CD46 — 559 ClinVar variants
All ClinVar germline CD46 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 262 flagged for review →
28 Pathogenic · 11 Pathogenic/Likely pathogenic · 20 Likely pathogenic · 37 Conflicting · 38 Benign · 10 Benign/Likely benign · 110 Likely benign · 305 Uncertain significance
Full CD46 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 262
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 21
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
CD46 p.Arg229Gln
Conflicting
Single submitter
atypical hemolytic-uremic syndrome
- CD46 p.Arg370Gly Conflicting Single submitter
-
CD46 p.Asp192His
Conflicting
Single submitter
kidney disorder
-
CD46 p.Asp266Asn
Conflicting
Single submitter
kidney disorder
-
CD46 p.Asp33His
Conflicting
Single submitter
atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
-
CD46 p.Cys157Arg
Conflicting
Single submitter
atypical hemolytic-uremic syndrome
-
CD46 p.Cys35Tyr
Conflicting
Single submitter
atypical hemolytic-uremic syndrome
-
CD46 p.Cys64Phe
Conflicting
Single submitter
atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
-
CD46 p.Glu179Gln
Conflicting
Single submitter
atypical hemolytic-uremic syndrome
-
CD46 p.Glu234Lys
Conflicting
Single submitter
CD46-related disorder
- CD46 p.Ile239Val Conflicting Single submitter
- CD46 p.Ile79Val Conflicting Single submitter
-
CD46 p.Leu202Phe
Conflicting
Single submitter
atypical hemolytic-uremic syndrome
-
CD46 p.Lys66Asn
Conflicting
Single submitter
atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
-
CD46 p.Met24Val
Conflicting
Single submitter
atypical hemolytic-uremic syndrome
-
CD46 p.Pro231Arg
Conflicting
Single submitter
atypical hemolytic-uremic syndrome
-
CD46 p.Pro309Leu
Conflicting
Single submitter
atypical hemolytic-uremic syndrome
-
CD46 p.Ser240Pro
Conflicting
Single submitter
CD46-related disorders
-
CD46 p.Thr368Ile
Conflicting
Single submitter
CD46-related disorder
-
CD46 p.Thr98Ile
Conflicting
Single submitter
atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
-
CD46 p.Tyr189Asp
Conflicting
Single submitter
atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
Predictors lean, ClinVar uncertain 209
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 209
-
CD46 p.Ala296Val
Uncertain significance
Multiple submitters
atypical hemolytic-uremic syndrome
-
CD46 p.Ala344Gly
Uncertain significance
Multiple submitters
atypical hemolytic-uremic syndrome
- CD46 p.Ala75Val Uncertain significance Multiple submitters
-
CD46 p.Arg218His
Uncertain significance
Multiple submitters
atypical hemolytic-uremic syndrome
-
CD46 p.Arg82Gln
Uncertain significance
Multiple submitters
atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
-
CD46 p.Arg82Trp
Uncertain significance
Multiple submitters
CD46-related disorder
- CD46 p.Asn235His Uncertain significance Multiple submitters
-
CD46 p.Asp185Asn
Uncertain significance
Multiple submitters
atypical hemolytic-uremic syndrome
-
CD46 p.Asp185Gly
Uncertain significance
Multiple submitters
atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
-
CD46 p.Cys64Tyr
Uncertain significance
Multiple submitters
atypical hemolytic-uremic syndrome
- CD46 p.Cys99Tyr Uncertain significance Multiple submitters
-
CD46 p.Glu142Gln
Uncertain significance
Multiple submitters
atypical hemolytic-uremic syndrome
-
CD46 p.Glu158Gln
Uncertain significance
Multiple submitters
atypical hemolytic-uremic syndrome
-
CD46 p.Gly130Val
Uncertain significance
Multiple submitters
atypical hemolytic-uremic syndrome
-
CD46 p.Gly135Asp
Uncertain significance
Multiple submitters
atypical hemolytic-uremic syndrome
- CD46 p.Gly259Arg Uncertain significance Multiple submitters
- CD46 p.His84Arg Uncertain significance Multiple submitters
- CD46 p.Ile102Val Uncertain significance Multiple submitters
-
CD46 p.Ile134Met
Uncertain significance
Multiple submitters
atypical hemolytic-uremic syndrome
-
CD46 p.Ile332Val
Uncertain significance
Multiple submitters
atypical hemolytic-uremic syndrome
-
CD46 p.Ile56Thr
Uncertain significance
Multiple submitters
atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
- CD46 p.Lys227Asn Uncertain significance Multiple submitters
-
CD46 p.Met24Ile
Uncertain significance
Multiple submitters
atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
- CD46 p.Met253Ile Uncertain significance Multiple submitters
-
CD46 p.Pro193Ser
Uncertain significance
Multiple submitters
atypical hemolytic-uremic syndrome
-
CD46 p.Pro195Ser
Uncertain significance
Multiple submitters
atypical hemolytic-uremic syndrome
- CD46 p.Pro197Thr Uncertain significance Multiple submitters
-
CD46 p.Pro317Ala
Uncertain significance
Multiple submitters
atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
-
CD46 p.Ser287Leu
Uncertain significance
Multiple submitters
atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
-
CD46 p.Thr163Ile
Uncertain significance
Multiple submitters
atypical hemolytic-uremic syndrome
-
CD46 p.Thr267Ala
Uncertain significance
Multiple submitters
CD46-related disorder
- CD46 p.Thr365Ile Uncertain significance Multiple submitters
-
CD46 p.Thr40Ala
Uncertain significance
Multiple submitters
atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
-
CD46 p.Val215Met
Uncertain significance
Multiple submitters
atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
- CD46 c.857-137A>C Uncertain significance Single submitter
- CD46 c.857-145C>G Uncertain significance Single submitter
-
CD46 c.857-148C>T
