Variants
DSP variants
The 78 DSP 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 |
|---|---|---|---|---|---|
| c.170+1G>A | Intron 1 | 7,542,086 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.273+1G>A | Intron 2 | 7,555,821 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.939+1G>A | Intron 7 | 7,565,521 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1574+1G>A | Intron 12 | 7,569,341 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2130+1G>A | Intron 15 | 7,572,069 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2298-2A>C | Intron 16 | 7,574,655 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2436+2T>C | Intron 17 | 7,574,797 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2437-1G>C | Intron 17 | 7,575,294 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| C2656Wfs*24 | c.7968_7972del | Exon 24 | 7,585,228 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D1248Kfs*7 | c.3735_3741dup | Exon 23 | 7,579,922 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E660Kfs*2 | c.1978_1979del | Exon 15 | 7,571,912 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E1081X | c.3241G>T | Exon 23 | 7,579,431 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E1213Dfs*2 | c.3639_3640del | Exon 23 | 7,579,825 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E1265X | c.3793G>T | Exon 23 | 7,579,983 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E1337Rfs*12 | c.4009del | Exon 23 | 7,580,197 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E1652Gfs*9 | c.4954dup | Exon 23 | 7,581,142 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E1776Gfs*4 | c.5327_5330del | Exon 23 | 7,581,510 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E1813Afs*4 | c.5438_5441del | Exon 24 | 7,582,695 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| F2416Lfs*14 | c.7248del | Exon 24 | 7,584,504 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G2133Vfs*2 | c.6393del | Exon 24 | 7,583,654 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G2319Sfs*5 | c.6954_6955del | Exon 24 | 7,584,211 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| K1310X | c.3928A>T | Exon 23 | 7,580,118 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| K1410Efs*29 | c.4228_4229del | Exon 23 | 7,580,416 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| K1527X | c.4579_4582del | Exon 23 | 7,580,764 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| K1626Rfs*19 | c.4875del | Exon 23 | 7,581,063 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| K1996Rfs*37 | c.5987del | Exon 24 | 7,583,247 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| K2356X | c.7066A>T | Exon 24 | 7,584,328 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| K2542Sfs*19 | c.7623del | Exon 24 | 7,584,883 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L354Afs*15 | c.1060_1061del | Exon 9 | 7,567,366 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L1709Hfs*24 | c.5126_5127del | Exon 23 | 7,581,311 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L2031Gfs*29 | c.6091_6092del | Exon 24 | 7,583,351 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L2405Qfs*24 | c.7214_7217del | Exon 24 | 7,584,473 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| N1346Tfs*3 | c.4037_4041del | Exon 23 | 7,580,224 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| N1865Efs*15 | c.5592dup | Exon 24 | 7,582,853 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q68X | c.202C>T | Exon 2 | 7,555,749 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q90X | c.268C>T | Exon 2 | 7,555,815 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q309X | c.925C>T | Exon 7 | 7,565,506 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q412X | c.1234C>T | Exon 10 | 7,567,874 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q633X | c.1897C>T | Exon 14 | 7,571,578 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q1286X | c.3856C>T | Exon 23 | 7,580,046 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q1289X | c.3865C>T | Exon 23 | 7,580,055 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q1311Pfs*13 | c.3932_3936del | Exon 23 | 7,580,120 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q1433X | c.4297C>T | Exon 23 | 7,580,487 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q1511X | c.4531C>T | Exon 23 | 7,580,721 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R105X | c.313C>T | Exon 3 | 7,558,155 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R150X | c.448C>T | Exon 4 | 7,559,251 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R160X | c.478C>T | Exon 4 | 7,559,281 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R425X | c.1273C>T | Exon 11 | 7,568,443 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R1045X | c.3133C>T | Exon 23 | 7,579,323 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R1247X | c.3739C>T | Exon 23 | 7,579,929 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R1267X | c.3799C>T | Exon 23 | 7,579,989 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R1269X | c.3805C>T | Exon 23 | 7,579,995 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R1400X | c.4198C>T | Exon 23 | 7,580,388 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R1458X | c.4372C>T | Exon 23 | 7,580,562 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R1628Ffs*17 | c.4882_4886delinsTTCT | Exon 23 | 7,581,072 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R1738X | c.5212C>T | Exon 23 | 7,581,402 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R1777Gfs*8 | c.5329_5330del | Exon 23 | 7,581,510 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R1934X | c.5800C>T | Exon 24 | 7,583,062 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R1951X | c.5851C>T | Exon 24 | 7,583,113 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R2160X | c.6478C>T | Exon 24 | 7,583,740 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R2284X | c.6850C>T | Exon 24 | 7,584,112 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R2334X | c.7000C>T | Exon 24 | 7,584,262 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R2366H | c.7097G>A | Exon 24 | 7,584,359 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S1462X | c.4384_4387del | Exon 23 | 7,580,572 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S1888Rfs*40 | c.5664_5667del | Exon 24 | 7,582,922 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S1894Lfs*34 | c.5680_5683del | Exon 24 | 7,582,940 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S2168Rfs*18 | c.6504_6507del | Exon 24 | 7,583,763 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S2406X | c.7217C>G | Exon 24 | 7,584,479 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S2591Rfs*11 | c.7773_7776del | Exon 24 | 7,585,028 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| T564I | c.1691C>T | Exon 13 | 7,570,553 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| T2104Qfs*12 | c.6310del | Exon 24 | 7,583,571 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| T2524Afs*36 | c.7570_7573del | Exon 24 | 7,584,829 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| T2634Yfs*10 | c.7899dup | Exon 24 | 7,585,159 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| W233X | c.699G>A | Exon 5 | 7,562,753 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| W360X | c.1080G>A | Exon 9 | 7,567,389 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| W2717Mfs*5 | c.8148dup | Exon 24 | 7,585,405 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Y1465X | c.4395T>G | Exon 23 | 7,580,585 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Y2547X | c.7641C>G | Exon 24 | 7,584,903 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |