single nucleotide variant | NM_001927.4(DES):c.1024A>G (p.Asn342Asp) | DES | Pathogenic | 2 | 220286062 | 220286062 | A | G | criteria provided, single submitter | ClinGen:CA217001,UniProtKB:P17661#VAR_042453,OMIM:125660.0020 |
single nucleotide variant | NM_001927.4(DES):c.1069G>C (p.Ala357Pro) | DES | Pathogenic | 2 | 220286107 | 220286107 | G | C | criteria provided, single submitter | ClinGen:CA217007,UniProtKB:P17661#VAR_042456 |
Deletion | NM_001927.4(DES):c.1076_1084del (p.Glu359_Ser361del) | DES | Pathogenic | 2 | 220286107 | 220286115 | TGCCAGTGAG | T | criteria provided, single submitter | ClinGen:CA217009,OMIM:125660.0012 |
single nucleotide variant | NM_001927.4(DES):c.1109T>C (p.Leu370Pro) | DES | Pathogenic | 2 | 220286147 | 220286147 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA217018,UniProtKB:P17661#VAR_042457 |
single nucleotide variant | NM_001927.4(DES):c.1195G>T (p.Asp399Tyr) | DES | Likely pathogenic | 2 | 220286233 | 220286233 | G | T | criteria provided, single submitter | ClinGen:CA217032,UniProtKB:P17661#VAR_067210 |
single nucleotide variant | NM_001927.4(DES):c.1201G>A (p.Glu401Lys) | DES | Likely pathogenic | 2 | 220286239 | 220286239 | G | A | criteria provided, single submitter | ClinGen:CA284671,UniProtKB:P17661#VAR_067211 |
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 |
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.137C>A (p.Ser46Tyr) | DES | Likely pathogenic | 2 | 220283321 | 220283321 | C | A | criteria provided, single submitter | ClinGen:CA217053,UniProtKB:P17661#VAR_042450 |
single nucleotide variant | NM_001927.4(DES):c.347A>G (p.Asn116Ser) | DES | Pathogenic/Likely pathogenic | 2 | 220283531 | 220283531 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA217067,UniProtKB:P17661#VAR_069191 |