single nucleotide variant | NM_005359.6(SMAD4):c.399C>A (p.Tyr133Ter) | SMAD4 | Pathogenic | 18 | 48575205 | 48575205 | C | A | criteria provided, single submitter | - |
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.424+1G>A | SMAD4 | Pathogenic/Likely pathogenic | 18 | 48575231 | 48575231 | G | A | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_005359.6(SMAD4):c.443del (p.Leu148fs) | SMAD4 | Pathogenic | 18 | 48575683 | 48575683 | CT | C | criteria provided, single submitter | - |
single nucleotide variant | NM_005359.6(SMAD4):c.454+2T>C | SMAD4 | Likely pathogenic | 18 | 48575696 | 48575696 | T | C | criteria provided, single submitter | ClinGen:CA402459644 |
single nucleotide variant | NM_005359.6(SMAD4):c.461C>G (p.Ser154Ter) | SMAD4 | Pathogenic | 18 | 48581157 | 48581157 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA402460591 |
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 | - |
single nucleotide variant | NM_005359.6(SMAD4):c.585C>G (p.Tyr195Ter) | SMAD4 | Pathogenic | 18 | 48581281 | 48581281 | C | G | criteria provided, multiple submitters, no conflicts | - |
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 |