single nucleotide variant | NM_005359.6(SMAD4):c.424+1G>A | SMAD4 | Pathogenic/Likely pathogenic | 18 | 48575231 | 48575231 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_005359.6(SMAD4):c.403C>T (p.Arg135Ter) | SMAD4 | Pathogenic | 18 | 48575209 | 48575209 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA259169 |
single nucleotide variant | NM_005359.6(SMAD4):c.399C>A (p.Tyr133Ter) | SMAD4 | Pathogenic | 18 | 48575205 | 48575205 | C | A | criteria provided, single submitter | - |
Indel | NM_005359.6(SMAD4):c.326delinsAAATATGAAC (p.Leu109delinsGlnIleTer) | SMAD4 | Pathogenic | 18 | 48575132 | 48575132 | T | AAATATGAAC | criteria provided, single submitter | ClinGen:CA234927 |
single nucleotide variant | NM_005359.6(SMAD4):c.297G>A (p.Trp99Ter) | SMAD4 | Pathogenic/Likely pathogenic | 18 | 48575103 | 48575103 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10580973 |
Deletion | NM_005359.6(SMAD4):c.275_276del (p.His92fs) | SMAD4 | Pathogenic | 18 | 48575081 | 48575082 | CAT | C | criteria provided, single submitter | ClinGen:CA658658740 |
Deletion | NM_005359.6(SMAD4):c.263_267del (p.Lys88fs) | SMAD4 | Pathogenic | 18 | 48575066 | 48575070 | CGGAAA | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA16615823 |
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 |
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 |
single nucleotide variant | NM_005359.6(SMAD4):c.247C>T (p.Gln83Ter) | SMAD4 | Pathogenic | 18 | 48573663 | 48573663 | C | T | criteria provided, single submitter | - |