Variants
MSH6 variants
The 274 MSH6 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 |
|---|---|---|---|---|---|
| A794Hfs*9 | c.2379_2380del | Exon 4 | 47,800,361 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A1055P | c.3163G>C | Exon 4 | 47,801,146 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A1236Efs*2 | c.3678_3706dup | Exon 8 | 47,806,234 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A1320Efs*6 | c.3959_3962del | Exon 9 | 47,806,605 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A1320Sfs*5 | c.3939_3957dup | Exon 9 | 47,806,588 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.3G>T | Exon 1 | 47,783,236 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.457+2T>A | Intron 2 | 47,791,125 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.458-1G>A | Intron 2 | 47,795,893 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.642C>G | Exon 4 | 47,798,625 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.652A>T | Exon 4 | 47,798,635 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1614_1615delinsG | Exon 4 | 47,799,597 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1634_1637del | Exon 4 | 47,799,615 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.3172+1G>T | Intron 4 | 47,801,156 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.3173-2_3173-1del | Intron 4 | 47,803,417 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.3173-446_3556+215del | Intron 4 | 47,802,973 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.3379_3438+5del | Exon 5 | 47,803,625 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.3438+1G>A | Intron 5 | 47,803,686 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.3439-1G>T | Intron 5 | 47,804,909 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.3439-2A>G | Intron 5 | 47,804,908 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.3644_3646+1del | Exon 7 | 47,805,704 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.3647-1G>A | Intron 7 | 47,806,203 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.3647-2A>C | Intron 7 | 47,806,202 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.3647-6_3647-1del | Intron 7 | 47,806,197 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.3795_3801+23del | Exon 8 | 47,806,351 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.4001+2T>C | Intron 9 | 47,806,653 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.4002-31_4002-8delinsTTAAAAAAAAAAAAAAAAAAGTTT | Intron 9 | 47,806,748 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| C426Vfs*27 | c.1276del | Exon 4 | 47,799,258 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C687X | c.2061T>A | Exon 4 | 47,800,044 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C783X | c.2348_2349del | Exon 4 | 47,800,329 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C1269Mfs*6 | c.3804dup | Exon 9 | 47,806,453 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C1275X | c.3821_3824dup | Exon 9 | 47,806,466 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D284Gfs*2 | c.845dup | Exon 4 | 47,798,827 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D380Afs*6 | c.1139_1143del | Exon 4 | 47,799,118 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D857Ffs*10 | c.2569_2572del | Exon 4 | 47,800,548 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D1058H | c.3172G>C | Exon 4 | 47,801,155 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D1107Vfs*8 | c.3320del | Exon 5 | 47,803,566 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D1171Efs*5 | c.3513_3514del | Exon 6 | 47,804,982 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D1171X | c.3511_3512del | Exon 6 | 47,804,981 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D1213Gfs*2 | c.3635dup | Exon 7 | 47,805,695 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E272X | c.814G>T | Exon 4 | 47,798,797 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E493X | c.1477G>T | Exon 4 | 47,799,460 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E533X | c.1596dup | Exon 4 | 47,799,578 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E546Gfs*16 | c.1637_1638del | Exon 4 | 47,799,617 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E604Lfs*5 | c.1806_1809del | Exon 4 | 47,799,788 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E846X | c.2535dup | Exon 4 | 47,800,517 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E993Nfs*4 | c.2976del | Exon 4 | 47,800,957 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E995Gfs*2 | c.2984del | Exon 4 | 47,800,966 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E995X | c.2983G>T | Exon 4 | 47,800,966 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E1023X | c.3067G>T | Exon 4 | 47,801,050 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E1052Vfs*13 | c.3155_3156del | Exon 4 | 47,801,135 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E1090Kfs*23 | c.3268_3274del | Exon 5 | 47,803,510 