Deletion | NM_001204.6(BMPR2):c.77-?_418+?del | BMPR2 | Pathogenic | 2 | 203329532 | 203332412 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_001204.7(BMPR2):c.1128+1G>C | BMPR2 | Pathogenic | 2 | 203395678 | 203395678 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA10602826 |
single nucleotide variant | NM_001204.7(BMPR2):c.637C>T (p.Arg213Ter) | BMPR2 | Pathogenic | 2 | 203383560 | 203383560 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10602824 |
single nucleotide variant | NM_001204.7(BMPR2):c.1789C>T (p.Arg597Ter) | BMPR2 | Pathogenic | 2 | 203420177 | 203420177 | C | T | criteria provided, single submitter | ClinGen:CA10588330 |
Deletion | NM_001204.7(BMPR2):c.1125_1128+16del | BMPR2 | Pathogenic | 2 | 203395674 | 203395693 | GCGAGGTGAGTGTATACAAAA | G | criteria provided, single submitter | ClinGen:CA10581912 |
single nucleotide variant | NM_001204.7(BMPR2):c.901T>C (p.Ser301Pro) | BMPR2 | Likely pathogenic | 2 | 203384858 | 203384858 | T | C | criteria provided, single submitter | ClinGen:CA10576586 |
single nucleotide variant | NM_001204.7(BMPR2):c.1276G>C (p.Gly426Arg) | BMPR2 | Likely pathogenic | 2 | 203397455 | 203397455 | G | C | criteria provided, single submitter | ClinGen:CA351929 |
single nucleotide variant | NM_001204.7(BMPR2):c.439C>T (p.Arg147Ter) | BMPR2 | Pathogenic | 2 | 203378462 | 203378462 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA351778 |
single nucleotide variant | NM_001204.7(BMPR2):c.1459G>T (p.Asp487Tyr) | BMPR2 | Likely pathogenic | 2 | 203417484 | 203417484 | G | T | criteria provided, single submitter | ClinGen:CA324334 |
single nucleotide variant | NM_001204.7(BMPR2):c.1128+1G>A | BMPR2 | Pathogenic | 2 | 203395678 | 203395678 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA322054 |