CFB — 622 ClinVar variants
All ClinVar germline CFB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 307 flagged for review →
3 Pathogenic · 6 Likely pathogenic · 23 Conflicting · 15 Benign · 24 Benign/Likely benign · 199 Likely benign · 352 Uncertain significance
Full CFB gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 307
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 vs ClinVar 5
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
CFB p.Asp279Gly
Likely pathogenic
Single submitter
atypical hemolytic-uremic syndrome
-
CFB p.Asp371Gly
Likely pathogenic
Single submitter
atypical hemolytic-uremic syndrome
-
CFB p.Lys323Gln
Likely pathogenic
Single submitter
atypical hemolytic-uremic syndrome
-
CFB p.Lys323Glu
Pathogenic
Single submitter
atypical hemolytic-uremic syndrome
-
CFB p.Ser367Arg
Pathogenic
Single submitter
atypical hemolytic-uremic syndrome
Predictors agree, ClinVar conflicts 9
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
CFB p.Arg202Gln
Conflicting
Single submitter
Inborn genetic diseases
-
CFB p.Arg546Gln
Conflicting
Single submitter
Inborn genetic diseases
- CFB p.Asp279Glu Conflicting Single submitter
-
CFB p.Asp547Glu
Conflicting
Single submitter
Inborn genetic diseases
-
CFB p.Ile242Leu
Conflicting
Single submitter
atypical hemolytic-uremic syndrome
-
CFB p.Ile469Met
Conflicting
Single submitter
atypical hemolytic-uremic syndrome
-
CFB p.Ile502Thr
Conflicting
Single submitter
Inborn genetic diseases
-
CFB p.Thr92Ser
Conflicting
Single submitter
macular degeneration
-
CFB p.Val262Ile
Conflicting
Single submitter
macular degeneration
Predictors lean, ClinVar uncertain 186
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 186
-
CFB p.Ala162Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CFB p.Ala289Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CFB p.Ala567Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CFB p.Arg193Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CFB p.Arg381His Uncertain significance Multiple submitters
-
CFB p.Arg419Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CFB p.Arg642Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CFB p.Arg74Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CFB p.Asp108His
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CFB p.Asp758Asn Uncertain significance Multiple submitters
-
CFB p.Gln467His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CFB p.Gln617Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CFB p.Glu232Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CFB p.Glu549Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CFB p.Glu601Lys
Uncertain significance
Multiple submitters
atypical hemolytic-uremic syndrome
-
CFB p.Glu621Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CFB p.Gly431Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CFB p.His508Gln
Uncertain significance
Multiple submitters
atypical hemolytic-uremic syndrome with B factor anomaly
-
CFB p.Ile101Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CFB p.Ile647Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CFB p.Lys306Arg
Uncertain significance
Multiple submitters
macular degeneration
-
CFB p.Lys348Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CFB p.Met458Ile
Uncertain significance
Multiple submitters
atypical hemolytic-uremic syndrome with B factor anomaly
-
CFB p.Pro168Leu
Uncertain significance
Multiple submitters
atypical hemolytic-uremic syndrome with B factor anomaly
-
CFB p.Pro33Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CFB p.Pro369Ala Uncertain significance Multiple submitters
-
CFB p.Ser284Asn
Uncertain significance
Multiple submitters
atypical hemolytic-uremic syndrome
-
CFB p.Ser472Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CFB p.Thr316Ile
Uncertain significance
Multiple submitters
CFB-related disorder
-
CFB p.Tyr121Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CFB p.Tyr588His
Uncertain significance
Multiple submitters
atypical hemolytic-uremic syndrome with B factor anomaly
-
CFB p.Tyr646Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CFB p.Val577Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CFB p.Val669Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CFB p.Val716Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CFB p.Val716Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CFB p.Ala156Val Uncertain significance Single submitter
-
CFB p.Ala162Gly
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome with B factor anomaly
- CFB p.Ala233Thr Uncertain significance Single submitter
- CFB p.Ala606Thr Uncertain significance Single submitter
-
CFB p.Ala690Val
Uncertain significance
Single submitter
macular degeneration
- CFB p.Ala738Thr Uncertain significance Single submitter
- CFB p.Arg138Gln Uncertain significance Single submitter
-
CFB p.Arg143Cys
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome with B factor anomaly
- CFB p.Arg203Leu Uncertain significance Single submitter
-
CFB p.Arg32Gly
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome
-
CFB p.Arg379His
Uncertain significance
Single submitter
Inborn genetic diseases
- CFB p.Arg415His Uncertain significance Single submitter
- CFB p.Arg503Cys Uncertain significance Single submitter
- CFB p.Arg503His Uncertain significance Single submitter
- CFB p.Arg605Gln Uncertain significance Single submitter
- CFB p.Arg658Lys Uncertain significance Single submitter
- CFB p.Arg710His Uncertain significance Single submitter
- CFB p.Arg730Gln Uncertain significance Single submitter
-
CFB p.Arg74Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- CFB p.Arg94Gly Uncertain significance Single submitter
- CFB p.Arg94Thr Uncertain significance Single submitter
