single nucleotide variant | NM_003238.6(TGFB2):c.213C>A (p.Tyr71Ter) | TGFB2 | Pathogenic | 1 | 218520256 | 218520256 | C | A | criteria provided, single submitter | ClinGen:CA16603523 |
Deletion | NM_003238.6(TGFB2):c.196del (p.Glu66fs) | TGFB2 | Pathogenic | 1 | 218520238 | 218520238 | CG | C | criteria provided, single submitter | - |
Deletion | NM_003238.6(TGFB2):c.156del (p.Pro54fs) | TGFB2 | Likely pathogenic | 1 | 218520199 | 218520199 | GT | G | criteria provided, single submitter | ClinGen:CA645369171 |
Deletion | NC_000009.12:g.(?_99105186)_(99221914_?)del | TGFBR1 | Pathogenic | 9 | 101867468 | 101984196 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_004612.4(TGFBR1):c.1460G>T (p.Arg487Leu) | TGFBR1 | Likely pathogenic | 9 | 101911535 | 101911535 | G | T | criteria provided, single submitter | ClinGen:CA16605939 |
single nucleotide variant | NM_004612.4(TGFBR1):c.1460G>A (p.Arg487Gln) | TGFBR1 | Pathogenic | 9 | 101911535 | 101911535 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA008776,UniProtKB:P36897#VAR_029484,OMIM:190181.0006 |
single nucleotide variant | NM_004612.4(TGFBR1):c.1459C>T (p.Arg487Trp) | TGFBR1 | Pathogenic/Likely pathogenic | 9 | 101911534 | 101911534 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA008768,UniProtKB:P36897#VAR_029485,OMIM:190181.0007 |
single nucleotide variant | NM_004612.4(TGFBR1):c.1457T>C (p.Leu486Ser) | TGFBR1 | Pathogenic/Likely pathogenic | 9 | 101911532 | 101911532 | T | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_004612.4(TGFBR1):c.1444A>G (p.Arg482Gly) | TGFBR1 | Pathogenic | 9 | 101911519 | 101911519 | A | G | criteria provided, single submitter | ClinGen:CA008762 |
single nucleotide variant | NM_004612.4(TGFBR1):c.1420T>C (p.Cys474Arg) | TGFBR1 | Likely pathogenic | 9 | 101911495 | 101911495 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA323032 |