single nucleotide variant | NM_000020.3(ACVRL1):c.1232G>C (p.Arg411Pro) | ACVRL1 | Pathogenic | 12 | 52310003 | 52310003 | G | C | criteria provided, single submitter | ClinGen:CA119413,UniProtKB:P37023#VAR_026808,OMIM:601284.0015 |
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.1157G>A (p.Arg386His) | ACVRL1 | Likely pathogenic | 12 | 52309928 | 52309928 | G | A | criteria provided, single submitter | ClinGen:CA211329 |
Duplication | NM_000020.3(ACVRL1):c.145dup (p.Ala49fs) | ACVRL1 | Pathogenic | 12 | 52306960 | 52306961 | C | CG | criteria provided, multiple submitters, no conflicts | ClinGen:CA319771 |
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 |
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.269G>A (p.Cys90Tyr) | ACVRL1 | Pathogenic/Likely pathogenic | 12 | 52307090 | 52307090 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA320646 |
Deletion | NM_000020.3(ACVRL1):c.406_409del (p.Gly136fs) | ACVRL1 | Pathogenic/Likely pathogenic | 12 | 52307433 | 52307436 | CTGGG | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA321394 |
single nucleotide variant | NM_000020.3(ACVRL1):c.430C>T (p.Arg144Ter) | ACVRL1 | Pathogenic | 12 | 52307459 | 52307459 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA321605 |
single nucleotide variant | NM_000020.3(ACVRL1):c.986G>A (p.Arg329His) | ACVRL1 | Pathogenic/Likely pathogenic | 12 | 52309222 | 52309222 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA321832 |