- CFB p.Asn285Ser Uncertain significance Single submitter
-
CFB p.Asn331Asp
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome
- CFB p.Asn448Ser Uncertain significance Single submitter
- CFB p.Asp108Asn Uncertain significance Single submitter
- CFB p.Asp159His Uncertain significance Single submitter
- CFB p.Asp346Glu Uncertain significance Single submitter
- CFB p.Asp370Asn Uncertain significance Single submitter
- CFB p.Asp389Glu Uncertain significance Single submitter
- CFB p.Asp389His Uncertain significance Single submitter
- CFB p.Asp397Asn Uncertain significance Single submitter
- CFB p.Asp532Asn Uncertain significance Single submitter
- CFB p.Cys165Arg Uncertain significance Single submitter
- CFB p.Cys218Gly Uncertain significance Single submitter
- CFB p.Cys37Tyr Uncertain significance Single submitter
- CFB p.Cys656Tyr Uncertain significance Single submitter
-
CFB p.Gln219Leu
Uncertain significance
Single submitter
macular degeneration
- CFB p.Gln467Leu Uncertain significance Single submitter
- CFB p.Gln473His Uncertain significance Single submitter
- CFB p.Gln496Pro Uncertain significance Single submitter
- CFB p.Gln53Pro Uncertain significance Single submitter
- CFB p.Gln713Arg Uncertain significance Single submitter
- CFB p.Gln733His Uncertain significance Single submitter
- CFB p.Glu243Gly Uncertain significance Single submitter
- CFB p.Glu255Lys Uncertain significance Single submitter
- CFB p.Glu40Gln Uncertain significance Single submitter
-
CFB p.Glu449Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- CFB p.Glu459Gln Uncertain significance Single submitter
- CFB p.Glu462Lys Uncertain significance Single submitter
- CFB p.Glu549Asp Uncertain significance Single submitter
- CFB p.Glu566Lys Uncertain significance Single submitter
- CFB p.Glu635Lys Uncertain significance Single submitter
- CFB p.Glu644Val Uncertain significance Single submitter
- CFB p.Glu674Lys Uncertain significance Single submitter
-
CFB p.Gly112Arg
Uncertain significance
Single submitter
macular degeneration
- CFB p.Gly153Val Uncertain significance Single submitter
- CFB p.Gly213Arg Uncertain significance Single submitter
- CFB p.Gly21Arg Uncertain significance Single submitter
-
CFB p.Gly21Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- CFB p.Gly22Ser Uncertain significance Single submitter
- CFB p.Gly252Asp Uncertain significance Single submitter
- CFB p.Gly41Glu Uncertain significance Single submitter
- CFB p.Gly487Cys Uncertain significance Single submitter
- CFB p.Gly513Glu Uncertain significance Single submitter
- CFB p.Gly602Ala Uncertain significance Single submitter
- CFB p.Gly665Ser Uncertain significance Single submitter
- CFB p.Gly684Arg Uncertain significance Single submitter
- CFB p.Gly697Arg Uncertain significance Single submitter
- CFB p.Gly762Asp Uncertain significance Single submitter
- CFB p.His484Gln Uncertain significance Single submitter
- CFB p.His491Tyr Uncertain significance Single submitter
- CFB p.His508Asn Uncertain significance Single submitter
-
CFB p.His535Tyr
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome with B factor anomaly
- CFB p.His706Tyr Uncertain significance Single submitter
- CFB p.Ile170Met Uncertain significance Single submitter
- CFB p.Ile170Val Uncertain significance Single submitter
- CFB p.Ile172Met Uncertain significance Single submitter
- CFB p.Ile242Val Uncertain significance Single submitter
- CFB p.Ile261Met Uncertain significance Single submitter
- CFB p.Ile320Val Uncertain significance Single submitter
-
CFB p.Ile342Thr
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome
- CFB p.Ile385Leu Uncertain significance Single submitter
- CFB p.Ile385Thr Uncertain significance Single submitter
- CFB p.Ile385Val Uncertain significance Single submitter
- CFB p.Ile399Val Uncertain significance Single submitter
- CFB p.Ile439Thr Uncertain significance Single submitter
- CFB p.Ile469Phe Uncertain significance Single submitter
- CFB p.Ile580Thr Uncertain significance Single submitter
- CFB p.Leu195Phe Uncertain significance Single submitter
- CFB p.Leu235Val Uncertain significance Single submitter
-
CFB p.Leu238Arg
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome with B factor anomaly
-
CFB p.Leu433Ser
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome
-
CFB p.Lys290Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- CFB p.Lys290Ile Uncertain significance Single submitter
- CFB p.Lys291Asn Uncertain significance Single submitter
- CFB p.Lys291Gln Uncertain significance Single submitter
-
CFB p.Lys357Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CFB p.Lys492Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- CFB p.Lys498Arg Uncertain significance Single submitter
- CFB p.Lys564Arg Uncertain significance Single submitter
-
CFB p.Lys670Glu
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome
- CFB p.Lys726Arg Uncertain significance Single submitter
- CFB p.Met223Thr Uncertain significance Single submitter
- CFB p.Met223Val Uncertain significance Single submitter
- CFB p.Met387Val Uncertain significance Single submitter
- CFB p.Met512Val Uncertain significance Single submitter
-
CFB p.Phe109Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- CFB p.Phe528Val Uncertain significance Single submitter
-
CFB p.Phe680Leu
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome
- CFB p.Pro116Ser Uncertain significance Single submitter
- CFB p.Pro13Thr Uncertain significance Single submitter
- CFB p.Pro253Gln Uncertain significance Single submitter
- CFB p.Pro265Ser Uncertain significance Single submitter
- CFB p.Pro494Gln Uncertain significance Single submitter
Predictors split 107
The independent predictors disagree with each other — read with care.
-
CFB p.Arg117Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CFB p.Arg138Trp
Uncertain significance
Multiple submitters
atypical hemolytic-uremic syndrome
-
CFB p.Arg203Gln
Uncertain significance
Multiple submitters
atypical hemolytic-uremic syndrome
-
CFB p.Arg32Trp
Benign/Likely benign
Multiple submitters
atypical hemolytic-uremic syndrome with B factor anomaly
-
CFB p.Arg379Cys
Uncertain significance
Multiple submitters
atypical hemolytic-uremic syndrome
-
CFB p.Arg730Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CFB p.Asp447Tyr Uncertain significance Multiple submitters
- CFB p.Glu621Gly Uncertain significance Multiple submitters
- CFB p.Gly543Arg Uncertain significance Multiple submitters
-
CFB p.Leu9His
Benign/Likely benign
Multiple submitters
atypical hemolytic-uremic syndrome with B factor anomaly
-
CFB p.Lys533Arg
Benign/Likely benign
Multiple submitters
complement component 2 deficiency
-
CFB p.Lys538Glu
Uncertain significance
Multiple submitters
CFB-related disorder
-
CFB p.Lys565Glu
Benign/Likely benign
Multiple submitters
macular degeneration
-
CFB p.Pro369Leu
Likely benign
Multiple submitters
atypical hemolytic-uremic syndrome
-
CFB p.Ser152Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CFB p.Thr204Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CFB p.Thr214Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CFB p.Thr79Met Uncertain significance Multiple submitters
-
CFB p.Val187Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CFB p.Val61Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CFB p.Val675Met
Uncertain significance
Multiple submitters
atypical hemolytic-uremic syndrome with B factor anomaly
- CFB p.Ala441Val Uncertain significance Single submitter
-
CFB p.Ala630Val
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome with B factor anomaly
- CFB p.Ala738Val Uncertain significance Single submitter
- CFB p.Arg182Cys Uncertain significance Single submitter
- CFB p.Arg193Trp Uncertain significance Single submitter
-
CFB p.Arg198Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- CFB p.Arg202Gly Uncertain significance Single submitter
-
CFB p.Arg202Trp
Conflicting
Single submitter
atypical hemolytic-uremic syndrome with B factor anomaly
- CFB p.Arg259Gln Uncertain significance Single submitter
- CFB p.Arg406Trp Uncertain significance Single submitter
- CFB p.Arg415Cys Uncertain significance Single submitter
- CFB p.Arg50Gln Uncertain significance Single submitter
- CFB p.Arg546Trp Uncertain significance Single submitter
- CFB p.Arg642Trp Uncertain significance Single submitter
-
CFB p.Arg679Trp
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome
-
CFB p.Arg74His
Conflicting
Single submitter
atypical hemolytic-uremic syndrome with B factor anomaly
-
CFB p.Asn160Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- CFB p.Asn160Ser Uncertain significance Single submitter
- CFB p.Asn340His Uncertain significance Single submitter
-
CFB p.Asn340Ile
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome
-
CFB p.Asn340Tyr
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome
-
CFB p.Asp133Asn
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome
- CFB p.Asp220His Uncertain significance Single submitter
- CFB p.Asp627Asn Uncertain significance Single submitter
- CFB p.Asp691Asn Uncertain significance Single submitter
- CFB p.Gln616Arg Uncertain significance Single submitter
- CFB p.Gln616His Uncertain significance Single submitter
- CFB p.Glu126Asp Uncertain significance Single submitter
-
CFB p.Glu215Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- CFB p.Glu243Val Uncertain significance Single submitter
- CFB p.Glu483Val Uncertain significance Single submitter
- CFB p.Glu754Lys Uncertain significance Single submitter
- CFB p.Glu97Asp Uncertain significance Single submitter
- CFB p.Gly134Ser Uncertain significance Single submitter
- CFB p.Gly163Ala Uncertain significance Single submitter
- CFB p.Gly17Asp Uncertain significance Single submitter
- CFB p.Gly194Arg Uncertain significance Single submitter
- CFB p.Gly208Ser Uncertain significance Single submitter
- CFB p.Gly41Arg Uncertain significance Single submitter
-
CFB p.Gly429Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- CFB p.Gly47Ser Uncertain significance Single submitter
- CFB p.Gly568Glu Uncertain significance Single submitter
- CFB p.Gly650Glu Uncertain significance Single submitter
- CFB p.Ile281Thr Uncertain significance Single submitter
- CFB p.Ile44Phe Uncertain significance Single submitter
-
CFB p.Ile550Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- CFB p.Ile569Leu Uncertain significance Single submitter
- CFB p.Ile592Thr Uncertain significance Single submitter
- CFB p.Leu183Phe Uncertain significance Single submitter
- CFB p.Leu18Ile Uncertain significance Single submitter
- CFB p.Leu275Val Uncertain significance Single submitter
- CFB p.Lys319Asn Uncertain significance Single submitter
-
CFB p.Lys350Asn
Pathogenic
Single submitter
atypical hemolytic-uremic syndrome
-
CFB p.Lys357Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- CFB p.Lys583Arg Uncertain significance Single submitter
- CFB p.Lys86Met Uncertain significance Single submitter
- CFB p.Met387Ile Uncertain significance Single submitter
- CFB p.Met394Ile Uncertain significance Single submitter
- CFB p.Met458Thr Uncertain significance Single submitter
-
CFB p.Met512Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- CFB p.Pro216Ala Uncertain significance Single submitter
- CFB p.Pro373Arg Uncertain significance Single submitter
- CFB p.Pro373Leu Uncertain significance Single submitter
- CFB p.Pro63Ser Uncertain significance Single submitter
- CFB p.Pro678Arg Uncertain significance Single submitter
- CFB p.Pro735Thr Uncertain significance Single submitter
- CFB p.Ser118Phe Uncertain significance Single submitter
- CFB p.Ser284Cys Uncertain significance Single submitter
- CFB p.Ser81Pro Uncertain significance Single submitter
