Variants
DYSF variants
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.
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 |
|---|---|---|---|---|---|
| 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 |
| A2105T | c.6313G>A | Exon 55 | 71,682,669 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.92-1496_239+950del | Intron 1 | 71,479,386 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.240-159_345+1237del | Intron 3 | 71,503,054 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.460+2T>G | Intron 5 | 71,511,923 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.759+1G>C | Intron 7 | 71,513,922 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.888+1G>A | Intron 8 | 71,515,752 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.991G>C | Exon 10 | 71,517,028 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1003-3C>A | Intron 10 | 71,520,175 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1033+1G>A | Intron 11 | 71,520,209 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1033+4A>T | Intron 11 | 71,520,212 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1033+5G>A | Intron 11 | 71,520,213 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1116C>A | Exon 12 | 71,520,871 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1149+1G>A | Intron 12 | 71,520,905 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1149+1G>C | Intron 12 | 71,520,905 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1149+4A>G | Intron 12 | 71,520,908 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1149+5G>A | Intron 12 | 71,520,909 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1276+5G>A | Intron 13 | 71,526,351 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1276+5G>C | Intron 13 | 71,526,351 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1450-1G>A | Intron 15 | 71,535,267 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1493+1_1493+2insT | Intron 16 | 71,535,312 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1577-1655C>G | Intron 17 | 71,549,386 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1577-1692G>A | Intron 17 | 71,549,349 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1693-6T>A | Intron 18 | 71,551,601 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1906G>C | Exon 20 | 71,553,110 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2217-2A>G | Intron 22 | 71,561,750 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2566-1_3227del | Intron 24 | 71,567,949 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2697+1G>A | Intron 25 | 71,568,083 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2697+1G>C | Intron 25 | 71,568,083 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2697+5G>A | Intron 25 | 71,568,087 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2864+1G>A | Intron 26 | 71,568,339 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2864+5G>A | Intron 26 | 71,568,343 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2865-2A>C | Intron 26 | 71,569,818 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2865-20T>G | Intron 26 | 71,569,800 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.3085+2T>C | Intron 28 | 71,570,336 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.3228+1G>C | Intron 29 | 71,570,742 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.3756+904_3897+150del | Intron 33 | 71,599,648 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.4911+1G>A | Intron 44 | 71,659,034 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.5003+1249G>T | Intron 45 | 71,661,900 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.5174+5G>A | Intron 46 | 71,664,443 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.5174+5G>T | Intron 46 | 71,664,443 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.5458-2A>C | Intron 48 | 71,668,752 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.5546+1G>T | Intron 49 | 71,668,843 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.5643-1G>A | Intron 50 | 71,669,604 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.5643-7T>G | Intron 50 | 71,669,598 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.5785-7G>A | Intron 51 | 71,674,190 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.5785-824C>T | Intron 51 | 71,673,373 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.5885-1G>C | Intron 52 | 71,679,056 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.5885-51_6063+50del | Intron 52 | 71,679,005 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.6064-1G>C | Intron 53 | 71,681,000 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| C488X | c.1464C>A | Exon 16 | 71,535,282 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C1174R | c.3520T>C | Exon 32 | 71,590,234 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C1717R | c.5149T>C | Exon 46 | 71,664,413 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C1717Y | c.5150G>A | Exon 46 | 71,664,414 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C1854F | c.5561G>T | Exon 50 | 71,669,126 | 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 |
| D320V | c.959A>T | Exon 10 | 71,516,996 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D422N | c.1264G>A | Exon 13 | 71,526,334 | 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 |
| D1876N | c.5626G>A | Exon 50 | 71,669,191 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E421K | c.1261G>A | Exon 13 | 71,526,331 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E782X | c.2344G>T | Exon 23 | 71,561,879 | 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 |
| E1353K | c.4057G>A | Exon 37 | 71,611,344 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E1472X | c.4414G>T | Exon 40 | 71,613,360 | 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 |
| E1805K | c.5413G>A | Exon 48 | 71,667,471 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E1993X | c.5977G>T | Exon 53 | 71,679,149 | 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 |
| G266E | c.797G>A | Exon 8 | 71,515,660 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G331R | c.991G>A | Exon 10 | 71,517,028 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G331W | c.991G>T | Exon 10 | 71,517,028 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G367A | c.1100G>C | Exon 12 | 71,520,855 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G367D | c.1100G>A | Exon 12 | 71,520,855 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G537R | c.1609G>A | Exon 18 | 71,551,073 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G636R | c.1906G>A | Exon 20 | 71,553,110 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G639R | c.1915G>A | Exon 20 | 71,553,119 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G1029R | c.3085G>C | Exon 28 | 71,570,334 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G1667V | c.5000G>T | Exon 45 | 71,660,648 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G1820R | c.5458G>A | Exon 49 | 71,668,754 | Likely 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 |
| G1904D | c.5711G>A | Exon 51 | 71,669,673 | Likely 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 |
| G2042D | c.6125G>A | Exon 54 | 71,681,062 | Likely 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 |
| H1896R | c.5687A>G | Exon 51 | 71,669,649 | 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 |