| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | See cases +6 more | |
| | | Deletion | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | |
| | | Single nucleotide variant (missense variant) | CFH-related disorder +5 more | |
| | | Single nucleotide variant (missense variant) | Factor H deficiency +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Basal laminar drusen +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Atypical hemolytic-uremic syndrome with I factor anomaly +6 more | |
| | | Single nucleotide variant (missense variant) | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | |
| | | Single nucleotide variant (synonymous variant) | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | |
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