Gene entry
MLH1
mutL homolog 1
- Chromosome
- 3
- Cytoband
- 3p22.2
- Variants (rsID)
- 441
MLH1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 3 (region 3p22.2). Its official name is “mutL homolog 1”. The reference table lists 441 variants (rsID) for this gene.
Clinically classified variants
428 reference-table entries with clinical significance (first 200 shown).
- rs10849Benignsingle nucleotide variantLynch syndrome
- rs1800734Benignsingle nucleotide variantColorectal cancer, hereditary nonpolyposis, type 2|Lynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
- rs2020873Benignsingle nucleotide variantLynch syndrome|Lynch syndrome 1|Hereditary cancer-predisposing syndrome|Colorectal cancer, hereditary nonpolyposis, type 2|Hereditary nonpolyposis colorectal neoplasms|Carcinoma of colon
- rs28930073Benignsingle nucleotide variantColorectal cancer, sporadic, susceptibility to|Lynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Colorectal cancer, hereditary nonpolyposis, type 2
- rs35831931Benignsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Colorectal cancer, hereditary nonpolyposis, type 2|Hereditary nonpolyposis colorectal neoplasms|Malignant tumor of breast|Breast and/or ovarian cancer|Muir-Torré syndrome
- rs41552415Benignsingle nucleotide variantLynch syndrome
- rs587782626Benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Colorectal cancer, hereditary nonpolyposis, type 2
- rs63750447Benignsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Lynch syndrome 1|Gastric adenocarcinoma|Lung adenocarcinoma|Colorectal cancer, hereditary nonpolyposis, type 2|Colorectal cancer, hereditary nonpolyposis, type 2|Turcot syndrome|Muir-Torré syndrome|Hereditary nonpolyposis colorectal neoplasms|Bile duct cancer
- rs63751049Benignsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Colorectal cancer, non-polyposis|Lynch syndrome 1|Colorectal cancer, hereditary nonpolyposis, type 2|Hereditary nonpolyposis colorectal neoplasms
- rs77120160Benignsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Colorectal cancer, hereditary nonpolyposis, type 2|Hereditary nonpolyposis colorectal neoplasms
- rs1064795693Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
- rs193922368Conflicting interpretationssingle nucleotide variantHereditary nonpolyposis colorectal neoplasms|Lynch syndrome|Hereditary cancer-predisposing syndrome
- rs202038499Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Lynch syndrome|Hereditary nonpolyposis colorectal neoplasms|Colorectal cancer, hereditary nonpolyposis, type 2
- rs267607803Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Colorectal cancer, hereditary nonpolyposis, type 2
- rs267607875Conflicting interpretationssingle nucleotide variantLynch syndrome|Hereditary nonpolyposis colorectal neoplasms
- rs370687064Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Colorectal cancer, hereditary nonpolyposis, type 2|Hereditary nonpolyposis colorectal neoplasms|Muir-Torré syndrome
- rs373076967Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Colorectal cancer, hereditary nonpolyposis, type 2|Hereditary nonpolyposis colorectal neoplasms
- rs397514684Conflicting interpretationssingle nucleotide variantTurcot syndrome|Hereditary cancer-predisposing syndrome|Lynch syndrome
- rs531873434Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Lynch syndrome
- rs550890395Conflicting interpretationssingle nucleotide variantColorectal cancer, hereditary nonpolyposis, type 2|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
- rs587778976Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
- rs587779954Conflicting interpretationssingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Hereditary breast ovarian cancer syndrome|Colorectal cancer, hereditary nonpolyposis, type 2
- rs63749909Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Hereditary nonpolyposis colon cancer
- rs63750656Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Colorectal cancer, hereditary nonpolyposis, type 2|Hereditary nonpolyposis colorectal neoplasms
- rs63750760Conflicting interpretationssingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Colorectal cancer, hereditary nonpolyposis, type 2|Hereditary nonpolyposis colorectal neoplasms|Turcot syndrome|Muir-Torré syndrome|Colorectal cancer, hereditary nonpolyposis, type 2|Hereditary breast ovarian cancer syndrome
- rs63750952Conflicting interpretationssingle nucleotide variantHereditary nonpolyposis colorectal neoplasms|Hereditary cancer-predisposing syndrome|Lynch syndrome 1|Global developmental delay|Choreoathetosis|Aqueductal stenosis|Lynch syndrome|Muir-Torré syndrome|Colorectal cancer, hereditary nonpolyposis, type 2
- rs730881749Conflicting interpretationssingle nucleotide variantHereditary nonpolyposis colorectal neoplasms|Hereditary cancer-predisposing syndrome
- rs730881750Conflicting interpretationssingle nucleotide variantColorectal cancer, hereditary nonpolyposis, type 2|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
- rs769364808Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Lynch syndrome|Colorectal cancer, hereditary nonpolyposis, type 2|Hereditary nonpolyposis colorectal neoplasms
- rs773647920Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Colorectal cancer, hereditary nonpolyposis, type 2|Hereditary nonpolyposis colorectal neoplasms|Turcot syndrome
- rs779759678Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Colorectal cancer, hereditary nonpolyposis, type 2
- rs878853791Conflicting interpretationssingle nucleotide variantColorectal cancer, hereditary nonpolyposis, type 2|Hereditary nonpolyposis colorectal neoplasms
- rs1165500356Likely benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
- rs182963667Likely benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
- rs41295284Likely benignsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Colorectal cancer, hereditary nonpolyposis, type 2
- rs63750114Likely benignsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Colorectal cancer, hereditary nonpolyposis, type 2|Lynch syndrome 1|Hereditary nonpolyposis colorectal neoplasms|Breast and/or ovarian cancer
- rs749683911Likely benignsingle nucleotide variantHereditary nonpolyposis colorectal neoplasms|Hereditary cancer-predisposing syndrome
- rs894876691Likely benignsingle nucleotide variantHereditary nonpolyposis colorectal neoplasms|Hereditary cancer-predisposing syndrome
- rs1057517617Likely pathogenicDeletionColorectal cancer, hereditary nonpolyposis, type 2
- rs1482654951Likely pathogenicsingle nucleotide variantHereditary nonpolyposis colorectal neoplasms
- rs267607709Likely pathogenicsingle nucleotide variantLynch syndrome|Colorectal cancer, hereditary nonpolyposis, type 2|Turcot syndrome
- rs267607719Likely pathogenicDeletionLynch syndrome
- rs267607720Likely pathogenicsingle nucleotide variantLynch syndrome|Hereditary nonpolyposis colorectal neoplasms|Hereditary cancer-predisposing syndrome|Turcot syndrome|Muir-Torré syndrome|Colorectal cancer, hereditary nonpolyposis, type 2
- rs267607722Likely pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
- rs267607726Likely pathogenicsingle nucleotide variantLynch syndrome|Hereditary nonpolyposis colorectal neoplasms
- rs267607732Likely pathogenicsingle nucleotide variantLynch syndrome
- rs267607736Likely pathogenicsingle nucleotide variantLynch syndrome
- rs267607743Likely pathogenicsingle nucleotide variantLynch syndrome|Hereditary nonpolyposis colorectal neoplasms
- rs267607745Likely pathogenicsingle nucleotide variantLynch syndrome|Hereditary nonpolyposis colorectal neoplasms|Hereditary cancer-predisposing syndrome|Lynch-like syndrome|Carcinoma of colon|Muir-Torré syndrome
- rs267607749Likely pathogenicsingle nucleotide variantLynch syndrome|Hereditary nonpolyposis colorectal neoplasms|Hereditary cancer-predisposing syndrome|Carcinoma of colon
- rs267607750Likely pathogenicsingle nucleotide variantLynch syndrome|Colorectal cancer, hereditary nonpolyposis, type 2|Hereditary nonpolyposis colorectal neoplasms|Hereditary cancer-predisposing syndrome
- rs267607753Likely pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
- rs267607765Likely pathogenicsingle nucleotide variantLynch syndrome
- rs267607773Likely pathogenicDeletionLynch syndrome|Colorectal cancer, hereditary nonpolyposis, type 2
- rs267607786Likely pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Carcinoma of colon
- rs267607794Likely pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
- rs267607805Likely pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
- rs267607806Likely pathogenicsingle nucleotide variantLynch syndrome
- rs267607815Likely pathogenicsingle nucleotide variantLynch syndrome
- rs267607816Likely pathogenicsingle nucleotide variantLynch syndrome|Lynch syndrome 1|Lynch-like syndrome
- rs267607831Likely pathogenicsingle nucleotide variantLynch syndrome
- rs267607836Likely pathogenicsingle nucleotide variantLynch syndrome|Hereditary nonpolyposis colorectal neoplasms
- rs267607837Likely pathogenicsingle nucleotide variantLynch syndrome|Hereditary nonpolyposis colorectal neoplasms|Carcinoma of colon
- rs267607845Likely pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
- rs267607851Likely pathogenicsingle nucleotide variantLynch syndrome
- rs267607856Likely pathogenicsingle nucleotide variantLynch syndrome|Hereditary nonpolyposis colorectal neoplasms
- rs267607867Likely pathogenicsingle nucleotide variantLynch syndrome|Hereditary nonpolyposis colorectal neoplasms
- rs267607868Likely pathogenicDeletionLynch syndrome
- rs267607869Likely pathogenicsingle nucleotide variantLynch syndrome|Hereditary nonpolyposis colorectal neoplasms
- rs267607871Likely pathogenicsingle nucleotide variantLynch syndrome|Hereditary nonpolyposis colorectal neoplasms|Hereditary cancer-predisposing syndrome|Turcot syndrome|Muir-Torré syndrome|Colorectal cancer, hereditary nonpolyposis, type 2|Colorectal cancer, hereditary nonpolyposis, type 2
- rs267607881Likely pathogenicDeletionLynch syndrome
- rs267607889Likely pathogenicsingle nucleotide variantLynch syndrome|Hereditary nonpolyposis colorectal neoplasms
- rs587778911Likely pathogenicsingle nucleotide variantLynch syndrome
- rs587778914Likely pathogenicsingle nucleotide variantLynch syndrome|Hereditary nonpolyposis colorectal neoplasms
- rs587778937Likely pathogenicsingle nucleotide variantLynch syndrome
- rs587778972Likely pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Carcinoma of colon
- rs587778978Likely pathogenicsingle nucleotide variantLynch syndrome
- rs587778983Likely pathogenicsingle nucleotide variantLynch syndrome|Hereditary nonpolyposis colorectal neoplasms|Muir-Torré syndrome
- rs587779022Likely pathogenicsingle nucleotide variantLynch syndrome|Hereditary nonpolyposis colorectal neoplasms|Hereditary nonpolyposis colon cancer
- rs587779024Likely pathogenicsingle nucleotide variantLynch syndrome|Hereditary nonpolyposis colorectal neoplasms|Hereditary cancer-predisposing syndrome
- rs587779027Likely pathogenicsingle nucleotide variantLynch syndrome|Hereditary nonpolyposis colorectal neoplasms|Hereditary cancer-predisposing syndrome
- rs587779042Likely pathogenicsingle nucleotide variantLynch syndrome
- rs63749792Likely pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Carcinoma of colon|Hereditary nonpolyposis colon cancer|Colorectal cancer, hereditary nonpolyposis, type 2
- rs63749838Likely pathogenicsingle nucleotide variantLynch syndrome
- rs63749990Likely pathogenicsingle nucleotide variantLynch syndrome 1|Hereditary nonpolyposis colorectal neoplasms
- rs63750016Likely pathogenicsingle nucleotide variantLynch syndrome
- rs63750281Likely pathogenicsingle nucleotide variantLynch syndrome
- rs63750453Likely pathogenicsingle nucleotide variantLynch syndrome 1|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colon cancer|Hereditary nonpolyposis colorectal neoplasms|Carcinoma of colon
- rs63750539Likely pathogenicsingle nucleotide variantLynch syndrome|Hereditary nonpolyposis colorectal neoplasms|Carcinoma of colon
- rs63750610Likely pathogenicsingle nucleotide variantLynch syndrome 1|Hereditary cancer-predisposing syndrome|Turcot syndrome|Muir-Torré syndrome|Colorectal cancer, hereditary nonpolyposis, type 2|Hereditary nonpolyposis colorectal neoplasms
- rs63750641Likely pathogenicsingle nucleotide variantLynch syndrome|Hereditary nonpolyposis colorectal neoplasms|Carcinoma of colon
- rs63751197Likely pathogenicDeletionLynch syndrome 1
- rs63751465Likely pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
- rs63751608Likely pathogenicsingle nucleotide variantLynch syndrome|Hereditary nonpolyposis colorectal neoplasms
- rs786202326Likely pathogenicMicrosatelliteHereditary cancer-predisposing syndrome
- rs863225380Likely pathogenicDuplication
- rs878853780Likely pathogenicsingle nucleotide variantLynch syndrome|Colorectal cancer, hereditary nonpolyposis, type 2|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
- rs1057517541Pathogenicsingle nucleotide variantColorectal cancer, hereditary nonpolyposis, type 2|Hereditary nonpolyposis colorectal neoplasms|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colon cancer
- rs1057520627Pathogenicsingle nucleotide variant
- rs1060500688PathogenicDeletionLynch syndrome|Hereditary cancer-predisposing syndrome
- rs1060500689Pathogenicsingle nucleotide variantHereditary nonpolyposis colorectal neoplasms
- rs1060500698PathogenicDeletionHereditary nonpolyposis colorectal neoplasms|Hereditary cancer-predisposing syndrome
- rs1060500699PathogenicDuplicationHereditary nonpolyposis colorectal neoplasms|Hereditary cancer-predisposing syndrome
- rs1060500703PathogenicDeletionLynch syndrome
- rs1064793177PathogenicDeletion
- rs1064793469PathogenicDeletion
- rs1064794122PathogenicDeletion
- rs1064794267PathogenicDuplicationHereditary nonpolyposis colorectal neoplasms
- rs1064794331PathogenicDuplicationHereditary nonpolyposis colorectal neoplasms
- rs1064794373PathogenicDeletion
- rs1064795441PathogenicDeletionHereditary nonpolyposis colorectal neoplasms|Colorectal cancer, hereditary nonpolyposis, type 2
- rs1064795515PathogenicDeletionHereditary cancer-predisposing syndrome|Colorectal cancer, hereditary nonpolyposis, type 2|Hereditary nonpolyposis colorectal neoplasms
- rs111052004Pathogenicsingle nucleotide variantLynch syndrome
- rs11541859Pathogenicsingle nucleotide variantLynch syndrome
- rs1248251121Pathogenicsingle nucleotide variantHereditary nonpolyposis colorectal neoplasms
- rs1302248679Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
- rs1416171624Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Lynch-like syndrome
- rs267607702PathogenicDeletionLynch syndrome
- rs267607706Pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
- rs267607710Pathogenicsingle nucleotide variantLynch syndrome|Hereditary nonpolyposis colorectal neoplasms|Hereditary cancer-predisposing syndrome|Carcinoma of colon
- rs267607712Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Lynch syndrome|Hereditary nonpolyposis colon cancer
- rs267607713Pathogenicsingle nucleotide variantLynch syndrome 1
- rs267607715PathogenicDeletionLynch syndrome
- rs267607716Pathogenicsingle nucleotide variantLynch syndrome
- rs267607717Pathogenicsingle nucleotide variantLynch syndrome|Hereditary nonpolyposis colorectal neoplasms
- rs267607728PathogenicDeletionLynch syndrome
- rs267607729PathogenicDuplicationLynch syndrome
- rs267607734Pathogenicsingle nucleotide variantLynch syndrome 1|Hereditary nonpolyposis colorectal neoplasms|Muir-Torré syndrome
- rs267607735Pathogenicsingle nucleotide variantColorectal cancer, hereditary nonpolyposis, type 2|Lynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Muir-Torré syndrome|Turcot syndrome|Colorectal cancer, hereditary nonpolyposis, type 2|Lynch syndrome 1
- rs267607738PathogenicDuplicationLynch syndrome 1
- rs267607742Pathogenicsingle nucleotide variantLynch syndrome|Hereditary nonpolyposis colorectal neoplasms
- rs267607744Pathogenicsingle nucleotide variantHereditary nonpolyposis colorectal neoplasms|Hereditary cancer-predisposing syndrome
- rs267607751Pathogenicsingle nucleotide variantLynch syndrome
- rs267607755Pathogenicsingle nucleotide variantLynch syndrome
- rs267607760Pathogenicsingle nucleotide variantLynch syndrome|Colorectal cancer, hereditary nonpolyposis, type 2|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Lynch-like syndrome|Lynch syndrome 1
- rs267607767Pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Colorectal cancer, hereditary nonpolyposis, type 2|Hereditary nonpolyposis colorectal neoplasms|Lynch syndrome 1
- rs267607771Pathogenicsingle nucleotide variantLynch syndrome 1
- rs267607772Pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
- rs267607774PathogenicDeletionLynch syndrome|Hereditary nonpolyposis colorectal neoplasms
- rs267607777Pathogenicsingle nucleotide variantLynch syndrome|Hereditary nonpolyposis colorectal neoplasms|Hereditary cancer-predisposing syndrome
- rs267607783PathogenicDeletionLynch syndrome
- rs267607784Pathogenicsingle nucleotide variantLynch syndrome
- rs267607787PathogenicMicrosatelliteLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
- rs267607788Pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Colorectal cancer, hereditary nonpolyposis, type 2|Hereditary nonpolyposis colorectal neoplasms
- rs267607795Pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Muir-Torré syndrome
- rs267607799PathogenicDeletionLynch syndrome
- rs267607801PathogenicDeletionLynch syndrome
