| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant) | Factor XII deficiency disease +4 more | |
| | | Single nucleotide variant (missense variant) | Hereditary angioedema type 3 +3 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant | Hereditary angioneurotic edema +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant | Hereditary angioneurotic edema +2 more | |
Click to view in NCBI Gene