Deletion | NM_004329.3(BMPR1A):c.961del (p.Phe320_Leu321insTer) | BMPR1A | Pathogenic | 10 | 88679020 | 88679020 | TC | T | criteria provided, single submitter | ClinGen:CA658657988,OMIM:601299.0004 |
Duplication | NM_004329.3(BMPR1A):c.957dup (p.Phe320fs) | BMPR1A | Pathogenic | 10 | 88679016 | 88679017 | A | AC | criteria provided, single submitter | ClinGen:CA658657987 |
Deletion | NM_004329.3(BMPR1A):c.934del (p.His312fs) | BMPR1A | Pathogenic | 10 | 88678993 | 88678993 | AC | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16612982 |
Duplication | NM_004329.3(BMPR1A):c.917_920dup (p.Ile308fs) | BMPR1A | Pathogenic | 10 | 88678975 | 88678976 | C | CTATT | criteria provided, single submitter | ClinGen:CA16613203 |
single nucleotide variant | NM_004329.3(BMPR1A):c.910C>T (p.Gln304Ter) | BMPR1A | Pathogenic | 10 | 88678970 | 88678970 | C | T | criteria provided, single submitter | ClinGen:CA377460001 |
Indel | NM_004329.3(BMPR1A):c.884delinsGTTCATAGCGG (p.Asp295delinsGlySerTer) | BMPR1A | Pathogenic | 10 | 88678944 | 88678944 | A | GTTCATAGCGG | criteria provided, single submitter | ClinGen:CA10578889 |
Duplication | NM_004329.3(BMPR1A):c.874dup (p.Ile292fs) | BMPR1A | Pathogenic | 10 | 88678933 | 88678934 | C | CA | criteria provided, single submitter | ClinGen:CA658657986 |
Deletion | NM_004329.3(BMPR1A):c.869-2_871del | BMPR1A | Likely pathogenic | 10 | 88678927 | 88678931 | CAGGTT | C | criteria provided, single submitter | - |
Deletion | NC_000010.11:g.(?_86912230)_(86917336_?)del | BMPR1A | Pathogenic | 10 | 88671987 | 88677093 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_004329.3(BMPR1A):c.868+1G>A | BMPR1A | Likely pathogenic | 10 | 88677084 | 88677084 | G | A | criteria provided, multiple submitters, no conflicts | - |