Variants
DSG2 variants
Predicted effect: Frameshift. 18 of the 31 DSG2 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 |
|---|---|---|---|---|---|
| A753Lfs*15 | c.2257del | Exon 14 | 31,542,771 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D794Pfs*16 | c.2375_2379dup | Exon 15 | 31,545,760 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E1018Gfs*20 | c.3052dup | Exon 15 | 31,546,435 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E1020Afs*18 | c.3059_3062del | Exon 15 | 31,546,440 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G166Wfs*4 | c.495dup | Exon 5 | 31,521,213 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G997Vfs*20 | c.2990del | Exon 15 | 31,546,371 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| I851Lfs*13 | c.2551del | Exon 15 | 31,545,934 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L171Cfs*16 | c.512_516del | Exon 5 | 31,521,227 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L610Pfs*50 | c.1826dup | Exon 12 | 31,538,922 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| N462Mfs*6 | c.1385del | Exon 10 | 31,535,370 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| T217Nfs*51 | c.649dup | Exon 6 | 31,522,207 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| T291Nfs*10 | c.871dup | Exon 8 | 31,524,744 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| T874Lfs*29 | c.2620del | Exon 15 | 31,546,003 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| V271Ifs*4 | c.803_810dup | Exon 7 | 31,524,559 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| V295Sfs*6 | c.882dup | Exon 8 | 31,524,752 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| V440Gfs*6 | c.1319_1320del | Exon 10 | 31,535,305 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| V986Wfs*6 | c.2955del | Exon 15 | 31,546,339 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Y940Mfs*12 | c.2817del | Exon 15 | 31,546,201 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |