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_000020.3(ACVRL1):c.145del (p.Ala49fs) | ACVRL1 | Pathogenic | 12 | 52306961 | 52306961 | CG | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000020.3(ACVRL1):c.143G>A (p.Gly48Glu) | ACVRL1 | Pathogenic/Likely pathogenic | 12 | 52306964 | 52306964 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA270765,OMIM:601284.0005 |
single nucleotide variant | NM_000020.3(ACVRL1):c.148T>C (p.Trp50Arg) | ACVRL1 | Likely pathogenic | 12 | 52306969 | 52306969 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA384897700 |
single nucleotide variant | NM_000020.3(ACVRL1):c.150G>T (p.Trp50Cys) | ACVRL1 | Pathogenic | 12 | 52306971 | 52306971 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA254373,UniProtKB:P37023#VAR_006204,OMIM:601284.0004 |
single nucleotide variant | NM_000020.3(ACVRL1):c.152G>A (p.Cys51Tyr) | ACVRL1 | Pathogenic | 12 | 52306973 | 52306973 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA324720,UniProtKB:P37023#VAR_006205 |
Deletion | NM_000020.3(ACVRL1):c.183del (p.Arg61fs) | ACVRL1 | Pathogenic | 12 | 52307003 | 52307003 | AG | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16613747 |
Deletion | NM_000020.3(ACVRL1):c.190del (p.Gln64fs) | ACVRL1 | Pathogenic | 12 | 52307007 | 52307007 | AC | A | criteria provided, single submitter | ClinGen:CA16614036 |
single nucleotide variant | NM_000020.3(ACVRL1):c.190C>T (p.Gln64Ter) | ACVRL1 | Pathogenic | 12 | 52307011 | 52307011 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000020.3(ACVRL1):c.199C>T (p.Arg67Trp) | ACVRL1 | Pathogenic/Likely pathogenic | 12 | 52307020 | 52307020 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA384897887 |