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome
- CD46 p.Ala110Thr Uncertain significance Single submitter
- CD46 p.Ala113Glu Uncertain significance Single submitter
- CD46 p.Ala219Val Uncertain significance Single submitter
- CD46 p.Ala220Thr Uncertain significance Single submitter
- CD46 p.Ala23Gly Uncertain significance Single submitter
- CD46 p.Ala250Thr Uncertain significance Single submitter
- CD46 p.Ala296Thr Uncertain significance Single submitter
-
CD46 p.Ala344Val
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome
-
CD46 p.Ala34Thr
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome
- CD46 p.Ala43Val Uncertain significance Single submitter
- CD46 p.Ala93Ser Uncertain significance Single submitter
- CD46 p.Ala93Val Uncertain significance Single submitter
-
CD46 p.Arg103Gln
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome
-
CD46 p.Arg103Trp
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome
- CD46 p.Arg15Pro Uncertain significance Single submitter
- CD46 p.Arg15Ser Uncertain significance Single submitter
- CD46 p.Arg218Cys Uncertain significance Single submitter
- CD46 p.Arg218Leu Uncertain significance Single submitter
- CD46 p.Arg218Pro Uncertain significance Single submitter
- CD46 p.Arg303Thr Uncertain significance Single submitter
- CD46 p.Arg59Gln Uncertain significance Single submitter
- CD46 p.Arg7Leu Uncertain significance Single submitter
- CD46 p.Asn213His Uncertain significance Single submitter
-
CD46 p.Asp104Ala
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome
-
CD46 p.Asp198Ala
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome
- CD46 p.Asp257Asn Uncertain significance Single submitter
- CD46 p.Asp257Val Uncertain significance Single submitter
- CD46 p.Asp263Asn Uncertain significance Single submitter
-
CD46 p.Asp277Ala
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome
- CD46 p.Asp328Gly Uncertain significance Single submitter
- CD46 p.Asp33Tyr Uncertain significance Single submitter
- CD46 p.Asp366Gly Uncertain significance Single submitter
-
CD46 p.Asp61Ala
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome
- CD46 p.Asp61Glu Uncertain significance Single submitter
-
CD46 p.Asp81Ala
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome
-
CD46 p.Asp91Ala
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome
-
CD46 p.Asp92Ala
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome
-
CD46 p.Cys157Tyr
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome
-
CD46 p.Cys191Ser
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome
-
CD46 p.Cys210Phe
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome
-
CD46 p.Cys223Arg
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome
- CD46 p.Cys228Tyr Uncertain significance Single submitter
- CD46 p.Cys256Arg Uncertain significance Single submitter
- CD46 p.Cys347Tyr Uncertain significance Single submitter
-
CD46 p.Cys94Tyr
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome
-
CD46 p.Glu118Ala
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome
- CD46 p.Glu118Lys Uncertain significance Single submitter
-
CD46 p.Glu129Ala
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome
-
CD46 p.Glu136Ala
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome
-
CD46 p.Glu137Ala
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome
- CD46 p.Glu137Gln Uncertain significance Single submitter
-
CD46 p.Glu142Ala
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome
-
CD46 p.Glu158Ala
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome
- CD46 p.Glu182Val Uncertain significance Single submitter
- CD46 p.Glu205Asp Uncertain significance Single submitter
-
CD46 p.Glu36Ala
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome
- CD46 p.Glu36Gly Uncertain significance Single submitter
-
CD46 p.Glu37Ala
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome
- CD46 p.Glu37Lys Uncertain significance Single submitter
-
CD46 p.Glu42Ala
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome
-
CD46 p.Glu55Ala
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome
-
CD46 p.Glu55Lys
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome
-
CD46 p.Glu97Ala
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome
-
CD46 p.Gly130Ala
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome
-
CD46 p.Gly135Ala
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome
-
CD46 p.Gly135Arg
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome
-
CD46 p.Gly152Ala
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome
- CD46 p.Gly152Ser Uncertain significance Single submitter
- CD46 p.Gly18Arg Uncertain significance Single submitter
- CD46 p.Gly236Arg Uncertain significance Single submitter
-
CD46 p.Gly241Ala
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome
-
CD46 p.Gly241Arg
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome
-
CD46 p.Gly243Ala
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome
- CD46 p.Gly361Asp Uncertain significance Single submitter
-
CD46 p.Gly5Asp
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome
- CD46 p.Gly67Arg Uncertain significance Single submitter
- CD46 p.His124Tyr Uncertain significance Single submitter
- CD46 p.His369Tyr Uncertain significance Single submitter
- CD46 p.His77Arg Uncertain significance Single submitter
- CD46 p.His84Leu Uncertain significance Single submitter
-
CD46 p.Ile126Ser
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome
-
CD46 p.Ile138Ser
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome
- CD46 p.Ile156Val Uncertain significance Single submitter
- CD46 p.Ile268Val Uncertain significance Single submitter
- CD46 p.Ile47Thr Uncertain significance Single submitter
- CD46 p.Ile56Val Uncertain significance Single submitter
-
CD46 p.Leu133Ser
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome
- CD46 p.Leu133Val Uncertain significance Single submitter
- CD46 p.Leu19Met Uncertain significance Single submitter
- CD46 p.Leu19Phe Uncertain significance Single submitter
- CD46 p.Leu20Phe Uncertain significance Single submitter
- CD46 p.Leu20Pro Uncertain significance Single submitter
-
CD46 p.Leu262Pro
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome
- CD46 p.Leu324Phe Uncertain significance Single submitter
-
CD46 p.Leu377Arg
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome
- CD46 p.Leu74Phe Uncertain significance Single submitter
- CD46 p.Lys144Gln Uncertain significance Single submitter
- CD46 p.Lys153Arg Uncertain significance Single submitter
-
CD46 p.Lys172Asn
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome
-
CD46 p.Lys282Arg
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome
-
CD46 p.Lys285Glu
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome
- CD46 p.Lys307Arg Uncertain significance Single submitter
- CD46 p.Lys358Arg Uncertain significance Single submitter
- CD46 p.Lys359Arg Uncertain significance Single submitter
- CD46 p.Met123Ile Uncertain significance Single submitter
- CD46 p.Met123Leu Uncertain significance Single submitter
- CD46 p.Met24Leu Uncertain significance Single submitter
- CD46 p.Met253Thr Uncertain significance Single submitter
- CD46 p.Met253Val Uncertain significance Single submitter
-
CD46 p.Phe175Val
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome
-
CD46 p.Phe246Cys
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
-
CD46 p.Pro10Leu
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome
- CD46 p.Pro112Leu Uncertain significance Single submitter
Predictors split 32
The independent predictors disagree with each other — read with care.
- CD46 p.Leu262Ile Uncertain significance Multiple submitters
-
CD46 p.Pro164Gln
Uncertain significance
Multiple submitters
atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
-
CD46 p.Thr207Met
Uncertain significance
Multiple submitters
CD46-related disorder
- CD46 p.Ala22Glu Uncertain significance Single submitter
- CD46 p.Arg352Ser Uncertain significance Single submitter
-
CD46 p.Asn213Ile
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome
-
CD46 p.Asp192Ala
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome
-
CD46 p.Glu45Ala
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome
-
CD46 p.Glu58Ala
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome
-
CD46 p.Gly196Ala
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome
-
CD46 p.Gly196Arg
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
-
CD46 p.Gly243Val
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome
-
CD46 p.His173Arg
Likely pathogenic
Single submitter
atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
- CD46 p.His84Pro Uncertain significance Single submitter
-
CD46 p.Ile203Phe
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
-
CD46 p.Ile203Thr
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome
- CD46 p.Ile208Thr Uncertain significance Single submitter
- CD46 p.Ile339Lys Uncertain significance Single submitter
- CD46 p.Leu324His Uncertain significance Single submitter
- CD46 p.Lys249Ile Uncertain significance Single submitter
- CD46 p.Met44Ile Uncertain significance Single submitter
-
CD46 p.Phe246Ile
Likely pathogenic
Single submitter
atypical hemolytic-uremic syndrome
- CD46 p.Pro164Arg Uncertain significance Single submitter
-
CD46 p.Pro231Ala
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome
- CD46 p.Pro350Leu Uncertain significance Single submitter
-
CD46 p.Ser274Ile
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome
- CD46 p.Ser294Cys Uncertain significance Single submitter
- CD46 p.Ser298Cys Uncertain significance Single submitter
- CD46 p.Tyr363His Uncertain significance Single submitter
-
CD46 p.Val160Phe
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome
-
CD46 p.Val233Gly
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
-
CD46 p.Ala34Val
Uncertain significance
No assertion criteria
atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
All CD46 variants
Pathogenic 28
- c.1082+2T>A Multiple submitters atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
- p.Trp276Ter Multiple submitters atypical hemolytic-uremic syndrome
- c.476-2A>G Single submitter atypical hemolytic-uremic syndrome
- c.857-148dup Single submitter
- c.857-2A>G Single submitter atypical hemolytic-uremic syndrome
- c.98-1G>C Single submitter atypical hemolytic-uremic syndrome
- c.982+2T>C Single submitter atypical hemolytic-uremic syndrome
- p.Ala93fs Single submitter
- p.Asn235fs Single submitter atypical hemolytic-uremic syndrome
- p.Asp257fs Single submitter atypical hemolytic-uremic syndrome
- p.Cys256Ter Single submitter atypical hemolytic-uremic syndrome
- p.Glu137fs Single submitter
- p.Glu42fs Single submitter atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
- p.Gly130_Tyr131insTer Single submitter
- p.Gly135fs Single submitter atypical hemolytic-uremic syndrome
- p.Ile138fs Single submitter
- p.Ile156fs Single submitter
- p.Lys153Ter Single submitter
- p.Lys245fs Single submitter atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
- p.Lys249fs Single submitter atypical hemolytic-uremic syndrome
- p.Phe69fs Single submitter atypical hemolytic-uremic syndrome
- p.Thr267fs Single submitter atypical hemolytic-uremic syndrome
- p.Thr305_Tyr306insTer Single submitter atypical hemolytic-uremic syndrome
- p.Tyr316Ter Single submitter
- p.Tyr353Ter Single submitter atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
- p.Arg303fs No assertion criteria atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
- p.Gly259fs No assertion criteria atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
- p.Val180_Phe181insTer No assertion criteria atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
Pathogenic/Likely pathogenic 11
- c.286+1G>C Multiple submitters CD46-related disorders
- c.286+2T>G Multiple submitters atypical hemolytic-uremic syndrome
- c.287-2A>G Multiple submitters thrombotic microangiopathy
- p.Ala296fs Multiple submitters atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
- p.Arg229Ter Multiple submitters Autosomal dominant and autosomal recessive CD46-related disorders
- p.Arg59Ter Multiple submitters CD46-related disorders
- p.Asp271_Ser272del Multiple submitters atypical hemolytic-uremic syndrome
- p.Glu118fs Multiple submitters atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
- p.Lys51fs Multiple submitters atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
- p.Phe242Cys Multiple submitters atypical hemolytic-uremic syndrome
- p.Trp86Ter Multiple submitters
Likely pathogenic 20
- c.1019-2A>G Single submitter atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
- c.389+1G>A Single submitter
- c.389+1G>T Single submitter
- c.673+1G>A Single submitter
- c.674-1G>A Single submitter CD46-related disorders
- c.856+2del Single submitter
- c.901+1G>A Single submitter
- c.901+2T>G Single submitter atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
- p.Asp198fs Single submitter CD46-related disorders
- p.Cys127Phe Single submitter atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
- p.Cys141Tyr Single submitter atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
- p.Cys270Trp Single submitter atypical hemolytic-uremic syndrome
- p.Gln238fs Single submitter atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
- p.Gly259Val Single submitter atypical hemolytic-uremic syndrome
- p.His173Arg Single submitter atypical hemolytic-uremic syndrome with MCP/CD46 anomaly ⚠
- p.Phe246Ile Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Pro165Ser Single submitter atypical hemolytic-uremic syndrome
- p.Pro281Ser Single submitter atypical hemolytic-uremic syndrome
- p.Tyr95fs Single submitter CD46-related disorders
- p.Tyr117Ter No assertion criteria atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
Conflicting classifications of pathogenicity 37
- c.1018+7A>G Single submitter atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
- c.1082+2T>G Single submitter Familial Atypical Hemolytic-Uremic Syndrome
- c.286+2T>C Single submitter atypical hemolytic-uremic syndrome
- c.857-174A>C Single submitter CD46-related disorder
- c.857-185T>C Single submitter atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
- c.857-1G>A Single submitter atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
- c.901+9A>G Single submitter atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
- c.902-1G>C Single submitter atypical hemolytic-uremic syndrome
- c.944-1G>C Single submitter atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
- p.Arg229Gln Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Arg370Gly Single submitter ⚠
- p.Asp192His Single submitter kidney disorder ⚠
- p.Asp266Asn Single submitter kidney disorder ⚠
- p.Asp33His Single submitter atypical hemolytic-uremic syndrome with MCP/CD46 anomaly ⚠
- p.Asp92= Single submitter atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
- p.Cys157Arg Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Cys35Tyr Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Cys64Phe Single submitter atypical hemolytic-uremic syndrome with MCP/CD46 anomaly ⚠
- p.Glu179Gln Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Glu234Lys Single submitter CD46-related disorder ⚠
- p.Ile239Val Single submitter ⚠
- p.Ile79Val Single submitter ⚠
- p.Leu202Phe Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Lys66Asn Single submitter atypical hemolytic-uremic syndrome with MCP/CD46 anomaly ⚠
- p.Met24Val Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Met44Leu Single submitter atypical hemolytic-uremic syndrome
- p.Pro231Arg Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Pro309Leu Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Pro350= Single submitter
- p.Ser201Leu Single submitter atypical hemolytic-uremic syndrome
- p.Ser240Pro Single submitter CD46-related disorders ⚠
- p.Thr267_Asn273del Single submitter atypical hemolytic-uremic syndrome
- p.Thr368= Single submitter atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
- p.Thr368Ile Single submitter CD46-related disorder ⚠
- p.Thr98Ile Single submitter atypical hemolytic-uremic syndrome with MCP/CD46 anomaly ⚠
- p.Tyr189Asp Single submitter atypical hemolytic-uremic syndrome with MCP/CD46 anomaly ⚠
- p.Tyr95= Single submitter atypical hemolytic-uremic syndrome
Benign 38
- c.1082+109T>A Multiple submitters
- c.1082+43T>C Multiple submitters atypical hemolytic-uremic syndrome
- c.1083-10C>T Multiple submitters atypical hemolytic-uremic syndrome
- c.475+284G>A Multiple submitters
- c.476-107A>C Multiple submitters
- c.476-41A>T Multiple submitters atypical hemolytic-uremic syndrome
- c.673+58A>G Multiple submitters atypical hemolytic-uremic syndrome
- c.857-271T>A Multiple submitters
- c.901+23G>T Multiple submitters atypical hemolytic-uremic syndrome
- c.944-78G>A Multiple submitters atypical hemolytic-uremic syndrome
- c.-366G>A Multiple submitters atypical hemolytic-uremic syndrome
- c.-652G>A Multiple submitters atypical hemolytic-uremic syndrome
- c.*1435T>C Multiple submitters atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
- c.*1875T>G Multiple submitters atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
- c.*503A>G Multiple submitters atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
- c.*897T>C Multiple submitters atypical hemolytic-uremic syndrome
- p.Ser151= Multiple submitters atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
- c.1082+106_1082+109del Single submitter
- c.1082+114_1082+116dup Single submitter
- c.1082+115_1082+116dup Single submitter
- c.1082+632A>G Single submitter
- c.1082+638A>G Single submitter atypical hemolytic-uremic syndrome
- c.286+26_286+27del Single submitter
- c.389+188T>G Single submitter
- c.390-10del Single submitter
- c.475+21dup Single submitter
- c.475+250dup Single submitter
- c.476-4del Single submitter
- c.673+283_673+284dup Single submitter
- c.673+284dup Single submitter
- c.674-312G>T Single submitter
- c.857-182dup Single submitter
- c.98-156G>A Single submitter
- c.98-192T>A Single submitter
- c.983-322G>C Single submitter
- c.*1498G>T Single submitter atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
- c.*918G>A Single submitter atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
- p.Cys210= Single submitter
Benign/Likely benign 10
- c.286+27del Multiple submitters atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
- c.286+27dup Multiple submitters
- c.856+20dup Multiple submitters
- c.856+20T>C Multiple submitters
- c.857-190C>T Multiple submitters
- c.944-12C>A Multiple submitters
- p.Ala338Val Multiple submitters atypical hemolytic-uremic syndrome
- p.Leu139= Multiple submitters kidney disorder
- p.Ser13Phe Multiple submitters atypical hemolytic-uremic syndrome
- p.Ser287= Multiple submitters kidney disorder
Likely benign 110
- c.1083-11C>T Multiple submitters
- c.287-17A>G Multiple submitters
- c.857-117T>C Multiple submitters
- c.857-192A>T Multiple submitters
- c.902-12T>C Multiple submitters
- c.943+15T>C Multiple submitters
- c.943+15T>G Multiple submitters
- c.97+7C>A Multiple submitters
- c.-11C>A Multiple submitters atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
- p.Ala296= Multiple submitters
- p.Arg370= Multiple submitters
- p.Leu262= Multiple submitters
- p.Leu87= Multiple submitters atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
- p.Thr85= Multiple submitters
- p.Tyr131= Multiple submitters
- c.1019-13T>C Single submitter
- c.1082+11G>A Single submitter
- c.1082+11G>T Single submitter
- c.1082+46T>G Single submitter atypical hemolytic-uremic syndrome
- c.1083-6G>A Single submitter
- c.1083-9T>C Single submitter
- c.286+11_286+14del Single submitter
- c.286+18_286+27del Single submitter atypical hemolytic-uremic syndrome
- c.287-15A>G Single submitter
- c.287-7C>T Single submitter
- c.389+13T>G Single submitter
- c.390-10T>A Single submitter
- c.390-14_390-11del Single submitter
- c.390-19C>T Single submitter
- c.390-60T>C Single submitter atypical hemolytic-uremic syndrome
- c.390-6A>G Single submitter
- c.475+11dup Single submitter
- c.475+12_475+14del Single submitter
- c.475+19_475+21del Single submitter
- c.475+33A>G Single submitter atypical hemolytic-uremic syndrome
- c.475+7A>G Single submitter
- c.476-4T>G Single submitter
- c.476-5T>G Single submitter
- c.673+10C>G Single submitter
- c.673+12A>G Single submitter
- c.673+59T>G Single submitter atypical hemolytic-uremic syndrome
- c.673+9T>G Single submitter
- c.674-15T>C Single submitter
- c.856+12A>G Single submitter
- c.856+18T>C Single submitter
- c.857-102_857-87del Single submitter
- c.857-108A>C Single submitter
- c.857-109T>C Single submitter
- c.857-110T>G Single submitter
- c.857-111C>T Single submitter
- c.857-116T>A Single submitter
- c.857-119G>A Single submitter
- c.857-120A>C Single submitter
- c.857-131T>C Single submitter
- c.857-153A>G Single submitter
- c.857-184T>G Single submitter
- c.857-189A>G Single submitter
- c.857-190C>G Single submitter
- c.857-92A>G Single submitter atypical hemolytic-uremic syndrome
- c.901+15T>G Single submitter
- c.902-16A>G Single submitter
- c.943+19C>T Single submitter
- c.943+7T>C Single submitter
- c.944-11T>C Single submitter
- c.944-18T>A Single submitter
- c.944-4C>G Single submitter
- c.944-68T>C Single submitter atypical hemolytic-uremic syndrome
- c.944-8T>C Single submitter
- c.97+10C>T Single submitter
- c.97+7C>G Single submitter
- c.97+7C>T Single submitter
- c.97+8C>T Single submitter
- c.98-10T>G Single submitter
- c.982+13A>G Single submitter
- c.982+17T>C Single submitter
- c.982+9A>G Single submitter
- c.983-16C>T Single submitter
- c.983-20G>T Single submitter
- p.Ala110= Single submitter
- p.Ala23= Single submitter atypical hemolytic-uremic syndrome
- p.Ala338= Single submitter atypical hemolytic-uremic syndrome
- p.Asp212Asn Single submitter
- p.Cys256= Single submitter
- p.Glu136= Single submitter
- p.Glu137= Single submitter
- p.Glu177Asp Single submitter
- p.Glu179= Single submitter
- p.Glu205= Single submitter
- p.Glu321= Single submitter
- p.Gly67= Single submitter
- p.Ile337Val Single submitter
- p.Leu184= Single submitter
- p.Leu354= Single submitter
- p.Phe125= Single submitter
- p.Phe242= Single submitter
- p.Phe31= Single submitter
- p.Pro10= Single submitter
- p.Pro278= Single submitter
- p.Pro4= Single submitter
- p.Pro72= Single submitter
- p.Ser265= Single submitter
- p.Thr116= Single submitter
- p.Thr174= Single submitter
- p.Tyr117= Single submitter
- p.Tyr189= Single submitter
- p.Tyr313= Single submitter
- p.Tyr54= Single submitter
- p.Val225= Single submitter
- p.Val233= Single submitter
- p.Gly5= No assertion criteria CD46-related disorder
Uncertain significance 305
Showing the top 300 by review status; the full set is in the sitemap.
- c.857-124T>A Multiple submitters atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
- c.*52G>A Multiple submitters atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
- p.Ala296Val Multiple submitters atypical hemolytic-uremic syndrome ⚠
- p.Ala344Gly Multiple submitters atypical hemolytic-uremic syndrome ⚠
- p.Ala75Val Multiple submitters ⚠
- p.Arg218His Multiple submitters atypical hemolytic-uremic syndrome ⚠
- p.Arg82Gln Multiple submitters atypical hemolytic-uremic syndrome with MCP/CD46 anomaly ⚠
- p.Arg82Trp Multiple submitters CD46-related disorder ⚠
- p.Asn235His Multiple submitters ⚠
- p.Asp185Asn Multiple submitters atypical hemolytic-uremic syndrome ⚠
- p.Asp185Gly Multiple submitters atypical hemolytic-uremic syndrome with MCP/CD46 anomaly ⚠
- p.Cys64Tyr Multiple submitters atypical hemolytic-uremic syndrome ⚠
- p.Cys99Tyr Multiple submitters ⚠
- p.Glu142Gln Multiple submitters atypical hemolytic-uremic syndrome ⚠
- p.Glu158Gln Multiple submitters atypical hemolytic-uremic syndrome ⚠
- p.Gly130Val Multiple submitters atypical hemolytic-uremic syndrome ⚠
- p.Gly135Asp Multiple submitters atypical hemolytic-uremic syndrome ⚠
- p.Gly211del Multiple submitters
- p.Gly259Arg Multiple submitters ⚠
- p.Gly57Ser Multiple submitters
- p.His84Arg Multiple submitters ⚠
- p.Ile102Val Multiple submitters ⚠
- p.Ile134Met Multiple submitters atypical hemolytic-uremic syndrome ⚠
- p.Ile332Val Multiple submitters atypical hemolytic-uremic syndrome ⚠
- p.Ile56Thr Multiple submitters atypical hemolytic-uremic syndrome with MCP/CD46 anomaly ⚠
- p.Leu262Ile Multiple submitters ⚠
- p.Leu327= Multiple submitters
- p.Lys227Asn Multiple submitters ⚠
- p.Met24Ile Multiple submitters atypical hemolytic-uremic syndrome with MCP/CD46 anomaly ⚠
- p.Met253Ile Multiple submitters ⚠
- p.Pro164Gln Multiple submitters atypical hemolytic-uremic syndrome with MCP/CD46 anomaly ⚠
- p.Pro193Ser Multiple submitters atypical hemolytic-uremic syndrome ⚠
- p.Pro195Ser Multiple submitters atypical hemolytic-uremic syndrome ⚠
- p.Pro197Thr Multiple submitters ⚠
- p.Pro317Ala Multiple submitters atypical hemolytic-uremic syndrome with MCP/CD46 anomaly ⚠
- p.Ser287Leu Multiple submitters atypical hemolytic-uremic syndrome with MCP/CD46 anomaly ⚠
- p.Thr163Ile Multiple submitters atypical hemolytic-uremic syndrome ⚠
- p.Thr207Met Multiple submitters CD46-related disorder ⚠
- p.Thr267Ala Multiple submitters CD46-related disorder ⚠
- p.Thr365Ile Multiple submitters ⚠
- p.Thr40Ala Multiple submitters atypical hemolytic-uremic syndrome with MCP/CD46 anomaly ⚠
- p.Val215Met Multiple submitters atypical hemolytic-uremic syndrome with MCP/CD46 anomaly ⚠
- p.Val60Ala Multiple submitters CD46-related disorder
- c.1019-3T>C Single submitter
- c.1082+13A>T Single submitter atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
- c.1083-1_1084del Single submitter
- c.1083-2A>T Single submitter
- c.1083-3C>G Single submitter atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
- c.286+4A>T Single submitter
- c.389+5G>A Single submitter atypical hemolytic-uremic syndrome
- c.475+5_475+8del Single submitter atypical hemolytic-uremic syndrome
- c.476-3A>T Single submitter
- c.476-6_476-5delinsG Single submitter atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
- c.857-122G>A Single submitter
- c.857-137A>C Single submitter ⚠
- c.857-145C>G Single submitter ⚠
- c.857-148C>T Single submitter atypical hemolytic-uremic syndrome ⚠
- c.901+19T>G Single submitter
- c.902-12_902-11del Single submitter
- c.944-20T>G Single submitter
- c.97+4G>A Single submitter
- c.97+5G>A Single submitter atypical hemolytic-uremic syndrome
- c.97+5G>T Single submitter
- c.973+516_973+518del Single submitter
- c.982+14T>G Single submitter
- c.982+5G>T Single submitter atypical hemolytic-uremic syndrome
- c.-127A>G Single submitter atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
- c.*1099A>G Single submitter atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
- c.*1111C>G Single submitter atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
- c.*1146G>C Single submitter atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
- c.*118G>C Single submitter atypical hemolytic-uremic syndrome
- c.*1211C>T Single submitter atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
- c.*1265T>C Single submitter atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
- c.*1272C>T Single submitter atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
- c.*1418T>C Single submitter atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
- c.*1613C>T Single submitter atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
- c.*1614G>A Single submitter atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
- c.*1641A>G Single submitter atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
- c.*1659A>G Single submitter atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
- c.*1665G>A Single submitter atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
- c.*180T>C Single submitter atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
- c.*1865G>C Single submitter atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
- c.*1888C>T Single submitter atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
- c.*1963C>T Single submitter atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
- c.*31A>G Single submitter atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
- c.*467T>C Single submitter atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
- c.*517T>A Single submitter atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
- c.*518A>G Single submitter atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
- c.*614T>C Single submitter atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
- c.*672A>T Single submitter atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
- c.*920A>G Single submitter atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
- c.*968T>A Single submitter atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
- p.Ala110Thr Single submitter ⚠
- p.Ala113Glu Single submitter ⚠
- p.Ala219Val Single submitter ⚠
- p.Ala220Thr Single submitter ⚠
- p.Ala22Glu Single submitter ⚠
- p.Ala23Gly Single submitter ⚠
- p.Ala250Thr Single submitter ⚠
- p.Ala296Thr Single submitter ⚠
- p.Ala344Val Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Ala34Thr Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Ala43Val Single submitter ⚠
- p.Ala93Ser Single submitter ⚠
- p.Ala93Val Single submitter ⚠
- p.Arg103Gln Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Arg103Trp Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Arg15Pro Single submitter ⚠
- p.Arg15Ser Single submitter ⚠
- p.Arg218Cys Single submitter ⚠
- p.Arg218Leu Single submitter ⚠
- p.Arg218Pro Single submitter ⚠
- p.Arg303Thr Single submitter ⚠
- p.Arg352Ser Single submitter ⚠
- p.Arg59Gln Single submitter ⚠
- p.Arg7Leu Single submitter ⚠
- p.Arg82Val Single submitter
- p.Asn170Ser Single submitter
- p.Asn213His Single submitter ⚠
- p.Asn213Ile Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Asp104Ala Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Asp192Ala Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Asp198Ala Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Asp257Asn Single submitter ⚠
- p.Asp257Val Single submitter ⚠
- p.Asp263Asn Single submitter ⚠
- p.Asp277Ala Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Asp328Gly Single submitter ⚠
- p.Asp33Tyr Single submitter ⚠
- p.Asp366Gly Single submitter ⚠
- p.Asp61Ala Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Asp61Glu Single submitter ⚠
- p.Asp81Ala Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Asp91Ala Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Asp92Ala Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Cys157Tyr Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Cys191Ser Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Cys210Phe Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Cys223Arg Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Cys228Tyr Single submitter ⚠
- p.Cys256Arg Single submitter ⚠
- p.Cys347Tyr Single submitter ⚠
- p.Cys94Tyr Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Glu118Ala Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Glu118Lys Single submitter ⚠
- p.Glu129Ala Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Glu136Ala Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Glu137Ala Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Glu137Gln Single submitter ⚠
- p.Glu142Ala Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Glu158Ala Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Glu182Val Single submitter ⚠
- p.Glu205Asp Single submitter ⚠
- p.Glu36Ala Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Glu36Gly Single submitter ⚠
- p.Glu37Ala Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Glu37Lys Single submitter ⚠
- p.Glu42Ala Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Glu45Ala Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Glu55Ala Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Glu55Lys Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Glu58Ala Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Glu97Ala Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Gly130Ala Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Gly135Ala Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Gly135Arg Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Gly152Ala Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Gly152Ser Single submitter ⚠
- p.Gly18Arg Single submitter ⚠
- p.Gly196Ala Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Gly196Arg Single submitter atypical hemolytic-uremic syndrome with MCP/CD46 anomaly ⚠
- p.Gly236Ala Single submitter
- p.Gly236Arg Single submitter ⚠
- p.Gly241= Single submitter
- p.Gly241Ala Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Gly241Arg Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Gly243Ala Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Gly243Val Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Gly361Asp Single submitter ⚠
