| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | SERPINA1-related condition +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Chronic obstructive pulmonary disease +7 more | |
| | | Single nucleotide variant (nonsense) | Alpha-1-antitrypsin deficiency | |
Click to view in NCBI Gene