single nucleotide variant | NM_001927.4(DES):c.735+1G>A | DES | Pathogenic/Likely pathogenic | 2 | 220285069 | 220285069 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA261522 |
single nucleotide variant | NM_001927.4(DES):c.735G>C (p.Glu245Asp) | DES | Pathogenic/Likely pathogenic | 2 | 220285068 | 220285068 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA217085,UniProtKB:P17661#VAR_042452 |
single nucleotide variant | NM_001927.4(DES):c.634C>T (p.Arg212Ter) | DES | Pathogenic/Likely pathogenic | 2 | 220284872 | 220284872 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA308316 |
single nucleotide variant | NM_001927.4(DES):c.514C>T (p.Gln172Ter) | DES | Pathogenic | 2 | 220283698 | 220283698 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_001927.4(DES):c.394C>T (p.Gln132Ter) | DES | Pathogenic | 2 | 220283578 | 220283578 | C | T | criteria provided, single submitter | ClinGen:CA16610670 |
single nucleotide variant | NM_001927.4(DES):c.373A>T (p.Lys125Ter) | DES | Pathogenic | 2 | 220283557 | 220283557 | A | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10604977 |
single nucleotide variant | NM_001927.4(DES):c.364T>G (p.Tyr122Asp) | DES | Likely pathogenic | 2 | 220283548 | 220283548 | T | G | criteria provided, single submitter | ClinGen:CA308313 |
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 |
Deletion | NM_001927.4(DES):c.226del (p.Thr76fs) | DES | Pathogenic | 2 | 220283410 | 220283410 | GA | G | criteria provided, multiple submitters, no conflicts | - |
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 |