single nucleotide variant | NM_005359.6(SMAD4):c.1308+2T>C | SMAD4 | Pathogenic | 18 | 48593559 | 48593559 | T | C | criteria provided, single submitter | - |
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.1308+1G>T | SMAD4 | Likely pathogenic | 18 | 48593558 | 48593558 | G | T | criteria provided, single submitter | ClinGen:CA164956 |
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 |
Duplication | NM_005359.6(SMAD4):c.1258_1259dup (p.Ala421fs) | SMAD4 | Pathogenic | 18 | 48593505 | 48593506 | G | GGC | criteria provided, multiple submitters, no conflicts | ClinGen:CA299973 |
Deletion | NM_005359.6(SMAD4):c.1245_1248del (p.Asp415Glufs) | SMAD4 | Pathogenic | 18 | 48593491 | 48593494 | TAGAC | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA259232,OMIM:600993.0005 |
Deletion | NM_005359.6(SMAD4):c.1242del (p.Asp415fs) | SMAD4 | Pathogenic | 18 | 48593491 | 48593491 | TA | T | criteria provided, single submitter | ClinGen:CA259233 |
Duplication | NM_005359.6(SMAD4):c.1242dup (p.Asp415fs) | SMAD4 | Pathogenic | 18 | 48593490 | 48593491 | T | TA | criteria provided, single submitter | ClinGen:CA187376 |
Deletion | NM_005359.6(SMAD4):c.1239_1241del (p.Tyr413_Leu414delinsTer) | SMAD4 | Pathogenic | 18 | 48593488 | 48593490 | ACTT | A | criteria provided, single submitter | ClinGen:CA658658751 |
single nucleotide variant | NM_005359.6(SMAD4):c.1239C>A (p.Tyr413Ter) | SMAD4 | Pathogenic | 18 | 48593488 | 48593488 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA299967 |