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Gene entry

MSH2

mutS homolog 2

Chromosome
2
Cytoband
2p21-p16.3
Variants (rsID)
472

MSH2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2p21-p16.3). Its official name is “mutS homolog 2”. The reference table lists 472 variants (rsID) for this gene.

Clinically classified variants

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

  • rs145400590Benignsingle nucleotide variantHereditary nonpolyposis colorectal neoplasms|Hereditary cancer-predisposing syndrome|Lynch syndrome 1|Malignant tumor of breast
  • rs34136999Benignsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Colorectal cancer, non-polyposis|Lynch syndrome 1|Hereditary nonpolyposis colorectal neoplasms|Malignant tumor of breast
  • rs4608577Benignsingle nucleotide variantLynch syndrome
  • rs4638843Benignsingle nucleotide variantLynch syndrome
  • rs4987188Benignsingle nucleotide variantMSH2 POLYMORPHISM|Lynch syndrome|Lynch syndrome 1|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Breast carcinoma|Carcinoma of colon
  • rs587778525Benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs61756468Benignsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Lynch syndrome 1|Hereditary nonpolyposis colorectal neoplasms|Carcinoma of colon
  • rs141711342Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Lynch syndrome 1|Lynch syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs145649774Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Lynch syndrome|Hereditary nonpolyposis colorectal neoplasms|Lynch syndrome 1|Endometrial carcinoma
  • rs189015988Conflicting interpretationssingle nucleotide variantLynch syndrome 1|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs189025757Conflicting interpretationssingle nucleotide variantHereditary nonpolyposis colorectal neoplasms|Lynch syndrome 1|Hereditary cancer-predisposing syndrome
  • rs200252727Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs201334592Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Lynch syndrome 1|Hereditary nonpolyposis colorectal neoplasms
  • rs202145681Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome|Hereditary nonpolyposis colorectal neoplasms|Lynch syndrome 1|Malignant tumor of breast|Hereditary nonpolyposis colon cancer
  • rs202215396Conflicting interpretationssingle nucleotide variantLynch syndrome|Lynch syndrome 1|Hereditary nonpolyposis colorectal neoplasms|Hereditary cancer-predisposing syndrome
  • rs267607939Conflicting interpretationssingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Renal cell carcinoma, papillary, 1|Lynch syndrome 1|Turcot syndrome|Muir-Torré syndrome|Lynch syndrome 1|Hereditary nonpolyposis colorectal neoplasms|Hereditary nonpolyposis colon cancer
  • rs267608003Conflicting interpretationssingle nucleotide variantLynch syndrome 1|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs34312619Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Lynch syndrome 1|Hereditary nonpolyposis colorectal neoplasms
  • rs368596736Conflicting interpretationssingle nucleotide variantLynch syndrome 1|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs369853630Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Lynch syndrome 1|Hereditary nonpolyposis colorectal neoplasms|Turcot syndrome
  • rs373226409Conflicting interpretationssingle nucleotide variantLynch syndrome 1|Hereditary cancer-predisposing syndrome|Lynch syndrome|Hereditary nonpolyposis colorectal neoplasms|Malignant tumor of breast
  • rs376796243Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs533553381Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Lynch syndrome|Lynch syndrome 1|Hereditary nonpolyposis colorectal neoplasms
  • rs547444746Conflicting interpretationssingle nucleotide variantLynch syndrome 1|Hereditary nonpolyposis colorectal neoplasms
  • rs587779082Conflicting interpretationsMicrosatelliteLynch syndrome 1|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Rectal neoplasm
  • rs587779969Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Lynch syndrome 1|Hereditary nonpolyposis colorectal neoplasms|Carcinoma of colon
  • rs587779976Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome
  • rs587781314Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Lynch syndrome 1
  • rs63750330Conflicting interpretationssingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Lynch syndrome 1|Hereditary nonpolyposis colorectal neoplasms|Malignant tumor of breast
  • rs63750600Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Lynch syndrome 1|Hereditary nonpolyposis colorectal neoplasms
  • rs63750820Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Lynch syndrome 1|Malignant tumor of breast
  • rs63751604Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Lynch-like syndrome
  • rs786202334Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Lynch syndrome 1
  • rs202026056Likely benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Lynch syndrome|Hereditary nonpolyposis colorectal neoplasms|Malignant tumor of breast
  • rs372350768Likely benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs63749910Likely benignsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Lynch syndrome 1|Hereditary nonpolyposis colorectal neoplasms|Breast and/or ovarian cancer
  • rs63750466Likely benignsingle nucleotide variantLynch syndrome 1|Hereditary cancer-predisposing syndrome|Lynch syndrome|Hereditary nonpolyposis colorectal neoplasms|Breast carcinoma|Malignant tumor of breast
  • rs75352573Likely benignsingle nucleotide variantHereditary cancer-predisposing syndrome
  • rs786203744Likely benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Lynch syndrome 1
  • rs1060501991Likely pathogenicsingle nucleotide variantLynch syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs267607917Likely pathogenicsingle nucleotide variantLynch syndrome
  • rs267607925Likely pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs267607929Likely pathogenicDeletionLynch syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs267607933Likely pathogenicsingle nucleotide variantLynch syndrome
  • rs267607944Likely pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome
  • rs267607948Likely pathogenicsingle nucleotide variantLynch syndrome
  • rs267607949Likely pathogenicsingle nucleotide variantLynch syndrome
  • rs267607953Likely pathogenicsingle nucleotide variantLynch syndrome
  • rs267607956Likely pathogenicsingle nucleotide variantLynch syndrome
  • rs267607971Likely pathogenicsingle nucleotide variantLynch syndrome|Hereditary nonpolyposis colorectal neoplasms|Hereditary nonpolyposis colon cancer
  • rs267607972Likely pathogenicsingle nucleotide variantEndometrial carcinoma|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs267607978Likely pathogenicMicrosatelliteHereditary cancer-predisposing syndrome
  • rs267607979Likely pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs267607983Likely pathogenicsingle nucleotide variantLynch syndrome
  • rs267607985Likely pathogenicsingle nucleotide variantLynch syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs267607986Likely pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs267607988Likely pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs267607991Likely pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colon cancer
  • rs267607996Likely pathogenicsingle nucleotide variantLynch syndrome
  • rs267608001Likely pathogenicsingle nucleotide variantLynch syndrome|Lynch syndrome 1
  • rs267608002Likely pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs267608010Likely pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs267608019Likely pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs267608020Likely pathogenicsingle nucleotide variantLynch syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs587779110Likely pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs587779163Likely pathogenicsingle nucleotide variantLynch syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs587779169Likely pathogenicsingle nucleotide variantLynch syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs587779182Likely pathogenicDeletionLynch syndrome
  • rs587779193Likely pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs587779195Likely pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs587779198Likely pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Lynch syndrome 1|Hereditary nonpolyposis colon cancer|Carcinoma of colon
  • rs587782408Likely pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome
  • rs587783053Likely pathogenicDeletionLynch syndrome 1
  • rs63749846Likely pathogenicsingle nucleotide variantLynch syndrome
  • rs63750232Likely pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs63750234Likely pathogenicsingle nucleotide variantLynch syndrome
  • rs63751147Likely pathogenicsingle nucleotide variantLynch syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs63751429Likely pathogenicsingle nucleotide variantLynch syndrome
  • rs63751432Likely pathogenicsingle nucleotide variantLynch syndrome 1
  • rs786204082Likely pathogenicsingle nucleotide variantHereditary nonpolyposis colorectal neoplasms|Hereditary cancer-predisposing syndrome|Lynch syndrome
  • rs863225385Likely pathogenicDeletion
  • rs863225386Likely pathogenicsingle nucleotide variant
  • rs863225389Likely pathogenicDeletion
  • rs863225391Likely pathogenicDeletion
  • rs863225396Likely pathogenicsingle nucleotide variant
  • rs1057520735Pathogenicsingle nucleotide variantHereditary nonpolyposis colorectal neoplasms|Lynch syndrome 1
  • rs1060502000PathogenicDeletionHereditary nonpolyposis colorectal neoplasms
  • rs1060502001Pathogenicsingle nucleotide variantHereditary nonpolyposis colorectal neoplasms
  • rs1060502023Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Lynch syndrome 1|Hereditary nonpolyposis colorectal neoplasms
  • rs1060502032Pathogenicsingle nucleotide variantHereditary nonpolyposis colorectal neoplasms
  • rs1060502035PathogenicDuplicationHereditary nonpolyposis colorectal neoplasms
  • rs1060502039PathogenicDeletionHereditary nonpolyposis colorectal neoplasms
  • rs1064793561PathogenicDeletionHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs1064793863PathogenicInsertion
  • rs1064794071PathogenicDeletion
  • rs1064794809PathogenicDeletionHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs1064795127PathogenicDeletionHereditary cancer-predisposing syndrome
  • rs1064795653PathogenicDeletionHereditary cancer-predisposing syndrome
  • rs1114167853PathogenicDeletionHereditary cancer-predisposing syndrome
  • rs1230083633Pathogenicsingle nucleotide variantHereditary nonpolyposis colorectal neoplasms
  • rs193922376Pathogenicsingle nucleotide variantLynch syndrome 1|Lynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Lynch-like syndrome|Carcinoma of colon|Breast carcinoma|Hereditary nonpolyposis colon cancer
  • rs267607691PathogenicInsertionLynch syndrome
  • rs267607696PathogenicInsertionLynch syndrome
  • rs267607928PathogenicDeletionLynch syndrome
  • rs267607930Pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs267607934Pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs267607943Pathogenicsingle nucleotide variantLynch syndrome 1|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs267607950Pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Lynch-like syndrome|Carcinoma of colon|Lynch syndrome 1
  • rs267607954Pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs267607955PathogenicDeletionLynch syndrome
  • rs267607962Pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs267607970Pathogenicsingle nucleotide variantMismatch repair cancer syndrome 2|Lynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Lynch-like syndrome
  • rs267607974PathogenicDeletionLynch syndrome
  • rs267607976Pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs267607977PathogenicInsertionLynch syndrome|Hereditary nonpolyposis colorectal neoplasms|Hereditary cancer-predisposing syndrome
  • rs267607984PathogenicDeletionLynch syndrome|Breast and/or ovarian cancer|Hereditary nonpolyposis colorectal neoplasms
  • rs267607990Pathogenicsingle nucleotide variantMismatch repair cancer syndrome 2
  • rs267607994Pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs267607995Pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Hereditary nonpolyposis colon cancer
  • rs267608000PathogenicDeletionLynch syndrome
  • rs267608009PathogenicDeletionLynch syndrome
  • rs267608011Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs267608017Pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs281864944PathogenicDeletionLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs28929483Pathogenicsingle nucleotide variantLynch syndrome 1|Lynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs28929484Pathogenicsingle nucleotide variantLynch syndrome 1|Lynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs34986638Pathogenicsingle nucleotide variantLynch syndrome
  • rs370970617Pathogenicsingle nucleotide variantHereditary nonpolyposis colorectal neoplasms
  • rs587779063Pathogenicsingle nucleotide variantLynch syndrome
  • rs587779065Pathogenicsingle nucleotide variantLynch syndrome|Lynch-like syndrome
  • rs587779068PathogenicDeletionLynch syndrome
  • rs587779070Pathogenicsingle nucleotide variantLynch syndrome
  • rs587779073PathogenicDeletionLynch syndrome
  • rs587779087Pathogenicsingle nucleotide variantLynch syndrome 1|Hereditary nonpolyposis colorectal neoplasms
  • rs587779088PathogenicDeletionLynch syndrome
  • rs587779089Pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome
  • rs587779093Pathogenicsingle nucleotide variantLynch syndrome
  • rs587779094PathogenicDuplicationLynch syndrome|Breast and/or ovarian cancer
  • rs587779097Pathogenicsingle nucleotide variantLynch syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs587779102Pathogenicsingle nucleotide variantLynch syndrome
  • rs587779103PathogenicDuplicationLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs587779104Pathogenicsingle nucleotide variantLynch syndrome
  • rs587779112PathogenicDeletionLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs587779117PathogenicMicrosatelliteLynch syndrome
  • rs587779119PathogenicDeletionLynch syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs587779120PathogenicDeletionLynch syndrome
  • rs587779129PathogenicMicrosatelliteLynch syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs587779135PathogenicDeletionLynch syndrome
  • rs587779136Pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs587779138Pathogenicsingle nucleotide variantLynch syndrome
  • rs587779140PathogenicDuplicationLynch syndrome
  • rs587779143Pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs587779144PathogenicDuplicationLynch syndrome
  • rs587779145Pathogenicsingle nucleotide variantLynch syndrome
  • rs587779146PathogenicDuplicationLynch syndrome
  • rs587779148PathogenicMicrosatelliteLynch syndrome|Lynch syndrome 1|Hereditary nonpolyposis colorectal neoplasms|Hereditary cancer-predisposing syndrome
  • rs587779149PathogenicDeletionLynch syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs587779152Pathogenicsingle nucleotide variantLynch syndrome
  • rs587779165PathogenicMicrosatelliteLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Carcinoma of colon
  • rs587779167Pathogenicsingle nucleotide variantLynch syndrome 1|Hereditary nonpolyposis colorectal neoplasms
  • rs587779170Pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colon cancer|Hereditary nonpolyposis colorectal neoplasms
  • rs587779173Pathogenicsingle nucleotide variantLynch syndrome
  • rs587779174PathogenicDeletionLynch syndrome
  • rs587779175PathogenicDuplicationLynch syndrome
  • rs587779176PathogenicDuplicationLynch syndrome
  • rs587779179PathogenicDeletionLynch syndrome
  • rs587779188PathogenicDeletionLynch syndrome
  • rs587779189PathogenicDeletionLynch syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs587779192PathogenicDeletionLynch syndrome
  • rs587779964PathogenicDeletion
  • rs587779979PathogenicDeletionHereditary nonpolyposis colorectal neoplasms|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colon cancer
  • rs587782561PathogenicDuplicationHereditary cancer-predisposing syndrome
  • rs587782777PathogenicDeletionHereditary cancer-predisposing syndrome
  • rs587783055PathogenicDuplicationLynch syndrome 1
  • rs63749802Pathogenicsingle nucleotide variantLynch syndrome
  • rs63749811PathogenicDeletionLynch syndrome 1|Lynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Hereditary nonpolyposis colon cancer
  • rs63749814PathogenicDeletionLynch syndrome
  • rs63749830Pathogenicsingle nucleotide variantLynch syndrome|Hereditary nonpolyposis colorectal neoplasms|Hereditary cancer-predisposing syndrome
  • rs63749831PathogenicDeletionLynch syndrome 1|Lynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Carcinoma of colon
  • rs63749832PathogenicDeletionHereditary cancer-predisposing syndrome|Lynch syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs63749849Pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Lynch syndrome 1|Hereditary nonpolyposis colorectal neoplasms|Lynch syndrome 1|Turcot syndrome|Muir-Torré syndrome|Hereditary nonpolyposis colon cancer|Lynch-like syndrome|Rhabdomyosarcoma
  • rs63749850PathogenicDuplicationLynch syndrome
  • rs63749852PathogenicDuplicationLynch syndrome
  • rs63749854Pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs63749872PathogenicDeletionLynch syndrome
  • rs63749878PathogenicDuplicationLynch syndrome
  • rs63749902PathogenicDeletionLynch syndrome
  • rs63749913PathogenicDeletionLynch syndrome
  • rs63749914Pathogenicsingle nucleotide variantLynch syndrome|Lynch syndrome 1|Hereditary nonpolyposis colorectal neoplasms
  • rs63749915Pathogenicsingle nucleotide variantLynch syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs63749917Pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs63749920Pathogenicsingle nucleotide variantLynch syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs63749930PathogenicMicrosatelliteLynch syndrome|Hereditary nonpolyposis colorectal neoplasms|Hereditary cancer-predisposing syndrome|Carcinoma of colon
  • rs63749932Pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Lynch syndrome 1|Malignant tumor of ascending colon|Lynch-like syndrome
  • rs63749947Pathogenicsingle nucleotide variantLynch syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs63749949Pathogenicsingle nucleotide variant
  • rs63749963PathogenicDeletionLynch syndrome
  • rs63749975PathogenicMicrosatelliteLynch syndrome
  • rs63749983PathogenicDeletionLynch syndrome|Hereditary cancer-predisposing syndrome
  • rs63749984Pathogenicsingle nucleotide variantLynch syndrome|Hereditary nonpolyposis colorectal neoplasms

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.