single nucleotide variant | NM_004329.3(BMPR1A):c.1511G>A (p.Trp504Ter) | BMPR1A | Pathogenic | 10 | 88683388 | 88683388 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10582751 |
single nucleotide variant | NM_004329.3(BMPR1A):c.1480C>T (p.Arg494Ter) | BMPR1A | Pathogenic/Likely pathogenic | 10 | 88683357 | 88683357 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA186232 |
single nucleotide variant | NM_004329.3(BMPR1A):c.1474-2A>G | BMPR1A | Likely pathogenic | 10 | 88683349 | 88683349 | A | G | criteria provided, single submitter | ClinGen:CA164082 |
single nucleotide variant | NM_004329.3(BMPR1A):c.1460G>A (p.Trp487Ter) | BMPR1A | Pathogenic | 10 | 88683250 | 88683250 | G | A | criteria provided, single submitter | ClinGen:CA377463185 |
single nucleotide variant | NM_004329.3(BMPR1A):c.1401C>A (p.Tyr467Ter) | BMPR1A | Pathogenic | 10 | 88683191 | 88683191 | C | A | criteria provided, single submitter | ClinGen:CA377462910 |
single nucleotide variant | NM_004329.3(BMPR1A):c.1374C>A (p.Tyr458Ter) | BMPR1A | Pathogenic | 10 | 88683164 | 88683164 | C | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_004329.3(BMPR1A):c.1360C>T (p.Gln454Ter) | BMPR1A | Pathogenic | 10 | 88683150 | 88683150 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA377462694 |
single nucleotide variant | NM_004329.3(BMPR1A):c.1342+2T>G | BMPR1A | Likely pathogenic | 10 | 88681454 | 88681454 | T | G | criteria provided, single submitter | - |
single nucleotide variant | NM_004329.3(BMPR1A):c.1314G>A (p.Trp438Ter) | BMPR1A | Pathogenic | 10 | 88681424 | 88681424 | G | A | criteria provided, single submitter | - |
Deletion | NM_004329.3(BMPR1A):c.1267del (p.Gln423fs) | BMPR1A | Pathogenic | 10 | 88681376 | 88681376 | TC | T | criteria provided, single submitter | - |