Duplication | NM_000295.5(SERPINA1):c.866dup (p.Asn289fs) | SERPINA1 | Pathogenic/Likely pathogenic | 14 | 94847258 | 94847259 | A | AT | criteria provided, multiple submitters, no conflicts | ClinGen:CA645509532 |
single nucleotide variant | NM_000295.5(SERPINA1):c.538C>T (p.Gln180Ter) | SERPINA1 | Pathogenic/Likely pathogenic | 14 | 94849037 | 94849037 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA348651 |
single nucleotide variant | NM_000295.5(SERPINA1):c.552C>G (p.Tyr184Ter) | SERPINA1 | Pathogenic/Likely pathogenic | 14 | 94849023 | 94849023 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA274042 |
single nucleotide variant | NM_000295.5(SERPINA1):c.646+1G>T | SERPINA1 | Pathogenic/Likely pathogenic | 14 | 94848928 | 94848928 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA274333,OMIM:107400.0038 |
Duplication | NM_000295.5(SERPINA1):c.1158dup (p.Glu387fs) | SERPINA1 | Pathogenic/Likely pathogenic | 14 | 94844884 | 94844885 | C | CG | criteria provided, multiple submitters, no conflicts | ClinGen:CA274031,ClinVar:626305 |
single nucleotide variant | NM_000295.4(SERPINA1):c.721A>T (p.Lys241Ter) | SERPINA1 | Pathogenic/Likely pathogenic | 14 | 94847404 | 94847404 | T | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA127693,OMIM:107400.0021 |
single nucleotide variant | NM_001127701.1(SERPINA1):c.187C>T (p.Arg63Cys) | SERPINA1 | Pathogenic/Likely pathogenic | 14 | 94849388 | 94849388 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA325650,UniProtKB:P01009#VAR_006981,OMIM:107400.0018,ClinVar:219354 |
single nucleotide variant | NM_001127701.1(SERPINA1):c.194T>C (p.Leu65Pro) | SERPINA1 | Pathogenic/Likely pathogenic | 14 | 94849381 | 94849381 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA127686,UniProtKB:P01009#VAR_006982,OMIM:107400.0016 |
single nucleotide variant | NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu) | SERPINA1 | Pathogenic/Likely pathogenic | 14 | 94844865 | 94844865 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA127662,UniProtKB:P01009#VAR_007009,OMIM:107400.0014 |
single nucleotide variant | NM_000295.5(SERPINA1):c.244G>C (p.Ala82Pro) | SERPINA1 | Pathogenic | 14 | 94849331 | 94849331 | C | G | criteria provided, single submitter | - |