Deletion | NC_000018.10:g.(?_51076628)_(51078477_?)del | SMAD4 | Pathogenic | 18 | 48602998 | 48604847 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_005359.6(SMAD4):c.585C>G (p.Tyr195Ter) | SMAD4 | Pathogenic | 18 | 48581281 | 48581281 | C | G | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_005359.6(SMAD4):c.1572G>A (p.Trp524Ter) | SMAD4 | Pathogenic | 18 | 48604750 | 48604750 | G | A | criteria provided, single submitter | - |
Deletion | NM_005359.6(SMAD4):c.1343_1367del (p.Gln448fs) | SMAD4 | Pathogenic | 18 | 48603040 | 48603064 | TGCAGCAGCAGGCGGCTACTGCACAA | T | criteria provided, single submitter | - |
Duplication | NM_005359.6(SMAD4):c.939dup (p.Ile314fs) | SMAD4 | Pathogenic | 18 | 48586267 | 48586268 | T | TC | criteria provided, multiple submitters, no conflicts | - |
Deletion | NC_000018.10:g.(?_51030213)_(51078477_?)del | SMAD4 | Pathogenic | 18 | 48556583 | 48604847 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_005359.6(SMAD4):c.1523G>A (p.Gly508Asp) | SMAD4 | Likely pathogenic | 18 | 48604701 | 48604701 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_005359.6(SMAD4):c.1308+2T>C | SMAD4 | Pathogenic | 18 | 48593559 | 48593559 | T | C | criteria provided, single submitter | - |
Deletion | NM_005359.6(SMAD4):c.955+1del | SMAD4 | Likely pathogenic | 18 | 48586286 | 48586286 | TG | T | criteria provided, single submitter | ClinGen:CA658799061 |
single nucleotide variant | NM_005359.6(SMAD4):c.454+2T>C | SMAD4 | Likely pathogenic | 18 | 48575696 | 48575696 | T | C | criteria provided, single submitter | ClinGen:CA402459644 |