Deletion | NC_000010.11:g.(?_86838866)_(87965482_?)del | BMPR1A | Pathogenic | 10 | 88598623 | 89725239 | na | na | criteria provided, single submitter | - |
Deletion | NC_000010.11:g.(?_86755016)_(87965482_?)del | BMPR1A | Pathogenic | 10 | 88514773 | 89725239 | na | na | criteria provided, single submitter | - |
Deletion | NC_000010.10:g.(?_88649809)_(89725239_?)del | BMPR1A | Pathogenic | 10 | 88649809 | 89725239 | na | na | criteria provided, single submitter | - |
Deletion | NM_004329.2(BMPR1A):c.-152-?_*1469del | BMPR1A | Pathogenic | 10 | 88635624 | 88684945 | na | na | criteria provided, single submitter | - |
Deletion | NC_000010.11:g.(?_86876009)_(86923729_?)del | BMPR1A | Pathogenic | 10 | 88635766 | 88683486 | na | na | criteria provided, single submitter | - |
Deletion | NC_000010.11:g.(?_86755016)_(86923729_?)del | BMPR1A | Pathogenic | 10 | 88514773 | 88683486 | na | na | criteria provided, single submitter | - |
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 |