Deletion | NM_005359.6(SMAD4):c.1228_1229del (p.Gln410fs) | SMAD4 | Pathogenic | 18 | 48593476 | 48593477 | TAC | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA658658750 |
Deletion | NM_005359.6(SMAD4):c.1166_1167del (p.Gln388_Leu389insTer) | SMAD4 | Pathogenic | 18 | 48593415 | 48593416 | TTG | T | criteria provided, single submitter | ClinGen:CA658658748 |
Deletion | NM_005359.6(SMAD4):c.1138del (p.Arg380fs) | SMAD4 | Pathogenic | 18 | 48591974 | 48591974 | CA | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA658658745 |
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 |
Deletion | NC_000018.9:g.(?_48573411)_(48604843_?)del | SMAD4 | Pathogenic | 18 | 48573411 | 48604843 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_005359.6(SMAD4):c.1140-1G>A | SMAD4 | Pathogenic | 18 | 48593388 | 48593388 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA402464705 |
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_005359.5(SMAD4):c.669_691delTCAGCCTGCCAGTATACTGGGGG | SMAD4 | Pathogenic | 18 | 48584494 | 48584516 | AGGTCAGCCTGCCAGTATACTGGG | A | criteria provided, single submitter | ClinGen:CA16620702 |
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 |
single nucleotide variant | NM_005359.6(SMAD4):c.1096C>T (p.Gln366Ter) | SMAD4 | Pathogenic | 18 | 48591933 | 48591933 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16616081 |