single nucleotide variant | NM_005359.6(SMAD4):c.1162C>T (p.Gln388Ter) | SMAD4 | Pathogenic | 18 | 48593411 | 48593411 | C | T | criteria provided, single submitter | ClinGen:CA342589 |
single nucleotide variant | NM_005359.6(SMAD4):c.1148T>G (p.Ile383Arg) | SMAD4 | Likely pathogenic | 18 | 48593397 | 48593397 | T | G | criteria provided, single submitter | - |
single nucleotide variant | NM_005359.6(SMAD4):c.1142T>A (p.Leu381Ter) | SMAD4 | Pathogenic | 18 | 48593391 | 48593391 | T | A | criteria provided, single submitter | ClinGen:CA339552 |
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.1140-2A>C | SMAD4 | Likely pathogenic | 18 | 48593387 | 48593387 | A | C | criteria provided, single submitter | - |
single nucleotide variant | NM_005359.6(SMAD4):c.1139+1G>A | SMAD4 | Likely pathogenic | 18 | 48591977 | 48591977 | G | A | criteria provided, single submitter | - |
Deletion | NM_005359.5(SMAD4):c.(?_-538)_1139+?del | SMAD4 | Pathogenic | 18 | 48556583 | 48591976 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_005359.6(SMAD4):c.1139G>A (p.Arg380Lys) | SMAD4 | Pathogenic/Likely pathogenic | 18 | 48591976 | 48591976 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA259219 |
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.1096C>T (p.Gln366Ter) | SMAD4 | Pathogenic | 18 | 48591933 | 48591933 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16616081 |