single nucleotide variant | NM_004329.3(BMPR1A):c.245G>T (p.Cys82Phe) | BMPR1A | Likely pathogenic | 10 | 88651898 | 88651898 | G | T | criteria provided, single submitter | ClinGen:CA377447951 |
single nucleotide variant | NM_004329.3(BMPR1A):c.1021G>T (p.Gly341Cys) | BMPR1A | Likely pathogenic | 10 | 88679081 | 88679081 | G | T | criteria provided, single submitter | ClinGen:CA377460608 |
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 |
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.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.454+2T>C | SMAD4 | Likely pathogenic | 18 | 48575696 | 48575696 | T | C | criteria provided, single submitter | ClinGen:CA402459644 |
Deletion | NM_005359.6(SMAD4):c.955+1del | SMAD4 | Likely pathogenic | 18 | 48586286 | 48586286 | TG | T | criteria provided, single submitter | ClinGen:CA658799061 |
single nucleotide variant | NM_005359.6(SMAD4):c.1523G>A (p.Gly508Asp) | SMAD4 | Likely pathogenic | 18 | 48604701 | 48604701 | G | A | criteria provided, single submitter | - |
Deletion | NC_000010.11:g.(?_86755016)_(86757045_?)del | BMPR1A | Likely pathogenic | 10 | 88514773 | 88516802 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_004329.3(BMPR1A):c.231-1G>C | BMPR1A | Likely pathogenic | 10 | 88651883 | 88651883 | G | C | criteria provided, single submitter | - |