NM_000186.4(CFH):c.1873G>T (p.Glu625Ter)Pathogenic
not provided|Age related macular degeneration 4;Hemolytic uremic syndrome, atypical, susceptibility to, 1;Basal laminar drusen;Factor H deficiency|Factor H deficiency|Atypical hemolytic-uremic syndrome|Malignant tumor of urinary bladder
β
β
ββ2025β Residue 625
NM_000186.4(CFH):c.213G>A (p.Trp71Ter)Pathogenic
not provided|Factor H deficiency;Age related macular degeneration 4;Hemolytic uremic syndrome, atypical, susceptibility to, 1;Basal laminar drusen|Factor H deficiency|CFH-related disorder|Atypical hemolytic-uremic syndrome
β
β
ββ2025β Residue 71
NM_000186.4(CFH):c.157C>T (p.Arg53Cys)Pathogenic
not provided|Hemolytic uremic syndrome, atypical, susceptibility to, 1|Factor H deficiency;Hemolytic uremic syndrome, atypical, susceptibility to, 1;Age related macular degeneration 4;Basal laminar drusen|Factor H deficiency|Factor H deficiency;Atypical hemolytic-uremic syndrome;Age related macular degeneration 4
β
β
ββ2025β Residue 53
NM_000186.4(CFH):c.619+1G>APathogenic
not provided|Basal laminar drusen;Atypical hemolytic-uremic syndrome
β
β
ββ2025
NM_000186.4(CFH):c.694C>T (p.Arg232Ter)Pathogenic
not provided|Factor H deficiency|Atypical hemolytic-uremic syndrome;Basal laminar drusen;Factor H deficiency
β
β
ββ2025β Residue 232
NM_000186.4(CFH):c.1707C>A (p.Cys569Ter)Pathogenic
Atypical hemolytic-uremic syndrome|not provided
β
β
ββ2025β Residue 569
NM_000186.4(CFH):c.3643C>T (p.Arg1215Ter)Pathogenic
Age related macular degeneration 4;Hemolytic uremic syndrome, atypical, susceptibility to, 1;Factor H deficiency;Basal laminar drusen|Atypical hemolytic-uremic syndrome
β
β
ββ2025β Residue 1215
NM_000186.4(CFH):c.1243del (p.Ala415fs)Pathogenic
not provided|Atypical hemolytic-uremic syndrome;Basal laminar drusen
β
β
ββ2025β Residue 415
NM_000186.4(CFH):c.3572C>T (p.Ser1191Leu)Pathogenic
Hemolytic uremic syndrome, atypical, susceptibility to, 1|not provided|Age related macular degeneration 4;Hemolytic uremic syndrome, atypical, susceptibility to, 1;Factor H deficiency;Basal laminar drusen|Factor H deficiency|CFH-related disorder|Atypical hemolytic-uremic syndrome
β
β
ββ2025β Residue 1191
NM_000186.4(CFH):c.3356A>G (p.Asp1119Gly)Likely pathogenic
not provided|Atypical hemolytic-uremic syndrome
β
β
ββ2025β Residue 1119
NM_000186.4(CFH):c.1833C>A (p.Cys611Ter)Pathogenic
Basal laminar drusen;Atypical hemolytic-uremic syndrome;Factor H deficiency;Age related macular degeneration 4|not provided
β
β
ββ2025β Residue 611
NM_000186.4(CFH):c.3644G>T (p.Arg1215Leu)Likely pathogenic
Atypical hemolytic-uremic syndrome
β
β
ββ2025β Residue 1215
NM_000186.4(CFH):c.3676C>T (p.Pro1226Ser)Pathogenic
not provided|Atypical hemolytic-uremic syndrome
β
β
ββ2025β Residue 1226
NM_000186.4(CFH):c.1520-1G>APathogenic
not provided|Atypical hemolytic-uremic syndrome
β
β
ββ2025
NM_000186.4(CFH):c.3548G>T (p.Trp1183Leu)Pathogenic
Factor H deficiency|Atypical hemolytic-uremic syndrome;Factor H deficiency
β
β
ββ2025β Residue 1183
NM_000186.4(CFH):c.3493+1G>APathogenic
not provided|Atypical hemolytic-uremic syndrome|Atypical hemolytic-uremic syndrome;Factor H deficiency
β
β
ββ2025
NM_000186.4(CFH):c.3646ACA[1] (p.Thr1217del)Likely pathogenic
not provided|Atypical hemolytic-uremic syndrome
β
β
ββ2025β Residue 1217
NM_000186.4(CFH):c.740del (p.Gly247fs)Likely pathogenic
not provided|Basal laminar drusen;Atypical hemolytic-uremic syndrome;Factor H deficiency;Age related macular degeneration 4
β
β
ββ2025β Residue 247
NM_000186.4(CFH):c.1337-2A>GLikely pathogenic
Age related macular degeneration 4;Basal laminar drusen;Hemolytic uremic syndrome, atypical, susceptibility to, 1;Factor H deficiency|not provided
β
β
ββ2025
NM_000186.4(CFH):c.139del (p.Gln47fs)Likely pathogenic
Hemolytic uremic syndrome, atypical, susceptibility to, 1;Basal laminar drusen;Age related macular degeneration 4;Factor H deficiency|not provided
β
β
ββ2025β Residue 47