single nucleotide variant | NM_000020.3(ACVRL1):c.992T>C (p.Phe331Ser) | ACVRL1 | Pathogenic | 12 | 52309228 | 52309228 | T | C | criteria provided, single submitter | ClinGen:CA384901479 |
single nucleotide variant | NM_000020.3(ACVRL1):c.1413C>A (p.Cys471Ter) | ACVRL1 | Pathogenic | 12 | 52314578 | 52314578 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA384905493 |
single nucleotide variant | NM_000020.3(ACVRL1):c.1126A>G (p.Met376Val) | ACVRL1 | Pathogenic/Likely pathogenic | 12 | 52309897 | 52309897 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA384902445 |
single nucleotide variant | NM_000020.3(ACVRL1):c.1246+2T>C | ACVRL1 | Pathogenic | 12 | 52310019 | 52310019 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA384903098 |
Deletion | NM_000020.3(ACVRL1):c.105del (p.Cys36fs) | ACVRL1 | Pathogenic | 12 | 52306926 | 52306926 | CG | C | criteria provided, single submitter | ClinGen:CA658683789 |
Insertion | NM_000020.3(ACVRL1):c.139_140insCG (p.Arg47fs) | ACVRL1 | Pathogenic | 12 | 52306960 | 52306961 | C | CCG | criteria provided, multiple submitters, no conflicts | ClinGen:CA658797915 |
Deletion | NM_001204.6(BMPR2):c.(?_-63)_(76_?)+61del | BMPR2 | Pathogenic | 2 | 203242135 | 203242334 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_000020.3(ACVRL1):c.439C>T (p.Gln147Ter) | ACVRL1 | Pathogenic | 12 | 52307468 | 52307468 | C | T | criteria provided, single submitter | ClinGen:CA384898875 |
single nucleotide variant | NM_000020.3(ACVRL1):c.601C>T (p.Gln201Ter) | ACVRL1 | Pathogenic | 12 | 52307833 | 52307833 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA384899825 |
Duplication | NM_001204.7(BMPR2):c.1142_1143dup (p.Tyr382fs) | BMPR2 | Pathogenic | 2 | 203397319 | 203397320 | C | CAG | criteria provided, single submitter | ClinGen:CA658796144 |