NM_172351.3(CD46):c.286+2T>GPathogenic
Atypical hemolytic-uremic syndrome|Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly|not provided|Familial Atypical Hemolytic-Uremic Syndrome
β
β
ββ2026
NM_172351.3(CD46):c.287-2A>GPathogenic
not provided|Thrombotic microangiopathy|Familial Atypical Hemolytic-Uremic Syndrome|Atypical hemolytic-uremic syndrome|Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
β
β
ββ2026
NM_172351.3(CD46):c.286+1G>CPathogenic
not provided|Atypical hemolytic-uremic syndrome|CD46-related atypical hemolytic uremic syndrome
β
β
ββ2025
NM_172351.3(CD46):c.685C>T (p.Arg229Ter)Pathogenic
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly|not provided|Atypical hemolytic-uremic syndrome|Autosomal dominant and autosomal recessive CD46-related disorders
β
β
ββ2025β Residue 229
NM_172351.3(CD46):c.175C>T (p.Arg59Ter)Pathogenic
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly|not provided|Atypical hemolytic-uremic syndrome
β
β
ββ2025β Residue 59
NM_172351.3(CD46):c.820_821del (p.Ser274fs)Pathogenic
not provided|Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly|Atypical hemolytic-uremic syndrome
β
β
ββ2025β Residue 274
NM_172351.3(CD46):c.350_351dup (p.Glu118fs)Pathogenic
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly|Atypical hemolytic-uremic syndrome
β
β
ββ2025β Residue 118
NM_172351.3(CD46):c.828G>A (p.Trp276Ter)Pathogenic
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly|Atypical hemolytic-uremic syndrome|not provided
β
β
ββ2025β Residue 276
NM_172351.3(CD46):c.350dup (p.Tyr117Ter)Pathogenic
Atypical hemolytic-uremic syndrome|not provided
β
β
ββ2025β Residue 117
NM_172351.3(CD46):c.381T>A (p.Cys127Ter)Pathogenic
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly|Atypical hemolytic-uremic syndrome
β
β
ββ2025β Residue 127
NM_172351.3(CD46):c.857-1G>ALikely pathogenic
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly|not provided
β
β
ββ2025
NM_172351.3(CD46):c.257G>A (p.Trp86Ter)Pathogenic
not provided
β
β
ββ2023β Residue 86
NM_172351.3(CD46):c.857-174A>CLikely pathogenic
not provided|CD46-related disorder
β
β
ββ2023
NM_172351.3(CD46):c.350del (p.Tyr117fs)Pathogenic
Atypical hemolytic-uremic syndrome
β
βββ2025β Residue 117
NM_172351.3(CD46):c.475+1G>ALikely pathogenic
Atypical hemolytic-uremic syndrome
β
βββ2025
NM_172351.3(CD46):c.2T>A (p.Met1Lys)Likely pathogenic
Atypical hemolytic-uremic syndrome
β
βββ2025β Residue 1
NM_172351.3(CD46):c.295T>C (p.Cys99Arg)Likely pathogenic
Atypical hemolytic-uremic syndrome
β
βββ2025β Residue 99
NM_172351.3(CD46):c.493C>T (p.Pro165Ser)Likely pathogenic
Atypical hemolytic-uremic syndrome
β
βββ2025β Residue 165
NM_172351.3(CD46):c.800_801del (p.Thr267fs)Pathogenic
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly|Atypical hemolytic-uremic syndrome
β
βββ2025β Residue 267
NM_172351.3(CD46):c.98-1G>CPathogenic
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly|Atypical hemolytic-uremic syndrome
β
βββ2025