-?_1661+?dup275 Expert panel Lynch syndrome
c.1387-?_2458+?del Expert panel Lynch syndrome
c.1387-3976_1662-364del Expert panel Lynch syndrome
c.1387-9T>A Expert panel Lynch syndrome 1
c.1387-?_(*272_? Expert panel Lynch syndrome
c.1511-?_2005+?del Expert panel Lynch syndrome
c.1511-2A>G Expert panel Lynch syndrome
c.1662-?_1759+?del Expert panel Lynch syndrome
c.1662-1G>A Expert panel Lynch syndrome
c.1662-?_2458+?del Expert panel Lynch syndrome
c.1662-374_2458+467del Expert panel Lynch syndrome
c.1662-?_(*272_? Expert panel Lynch syndrome
c.1759+2T>A Expert panel Lynch syndrome
c.1759+305_2006-34del Expert panel Lynch syndrome
c.1760-?_2005+?del Expert panel Lynch syndrome
c.1760-?_2210+?del Expert panel Lynch syndrome
c.1760-361_2634+838del Expert panel Lynch syndrome
c.1760-?_(*272_? Expert panel Lynch syndrome
c.2005+2T>C Expert panel Lynch syndrome
c.211+1566_1277-3954del Expert panel Lynch syndrome
c.212-?_1276+?del Expert panel Lynch syndrome
c.212-?_1386+?del Expert panel Lynch syndrome
c.212-?_1510+?del Expert panel Lynch syndrome
c.212-1G>A Expert panel Lynch syndrome
c.212-?_2458+?del Expert panel Lynch syndrome
c.212-478T>G Expert panel Lynch syndrome
c.212-?_645+?del Expert panel Lynch syndrome
c.2210+116_2562del Expert panel Lynch syndrome
c.2211-?_2458+?del Expert panel Lynch syndrome
c.2459-?_2634+?del Expert panel Lynch syndrome
c.2459-?_(*272_? Expert panel Lynch syndrome
c.2634+5G>C Expert panel Lynch syndrome
c.2635-?_(*272_? Expert panel Lynch syndrome
c.367-?_1276+?del Expert panel Lynch syndrome
c.367-?_1386+?del Expert panel Lynch syndrome
c.367-?_1759+?del Expert panel Lynch syndrome
c.367-371_646-513del Expert panel Lynch syndrome
c.367-452_646-722del Expert panel Lynch syndrome
c.367-466_645+658del Expert panel Lynch syndrome
c.367-681_646-956del Expert panel Lynch syndrome
c.367-?_942+?del Expert panel Lynch syndrome
c.645+1G>A Expert panel Lynch syndrome
c.645+539_1077-3451del Expert panel Lynch syndrome
c.645+791_1076+4894del Expert panel Lynch syndrome
c.645+967_1076+5075del Expert panel Lynch syndrome
c.646-?_1076+?del Expert panel Lynch syndrome
c.646-?_1276+?del Expert panel Lynch syndrome
c.646-?_1386+?del Expert panel Lynch syndrome
c.646-3T>G Expert panel Lynch syndrome
c.646-?_942+?del Expert panel Lynch syndrome
c.646-?_(*272_? Expert panel Lynch syndrome
c.792+10_943-448del Expert panel Lynch syndrome
c.792+1G>A Expert panel Lynch syndrome
c.793-?_1276+?del484 Expert panel Lynch syndrome
c.793-?_1386+?deldel594 Expert panel Lynch syndrome
c.793-6_942+450del Expert panel Lynch syndrome
c.793-?_942+?del Expert panel Lynch syndrome
c.942+3A>T Expert panel Lynch syndrome
c.943-?_1076+?del Expert panel Lynch syndrome
c.943-926_1077-1449del Expert panel Lynch syndrome
c.970_971ins4 Expert panel Lynch syndrome
c.972_973insNM_002133.2:c.737-1292_737-1109 Expert panel Lynch syndrome
c.-11844_1077-6021delins155 Expert panel Lynch syndrome
c.-35298_1276+5697del Expert panel Lynch syndrome
c.-47156_1277-4980del Expert panel Lynch syndrome
c.(?_-68 Expert panel Lynch syndrome
c.-75398_1759+1708del Expert panel Lynch syndrome
p.? Expert panel Lynch syndrome
p.Ala123fs Expert panel Lynch syndrome
p.Ala398fs Expert panel Lynch syndrome
p.Ala573fs Expert panel Lynch syndrome
p.Ala636Pro Expert panel Lynch syndrome
p.Ala834fs Expert panel Lynch syndrome
p.Arg214_Gln215insTer Expert panel Lynch syndrome
p.Arg359Ser Expert panel Lynch syndrome
p.Arg359Ter Expert panel Lynch syndrome
p.Arg373fs Expert panel Lynch syndrome
p.Arg383Ter Expert panel Lynch syndrome
p.Arg389Ter Expert panel Lynch syndrome
p.Arg406Ter Expert panel Lynch syndrome
p.Arg482fs Expert panel Lynch syndrome
p.Arg482Ter Expert panel Lynch syndrome
p.Arg621Ter Expert panel Lynch syndrome
p.Arg638fs Expert panel Lynch syndrome
p.Arg680Ter Expert panel Lynch syndrome
p.Arg711Ter Expert panel Lynch syndrome
p.Asn115fs Expert panel Lynch syndrome
p.Asn139fs Expert panel Lynch syndrome
p.Asn263fs Expert panel Lynch syndrome
p.Asn285fs Expert panel Lynch syndrome
p.Asn596del Expert panel Lynch syndrome
p.Asp116fs Expert panel Lynch syndrome
p.Asp133fs Expert panel Lynch syndrome
p.Asp236fs Expert panel Lynch syndrome
p.Asp49fs Expert panel Lynch syndrome
p.Asp543fs Expert panel Lynch syndrome
p.Asp742_Ser743insTer Expert panel Lynch syndrome
p.Cys176_Glu177delinsTer Expert panel Lynch syndrome
p.Cys199Arg Expert panel Lynch syndrome
p.Cys333Tyr Expert panel Lynch syndrome 1
p.Cys641_Val642insTer Expert panel Lynch syndrome
p.Cys697Arg Expert panel Lynch syndrome
p.Cys697Phe Expert panel Lynch syndrome
p.Cys697Ter Expert panel Lynch syndrome
p.Cys778Ter Expert panel Lynch syndrome
p.Cys822_Asp823delinsTer Expert panel Lynch syndrome
p.Cys843_Ala844insTer Expert panel Lynch syndrome
p.Gln10Ter Expert panel Lynch syndrome
p.Gln158Ter Expert panel Lynch syndrome
p.Gln160Ter Expert panel Lynch syndrome
p.Gln170Ter Expert panel Lynch syndrome
p.Gln183Ter Expert panel Lynch syndrome
p.Gln193Ter Expert panel Lynch syndrome
p.Gln215Ter Expert panel Lynch syndrome
p.Gln218Ter Expert panel Lynch syndrome
p.Gln239Ter Expert panel Lynch syndrome
p.Gln252Ter Expert panel Lynch syndrome
p.Gln288Ter Expert panel Lynch syndrome
p.Gln298Ter Expert panel Lynch syndrome
p.Gln314= Expert panel Lynch syndrome
p.Gln324Ter Expert panel Lynch syndrome
p.Gln337Ter Expert panel Lynch syndrome
p.Gln344Ter Expert panel Lynch syndrome
p.Gln374Ter Expert panel Lynch syndrome
p.Gln377Ter Expert panel Lynch syndrome
p.Gln395Ter Expert panel Lynch syndrome
p.Gln397Ter Expert panel Lynch syndrome
p.Gln402fs Expert panel Lynch syndrome
p.Gln409fs Expert panel Lynch syndrome
p.Gln419Ter Expert panel Lynch syndrome
p.Gln429Ter Expert panel Lynch syndrome
p.Gln493Ter Expert panel Lynch syndrome
p.Gln510Ter Expert panel Lynch syndrome
p.Gln518fs Expert panel Lynch syndrome
p.Gln518Ter Expert panel Lynch syndrome
p.Gln574Ter Expert panel Lynch syndrome
p.Gln593Ter Expert panel Lynch syndrome
p.Gln601Ter Expert panel Lynch syndrome
p.Gln61Ter Expert panel Lynch syndrome
p.Gln629Ter Expert panel Lynch syndrome
p.Gln718Ter Expert panel Lynch syndrome
p.Gln76Ter Expert panel Lynch syndrome
p.Gln816Ter Expert panel Lynch syndrome
p.Gln824Ter Expert panel Lynch syndrome
p.Gln846Ter Expert panel Lynch syndrome
p.Gln861Ter Expert panel Lynch syndrome
p.Gln879Ter Expert panel Lynch syndrome 1
p.Gln885Ter Expert panel Lynch syndrome 1
p.Gln97Ter Expert panel Lynch syndrome
p.Glu101Ter Expert panel Lynch syndrome
p.Glu12fs Expert panel Lynch syndrome
p.Glu177Ter Expert panel Lynch syndrome
p.Glu188_Leu190del Expert panel Lynch syndrome
p.Glu198fs Expert panel Lynch syndrome
p.Glu205Ter Expert panel Lynch syndrome
p.Glu226fs Expert panel Lynch syndrome
p.Glu28Ter Expert panel Lynch syndrome
p.Glu422Ter Expert panel Lynch syndrome
p.Glu452Ter Expert panel Lynch syndrome
p.Glu464fs Expert panel Lynch syndrome
p.Glu467Ter Expert panel Lynch syndrome
p.Glu483fs Expert panel Lynch syndrome
p.Glu483Ter Expert panel Lynch syndrome
p.Glu48Ter Expert panel Lynch syndrome
p.Glu530fs Expert panel Lynch syndrome
p.Glu56Ter Expert panel Lynch syndrome
p.Glu580Ter Expert panel Lynch syndrome
p.Glu731Ter Expert panel Lynch syndrome
p.Glu859Ter Expert panel Lynch syndrome
p.Glu878= Expert panel Lynch syndrome
p.Glu878fs Expert panel Lynch syndrome
p.Gly162Arg Expert panel Lynch syndrome
p.Gly195delinsGluGluThrArgThrValTer Expert panel Lynch syndrome
p.Gly204Ter Expert panel Lynch syndrome
p.Gly287Ter Expert panel Lynch syndrome
p.Gly338Glu Expert panel Lynch syndrome
p.Gly587Alafs Expert panel Lynch syndrome
p.Gly587Arg Expert panel Lynch syndrome
p.Gly62_Val63insTer Expert panel Lynch syndrome
p.Gly674fs Expert panel Lynch syndrome
p.Gly692fs Expert panel Lynch syndrome
p.Gly715fs Expert panel Lynch syndrome
p.Gly71Aspfs*2 Expert panel Lynch syndrome
p.Gly721fs Expert panel Lynch syndrome
p.Gly759Ter Expert panel Lynch syndrome
p.His639Tyr Expert panel Lynch syndrome
p.His783fs Expert panel Lynch syndrome
p.Ile679fs Expert panel Lynch syndrome
p.Ile704Metfs Expert panel Lynch syndrome
p.Ile735fs Expert panel Lynch syndrome
p.Ile883fs Expert panel Lynch syndrome 1
p.Leu11fs Expert panel Lynch syndrome
p.Leu173Arg Expert panel Lynch syndrome 1
p.Leu173fs Expert panel Lynch syndrome
p.Leu187Arg Expert panel Lynch syndrome
p.Leu187Pro Expert panel Lynch syndrome
p.Leu191del Expert panel Lynch syndrome
p.Leu279fs Expert panel Lynch syndrome
p.Leu310Pro Expert panel Lynch syndrome
p.Leu330Pro Expert panel Lynch syndrome
p.Leu431Ter Expert panel Lynch syndrome
p.Leu440fs Expert panel Lynch syndrome
p.Leu440Pro Expert panel Lynch syndrome
p.Leu458Ter Expert panel Lynch syndrome
p.Leu744Ter Expert panel Lynch syndrome
p.Leu75fs Expert panel Lynch syndrome
p.Leu811Ter Expert panel Lynch syndrome
p.Leu849fs Expert panel Lynch syndrome
p.Leu888fs Expert panel Lynch syndrome 1
p.Lys229Ter Expert panel Lynch syndrome
p.Lys246fs Expert panel Lynch syndrome
p.Lys246Ter Expert panel Lynch syndrome
p.Lys301Ter Expert panel Lynch syndrome
p.Lys430Ter Expert panel Lynch syndrome
p.Lys449Ter Expert panel Lynch syndrome
p.Lys555_Leu556insTer Expert panel Lynch syndrome
p.Lys555fs Expert panel Lynch syndrome
p.Lys565Ter Expert panel Lynch syndrome
p.Lys567fs Expert panel Lynch syndrome
p.Lys567Ter Expert panel Lynch syndrome
p.Lys82_Asp91delinsTer Expert panel Lynch syndrome
p.Lys82Ter Expert panel Lynch syndrome
p.Met152fs Expert panel Lynch syndrome
p.Met300fs Expert panel Lynch syndrome
p.Met453Lys Expert panel Lynch syndrome
p.Met492_Gln493delinsIleTer Expert panel Lynch syndrome
p.Met672fs Expert panel Lynch syndrome
p.Met688Arg Expert panel Lynch syndrome
p.Met779fs Expert panel Lynch syndrome
p.Phe136fs Expert panel Lynch syndrome
p.Phe366_Val367insTer Expert panel Lynch syndrome
p.Phe836fs Expert panel Lynch syndrome
p.Phe85fs Expert panel Lynch syndrome
p.Pro196fs Expert panel Lynch syndrome
p.Pro336fs Expert panel Lynch syndrome
p.Pro349Leu Expert panel Lynch syndrome
p.Pro591fs Expert panel Lynch syndrome
p.Pro622Leu Expert panel Lynch syndrome
p.Pro696Leu Expert panel Lynch syndrome
p.Ser554Cys Expert panel Lynch syndrome ⚠
p.Ser554Gly Expert panel Lynch syndrome ⚠
p.Ser554Thr Expert panel Lynch syndrome ⚠
p.Ser558_Leu559insTer Expert panel Lynch syndrome
p.Ser743Ter Expert panel Lynch syndrome
p.Ser77fs Expert panel Lynch syndrome
p.Ser860Ter Expert panel Lynch syndrome
p.Thr293_Phe294insTer Expert panel Lynch syndrome
p.Thr438_Ser445delinsPheSerLysPheGlnGluMetIle Expert panel Lynch syndrome
p.Thr754fs Expert panel Lynch syndrome
p.Thr810fs Expert panel Lynch syndrome
p.Trp345Ter Expert panel Lynch syndrome
p.Trp764Ter Expert panel Lynch syndrome
p.Tyr43Ter Expert panel Lynch syndrome
p.Tyr563fs Expert panel Lynch syndrome
p.Tyr588Ter Expert panel Lynch syndrome
p.Tyr769fs Expert panel Lynch syndrome
p.Tyr874Ter Expert panel Lynch syndrome
p.Tyr98fs Expert panel Lynch syndrome
p.Val161Asp Expert panel Lynch syndrome 1
p.Val163Asp Expert panel Lynch syndrome
p.Val163Gly Expert panel Lynch syndrome 1
p.Val200Asp Expert panel Lynch syndrome 1
p.Val265Ilefs*29 Expert panel Lynch syndrome
p.Val695Met Expert panel Lynch syndrome
p.Val705fs Expert panel Lynch syndrome
p.Val797fs Expert panel Lynch syndrome
c.1077_1276del Multiple submitters Lynch syndrome
c.1077-1G>A Multiple submitters hereditary neoplastic syndrome
c.1661+1G>C Multiple submitters hereditary neoplastic syndrome
c.1662-2A>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1759+1G>C Multiple submitters hereditary neoplastic syndrome
c.211+1G>C Multiple submitters hereditary nonpolyposis colon cancer
c.211+1G>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.211+2T>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.212-1G>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.2459-954A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.2634+2T>C Multiple submitters Lynch syndrome
c.2634+2T>G Multiple submitters hereditary neoplastic syndrome
c.646-1G>C Multiple submitters hereditary neoplastic syndrome
c.792+1_792+2inv Multiple submitters Hereditary nonpolyposis colorectal neoplasms