- CFB p.Ser83Gly Uncertain significance Single submitter
-
CFB p.Thr144Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- CFB p.Thr214Arg Uncertain significance Single submitter
- CFB p.Thr226Ile Uncertain significance Single submitter
- CFB p.Thr400Ile Uncertain significance Single submitter
-
CFB p.Thr613Ile
Conflicting
Single submitter
macular degeneration
-
CFB p.Tyr67His
Uncertain significance
Single submitter
atypical hemolytic-uremic syndrome
-
CFB p.Tyr689Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- CFB p.Val434Met Uncertain significance Single submitter
-
CFB p.Val553Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
CFB p.Val577Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- CFB p.Val61Glu Uncertain significance Single submitter
- CFB p.Val645Ala Uncertain significance Single submitter
- CFB p.Val722Met Uncertain significance Single submitter
- CFB p.Val734Glu Uncertain significance Single submitter
- CFB p.Val93Leu Uncertain significance Single submitter
-
CFB p.Arg406Gln
Uncertain significance
No assertion criteria
atypical hemolytic-uremic syndrome with B factor anomaly
All CFB variants
Pathogenic 3
- p.Lys323Glu Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Lys350Asn Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Ser367Arg Single submitter atypical hemolytic-uremic syndrome ⚠
Likely pathogenic 6
- c.898-2A>C Single submitter complement factor b deficiency
- p.Asp279Gly Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Asp371Gly Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Ile297fs Single submitter
- p.Lys323Gln Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Phe286Leu Single submitter atypical hemolytic-uremic syndrome
Conflicting classifications of pathogenicity 23
- c.1037-10C>T Single submitter atypical hemolytic-uremic syndrome with B factor anomaly
- c.1778+8C>T Single submitter atypical hemolytic-uremic syndrome
- c.1956+10G>A Single submitter atypical hemolytic-uremic syndrome with B factor anomaly
- c.658+7T>C Single submitter atypical hemolytic-uremic syndrome with B factor anomaly
- c.*47C>T Single submitter atypical hemolytic-uremic syndrome with B factor anomaly
- p.Arg202Gln Single submitter Inborn genetic diseases ⚠
- p.Arg202Trp Single submitter atypical hemolytic-uremic syndrome with B factor anomaly ⚠
- p.Arg546Gln Single submitter Inborn genetic diseases ⚠
- p.Arg74His Single submitter atypical hemolytic-uremic syndrome with B factor anomaly ⚠
- p.Asp279Glu Single submitter ⚠
- p.Asp531= Single submitter macular degeneration
- p.Asp547Glu Single submitter Inborn genetic diseases ⚠
- p.Glu240= Single submitter atypical hemolytic-uremic syndrome with B factor anomaly
- p.Glu97= Single submitter macular degeneration
- p.Gly169= Single submitter atypical hemolytic-uremic syndrome
- p.His107= Single submitter macular degeneration
- p.Ile242Leu Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Ile469Met Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Ile502Thr Single submitter Inborn genetic diseases ⚠
- p.Thr613Ile Single submitter macular degeneration ⚠
- p.Thr92Ser Single submitter macular degeneration ⚠
- p.Val262Ile Single submitter macular degeneration ⚠
- p.Val430= Single submitter macular degeneration
Benign 15
- c.1036+111A>G Multiple submitters atypical hemolytic-uremic syndrome
- c.1408+206T>C Multiple submitters atypical hemolytic-uremic syndrome
- c.1856-18C>T Multiple submitters
- c.2140-74A>G Multiple submitters atypical hemolytic-uremic syndrome with B factor anomaly
- c.*23C>T Multiple submitters atypical hemolytic-uremic syndrome with B factor anomaly
- p.Arg150= Multiple submitters atypical hemolytic-uremic syndrome with B factor anomaly
- c.1169-104A>G Single submitter
- c.1169-69T>C Single submitter
- c.1408+223_1408+224insAT Single submitter
- c.1507-3del Single submitter
- c.1856-61A>G Single submitter
- c.299-111C>T Single submitter atypical hemolytic-uremic syndrome
- c.659-11G>T Single submitter
- c.898-89A>G Single submitter
- p.Pro494= Single submitter
Benign/Likely benign 24
- c.1037-10C>G Multiple submitters macular degeneration
- c.1408+7A>C Multiple submitters
- c.1409-18A>G Multiple submitters
- c.1778+9G>A Multiple submitters macular degeneration
- c.2090-13C>G Multiple submitters
- p.Arg32Gln Multiple submitters age related macular degeneration 14
- p.Arg32Trp Multiple submitters atypical hemolytic-uremic syndrome with B factor anomaly ⚠
- p.Arg379= Multiple submitters atypical hemolytic-uremic syndrome with B factor anomaly
- p.Arg381= Multiple submitters atypical hemolytic-uremic syndrome
- p.Asp651Glu Multiple submitters macular degeneration
- p.Glu326Asp Multiple submitters kidney disorder
- p.Glu566Ala Multiple submitters kidney disorder
- p.Gly252Ser Multiple submitters atypical hemolytic-uremic syndrome
- p.His508= Multiple submitters atypical hemolytic-uremic syndrome with B factor anomaly
- p.Leu9His Multiple submitters atypical hemolytic-uremic syndrome with B factor anomaly ⚠
- p.Lys533Arg Multiple submitters complement component 2 deficiency ⚠
- p.Lys565Glu Multiple submitters macular degeneration ⚠
- p.Phe286= Multiple submitters atypical hemolytic-uremic syndrome with B factor anomaly
- p.Pro168= Multiple submitters atypical hemolytic-uremic syndrome with B factor anomaly
- p.Ser200= Multiple submitters atypical hemolytic-uremic syndrome with B factor anomaly
- p.Tyr135= Multiple submitters atypical hemolytic-uremic syndrome with B factor anomaly
- p.Tyr224= Multiple submitters atypical hemolytic-uremic syndrome with B factor anomaly
- p.Val455= Multiple submitters atypical hemolytic-uremic syndrome with B factor anomaly
- p.Val516= Multiple submitters atypical hemolytic-uremic syndrome with B factor anomaly
Likely benign 199
- c.1408+11A>C Multiple submitters
- p.Lys729Arg Multiple submitters Inborn genetic diseases
- p.Pro369Leu Multiple submitters atypical hemolytic-uremic syndrome ⚠
- c.1036+11A>T Single submitter
- c.1036+16A>G Single submitter
- c.1036+7G>A Single submitter
- c.1037-12C>T Single submitter
- c.1037-13T>C Single submitter
- c.1037-18T>C Single submitter
- c.1037-19G>C Single submitter
- c.1168+13CT[2] Single submitter
- c.1168+14T>C Single submitter
- c.1168+18T>C Single submitter
- c.1168+19C>T Single submitter
- c.1169-14T>C Single submitter
- c.1169-15C>A Single submitter
- c.1169-16C>T Single submitter
- c.1169-18G>A Single submitter
- c.1169-18G>T Single submitter
- c.1271-5C>G Single submitter
- c.1409-10T>C Single submitter
- c.1506+16C>T Single submitter
- c.1506+19T>C Single submitter
- c.1507-7T>C Single submitter
- c.1624+11A>G Single submitter
- c.1624+13C>T Single submitter
- c.1624+18G>A Single submitter
- c.1625-13T>C Single submitter
- c.1625-17C>G Single submitter
- c.1625-18C>T Single submitter
- c.1625-6C>A Single submitter
- c.1778+13A>G Single submitter
- c.1778+19_1778+20del Single submitter
- c.1778+19C>T Single submitter
- c.1778+8C>A Single submitter
- c.1779-20G>C Single submitter
- c.1855+7C>T Single submitter
- c.1856-14G>A Single submitter
- c.1856-15A>C Single submitter
- c.1856-17G>A Single submitter
- c.1856-6G>A Single submitter
- c.1856-7C>T Single submitter
- c.1956+11G>A Single submitter
- c.1956+13C>G Single submitter
- c.1956+13C>T Single submitter
- c.1957-28_1957-16del Single submitter
- c.1957-8C>T Single submitter
- c.2089+10T>C Single submitter
- c.2089+20T>A Single submitter
- c.2090-13C>T Single submitter
- c.2090-20A>C Single submitter
- c.2090-4G>C Single submitter
- c.2090-5T>C Single submitter
- c.2139+13T>C Single submitter
- c.2139+7C>T Single submitter
- c.2140-10G>C Single submitter
- c.2140-14C>T Single submitter
- c.2140-15C>G Single submitter
- c.2140-17C>T Single submitter
- c.2140-4G>A Single submitter
- c.2140-6C>T Single submitter
- c.2140-8C>T Single submitter
- c.298+18G>C Single submitter
- c.299-10C>T Single submitter
- c.299-11C>G Single submitter
- c.299-13C>T Single submitter
- c.299-15C>A Single submitter
- c.299-16del Single submitter
- c.484+13C>T Single submitter
- c.484+15C>T Single submitter
- c.484+17C>A Single submitter
- c.484+7A>C Single submitter
- c.485-18T>C Single submitter
- c.64+11G>C Single submitter
- c.64+15C>A Single submitter
- c.64+19C>G Single submitter
- c.64+7G>A Single submitter
- c.65-10T>C Single submitter
- c.65-8C>T Single submitter
- c.658+15G>A Single submitter
- c.658+18C>T Single submitter
- c.760+10C>T Single submitter
- c.761-12C>T Single submitter
- c.761-20G>A Single submitter
- c.761-4C>T Single submitter
- c.897+11_897+13del Single submitter
- c.897+17_897+34del Single submitter
- c.897+7T>C Single submitter
- c.897+8C>T Single submitter
- c.898-10T>C Single submitter
- c.898-12C>T Single submitter
- c.898-8del Single submitter
- p.Ala156= Single submitter
- p.Ala332= Single submitter
- p.Ala358= Single submitter
- p.Arg193= Single submitter
- p.Arg203= Single submitter
- p.Arg259= Single submitter
- p.Arg415= Single submitter
- p.Arg546= Single submitter
- p.Arg658= Single submitter
- p.Asn111= Single submitter
- p.Asn148= Single submitter
- p.Asn160= Single submitter
- p.Asn167= Single submitter
- p.Asn438= Single submitter
- p.Asp133= Single submitter
- p.Asp328= Single submitter
- p.Asp371= Single submitter
- p.Asp397= Single submitter
- p.Asp407= Single submitter
- p.Asp447= Single submitter
- p.Asp576= Single submitter
- p.Asp627= Single submitter
- p.Asp671= Single submitter
- p.Cys596= Single submitter
- p.Cys615= Single submitter
- p.Gln146= Single submitter
- p.Gln626= Single submitter
- p.Gln8= Single submitter
- p.Glu404= Single submitter
- p.Glu509= Single submitter
- p.Glu549= Single submitter
- p.Glu571= Single submitter
- p.Glu635= Single submitter
- p.Gly250= Single submitter
- p.Gly267= Single submitter
- p.Gly46= Single submitter
- p.Gly487= Single submitter
- p.Gly568= Single submitter
- p.Gly665= Single submitter
- p.Gly700= Single submitter
- p.His251= Single submitter
- p.His392= Single submitter
- p.His451= Single submitter
- p.His526= Single submitter
- p.His556= Single submitter
- p.His737= Single submitter
- p.Ile127= Single submitter
- p.Ile261= Single submitter
- p.Ile592= Single submitter
- p.Ile595= Single submitter
- p.Leu16= Single submitter
- p.Leu183= Single submitter
- p.Leu311= Single submitter
- p.Leu359= Single submitter
- p.Leu423= Single submitter
- p.Leu442= Single submitter
- p.Leu5= Single submitter
- p.Leu548= Single submitter
- p.Leu554= Single submitter
- p.Leu582= Single submitter
- p.Leu622= Single submitter
- p.Leu623= Single submitter
- p.Leu640= Single submitter
- p.Leu756= Single submitter
- p.Leu764= Single submitter
- p.Lys291= Single submitter
- p.Lys323= Single submitter
- p.Lys445= Single submitter
- p.Lys583= Single submitter
- p.Lys585= Single submitter
- p.Lys587= Single submitter
- p.Lys643= Single submitter
- p.Phe109= Single submitter
- p.Pro13= Single submitter
- p.Pro432= Single submitter
- p.Pro68= Single submitter
- p.Pro735= Single submitter
- p.Pro750= Single submitter
- p.Ser186= Single submitter
- p.Ser212= Single submitter
- p.Ser237= Single submitter
- p.Ser510= Single submitter
- p.Thr155= Single submitter
- p.Thr214= Single submitter
- p.Thr313= Single submitter
- p.Thr316= Single submitter
- p.Thr336= Single submitter
- p.Thr388= Single submitter
- p.Thr488= Single submitter
- p.Thr600= Single submitter
- p.Thr612= Single submitter
- p.Tyr120= Single submitter
- p.Tyr121= Single submitter
- p.Tyr309= Single submitter
- p.Tyr466= Single submitter
- p.Tyr490= Single submitter
- p.Tyr519= Single submitter
- p.Tyr60= Single submitter
- p.Tyr646= Single submitter
- p.Val147= Single submitter
- p.Val187= Single submitter
- p.Val335= Single submitter
- p.Val362= Single submitter
- p.Val401= Single submitter
- p.Val553= Single submitter
- p.Val71= Single submitter
- p.Lys648Ter No assertion criteria neutropenia
Uncertain significance 352
Showing the top 300 by review status; the full set is in the sitemap.
- c.2140-1G>C Multiple submitters
- c.-3G>A Multiple submitters complement factor b deficiency
- p.Ala162Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala289Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala567Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg117Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg138Trp Multiple submitters atypical hemolytic-uremic syndrome ⚠
- p.Arg193Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg203Gln Multiple submitters atypical hemolytic-uremic syndrome ⚠
- p.Arg379Cys Multiple submitters atypical hemolytic-uremic syndrome ⚠
- p.Arg381His Multiple submitters ⚠
- p.Arg419Lys Multiple submitters Inborn genetic diseases ⚠
- p.Arg642Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg730Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg74Cys Multiple submitters Inborn genetic diseases ⚠
- p.Asp108His Multiple submitters Inborn genetic diseases ⚠
- p.Asp447Tyr Multiple submitters ⚠
- p.Asp758Asn Multiple submitters ⚠
- p.Gln256Ter Multiple submitters atypical hemolytic-uremic syndrome
- p.Gln467His Multiple submitters Inborn genetic diseases ⚠
- p.Gln617Pro Multiple submitters Inborn genetic diseases ⚠
- p.Glu232Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu549Gln Multiple submitters Inborn genetic diseases ⚠
- p.Glu601Lys Multiple submitters atypical hemolytic-uremic syndrome ⚠
- p.Glu621Gly Multiple submitters ⚠
- p.Glu621Lys Multiple submitters Inborn genetic diseases ⚠
- p.Gly431Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly543Arg Multiple submitters ⚠
- p.His508Gln Multiple submitters atypical hemolytic-uremic syndrome with B factor anomaly ⚠
- p.Ile101Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile647Thr Multiple submitters Inborn genetic diseases ⚠
- p.Lys306Arg Multiple submitters macular degeneration ⚠
- p.Lys348Met Multiple submitters Inborn genetic diseases ⚠
- p.Lys538Glu Multiple submitters CFB-related disorder ⚠
- p.Met458Ile Multiple submitters atypical hemolytic-uremic syndrome with B factor anomaly ⚠
- p.Pro168Leu Multiple submitters atypical hemolytic-uremic syndrome with B factor anomaly ⚠
- p.Pro33Ala Multiple submitters Inborn genetic diseases ⚠
- p.Pro369Ala Multiple submitters ⚠
- p.Ser152Asn Multiple submitters Inborn genetic diseases ⚠
- p.Ser284Asn Multiple submitters atypical hemolytic-uremic syndrome ⚠
- p.Ser472Arg Multiple submitters Inborn genetic diseases ⚠
- p.Thr204Met Multiple submitters Inborn genetic diseases ⚠
- p.Thr214Met Multiple submitters Inborn genetic diseases ⚠
- p.Thr316Ile Multiple submitters CFB-related disorder ⚠
- p.Thr79Met Multiple submitters ⚠
- p.Tyr121Cys Multiple submitters Inborn genetic diseases ⚠
- p.Tyr588His Multiple submitters atypical hemolytic-uremic syndrome with B factor anomaly ⚠
- p.Tyr646Ser Multiple submitters Inborn genetic diseases ⚠
- p.Val187Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val577Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val61Met Multiple submitters Inborn genetic diseases ⚠
- p.Val669Leu Multiple submitters Inborn genetic diseases ⚠
- p.Val675Met Multiple submitters atypical hemolytic-uremic syndrome with B factor anomaly ⚠
- p.Val716Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val716Leu Multiple submitters Inborn genetic diseases ⚠
- c.1037-7T>G Single submitter
- c.1270+3G>A Single submitter
- c.1270+3G>T Single submitter
- c.1270+4A>T Single submitter
- c.1270+6T>C Single submitter atypical hemolytic-uremic syndrome
- c.1271-1G>A Single submitter
- c.1271-3C>T Single submitter
- c.1408+11A>T Single submitter atypical hemolytic-uremic syndrome
- c.1409-10_1409-8del Single submitter
- c.1506+1G>T Single submitter
- c.1506+6C>T Single submitter
- c.1855+2_1855+3delinsAC Single submitter
- c.1855+2T>A Single submitter
- c.1956+1G>T Single submitter
- c.1956+3G>A Single submitter
- c.2089+5G>C Single submitter
- c.2090-12_2090-10del Single submitter
- c.2139+13_2139+18del Single submitter
- c.299-20C>G Single submitter
- c.485-14T>A Single submitter
- c.485-20G>A Single submitter
- c.64+6C>T Single submitter
- c.65-8C>G Single submitter
- c.658+5C>T Single submitter
- c.-199T>C Single submitter atypical hemolytic-uremic syndrome with B factor anomaly
- c.*16A>T Single submitter atypical hemolytic-uremic syndrome with B factor anomaly
- p.Ala156Val Single submitter ⚠
- p.Ala162Gly Single submitter atypical hemolytic-uremic syndrome with B factor anomaly ⚠
- p.Ala231= Single submitter
- p.Ala233Thr Single submitter ⚠
- p.Ala327= Single submitter atypical hemolytic-uremic syndrome
- p.Ala441Val Single submitter ⚠
- p.Ala606Thr Single submitter ⚠
- p.Ala630Val Single submitter atypical hemolytic-uremic syndrome with B factor anomaly ⚠
- p.Ala690Val Single submitter macular degeneration ⚠
- p.Ala738Thr Single submitter ⚠
- p.Ala738Val Single submitter ⚠
- p.Arg138Gln Single submitter ⚠
- p.Arg143Cys Single submitter atypical hemolytic-uremic syndrome with B factor anomaly ⚠
- p.Arg150Gln Single submitter
- p.Arg150Ter Single submitter
- p.Arg182Cys Single submitter ⚠
- p.Arg193Trp Single submitter ⚠
- p.Arg198Cys Single submitter Inborn genetic diseases ⚠
- p.Arg202Gly Single submitter ⚠
- p.Arg203Leu Single submitter ⚠
- p.Arg203Ter Single submitter
- p.Arg259Gln Single submitter ⚠
- p.Arg32Gly Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Arg32Ter Single submitter atypical hemolytic-uremic syndrome
- p.Arg379His Single submitter Inborn genetic diseases ⚠
- p.Arg406Trp Single submitter ⚠
- p.Arg415Cys Single submitter ⚠
- p.Arg415His Single submitter ⚠
- p.Arg503Cys Single submitter ⚠
- p.Arg503His Single submitter ⚠
- p.Arg50Gln Single submitter ⚠
- p.Arg50Ter Single submitter
- p.Arg546Trp Single submitter ⚠
- p.Arg605Gln Single submitter ⚠
- p.Arg605Ter Single submitter
- p.Arg642Trp Single submitter ⚠
- p.Arg658Lys Single submitter ⚠
- p.Arg679Trp Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Arg710His Single submitter ⚠
- p.Arg730Gln Single submitter ⚠
- p.Arg739Ter Single submitter
- p.Arg74Ser Single submitter Inborn genetic diseases ⚠
- p.Arg94Gly Single submitter ⚠
- p.Arg94Thr Single submitter ⚠
- p.Asn160Lys Single submitter Inborn genetic diseases ⚠
- p.Asn160Ser Single submitter ⚠
- p.Asn285Ser Single submitter ⚠
- p.Asn331Asp Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Asn340His Single submitter ⚠
- p.Asn340Ile Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Asn340Tyr Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Asn448Ser Single submitter ⚠
- p.Asn460fs Single submitter
- p.Asp108Asn Single submitter ⚠
- p.Asp133Asn Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Asp159His Single submitter ⚠
- p.Asp220His Single submitter ⚠
- p.Asp346Glu Single submitter ⚠
- p.Asp370Asn Single submitter ⚠
- p.Asp389Glu Single submitter ⚠
- p.Asp389His Single submitter ⚠
- p.Asp397Asn Single submitter ⚠
- p.Asp532Asn Single submitter ⚠
- p.Asp627Asn Single submitter ⚠
- p.Asp659fs Single submitter
- p.Asp691Asn Single submitter ⚠
- p.Asp723fs Single submitter
- p.Cys165Arg Single submitter ⚠
- p.Cys218Gly Single submitter ⚠
- p.Cys218Ter Single submitter
- p.Cys37Tyr Single submitter ⚠
- p.Cys656Tyr Single submitter ⚠
- p.Gln219Leu Single submitter macular degeneration ⚠
- p.Gln467Leu Single submitter ⚠
- p.Gln473His Single submitter ⚠
- p.Gln496Pro Single submitter ⚠
- p.Gln53Pro Single submitter ⚠
- p.Gln616Arg Single submitter ⚠
- p.Gln616His Single submitter ⚠
- p.Gln713Arg Single submitter ⚠
- p.Gln728= Single submitter
- p.Gln728Ter Single submitter atypical hemolytic-uremic syndrome
- p.Gln733His Single submitter ⚠
- p.Glu126Asp Single submitter ⚠
- p.Glu215Gly Single submitter Inborn genetic diseases ⚠
- p.Glu243_Gly244delinsGlyVal Single submitter
- p.Glu243del Single submitter
- p.Glu243Gly Single submitter ⚠
- p.Glu243Val Single submitter ⚠
- p.Glu255Lys Single submitter ⚠
- p.Glu326= Single submitter atypical hemolytic-uremic syndrome
- p.Glu40Gln Single submitter ⚠
- p.Glu449Asp Single submitter Inborn genetic diseases ⚠
- p.Glu459Gln Single submitter ⚠
- p.Glu462Lys Single submitter ⚠
- p.Glu483Val Single submitter ⚠
- p.Glu544del Single submitter
- p.Glu549Asp Single submitter ⚠
- p.Glu566Lys Single submitter ⚠
- p.Glu566Ter Single submitter
- p.Glu601= Single submitter macular degeneration
- p.Glu621fs Single submitter
- p.Glu635Lys Single submitter ⚠
- p.Glu644Val Single submitter ⚠
- p.Glu674Lys Single submitter ⚠
- p.Glu754Lys Single submitter ⚠
- p.Glu97Asp Single submitter ⚠
- p.Gly112Arg Single submitter macular degeneration ⚠
