Links from Orgtrack
Items: 10
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Hereditary angioedema type 3 +1 more | |
| | | Insertion (frameshift variant) | Hereditary angioedema type 1 | |
| | | Single nucleotide variant (nonsense) | Hereditary angioedema type 1 | |
| | | Deletion (frameshift variant) | Hereditary angioedema type 1 | |
| | | Single nucleotide variant (splice acceptor variant) | Hereditary angioedema type 1 | |
| | | Duplication (frameshift variant) | Hereditary angioedema type 1 | |
| | | Microsatellite (frameshift variant) | Hereditary angioedema type 1 | |
| | | Deletion (frameshift variant) | Hereditary angioedema type 1 | |
| | | Single nucleotide variant (missense variant) | Hereditary angioedema type 3 +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Hereditary angioedema type 1 | |
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