NM_000064.4(C3):c.373dup (p.Leu125fs)Pathogenic
not provided|Atypical hemolytic-uremic syndrome with C3 anomaly;Complement component 3 deficiency;Age related macular degeneration 9
β
β
ββ2026β Residue 125
NM_000064.4(C3):c.4030-2A>GLikely pathogenic
not provided|Complement component 3 deficiency
β
β
ββ2025
NM_000064.4(C3):c.1775G>A (p.Arg592Gln)Pathogenic
Atypical hemolytic-uremic syndrome with C3 anomaly|not provided|Familial Atypical Hemolytic-Uremic Syndrome|Age related macular degeneration 9;Atypical hemolytic-uremic syndrome with C3 anomaly;Complement component 3 deficiency|C3-related disorder|C3 glomerulonephritis;Atypical hemolytic-uremic syndrome
β
β
ββ2025β Residue 592
NM_000064.4(C3):c.3470T>C (p.Ile1157Thr)Pathogenic
Atypical hemolytic-uremic syndrome|not provided
β
β
ββ2025β Residue 1157
NM_000064.4(C3):c.2290C>T (p.Arg764Ter)Pathogenic
not provided|Age related macular degeneration 9;Atypical hemolytic-uremic syndrome with C3 anomaly;Complement component 3 deficiency|Complement component 3 deficiency
β
β
ββ2025β Residue 764
NM_000064.4(C3):c.481C>T (p.Arg161Trp)Pathogenic
not provided|Atypical hemolytic-uremic syndrome with C3 anomaly|Atypical hemolytic-uremic syndrome;C3 glomerulonephritis
β
β
ββ2025β Residue 161
NM_000064.4(C3):c.3737_3738del (p.Asp1245_Phe1246insTer)Pathogenic
Atypical hemolytic-uremic syndrome with C3 anomaly|not provided|Complement component 3 deficiency
β
β
ββ2025β Residue 1245
NM_000064.4(C3):c.1774C>T (p.Arg592Trp)Likely pathogenic
Familial Atypical Hemolytic-Uremic Syndrome|not provided|C3 glomerulonephritis;Atypical hemolytic-uremic syndrome
β
β
ββ2025β Residue 592
NM_000064.4(C3):c.2863+1G>TLikely pathogenic
Atypical hemolytic-uremic syndrome with C3 anomaly;Age related macular degeneration 9;Complement component 3 deficiency|not provided
β
β
ββ2025
NM_000064.4(C3):c.2825_2826del (p.Val942fs)Pathogenic
Atypical hemolytic-uremic syndrome with C3 anomaly;Age related macular degeneration 9;Complement component 3 deficiency|not provided
β
β
ββ2024β Residue 942
NM_000064.4(C3):c.3154+1G>ALikely pathogenic
not provided
β
βββ2025
NM_000064.4(C3):c.1005_1015delPathogenic
Complement component 3 deficiency
β
βββ2025
NM_000064.4(C3):c.2542C>T (p.Arg848Ter)Pathogenic
Complement component 3 deficiency
β
βββ2025β Residue 848
NM_000064.4(C3):c.4631-2A>GLikely pathogenic
C3 DEFICIENCY|Complement component 3 deficiency
β
βββ2025
NM_000064.4(C3):c.3100T>A (p.Trp1034Arg)Likely pathogenic
Atypical hemolytic-uremic syndrome
β
βββ2025β Residue 1034
NM_000064.4(C3):c.3100T>C (p.Trp1034Arg)Likely pathogenic
Atypical hemolytic-uremic syndrome
β
βββ2025β Residue 1034
NM_000064.4(C3):c.3281C>A (p.Ala1094Asp)Likely pathogenic
Atypical hemolytic-uremic syndrome
β
βββ2025β Residue 1094
NM_000064.4(C3):c.3346G>C (p.Gly1116Arg)Likely pathogenic
Atypical hemolytic-uremic syndrome
β
βββ2025β Residue 1116
NM_000064.4(C3):c.1269+5G>ALikely pathogenic
Complement component 3 deficiency
β
βββ2025
NM_000064.4(C3):c.2768_2773del (p.Asp923_Gly924del)Likely pathogenic
C3 glomerulonephritis
β
βββ2025β Residue 923