Deletion | NC_000018.10:g.(?_51076628)_(51078477_?)del | SMAD4 | Pathogenic | 18 | 48602998 | 48604847 | na | na | criteria provided, single submitter | - |
Deletion | NC_000018.10:g.(?_51030213)_(51078477_?)del | SMAD4 | Pathogenic | 18 | 48556583 | 48604847 | na | na | criteria provided, single submitter | - |
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.1612G>T (p.Glu538Ter) | SMAD4 | Likely pathogenic | 18 | 48604790 | 48604790 | G | T | criteria provided, single submitter | - |
single nucleotide variant | NM_005359.6(SMAD4):c.1598T>C (p.Leu533Pro) | SMAD4 | Likely pathogenic | 18 | 48604776 | 48604776 | T | C | criteria provided, single submitter | - |
Duplication | NM_005359.6(SMAD4):c.1587dup (p.His530fs) | SMAD4 | Pathogenic | 18 | 48604764 | 48604765 | T | TA | criteria provided, single submitter | ClinGen:CA259264 |
Duplication | NM_005359.6(SMAD4):c.1585_1586dup (p.Leu529fs) | SMAD4 | Pathogenic | 18 | 48604762 | 48604763 | C | CTT | criteria provided, single submitter | ClinGen:CA10580992 |
single nucleotide variant | NM_005359.6(SMAD4):c.1572G>A (p.Trp524Ter) | SMAD4 | Pathogenic | 18 | 48604750 | 48604750 | G | A | criteria provided, single submitter | - |
Duplication | NM_005359.6(SMAD4):c.1547dup (p.Ser517fs) | SMAD4 | Pathogenic | 18 | 48604724 | 48604725 | C | CA | criteria provided, multiple submitters, no conflicts | ClinGen:CA270878 |
single nucleotide variant | NM_005359.6(SMAD4):c.1529G>T (p.Gly510Val) | SMAD4 | Likely pathogenic | 18 | 48604707 | 48604707 | G | T | criteria provided, single submitter | - |