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 |
|---|---|---|---|
| RS587779167 | Health Risk | Pathogenic | Lynch syndrome 1, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS587779170 | Health Risk | Pathogenic | Lynch syndrome, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colon cancer |
| RS587779172 | Health Risk | Pathogenic | Lynch syndrome, Lynch syndrome |
| RS587779173 | Health Risk | Pathogenic | Lynch syndrome, Lynch syndrome |
| RS587779174 | Health Risk | Pathogenic | Lynch syndrome, Lynch syndrome |
| RS587779175 | Health Risk | Pathogenic | Lynch syndrome, Lynch syndrome |
| RS587779176 | Health Risk | Pathogenic | Lynch syndrome, Lynch syndrome 1, Lynch syndrome |
| RS587779177 | Health Risk | Pathogenic | Lynch syndrome, Lynch syndrome |
| RS587779178 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1 |
| RS587779179 | Health Risk | Pathogenic | Lynch syndrome, Hereditary cancer-predisposing syndrome, Lynch syndrome |
| RS587779181 | Health Risk | Pathogenic | Lynch syndrome, Lynch syndrome |
| RS587779185 | Health Risk | Pathogenic | Lynch syndrome, Hereditary cancer-predisposing syndrome, Lynch syndrome 1 |
| RS587779188 | Health Risk | Pathogenic | Lynch syndrome, Lynch syndrome |
| RS587779189 | Health Risk | Pathogenic | Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome |
| RS587779190 | Health Risk | Pathogenic | Lynch syndrome, Hereditary cancer-predisposing syndrome, Lynch syndrome 1 |
| RS587779191 | Health Risk | Pathogenic | Lynch syndrome, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS587779192 | Health Risk | Pathogenic | Lynch syndrome, Hereditary cancer-predisposing syndrome, Lynch syndrome |
| RS587779193 | Health Risk | Pathogenic | Lynch syndrome, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS587779198 | Health Risk | Pathogenic | Lynch syndrome, Hereditary cancer-predisposing syndrome, Lynch syndrome 1 |
| RS587779964 | Health Risk | Pathogenic | Lynch syndrome 1, Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1 |
| RS587779966 | Health Risk | Pathogenic | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Lynch syndrome |
| RS587779973 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Lynch syndrome 1, Hereditary nonpolyposis colorectal neoplasms |
| RS587779979 | Health Risk | Pathogenic | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colon cancer |
| RS587782537 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1 |
| RS587782561 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Lynch syndrome 1, Hereditary nonpolyposis colon cancer |
| RS587782777 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS587783055 | Health Risk | Pathogenic | Lynch syndrome 1, Lynch syndrome 1 |
| RS63749802 | Health Risk | Pathogenic | Lynch syndrome, Hereditary cancer-predisposing syndrome, Lynch syndrome 1 |
| RS63749811 | Health Risk | Pathogenic | Lynch syndrome 1, Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63749814 | Health Risk | Pathogenic | Lynch syndrome, Lynch syndrome |
| RS63749831 | Health Risk | Pathogenic | Lynch syndrome 1, Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63749832 | Health Risk | Pathogenic | Lynch syndrome, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63749848 | Health Risk | Pathogenic | Lynch syndrome, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63749849 | Health Risk | Pathogenic | Lynch syndrome, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63749850 | Health Risk | Pathogenic | Lynch syndrome, Lynch syndrome |
| RS63749852 | Health Risk | Pathogenic | Lynch syndrome, Hereditary cancer-predisposing syndrome, Lynch syndrome 1 |
| RS63749872 | Health Risk | Pathogenic | Lynch syndrome, Lynch syndrome |
| RS63749878 | Health Risk | Pathogenic | Lynch syndrome, Lynch syndrome |
| RS63749897 | Health Risk | Pathogenic | Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS63749902 | Health Risk | Pathogenic | Lynch syndrome, Lynch syndrome 1, Lynch syndrome |
| RS63749912 | Health Risk | Pathogenic | Lynch syndrome 1, Lynch syndrome 1 |
| RS63749913 | Health Risk | Pathogenic | Lynch syndrome, Lynch syndrome |
| RS63749914 | Health Risk | Pathogenic | Lynch syndrome, Lynch syndrome 1, Hereditary nonpolyposis colorectal neoplasms |
| RS63749915 | Health Risk | Pathogenic | Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS63749917 | Health Risk | Pathogenic | Lynch syndrome, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63749920 | Health Risk | Pathogenic | Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS63749929 | Health Risk | Pathogenic | Lynch syndrome, Hereditary cancer-predisposing syndrome, Lynch syndrome |
| RS63749930 | Health Risk | Pathogenic | Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms, Carcinoma of colon |
| RS63749945 | Health Risk | Pathogenic | Lynch syndrome, Lynch syndrome |
| RS63749947 | Health Risk | Pathogenic | Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |