MSH2 Chromosome 2
MutS homolog 2
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What This Gene Does
This locus is frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). When cloned, it was discovered to be a human homolog of the E. coli mismatch repair gene mutS, consistent with the characteristic alterations in microsatellite sequences (RER+ phenotype) found in HNPCC. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
Gene Info
Gene Group
"MutS homologs|BRCA1-associated genome surveillance complex"
Locus Type
gene with protein product
Location
2p21-p16.3
Ensembl
ENSG00000095002
Associated Conditions (62)
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
MSH2-related disorder
Lynch syndrome
Malignant tumor of urinary bladder
Familial cancer of breast
Intestinal polyposis syndrome
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Breast and/or ovarian cancer
Colon cancer
Hereditary cancer
Breast carcinoma
Hereditary nonpolyposis colon cancer
Mismatch repair cancer syndrome 1
Carcinoma of colon
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer
+42 more conditions
Key Variants
RS1013401625
Conflicting classifications of pathogenicity
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Lynch syndrome 1
Health Risk
RS1021303606
Conflicting classifications of pathogenicity
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, MSH2-related disorder
Health Risk
RS1024743168
Conflicting classifications of pathogenicity
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
Health Risk
RS1032873228
Conflicting classifications of pathogenicity
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Lynch syndrome
Health Risk
RS1038735071
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome
Health Risk
RS104895022
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome
Health Risk
RS1051194508
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome
Health Risk
RS1057520316
Conflicting classifications of pathogenicity
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Lynch syndrome
Health Risk
RS1057521671
Conflicting classifications of pathogenicity
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Lynch syndrome 1
Health Risk
RS1057524512
Conflicting classifications of pathogenicity
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
Health Risk
RS1057524722
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
Health Risk
RS1060499876
Conflicting classifications of pathogenicity
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
Health Risk
All Variants (2681)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS63750881 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome |
| RS63750887 | Health Risk | Conflicting classifications of pathogenicity | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Lynch syndrome |
| RS63750902 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1 |
| RS63750910 | Health Risk | Conflicting classifications of pathogenicity | Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS63750913 | Health Risk | Conflicting classifications of pathogenicity | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750966 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1 |
| RS63750970 | Health Risk | Conflicting classifications of pathogenicity | Lynch syndrome, Lynch syndrome 1, Hereditary cancer-predisposing syndrome |
| RS63750997 | Health Risk | Conflicting classifications of pathogenicity | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63751054 | Health Risk | Conflicting classifications of pathogenicity | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Muir-Torré syndrome |
| RS63751089 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Muir-Torré syndrome, Hereditary cancer-predisposing syndrome |
| RS63751105 | Health Risk | Conflicting classifications of pathogenicity | Lynch syndrome, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63751107 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1 |
| RS63751125 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1 |
| RS63751147 | Health Risk | Conflicting classifications of pathogenicity | Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS63751155 | Health Risk | Conflicting classifications of pathogenicity | Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS63751168 | Health Risk | Conflicting classifications of pathogenicity | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome |
| RS63751173 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Lynch syndrome 1, Hereditary nonpolyposis colorectal neoplasms |
| RS63751207 | Health Risk | Conflicting classifications of pathogenicity | Lynch syndrome 1, Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63751224 | Health Risk | Conflicting classifications of pathogenicity | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Lynch syndrome |
| RS63751232 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Lynch syndrome 1, Hereditary cancer-predisposing syndrome |
| RS63751246 | Health Risk | Conflicting classifications of pathogenicity | Lynch syndrome, Hereditary cancer-predisposing syndrome, Lynch syndrome 1 |
| RS63751260 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Hereditary breast ovarian cancer syndrome |
| RS63751307 | Health Risk | Conflicting classifications of pathogenicity | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Lynch syndrome |
| RS63751403 | Health Risk | Conflicting classifications of pathogenicity | Lynch syndrome, Hereditary cancer-predisposing syndrome, Lynch syndrome 1 |
| RS63751412 | Health Risk | Conflicting classifications of pathogenicity | Lynch syndrome, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63751426 | Health Risk | Conflicting classifications of pathogenicity | Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms, Lynch-like syndrome |
| RS63751432 | Health Risk | Conflicting classifications of pathogenicity | Lynch syndrome 1, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63751454 | Health Risk | Conflicting classifications of pathogenicity | Lynch syndrome, Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS63751455 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Lynch syndrome 1, Hereditary nonpolyposis colorectal neoplasms |
| RS63751617 | Health Risk | Conflicting classifications of pathogenicity | Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS63751650 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Polyp of colon, Hereditary nonpolyposis colorectal neoplasms |
| RS63751668 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Carcinoma of colon |
| RS63751693 | Health Risk | Conflicting classifications of pathogenicity | Lynch syndrome, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS730881753 | Health Risk | Conflicting classifications of pathogenicity | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Lynch syndrome 1 |
| RS730881756 | Health Risk | Conflicting classifications of pathogenicity | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Lynch syndrome 1 |
| RS730881757 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome |
| RS730881759 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1 |
| RS730881760 | Health Risk | Conflicting classifications of pathogenicity | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Lynch syndrome |
| RS730881763 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1 |
| RS730881764 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome |
| RS730881766 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome |
| RS730881767 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome |
| RS730881768 | Health Risk | Conflicting classifications of pathogenicity | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Lynch syndrome 1 |
| RS730881770 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Muir-Torré syndrome |
| RS730881771 | Health Risk | Conflicting classifications of pathogenicity | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Lynch syndrome |
| RS730881772 | Health Risk | Conflicting classifications of pathogenicity | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Lynch syndrome |
| RS730881773 | Health Risk | Conflicting classifications of pathogenicity | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Lynch syndrome 1 |
| RS730881777 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1 |
| RS730881778 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome |
| RS730881779 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |