single nucleotide variant | NM_005359.6(SMAD4):c.1081C>G (p.Arg361Gly) | SMAD4 | Pathogenic | 18 | 48591918 | 48591918 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA128092 |
single nucleotide variant | NM_005359.6(SMAD4):c.1081C>A (p.Arg361Ser) | SMAD4 | Likely pathogenic | 18 | 48591918 | 48591918 | C | A | criteria provided, single submitter | ClinGen:CA259197 |
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 |
Duplication | NM_005359.6(SMAD4):c.1067dup (p.Ser357fs) | SMAD4 | Pathogenic | 18 | 48591901 | 48591902 | A | AC | criteria provided, single submitter | - |
single nucleotide variant | NM_005359.6(SMAD4):c.1059C>G (p.Tyr353Ter) | SMAD4 | Pathogenic | 18 | 48591896 | 48591896 | C | G | criteria provided, single submitter | ClinGen:CA402464300 |
single nucleotide variant | NM_005359.6(SMAD4):c.1054G>A (p.Gly352Arg) | SMAD4 | Pathogenic/Likely pathogenic | 18 | 48591891 | 48591891 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA128090,UniProtKB:Q13485#VAR_019571,UniProtKB/Swiss-Prot:VAR_019571,OMIM:600993.0011 |
single nucleotide variant | NM_005359.6(SMAD4):c.1051G>C (p.Asp351His) | SMAD4 | Likely pathogenic | 18 | 48591888 | 48591888 | G | C | criteria provided, single submitter | ClinGen:CA16602471 |
Deletion | NM_005359.6(SMAD4):c.1037del (p.Pro346fs) | SMAD4 | Pathogenic | 18 | 48591872 | 48591872 | GC | G | criteria provided, single submitter | ClinGen:CA259200 |
Deletion | NM_005359.6(SMAD4):c.1023del (p.Pro342fs) | SMAD4 | Pathogenic | 18 | 48591859 | 48591859 | GT | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA658658744 |
single nucleotide variant | NM_005359.6(SMAD4):c.989A>G (p.Glu330Gly) | SMAD4 | Likely pathogenic | 18 | 48591826 | 48591826 | A | G | criteria provided, single submitter | ClinGen:CA165407,UniProtKB:Q13485#VAR_022833,UniProtKB/Swiss-Prot:VAR_022833 |