Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NM_004329.3(BMPR1A):c.67G>A (p.Gly23Arg) | BMPR1A | Likely pathogenic | 10 | 88635842 | 88635842 | G | A | criteria provided, single submitter | ClinGen:CA377774875 |
Indel | NM_004329.3(BMPR1A):c.1243_1244delinsTTTC (p.Glu415fs) | BMPR1A | Likely pathogenic | 10 | 88681353 | 88681354 | GA | TTTC | criteria provided, single submitter | ClinGen:CA16619011 |
Deletion | NM_001406583.1(BMPR1A):c.676-6del | BMPR1A | Likely pathogenic | 10 | 88676890 | 88676890 | AG | A | criteria provided, single submitter | ClinGen:CA16619003 |
Duplication | NM_004329.3(BMPR1A):c.143dup (p.Thr49fs) | BMPR1A | Likely pathogenic | 10 | 88649893 | 88649894 | G | GT | criteria provided, single submitter | ClinGen:CA16618997 |
single nucleotide variant | NM_004329.3(BMPR1A):c.675+1G>C | BMPR1A | Likely pathogenic | 10 | 88672142 | 88672142 | G | C | criteria provided, single submitter | ClinGen:CA10582746 |
single nucleotide variant | NM_004329.3(BMPR1A):c.1037A>G (p.His346Arg) | BMPR1A | Likely pathogenic | 10 | 88679097 | 88679097 | A | G | criteria provided, single submitter | ClinGen:CA168682 |
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 |
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 |