Deletion | NM_005359.5(SMAD4):c.669_691delTCAGCCTGCCAGTATACTGGGGG | SMAD4 | Pathogenic | 18 | 48584494 | 48584516 | AGGTCAGCCTGCCAGTATACTGGG | A | criteria provided, single submitter | ClinGen:CA16620702 |
Deletion | NM_005359.6(SMAD4):c.728_735del (p.Gly243fs) | SMAD4 | Pathogenic | 18 | 48584551 | 48584558 | ATCAGGGCC | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16616070 |
Insertion | NM_005359.5(SMAD4):c.731_732insGCCC(p.Gln245Profs) | SMAD4 | Pathogenic | 18 | 48584558 | 48584559 | G | GCCGC | criteria provided, multiple submitters, no conflicts | ClinGen:CA259188 |
Deletion | NM_005359.6(SMAD4):c.752del (p.Asn251fs) | SMAD4 | Pathogenic | 18 | 48584578 | 48584578 | GA | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA658658742 |
Deletion | NM_005359.6(SMAD4):c.886_895del (p.Pro296fs) | SMAD4 | Pathogenic | 18 | 48584805 | 48584814 | GCCGCCCCATC | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA353499 |
Duplication | NM_005359.6(SMAD4):c.898_904+1dup | SMAD4 | Pathogenic | 18 | 48584819 | 48584820 | A | ACATTACTG | criteria provided, single submitter | ClinGen:CA191750 |
single nucleotide variant | NM_005359.6(SMAD4):c.903C>G (p.Tyr301Ter) | SMAD4 | Pathogenic | 18 | 48584825 | 48584825 | C | G | criteria provided, single submitter | ClinGen:CA16620705 |
Deletion | NM_005359.6(SMAD4):c.903del (p.Trp302fs) | SMAD4 | Pathogenic | 18 | 48584825 | 48584825 | AC | A | criteria provided, single submitter | ClinGen:CA658658743 |
single nucleotide variant | NM_005359.6(SMAD4):c.905-1G>A | SMAD4 | Likely pathogenic | 18 | 48586235 | 48586235 | G | A | criteria provided, single submitter | ClinGen:CA402463631 |
single nucleotide variant | NM_005359.6(SMAD4):c.905G>A (p.Trp302Ter) | SMAD4 | Pathogenic | 18 | 48586236 | 48586236 | G | A | criteria provided, single submitter | ClinGen:CA402463634 |