single nucleotide variant | NM_000244.3(MEN1):c.1323G>T (p.Trp441Cys) | MEN1 | Pathogenic/Likely pathogenic | 11 | 64572548 | 64572548 | C | A | criteria provided, multiple submitters, no conflicts | HGMD:CM053984 |
single nucleotide variant | NM_000244.3(MEN1):c.927+1G>A | MEN1 | Pathogenic | 11 | 64574482 | 64574482 | C | T | criteria provided, multiple submitters, no conflicts | HGMD:CS991449 |
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 | OMIM Allelic Variant:164761.0001,UniProtKB (protein):P07949#VAR_006310 |
single nucleotide variant | NM_020975.6(RET):c.1900T>G (p.Cys634Gly) | RET | Pathogenic | 10 | 43609948 | 43609948 | T | G | criteria provided, multiple submitters, no conflicts | OMIM Allelic Variant:164761.0003,UniProtKB (protein):P07949#VAR_006323 |
single nucleotide variant | NM_020975.6(RET):c.1901G>T (p.Cys634Phe) | RET | Pathogenic | 10 | 43609949 | 43609949 | G | T | criteria provided, single submitter | OMIM Allelic Variant:164761.0006,UniProtKB (protein):P07949#VAR_006324 |
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 | OMIM Allelic Variant:164761.0004,UniProtKB (protein):P07949#VAR_006325 |
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 | HGMD:CM941229,OMIM Allelic Variant:164761.0008,UniProtKB (protein):P07949#VAR_006313 |
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 Allelic Variant:164761.0009,UniProtKB (protein):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 | OMIM Allelic Variant:164761.0010,UniProtKB (protein):P07949#VAR_006319 |
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 | HGMD:CM930644,OMIM Allelic Variant:164761.0002,OMIM Allelic Variant:164761.0011,UniProtKB (protein):P07949#VAR_006326 |