single nucleotide variant | NM_000295.5(SERPINA1):c.1A>G (p.Met1Val) | SERPINA1 | Likely pathogenic | 14 | 94849574 | 94849574 | T | C | criteria provided, single submitter | ClinGen:CA16041711 |
single nucleotide variant | NM_000295.5(SERPINA1):c.21G>A (p.Trp7Ter) | SERPINA1 | Likely pathogenic | 14 | 94849554 | 94849554 | C | T | criteria provided, single submitter | ClinGen:CA16041710 |
single nucleotide variant | NM_000295.5(SERPINA1):c.186C>A (p.Tyr62Ter) | SERPINA1 | Likely pathogenic | 14 | 94849389 | 94849389 | G | T | criteria provided, single submitter | ClinGen:CA7327531 |
single nucleotide variant | NM_000295.5(SERPINA1):c.646+2T>C | SERPINA1 | Likely pathogenic | 14 | 94848927 | 94848927 | A | G | criteria provided, single submitter | ClinGen:CA7327455 |
Deletion | NM_000295.5(SERPINA1):c.714del (p.Thr239fs) | SERPINA1 | Likely pathogenic | 14 | 94847411 | 94847411 | TG | T | criteria provided, single submitter | ClinGen:CA16041709 |
Deletion | NM_000295.5(SERPINA1):c.1018del (p.Ala340fs) | SERPINA1 | Likely pathogenic | 14 | 94845848 | 94845848 | GC | G | criteria provided, single submitter | ClinGen:CA16041708 |
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 |
Indel | NM_000295.5(SERPINA1):c.1108_1115delinsAAAAACA (p.Glu370fs) | SERPINA1 | Pathogenic | 14 | 94844928 | 94844935 | GCAGCTTC | TGTTTTT | criteria provided, multiple submitters, no conflicts | ClinGen:CA348973 |
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 |