single nucleotide variant | NM_000020.3(ACVRL1):c.1232G>C (p.Arg411Pro) | ACVRL1 | Pathogenic | 12 | 52310003 | 52310003 | G | C | criteria provided, single submitter | ClinGen:CA119413,UniProtKB:P37023#VAR_026808,OMIM:601284.0015 |
single nucleotide variant | NM_005359.6(SMAD4):c.1081C>T (p.Arg361Cys) | SMAD4 | Pathogenic | 18 | 48591918 | 48591918 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA128095,UniProtKB:Q13485#VAR_019572,UniProtKB/Swiss-Prot:VAR_019572,OMIM:600993.0008 |
single nucleotide variant | NM_001114753.3(ENG):c.360+4A>G | ENG | Likely pathogenic | 9 | 130591962 | 130591962 | T | C | criteria provided, multiple submitters, no conflicts | OMIM:131195.0004 |
single nucleotide variant | NM_001114753.3(ENG):c.2T>C (p.Met1Thr) | ENG | Pathogenic | 9 | 130616633 | 130616633 | A | G | criteria provided, single submitter | ClinGen:CA257569,OMIM:131195.0006 |
single nucleotide variant | NM_001114753.3(ENG):c.360C>A (p.Tyr120Ter) | ENG | Pathogenic | 9 | 130591966 | 130591966 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA257574,OMIM:131195.0009 |
single nucleotide variant | NM_005359.6(SMAD4):c.1162C>T (p.Gln388Ter) | SMAD4 | Pathogenic | 18 | 48593411 | 48593411 | C | T | criteria provided, single submitter | ClinGen:CA342589 |
single nucleotide variant | NM_005359.6(SMAD4):c.403C>T (p.Arg135Ter) | SMAD4 | Pathogenic | 18 | 48575209 | 48575209 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA259169 |
single nucleotide variant | NM_005359.6(SMAD4):c.533C>G (p.Ser178Ter) | SMAD4 | Pathogenic/Likely pathogenic | 18 | 48581229 | 48581229 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA259180 |
single nucleotide variant | NM_005359.6(SMAD4):c.538C>T (p.Gln180Ter) | SMAD4 | Pathogenic | 18 | 48581234 | 48581234 | C | T | criteria provided, single submitter | - |
Duplication | NM_005359.6(SMAD4):c.692dup (p.Ser232fs) | SMAD4 | Pathogenic | 18 | 48584513 | 48584514 | T | TG | criteria provided, multiple submitters, no conflicts | ClinGen:CA259187,OMIM:600993.0007 |