Deletion | NM_005359.6(SMAD4):c.275_276del (p.His92fs) | SMAD4 | Pathogenic | 18 | 48575081 | 48575082 | CAT | C | criteria provided, single submitter | ClinGen:CA658658740 |
Duplication | NM_005359.6(SMAD4):c.1201dup (p.Cys401fs) | SMAD4 | Pathogenic | 18 | 48593449 | 48593450 | G | GT | criteria provided, multiple submitters, no conflicts | ClinGen:CA658658749 |
Deletion | NM_005359.6(SMAD4):c.1023del (p.Pro342fs) | SMAD4 | Pathogenic | 18 | 48591859 | 48591859 | GT | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA658658744 |
Deletion | NM_005359.6(SMAD4):c.903del (p.Trp302fs) | SMAD4 | Pathogenic | 18 | 48584825 | 48584825 | AC | A | criteria provided, single submitter | ClinGen:CA658658743 |
Deletion | NM_005359.6(SMAD4):c.1418del (p.Gly473fs) | SMAD4 | Pathogenic | 18 | 48603116 | 48603116 | AG | A | criteria provided, single submitter | ClinGen:CA658658752 |
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 |
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 |
Deletion | NM_005359.6(SMAD4):c.1349_1376del (p.Gln450fs) | SMAD4 | Pathogenic | 18 | 48603039 | 48603066 | ATGCAGCAGCAGGCGGCTACTGCACAAGC | A | criteria provided, single submitter | ClinGen:CA645609184 |
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 | NC_000018.10:g.(?_51065417)_(51067193_?)del | SMAD4 | Pathogenic | 18 | 48591787 | 48593563 | na | na | criteria provided, single submitter | - |