single nucleotide variant | NM_005359.6(SMAD4):c.1051G>C (p.Asp351His) | SMAD4 | Likely pathogenic | 18 | 48591888 | 48591888 | G | C | criteria provided, single submitter | ClinGen:CA16602471 |
Deletion | NM_005359.6(SMAD4):c.1037del (p.Pro346fs) | SMAD4 | Pathogenic | 18 | 48591872 | 48591872 | GC | G | criteria provided, single submitter | ClinGen:CA259200 |
Deletion | NM_005359.6(SMAD4):c.1023del (p.Pro342fs) | SMAD4 | Pathogenic | 18 | 48591859 | 48591859 | GT | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA658658744 |
single nucleotide variant | NM_005359.6(SMAD4):c.989A>G (p.Glu330Gly) | SMAD4 | Likely pathogenic | 18 | 48591826 | 48591826 | A | G | criteria provided, single submitter | ClinGen:CA165407,UniProtKB:Q13485#VAR_022833,UniProtKB/Swiss-Prot:VAR_022833 |
Deletion | NM_005359.6(SMAD4):c.955+1del | SMAD4 | Likely pathogenic | 18 | 48586286 | 48586286 | TG | T | criteria provided, single submitter | ClinGen:CA658799061 |
Duplication | NM_005359.6(SMAD4):c.939dup (p.Ile314fs) | SMAD4 | Pathogenic | 18 | 48586267 | 48586268 | T | TC | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_005359.6(SMAD4):c.931C>T (p.Gln311Ter) | SMAD4 | Pathogenic | 18 | 48586262 | 48586262 | C | T | criteria provided, single submitter | ClinGen:CA10580984 |
single nucleotide variant | NM_005359.6(SMAD4):c.906G>A (p.Trp302Ter) | SMAD4 | Pathogenic | 18 | 48586237 | 48586237 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10583704 |
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 |