single nucleotide variant | NM_001370259.2(MEN1):c.1350+1G>A | MEN1 | Pathogenic | 11 | 64572505 | 64572505 | C | T | criteria provided, single submitter | ClinGen:CA278894,OMIM:613733.0031 |
single nucleotide variant | NM_001370259.2(MEN1):c.824+1G>A | MEN1 | Pathogenic | 11 | 64574650 | 64574650 | C | T | criteria provided, single submitter | OMIM:613733.0034 |
single nucleotide variant | NM_020975.6(RET):c.1817A>G (p.Tyr606Cys) | RET | Likely pathogenic | 10 | 43609061 | 43609061 | A | G | criteria provided, single submitter | ClinGen:CA007781 |
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.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.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.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.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.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 |