Pathogenic/Likely pathogenic 149

c.1076+1G>C Multiple submitters hereditary neoplastic syndrome
c.1077-66_1146del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1276+2T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1277-1G>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1277-2A>T Multiple submitters Lynch syndrome
c.1386+2T>C Multiple submitters Lynch syndrome 1
c.1387-2del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1510+1G>A Multiple submitters Lynch syndrome
c.1510+1G>C Multiple submitters Lynch syndrome 1
c.1510+1G>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1510+2T>A Multiple submitters hereditary neoplastic syndrome
c.1510+2T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1511-1G>A Multiple submitters Lynch syndrome
c.1511-1G>T Multiple submitters hereditary neoplastic syndrome
c.1511-2A>C Multiple submitters hereditary neoplastic syndrome
c.1661+2T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1661+2T>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1661+5G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1661+5G>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1662-2A>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1759+1G>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1759+3A>G Multiple submitters hereditary neoplastic syndrome
c.1760-2_1783del Multiple submitters Lynch syndrome 1
c.1760-2A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1906_2005+8del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.2005+2T>G Multiple submitters hereditary neoplastic syndrome
c.2006-1G>A Multiple submitters hereditary neoplastic syndrome
c.2006-2A>T Multiple submitters hereditary nonpolyposis colon cancer
c.2006-7_2022del Multiple submitters hereditary neoplastic syndrome
c.211+1G>A Multiple submitters hereditary neoplastic syndrome
c.212-2A>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.212-2A>T Multiple submitters Lynch syndrome 1
c.2211-10T>A Multiple submitters Lynch syndrome
c.2211-2A>G Multiple submitters Inherited MMR deficiency (Lynch syndrome)
c.2458+1G>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.2459-12A>G Multiple submitters Lynch syndrome 1
c.2459-1G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.2459-2A>C Multiple submitters hereditary neoplastic syndrome
c.2459-2A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.2459-6_2459-2del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.2635-1G>A Multiple submitters hereditary neoplastic syndrome
c.2635-1G>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.2635-24A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.366+1G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.366+2T>C Multiple submitters Lynch syndrome
c.645+2T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.645+2T>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.792+1del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.792+1G>C Multiple submitters MSH2-related disorder
c.792+2T>C Multiple submitters hereditary neoplastic syndrome
c.792+2T>G Multiple submitters hereditary neoplastic syndrome
c.793-1G>A Multiple submitters Lynch syndrome 1
c.793-1G>C Multiple submitters hereditary neoplastic syndrome
c.793-1G>T Multiple submitters hereditary neoplastic syndrome
c.793-2A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.793-2A>T Multiple submitters Lynch syndrome 1
c.942+2T>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.943-1G>T Multiple submitters hereditary nonpolyposis colon cancer
p.Ala604Asp Multiple submitters hereditary neoplastic syndrome
p.Ala700Glu Multiple submitters hereditary neoplastic syndrome
p.Ala763Pro Multiple submitters Lynch syndrome 1
p.Arg214fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Arg359Thr Multiple submitters hereditary nonpolyposis colon cancer
p.Arg621Gly Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Arg621Leu Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Arg621Pro Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Arg680Pro Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Arg711Pro Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Arg877Ter Multiple submitters Lynch syndrome 1
p.Asn254fs Multiple submitters hereditary nonpolyposis colon cancer
p.Asn388fs Multiple submitters hereditary neoplastic syndrome
p.Asn465fs Multiple submitters hereditary nonpolyposis colon cancer
p.Asn613fs Multiple submitters hereditary neoplastic syndrome
p.Asn671Ile Multiple submitters breast-ovarian cancer, familial, susceptibility to, 1
p.Asp603Val Multiple submitters hereditary neoplastic syndrome
p.Cys333Phe Multiple submitters hereditary neoplastic syndrome
p.Cys333Trp Multiple submitters hereditary neoplastic syndrome
p.Cys822Ter Multiple submitters Lynch syndrome 1
p.Cys843fs Multiple submitters hereditary neoplastic syndrome
p.Cys873Ter Multiple submitters Muir-Torre syndrome
p.Gln130Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Gln288fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Gln339Ter Multiple submitters hereditary neoplastic syndrome
p.Gln462fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Gln462Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Gln545Ter Multiple submitters Lynch syndrome 1
p.Gln645Ter Multiple submitters hereditary neoplastic syndrome
p.Gln793Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Glu114Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Glu464Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Glu701Ter Multiple submitters Lynch syndrome
p.Glu809Ter Multiple submitters Lynch syndrome
p.Glu881Ter Multiple submitters hereditary neoplastic syndrome
p.Glu886Ter Multiple submitters MSH2-related disorder
p.Gly149_Val150insTer Multiple submitters Lynch syndrome 1
p.Gly164Trp Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Gly247fs Multiple submitters hereditary nonpolyposis colon cancer
p.Gly250Ter Multiple submitters hereditary nonpolyposis colon cancer
p.Gly338Arg Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Gly338Val Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Gly426Arg Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Gly669fs Multiple submitters hereditary neoplastic syndrome
p.Gly692Arg Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Gly692Trp Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Gly692Val Multiple submitters hereditary nonpolyposis colon cancer
p.Gly71Arg Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Gly761Arg Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Ile217fs Multiple submitters hereditary neoplastic syndrome
p.Ile356Arg Multiple submitters hereditary neoplastic syndrome
p.Ile356Lys Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Ile454Arg Multiple submitters hereditary nonpolyposis colon cancer
p.Ile581fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Ile651_Pro652insTer Multiple submitters Lynch syndrome 1
p.Ile651fs Multiple submitters hereditary neoplastic syndrome
p.Ile685Arg Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Ile774Val Multiple submitters Lynch syndrome 1 ⚠
p.Ile828fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Leu119Ter Multiple submitters Lynch syndrome 1
p.Leu173Pro Multiple submitters hereditary nonpolyposis colon cancer
p.Leu175Pro Multiple submitters hereditary neoplastic syndrome
p.Leu270Pro Multiple submitters Lynch syndrome 1
p.Leu291_Thr292insTer Multiple submitters Lynch syndrome 1
p.Leu556Ser Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Leu595Arg Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Leu595Pro Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Leu687Pro Multiple submitters hereditary nonpolyposis colon cancer
p.Leu787Arg Multiple submitters hereditary nonpolyposis colon cancer
p.Leu851fs Multiple submitters hereditary neoplastic syndrome
p.Lys29Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Lys334fs Multiple submitters Lynch syndrome 1
p.Lys59fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Lys65Ter Multiple submitters MSH2-related disorder
p.Met26fs Multiple submitters Lynch syndrome
p.Met894fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Phe23fs Multiple submitters hereditary neoplastic syndrome
p.Phe447fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Phe694Ser Multiple submitters Lynch syndrome
p.Pro618fs Multiple submitters hereditary neoplastic syndrome
p.Pro622Arg Multiple submitters hereditary neoplastic syndrome
p.Pro622Thr Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Ser297fs Multiple submitters MSH2-related disorder
p.Ser554Asn Multiple submitters Muir-Torre syndrome ⚠
p.Thr677Arg Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Thr806fs Multiple submitters hereditary neoplastic syndrome
p.Tyr165fs Multiple submitters hereditary neoplastic syndrome
p.Tyr521Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Tyr522Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Tyr588fs Multiple submitters hereditary neoplastic syndrome
p.Val367fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms

Likely pathogenic 255

c.1076+1G>T Expert panel Lynch syndrome
c.1077-1G>C Expert panel Lynch syndrome
c.1077-1G>T Expert panel Lynch syndrome
c.1077-2A>G Expert panel Lynch syndrome
c.1077-2A>T Expert panel Lynch syndrome
c.1276+1G>C Expert panel Lynch syndrome
c.1276+1G>T Expert panel Lynch syndrome
c.1276+2T>A Expert panel Lynch syndrome
c.1277-1G>A Expert panel Lynch syndrome
c.1277-1G>C Expert panel Lynch syndrome
c.1277-2A>C Expert panel Lynch syndrome
c.1386+1G>A Expert panel Lynch syndrome
c.1386+1G>C Expert panel Lynch syndrome
c.1386+1G>T Expert panel Lynch syndrome
c.1387-1G>T Expert panel Lynch syndrome
c.1661+1G>A Expert panel Lynch syndrome
c.1661+1G>T Expert panel Lynch syndrome
c.1662-2A>G Expert panel Lynch syndrome
c.1759+1G>A Expert panel Lynch syndrome
c.1759+2T>C Expert panel Lynch syndrome
c.1760-1G>A Expert panel Lynch syndrome
c.2005+1G>A Expert panel Lynch syndrome
c.2005+1G>C Expert panel Lynch syndrome
c.2005+1G>T Expert panel Lynch syndrome
c.2005+2_2005+12del Expert panel Lynch syndrome
c.2005+2del Expert panel Lynch syndrome
c.2006-1G>C Expert panel Lynch syndrome
c.2006-2A>G Expert panel Lynch syndrome
c.212-2A>G Expert panel Lynch syndrome
c.2210+1G>A Expert panel Lynch syndrome
c.2210+1G>C Expert panel Lynch syndrome
c.2211-1G>T Expert panel Lynch syndrome
c.2211-2A>C Expert panel Lynch syndrome
c.2211-2A>T Expert panel Lynch syndrome
c.2458+1G>A Expert panel Lynch syndrome
c.2634+1G>A Expert panel Lynch syndrome
c.2634+1G>T Expert panel Lynch syndrome
c.2635-1G>T Expert panel Lynch syndrome
c.2635-2A>G Expert panel Lynch syndrome 1
c.366+1G>T Expert panel Lynch syndrome
c.367-1G>A Expert panel Lynch syndrome
c.645+1G>T Expert panel Lynch syndrome
c.646-2A>G Expert panel Lynch syndrome
c.646-3_654del Expert panel Lynch syndrome
c.793-2A>C Expert panel Lynch syndrome
c.942+1G>T Expert panel Lynch syndrome
c.942+2del Expert panel Lynch syndrome
c.942+2T>G Expert panel Lynch syndrome
c.943-1G>A Expert panel Lynch syndrome
c.943-1G>C Expert panel Lynch syndrome
c.943-2A>G Expert panel Lynch syndrome
c.-78_-77del Expert panel Lynch syndrome
p.Arg524Pro Expert panel Lynch syndrome
p.Asp603Gly Expert panel Lynch syndrome
p.Asp660Gly Expert panel Lynch syndrome ⚠
p.Cys697Tyr Expert panel Lynch syndrome 1
p.Glu101_Val102del Expert panel Lynch syndrome
p.Glu749Lys Expert panel Lynch syndrome
p.Gly164Glu Expert panel Lynch syndrome
p.Gly674Arg Expert panel Lynch syndrome
p.Gly674Asp Expert panel Lynch syndrome
p.Gly751Arg Expert panel Lynch syndrome 1
p.Leu341Pro Expert panel Lynch syndrome
p.Leu556Trp Expert panel Lynch syndrome 1
p.Leu93Phe Expert panel Lynch syndrome
p.Pro349Arg Expert panel Lynch syndrome 1
p.Pro652His Expert panel Lynch syndrome
p.Tyr165Asp Expert panel Lynch syndrome
c.1076+1dup Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1386+2T>G Multiple submitters hereditary neoplastic syndrome
c.1387-2A>T Multiple submitters Lynch syndrome 1
c.1510+2_1510+50del Multiple submitters hereditary neoplastic syndrome
c.2005+3_2005+14del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.2005+3A>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.201_211+3del Multiple submitters Lynch syndrome 1
c.207_211+42del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.2210+2T>A Multiple submitters hereditary neoplastic syndrome
c.2211-1G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.2211-1G>C Multiple submitters Lynch syndrome 1
c.2458+1G>C Multiple submitters hereditary neoplastic syndrome
c.2458+2T>C Multiple submitters hereditary neoplastic syndrome
c.2458+976A>G Multiple submitters hereditary neoplastic syndrome
c.2459-11A>G Multiple submitters hereditary neoplastic syndrome
c.2459-1G>C Multiple submitters hereditary neoplastic syndrome
c.2634+5G>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.2635-2A>C Multiple submitters hereditary neoplastic syndrome
c.2635-3C>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.646-2A>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.646-2A>T Multiple submitters hereditary neoplastic syndrome
c.942+1del Multiple submitters Lynch syndrome
p.Ala600Val Multiple submitters hereditary neoplastic syndrome
p.Ala689Pro Multiple submitters hereditary neoplastic syndrome
p.Arg359Gly Multiple submitters hereditary neoplastic syndrome
p.Arg359Ile Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Asn671Tyr Multiple submitters hereditary neoplastic syndrome
p.Asp603Tyr Multiple submitters hereditary neoplastic syndrome
p.Asp748His Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Cys199Tyr Multiple submitters MSH2-related disorder
p.Cys693Tyr Multiple submitters hereditary neoplastic syndrome
p.Cys697Trp Multiple submitters hereditary neoplastic syndrome
p.Gln690Lys Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Gly587Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly674Ser Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.His610Pro Multiple submitters hereditary neoplastic syndrome
p.His801Pro Multiple submitters hereditary neoplastic syndrome
p.Ile708Asn Multiple submitters hereditary neoplastic syndrome
p.Leu440Arg Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Leu478Arg Multiple submitters hereditary neoplastic syndrome
p.Leu602Pro Multiple submitters hereditary nonpolyposis colon cancer
p.Leu687Arg Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Phe523Ser Multiple submitters hereditary neoplastic syndrome
p.Phe694Ile Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Pro349Ser Multiple submitters Inherited MMR deficiency (Lynch syndrome)
p.Pro349Thr Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Pro622Gln Multiple submitters hereditary nonpolyposis colon cancer
p.Ser269Leu Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.106_212-1229del Single submitter Hereditary nonpolyposis colorectal neoplasms
c.1076+1del Single submitter Lynch syndrome 1
c.1076+2T>C Single submitter hereditary neoplastic syndrome
c.1077-?_1276+?dup Single submitter Lynch syndrome
c.1077-?_*279+?del Single submitter Lynch syndrome
c.1270_1276+7del Single submitter hereditary neoplastic syndrome
c.1272_1276+6del Single submitter Lynch syndrome 1
c.1276+3A>C Single submitter hereditary neoplastic syndrome
c.1380_1386+11del Single submitter hereditary neoplastic syndrome
c.1416_1510+369del Single submitter Hereditary nonpolyposis colorectal neoplasms
c.1427_1510+38delinsATTTGATCCTAATC Single submitter hereditary neoplastic syndrome
c.1442_1443insALU Single submitter hereditary neoplastic syndrome
c.1659_1661+2delinsGAGGG Single submitter Lynch syndrome 1
c.1659_1661+8del Single submitter hereditary neoplastic syndrome
c.1660_1661+3del Single submitter hereditary neoplastic syndrome
c.1661+1del Single submitter Lynch syndrome 1
c.1662-12_1677del Single submitter Hereditary nonpolyposis colorectal neoplasms
c.1662-17dup Single submitter hereditary breast carcinoma
c.1662-1G>T Single submitter hereditary neoplastic syndrome
c.1760_2458del Single submitter
c.1760-15_1803dup Single submitter hereditary neoplastic syndrome
c.182_211+1delinsC Single submitter hereditary neoplastic syndrome
c.1998_2005+11del Single submitter hereditary neoplastic syndrome
c.2005+2T>A Single submitter Lynch syndrome 1
c.2006-1_2012del Single submitter hereditary neoplastic syndrome
c.2006-12T>G Single submitter Lynch syndrome 1
c.2006-2del Single submitter Hereditary nonpolyposis colorectal neoplasms
c.2006-3T>G Single submitter hereditary neoplastic syndrome
c.2006-4_2006-2delinsCT Single submitter Lynch syndrome 1
c.2006-6_2006-2delinsCTGTG Single submitter Lynch syndrome 1
c.203_211+9delinsTGCCCGCG Single submitter hereditary neoplastic syndrome
c.211+2del Single submitter Hereditary nonpolyposis colorectal neoplasms
c.212-15_212-14insALU Single submitter hereditary neoplastic syndrome
c.212-?_366+?dup Single submitter Lynch syndrome
c.2210_2210+1delinsTA Single submitter hereditary neoplastic syndrome
c.2210+1G>T Single submitter hereditary neoplastic syndrome
c.2210+2T>C Single submitter Hereditary nonpolyposis colorectal neoplasms
c.2211-15_2212del Single submitter hereditary neoplastic syndrome
c.2211-3_2211-2delinsG Single submitter hereditary neoplastic syndrome
c.2459-1G>T Single submitter Lynch syndrome 1
c.2459-2A>T Single submitter hereditary neoplastic syndrome
c.2459-5_2460del Single submitter hereditary neoplastic syndrome
c.2635-2A>T Single submitter hereditary neoplastic syndrome
c.2635-2del Single submitter Lynch syndrome 1
c.2635-6T>A Single submitter Hereditary nonpolyposis colorectal neoplasms
c.2677_*272+580del981 Single submitter hereditary neoplastic syndrome
c.366+1_366+2insAAGAATGATTGGTATTTGGCATATAAGG Single submitter hereditary neoplastic syndrome
c.(366+1_367-1 Single submitter hereditary neoplastic syndrome
c.366+1dup Single submitter hereditary neoplastic syndrome
c.366+1G>C Single submitter Lynch syndrome 1
c.366+2_366+5delinsCA Single submitter hereditary neoplastic syndrome
c.366+2T>G Single submitter hereditary neoplastic syndrome
c.367-400_476del Single submitter Lynch syndrome 1
c.368_645+1del Single submitter Lynch syndrome 1
c.489_490insALU Single submitter hereditary neoplastic syndrome
c.640_645+1del Single submitter Lynch syndrome 1
c.642_645+3delinsCAAATTG Single submitter Lynch syndrome 1
c.645+2dup Single submitter hereditary neoplastic syndrome
c.645+2T>A Single submitter Hereditary nonpolyposis colorectal neoplasms
c.646-1_648del Single submitter Hereditary nonpolyposis colorectal neoplasms
c.646-19_661del Single submitter hereditary neoplastic syndrome
c.646-5_655del Single submitter Lynch syndrome 1
c.646-6_727del Single submitter hereditary neoplastic syndrome
c.646-?_792+?del Single submitter Lynch syndrome
c.792+2T>A Single submitter hereditary neoplastic syndrome
c.942_942+24del Single submitter hereditary neoplastic syndrome
c.942+2_942+3del Single submitter
c.942+3_942+4delinsGG Single submitter Lynch syndrome 1
c.942+3_942+4delinsGT Single submitter hereditary neoplastic syndrome
c.943-10_943-2del Single submitter hereditary neoplastic syndrome
c.943-15T>G Single submitter hereditary neoplastic syndrome
c.943-51_988del Single submitter Lynch syndrome 1
c.943-8_943del Single submitter Lynch syndrome 1
c.-68-1376_95del1539 Single submitter hereditary neoplastic syndrome
p.Ala600Asp Single submitter hereditary neoplastic syndrome
p.Arg396fs Single submitter Lynch syndrome 1
p.Arg55fs Single submitter hereditary neoplastic syndrome
p.Arg737Lys Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Asn361_Val367delinsLysSerSerThr Single submitter
p.Asp231fs Single submitter Lynch syndrome 1
p.Asp283fs Single submitter hereditary nonpolyposis colon cancer
p.Asp597fs Single submitter Muir-Torre syndrome
p.Asp748Tyr Single submitter hereditary neoplastic syndrome
p.Cys199Trp Single submitter hereditary neoplastic syndrome
p.Cys693del Single submitter hereditary neoplastic syndrome
p.Gln314His Single submitter hereditary neoplastic syndrome ⚠
p.Gln348_Pro349delinsHisSer Single submitter hereditary neoplastic syndrome
p.Gln510fs Single submitter hereditary nonpolyposis colon cancer
p.Gln681_Thr682delinsProIle Single submitter Lynch syndrome 1
p.Glu198Ala Single submitter hereditary neoplastic syndrome
p.Glu368_Leu380delinsVal Single submitter hereditary neoplastic syndrome
p.Glu56fs Single submitter hereditary neoplastic syndrome
p.Glu728Ter Single submitter Lynch syndrome 1
p.Glu749Gly Single submitter Lynch syndrome 1
p.Glu914fs Single submitter hereditary neoplastic syndrome
p.Gly108fs Single submitter
p.Gly149Arg Single submitter hereditary neoplastic syndrome
p.Gly220_Gly221delinsGluTer Single submitter Lynch syndrome 1
p.Gly338Asp Single submitter hereditary neoplastic syndrome
p.Gly669Val Single submitter hereditary neoplastic syndrome
p.Gly674del Single submitter hereditary neoplastic syndrome
p.Gly674Val Single submitter hereditary neoplastic syndrome
p.Gly880fs Single submitter Lynch syndrome 1
p.Ile411Arg Single submitter hereditary neoplastic syndrome
p.Ile454Lys Single submitter hereditary neoplastic syndrome
p.Ile691fs Single submitter Muir-Torre syndrome
p.Ile747del Single submitter hereditary neoplastic syndrome
p.Leu175fs Single submitter Lynch syndrome 1
p.Leu187His Single submitter hereditary neoplastic syndrome
p.Leu190Pro Single submitter hereditary neoplastic syndrome
p.Leu191Arg Single submitter hereditary neoplastic syndrome
p.Leu270Arg Single submitter Lynch syndrome 1
p.Leu329_Thr335delinsPheVal Single submitter hereditary neoplastic syndrome
p.Leu330Arg Single submitter Lynch syndrome 1
p.Leu407fs Single submitter Lynch syndrome
p.Leu414Pro Single submitter hereditary neoplastic syndrome
p.Lys235fs Single submitter hereditary nonpolyposis colon cancer
p.Lys546Ter Single submitter MSH2-related disorder
p.Lys65_Tyr66insTer Single submitter Lynch syndrome 1
p.Phe37fs Single submitter hereditary neoplastic syndrome
p.Phe58fs Single submitter hereditary neoplastic syndrome
p.Pro349His Single submitter hereditary neoplastic syndrome
p.Pro696Arg Single submitter Lynch syndrome 1
p.Pro696Gln Single submitter hereditary neoplastic syndrome
p.Ser144fs Single submitter hereditary nonpolyposis colon cancer
p.Ser554Ile Single submitter hereditary neoplastic syndrome ⚠
p.Ser676Leu Single submitter Lynch syndrome 1
p.Thr335Pro Single submitter hereditary neoplastic syndrome
p.Thr732Pro Single submitter Lynch syndrome 1
p.Thr754Pro Single submitter Lynch syndrome 1
p.Trp345Arg Single submitter hereditary neoplastic syndrome
p.Trp764fs Single submitter Lynch syndrome 1
p.Tyr757fs Single submitter
p.Val342_Asn343insTer Single submitter hereditary nonpolyposis colon cancer
c.2459-2_2472del No assertion criteria uterine corpus cancer
c.793-?_1276+?dup No assertion criteria
p.Glu768fs No assertion criteria Lynch syndrome 1
p.Glu852fs No assertion criteria Lynch syndrome 1
p.Ile648fs No assertion criteria Lynch syndrome 1

