single nucleotide variant | NM_020975.6(RET):c.1901G>A (p.Cys634Tyr) | RET | Pathogenic | 10 | 43609949 | 43609949 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA008348,UniProtKB:P07949#VAR_006325,OMIM:164761.0004 |
single nucleotide variant | NM_020975.6(RET):c.1901G>C (p.Cys634Ser) | RET | Pathogenic | 10 | 43609949 | 43609949 | G | C | criteria provided, multiple submitters, no conflicts | OMIM:164761.0005,ClinGen:CA008361,UniProtKB:P07949#VAR_006327 |
single nucleotide variant | NM_020975.6(RET):c.1901G>T (p.Cys634Phe) | RET | Pathogenic | 10 | 43609949 | 43609949 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA008370,UniProtKB:P07949#VAR_006324,OMIM:164761.0006 |
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.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.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.1859G>A (p.Cys620Tyr) | RET | Pathogenic | 10 | 43609103 | 43609103 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA008076,UniProtKB:P07949#VAR_006319,OMIM:164761.0010 |
single nucleotide variant | NM_020975.6(RET):c.1900T>C (p.Cys634Arg) | RET | Pathogenic | 10 | 43609948 | 43609948 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA008315,UniProtKB:P07949#VAR_006326,OMIM:164761.0002,OMIM:164761.0011,ClinVar:13906 |
single nucleotide variant | NM_020975.6(RET):c.1902C>G (p.Cys634Trp) | RET | Pathogenic | 10 | 43609950 | 43609950 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA008378,UniProtKB:P07949#VAR_006328,OMIM:164761.0012 |
single nucleotide variant | NM_020975.6(RET):c.2753T>C (p.Met918Thr) | RET | Pathogenic/Likely pathogenic | 10 | 43617416 | 43617416 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA009082,UniProtKB:P07949#VAR_006342,OMIM:164761.0013 |