Variants
MSH2 variants
The 540 MSH2 variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| A123Vfs*51 | c.368del | Exon 3 | 47,410,094 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A230Lfs*16 | c.687del | Exon 4 | 47,412,448 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A230Sfs*2 | c.687dup | Exon 4 | 47,412,448 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A266Qfs*8 | c.795del | Exon 5 | 47,414,269 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A370Qfs*3 | c.1108del | Exon 7 | 47,429,772 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A398Gfs*19 | c.1192dup | Exon 7 | 47,429,856 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A499Cfs*14 | c.1494dup | Exon 9 | 47,463,137 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A500Pfs*26 | c.1497del | Exon 9 | 47,463,140 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A573Pfs*17 | c.1717del | Exon 11 | 47,471,019 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A636P | c.1906G>C | Exon 12 | 47,475,171 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A765Vfs*47 | c.2294del | Exon 14 | 47,478,354 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A834Mfs*12 | c.2485_2498dup | Exon 15 | 47,480,720 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A844X | c.2529_2530del | Exon 15 | 47,480,762 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.212-1G>A | Intron 1 | 47,408,400 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.212-2A>G | Intron 1 | 47,408,399 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.212-478T>G | Intron 1 | 47,407,923 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.244A>T | Exon 2 | 47,408,433 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.366+1G>T | Intron 2 | 47,408,556 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.367-1G>A | Intron 2 | 47,410,093 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.367-392_646-534del | Intron 2 | 47,409,701 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.367-465_646-735del | Intron 2 | 47,409,628 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.367-480_645+644del | Intron 2 | 47,409,613 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.367-682_646-957del | Intron 2 | 47,409,411 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.388_389del | Exon 3 | 47,410,114 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.643C>T | Exon 3 | 47,410,370 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.645+1G>A | Intron 3 | 47,410,373 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.645+1G>T | Intron 3 | 47,410,373 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.646-2A>G | Intron 3 | 47,412,412 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.646-3T>G | Intron 3 | 47,412,411 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.646-5_652del | Intron 3 | 47,412,408 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.792+1G>A | Intron 4 | 47,412,561 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.792+8_943-450del | Intron 4 | 47,412,567 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.793-2A>C | Intron 4 | 47,414,267 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.793-6_942+450del | Intron 4 | 47,414,262 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.942+1G>T | Intron 5 | 47,414,419 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.942+2del | Intron 5 | 47,414,419 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.942+2T>G | Intron 5 | 47,414,420 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.942+3A>TIVS5+3A>T | Intron 5 | 47,414,421 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.942G>A | Exon 5 | 47,414,418 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.943-1G>A | Intron 5 | 47,416,295 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.943-1G>C | Intron 5 | 47,416,295 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.943-2A>G | Intron 5 | 47,416,294 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1035G>A | Exon 6 | 47,416,388 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1046_1047delinsGC | Exon 6 | 47,416,399 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1076+1G>A | Intron 6 | 47,416,430 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1076+1G>T | Intron 6 | 47,416,430 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1077-1G>C | Intron 6 | 47,429,741 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1077-1G>T | Intron 6 | 47,429,741 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1077-2A>C | Intron 6 | 47,429,740 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1077-2A>G | Intron 6 | 47,429,740 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1077-2A>T | Intron 6 | 47,429,740 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1077-228_1276+6237del | Intron 6 | 47,429,513 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1276+1G>A | Intron 7 | 47,429,942 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1276+1G>C | Intron 7 | 47,429,942 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1276+1G>T | Intron 7 | 47,429,942 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1276+2T>A | Intron 7 | 47,429,943 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1277-1G>A | Intron 7 | 47,445,547 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1277-1G>C | Intron 7 | 47,445,547 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1277-2A>C | Intron 7 | 47,445,546 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1277-2A>G | Intron 7 | 47,445,546 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1277-577_1386+2321del | Intron 7 | 47,444,970 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1277-4078_1386+1817del | Intron 7 | 47,441,469 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1386+1G>A | Intron 8 | 47,445,658 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1386+1G>C | Intron 8 | 47,445,658 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1386+1G>T | Intron 8 | 47,445,658 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1387-1G>T | Intron 8 | 47,463,030 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1387-9T>A | Intron 8 | 47,463,022 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1511-2A>G | Intron 9 | 47,466,656 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1661+1G>A | Intron 10 | 47,466,809 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1661+1G>T | Intron 10 | 47,466,809 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1662-1G>A | Intron 10 | 47,470,964 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1662-2A>G | Intron 10 | 47,470,963 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1662-374_2458+467del | Intron 10 | 47,470,590 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1759+1G>A | Intron 11 | 47,471,063 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1759+2T>A | Intron 11 | 47,471,064 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1759+2T>C | Intron 11 | 47,471,064 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1759+305_2006-34del | Intron 11 | 47,471,366 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1760-1del | Intron 11 | 47,475,023 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1760-1G>A | Intron 11 | 47,475,024 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1760-361_2634+838del | Intron 11 | 47,474,663 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2005+1_2005+11del | Exon 12 | 47,475,270 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2005+1G>A | Intron 12 | 47,475,271 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2005+1G>C | Intron 12 | 47,475,271 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2005+1G>T | Intron 12 | 47,475,271 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2005+2del | Intron 12 | 47,475,271 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2005+2T>C | Intron 12 | 47,475,272 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2006-1G>C | Intron 12 | 47,476,366 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2006-2A>G | Intron 12 | 47,476,365 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2210+1G>A | Intron 13 | 47,476,572 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2210+1G>C | Intron 13 | 47,476,572 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2210+111_2557del | Intron 13 | 47,476,681 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2211-1G>T | Intron 13 | 47,478,271 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2211-2A>C | Intron 13 | 47,478,270 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2211-2A>T | Intron 13 | 47,478,270 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2228_2231del | Exon 14 | 47,478,285 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2228C>G | Exon 14 | 47,478,289 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2251G>C | Exon 14 | 47,478,312 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2292G>A | Exon 14 | 47,478,353 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2458+1G>A | Intron 14 | 47,478,520 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2634+1G>A | Intron 15 | 47,480,872 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |