Indel | NM_020975.6(RET):c.1832_1833delinsAT (p.Cys611Tyr) | RET | Pathogenic | 10 | 43609076 | 43609077 | GC | AT | criteria provided, single submitter | - |
single nucleotide variant | NM_020975.6(RET):c.1833C>G (p.Cys611Trp) | RET | Pathogenic | 10 | 43609077 | 43609077 | C | G | criteria provided, single submitter | ClinGen:CA007954,UniProtKB:P07949#VAR_006308,OMIM:164761.0007 |
single nucleotide variant | NM_020975.6(RET):c.1832G>T (p.Cys611Phe) | RET | Pathogenic | 10 | 43609076 | 43609076 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA007949 |
single nucleotide variant | NM_020975.6(RET):c.1832G>A (p.Cys611Tyr) | RET | Pathogenic | 10 | 43609076 | 43609076 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA007934,UniProtKB:P07949#VAR_006309 |
single nucleotide variant | NM_020975.6(RET):c.1831T>A (p.Cys611Ser) | RET | Pathogenic | 10 | 43609075 | 43609075 | T | A | criteria provided, single submitter | UniProtKB:P07949#VAR_009474 |
single nucleotide variant | NM_020975.6(RET):c.1831T>G (p.Cys611Gly) | RET | Pathogenic | 10 | 43609075 | 43609075 | T | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA007883,UniProtKB:P07949#VAR_009472 |
single nucleotide variant | NM_020975.6(RET):c.1831T>C (p.Cys611Arg) | RET | Likely pathogenic | 10 | 43609075 | 43609075 | T | C | criteria provided, single submitter | ClinGen:CA007873,UniProtKB:P07949#VAR_009473 |
single nucleotide variant | NM_020975.6(RET):c.1827C>G (p.Cys609Trp) | RET | Pathogenic | 10 | 43609071 | 43609071 | C | G | criteria provided, single submitter | UniProtKB:P07949#VAR_006307 |
single nucleotide variant | NM_020975.6(RET):c.1826G>C (p.Cys609Ser) | RET | Pathogenic | 10 | 43609070 | 43609070 | G | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_020975.6(RET):c.1826G>T (p.Cys609Phe) | RET | Pathogenic | 10 | 43609070 | 43609070 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA007843 |