Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Deletion | NM_004329.3(BMPR1A):c.826_827del (p.Glu276fs) | BMPR1A | Pathogenic | 10 | 88677040 | 88677041 | CAG | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA166103 |
single nucleotide variant | NM_004329.3(BMPR1A):c.1474-2A>G | BMPR1A | Likely pathogenic | 10 | 88683349 | 88683349 | A | G | criteria provided, single submitter | ClinGen:CA164082 |
Deletion | NM_004329.3(BMPR1A):c.369del (p.Glu123fs) | BMPR1A | Pathogenic | 10 | 88659585 | 88659585 | GA | G | criteria provided, single submitter | ClinGen:CA288008 |
single nucleotide variant | NM_004329.3(BMPR1A):c.370T>C (p.Cys124Arg) | BMPR1A | Pathogenic/Likely pathogenic | 10 | 88659587 | 88659587 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA194624,UniProtKB:P36894#VAR_015533,OMIM:601299.0006 |
single nucleotide variant | NM_004329.3(BMPR1A):c.1013C>A (p.Ala338Asp) | BMPR1A | Likely pathogenic | 10 | 88679073 | 88679073 | C | A | criteria provided, single submitter | ClinGen:CA254361,UniProtKB:P36894#VAR_015534,OMIM:601299.0005 |
single nucleotide variant | NM_004329.3(BMPR1A):c.812G>A (p.Trp271Ter) | BMPR1A | Pathogenic | 10 | 88677027 | 88677027 | G | A | criteria provided, single submitter | ClinGen:CA254358,OMIM:601299.0003 |