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Gene entry

MSH6

mutS homolog 6

Chromosome
2
Cytoband
2p16.3
Variants (rsID)
286

MSH6 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2p16.3). Its official name is “mutS homolog 6”. The reference table lists 286 variants (rsID) for this gene.

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Clinically classified variants

276 reference-table entries with clinical significance (first 200 shown).

  • rs1800931Benignsingle nucleotide variantLynch syndrome
  • rs1800937Benignsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Colorectal cancer, hereditary nonpolyposis, type 5|Hereditary nonpolyposis colorectal neoplasms|Carcinoma of colon
  • rs2020912Benignsingle nucleotide variantColorectal cancer, hereditary nonpolyposis, type 5|Lynch syndrome|Colorectal / endometrial cancer|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Malignant tumor of breast|Carcinoma of colon|Breast and/or ovarian cancer
  • rs3136228Benignsingle nucleotide variantLynch syndrome
  • rs3136329Benignsingle nucleotide variantLynch syndrome
  • rs3136351Benignsingle nucleotide variantLynch syndrome 1|Hereditary cancer-predisposing syndrome|Colorectal cancer, hereditary nonpolyposis, type 5|Hereditary nonpolyposis colorectal neoplasms|Breast and/or ovarian cancer
  • rs3211299Benignsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Colorectal cancer, non-polyposis|Colorectal cancer, hereditary nonpolyposis, type 5|Hereditary nonpolyposis colorectal neoplasms|Endometrial carcinoma|Carcinoma of colon|Breast and/or ovarian cancer
  • rs587782853BenignDuplicationHereditary cancer-predisposing syndrome|Colorectal cancer, hereditary nonpolyposis, type 5|Hereditary nonpolyposis colorectal neoplasms
  • rs773807182Benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Colorectal cancer, hereditary nonpolyposis, type 5
  • rs863225415BenignDuplication
  • rs1042819Conflicting interpretationssingle nucleotide variantColorectal cancer, hereditary nonpolyposis, type 5|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs1316409501Conflicting interpretationssingle nucleotide variantEndometrial carcinoma|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs146785465Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Colorectal cancer, hereditary nonpolyposis, type 5|Hereditary nonpolyposis colorectal neoplasms
  • rs147453999Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Lynch syndrome|Carcinoma of colon|Colorectal cancer, hereditary nonpolyposis, type 5|bilateral breast cancer|Hereditary nonpolyposis colorectal neoplasms
  • rs186240214Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Colorectal cancer, hereditary nonpolyposis, type 5|Hereditary nonpolyposis colorectal neoplasms|Colorectal cancer, hereditary nonpolyposis, type 5|Endometrial carcinoma|Turcot syndrome
  • rs191109849Conflicting interpretationssingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Lynch syndrome 1|Carcinoma of colon|Endometrial carcinoma|Colorectal cancer, hereditary nonpolyposis, type 5
  • rs201080919Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Lynch syndrome|Colorectal cancer, hereditary nonpolyposis, type 5|Hereditary nonpolyposis colorectal neoplasms
  • rs202127474Conflicting interpretationssingle nucleotide variantLynch syndrome 1|Hereditary cancer-predisposing syndrome|Colorectal cancer, hereditary nonpolyposis, type 5|Hereditary nonpolyposis colorectal neoplasms
  • rs370428032Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Colorectal cancer, hereditary nonpolyposis, type 5|Lynch syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs373129248Conflicting interpretationssingle nucleotide variantColorectal cancer, hereditary nonpolyposis, type 5|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Malignant tumor of breast
  • rs374748889Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Lynch syndrome
  • rs398123230Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Lynch syndrome|Hereditary nonpolyposis colorectal neoplasms|Malignant tumor of breast
  • rs41295278Conflicting interpretationssingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Colorectal cancer, early onset|Colorectal cancer, hereditary nonpolyposis, type 5|Hereditary nonpolyposis colorectal neoplasms|Malignant tumor of breast|Endometrial carcinoma
  • rs545552712Conflicting interpretationssingle nucleotide variantColorectal cancer, hereditary nonpolyposis, type 5|Hereditary nonpolyposis colorectal neoplasms|Hereditary cancer-predisposing syndrome
  • rs587779220Conflicting interpretationssingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Hereditary nonpolyposis colon cancer
  • rs587779922Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs587779924Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Colorectal cancer, hereditary nonpolyposis, type 5|Hereditary nonpolyposis colorectal neoplasms
  • rs587780559Conflicting interpretationssingle nucleotide variantHereditary nonpolyposis colorectal neoplasms|Hereditary cancer-predisposing syndrome
  • rs587781041Conflicting interpretationssingle nucleotide variantColorectal cancer, hereditary nonpolyposis, type 5|Hereditary cancer-predisposing syndrome
  • rs587781510Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Colorectal cancer, hereditary nonpolyposis, type 5|Lynch syndrome
  • rs587782109Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs587782331Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs587782386Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Carcinoma of colon
  • rs587782805Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Colorectal cancer, hereditary nonpolyposis, type 5|Hereditary nonpolyposis colorectal neoplasms
  • rs63749973Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Colorectal cancer, hereditary nonpolyposis, type 5|Hereditary nonpolyposis colorectal neoplasms
  • rs63750119Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs63751113Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs730881787Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Lynch syndrome|Hereditary nonpolyposis colorectal neoplasms|Colorectal cancer, hereditary nonpolyposis, type 5|Endometrial carcinoma
  • rs730881802Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Colorectal cancer, hereditary nonpolyposis, type 5|Hereditary nonpolyposis colorectal neoplasms|Malignant tumor of breast
  • rs730881813Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Colorectal cancer, hereditary nonpolyposis, type 5|Hereditary breast ovarian cancer syndrome
  • rs730881819Conflicting interpretationssingle nucleotide variantHereditary nonpolyposis colorectal neoplasms|Colorectal cancer, hereditary nonpolyposis, type 5|Hereditary cancer-predisposing syndrome
  • rs730882130Conflicting interpretationssingle nucleotide variantColorectal cancer, hereditary nonpolyposis, type 5|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs750528093Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Endometrial carcinoma|Hereditary nonpolyposis colorectal neoplasms
  • rs753034685Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Malignant tumor of breast
  • rs768944975Conflicting interpretationssingle nucleotide variantHereditary nonpolyposis colorectal neoplasms|Hereditary cancer-predisposing syndrome
  • rs770992427Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs781572949Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs786202772Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Lynch syndrome|Colorectal cancer, hereditary nonpolyposis, type 5|Hereditary nonpolyposis colorectal neoplasms
  • rs863224614Conflicting interpretationssingle nucleotide variantLynch syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs864622607Conflicting interpretationssingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs868760377Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Colorectal cancer, hereditary nonpolyposis, type 5
  • rs876658308Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Colorectal cancer, hereditary nonpolyposis, type 5|Hereditary nonpolyposis colorectal neoplasms
  • rs876658497Conflicting interpretationsDuplicationHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs876659495Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs876660097Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs34625968Likely benignsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Colorectal cancer, hereditary nonpolyposis, type 5
  • rs370462886Likely benignsingle nucleotide variantHereditary nonpolyposis colorectal neoplasms|Hereditary cancer-predisposing syndrome
  • rs377722465Likely benignsingle nucleotide variantHereditary nonpolyposis colorectal neoplasms|Colorectal cancer, hereditary nonpolyposis, type 5|Hereditary cancer-predisposing syndrome
  • rs63750252Likely benignsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Colorectal cancer, hereditary nonpolyposis, type 5|Carcinoma of colon
  • rs63751005Likely benignsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Lynch syndrome 1|Colorectal cancer, hereditary nonpolyposis, type 5|Hereditary nonpolyposis colorectal neoplasms|Carcinoma of colon
  • rs747924946Likely benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs786201210Likely benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs786203968Likely benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs990650403Likely benignsingle nucleotide variantHereditary nonpolyposis colorectal neoplasms|Hereditary cancer-predisposing syndrome
  • rs1057517552Likely pathogenicDeletionColorectal cancer, hereditary nonpolyposis, type 5
  • rs1302369946Likely pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome
  • rs267608035Likely pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome
  • rs267608096Likely pathogenicsingle nucleotide variantLynch syndrome
  • rs267608098Likely pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Colorectal cancer, hereditary nonpolyposis, type 5|Endometrial carcinoma|Carcinoma of colon|Hereditary nonpolyposis colon cancer|Breast and/or ovarian cancer
  • rs267608106Likely pathogenicDeletionLynch syndrome
  • rs267608112Likely pathogenicDeletionLynch syndrome
  • rs587779231Likely pathogenicsingle nucleotide variantLynch syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs63750523Likely pathogenicDuplicationHereditary cancer-predisposing syndrome|Carcinoma of colon
  • rs63750617Likely pathogenicsingle nucleotide variantLynch syndrome 1|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Colorectal cancer, hereditary nonpolyposis, type 5|Hereditary nonpolyposis colon cancer|Malignant tumor of breast|Breast carcinoma
  • rs63751328Likely pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs863225399Likely pathogenicDuplication
  • rs863225404Likely pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Carcinoma of colon
  • rs876660095Likely pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Lynch syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs876660943Likely pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Colorectal cancer, hereditary nonpolyposis, type 5|Endometrial carcinoma|Turcot syndrome
  • rs876661125Likely pathogenicDeletion
  • rs878853745Likely pathogenicsingle nucleotide variantHereditary nonpolyposis colorectal neoplasms|Hereditary cancer-predisposing syndrome
  • rs1057517551PathogenicDuplicationColorectal cancer, hereditary nonpolyposis, type 5|Hereditary nonpolyposis colorectal neoplasms|Hereditary cancer-predisposing syndrome
  • rs1057517763Pathogenicsingle nucleotide variantHereditary nonpolyposis colorectal neoplasms|Hereditary cancer-predisposing syndrome
  • rs1057517764PathogenicDuplicationCarcinoma of colon|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Hereditary nonpolyposis colon cancer
  • rs1057520605Pathogenicsingle nucleotide variant
  • rs1060502875PathogenicDeletionHereditary nonpolyposis colorectal neoplasms|Hereditary cancer-predisposing syndrome
  • rs1060502876Pathogenicsingle nucleotide variantHereditary nonpolyposis colorectal neoplasms|Hereditary cancer-predisposing syndrome
  • rs1060502886PathogenicDeletionHereditary nonpolyposis colorectal neoplasms|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colon cancer
  • rs1060502890PathogenicDeletionHereditary nonpolyposis colorectal neoplasms|Hereditary cancer-predisposing syndrome
  • rs1060502903PathogenicDuplicationHereditary nonpolyposis colorectal neoplasms
  • rs1060502918PathogenicDeletionHereditary nonpolyposis colorectal neoplasms|Hereditary cancer-predisposing syndrome
  • rs1060502932PathogenicDeletionHereditary nonpolyposis colorectal neoplasms
  • rs1060502937Pathogenicsingle nucleotide variantHereditary nonpolyposis colorectal neoplasms
  • rs1060502941PathogenicDeletionHereditary nonpolyposis colorectal neoplasms
  • rs1064793183PathogenicDeletion
  • rs1064793185PathogenicDeletionHereditary nonpolyposis colorectal carcinoma
  • rs1064793671Pathogenicsingle nucleotide variantHereditary nonpolyposis colorectal neoplasms
  • rs1064794055PathogenicDeletionHereditary nonpolyposis colorectal neoplasms|Hereditary cancer-predisposing syndrome|Endometrial carcinoma
  • rs1064794164PathogenicMicrosatelliteHereditary nonpolyposis colorectal neoplasms
  • rs1064794302Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome
  • rs1064794943Pathogenicsingle nucleotide variantHereditary nonpolyposis colorectal neoplasms
  • rs1064795256Pathogenicsingle nucleotide variantHereditary nonpolyposis colorectal neoplasms|Endometrial carcinoma
  • rs1064795591Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs1064795629PathogenicDeletionHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colon cancer|Hereditary nonpolyposis colorectal neoplasms
  • rs1064795960Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome
  • rs1333555322Pathogenicsingle nucleotide variantLynch syndrome
  • rs1416452389Pathogenicsingle nucleotide variantCarcinoma of colon
  • rs1432436629Pathogenicsingle nucleotide variantHereditary nonpolyposis colorectal neoplasms
  • rs146816935Pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs200492211Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Lynch syndrome|Hereditary nonpolyposis colorectal neoplasms|Colorectal cancer, hereditary nonpolyposis, type 5
  • rs267608036Pathogenicsingle nucleotide variantLynch syndrome
  • rs267608037PathogenicMicrosatelliteLynch syndrome
  • rs267608046Pathogenicsingle nucleotide variantLynch syndrome
  • rs267608048Pathogenicsingle nucleotide variantLynch syndrome|Endometrial carcinoma
  • rs267608050PathogenicDeletionLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs267608055Pathogenicsingle nucleotide variantLynch syndrome
  • rs267608056PathogenicDeletionLynch syndrome
  • rs267608057PathogenicMicrosatelliteLynch syndrome|Hereditary cancer-predisposing syndrome
  • rs267608059Pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs267608062PathogenicDuplicationHereditary cancer-predisposing syndrome|Colorectal cancer, hereditary nonpolyposis, type 5
  • rs267608064PathogenicDeletionLynch syndrome
  • rs267608065PathogenicDeletionLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Endometrial carcinoma
  • rs267608066Pathogenicsingle nucleotide variantLynch syndrome|Colorectal cancer, hereditary nonpolyposis, type 5
  • rs267608068Pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Endometrial carcinoma|Hereditary nonpolyposis colon cancer
  • rs267608083PathogenicDuplicationHereditary cancer-predisposing syndrome|Lynch syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs267608084Pathogenicsingle nucleotide variantLynch syndrome
  • rs267608086Pathogenicsingle nucleotide variantLynch syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs267608090PathogenicDeletionLynch syndrome
  • rs267608094Pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Colorectal cancer, hereditary nonpolyposis, type 5|Hereditary nonpolyposis colorectal neoplasms|Hereditary nonpolyposis colon cancer
  • rs267608095PathogenicDuplicationLynch syndrome
  • rs267608101PathogenicDuplicationLynch syndrome
  • rs267608111Pathogenicsingle nucleotide variantLynch syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs267608118PathogenicDuplicationLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs267608122Pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Colorectal cancer, hereditary nonpolyposis, type 5|Endometrial carcinoma
  • rs267608124PathogenicInsertionLynch syndrome
  • rs267608131Pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs374230313Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome
  • rs587776705PathogenicDeletionMismatch repair cancer syndrome 3
  • rs587779203PathogenicDeletionLynch syndrome
  • rs587779204Pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Hereditary nonpolyposis colon cancer
  • rs587779206PathogenicDeletionLynch syndrome|Hereditary nonpolyposis colorectal neoplasms|Hereditary cancer-predisposing syndrome|Endometrial carcinoma
  • rs587779208Pathogenicsingle nucleotide variantLynch syndrome
  • rs587779209PathogenicDeletionLynch syndrome
  • rs587779215Pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs587779216PathogenicDeletionLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs587779234Pathogenicsingle nucleotide variantLynch syndrome
  • rs587779237PathogenicDeletionLynch syndrome
  • rs587779241PathogenicDuplicationLynch syndrome|Colorectal cancer, hereditary nonpolyposis, type 5|Hereditary nonpolyposis colorectal neoplasms|Hereditary cancer-predisposing syndrome
  • rs587779243PathogenicDeletionLynch syndrome|Carcinoma of colon|Ovarian carcinoma|Colorectal cancer, hereditary nonpolyposis, type 5
  • rs587779245Pathogenicsingle nucleotide variantLynch syndrome
  • rs587779246Pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Colorectal cancer, hereditary nonpolyposis, type 5|Carcinoma of colon|Hereditary nonpolyposis colon cancer
  • rs587779247PathogenicDeletionLynch syndrome
  • rs587779250PathogenicDeletionLynch syndrome|Hereditary cancer-predisposing syndrome
  • rs587779251PathogenicDeletionLynch syndrome
  • rs587779252Pathogenicsingle nucleotide variantMismatch repair cancer syndrome 3|Lynch syndrome|Colorectal cancer, hereditary nonpolyposis, type 5
  • rs587779256PathogenicDeletionLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs587779260PathogenicInsertionLynch syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs587779289PathogenicInsertionLynch syndrome
  • rs587779291PathogenicDeletionLynch syndrome
  • rs587779315Pathogenicsingle nucleotide variantLynch syndrome|Malignant tumor of breast|Hereditary nonpolyposis colorectal neoplasms
  • rs587779319PathogenicDeletionLynch syndrome
  • rs587779914Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs587779941PathogenicDeletionHereditary nonpolyposis colorectal neoplasms|Hereditary cancer-predisposing syndrome
  • rs587779945PathogenicMicrosatellite
  • rs587780538Pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome
  • rs587781408Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome
  • rs587781659PathogenicDuplicationHereditary cancer-predisposing syndrome
  • rs587782111PathogenicDuplicationHereditary cancer-predisposing syndrome|Lynch syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs587782172PathogenicDeletionHereditary cancer-predisposing syndrome
  • rs587782281PathogenicDeletionHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Hereditary nonpolyposis colon cancer|Colorectal cancer, hereditary nonpolyposis, type 5
  • rs587782593Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs587782638PathogenicDeletionHereditary cancer-predisposing syndrome
  • rs587782809PathogenicDeletionHereditary cancer-predisposing syndrome
  • rs63749873Pathogenicsingle nucleotide variantLynch syndrome|Lynch syndrome 1|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Colorectal cancer, hereditary nonpolyposis, type 5|Carcinoma of colon
  • rs63749938PathogenicDeletionLynch syndrome
  • rs63749980Pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Hereditary nonpolyposis colon cancer|Colorectal cancer, hereditary nonpolyposis, type 5
  • rs63749999Pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Endometrial carcinoma|Turcot syndrome|Colorectal cancer, hereditary nonpolyposis, type 5|Hereditary nonpolyposis colon cancer|Endometrial carcinoma
  • rs63750075PathogenicMicrosatelliteLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Lynch syndrome 1|Carcinoma of colon
  • rs63750111Pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Lynch syndrome 1
  • rs63750139Pathogenicsingle nucleotide variantLynch syndrome|Colorectal cancer, hereditary nonpolyposis, type 5|Hereditary nonpolyposis colorectal neoplasms
  • rs63750140Pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome
  • rs63750196PathogenicDeletionLynch syndrome
  • rs63750258Pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Lynch syndrome 1
  • rs63750262PathogenicMicrosatelliteLynch syndrome
  • rs63750296PathogenicInsertionLynch syndrome
  • rs63750342Pathogenicsingle nucleotide variantLynch syndrome|Lynch syndrome 1
  • rs63750356Pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs63750377PathogenicDeletionLynch syndrome
  • rs63750552Pathogenicsingle nucleotide variantLynch syndrome
  • rs63750554Pathogenicsingle nucleotide variantLynch syndrome
  • rs63750563Pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Colorectal cancer, hereditary nonpolyposis, type 5|Hereditary nonpolyposis colorectal neoplasms|Hereditary nonpolyposis colon cancer
  • rs63750564Pathogenicsingle nucleotide variantLynch syndrome
  • rs63750647PathogenicDeletionHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs63750731PathogenicDuplicationLynch syndrome
  • rs63750735PathogenicDeletionLynch syndrome|Hereditary nonpolyposis colorectal neoplasms|Colorectal cancer, hereditary nonpolyposis, type 5|Endometrial carcinoma
  • rs63750741Pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Colorectal cancer, hereditary nonpolyposis, type 5|Hereditary nonpolyposis colorectal neoplasms|Lynch syndrome 1
  • rs63750833PathogenicMicrosatelliteLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Hereditary nonpolyposis colon cancer
  • rs63750854PathogenicDuplicationLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Colorectal cancer, hereditary nonpolyposis, type 5
  • rs63750904PathogenicDeletionLynch syndrome
  • rs63750909Pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Colorectal cancer, hereditary nonpolyposis, type 5|Hereditary nonpolyposis colorectal neoplasms|Carcinoma of colon

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.