- p.Gly5Asp Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Gly67Arg Single submitter ⚠
- p.His124Tyr Single submitter ⚠
- p.His369Tyr Single submitter ⚠
- p.His77Arg Single submitter ⚠
- p.His84Leu Single submitter ⚠
- p.His84Pro Single submitter ⚠
- p.Ile126Ser Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Ile138Ser Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Ile156Val Single submitter ⚠
- p.Ile203Phe Single submitter atypical hemolytic-uremic syndrome with MCP/CD46 anomaly ⚠
- p.Ile203Thr Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Ile208Thr Single submitter ⚠
- p.Ile268Val Single submitter ⚠
- p.Ile339Lys Single submitter ⚠
- p.Ile47Thr Single submitter ⚠
- p.Ile56Val Single submitter ⚠
- p.Ile71Val Single submitter
- p.Leu133Ser Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Leu133Val Single submitter ⚠
- p.Leu19Met Single submitter ⚠
- p.Leu19Phe Single submitter ⚠
- p.Leu20Phe Single submitter ⚠
- p.Leu20Pro Single submitter ⚠
- p.Leu262Pro Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Leu324His Single submitter ⚠
- p.Leu324Phe Single submitter ⚠
- p.Leu364= Single submitter atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
- p.Leu377Arg Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Leu74Phe Single submitter ⚠
- p.Lys144Gln Single submitter ⚠
- p.Lys153Arg Single submitter ⚠
- p.Lys167Ile Single submitter
- p.Lys172Asn Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Lys249Ile Single submitter ⚠
- p.Lys282Arg Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Lys285Glu Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Lys307Arg Single submitter ⚠
- p.Lys358Arg Single submitter ⚠
- p.Lys359Arg Single submitter ⚠
- p.Met123Ile Single submitter ⚠
- p.Met123Leu Single submitter ⚠
- p.Met24Leu Single submitter ⚠
- p.Met253Thr Single submitter ⚠
- p.Met253Val Single submitter ⚠
- p.Met44Ile Single submitter ⚠
- p.Phe175Val Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Phe246Cys Single submitter atypical hemolytic-uremic syndrome with MCP/CD46 anomaly ⚠
- p.Pro10Leu Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Pro112Leu Single submitter ⚠
- p.Pro12Leu Single submitter ⚠
- p.Pro154Ala Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Pro155Ala Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Pro155Leu Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Pro164Ala Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Pro164Arg Single submitter ⚠
- p.Pro164Ser Single submitter ⚠
- p.Pro17Ser Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Pro193Ala Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Pro195Ala Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Pro197Ala Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Pro199Ala Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Pro221Ala Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Pro231Ala Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Pro231Gln Single submitter ⚠
- p.Pro278Ala Single submitter atypical hemolytic-uremic syndrome
- p.Pro278Leu Single submitter ⚠
- p.Pro279Ala Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Pro295Ala Single submitter ⚠
- p.Pro317Arg Single submitter ⚠
- p.Pro350Leu Single submitter ⚠
- p.Pro4Leu Single submitter ⚠
- p.Pro4Ser Single submitter ⚠
- p.Pro50Thr Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Pro73Ala Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Pro73Leu Single submitter ⚠
- p.Pro73Ser Single submitter atypical hemolytic-uremic syndrome with MCP/CD46 anomaly ⚠
- p.Ser176Asn Single submitter ⚠
- p.Ser217Asn Single submitter ⚠
- p.Ser217Gly Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Ser217Thr Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Ser240Ala Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Ser265Asn Single submitter ⚠
- p.Ser274Gly Single submitter ⚠
- p.Ser274Ile Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Ser289Phe Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Ser294Cys Single submitter ⚠
- p.Ser297= Single submitter
- p.Ser298Cys Single submitter ⚠
- p.Ser298Thr Single submitter ⚠
- p.Ser30Cys Single submitter ⚠
- p.Ser30del Single submitter
- p.Ser30Phe Single submitter ⚠
- p.Ser326Gly Single submitter ⚠
- p.Ser90Ala Single submitter ⚠
- p.Ser90Leu Single submitter ⚠
- p.Thr163Ala Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Thr288_Ser294del Single submitter atypical hemolytic-uremic syndrome
- p.Thr291Ala Single submitter ⚠
- p.Thr292Pro Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Thr305Ala Single submitter ⚠
- p.Thr375fs Single submitter
- p.Thr98Ala Single submitter ⚠
- p.Trp14Arg Single submitter ⚠
- p.Trp216Arg Single submitter ⚠
- p.Trp216Cys Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Trp216Gly Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Tyr140His Single submitter ⚠
- p.Tyr183Cys Single submitter atypical hemolytic-uremic syndrome with MCP/CD46 anomaly ⚠
- p.Tyr209His Single submitter ⚠
- p.Tyr248Cys Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Tyr306Asn Single submitter ⚠
- p.Tyr316Phe Single submitter ⚠
- p.Tyr351= Single submitter
- p.Tyr363His Single submitter ⚠
- p.Tyr54Cys Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Tyr62Cys Single submitter ⚠
- p.Tyr70His Single submitter ⚠
- p.Val160Phe Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Val187Leu Single submitter atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
- p.Val233Gly Single submitter atypical hemolytic-uremic syndrome with MCP/CD46 anomaly ⚠