Variants
DES variants
The 26 DES 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.1A>G | Exon 1 | 219,418,463 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.735+1G>A | Intron 3 | 219,420,347 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.735+1G>C | Intron 3 | 219,420,347 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.735+3A>G | Intron 3 | 219,420,349 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1288+1G>A | Intron 7 | 219,423,821 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| E108X | c.322G>T | Exon 1 | 219,418,784 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E245D | c.735G>C | Exon 3 | 219,420,346 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G456R | c.1366G>A | Exon 8 | 219,425,740 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| H384R | c.1151A>G | Exon 6 | 219,421,467 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| K449T | c.1346A>C | Exon 8 | 219,425,720 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L345P | c.1034T>C | Exon 6 | 219,421,350 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L377P | c.1130T>C | Exon 6 | 219,421,446 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| N116S | c.347A>G | Exon 1 | 219,418,809 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| P419S | c.1255C>T | Exon 7 | 219,423,787 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q55X | c.163C>T | Exon 1 | 219,418,625 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q329X | c.985C>T | Exon 5 | 219,420,915 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R212X | c.634C>T | Exon 2 | 219,420,150 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R350P | c.1049G>C | Exon 6 | 219,421,365 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R355P | c.1064G>C | Exon 6 | 219,421,380 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R406W | c.1216C>T | Exon 6 | 219,421,532 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R429X | c.1285C>T | Exon 7 | 219,423,817 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R454W | c.1360C>T | Exon 8 | 219,425,734 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S12F | c.35C>T | Exon 1 | 219,418,497 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S13F | c.38C>T | Exon 1 | 219,418,500 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| T76Pfs*22 | c.226del | Exon 1 | 219,418,687 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| W295X | c.885G>A | Exon 4 | 219,420,644 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |