Variants
DSC2 variants
The 11 DSC2 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.631-2A>G | Intron 5 | 31,087,815 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.943-1G>A | Intron 7 | 31,083,061 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2125+1del | Intron 13 | 31,071,603 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2250+2T>C | Intron 14 | 31,070,724 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| F708Hfs*14 | c.2112_2116del | Exon 13 | 31,071,613 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G12Sfs*18 | c.34_35del | Exon 1 | 31,101,936 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L294Yfs*10 | c.880del | Exon 7 | 31,086,637 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q158Rfs*16 | c.473del | Exon 4 | 31,091,028 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q620X | c.1858C>T | Exon 12 | 31,074,713 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R375X | c.1123C>T | Exon 9 | 31,082,378 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Y282X | c.846C>G | Exon 7 | 31,086,672 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |