CFHR5 — 359 ClinVar variants

All ClinVar germline CFHR5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 204 flagged for review →

2 Pathogenic · 1 Likely pathogenic · 41 Conflicting · 18 Benign · 19 Benign/Likely benign · 45 Likely benign · 233 Uncertain significance

Full CFHR5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 204

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 17

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

CFHR5 p.Ala547Val Conflicting Single submitter
CFHR5 deficiency
CFHR5 p.Arg206Gln Conflicting Single submitter
CFHR5 deficiency
CFHR5 p.Arg223Ser Conflicting Single submitter
Inborn genetic diseases
CFHR5 p.Arg441His Conflicting Single submitter
Inborn genetic diseases
CFHR5 p.Arg477His Conflicting Single submitter
Inborn genetic diseases
CFHR5 p.Arg555Pro Conflicting Single submitter
Inborn genetic diseases
CFHR5 p.Arg69His Conflicting Single submitter
Inborn genetic diseases
CFHR5 p.Asn40Lys Conflicting Single submitter
Inborn genetic diseases
CFHR5 p.Cys208Arg Conflicting Single submitter
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
CFHR5 p.Cys389Arg Conflicting Single submitter
C3 glomerulonephritis
CFHR5 p.Glu294Lys Conflicting Single submitter
C3 glomerulonephritis
CFHR5 p.Gly228Ala Conflicting Single submitter
atypical hemolytic-uremic syndrome
CFHR5 p.Lys144Asn Conflicting Single submitter
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
CFHR5 p.Met401Thr Conflicting Single submitter
CFHR5 p.Ser78Pro Conflicting Single submitter
CFHR5 p.Thr143Pro Conflicting Single submitter
CFHR5 deficiency
CFHR5 p.Val379Leu Conflicting Single submitter
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II

