| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Complement component 6 deficiency +2 more | |
| | | Single nucleotide variant (nonsense) | Type II complement component 8 deficiency +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene