single nucleotide variant | NM_001204.7(BMPR2):c.2752C>T (p.Gln918Ter) | BMPR2 | Pathogenic | 2 | 203421140 | 203421140 | C | T | criteria provided, single submitter | ClinGen:CA350349629 |
single nucleotide variant | NM_001204.7(BMPR2):c.2695C>T (p.Arg899Ter) | BMPR2 | Pathogenic | 2 | 203421083 | 203421083 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA278069,OMIM:600799.0002 |
single nucleotide variant | NM_001204.7(BMPR2):c.2617C>T (p.Arg873Ter) | BMPR2 | Pathogenic/Likely pathogenic | 2 | 203421005 | 203421005 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA278086,OMIM:600799.0012 |
Deletion | NM_001204.7(BMPR2):c.2580del (p.Asn861fs) | BMPR2 | Pathogenic | 2 | 203420967 | 203420967 | AT | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA645293960,OMIM:600799.0001 |
Deletion | NM_001204.7(BMPR2):c.2216del (p.Pro739fs) | BMPR2 | Pathogenic | 2 | 203420603 | 203420603 | GC | G | criteria provided, multiple submitters, no conflicts | - |
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 |
single nucleotide variant | NM_001204.7(BMPR2):c.1771C>T (p.Arg591Ter) | BMPR2 | Pathogenic/Likely pathogenic | 2 | 203420159 | 203420159 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA2061449 |
single nucleotide variant | NM_001204.7(BMPR2):c.1750C>T (p.Arg584Ter) | BMPR2 | Pathogenic | 2 | 203420138 | 203420138 | C | T | criteria provided, single submitter | ClinGen:CA350346158 |
Deletion | NM_001204.7(BMPR2):c.1536del (p.Lys512fs) | BMPR2 | Pathogenic | 2 | 203417559 | 203417559 | CA | C | criteria provided, single submitter | - |
single nucleotide variant | NM_001204.7(BMPR2):c.1525G>T (p.Glu509Ter) | BMPR2 | Pathogenic | 2 | 203417550 | 203417550 | G | T | criteria provided, single submitter | ClinGen:CA350344812 |