Variants
BMPR1A variants
The 36 BMPR1A variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| c.67+1G>A | Intron 3 | 86,876,086 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.431-1G>C | Intron 6 | 86,900,026 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.676-1G>C | Intron 8 | 86,917,133 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1166+2T>C | Intron 10 | 86,919,471 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1343-2A>G | Intron 11 | 86,923,374 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| C376Wfs*5 | c.1127dup | Exon 10 | 86,919,429 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D38Rfs*33 | c.111dup | Exon 4 | 86,890,104 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E88X | c.262G>T | Exon 5 | 86,892,158 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| F83Hfs*6 | c.247_251del | Exon 5 | 86,892,138 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G47X | c.139G>T | Exon 4 | 86,890,133 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| H312Mfs*10 | c.934del | Exon 10 | 86,919,235 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| K43Mfs*3 | c.128_137del | Exon 4 | 86,890,114 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| K419X | c.1255A>T | Exon 11 | 86,921,608 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L59Ffs*12 | c.176dup | Exon 4 | 86,890,164 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L59X | c.176T>A | Exon 4 | 86,890,170 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L193Ffs*5 | c.578dup | Exon 8 | 86,912,284 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L317Mfs*4 | c.949_952del | Exon 10 | 86,919,248 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| N73X | c.216dup | Exon 4 | 86,890,208 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| P136Tfs*13 | c.405dup | Exon 6 | 86,899,863 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| P465Rfs*33 | c.1394del | Exon 12 | 86,923,425 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q117X | c.349C>T | Exon 6 | 86,899,809 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q132X | c.394C>T | Exon 6 | 86,899,854 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R119C | c.355C>T | Exon 6 | 86,899,815 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R152X | c.454C>T | Exon 7 | 86,900,050 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R228X | c.682C>T | Exon 9 | 86,917,140 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R273X | c.817C>T | Exon 9 | 86,917,275 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R361X | c.1081C>T | Exon 10 | 86,919,384 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R480W | c.1438C>T | Exon 12 | 86,923,471 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R494X | c.1480C>T | Exon 13 | 86,923,600 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S184X | c.551C>G | Exon 8 | 86,912,260 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| T121Qfs*2 | c.360del | Exon 6 | 86,899,818 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| T309Lfs*13 | c.924del | Exon 10 | 86,919,225 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| W438X | c.1314G>A | Exon 11 | 86,921,667 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Y176X | c.528C>A | Exon 7 | 86,900,124 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Y278X | c.834C>G | Exon 9 | 86,917,292 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Y425X | c.1275C>A | Exon 11 | 86,921,628 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |