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 |
|---|---|---|---|
| RS2465698984 | Health Risk | Conflicting classifications of pathogenicity | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS2465871916 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS2528396616 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Lynch syndrome 1, Hereditary cancer-predisposing syndrome |
| RS2528640993 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS2528833324 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Muir-Torré syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS2528834212 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS2528949304 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS2528981772 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2529009203 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS2529037981 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS267607913 | Health Risk | Conflicting classifications of pathogenicity | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS267607914 | Health Risk | Conflicting classifications of pathogenicity | Lynch syndrome, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS267607930 | Health Risk | Conflicting classifications of pathogenicity | Lynch syndrome, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS267607935 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Lynch syndrome 1, Hereditary nonpolyposis colorectal neoplasms |
| RS267607947 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Lynch syndrome 1, Hereditary nonpolyposis colorectal neoplasms |
| RS267607954 | Health Risk | Conflicting classifications of pathogenicity | Lynch syndrome, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS267607956 | Health Risk | Conflicting classifications of pathogenicity | Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS267607960 | Health Risk | Conflicting classifications of pathogenicity | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS267607967 | Health Risk | Conflicting classifications of pathogenicity | Lynch syndrome 1, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS267607972 | Health Risk | Conflicting classifications of pathogenicity | Endometrial carcinoma, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS267607978 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS267607980 | Health Risk | Conflicting classifications of pathogenicity | Lynch syndrome 1, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS267607985 | Health Risk | Conflicting classifications of pathogenicity | Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS267607999 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS267608003 | Health Risk | Conflicting classifications of pathogenicity | Lynch syndrome 1, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS267608006 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1 |
| RS267608012 | Health Risk | Conflicting classifications of pathogenicity | Lynch syndrome, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS267608015 | Health Risk | Conflicting classifications of pathogenicity | Lynch syndrome 1, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS267608016 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Malignant tumor of breast |
| RS267608017 | Health Risk | Conflicting classifications of pathogenicity | Lynch syndrome, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS267608022 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome |
| RS34312619 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Lynch syndrome 1, Hereditary nonpolyposis colorectal neoplasms |
| RS34319539 | Health Risk | Conflicting classifications of pathogenicity | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Breast and/or ovarian cancer |
| RS35107951 | Health Risk | Conflicting classifications of pathogenicity | Lynch syndrome, Hereditary cancer-predisposing syndrome, Lynch syndrome 1 |
| RS35717997 | Health Risk | Conflicting classifications of pathogenicity | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Lynch syndrome |
| RS368270856 | Health Risk | Conflicting classifications of pathogenicity | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Lynch syndrome |
| RS368596736 | Health Risk | Conflicting classifications of pathogenicity | Lynch syndrome 1, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS368912987 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1 |
| RS368982417 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome |
| RS369385048 | Health Risk | Conflicting classifications of pathogenicity | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS369853630 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Lynch syndrome 1, Hereditary nonpolyposis colorectal neoplasms |
| RS370330868 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome |
| RS370378607 | Health Risk | Conflicting classifications of pathogenicity | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Lynch syndrome |
| RS370436680 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome |
| RS370675562 | Health Risk | Conflicting classifications of pathogenicity | Lynch syndrome 1, Hereditary cancer-predisposing syndrome, Endometrial carcinoma |
| RS370807334 | Health Risk | Conflicting classifications of pathogenicity | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, MSH2-related disorder |
| RS370906735 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1 |
| RS371614039 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Lynch syndrome 1, Hereditary nonpolyposis colorectal neoplasms |
| RS371718349 | Health Risk | Conflicting classifications of pathogenicity | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Lynch syndrome 1 |
| RS371776176 | Health Risk | Conflicting classifications of pathogenicity | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Lynch syndrome 1 |