single nucleotide variant | NM_001927.4(DES):c.1412A>C (p.Ter471Ser) | DES | Likely pathogenic | 2 | 220290711 | 220290711 | A | C | criteria provided, single submitter | ClinGen:CA308298 |
single nucleotide variant | NM_001927.4(DES):c.1371+1G>C | DES | Likely pathogenic | 2 | 220290468 | 220290468 | G | C | criteria provided, single submitter | ClinGen:CA308297 |
single nucleotide variant | NM_001927.4(DES):c.1346A>C (p.Lys449Thr) | DES | Pathogenic/Likely pathogenic | 2 | 220290442 | 220290442 | A | C | criteria provided, multiple submitters, no conflicts | UniProtKB:P17661#VAR_042461,ClinGen:CA217038 |
single nucleotide variant | NM_001927.4(DES):c.1325C>T (p.Thr442Ile) | DES | Pathogenic | 2 | 220290421 | 220290421 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA217036,UniProtKB:P17661#VAR_042459,OMIM:125660.0015 |
single nucleotide variant | NM_001927.4(DES):c.1289-2A>G | DES | Pathogenic/Likely pathogenic | 2 | 220290383 | 220290383 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA144512,OMIM:125660.0018 |
single nucleotide variant | NM_001927.4(DES):c.1285C>T (p.Arg429Ter) | DES | Pathogenic/Likely pathogenic | 2 | 220288539 | 220288539 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA273504 |
single nucleotide variant | NM_001927.4(DES):c.1255C>T (p.Pro419Ser) | DES | Pathogenic/Likely pathogenic | 2 | 220288509 | 220288509 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA217034,UniProtKB:P17661#VAR_069074,OMIM:125660.0017 |
Deletion | NM_001927.4(DES):c.1255_1271del (p.Pro419fs) | DES | Pathogenic | 2 | 220288506 | 220288522 | TCTCCCCATCCAGACCTA | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA658796176 |
single nucleotide variant | NM_001927.4(DES):c.1237G>T (p.Glu413Ter) | DES | Pathogenic | 2 | 220286275 | 220286275 | G | T | criteria provided, single submitter | - |
single nucleotide variant | NM_001927.4(DES):c.1237G>A (p.Glu413Lys) | DES | Pathogenic/Likely pathogenic | 2 | 220286275 | 220286275 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA284673 |