single nucleotide variant | NM_001114753.3(ENG):c.1272+1G>A | ENG | Pathogenic | 9 | 130582178 | 130582178 | C | T | criteria provided, single submitter | ClinGen:CA320498 |
single nucleotide variant | NM_001114753.3(ENG):c.1312A>T (p.Lys438Ter) | ENG | Pathogenic | 9 | 130581111 | 130581111 | T | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA322837 |
single nucleotide variant | NM_001114753.3(ENG):c.1428+2T>C | ENG | Pathogenic | 9 | 130580993 | 130580993 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA325022 |
single nucleotide variant | NM_001114753.3(ENG):c.1715T>A (p.Leu572Ter) | ENG | Pathogenic | 9 | 130579454 | 130579454 | A | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA322673 |
Duplication | NM_005359.6(SMAD4):c.1354_1381dup (p.Gln461fs) | SMAD4 | Pathogenic | 18 | 48603052 | 48603053 | G | GGCTACTGCACAAGCTGCAGCAGCTGCCC | criteria provided, single submitter | ClinGen:CA334241 |
Duplication | NM_005359.6(SMAD4):c.1242dup (p.Asp415fs) | SMAD4 | Pathogenic | 18 | 48593490 | 48593491 | T | TA | criteria provided, single submitter | ClinGen:CA187376 |
Duplication | NM_005359.6(SMAD4):c.898_904+1dup | SMAD4 | Pathogenic | 18 | 48584819 | 48584820 | A | ACATTACTG | criteria provided, single submitter | ClinGen:CA191750 |
Duplication | NM_005359.6(SMAD4):c.153dup (p.Asp52fs) | SMAD4 | Pathogenic | 18 | 48573563 | 48573564 | G | GA | criteria provided, multiple submitters, no conflicts | ClinGen:CA197041 |
Deletion | NM_005359.6(SMAD4):c.1338_1339del (p.Gln446fs) | SMAD4 | Pathogenic | 18 | 48603036 | 48603037 | CAG | C | criteria provided, single submitter | ClinGen:CA299974 |
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 |