Duplication | NM_004329.3(BMPR1A):c.1245_1246dup (p.Ser416fs) | BMPR1A | Pathogenic | 10 | 88681353 | 88681354 | G | GAA | criteria provided, single submitter | ClinGen:CA658657991 |
Indel | NM_004329.3(BMPR1A):c.1243_1244delinsTTTC (p.Glu415fs) | BMPR1A | Likely pathogenic | 10 | 88681353 | 88681354 | GA | TTTC | criteria provided, single submitter | ClinGen:CA16619011 |
single nucleotide variant | NM_004329.3(BMPR1A):c.1221C>G (p.Tyr407Ter) | BMPR1A | Pathogenic/Likely pathogenic | 10 | 88681331 | 88681331 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA377461997 |
Deletion | NM_004329.3(BMPR1A):c.1101del (p.Asn367fs) | BMPR1A | Pathogenic | 10 | 88679161 | 88679161 | AC | A | criteria provided, single submitter | ClinGen:CA658657990 |
single nucleotide variant | NM_004329.3(BMPR1A):c.1081C>T (p.Arg361Ter) | BMPR1A | Pathogenic | 10 | 88679141 | 88679141 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA186249 |
Deletion | NM_004329.3(BMPR1A):c.1065del (p.Lys355fs) | BMPR1A | Pathogenic | 10 | 88679125 | 88679125 | AG | A | criteria provided, single submitter | - |
Deletion | NM_004329.3(BMPR1A):c.1061del (p.Gly354fs) | BMPR1A | Pathogenic | 10 | 88679120 | 88679120 | AG | A | criteria provided, single submitter | ClinGen:CA658657989 |
Duplication | NM_004329.3(BMPR1A):c.1058_1059dup (p.Gly354fs) | BMPR1A | Pathogenic | 10 | 88679117 | 88679118 | C | CAA | criteria provided, single submitter | ClinGen:CA645369465 |
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.1021G>T (p.Gly341Cys) | BMPR1A | Likely pathogenic | 10 | 88679081 | 88679081 | G | T | criteria provided, single submitter | ClinGen:CA377460608 |