Duplication | NM_004329.3(BMPR1A):c.864dup (p.Leu289fs) | BMPR1A | Pathogenic | 10 | 88677078 | 88677079 | T | TA | criteria provided, single submitter | ClinGen:CA658797467 |
Duplication | NM_004329.3(BMPR1A):c.847dup (p.Met283fs) | BMPR1A | Pathogenic | 10 | 88677060 | 88677061 | T | TA | criteria provided, single submitter | - |
single nucleotide variant | NM_004329.3(BMPR1A):c.834C>A (p.Tyr278Ter) | BMPR1A | Pathogenic | 10 | 88677049 | 88677049 | C | A | criteria provided, single submitter | ClinGen:CA377458622 |
Deletion | NM_004329.3(BMPR1A):c.826_827del (p.Glu276fs) | BMPR1A | Pathogenic | 10 | 88677040 | 88677041 | CAG | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA166103 |
single nucleotide variant | NM_004329.3(BMPR1A):c.817C>T (p.Arg273Ter) | BMPR1A | Pathogenic | 10 | 88677032 | 88677032 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA168144 |
single nucleotide variant | NM_004329.3(BMPR1A):c.813G>A (p.Trp271Ter) | BMPR1A | Pathogenic | 10 | 88677028 | 88677028 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_004329.3(BMPR1A):c.812G>A (p.Trp271Ter) | BMPR1A | Pathogenic | 10 | 88677027 | 88677027 | G | A | criteria provided, single submitter | ClinGen:CA254358,OMIM:601299.0003 |
Deletion | NM_004329.3(BMPR1A):c.771del (p.Val258fs) | BMPR1A | Pathogenic | 10 | 88676982 | 88676982 | GA | G | criteria provided, single submitter | ClinGen:CA10582748 |
single nucleotide variant | NM_004329.3(BMPR1A):c.735T>G (p.Tyr245Ter) | BMPR1A | Pathogenic | 10 | 88676950 | 88676950 | T | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA377457369 |
Duplication | NM_004329.3(BMPR1A):c.731dup (p.Tyr245fs) | BMPR1A | Pathogenic | 10 | 88676945 | 88676946 | C | CG | criteria provided, single submitter | ClinGen:CA658797466 |