- p.Gly134Ser Single submitter ⚠
- p.Gly153Val Single submitter ⚠
- p.Gly163Ala Single submitter ⚠
- p.Gly17Asp Single submitter ⚠
- p.Gly194Arg Single submitter ⚠
- p.Gly208Ser Single submitter ⚠
- p.Gly213Arg Single submitter ⚠
- p.Gly21Arg Single submitter ⚠
- p.Gly21Glu Single submitter Inborn genetic diseases ⚠
- p.Gly22Ser Single submitter ⚠
- p.Gly244Val Single submitter
- p.Gly252Asp Single submitter ⚠
- p.Gly41_Val42insTer Single submitter complement factor b deficiency
- p.Gly41Arg Single submitter ⚠
- p.Gly41Glu Single submitter ⚠
- p.Gly429Ala Single submitter Inborn genetic diseases ⚠
- p.Gly47Ser Single submitter ⚠
- p.Gly487Cys Single submitter ⚠
- p.Gly513Glu Single submitter ⚠
- p.Gly568Glu Single submitter ⚠
- p.Gly602Ala Single submitter ⚠
- p.Gly650Glu Single submitter ⚠
- p.Gly665Ser Single submitter ⚠
- p.Gly684Arg Single submitter ⚠
- p.Gly697Arg Single submitter ⚠
- p.Gly762Asp Single submitter ⚠
- p.His484Gln Single submitter ⚠
- p.His491Tyr Single submitter ⚠
- p.His508Asn Single submitter ⚠
- p.His535Tyr Single submitter atypical hemolytic-uremic syndrome with B factor anomaly ⚠
- p.His706Tyr Single submitter ⚠
- p.Ile170Met Single submitter ⚠
- p.Ile170Val Single submitter ⚠
- p.Ile172Met Single submitter ⚠
- p.Ile242Val Single submitter ⚠
- p.Ile261Met Single submitter ⚠
- p.Ile281Thr Single submitter ⚠
- p.Ile320Val Single submitter ⚠
- p.Ile342Thr Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Ile385Leu Single submitter ⚠
- p.Ile385Thr Single submitter ⚠
- p.Ile385Val Single submitter ⚠
- p.Ile399Val Single submitter ⚠
- p.Ile439Thr Single submitter ⚠
- p.Ile44Phe Single submitter ⚠
- p.Ile469= Single submitter
- p.Ile469Phe Single submitter ⚠
- p.Ile550Thr Single submitter Inborn genetic diseases ⚠
- p.Ile569Leu Single submitter ⚠
- p.Ile580Thr Single submitter ⚠
- p.Ile592Thr Single submitter ⚠
- p.Ile743fs Single submitter
- p.Leu183Phe Single submitter ⚠
- p.Leu18Ile Single submitter ⚠
- p.Leu195Phe Single submitter ⚠
- p.Leu235Val Single submitter ⚠
- p.Leu238Arg Single submitter atypical hemolytic-uremic syndrome with B factor anomaly ⚠
- p.Leu275Val Single submitter ⚠
- p.Leu409= Single submitter atypical hemolytic-uremic syndrome with B factor anomaly
- p.Leu433Ser Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Leu582_Lys583del Single submitter
- p.Lys290Arg Single submitter Inborn genetic diseases ⚠
- p.Lys290Ile Single submitter ⚠
- p.Lys291Asn Single submitter ⚠
- p.Lys291Gln Single submitter ⚠
- p.Lys319Asn Single submitter ⚠
- p.Lys357Ala Single submitter
- p.Lys357Glu Single submitter Inborn genetic diseases ⚠
- p.Lys357Thr Single submitter Inborn genetic diseases ⚠
- p.Lys492Arg Single submitter Inborn genetic diseases ⚠
- p.Lys498Arg Single submitter ⚠
- p.Lys564Arg Single submitter ⚠
- p.Lys583Arg Single submitter ⚠
- p.Lys670Glu Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Lys726Arg Single submitter ⚠
- p.Lys86Met Single submitter ⚠
- p.Met223Thr Single submitter ⚠
- p.Met223Val Single submitter ⚠
- p.Met387del Single submitter
- p.Met387Ile Single submitter ⚠
- p.Met387Val Single submitter ⚠
- p.Met394Ile Single submitter ⚠
- p.Met458Thr Single submitter ⚠
- p.Met512Ile Single submitter Inborn genetic diseases ⚠
- p.Met512Val Single submitter ⚠
- p.Phe109Tyr Single submitter Inborn genetic diseases ⚠
- p.Phe528Val Single submitter ⚠
- p.Phe632fs Single submitter atypical hemolytic-uremic syndrome
- p.Phe680Leu Single submitter atypical hemolytic-uremic syndrome ⚠
- p.Pro116Ser Single submitter ⚠
- p.Pro13Thr Single submitter ⚠
- p.Pro216Ala Single submitter ⚠
- p.Pro253Gln Single submitter ⚠
- p.Pro265Ser Single submitter ⚠
- p.Pro373Arg Single submitter ⚠
- p.Pro373Leu Single submitter ⚠
- p.Pro494Gln Single submitter ⚠
- p.Pro494Thr Single submitter Inborn genetic diseases ⚠
- p.Pro611Ser Single submitter ⚠
- p.Pro63Ser Single submitter ⚠
- p.Pro678Arg Single submitter ⚠
- p.Pro678Ser Single submitter ⚠
- p.Pro735Thr Single submitter ⚠
- p.Ser118Phe Single submitter ⚠
- p.Ser179Asn Single submitter ⚠
- p.Ser266Leu Single submitter ⚠
- p.Ser284Cys Single submitter ⚠
- p.Ser330Thr Single submitter ⚠
- p.Ser444Cys Single submitter ⚠
- p.Ser687fs Single submitter atypical hemolytic-uremic syndrome
- p.Ser6Arg Single submitter ⚠