Deletion | NM_005359.6(SMAD4):c.1409del (p.Pro470fs) | SMAD4 | Pathogenic | 18 | 48603106 | 48603106 | TC | T | criteria provided, single submitter | ClinGen:CA658799053 |
Duplication | NM_005359.6(SMAD4):c.1407_1410dup (p.Gly471fs) | SMAD4 | Pathogenic | 18 | 48603104 | 48603105 | A | ATCCC | criteria provided, single submitter | ClinGen:CA658799052 |
single nucleotide variant | NM_005359.6(SMAD4):c.1324C>T (p.Gln442Ter) | SMAD4 | Pathogenic | 18 | 48603023 | 48603023 | C | T | criteria provided, single submitter | ClinGen:CA402465134 |
single nucleotide variant | NM_005359.6(SMAD4):c.1309-1G>A | SMAD4 | Pathogenic/Likely pathogenic | 18 | 48603007 | 48603007 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA402465095 |
single nucleotide variant | NM_005359.6(SMAD4):c.1308+1G>A | SMAD4 | Pathogenic/Likely pathogenic | 18 | 48593558 | 48593558 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA402465086 |
single nucleotide variant | NM_005359.6(SMAD4):c.250-1G>C | SMAD4 | Likely pathogenic | 18 | 48575055 | 48575055 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA402458163 |
Duplication | NM_005359.6(SMAD4):c.1271dup (p.Asp424fs) | SMAD4 | Pathogenic/Likely pathogenic | 18 | 48593519 | 48593520 | G | GA | criteria provided, multiple submitters, no conflicts | ClinGen:CA658684194 |
single nucleotide variant | NM_005359.6(SMAD4):c.1059C>G (p.Tyr353Ter) | SMAD4 | Pathogenic | 18 | 48591896 | 48591896 | C | G | criteria provided, single submitter | ClinGen:CA402464300 |
single nucleotide variant | NM_005359.6(SMAD4):c.250-2A>G | SMAD4 | Likely pathogenic | 18 | 48575054 | 48575054 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA402458160 |
Deletion | NM_005359.6(SMAD4):c.1239_1241del (p.Tyr413_Leu414delinsTer) | SMAD4 | Pathogenic | 18 | 48593488 | 48593490 | ACTT | A | criteria provided, single submitter | ClinGen:CA658658751 |