single nucleotide variant | NM_003242.6(TGFBR2):c.1276G>A (p.Ala426Thr) | TGFBR2 | Pathogenic | 3 | 30715618 | 30715618 | G | A | criteria provided, single submitter | ClinGen:CA321583 |
single nucleotide variant | NM_003242.6(TGFBR2):c.1277C>A (p.Ala426Asp) | TGFBR2 | Pathogenic | 3 | 30715619 | 30715619 | C | A | criteria provided, single submitter | ClinGen:CA323900 |
single nucleotide variant | NM_003242.6(TGFBR2):c.1279C>T (p.Pro427Ser) | TGFBR2 | Likely pathogenic | 3 | 30715621 | 30715621 | C | T | criteria provided, single submitter | ClinGen:CA319801 |
single nucleotide variant | NM_003242.6(TGFBR2):c.1336G>A (p.Asp446Asn) | TGFBR2 | Pathogenic/Likely pathogenic | 3 | 30715678 | 30715678 | G | A | criteria provided, multiple submitters, no conflicts | UniProtKB:P37173#VAR_066725,ClinGen:CA10588355 |
single nucleotide variant | NM_003242.6(TGFBR2):c.1338T>G (p.Asp446Glu) | TGFBR2 | Likely pathogenic | 3 | 30715680 | 30715680 | T | G | criteria provided, single submitter | ClinGen:CA321430 |
single nucleotide variant | NM_003242.6(TGFBR2):c.1346C>G (p.Ser449Cys) | TGFBR2 | Pathogenic | 3 | 30715688 | 30715688 | C | G | criteria provided, single submitter | ClinGen:CA16611314 |
single nucleotide variant | NM_003242.6(TGFBR2):c.1378C>T (p.Arg460Cys) | TGFBR2 | Pathogenic | 3 | 30715720 | 30715720 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA020661,UniProtKB:P37173#VAR_029760,OMIM:190182.0014 |
single nucleotide variant | NM_003242.6(TGFBR2):c.1379G>A (p.Arg460His) | TGFBR2 | Pathogenic | 3 | 30715721 | 30715721 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA020664,UniProtKB:P37173#VAR_029761,OMIM:190182.0015 |
single nucleotide variant | NM_003242.6(TGFBR2):c.1379G>T (p.Arg460Leu) | TGFBR2 | Pathogenic | 3 | 30715721 | 30715721 | G | T | criteria provided, single submitter | ClinGen:CA351809138 |
single nucleotide variant | NM_003242.6(TGFBR2):c.1381T>C (p.Cys461Arg) | TGFBR2 | Pathogenic | 3 | 30715723 | 30715723 | T | C | criteria provided, single submitter | ClinGen:CA351809141 |