Variants
DYSF variants
Predicted effect: Frameshift. 41 of the 191 DYSF variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| A116Pfs*36 | c.345del | Exon 4 | 71,503,316 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A945Lfs*21 | c.2833del | Exon 26 | 71,568,304 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D320Efs*40 | c.959dup | Exon 10 | 71,516,995 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D497Rfs*9 | c.1488dup | Exon 16 | 71,535,305 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D1181Pfs*11 | c.3540_3541del | Exon 32 | 71,590,252 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D1255Tfs*24 | c.3762del | Exon 34 | 71,600,706 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E1143Kfs*9 | c.3427del | Exon 31 | 71,589,616 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E1287Gfs*7 | c.3859dup | Exon 34 | 71,600,799 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E1576Kfs*5 | c.4726del | Exon 43 | 71,656,260 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E1663Dfs*10 | c.4989del | Exon 45 | 71,660,636 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E1766Dfs*7 | c.5298del | Exon 47 | 71,665,283 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E2033Rfs*3 | c.6096dup | Exon 54 | 71,681,032 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| F299Lfs*5 | c.895_896del | Exon 9 | 71,516,183 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| F451Lfs*41 | c.1350del | Exon 14 | 71,528,367 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| F532Gfs*57 | c.1589_1592dup | Exon 18 | 71,551,052 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| F1128Cfs*3 | c.3381_3382del | Exon 30 | 71,574,346 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| F1538Lfs*4 | c.4614del | Exon 42 | 71,644,047 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| F1713Lfs*48 | c.5139del | Exon 46 | 71,664,400 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G210Efs*49 | c.629del | Exon 7 | 71,513,789 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G1904Afs*101 | c.5711del | Exon 51 | 71,669,671 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G2006Afs*6 | c.6017del | Exon 53 | 71,679,186 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| H711Tfs*4 | c.2131del | Exon 22 | 71,555,984 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| I1036Hfs*14 | c.3105dup | Exon 29 | 71,570,616 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| K37Sfs*12 | c.110_111del | Exon 2 | 71,480,899 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| K459Efs*47 | c.1374dup | Exon 14 | 71,528,391 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| K921Qfs*4 | c.2760dup | Exon 26 | 71,568,230 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| K1187Qfs*6 | c.3558dup | Exon 32 | 71,590,271 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L668Yfs*6 | c.2002del | Exon 21 | 71,553,822 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L1092Ffs*39 | c.3274_3275del | Exon 30 | 71,574,238 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| M426Sfs*10 | c.1276_1277insGTGCTTGCCGCAGA | Exon 13 | 71,526,335 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| M426Sfs*20 | c.1276_1277insGTGCAGA | Exon 13 | 71,526,341 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| M491Nfs*15 | c.1471dup | Exon 16 | 71,535,283 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| N44Efs*6 | c.128dup | Exon 2 | 71,480,918 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q1985Wfs*19 | c.5953_5956del | Exon 53 | 71,679,123 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R1759Lfs*2 | c.5276del | Exon 47 | 71,665,262 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| S390Lfs*17 | c.1167del | Exon 13 | 71,526,233 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| S1191Ffs*2 | c.3571dup | Exon 32 | 71,590,280 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| S1282Vfs*9 | c.3844_3851del | Exon 34 | 71,600,787 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| S1939Qfs*14 | c.5815_5816del | Exon 52 | 71,674,223 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| T851Sfs*3 | c.2550_2553del | Exon 24 | 71,564,194 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| V318Wfs*2 | c.951del | Exon 9 | 71,516,241 | Pathogenic | 3 stars out of 4 reviewed by expert panel |