| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Duplication | not provided | |
| | | Single nucleotide variant (missense variant) | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | Factor H deficiency | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Microsatellite (intron variant) | Basal laminar drusen | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Deletion (inframe_deletion) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
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