- rs267607819Pathogenicsingle nucleotide variantLynch syndrome|Hereditary nonpolyposis colorectal neoplasms
- rs267607822PathogenicDuplicationLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
- rs267607832Pathogenicsingle nucleotide variantLynch syndrome|Lynch syndrome 1
- rs267607842Pathogenicsingle nucleotide variantLynch syndrome
- rs267607850Pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
- rs267607853Pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Lynch-like syndrome
- rs267607854Pathogenicsingle nucleotide variantLynch syndrome|Carcinoma of colon
- rs267607877PathogenicDeletionLynch syndrome
- rs267607883Pathogenicsingle nucleotide variantLynch syndrome|Hereditary nonpolyposis colorectal neoplasms
- rs267607884Pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome
- rs267607892PathogenicDuplicationLynch syndrome|Hereditary nonpolyposis colorectal neoplasms|Hereditary nonpolyposis colon cancer
- rs267607897PathogenicDeletionLynch syndrome
- rs267607898PathogenicMicrosatelliteLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
- rs267607900Pathogenicsingle nucleotide variantLynch syndrome 1
- rs267607906Pathogenicsingle nucleotide variantLynch syndrome|Hereditary nonpolyposis colorectal neoplasms|Hereditary cancer-predisposing syndrome
- rs41542214Pathogenicsingle nucleotide variantHereditary nonpolyposis colorectal neoplasms|Lynch syndrome
- rs587778881PathogenicDuplicationLynch syndrome
- rs587778884PathogenicDeletionLynch syndrome
- rs587778888Pathogenicsingle nucleotide variantLynch syndrome|Hereditary nonpolyposis colorectal neoplasms
- rs587778889PathogenicDuplicationLynch syndrome
- rs587778896PathogenicDeletionLynch syndrome|Hereditary nonpolyposis colorectal neoplasms
- rs587778899PathogenicDuplicationLynch syndrome
- rs587778900PathogenicDeletionLynch syndrome
- rs587778915PathogenicDeletionLynch syndrome
- rs587778918Pathogenicsingle nucleotide variantLynch syndrome
- rs587778922PathogenicDuplicationLynch syndrome
- rs587778926PathogenicInsertionLynch syndrome
- rs587778928PathogenicDeletionLynch syndrome
- rs587778929Pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome
- rs587778930PathogenicDeletionLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
- rs587778931PathogenicDeletionLynch syndrome
- rs587778933Pathogenicsingle nucleotide variantLynch syndrome|Hereditary nonpolyposis colorectal neoplasms|Hereditary cancer-predisposing syndrome
- rs587778934PathogenicDuplicationLynch syndrome
- rs587778939PathogenicDeletionLynch syndrome
- rs587778944PathogenicDuplicationLynch syndrome
- rs587778946PathogenicDeletionLynch syndrome
- rs587778947PathogenicDuplicationLynch syndrome
- rs587778948PathogenicDuplicationLynch syndrome
- rs587778950PathogenicDeletionLynch syndrome|Lynch syndrome 1
- rs587778953PathogenicDeletionLynch syndrome
- rs587778954PathogenicDeletionLynch syndrome
- rs587778955Pathogenicsingle nucleotide variantLynch syndrome
- rs587778956PathogenicDeletionLynch syndrome
- rs587778962PathogenicDeletionLynch syndrome
- rs587778966PathogenicDuplicationLynch syndrome
- rs587778967Pathogenicsingle nucleotide variantLynch syndrome 1|Hereditary nonpolyposis colorectal neoplasms
- rs587778971Pathogenicsingle nucleotide variantLynch syndrome|Hereditary nonpolyposis colorectal neoplasms|Hereditary cancer-predisposing syndrome|Carcinoma of colon
- rs587778973PathogenicDeletionLynch syndrome|Hereditary nonpolyposis colorectal neoplasms
- rs587778979PathogenicDeletionLynch syndrome
- rs587778981PathogenicMicrosatelliteLynch syndrome
- rs587778997PathogenicDeletionLynch syndrome|Hereditary nonpolyposis colorectal neoplasms
- rs587779006PathogenicMicrosatelliteLynch syndrome
- rs587779009PathogenicDeletionLynch syndrome
Other listed variants
- rs4647221
- rs35045067
- rs41285097
- rs56257992
- rs62244263
- rs63749795
- rs63749804
- rs63749813
- rs63749816
- rs63749818
- rs63749820
- rs63749827
- rs63749828
- rs63749829
- rs63749837
- rs63749845
- rs63749859
- rs63749867
- rs63749876
- rs63749906
- rs63749923
- rs63749926
- rs63749939
- rs63749944
- rs63749950
- rs63749965
- rs63749979
- rs63749981
- rs63749986
- rs63749995
- rs63750005
- rs63750036
- rs63750052
- rs63750059
- rs63750061
- rs63750071
- rs63750081
- rs63750098
- rs63750115
- rs63750131
- rs63750150
- rs63750192
- rs63750193
- rs63750198
- rs63750211
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.