Conflicting classifications of pathogenicity 1330

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

c.1076+4T>C Single submitter hereditary neoplastic syndrome
c.1076+5397A>G Single submitter hereditary neoplastic syndrome
c.1076+5G>A Single submitter Hereditary nonpolyposis colorectal neoplasms
c.1077-13T>C Single submitter Hereditary nonpolyposis colorectal neoplasms
c.1077-17A>C Single submitter hereditary neoplastic syndrome
c.1077-18C>G Single submitter hereditary neoplastic syndrome
c.1077-3C>T Single submitter Hereditary nonpolyposis colorectal neoplasms
c.1077-7A>G Single submitter Hereditary nonpolyposis colorectal neoplasms
c.1276+11A>G Single submitter Hereditary nonpolyposis colorectal neoplasms
c.1276+23del Single submitter Hereditary nonpolyposis colorectal neoplasms
c.1276+4A>G Single submitter Hereditary nonpolyposis colorectal neoplasms
c.1276+5C>G Single submitter Hereditary nonpolyposis colorectal neoplasms
c.1276+7A>G Single submitter Hereditary nonpolyposis colorectal neoplasms
c.1276+9T>G Single submitter Lynch syndrome 1
c.1277-12A>G Single submitter Lynch syndrome 1
c.1277-5T>C Single submitter hereditary neoplastic syndrome
c.1277-6T>C Single submitter Lynch syndrome 1
c.1386+10A>C Single submitter Hereditary nonpolyposis colorectal neoplasms
c.1386+4T>A Single submitter Lynch syndrome 1
c.1386+5G>A Single submitter Hereditary nonpolyposis colorectal neoplasms
c.1386+6C>T Single submitter hereditary neoplastic syndrome
c.1387-10C>A Single submitter Hereditary nonpolyposis colorectal neoplasms
c.1387-1G>A Single submitter hereditary neoplastic syndrome ⚠
c.1387-2012C>T Single submitter Hereditary nonpolyposis colorectal neoplasms
c.1387-2A>G Single submitter hereditary neoplastic syndrome ⚠
c.1387-3C>T Single submitter hereditary neoplastic syndrome
c.1387-4G>C Single submitter Hereditary nonpolyposis colorectal neoplasms
c.1387-5T>C Single submitter hereditary neoplastic syndrome
c.1510+11G>C Single submitter hereditary neoplastic syndrome
c.1511-13_1511-9delinsGT Single submitter Lynch syndrome
c.1511-41G>C Single submitter Hereditary nonpolyposis colorectal neoplasms
c.1661+3T>G Single submitter hereditary neoplastic syndrome
c.1661+5G>T Single submitter Hereditary nonpolyposis colorectal neoplasms
c.1662-10C>T Single submitter Breast and/or ovarian cancer
c.1662-4G>A Single submitter Hereditary nonpolyposis colorectal neoplasms
c.1662-4G>C Single submitter hereditary neoplastic syndrome
c.1662-7T>C Single submitter hereditary neoplastic syndrome
c.1759+57G>T Single submitter Hereditary nonpolyposis colorectal neoplasms
c.1759+5A>T Single submitter Hereditary nonpolyposis colorectal neoplasms
c.1760-10T>A Single submitter Hereditary nonpolyposis colorectal neoplasms
c.1760-16T>G Single submitter hereditary neoplastic syndrome
c.1760-3C>G Single submitter hereditary neoplastic syndrome
c.1760-3C>T Single submitter Hereditary nonpolyposis colorectal neoplasms
c.1760-4A>G Single submitter hereditary neoplastic syndrome
c.1760-7del Single submitter Hereditary nonpolyposis colorectal neoplasms
c.2005+10C>T Single submitter Hereditary nonpolyposis colorectal neoplasms
c.2005+2dup Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
c.2006-1G>T Single submitter hereditary neoplastic syndrome ⚠
c.2006-4G>A Single submitter Hereditary nonpolyposis colorectal neoplasms
c.2006-8T>A Single submitter Hereditary nonpolyposis colorectal neoplasms
c.211+3G>A Single submitter Hereditary nonpolyposis colorectal neoplasms
c.211+3G>T Single submitter hereditary neoplastic syndrome
c.211+8_211+9delinsTG Single submitter Hereditary nonpolyposis colorectal neoplasms
c.211+9C>A Single submitter Hereditary nonpolyposis colorectal neoplasms
c.212_214del Single submitter Hereditary nonpolyposis colorectal neoplasms
c.212-3A>T Single submitter Hereditary nonpolyposis colorectal neoplasms
c.212-485_212-468del Single submitter hereditary neoplastic syndrome
c.212-9T>C Single submitter hereditary neoplastic syndrome
c.2210+11_2210+22del Single submitter Hereditary nonpolyposis colorectal neoplasms
c.2211-10T>C Single submitter Hereditary nonpolyposis colorectal neoplasms
c.2211-5T>G Single submitter Hereditary nonpolyposis colorectal neoplasms
c.2211-6C>A Single submitter Hereditary nonpolyposis colorectal neoplasms
c.2458+10A>G Single submitter Hereditary nonpolyposis colorectal neoplasms
c.2458+4T>C Single submitter Hereditary nonpolyposis colorectal neoplasms
c.2458+985A>G Single submitter Hereditary nonpolyposis colorectal neoplasms
c.2459-12A>C Single submitter Lynch syndrome 1
c.2459-14C>G Single submitter Hereditary nonpolyposis colorectal neoplasms
c.2459-3T>A Single submitter hereditary neoplastic syndrome
c.2459-5T>A Single submitter Hereditary nonpolyposis colorectal neoplasms
c.2459-5T>C Single submitter Hereditary nonpolyposis colorectal neoplasms
c.2634+4T>C Single submitter Hereditary nonpolyposis colorectal neoplasms
c.2634+5G>A Single submitter Hereditary nonpolyposis colorectal neoplasms
c.2634+7C>G Single submitter Lynch syndrome 1
c.2634+7C>T Single submitter Hereditary nonpolyposis colorectal neoplasms
c.2635-11A>G Single submitter Lynch syndrome 1
c.2635-12C>G Single submitter hereditary neoplastic syndrome
c.2635-4T>G Single submitter hereditary neoplastic syndrome
c.2635-6T>C Single submitter Hereditary nonpolyposis colorectal neoplasms
c.366+4A>C Single submitter Hereditary nonpolyposis colorectal neoplasms
c.367-1_370del Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
c.367-2A>G Single submitter hereditary neoplastic syndrome ⚠
c.367-3del Single submitter Hereditary nonpolyposis colorectal neoplasms
c.645+3A>G Single submitter Hereditary nonpolyposis colorectal neoplasms
c.645+6C>T Single submitter Hereditary nonpolyposis colorectal neoplasms
c.645+8A>G Single submitter Breast and/or ovarian cancer
c.645+9A>G Single submitter Lynch syndrome 1
c.646-11T>C Single submitter Hereditary nonpolyposis colorectal neoplasms
c.646-12C>G Single submitter hereditary neoplastic syndrome
c.646-13T>C Single submitter Hereditary nonpolyposis colorectal neoplasms
c.646-14_646-13del Single submitter Hereditary nonpolyposis colorectal neoplasms
c.646-18C>G Single submitter Hereditary nonpolyposis colorectal neoplasms
c.646-1G>T Single submitter ⚠
c.646-20A>G Single submitter Hereditary nonpolyposis colorectal neoplasms
c.646-3T>C Single submitter Hereditary nonpolyposis colorectal neoplasms
c.646-4A>G Single submitter Hereditary nonpolyposis colorectal neoplasms
c.646-5A>C Single submitter hereditary neoplastic syndrome
c.646-8del Single submitter Hereditary nonpolyposis colorectal neoplasms
c.792+4C>T Single submitter Hereditary nonpolyposis colorectal neoplasms
c.792+5A>G Single submitter Hereditary nonpolyposis colorectal neoplasms
c.793-10T>G Single submitter Hereditary nonpolyposis colorectal neoplasms
c.793-3T>C Single submitter hereditary neoplastic syndrome
c.942+2_942+4del Single submitter Lynch syndrome 1 ⚠
c.942+25_942+29del Single submitter Hereditary nonpolyposis colorectal neoplasms
c.942+29del Single submitter Hereditary nonpolyposis colorectal neoplasms
c.942+3A>C Single submitter Lynch syndrome 1
c.942+3A>G Single submitter Lynch syndrome 1
c.942+4A>T Single submitter hereditary neoplastic syndrome
c.942+5A>C Single submitter Hereditary nonpolyposis colorectal neoplasms
c.942+5A>T Single submitter MSH2-related disorder
c.942+6A>G Single submitter Hereditary nonpolyposis colorectal neoplasms
c.943-3T>C Single submitter Hereditary nonpolyposis colorectal neoplasms
c.943-5A>G Single submitter hereditary breast carcinoma
c.943-5A>T Single submitter Lynch syndrome 1
c.943-6T>C Single submitter Hereditary nonpolyposis colorectal neoplasms
c.943-6T>G Single submitter hereditary neoplastic syndrome
c.-102T>C Single submitter hereditary neoplastic syndrome
c.-107C>A Single submitter hereditary neoplastic syndrome
c.-10A>C Single submitter Hereditary nonpolyposis colorectal neoplasms
c.-10A>G Single submitter Lynch syndrome
c.-116G>T Single submitter hereditary neoplastic syndrome
c.-11G>A Single submitter Hereditary nonpolyposis colorectal neoplasms
c.-13A>T Single submitter Hereditary nonpolyposis colorectal neoplasms
c.-13AGG[1] Single submitter Lynch syndrome
c.-140G>T Single submitter hereditary neoplastic syndrome
c.-181G>A Single submitter Hereditary nonpolyposis colorectal neoplasms
c.-18A>G Single submitter Hereditary nonpolyposis colorectal neoplasms
c.-18A>T Single submitter Hereditary nonpolyposis colorectal neoplasms
c.-1C>T Single submitter Hereditary nonpolyposis colorectal neoplasms
c.-20G>C Single submitter hereditary neoplastic syndrome
c.-21A>T Single submitter Lynch syndrome 1
c.-29C>T Single submitter Hereditary nonpolyposis colorectal neoplasms
c.-2A>C Single submitter hereditary neoplastic syndrome
c.-3G>C Single submitter Hereditary nonpolyposis colorectal neoplasms
c.-43G>C Single submitter Lynch syndrome 1
c.-5T>G Single submitter Lynch syndrome
c.-68G>A Single submitter hereditary neoplastic syndrome
c.-73G>A Single submitter hereditary neoplastic syndrome
c.-78T>A Single submitter hereditary neoplastic syndrome
c.-78T>C Single submitter Hereditary nonpolyposis colorectal neoplasms
c.-81A>T Single submitter hereditary neoplastic syndrome
c.-81dup Single submitter Lynch syndrome 1
c.-82G>C Single submitter Lynch syndrome 1
c.-8G>A Single submitter Breast and/or ovarian cancer
c.-8G>T Single submitter Lynch syndrome 1
c.-9G>A Single submitter hereditary neoplastic syndrome
c.-9G>C Single submitter Muir-Torre syndrome
c.*10_*12del Single submitter hereditary neoplastic syndrome
c.*32G>C Single submitter Hereditary nonpolyposis colorectal neoplasms
c.*47G>A Single submitter Lynch syndrome 1
p.Ala107Gly Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala107Pro Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala111Gly Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala111Val Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala123Gly Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala143Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala14Glu Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala14Thr Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala154Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala154Val Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala15Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala189Gly Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala189Thr Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala207Thr Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala230Pro Single submitter hereditary neoplastic syndrome ⚠
p.Ala230Val Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala256Thr Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala266Val Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala272= Single submitter hereditary neoplastic syndrome
p.Ala2Val Single submitter Muir-Torre syndrome ⚠
p.Ala305Thr Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala309Val Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala327Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala327Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala328Pro Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala328Thr Single submitter Lynch syndrome ⚠
p.Ala328Val Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala365Gly Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala365Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala365Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala370Gly Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala370Thr Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala370Val Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala391Thr Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala391Val Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala398Val Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala399Thr Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala420Pro Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala420Ser Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala420Val Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala434Thr Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala434Val Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala499Val Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala500Pro Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala50Glu Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala50Gly Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala50Val Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala517Glu Single submitter hereditary neoplastic syndrome ⚠
p.Ala517Thr Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala517Val Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala53Ser Single submitter Lynch syndrome 1 ⚠
p.Ala53Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala54Ser Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala54Thr Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala54Val Single submitter Inherited ovarian cancer (without breast cancer) ⚠
p.Ala573Thr Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala600Gly Single submitter hereditary neoplastic syndrome ⚠
p.Ala600Ser Single submitter MSH2-related disorder ⚠
p.Ala604Thr Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala609Ser Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala615Pro Single submitter hereditary neoplastic syndrome ⚠
p.Ala615Thr Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala615Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala623Gly Single submitter hereditary neoplastic syndrome ⚠
p.Ala623Ser Single submitter hereditary neoplastic syndrome ⚠
p.Ala623Thr Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala623Val Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala636Val Single submitter Lynch syndrome ⚠
p.Ala649Thr Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala649Val Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala689Asp Single submitter Lynch syndrome 1 ⚠
p.Ala689Ser Single submitter Breast and/or ovarian cancer ⚠
p.Ala689Thr Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala70Thr Single submitter MSH2-related disorder ⚠
p.Ala70Val Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala710Gly Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala714Val Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala727Val Single submitter hereditary neoplastic syndrome
p.Ala72Ser Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala72Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala733Thr Single submitter MSH2-related disorder ⚠
p.Ala763Val Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala765Thr Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala765Val Single submitter Lynch syndrome ⚠
p.Ala776Thr Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala789Gly Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala789Ser Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala789Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala831Ser Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala831Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala848Ser Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala848Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala869Glu Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala869Gly Single submitter hereditary neoplastic syndrome ⚠
p.Ala869Val Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala870Lys Single submitter Hereditary nonpolyposis colorectal neoplasms
p.Ala870Val Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala913Gly Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala917Gly Single submitter hereditary neoplastic syndrome ⚠
p.Ala917Thr Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Arg106Thr Single submitter Hereditary nonpolyposis colorectal neoplasms
p.Arg171Lys Single submitter hereditary neoplastic syndrome ⚠
p.Arg214Gly Single submitter hereditary neoplastic syndrome ⚠
p.Arg214Ile Single submitter Lynch syndrome ⚠
p.Arg21Cys Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Arg21His Single submitter hereditary neoplastic syndrome ⚠
p.Arg21Leu Single submitter Breast and/or ovarian cancer
p.Arg227Gly Single submitter hereditary neoplastic syndrome ⚠
p.Arg243Gln Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Arg243Trp Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Arg308Thr Single submitter hereditary neoplastic syndrome ⚠
p.Arg35Gly Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Arg382Cys Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Arg382Gly Single submitter hereditary neoplastic syndrome ⚠
p.Arg382His Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Arg383Gln Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Arg383Pro Single submitter Lynch syndrome ⚠
p.Arg389Gln Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Arg39= Single submitter Hereditary nonpolyposis colorectal neoplasms
p.Arg396Gly Single submitter hereditary neoplastic syndrome ⚠
p.Arg39Gln Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Arg39Leu Single submitter hereditary neoplastic syndrome ⚠
p.Arg39Pro Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Arg406Gln Single submitter Breast and/or ovarian cancer ⚠
p.Arg406Leu Single submitter Lynch syndrome ⚠
p.Arg444Cys Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Arg444His Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Arg444Leu Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Arg482Gly Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Arg482Ser Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Arg501Lys Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Arg524Cys Single submitter hereditary neoplastic syndrome ⚠
p.Arg524Gly Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Arg524His Single submitter mismatch repair cancer syndrome 2 ⚠
p.Arg534Cys Single submitter Muir-Torre syndrome ⚠
p.Arg534His Single submitter Lynch syndrome 1 ⚠
p.Arg534Leu Single submitter Muir-Torre syndrome ⚠
p.Arg55Gly Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Arg621Gln Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Arg631Lys Single submitter Lynch syndrome 1 ⚠
p.Arg631Ser Single submitter hereditary neoplastic syndrome ⚠
p.Arg638Ser Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Arg680Gly Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Arg711Gln Single submitter hereditary neoplastic syndrome ⚠
p.Arg711Leu Single submitter Lynch syndrome 1 ⚠
p.Arg737Gly Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Arg752= Single submitter hereditary neoplastic syndrome
p.Arg752Lys Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Arg877fs Single submitter Lynch syndrome 1 ⚠
p.Arg877Lys Single submitter hereditary neoplastic syndrome ⚠
p.Arg929Gln Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠

Benign 185

c.1076+3400C>T Expert panel Lynch syndrome
c.1077-10T>C Expert panel Lynch syndrome
c.1077-2037G>T Expert panel Lynch syndrome
c.1077-80G>A Expert panel Lynch syndrome
c.1276+51C>A Expert panel Lynch syndrome
c.1276+6765G>A Expert panel Lynch syndrome
c.1277-118G>A Expert panel Lynch syndrome
c.1277-212T>A Expert panel Lynch syndrome
c.1277-5849T>C Expert panel Lynch syndrome
c.1277-6990T>G Expert panel Lynch syndrome
c.1277-945A>C Expert panel Lynch syndrome
c.1387-250G>A Expert panel Lynch syndrome
c.1387-8G>T Expert panel Lynch syndrome 1
c.1511-1516C>T Expert panel Lynch syndrome
c.1511-91G>T Expert panel Lynch syndrome
c.1511-9A>T Expert panel Lynch syndrome
c.1661+12G>A Expert panel Lynch syndrome
c.1661+90T>C Expert panel Lynch syndrome
c.1662-9G>A Expert panel Lynch syndrome
c.1759+501A>G Expert panel Lynch syndrome
c.1760-62G>A Expert panel Lynch syndrome
c.2006-265A>G Expert panel Lynch syndrome
c.2006-6T>C Expert panel Lynch syndrome
c.211+98T>C Expert panel Lynch syndrome
c.211+9C>G Expert panel Lynch syndrome
c.2210+274T>G Expert panel Lynch syndrome
c.2210+317G>C Expert panel Lynch syndrome
c.2635-214T>C Expert panel Lynch syndrome
c.-118T>C Expert panel Lynch syndrome
c.-433T>G Expert panel Lynch syndrome
c.*129T>C Expert panel Lynch syndrome
c.*2692A>C Expert panel Lynch syndrome
p.Ala272Val Expert panel Lynch syndrome
p.Arg106Lys Expert panel Lynch syndrome
p.Asn127Ser Expert panel Lynch syndrome ⚠
p.Asp167His Expert panel Lynch syndrome 1
p.Gln629Arg Expert panel Lynch syndrome
p.Glu198Gly Expert panel Lynch syndrome
p.Gly322Asp Expert panel Lynch syndrome
p.Leu191= Expert panel Lynch syndrome
p.Leu390Phe Expert panel Lynch syndrome
p.Leu556= Expert panel Lynch syndrome
p.Leu94del Expert panel Lynch syndrome
p.Lys113= Expert panel Lynch syndrome
p.Phe922= Expert panel Lynch syndrome 1
p.Thr564Ala Expert panel Lynch syndrome
p.Thr8Met Expert panel Lynch syndrome
c.1277-326G>T Multiple submitters
c.1510+111T>C Multiple submitters
c.1510+115A>G Multiple submitters
c.1510+118T>C Multiple submitters
c.1759+107A>G Multiple submitters
c.1759+183G>A Multiple submitters
c.2005+51T>G Multiple submitters
c.2006-127C>T Multiple submitters
c.2635-111T>A Multiple submitters
c.367-168C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.367-306A>G Multiple submitters
c.367-86A>C Multiple submitters
c.792+172T>G Multiple submitters
c.793-23G>A Multiple submitters hereditary neoplastic syndrome
c.943-161C>T Multiple submitters
c.1076+190del Single submitter
c.1077-374C>G Single submitter
c.1077-3816T>C Single submitter Hereditary nonpolyposis colorectal neoplasms
c.1276+132del Single submitter
c.1277-3073AT[7] Single submitter
c.1277-3182_1277-3139dup Single submitter
c.1277-3221_1277-3214del Single submitter
c.1277-3257TA[4] Single submitter
c.1277-3296TA[4] Single submitter
c.1277-3367_1277-3349del Single submitter
c.1277-3396AT[3] Single submitter
c.1386+2858T>A Single submitter
c.1511-17dup Single submitter Lynch syndrome 1
c.1511-266A>T Single submitter
c.1661+305C>G Single submitter
c.1662-20dup Single submitter Lynch syndrome 1
c.1760-126A>T Single submitter
c.2005+18del Single submitter Hereditary nonpolyposis colorectal neoplasms
c.2005+50_2005+51insG Single submitter
c.2005+59_2005+61dup Single submitter Lynch syndrome 1
c.2005+60_2005+61del Single submitter
c.2005+61del Single submitter
c.2006-216G>A Single submitter
c.2006-26dup Single submitter Lynch syndrome 1
c.211+171G>A Single submitter
c.211+9_211+11delinsGGA Single submitter Lynch syndrome 1
c.2210+175G>A Single submitter
c.2210+285T>G Single submitter
c.2211-284dup Single submitter
c.2458+314G>C Single submitter
c.2635-112dup Single submitter
c.366+233C>G Single submitter
c.646-138A>G Single submitter
c.646-172T>C Single submitter
c.646-224A>G Single submitter
c.646-46del Single submitter
c.793-30_793-20del Single submitter Lynch syndrome 1
c.942+10_942+29dup Single submitter
c.942+11_942+29dup Single submitter
c.942+12_942+29del Single submitter
c.942+12_942+29dup Single submitter
c.942+13_942+29dup Single submitter
c.942+14_942+29dup Single submitter
c.942+15_942+29dup Single submitter
c.942+16_942+29dup Single submitter
c.942+17_942+29dup Single submitter Lynch syndrome 1
c.942+18_942+29dup Single submitter
c.942+19_942+29dup Single submitter
c.942+20_942+29dup Single submitter
c.942+21_942+29dup Single submitter
c.942+22_942+29dup Single submitter Lynch syndrome 1
c.942+23_942+29dup Single submitter Lynch syndrome 1
c.942+24_942+29dup Single submitter
c.942+25_942+29dup Single submitter
c.942+26_942+29dup Single submitter
c.942+304C>A Single submitter
c.942+7_942+29dup Single submitter Lynch syndrome 1
c.942+7A>G Single submitter Hereditary nonpolyposis colorectal neoplasms
c.942+8_942+29dup Single submitter
c.942+9_942+29dup Single submitter
c.943-160G>A Single submitter
c.943-244C>G Single submitter
c.-21A>G Single submitter Hereditary nonpolyposis colorectal neoplasms
c.*10G>A Single submitter Lynch syndrome 1
c.*2A>G Single submitter Lynch syndrome 1
c.*4A>T Single submitter Lynch syndrome 1
c.*6C>T Single submitter Lynch syndrome 1
c.*8del Single submitter Lynch syndrome 1
p.Ala256Gly Single submitter Hereditary nonpolyposis colorectal neoplasms
p.Ala573= Single submitter Lynch syndrome 1
p.Ala636Thr Single submitter hereditary neoplastic syndrome
p.Ala727= Single submitter Lynch syndrome 1
p.Ala791= Single submitter Lynch syndrome 1
p.Ala834= Single submitter Lynch syndrome 1
p.Ala917Val Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Arg359= Single submitter Lynch syndrome 1
p.Arg382= Single submitter Lynch syndrome 1
p.Arg631Ile Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
p.Asn331= Single submitter Lynch syndrome 1
p.Asn903Asp Single submitter hereditary neoplastic syndrome
p.Cys176= Single submitter Lynch syndrome 1
p.Gln130= Single submitter Lynch syndrome 1
p.Gln76= Single submitter Lynch syndrome 1
p.Glu114= Single submitter Lynch syndrome 1
p.Glu571Lys Single submitter ovarian cancer ⚠
p.Glu859= Single submitter Lynch syndrome 1
p.Gly137= Single submitter Lynch syndrome 1
p.Gly426= Single submitter Lynch syndrome 1
p.Gly692= Single submitter Lynch syndrome 1
p.Gly721= Single submitter Lynch syndrome 1
p.His46Gln Single submitter Lynch syndrome 1
p.Ile216= Single submitter Lynch syndrome 1
p.Ile217Val Single submitter Hereditary nonpolyposis colorectal neoplasms
p.Ile624= Single submitter Lynch syndrome 1
p.Ile667= Single submitter Lynch syndrome 1
p.Ile904= Single submitter Lynch syndrome 1
p.Leu190= Single submitter Lynch syndrome 1
p.Leu469= Single submitter Lynch syndrome 1
p.Leu488= Single submitter Lynch syndrome 1
p.Leu888= Single submitter Lynch syndrome 1
p.Lys29= Single submitter Lynch syndrome 1
p.Lys550= Single submitter Lynch syndrome 1
p.Lys882= Single submitter Lynch syndrome 1
p.Lys931= Single submitter Lynch syndrome 1
p.Met253Leu Single submitter hereditary neoplastic syndrome
p.Phe294= Single submitter Lynch syndrome 1
p.Phe450= Single submitter Lynch syndrome 1
p.Pro439= Single submitter Lynch syndrome 1
p.Pro507= Single submitter Lynch syndrome 1
p.Pro868= Single submitter Lynch syndrome 1
p.Ser233= Single submitter Lynch syndrome 1
p.Ser494= Single submitter Lynch syndrome 1
p.Ser723= Single submitter Lynch syndrome 1
p.Ser734= Single submitter Lynch syndrome 1
p.Thr293= Single submitter Lynch syndrome 1
p.Thr375Ser Single submitter hereditary neoplastic syndrome
p.Thr788= Single submitter Lynch syndrome 1
p.Thr810= Single submitter Lynch syndrome 1
p.Tyr656Asn Single submitter hereditary neoplastic syndrome
p.Val102= Single submitter Lynch syndrome 1
p.Val34= Single submitter Lynch syndrome 1
p.Val342= Single submitter Lynch syndrome 1
p.Val797= Single submitter Lynch syndrome 1

Benign/Likely benign 448

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

c.1076+171del Multiple submitters hereditary neoplastic syndrome
c.1077-15G>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1077-225G>A Multiple submitters
c.1077-229C>T Multiple submitters hereditary neoplastic syndrome
c.1276+16G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1276+23dup Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1277-16T>C Multiple submitters Inherited ovarian cancer (without breast cancer)
c.1277-20_1277-17del Multiple submitters Lynch syndrome 1
c.1277-8T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1386+18del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1386+23T>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1387-14_1387-11del Multiple submitters Lynch syndrome
c.1387-19C>G Multiple submitters Lynch syndrome 1
c.1661+17T>G Multiple submitters hereditary neoplastic syndrome
c.1662-23A>G Multiple submitters Lynch syndrome 1
c.1759+9A>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1760-13del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1760-7T>C Multiple submitters hereditary neoplastic syndrome
c.2005+42G>T Multiple submitters
c.2005+8del Multiple submitters Lynch syndrome 1
c.211+8C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.212-4del Multiple submitters hereditary neoplastic syndrome
c.212-4dup Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.212-6_212-4del Multiple submitters hereditary neoplastic syndrome
c.2210+7G>T Multiple submitters cancer or benign tumor
c.2211-15A>T Multiple submitters Breast and/or ovarian cancer
c.2211-19A>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.2458+8C>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.367-17del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.367-19A>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.646-16A>T Multiple submitters hereditary neoplastic syndrome
c.942+14_942+29del Multiple submitters hereditary neoplastic syndrome
c.942+16_942+29del Multiple submitters Lynch syndrome
c.942+17_942+29del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.942+19_942+29del Multiple submitters hereditary neoplastic syndrome
c.942+20_942+29del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.942+21_942+29del Multiple submitters hereditary neoplastic syndrome
c.942+22_942+29del Multiple submitters hereditary neoplastic syndrome
c.942+23_942+29del Multiple submitters hereditary neoplastic syndrome
c.942+24_942+29del Multiple submitters hereditary neoplastic syndrome
c.942+26_942+29del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.942+27_942+29del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.942+27_942+29dup Multiple submitters Lynch syndrome
c.942+28_942+29del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.942+28_942+29dup Multiple submitters Lynch syndrome
c.942+29dup Multiple submitters
c.942+5A>G Multiple submitters Lynch syndrome 1
c.-179C>T Multiple submitters hereditary neoplastic syndrome
c.-185C>A Multiple submitters hereditary neoplastic syndrome
c.-225G>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.-22C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.-23C>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.*6C>G Multiple submitters Lynch syndrome 1
p.Ala120= Multiple submitters hereditary neoplastic syndrome
p.Ala123= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Ala14= Multiple submitters Lynch syndrome 1
p.Ala143= Multiple submitters hereditary neoplastic syndrome
p.Ala154= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Ala2= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Ala230= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Ala256= Multiple submitters hereditary neoplastic syndrome
p.Ala266= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Ala305= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Ala306= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Ala309= Multiple submitters hereditary neoplastic syndrome
p.Ala365= Multiple submitters hereditary neoplastic syndrome
p.Ala391= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Ala398= Multiple submitters hereditary neoplastic syndrome
p.Ala434= Multiple submitters hereditary neoplastic syndrome
p.Ala45= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Ala45Val Multiple submitters hereditary neoplastic syndrome
p.Ala499= Multiple submitters hereditary neoplastic syndrome
p.Ala50= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Ala53= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Ala54= Multiple submitters Lynch syndrome 1
p.Ala604= Multiple submitters Lynch syndrome 1
p.Ala609= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Ala615= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Ala640= Multiple submitters hereditary neoplastic syndrome
p.Ala640Ser Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Ala649= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Ala689= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Ala700= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Ala710= Multiple submitters hereditary neoplastic syndrome
p.Ala714= Multiple submitters hereditary neoplastic syndrome
p.Ala72= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Ala733= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Ala739= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Ala763= Multiple submitters hereditary neoplastic syndrome
p.Ala765= Multiple submitters hereditary neoplastic syndrome
p.Ala771= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Ala781= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Ala804= Multiple submitters Lynch syndrome 1
p.Ala913= Multiple submitters hereditary neoplastic syndrome
p.Arg106= Multiple submitters Lynch syndrome 1
p.Arg21= Multiple submitters hereditary neoplastic syndrome
p.Arg214= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Arg219= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Arg373= Multiple submitters Lynch syndrome 1
p.Arg383= Multiple submitters Lynch syndrome 1
p.Arg389= Multiple submitters hereditary neoplastic syndrome
p.Arg482= Multiple submitters Lynch syndrome 1
p.Arg534= Multiple submitters hereditary neoplastic syndrome
p.Arg638= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Arg877= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Asn105= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Asn115= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Asn115Lys Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Asn181= Multiple submitters Lynch syndrome 1
p.Asn242= Multiple submitters hereditary neoplastic syndrome
p.Asn254= Multiple submitters Lynch syndrome
p.Asn361= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Asn388= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Asn412= Multiple submitters hereditary neoplastic syndrome
p.Asn416= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Asn465= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Asn477= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Asn535= Multiple submitters hereditary neoplastic syndrome
p.Asn538= Multiple submitters Lynch syndrome 1
p.Asn583= Multiple submitters Lynch syndrome 1
p.Asn613= Multiple submitters hereditary neoplastic syndrome
p.Asn671= Multiple submitters Lynch syndrome 1
p.Asn799= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Asn919= Multiple submitters hereditary neoplastic syndrome
p.Asp116= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Asp133= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Asp180= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Asp231= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Asp236= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Asp240= Multiple submitters hereditary neoplastic syndrome
p.Asp283= Multiple submitters hereditary neoplastic syndrome
p.Asp283Val Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Asp295= Multiple submitters Lynch syndrome 1
p.Asp369= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Asp379= Multiple submitters hereditary neoplastic syndrome
p.Asp38= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Asp386= Multiple submitters Lynch syndrome 1
p.Asp403= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Asp41= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Asp461= Multiple submitters hereditary neoplastic syndrome
p.Asp487= Multiple submitters Lynch syndrome 1
p.Asp646= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Asp654= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Asp706= Multiple submitters hereditary neoplastic syndrome
p.Asp716= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Asp742= Multiple submitters hereditary neoplastic syndrome
p.Cys199= Multiple submitters Lynch syndrome 1
p.Cys404= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Cys527= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Cys641= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Cys707= Multiple submitters Lynch syndrome
p.Cys778= Multiple submitters hereditary neoplastic syndrome
p.Cys873= Multiple submitters hereditary neoplastic syndrome
p.Gln10= Multiple submitters Lynch syndrome 1
p.Gln183= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Gln193= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Gln218= Multiple submitters hereditary neoplastic syndrome
p.Gln288= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Gln298= Multiple submitters hereditary neoplastic syndrome
p.Gln337= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Gln339= Multiple submitters Lynch syndrome 1
p.Gln344= Multiple submitters Lynch syndrome 1
p.Gln377= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Gln395= Multiple submitters hereditary neoplastic syndrome
p.Gln397= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Gln4= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Gln402= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Gln413= Multiple submitters Lynch syndrome 1
p.Gln419Glu Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Gln510= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Gln593= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Gln629= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Gln645= Multiple submitters hereditary neoplastic syndrome
p.Gln662= Multiple submitters hereditary neoplastic syndrome
p.Gln824= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Gln855= Multiple submitters hereditary neoplastic syndrome
p.Gln855His Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Gln885= Multiple submitters hereditary neoplastic syndrome
p.Gln97= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Glu101= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Glu16= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Glu177= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Glu198= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Glu278= Multiple submitters hereditary neoplastic syndrome
p.Glu28= Multiple submitters hereditary neoplastic syndrome
p.Glu290= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Glu358= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Glu364= Multiple submitters Lynch syndrome 1
p.Glu371= Multiple submitters hereditary neoplastic syndrome
p.Glu452= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Glu467= Multiple submitters mismatch repair cancer syndrome 2
p.Glu48= Multiple submitters Lynch syndrome 1
p.Glu529= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Glu562= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Glu571= Multiple submitters Lynch syndrome 1
p.Glu580= Multiple submitters hereditary neoplastic syndrome
p.Glu590= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Glu647= Multiple submitters hereditary neoplastic syndrome
p.Glu698= Multiple submitters hereditary neoplastic syndrome
p.Glu7= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Glu701= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Glu749= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Glu808= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Glu842= Multiple submitters hereditary neoplastic syndrome
p.Glu852= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Glu853= Multiple submitters Lynch syndrome 1
p.Glu867= Multiple submitters Lynch syndrome 1
p.Glu925= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Gly126= Multiple submitters hereditary neoplastic syndrome
p.Gly146= Multiple submitters hereditary neoplastic syndrome
p.Gly149= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Gly162= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Gly203= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Gly208= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Gly220= Multiple submitters hereditary neoplastic syndrome
p.Gly221= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Gly287= Multiple submitters Lynch syndrome 1
p.Gly338= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Gly410= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Gly504= Multiple submitters hereditary neoplastic syndrome
p.Gly508= Multiple submitters hereditary neoplastic syndrome
p.Gly587= Multiple submitters Lynch syndrome 1
p.Gly62= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Gly669= Multiple submitters hereditary neoplastic syndrome
p.Gly673= Multiple submitters hereditary neoplastic syndrome
p.Gly674= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Gly68= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Gly858= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.His424= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.His46= Multiple submitters Lynch syndrome
p.His610= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.His665= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.His785= Multiple submitters hereditary neoplastic syndrome
p.His839= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Ile145= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Ile224= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Ile304= Multiple submitters hereditary neoplastic syndrome
p.Ile356= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Ile454= Multiple submitters hereditary neoplastic syndrome
p.Ile544= Multiple submitters hereditary neoplastic syndrome
p.Ile648Val Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Ile704= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Ile708= Multiple submitters hereditary neoplastic syndrome
p.Ile735= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Ile747= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Ile770= Multiple submitters Lynch syndrome 1
p.Ile828= Multiple submitters hereditary neoplastic syndrome
p.Ile865= Multiple submitters hereditary neoplastic syndrome
p.Ile926= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Ile930= Multiple submitters Lynch syndrome
p.Leu11= Multiple submitters hereditary neoplastic syndrome
p.Leu128= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Leu135= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Leu175= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Leu187= Multiple submitters hereditary neoplastic syndrome
p.Leu241= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Leu245= Multiple submitters hereditary neoplastic syndrome
p.Leu277= Multiple submitters Lynch syndrome 1
p.Leu279= Multiple submitters Lynch syndrome 1
p.Leu310= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Leu329= Multiple submitters hereditary neoplastic syndrome
p.Leu330= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Leu350= Multiple submitters Lynch syndrome 1
p.Leu36= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Leu376= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Leu390= Multiple submitters hereditary neoplastic syndrome
p.Leu407= Multiple submitters Lynch syndrome 1
p.Leu414= Multiple submitters hereditary neoplastic syndrome
p.Leu421= Multiple submitters hereditary neoplastic syndrome
p.Leu431= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Leu433= Multiple submitters Lynch syndrome 1
p.Leu440= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Leu443= Multiple submitters hereditary neoplastic syndrome
p.Leu458= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Leu478= Multiple submitters hereditary neoplastic syndrome
p.Leu505= Multiple submitters hereditary neoplastic syndrome
p.Leu51= Multiple submitters Lynch syndrome 1
p.Leu52= Multiple submitters Lynch syndrome 1
p.Leu595= Multiple submitters hereditary neoplastic syndrome
p.Leu602= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Leu634= Multiple submitters hereditary neoplastic syndrome
p.Leu687= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Leu709= Multiple submitters Lynch syndrome 1
p.Leu730= Multiple submitters hereditary neoplastic syndrome
p.Leu744= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Leu750= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Leu800= Multiple submitters hereditary neoplastic syndrome
p.Leu805= Multiple submitters Lynch syndrome 1
p.Leu849= Multiple submitters Lynch syndrome 1
p.Leu875= Multiple submitters Lynch syndrome
p.Leu9= Multiple submitters Lynch syndrome 1
p.Leu92= Multiple submitters Lynch syndrome 1
p.Leu94= Multiple submitters hereditary neoplastic syndrome
p.Lys104= Multiple submitters hereditary neoplastic syndrome
p.Lys172= Multiple submitters hereditary neoplastic syndrome
p.Lys197= Multiple submitters Lynch syndrome 1
p.Lys212= Multiple submitters hereditary neoplastic syndrome
p.Lys229= Multiple submitters Lynch syndrome 1
p.Lys332= Multiple submitters Lynch syndrome 1
p.Lys334= Multiple submitters Hereditary nonpolyposis colorectal neoplasms

