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.1852T>G (p.Cys618Gly) | RET | Pathogenic | 10 | 43609096 | 43609096 | T | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA007995,UniProtKB:P07949#VAR_006310,OMIM:164761.0001 |
single nucleotide variant | NM_020975.6(RET):c.1852T>C (p.Cys618Arg) | RET | Pathogenic | 10 | 43609096 | 43609096 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA007985,UniProtKB:P07949#VAR_006311,OMIM:164761.0025 |
single nucleotide variant | NM_020975.6(RET):c.1852T>A (p.Cys618Ser) | RET | Pathogenic | 10 | 43609096 | 43609096 | T | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA007974,UniProtKB:P07949#VAR_006313 |
single nucleotide variant | NM_020975.6(RET):c.1853G>C (p.Cys618Ser) | RET | Pathogenic | 10 | 43609097 | 43609097 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA008013,UniProtKB:P07949#VAR_006313,OMIM:164761.0008 |
single nucleotide variant | NM_020975.6(RET):c.1853G>A (p.Cys618Tyr) | RET | Pathogenic | 10 | 43609097 | 43609097 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA008005,UniProtKB:P07949#VAR_006314 |
single nucleotide variant | NM_020975.6(RET):c.1853G>T (p.Cys618Phe) | RET | Pathogenic | 10 | 43609097 | 43609097 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA008022,UniProtKB:P07949#VAR_006312 |
single nucleotide variant | NM_020975.6(RET):c.1858T>C (p.Cys620Arg) | RET | Pathogenic | 10 | 43609102 | 43609102 | T | C | criteria provided, multiple submitters, no conflicts | OMIM:164761.0009,ClinGen:CA008055,UniProtKB:P07949#VAR_006316 |
single nucleotide variant | NM_020975.6(RET):c.1858T>G (p.Cys620Gly) | RET | Pathogenic | 10 | 43609102 | 43609102 | T | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA008066,UniProtKB:P07949#VAR_006315 |