| | LOC129993082, LOC129993083
+661 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (intron variant) | Atypical hemolytic-uremic syndrome with I factor anomaly +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Atypical hemolytic-uremic syndrome with I factor anomaly +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Atypical hemolytic-uremic syndrome with I factor anomaly +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not specified +2 more | |
| | | Single nucleotide variant (stop lost +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Duplication (frameshift variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Atypical hemolytic-uremic syndrome with I factor anomaly | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Age related macular degeneration 13 +3 more | |
| | | Microsatellite (frameshift variant +2 more) | not provided | |
| | | Deletion (frameshift variant +2 more) | CFI-related disorder | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Deletion (frameshift variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +2 more) | Age related macular degeneration 13 +2 more | |
| | | Single nucleotide variant (nonsense +2 more) | Atypical hemolytic-uremic syndrome with I factor anomaly | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (nonsense +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not specified +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | Atypical hemolytic-uremic syndrome with I factor anomaly +4 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (nonsense +2 more) | Atypical hemolytic-uremic syndrome with I factor anomaly | |
| | | Single nucleotide variant (missense variant +2 more) | Atypical hemolytic-uremic syndrome with I factor anomaly | |
| | | Single nucleotide variant (missense variant +2 more) | Atypical hemolytic-uremic syndrome with I factor anomaly | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Age related macular degeneration 13 +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Atypical hemolytic-uremic syndrome with I factor anomaly | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Atypical hemolytic-uremic syndrome with I factor anomaly | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Factor I deficiency +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | CFI-related disorder | |
| | | Deletion (frameshift variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Atypical hemolytic-uremic syndrome with I factor anomaly +3 more | |
| | | Microsatellite (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | Factor I deficiency +3 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Atypical hemolytic-uremic syndrome with I factor anomaly +4 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Atypical hemolytic-uremic syndrome with I factor anomaly | |
| | | Single nucleotide variant (splice donor variant) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | CFI-related disorder +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |