| | LOC126861920, LOC126861921 +3280 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130056672, LOC130056673 +1071 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Deletion | PI NULL(RIEDENBURG) | |
| | | Single nucleotide variant | Alpha-1-antitrypsin deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-1-antitrypsin deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-1-antitrypsin deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-1-antitrypsin deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-1-antitrypsin deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-1-antitrypsin deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-1-antitrypsin deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-1-antitrypsin deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-1-antitrypsin deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-1-antitrypsin deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-1-antitrypsin deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-1-antitrypsin deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-1-antitrypsin deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-1-antitrypsin deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-1-antitrypsin deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-1-antitrypsin deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-1-antitrypsin deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-1-antitrypsin deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-1-antitrypsin deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-1-antitrypsin deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-1-antitrypsin deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-1-antitrypsin deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-1-antitrypsin deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-1-antitrypsin deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-1-antitrypsin deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-1-antitrypsin deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-1-antitrypsin deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-1-antitrypsin deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-1-antitrypsin deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-1-antitrypsin deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-1-antitrypsin deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-1-antitrypsin deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-1-antitrypsin deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-1-antitrypsin deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-1-antitrypsin deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-1-antitrypsin deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-1-antitrypsin deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-1-antitrypsin deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-1-antitrypsin deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-1-antitrypsin deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-1-antitrypsin deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-1-antitrypsin deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-1-antitrypsin deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-1-antitrypsin deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-1-antitrypsin deficiency +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-1-antitrypsin deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-1-antitrypsin deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-1-antitrypsin deficiency | |
| | | Deletion (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | SERPINA1-related condition | |
| | | Single nucleotide variant (3 prime UTR variant) | SERPINA1-related condition +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Alpha-1-antitrypsin deficiency | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Alpha-1-antitrypsin deficiency | |
| | | Single nucleotide variant (missense variant) | Alpha-1-antitrypsin deficiency | |
| | | Single nucleotide variant (synonymous variant) | Alpha-1-antitrypsin deficiency | |
| | | Single nucleotide variant (missense variant) | Alpha-1-antitrypsin deficiency | |
| | | Single nucleotide variant (synonymous variant) | Alpha-1-antitrypsin deficiency +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Deletion (frameshift variant) | Alpha-1-antitrypsin deficiency | |
| | | Single nucleotide variant (synonymous variant) | Alpha-1-antitrypsin deficiency | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Alpha-1-antitrypsin deficiency | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | SERPINA1-related condition +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Alpha-1-antitrypsin deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Alpha-1-antitrypsin deficiency | |
| | | Duplication (frameshift variant) | Alpha-1-antitrypsin deficiency | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | SERPINA1-related condition +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | SERPINA1-related condition +1 more | |
| | | Deletion (frameshift variant) | Alpha-1-antitrypsin deficiency | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Indel (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | SERPINA1-related condition +1 more | |
| | | Single nucleotide variant (synonymous variant) | Alpha-1-antitrypsin deficiency | |
| | | Single nucleotide variant (missense variant) | Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Alpha-1-antitrypsin deficiency | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Alpha-1-antitrypsin deficiency | |
| | | Duplication (frameshift variant) | Alpha-1-antitrypsin deficiency | |
| | | Single nucleotide variant (missense variant) | PI NULL(MATTAWA) | |
| | | Single nucleotide variant (synonymous variant) | Alpha-1-antitrypsin deficiency | |
| | | Single nucleotide variant (missense variant) | Alpha-1-antitrypsin deficiency | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Alpha-1-antitrypsin deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases | |
| | | Indel (frameshift variant) | Alpha-1-antitrypsin deficiency | GPathogenic/Likely pathogenic |