Variants
MLH1 variants
The 616 MLH1 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 |
|---|---|---|---|---|---|
| A21E | c.62C>A | Exon 1 | 36,993,609 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A21Rfs*15 | c.61del | Exon 1 | 36,993,606 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A21V | c.62C>T | Exon 1 | 36,993,609 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A29G | c.86C>G | Exon 1 | 36,993,633 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A29Lfs*7 | c.84del | Exon 1 | 36,993,630 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A111V | c.332C>T | Exon 4 | 37,004,426 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A125Ifs*15 | c.372_373del | Exon 4 | 37,004,462 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A128P | c.382G>C | Exon 5 | 37,006,992 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A128Qfs*8 | c.382del | Exon 5 | 37,006,991 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A128Sfs*6 | c.382_402delinsT | Exon 5 | 37,006,992 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A249Gfs*58 | c.745dup | Exon 9 | 37,014,498 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A281V | c.842C>T | Exon 10 | 37,017,557 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A541Dfs*50 | c.1622del | Exon 14 | 37,040,248 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A589D | c.1766C>A | Exon 16 | 37,047,553 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A589Pfs*2 | c.1764del | Exon 16 | 37,047,549 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A608Cfs*2 | c.1821dup | Exon 16 | 37,047,606 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A619Lfs*18 | c.1855del | Exon 16 | 37,047,640 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A619P | c.1855G>C | Exon 16 | 37,047,642 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A623Qfs*14 | c.1866del | Exon 16 | 37,047,651 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A681T | c.2041G>A | Exon 18 | 37,048,955 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.-384_207+603del | 36,993,163 | Pathogenic | 3 stars out of 4 reviewed by expert panel | ||
| c.1A>G | Exon 1 | 36,993,548 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2T>A | Exon 1 | 36,993,549 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2T>C | Exon 1 | 36,993,549 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2T>G | Exon 1 | 36,993,549 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.3G>A | Exon 1 | 36,993,550 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.19_35del | Exon 1 | 36,993,565 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.114C>A | Exon 1 | 36,993,661 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.116+1G>A | Intron 1 | 36,993,664 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.116+5G>C | Intron 1 | 36,993,668 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.117-1G>T | Intron 1 | 36,996,618 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.117-2A>G | Intron 1 | 36,996,617 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.117-691_306+1011del | Intron 1 | 36,995,927 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.207+1_207+2del | Exon 2 | 36,996,709 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.207+1G>A | Intron 2 | 36,996,710 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.207+1G>T | Intron 2 | 36,996,710 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.207+2T>C | Intron 2 | 36,996,711 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.208-1G>A | Intron 2 | 37,000,954 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.208-2_208-1del | Intron 2 | 37,000,952 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.208-2_209del | Intron 2 | 37,000,952 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.208-2A>G | Intron 2 | 37,000,953 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.208-3C>G | Intron 2 | 37,000,952 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.208-1714_306+641delinsACATAGTA | Intron 2 | 36,999,241 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.306+1_306+2insT | Intron 3 | 37,001,054 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.306+1G>A | Intron 3 | 37,001,054 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.306+5G>A | Intron 3 | 37,001,058 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.307-1G>C | Intron 3 | 37,004,400 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.307-2A>C | Intron 3 | 37,004,399 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.307-245_454-365del | Intron 3 | 37,004,155 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.307-812_677+1046del | Intron 3 | 37,003,588 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.307-820_380+896del | Intron 3 | 37,003,580 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.307-1420_380+624del | Intron 3 | 37,002,980 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.378del | Exon 4 | 37,004,471 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.380+1G>A | Intron 4 | 37,004,475 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.380+2T>A | Intron 4 | 37,004,476 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.380+2T>C | Intron 4 | 37,004,476 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.381-2A>G | Intron 4 | 37,006,989 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.381-431_453+717del | Intron 4 | 37,006,559 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.453+1G>T | Intron 5 | 37,007,064 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.453+2T>C | Intron 5 | 37,007,065 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.454-1G>A | Intron 5 | 37,008,813 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.454-1G>T | Intron 5 | 37,008,813 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.454-2A>G | Intron 5 | 37,008,812 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.454-13A>G | Intron 5 | 37,008,801 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.454-465_546-1063del | Intron 5 | 37,008,348 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.454-466_546-1062del | Intron 5 | 37,008,347 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.454-505_546-1102del | Intron 5 | 37,008,308 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.454-665_545+49del | Intron 5 | 37,008,148 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.497del | Exon 6 | 37,008,854 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.543C>G | Exon 6 | 37,008,903 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.543C>T | Exon 6 | 37,008,903 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.545+1G>A | Intron 6 | 37,008,906 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.545+3A>G | Intron 6 | 37,008,908 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.546-1G>A | Intron 6 | 37,011,819 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.546-2A>C | Intron 6 | 37,011,818 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.546-2A>G | Intron 6 | 37,011,818 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.546-361_885-811del | Intron 6 | 37,011,458 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.588+1del | Exon 7 | 37,011,862 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.588+1G>T | Intron 7 | 37,011,863 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.588+2T>A | Intron 7 | 37,011,864 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.588+5G>A | Intron 7 | 37,011,867 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.589-1G>T | Intron 7 | 37,012,010 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.589-2A>G | Intron 7 | 37,012,009 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.677_677+1delinsAT | Exon 8 | 37,012,099 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.677_677+1insT | Exon 8 | 37,012,099 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.677+1G>A | Intron 8 | 37,012,100 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.677+1G>T | Intron 8 | 37,012,100 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.677+3A>G | Intron 8 | 37,012,102 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.678-1G>C | Intron 8 | 37,014,431 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.678-1G>T | Intron 8 | 37,014,431 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.678-2A>G | Intron 8 | 37,014,430 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.678-4_678-3del | Intron 8 | 37,014,427 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.678-11_691del | Intron 8 | 37,014,420 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.790+1_790+2insT | Intron 9 | 37,014,545 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.790+1del | Exon 9 | 37,014,544 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.790+1G>A | Intron 9 | 37,014,545 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.790+1G>C | Intron 9 | 37,014,545 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.790+2T>A | Intron 9 | 37,014,546 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.790+2T>C | Intron 9 | 37,014,546 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.790+5G>T | Intron 9 | 37,014,549 | Pathogenic | 3 stars out of 4 reviewed by expert panel |