| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | not provided +2 more | |
| | | Microsatellite (frameshift variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Indel (frameshift variant) | Complement component 9 deficiency +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Complement component 9 deficiency +2 more | |
| | | Single nucleotide variant (missense variant) | Age related macular degeneration 15 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Complement component 9 deficiency +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene