NM_000204.5(CFI):c.1450_1454del (p.Leu484fs)Pathogenic
not provided|Factor I deficiency|CFI-related disorder
★★☆☆2026→ Residue 484
NM_000204.5(CFI):c.772G>A (p.Ala258Thr)Pathogenic
not provided|Factor I deficiency|Factor I deficiency;Atypical hemolytic-uremic syndrome with I factor anomaly;Age related macular degeneration 13|CFI-related disorder|Colon adenocarcinoma
★★☆☆2026→ Residue 258
NM_000204.5(CFI):c.1176_1177dup (p.Trp393fs)Pathogenic
not provided|Factor I deficiency|Atypical hemolytic-uremic syndrome with I factor anomaly;Age related macular degeneration 13;Factor I deficiency|CFI-related disorder
★★☆☆2025→ Residue 393
NM_000204.5(CFI):c.1139A>G (p.His380Arg)Pathogenic
not provided|CFI-related disorder
★★☆☆2025→ Residue 380
NM_000204.5(CFI):c.559C>T (p.Arg187Ter)Pathogenic
Atypical hemolytic-uremic syndrome with I factor anomaly|not provided|Atypical hemolytic-uremic syndrome with I factor anomaly;Age related macular degeneration 13;Factor I deficiency|CFI-related disorder
★★☆☆2025→ Residue 187
NM_000204.5(CFI):c.1429+1G>CPathogenic
not provided|Atypical hemolytic-uremic syndrome|Atypical hemolytic-uremic syndrome with I factor anomaly;Factor I deficiency;Age related macular degeneration 13|CFI-related disorder
★★☆☆2025
NM_000204.5(CFI):c.1420C>T (p.Arg474Ter)Pathogenic
Atypical hemolytic-uremic syndrome with I factor anomaly|not provided|CFI-related disorder|Age related macular degeneration 13
★★☆☆2025→ Residue 474
NM_000204.5(CFI):c.434G>A (p.Trp145Ter)Pathogenic
not provided|CFI-related disorder
★★☆☆2025→ Residue 145
NM_000204.5(CFI):c.786del (p.Gly263fs)Pathogenic
not provided|CFI-related disorder
★★☆☆2025→ Residue 263
NM_000204.5(CFI):c.893del (p.Ser298fs)Pathogenic
not provided|Atypical hemolytic-uremic syndrome
★★☆☆2025→ Residue 298
NM_000204.5(CFI):c.111dup (p.Tyr38fs)Likely pathogenic
not provided|CFI-related disorder
★★☆☆2025→ Residue 38
NM_000204.5(CFI):c.563G>T (p.Gly188Val)Pathogenic
not provided|Factor I deficiency
★★☆☆2025→ Residue 188
NM_000204.5(CFI):c.904+1G>APathogenic
not provided|Atypical hemolytic-uremic syndrome
★★☆☆2025
NM_000204.5(CFI):c.80_81del (p.Asp27fs)Pathogenic
not provided|Atypical hemolytic-uremic syndrome|Age related macular degeneration 13;Factor I deficiency;Atypical hemolytic-uremic syndrome with I factor anomaly|CFI-related disorder
★★☆☆2025→ Residue 27
NM_000204.5(CFI):c.1149-2A>TLikely pathogenic
not provided|CFI-related disorder
★★☆☆2025
NM_000204.5(CFI):c.1006C>T (p.Arg336Ter)Pathogenic
Atypical hemolytic-uremic syndrome|not provided|CFI-related disorder
★★☆☆2025→ Residue 336
NM_000204.5(CFI):c.1233C>A (p.Tyr411Ter)Pathogenic
not provided|Factor I deficiency;Atypical hemolytic-uremic syndrome with I factor anomaly;Age related macular degeneration 13|Factor I deficiency|CFI-related disorder
★★☆☆2025→ Residue 411
NM_000204.5(CFI):c.1646del (p.Asn549fs)Pathogenic
CFI-related disorder
★★☆☆2025→ Residue 549
NM_000204.5(CFI):c.1415G>A (p.Trp472Ter)Pathogenic
not provided|Atypical hemolytic-uremic syndrome
★★☆☆2025→ Residue 472
NM_000204.5(CFI):c.764G>A (p.Cys255Tyr)Pathogenic
Factor I deficiency;Atypical hemolytic-uremic syndrome with I factor anomaly;Age related macular degeneration 13|CFI-related disorder
★★☆☆2025→ Residue 255