Duplication | NC_000015.9:g.(?_32971947)_(33004759_?)dup | GREM1 | Pathogenic | 15 | 32971947 | 33004759 | na | na | criteria provided, single submitter | - |
Deletion | NM_004329.3(BMPR1A):c.-547_-268+1del | BMPR1A | Pathogenic | 10 | 88516395 | 88516675 | CGGCGGCCGCTGCAGAGATTGGAATCCGCCTGCCGGGCTTGGCGAAGGAGAAGGGAGGAGGCAGGAGCGAGGAGGGAGGAGGGCCAAGGGCGGGCAGGAAGGCTTAGGCTCGGCGCGTCCGTCCGCGCGCGGCGAAGATCGCACGGCCCGATCGAGGGGCGACCGGGTCGGGGCCGCTGCACGCCAAGGGCGAAGGCCGATTCGGGCCCCACTTCGCCCCGGCGGCTCGCCGCGCCCACCCGCTCCGCGCCGAGGGCTGGAGGATGCGTTCCCTGGGGTCCG | C | criteria provided, single submitter | - |
Deletion | NC_000010.11:g.(?_86755016)_(86756919_?)del | BMPR1A | Likely pathogenic | 10 | 88514773 | 88516676 | na | na | 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.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.1A>C (p.Met1Leu) | BMPR1A | Pathogenic/Likely pathogenic | 10 | 88635776 | 88635776 | A | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA377774739 |
Deletion | NM_004329.3(BMPR1A):c.-1_2del (p.Met1del) | BMPR1A | Likely pathogenic | 10 | 88635775 | 88635777 | CAAT | C | criteria provided, single submitter | - |
single nucleotide variant | NM_004329.3(BMPR1A):c.3G>C (p.Met1Ile) | BMPR1A | Pathogenic/Likely pathogenic | 10 | 88635778 | 88635778 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA353511 |
single nucleotide variant | NM_004329.3(BMPR1A):c.15C>A (p.Tyr5Ter) | BMPR1A | Pathogenic | 10 | 88635790 | 88635790 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA377774768 |
Deletion | NM_004329.3(BMPR1A):c.39del (p.Tyr14fs) | BMPR1A | Pathogenic/Likely pathogenic | 10 | 88635813 | 88635813 | GC | G | criteria provided, multiple submitters, no conflicts | - |