Deletion | NM_004329.3(BMPR1A):c.247_251del (p.Phe83fs) | BMPR1A | Pathogenic | 10 | 88651896 | 88651900 | ATTGCT | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA334485 |
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.1081C>T (p.Arg361Ter) | BMPR1A | Pathogenic | 10 | 88679141 | 88679141 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA186249 |
Deletion | NM_004329.3(BMPR1A):c.420del (p.Val141fs) | BMPR1A | Pathogenic | 10 | 88659637 | 88659637 | CT | C | criteria provided, single submitter | ClinGen:CA190154 |
Duplication | NM_004329.3(BMPR1A):c.216dup (p.Asn73Ter) | BMPR1A | Pathogenic | 10 | 88649965 | 88649966 | A | AT | criteria provided, multiple submitters, no conflicts | ClinGen:CA189133 |
Deletion | NM_004329.3(BMPR1A):c.176del (p.Phe58_Leu59insTer) | BMPR1A | Pathogenic | 10 | 88649922 | 88649922 | CT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA186193 |
single nucleotide variant | NM_004329.3(BMPR1A):c.1A>G (p.Met1Val) | BMPR1A | Pathogenic/Likely pathogenic | 10 | 88635776 | 88635776 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA195612 |
single nucleotide variant | NM_004329.3(BMPR1A):c.262G>T (p.Glu88Ter) | BMPR1A | Pathogenic | 10 | 88651915 | 88651915 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA298508 |
single nucleotide variant | NM_004329.3(BMPR1A):c.682C>T (p.Arg228Ter) | BMPR1A | Pathogenic | 10 | 88676897 | 88676897 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA294476 |
single nucleotide variant | NM_004329.3(BMPR1A):c.1037A>G (p.His346Arg) | BMPR1A | Likely pathogenic | 10 | 88679097 | 88679097 | A | G | criteria provided, single submitter | ClinGen:CA168682 |