single nucleotide variant | NM_005359.6(SMAD4):c.1363C>T (p.Gln455Ter) | SMAD4 | Pathogenic | 18 | 48603062 | 48603062 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_005359.6(SMAD4):c.1194G>A (p.Trp398Ter) | SMAD4 | Pathogenic | 18 | 48593443 | 48593443 | G | A | criteria provided, multiple submitters, no conflicts | - |
Duplication | NM_005359.6(SMAD4):c.1067dup (p.Ser357fs) | SMAD4 | Pathogenic | 18 | 48591901 | 48591902 | A | AC | criteria provided, single submitter | - |
Deletion | NM_005359.6(SMAD4):c.443del (p.Leu148fs) | SMAD4 | Pathogenic | 18 | 48575683 | 48575683 | CT | C | criteria provided, single submitter | - |
single nucleotide variant | NM_005359.6(SMAD4):c.399C>A (p.Tyr133Ter) | SMAD4 | Pathogenic | 18 | 48575205 | 48575205 | C | A | criteria provided, single submitter | - |
single nucleotide variant | NM_005359.6(SMAD4):c.247C>T (p.Gln83Ter) | SMAD4 | Pathogenic | 18 | 48573663 | 48573663 | C | T | criteria provided, single submitter | - |
Deletion | NM_005359.6(SMAD4):c.69del (p.Met24fs) | SMAD4 | Pathogenic | 18 | 48573485 | 48573485 | TG | T | criteria provided, single submitter | - |
Deletion | NM_004329.3(BMPR1A):c.1267del (p.Gln423fs) | BMPR1A | Pathogenic | 10 | 88681376 | 88681376 | TC | T | criteria provided, single submitter | - |
single nucleotide variant | NM_004329.3(BMPR1A):c.813G>A (p.Trp271Ter) | BMPR1A | Pathogenic | 10 | 88677028 | 88677028 | G | A | criteria provided, single submitter | - |
Deletion | NM_004329.3(BMPR1A):c.244del (p.Cys82fs) | BMPR1A | Pathogenic | 10 | 88651896 | 88651896 | AT | A | criteria provided, single submitter | - |