Deletion | NM_005359.6(SMAD4):c.1529del (p.Gly510fs) | SMAD4 | Pathogenic | 18 | 48604704 | 48604704 | TG | T | criteria provided, single submitter | ClinGen:CA16615816 |
single nucleotide variant | NM_005359.6(SMAD4):c.1523G>A (p.Gly508Asp) | SMAD4 | Likely pathogenic | 18 | 48604701 | 48604701 | G | A | criteria provided, single submitter | - |
Deletion | NM_005359.6(SMAD4):c.1515del (p.Phe505fs) | SMAD4 | Pathogenic/Likely pathogenic | 18 | 48604690 | 48604690 | GT | G | criteria provided, single submitter | ClinGen:CA349749 |
single nucleotide variant | NM_005359.6(SMAD4):c.1499T>C (p.Ile500Thr) | SMAD4 | Pathogenic | 18 | 48604677 | 48604677 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA128977,UniProtKB:Q13485#VAR_067603,UniProtKB/Swiss-Prot:VAR_067603,OMIM:600993.0015 |
single nucleotide variant | NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val) | SMAD4 | Pathogenic | 18 | 48604676 | 48604676 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA128979,UniProtKB:Q13485#VAR_067604,UniProtKB/Swiss-Prot:VAR_067604,OMIM:600993.0016 |
single nucleotide variant | NM_005359.6(SMAD4):c.1495T>C (p.Cys499Arg) | SMAD4 | Likely pathogenic | 18 | 48604673 | 48604673 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA16615805 |
single nucleotide variant | NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys) | SMAD4 | Pathogenic/Likely pathogenic | 18 | 48604664 | 48604664 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA145285 |
single nucleotide variant | NM_005359.6(SMAD4):c.1447+2T>C | SMAD4 | Likely pathogenic | 18 | 48603148 | 48603148 | T | C | criteria provided, single submitter | ClinGen:CA16616086 |
Deletion | NM_005359.6(SMAD4):c.1418del (p.Gly473fs) | SMAD4 | Pathogenic | 18 | 48603116 | 48603116 | AG | A | criteria provided, single submitter | ClinGen:CA658658752 |
Deletion | NM_005359.6(SMAD4):c.1409del (p.Pro470fs) | SMAD4 | Pathogenic | 18 | 48603106 | 48603106 | TC | T | criteria provided, single submitter | ClinGen:CA658799053 |