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E1090Rfs*3 | c.3263dup | Exon 5 | 47,803,508 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E1119X | c.3355G>T | Exon 5 | 47,803,602 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E1123X | c.3367G>T | Exon 5 | 47,803,614 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E1163X | c.3487G>T | Exon 6 | 47,804,958 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E1281Lfs*44 | c.3840_3846del | Exon 9 | 47,806,489 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E1310Ifs*20 | c.3920_3927dup | Exon 9 | 47,806,568 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| F706S | c.2117T>C | Exon 4 | 47,800,100 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| F1040X | c.3119_3120del | Exon 4 | 47,801,100 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| F1088Lfs*5 | c.3261dup | Exon 5 | 47,803,500 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| F1088Sfs*2 | c.3261del | Exon 5 | 47,803,500 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| F1104Lfs*11 | c.3312del | Exon 5 | 47,803,552 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| F1104Wfs*3 | c.3311_3312del | Exon 5 | 47,803,552 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| F1174Ifs*3 | c.3519_3520insA | Exon 6 | 47,804,990 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| F1245Ifs*31 | c.3729_3732dup | Exon 8 | 47,806,285 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| F1323Lfs*14 | c.3969_3979del | Exon 9 | 47,806,618 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G237Dfs*9 | c.710del | Exon 4 | 47,798,691 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G624Afs*11 | c.1869del | Exon 4 | 47,799,849 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G685X | c.2050_2051dup | Exon 4 | 47,800,030 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G686D | c.2057G>A | Exon 4 | 47,800,040 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| H367Qfs*4 | c.1101del | Exon 4 | 47,799,083 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| H367R | c.1100A>G | Exon 4 | 47,799,083 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| H1203Qfs*12 | c.3609_3612del | Exon 7 | 47,805,663 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| I745N | c.2234T>A | Exon 4 | 47,800,217 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| I872Nfs*10 | c.2611_2614dup | Exon 4 | 47,800,592 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| I891Tfs*8 | c.2672_2674delinsC | Exon 4 | 47,800,655 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| I1109Yfs*3 | c.3324dup | Exon 5 | 47,803,567 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| I1115Nfs*4 | c.3341_3342insC | Exon 5 | 47,803,588 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| I1313Sfs*7 | c.3932_3935dup | Exon 9 | 47,806,581 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| K218X | c.651dup | Exon 4 | 47,798,633 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| K247X | c.738_739insT | Exon 4 | 47,798,721 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| K543Rfs*19 | c.1628_1629del | Exon 4 | 47,799,609 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| K545Rfs*25 | c.1632_1635del | Exon 4 | 47,799,613 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| K1092X | c.3273dup | Exon 5 | 47,803,518 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| K1233Nfs*6 | c.3699_3702del | Exon 8 | 47,806,253 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| K1296Mfs*29 | c.3887_3893del | Exon 9 | 47,806,533 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L449P | c.1346T>C | Exon 4 | 47,799,329 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L527Rfs*44 | c.1580del | Exon 4 | 47,799,562 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L540del | c.1618_1620del | Exon 4 | 47,799,596 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L595Yfs*15 | c.1784del | Exon 4 | 47,799,763 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L634X | c.1901_1902del | Exon 4 | 47,799,883 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L905X | c.2714T>A | Exon 4 | 47,800,697 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L951Ifs*12 | c.2851_2858del | Exon 4 | 47,800,833 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L1018Hfs*4 | c.3053_3054del | Exon 4 | 47,801,033 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L1061Rfs*18 | c.3182del | Exon 5 | 47,803,428 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L1063R | c.3188T>G | Exon 5 | 47,803,435 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L1211P | c.3632T>C | Exon 7 | 47,805,693 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L1330Vfs*12 | c.3984_3987dup | Exon 9 | 47,806,630 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| M654Sfs*8 | c.1957_1960dup | Exon 4 | 47,799,939 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| M1074Sfs*5 | c.3221del | Exon 5 | 47,803,467 | Pathogenic | 3 stars out of 4 reviewed by expert panel |