Variants
DSG2 variants
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.
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 |
|---|---|---|---|---|---|
| A753Lfs*15 | c.2257del | Exon 14 | 31,542,771 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| c.523+1_523+2del | Exon 5 | 31,521,243 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.523+1G>A | Intron 5 | 31,521,244 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.523+1G>T | Intron 5 | 31,521,244 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.523+2T>C | Intron 5 | 31,521,245 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1423+1G>T | Intron 10 | 31,535,413 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| C591X | c.1773_1774del | Exon 12 | 31,538,869 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D494A | c.1481A>C | Exon 11 | 31,536,259 | 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 |
| I845X | c.2533del | Exon 15 | 31,545,913 | 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 |
| R46Q | c.137G>A | Exon 3 | 31,519,858 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R49H | c.146G>A | Exon 3 | 31,519,867 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R119X | c.355C>T | Exon 4 | 31,520,941 | 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 |
| V975X | c.2923del | Exon 15 | 31,546,307 | 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 |
| W306X | c.918G>A | Exon 8 | 31,524,792 | 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 |