single nucleotide variant | NM_000020.3(ACVRL1):c.200G>A (p.Arg67Gln) | ACVRL1 | Pathogenic/Likely pathogenic | 12 | 52307021 | 52307021 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA325011,UniProtKB:P37023#VAR_006206 |
single nucleotide variant | NM_000020.3(ACVRL1):c.206G>T (p.Cys69Phe) | ACVRL1 | Pathogenic/Likely pathogenic | 12 | 52307027 | 52307027 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA384897900 |
Duplication | NM_000020.3(ACVRL1):c.237dup (p.Arg80fs) | ACVRL1 | Pathogenic | 12 | 52307053 | 52307054 | A | AG | criteria provided, single submitter | - |
single nucleotide variant | NM_000020.3(ACVRL1):c.264C>G (p.Tyr88Ter) | ACVRL1 | Pathogenic | 12 | 52307085 | 52307085 | C | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000020.3(ACVRL1):c.265T>C (p.Cys89Arg) | ACVRL1 | Pathogenic/Likely pathogenic | 12 | 52307086 | 52307086 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA384898033 |
single nucleotide variant | NM_000020.3(ACVRL1):c.265T>G (p.Cys89Gly) | ACVRL1 | Likely pathogenic | 12 | 52307086 | 52307086 | T | G | criteria provided, single submitter | ClinGen:CA384898032 |
single nucleotide variant | NM_000020.3(ACVRL1):c.267C>G (p.Cys89Trp) | ACVRL1 | Likely pathogenic | 12 | 52307088 | 52307088 | C | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000020.3(ACVRL1):c.269G>A (p.Cys90Tyr) | ACVRL1 | Pathogenic/Likely pathogenic | 12 | 52307090 | 52307090 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA320646 |
single nucleotide variant | NM_000020.3(ACVRL1):c.269G>T (p.Cys90Phe) | ACVRL1 | Pathogenic/Likely pathogenic | 12 | 52307090 | 52307090 | G | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000020.3(ACVRL1):c.270C>A (p.Cys90Ter) | ACVRL1 | Pathogenic/Likely pathogenic | 12 | 52307091 | 52307091 | C | A | criteria provided, multiple submitters, no conflicts | - |