single nucleotide variant | NM_020975.6(RET):c.2370G>C (p.Leu790Phe) | RET | Pathogenic/Likely pathogenic | 10 | 43613906 | 43613906 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA008702,UniProtKB:P07949#VAR_009482,OMIM:164761.0033 |
single nucleotide variant | NM_020975.6(RET):c.1859G>C (p.Cys620Ser) | RET | Pathogenic | 10 | 43609103 | 43609103 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA008085,UniProtKB:P07949#VAR_006317,OMIM:164761.0041 |
single nucleotide variant | NM_020975.6(RET):c.1825T>C (p.Cys609Arg) | RET | Pathogenic | 10 | 43609069 | 43609069 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA007804,UniProtKB:P07949#VAR_009471,OMIM:164761.0042 |
single nucleotide variant | NM_020975.6(RET):c.2410G>A (p.Val804Met) | RET | Pathogenic/Likely pathogenic | 10 | 43614996 | 43614996 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA008751,UniProtKB:P07949#VAR_006337,OMIM:164761.0043,ClinVar:13945,ClinVar:618965 |
single nucleotide variant | NM_020975.6(RET):c.2410G>T (p.Val804Leu) | RET | Pathogenic | 10 | 43614996 | 43614996 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA008766,UniProtKB:P07949#VAR_006336,OMIM:164761.0044 |
single nucleotide variant | NM_020975.6(RET):c.1597G>T (p.Gly533Cys) | RET | Pathogenic | 10 | 43607621 | 43607621 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA007675,OMIM:164761.0048 |
single nucleotide variant | NM_020975.6(RET):c.2671T>G (p.Ser891Ala) | RET | Pathogenic | 10 | 43615592 | 43615592 | T | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA008989,UniProtKB:P07949#VAR_009486,OMIM:164761.0049 |
single nucleotide variant | NM_003000.3(SDHB):c.418G>T (p.Val140Phe) | SDHB | Pathogenic/Likely pathogenic | 1 | 17355100 | 17355100 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA015853,OMIM:185470.0016 |
single nucleotide variant | NM_003002.4(SDHD):c.284T>C (p.Leu95Pro) | SDHD | Pathogenic | 11 | 111959705 | 111959705 | T | C | criteria provided, single submitter | ClinGen:CA016647 |
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 |