Likely benign 1260

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

c.1276+47T>A Expert panel Lynch syndrome
c.1661+6C>T Expert panel Lynch syndrome
c.1760-110_1760-108dup Expert panel Lynch syndrome
c.2005+8dup Expert panel Lynch syndrome
c.*221G>T Expert panel Lynch syndrome
c.*226A>G Expert panel Lynch syndrome
p.Ala2Thr Expert panel Lynch syndrome 1 ⚠
p.Ala834Thr Expert panel Lynch syndrome
p.Arg55Gln Expert panel Lynch syndrome
p.Arg96His Expert panel Lynch syndrome ⚠
p.Asn560= Expert panel Lynch syndrome
p.Gln324= Expert panel Lynch syndrome
p.Gln419Lys Expert panel Lynch syndrome
p.Gln718= Expert panel Lynch syndrome
p.Gln861= Expert panel Lynch syndrome
p.Gly315Val Expert panel Lynch syndrome ⚠
p.Gly71= Expert panel Lynch syndrome 1
p.Ile169Val Expert panel Lynch syndrome
p.Ile577Thr Expert panel Lynch syndrome
p.Leu496= Expert panel Lynch syndrome
p.Lys579= Expert panel Lynch syndrome
p.Met894Arg Expert panel Lynch syndrome
p.Ser448= Expert panel Lynch syndrome 1
p.Ser860Leu Expert panel Lynch syndrome
p.Thr905Arg Expert panel Lynch syndrome 1
p.Val102Ile Expert panel Lynch syndrome ⚠
c.1076+10T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1076+11A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1076+12G>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1076+16A>C Multiple submitters hereditary neoplastic syndrome
c.1076+20T>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1076+8A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1076+9_1076+11del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1076+9T>A Multiple submitters Lynch syndrome 1
c.1076+9T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1077-11A>G Multiple submitters Lynch syndrome
c.1077-15G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1077-18C>A Multiple submitters hereditary neoplastic syndrome
c.1077-18C>T Multiple submitters Lynch syndrome 1
c.1077-19T>G Multiple submitters hereditary neoplastic syndrome
c.1276+10G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1276+16G>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1276+20_1276+23del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1276+9T>A Multiple submitters Lynch syndrome 1
c.1277-11_1277-9del Multiple submitters Lynch syndrome
c.1277-11C>T Multiple submitters hereditary neoplastic syndrome
c.1277-12A>C Multiple submitters hereditary neoplastic syndrome
c.1277-14C>T Multiple submitters Lynch syndrome 1
c.1277-15A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1277-4T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1277-7_1277-4del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1277-7C>A Multiple submitters hereditary neoplastic syndrome
c.1277-7C>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1386+104C>T Multiple submitters
c.1386+10A>G Multiple submitters Lynch syndrome 1
c.1386+10A>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1386+12A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1386+18T>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1386+18T>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1386+19A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1386+7A>G Multiple submitters Lynch syndrome 1
c.1386+8A>G Multiple submitters Lynch syndrome 1
c.1387-10C>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1387-13G>A Multiple submitters hereditary neoplastic syndrome
c.1387-15T>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1387-16T>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1387-17C>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1387-17C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1387-18A>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1387-19C>T Multiple submitters Lynch syndrome 1
c.1387-20T>C Multiple submitters hereditary neoplastic syndrome
c.1387-7T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1387-8G>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1387-9T>C Multiple submitters hereditary neoplastic syndrome
c.1510+10G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1510+11G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1510+19A>G Multiple submitters hereditary neoplastic syndrome
c.1510+7A>G Multiple submitters Lynch syndrome 1
c.1510+9G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1511-10_1511-7del Multiple submitters Lynch syndrome 1
c.1511-10G>A Multiple submitters Lynch syndrome 1
c.1511-10G>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1511-10G>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1511-12T>C Multiple submitters hereditary neoplastic syndrome
c.1511-13_1511-11del Multiple submitters hereditary neoplastic syndrome
c.1511-16C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1511-18_1511-14del Multiple submitters Lynch syndrome 1
c.1511-18T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1511-4C>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1511-6A>G Multiple submitters Lynch syndrome 1
c.1511-6A>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1511-9A>G Multiple submitters hereditary neoplastic syndrome
c.1661+11C>T Multiple submitters Lynch syndrome 1
c.1661+18A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1661+19T>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1661+19T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1661+6dup Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1661+7A>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1661+9G>T Multiple submitters Lynch syndrome 1
c.1662-13T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1662-14A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1662-15T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1662-17_1662-16del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1662-17G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1662-17G>C Multiple submitters Lynch syndrome 1
c.1662-17G>T Multiple submitters hereditary neoplastic syndrome
c.1662-18_1662-17delinsAT Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1662-18T>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1662-4del Multiple submitters Lynch syndrome 1
c.1662-9G>C Multiple submitters Lynch syndrome 1
c.1662-9G>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1759+10A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1759+20T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1759+7T>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1760-10_1760-5del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1760-10T>C Multiple submitters Lynch syndrome 1
c.1760-12A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1760-17T>C Multiple submitters hereditary neoplastic syndrome
c.1760-19del Multiple submitters Lynch syndrome 1
c.1760-20_1760-19del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1760-20C>T Multiple submitters Lynch syndrome 1
c.2005+12G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.2005+12G>C Multiple submitters hereditary neoplastic syndrome
c.2005+13G>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.2005+18T>G Multiple submitters hereditary neoplastic syndrome
c.2005+20G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.2005+7A>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.2005+8A>G Multiple submitters Lynch syndrome 1
c.2005+9C>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.2005+9C>G Multiple submitters Lynch syndrome 1
c.2005+9C>T Multiple submitters Lynch syndrome 1
c.2006-14_2006-12del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.2006-14A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.2006-15T>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.2006-15T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.2006-16A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.2006-17T>C Multiple submitters Lynch syndrome 1
c.2006-36_2006-33dup Multiple submitters
c.2006-4G>C Multiple submitters Lynch syndrome 1
c.2006-5T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.2006-9G>C Multiple submitters Lynch syndrome 1
c.2006-9G>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.211+10G>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.211+14C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.211+14dup Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.211+15G>T Multiple submitters hereditary neoplastic syndrome
c.211+19C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.211+7G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.211+8C>A Multiple submitters Lynch syndrome 1
c.211+9C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.212-4T>A Multiple submitters hereditary neoplastic syndrome
c.212-5_212-4del Multiple submitters hereditary neoplastic syndrome
c.212-6T>C Multiple submitters hereditary neoplastic syndrome
c.212-8T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.2210+13C>G Multiple submitters hereditary neoplastic syndrome
c.2210+16A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.2210+19C>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.2210+19C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.2210+20C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.2210+7G>A Multiple submitters Lynch syndrome 1
c.2210+8C>T Multiple submitters Lynch syndrome 1
c.2210+9A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.2211-11A>C Multiple submitters Lynch syndrome 1
c.2211-11A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.2211-12T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.2211-14A>C Multiple submitters Lynch syndrome 1
c.2211-17G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.2211-17G>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.2211-18T>C Multiple submitters Lynch syndrome 1
c.2211-19A>G Multiple submitters Lynch syndrome 1
c.2211-20C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.2211-6C>T Multiple submitters Lynch syndrome 1
c.2211-7G>A Multiple submitters hereditary neoplastic syndrome
c.2211-9G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.2458+10A>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.2458+16G>A Multiple submitters hereditary neoplastic syndrome
c.2458+17T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.2458+19C>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.2458+8C>T Multiple submitters Lynch syndrome 1
c.2458+9dup Multiple submitters Lynch syndrome 1
c.2458+9T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.2459-13A>G Multiple submitters hereditary neoplastic syndrome
c.2459-16C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.2459-17C>T Multiple submitters Lynch syndrome 1
c.2459-18del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.2459-18T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.2459-19T>C Multiple submitters hereditary neoplastic syndrome
c.2459-20C>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.2459-20C>T Multiple submitters Lynch syndrome 1
c.2459-3T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.2459-4A>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.2459-4A>G Multiple submitters hereditary neoplastic syndrome
c.2459-4dup Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.2459-9T>C Multiple submitters Lynch syndrome 1
c.2634+12T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.2634+13G>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.2634+18C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.2634+19A>G Multiple submitters hereditary neoplastic syndrome
c.2634+20T>C Multiple submitters hereditary neoplastic syndrome
c.2634+8_2634+9delinsCA Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.2634+8A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.2634+8A>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.2634+8del Multiple submitters Lynch syndrome 1
c.2634+9_2634+10del Multiple submitters hereditary neoplastic syndrome
c.2635-11A>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.2635-12C>T Multiple submitters hereditary breast carcinoma
c.2635-13A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.2635-15del Multiple submitters hereditary neoplastic syndrome
c.2635-18C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.2635-19A>G Multiple submitters Lynch syndrome 1
c.2635-20G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.2635-9G>A Multiple submitters Lynch syndrome 1
c.366+18T>C Multiple submitters hereditary neoplastic syndrome
c.366+3A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.366+4_366+7dup Multiple submitters Lynch syndrome 1
c.366+8T>C Multiple submitters Lynch syndrome 1
c.366+9C>A Multiple submitters Lynch syndrome 1
c.366+9C>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.366+9C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.367-12A>G Multiple submitters Lynch syndrome 1
c.367-18A>T Multiple submitters hereditary neoplastic syndrome
c.367-20A>T Multiple submitters Lynch syndrome 1
c.367-4T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.367-4T>G Multiple submitters hereditary neoplastic syndrome
c.367-5C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.367-6A>G Multiple submitters Lynch syndrome 1
c.645+17T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.645+19G>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.645+20T>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.645+8A>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.646-12C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.646-15T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.646-16A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.646-4dup Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.646-5A>T Multiple submitters hereditary neoplastic syndrome
c.646-8C>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.792+14A>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.792+19T>C Multiple submitters hereditary neoplastic syndrome
c.792+282T>C Multiple submitters
c.793-14A>T Multiple submitters Lynch syndrome 1
c.793-8A>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.942+18_942+29del Multiple submitters hereditary neoplastic syndrome
c.943-12T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.943-15T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.943-16A>G Multiple submitters Lynch syndrome 1
c.943-4C>A Multiple submitters hereditary neoplastic syndrome
c.943-4C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.943-8T>C Multiple submitters Lynch syndrome 1
c.943-9G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.-148C>T Multiple submitters hereditary neoplastic syndrome
c.-161C>T Multiple submitters hereditary neoplastic syndrome
c.*141T>G Multiple submitters Lynch syndrome 1
p.Ala15= Multiple submitters hereditary neoplastic syndrome
p.Ala207Val Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Ala327= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Ala328Ser Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Ala576= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Ala623= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Ala636= Multiple submitters Lynch syndrome
p.Ala844= Multiple submitters hereditary neoplastic syndrome
p.Ala848= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Ala869= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Arg159= Multiple submitters hereditary neoplastic syndrome
p.Arg227= Multiple submitters hereditary neoplastic syndrome
p.Arg243= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Arg340= Multiple submitters hereditary neoplastic syndrome
p.Arg524= Multiple submitters Lynch syndrome
p.Arg621= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Arg99= Multiple submitters hereditary neoplastic syndrome
p.Asn109Asp Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Asn127= Multiple submitters hereditary neoplastic syndrome
p.Asn311= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Asn583Thr Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Asp209= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Asp283Tyr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Asp442= Multiple submitters hereditary neoplastic syndrome
p.Asp459= Multiple submitters hereditary neoplastic syndrome
p.Asp49= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Asp575= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Asp603= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Gln601= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Gln690= Multiple submitters hereditary neoplastic syndrome
p.Gln793= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Glu378= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Glu569= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Glu731= Multiple submitters hereditary neoplastic syndrome
p.Glu832= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Glu850= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Glu86Gln Multiple submitters hereditary neoplastic syndrome
p.Gly164= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Gly174= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Gly195= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Gly322= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Gly47= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Gly548= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Gly628= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Gly761= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.His466= Multiple submitters hereditary neoplastic syndrome
p.His839Gln Multiple submitters hereditary neoplastic syndrome
p.Ile237= Multiple submitters hereditary neoplastic syndrome

Uncertain significance 2178

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

c.1277-14C>G Expert panel Lynch syndrome
c.1662-18T>C Expert panel Lynch syndrome
p.Arg929Ter Expert panel Lynch syndrome
p.Asn331Asp Expert panel Lynch syndrome 1 ⚠
p.Asp603Asn Expert panel Lynch syndrome ⚠
p.Gln264His Expert panel Lynch syndrome 1 ⚠
p.Glu878Asp Expert panel Lynch syndrome ⚠
p.Glu914Ter Expert panel Lynch syndrome
p.Gly504Arg Expert panel Lynch syndrome 1 ⚠
p.Gly669Arg Expert panel Lynch syndrome 1 ⚠
p.Met1Leu Expert panel Lynch syndrome
p.Met1Val Expert panel Lynch syndrome
p.Met813Val Expert panel Lynch syndrome 1 ⚠
p.Thr933fs Expert panel Lynch syndrome
p.Val655Ile Expert panel Lynch syndrome 1 ⚠
c.1076+3A>G Multiple submitters hereditary neoplastic syndrome
c.1077-3C>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1077-3C>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1276+5C>A Multiple submitters hereditary neoplastic syndrome
c.1277-11C>G Multiple submitters Lynch syndrome 1
c.1386+3A>G Multiple submitters hereditary neoplastic syndrome
c.1386+4T>C Multiple submitters Lynch syndrome
c.1387-5T>A Multiple submitters hereditary neoplastic syndrome
c.1510+4A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1511-3A>G Multiple submitters hereditary neoplastic syndrome
c.1662-3C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1759+3A>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1759+4A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1759+5A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.1760-11T>G Multiple submitters hereditary neoplastic syndrome
c.2005+3A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.2005+4A>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.2005+4A>G Multiple submitters hereditary neoplastic syndrome
c.2006-13A>G Multiple submitters hereditary neoplastic syndrome
c.2006-15T>G Multiple submitters hereditary neoplastic syndrome
c.211+12G>T Multiple submitters hereditary neoplastic syndrome
c.211+5G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.211+5G>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.211+6G>C Multiple submitters hereditary neoplastic syndrome
c.212-2del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.2210+4A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.2210+5G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.2210+5G>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.2210+5G>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.2211-3C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.2458+3A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.2458+4T>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.2458+5G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.2459-3T>G Multiple submitters hereditary neoplastic syndrome
c.2634+4T>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.2634+5del Multiple submitters hereditary neoplastic syndrome
c.366+4A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.367-1G>C Multiple submitters hereditary neoplastic syndrome
c.367-3T>C Multiple submitters hereditary neoplastic syndrome
c.367-3T>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.367-5C>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.646-6A>G Multiple submitters hereditary neoplastic syndrome
c.792+6T>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.942+4A>C Multiple submitters hereditary neoplastic syndrome
c.942+4A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.943-4C>G Multiple submitters hereditary neoplastic syndrome
c.-106G>C Multiple submitters hereditary neoplastic syndrome
c.-11G>C Multiple submitters Lynch syndrome 1
c.-12G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.-14G>A Multiple submitters hereditary neoplastic syndrome
c.-14G>C Multiple submitters hereditary neoplastic syndrome
c.-16G>T Multiple submitters hereditary neoplastic syndrome
c.-18A>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.-192A>G Multiple submitters hereditary neoplastic syndrome
c.-196G>A Multiple submitters hereditary neoplastic syndrome
c.-19G>T Multiple submitters Lynch syndrome 1
c.-1C>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.-210T>C Multiple submitters hereditary neoplastic syndrome
c.-254G>C Multiple submitters hereditary neoplastic syndrome
c.-2A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.-2A>T Multiple submitters hereditary neoplastic syndrome
c.-3G>A Multiple submitters hereditary neoplastic syndrome
c.-4C>G Multiple submitters hereditary neoplastic syndrome
c.-4C>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.-75dup Multiple submitters hereditary neoplastic syndrome
c.-76G>A Multiple submitters hereditary neoplastic syndrome
c.-7T>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
c.-82G>A Multiple submitters Lynch syndrome
c.-94C>G Multiple submitters hereditary neoplastic syndrome
c.-98C>T Multiple submitters hereditary neoplastic syndrome
p.Ala107Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala107Val Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala111Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala120Thr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala123Ser Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala123Thr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala143Thr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala15Val Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala2_Glu7dup Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Ala207Ser Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala230Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala230Gly Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala256Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala266Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala272Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala2Glu Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala305Val Multiple submitters Lynch syndrome ⚠
p.Ala306Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala309Pro Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala365Asp Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala391Asp Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala391Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala398Thr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala45Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala499Pro Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala499Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala499Thr Multiple submitters Lynch syndrome ⚠
p.Ala500Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala50Thr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala53Val Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala54Asp Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala54Pro Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala604Gly Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala609Gly Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala609Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala649_Asn653del Multiple submitters hereditary neoplastic syndrome
p.Ala700Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala710Pro Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala710Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala710Val Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala714Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala727Pro Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala727Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala72Gly Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala739Thr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala739Val Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala765Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala771Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala771Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala781Thr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala789Asp Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala789Val Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala791Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala791Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala791Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala804Thr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala804Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala831Gly Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala834Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala844Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala848Val Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala913Ser Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Ala913Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg159Ile Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Arg159Lys Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Arg214Lys Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Arg219Thr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Arg21Pro Multiple submitters Lynch syndrome 1 ⚠
p.Arg227Ser Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Arg308Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg340Gly Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Arg340Thr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Arg355Ile Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg359Lys Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Arg35Cys Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Arg35His Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Arg373Lys Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Arg373Thr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Arg382Leu Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Arg382Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg382Ser Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Arg383Leu Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Arg389Leu Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Arg39_Asp41del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Arg39Trp Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg444Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg482Thr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Arg501Gly Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Arg524Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg534Pro Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Arg55Pro Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Arg55Trp Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg638Gly Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Arg638Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg680Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg680Leu Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Arg737Thr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Arg929Pro Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Arg96Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg96Pro Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Arg99Ser Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Asn105Ser Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Asn127Thr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Asn138Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn139del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Asn181His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn186Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn242His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn254Thr Multiple submitters Lynch syndrome ⚠
p.Asn263Ser Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Asn412Lys Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Asn416Asp Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Asn486Tyr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Asn535His Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Asn536Asp Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Asn536Ile Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Asn538Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn553Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn596Ile Multiple submitters Lynch syndrome ⚠
p.Asn671His Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Asn792Ile Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Asn798Thr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Asn799del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Asn799Lys Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Asn799Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn84His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn919His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn920Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn920del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Asn920Tyr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Asp116Glu Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Asp116Val Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Asp140Ala Multiple submitters Lynch syndrome ⚠
p.Asp140del Multiple submitters hereditary neoplastic syndrome
p.Asp140Val Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Asp156Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp156His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp180Ala Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Asp182Glu Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Asp209His Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Asp209Tyr Multiple submitters Lynch syndrome 1 ⚠
p.Asp231Tyr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Asp236His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp240Ala Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Asp240Asn Multiple submitters Lynch syndrome ⚠
p.Asp282Ala Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Asp282His Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Asp283Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp303Asn Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Asp303Gly Multiple submitters Lynch syndrome 1 ⚠
p.Asp303His Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Asp319Asn Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Asp319Tyr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Asp352Asn Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Asp352Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp386His Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Asp38Tyr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Asp446Val Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Asp459Gly Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Asp459His Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Asp459Tyr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Asp461Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp475Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp502Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp543Gly Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Asp575Glu Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Asp597Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp646Tyr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Asp646Val Multiple submitters Lynch syndrome 1 ⚠
p.Asp654Glu Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Asp654Val Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Asp660Glu Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Asp742His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp742Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp748Asn Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Asp748Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp758His Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Asp823Asn Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Asp864Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp864del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Asp91Asn Multiple submitters hereditary neoplastic syndrome
p.Asp91Gly Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Asp91Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys176Phe Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Cys527Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys693Arg Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Cys778Trp Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Cys778Tyr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Cys822Tyr Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Cys873Trp Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Gln158Arg Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Gln160Arg Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Gln160Leu Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Gln160Lys Multiple submitters Lynch syndrome ⚠
p.Gln193Pro Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Gln218Glu Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Gln218Lys Multiple submitters Lynch syndrome 1 ⚠
p.Gln264= Multiple submitters Hereditary nonpolyposis colorectal neoplasms
p.Gln264Pro Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Gln288His Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Gln298Arg Multiple submitters Lynch syndrome ⚠
p.Gln324Glu Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Gln337Arg Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Gln339Arg Multiple submitters Inherited polyposis and early onset colorectal cancer - germline testing ⚠
p.Gln339Pro Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Gln348Glu Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Gln348His Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Gln402His Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln409Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln409Lys Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Gln413Glu Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Gln419Arg Multiple submitters Lynch syndrome 1 ⚠
p.Gln429His Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠
p.Gln462= Multiple submitters hereditary neoplastic syndrome
p.Gln462His Multiple submitters Hereditary nonpolyposis colorectal neoplasms ⚠