| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant +2 more) | Age related macular degeneration 14 +4 more | GConflicting classifications of pathogenicity |
| | C2, C2-AS1 (E318D +3 more) | Single nucleotide variant (missense variant +1 more) | Complement component 2 deficiency +3 more | |
| | | Single nucleotide variant (missense variant) | Complement factor b deficiency +8 more | |
| | | Single nucleotide variant (missense variant) | Age related macular degeneration 14 +7 more | |
Click to view in NCBI Gene