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 |
|---|---|---|---|
| RS1558459273 | Health Risk | Conflicting classifications of pathogenicity | Lynch syndrome, Hereditary cancer-predisposing syndrome, Lynch syndrome |
| RS1558459684 | Health Risk | Conflicting classifications of pathogenicity | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Lynch syndrome |
| RS1558459826 | Health Risk | Conflicting classifications of pathogenicity | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1558462016 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1558464271 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1558464315 | Health Risk | Conflicting classifications of pathogenicity | Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS1558464351 | Health Risk | Conflicting classifications of pathogenicity | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1558466437 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1558478062 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Lynch syndrome 1, Hereditary nonpolyposis colorectal neoplasms |
| RS1558493602 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Lynch syndrome 1, Hereditary nonpolyposis colorectal neoplasms |
| RS1558508137 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1558510749 | Health Risk | Conflicting classifications of pathogenicity | Lynch syndrome, Lynch syndrome 1, Lynch syndrome |
| RS1558511106 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Lynch syndrome 1, Lynch syndrome |
| RS1558511163 | Health Risk | Conflicting classifications of pathogenicity | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Lynch syndrome 1 |
| RS1558514428 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1 |
| RS1558514500 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS1558517928 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1558518671 | Health Risk | Conflicting classifications of pathogenicity | Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1, Hereditary nonpolyposis colorectal neoplasms |
| RS1558519942 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1558521842 | Health Risk | Conflicting classifications of pathogenicity | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Muir-Torré syndrome |
| RS1558524059 | Health Risk | Conflicting classifications of pathogenicity | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1558526023 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1558526026 | Health Risk | Conflicting classifications of pathogenicity | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Lynch syndrome |
| RS1558526036 | Health Risk | Conflicting classifications of pathogenicity | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1558526293 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1 |
| RS1573422612 | Health Risk | Conflicting classifications of pathogenicity | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1573422744 | Health Risk | Conflicting classifications of pathogenicity | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1573423213 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1573436092 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1573436408 | Health Risk | Conflicting classifications of pathogenicity | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1573436418 | Health Risk | Conflicting classifications of pathogenicity | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Lynch syndrome 1 |
| RS1573436461 | Health Risk | Conflicting classifications of pathogenicity | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Lynch syndrome |
| RS1573436801 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1573440435 | Health Risk | Conflicting classifications of pathogenicity | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1573440792 | Health Risk | Conflicting classifications of pathogenicity | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1573441348 | Health Risk | Conflicting classifications of pathogenicity | Lynch syndrome 1, Lynch syndrome 1 |
| RS1573441851 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1573451658 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1573484275 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Lynch syndrome, Lynch syndrome 1 |
| RS1573485191 | Health Risk | Conflicting classifications of pathogenicity | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1573553312 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1573553370 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1573560689 | Health Risk | Conflicting classifications of pathogenicity | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1573567393 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1573567600 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1573569964 | Health Risk | Conflicting classifications of pathogenicity | Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS1573570391 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1 |
| RS1573570754 | Health Risk | Conflicting classifications of pathogenicity | Hereditary nonpolyposis colorectal neoplasms, Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS1573574512 | Health Risk | Conflicting classifications of pathogenicity | Hereditary nonpolyposis colorectal neoplasms, Malignant tumor of breast, Hereditary cancer-predisposing syndrome |
| RS1573578366 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |