single nucleotide variant | NM_004612.4(TGFBR1):c.680A>T (p.Glu227Val) | TGFBR1 | Likely pathogenic | 9 | 101900246 | 101900246 | A | T | criteria provided, single submitter | ClinGen:CA16618918 |
single nucleotide variant | NM_004612.4(TGFBR1):c.640G>A (p.Gly214Ser) | TGFBR1 | Likely pathogenic | 9 | 101900206 | 101900206 | G | A | criteria provided, single submitter | ClinGen:CA374229530 |
Duplication | NM_004612.4(TGFBR1):c.633_635dup (p.Gly212dup) | TGFBR1 | Pathogenic | 9 | 101900198 | 101900199 | T | TTGG | criteria provided, single submitter | ClinGen:CA658797254 |
Deletion | NC_000009.12:g.(?_99137839)_(99138109_?)del | TGFBR1 | Likely pathogenic | 9 | 101900121 | 101900391 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_004612.4(TGFBR1):c.469C>T (p.Arg157Ter) | TGFBR1 | Pathogenic | 9 | 101894916 | 101894916 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16612807 |
single nucleotide variant | NM_004612.4(TGFBR1):c.230T>G (p.Leu77Ter) | TGFBR1 | Pathogenic | 9 | 101891269 | 101891269 | T | G | criteria provided, single submitter | ClinGen:CA374225763 |
Deletion | NM_004612.4(TGFBR1):c.71_75del (p.Ala24fs) | TGFBR1 | Pathogenic | 9 | 101867557 | 101867561 | GGCGGC | G | criteria provided, single submitter | ClinGen:CA10587680 |
Deletion | NC_000009.12:g.(?_99105186)_(99105322_?)del | TGFBR1 | Pathogenic | 9 | 101867468 | 101867604 | na | na | criteria provided, single submitter | - |
Deletion | NC_000009.12:g.(?_99105186)_(99221914_?)del | TGFBR1 | Pathogenic | 9 | 101867468 | 101984196 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_001613.4(ACTA2):c.46T>C (p.Ser16Pro) | ACTA2 | Likely pathogenic | 10 | 90708642 | 90708642 | A | G | criteria provided, single submitter | ClinGen:CA377513755 |