Predictors lean, ClinVar uncertain 87

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

CFHR5 p.Arg132Gln Uncertain significance Multiple submitters
Inborn genetic diseases
CFHR5 p.Arg364Ser Uncertain significance Multiple submitters
Inborn genetic diseases
CFHR5 p.Arg435Gln Uncertain significance Multiple submitters
C3 glomerulonephritis
CFHR5 p.Asn126His Uncertain significance Multiple submitters
Inborn genetic diseases
CFHR5 p.Cys129Arg Uncertain significance Multiple submitters
Inborn genetic diseases
CFHR5 p.Cys503Tyr Uncertain significance Multiple submitters
C3 glomerulonephritis
CFHR5 p.Gly245Arg Uncertain significance Multiple submitters
C3 glomerulonephritis
CFHR5 p.Ile222Thr Uncertain significance Multiple submitters
CFHR5 deficiency
CFHR5 p.Ile567Val Uncertain significance Multiple submitters
Inborn genetic diseases
CFHR5 p.Lys144Arg Uncertain significance Multiple submitters
Inborn genetic diseases
CFHR5 p.Lys418Asn Uncertain significance Multiple submitters
Inborn genetic diseases
CFHR5 p.Met514Thr Uncertain significance Multiple submitters
Inborn genetic diseases
CFHR5 p.Phe539Val Uncertain significance Multiple submitters
C3 glomerulonephritis
CFHR5 p.Pro566Leu Uncertain significance Multiple submitters
C3 glomerulonephritis
CFHR5 p.Ser164Asn Uncertain significance Multiple submitters
Inborn genetic diseases
CFHR5 p.Thr200Lys Uncertain significance Multiple submitters
C3 glomerulonephritis
CFHR5 p.Ala334Glu Uncertain significance Single submitter
Inborn genetic diseases
CFHR5 p.Ala398Gly Uncertain significance Single submitter
C3 glomerulonephritis
CFHR5 p.Ala414Gly Uncertain significance Single submitter
C3 glomerulonephritis
CFHR5 p.Ala531Ser Uncertain significance Single submitter
C3 glomerulonephritis
CFHR5 p.Ala536Val Uncertain significance Single submitter
C3 glomerulonephritis
CFHR5 p.Arg176Lys Uncertain significance Single submitter
Inborn genetic diseases
CFHR5 p.Asn230Ser Uncertain significance Single submitter
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
CFHR5 p.Asn306Lys Uncertain significance Single submitter
C3 glomerulonephritis
CFHR5 p.Asn420Ser Uncertain significance Single submitter
Inborn genetic diseases
CFHR5 p.Asp38Tyr Uncertain significance Single submitter
Inborn genetic diseases
CFHR5 p.Asp433Glu Uncertain significance Single submitter
Inborn genetic diseases
CFHR5 p.Cys140Phe Uncertain significance Single submitter
CFHR5 p.Cys175Trp Uncertain significance Single submitter
C3 glomerulonephritis
CFHR5 p.Cys251Arg Uncertain significance Single submitter
CFHR5 p.Cys389Phe Uncertain significance Single submitter
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
CFHR5 p.Cys417Arg Uncertain significance Single submitter
CFHR5 p.Cys431Arg Uncertain significance Single submitter
Inborn genetic diseases
CFHR5 p.Cys541Gly Uncertain significance Single submitter
Inborn genetic diseases
CFHR5 p.Cys72Phe Uncertain significance Single submitter
CFHR5 p.Cys72Tyr Uncertain significance Single submitter
C3 glomerulonephritis
CFHR5 p.Cys83Ser Uncertain significance Single submitter
Inborn genetic diseases
CFHR5 p.Gln281Arg Uncertain significance Single submitter
CFHR5 p.Gln281Lys Uncertain significance Single submitter
CFHR5 p.Gln387Lys Uncertain significance Single submitter
CFHR5 p.Glu378Asp Uncertain significance Single submitter
Inborn genetic diseases
CFHR5 p.Glu37Asp Uncertain significance Single submitter
C3 glomerulonephritis
CFHR5 p.Glu75Gly Uncertain significance Single submitter
CFHR5 p.Gly203Glu Uncertain significance Single submitter
CFHR5 p.Gly270Arg Uncertain significance Single submitter
Inborn genetic diseases
CFHR5 p.Gly335Glu Uncertain significance Single submitter
C3 glomerulonephritis
CFHR5 p.Gly373Glu Uncertain significance Single submitter
C3 glomerulonephritis
CFHR5 p.His104Tyr Uncertain significance Single submitter
C3 glomerulonephritis
CFHR5 p.His289Asp Uncertain significance Single submitter
Inborn genetic diseases
CFHR5 p.His326Tyr Uncertain significance Single submitter
Inborn genetic diseases
CFHR5 p.His96Asn Uncertain significance Single submitter
Inborn genetic diseases
CFHR5 p.Ile113Asn Uncertain significance Single submitter
CFHR5 p.Ile180Thr Uncertain significance Single submitter
CFHR5 p.Ile180Val Uncertain significance Single submitter
Inborn genetic diseases
CFHR5 p.Ile304Thr Uncertain significance Single submitter
CFHR5 p.Ile362Met Uncertain significance Single submitter
Inborn genetic diseases
CFHR5 p.Ile549Val Uncertain significance Single submitter
Inborn genetic diseases
CFHR5 p.Lys172Gln Uncertain significance Single submitter
C3 glomerulonephritis
CFHR5 p.Met321Thr Uncertain significance Single submitter
CFHR5 p.Met514Ile Uncertain significance Single submitter
Inborn genetic diseases
CFHR5 p.Met86Ile Uncertain significance Single submitter
CFHR5 p.Met86Val Uncertain significance Single submitter
Inborn genetic diseases
CFHR5 p.Phe25Tyr Uncertain significance Single submitter
CFHR5 p.Phe5Tyr Uncertain significance Single submitter
CFHR5 deficiency
CFHR5 p.Phe91Leu Uncertain significance Single submitter
C3 glomerulonephritis
CFHR5 p.Pro239Leu Uncertain significance Single submitter
Inborn genetic diseases
CFHR5 p.Pro390Ala Uncertain significance Single submitter
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
CFHR5 p.Pro566Ser Uncertain significance Single submitter
CFHR5 p.Ser462Leu Uncertain significance Single submitter
CFHR5 p.Ser466Thr Uncertain significance Single submitter
C3 glomerulonephritis
CFHR5 p.Ser510Pro Uncertain significance Single submitter
C3 glomerulonephritis
CFHR5 p.Ser54Thr Uncertain significance Single submitter
C3 glomerulonephritis
CFHR5 p.Ser6Gly Uncertain significance Single submitter
Inborn genetic diseases
CFHR5 p.Thr116Ala Uncertain significance Single submitter
C3 glomerulonephritis
CFHR5 p.Thr21Ile Uncertain significance Single submitter
CFHR5 p.Thr261Ile Uncertain significance Single submitter
C3 glomerulonephritis
CFHR5 p.Thr446Asn Uncertain significance Single submitter
CFHR5 p.Thr80Lys Uncertain significance Single submitter
CFHR5 p.Trp134Arg Uncertain significance Single submitter
Inborn genetic diseases
CFHR5 p.Tyr235His Uncertain significance Single submitter
CFHR5 p.Tyr39His Uncertain significance Single submitter
Inborn genetic diseases
CFHR5 p.Val130Ile Uncertain significance Single submitter
CFHR5 p.Val405Glu Uncertain significance Single submitter
atypical hemolytic-uremic syndrome
CFHR5 p.Val405Met Uncertain significance Single submitter
CFHR5 p.Val467Ile Uncertain significance Single submitter
C3 glomerulonephritis
CFHR5 p.Asp236Gly Uncertain significance No assertion criteria
atypical hemolytic-uremic syndrome
CFHR5 p.Trp436Cys Uncertain significance No assertion criteria
Variant of unknown significance

Predictors split 100

The independent predictors disagree with each other — read with care.

CFHR5 p.Arg132Trp Uncertain significance Multiple submitters
Inborn genetic diseases
CFHR5 p.Arg354Gly Uncertain significance Multiple submitters
C3 glomerulonephritis
CFHR5 p.Arg356Cys Uncertain significance Multiple submitters
Inborn genetic diseases
CFHR5 p.Arg356His Benign/Likely benign Multiple submitters
CFHR5 deficiency
CFHR5 p.Arg441Cys Uncertain significance Multiple submitters
CFHR5 deficiency
CFHR5 p.Arg85Gly Uncertain significance Multiple submitters
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
CFHR5 p.Asn216Ile Uncertain significance Multiple submitters
atypical hemolytic-uremic syndrome
CFHR5 p.Asn230Asp Uncertain significance Multiple submitters
Inborn genetic diseases
CFHR5 p.Asp24Ala Uncertain significance Multiple submitters
Inborn genetic diseases
CFHR5 p.Asp253Glu Uncertain significance Multiple submitters
C3 glomerulonephritis
CFHR5 p.Asp535Asn Uncertain significance Multiple submitters
C3 glomerulonephritis
CFHR5 p.Asp535Gly Uncertain significance Multiple submitters
Inborn genetic diseases
CFHR5 p.Gln327Pro Uncertain significance Multiple submitters
C3 glomerulonephritis
CFHR5 p.Gln399His Uncertain significance Multiple submitters
C3 glomerulonephritis
CFHR5 p.Glu146Gly Uncertain significance Multiple submitters
Inborn genetic diseases
CFHR5 p.Glu560Lys Uncertain significance Multiple submitters
C3 glomerulonephritis
CFHR5 p.Gly278Ser Benign/Likely benign Multiple submitters
CFHR5 deficiency
CFHR5 p.Gly410Glu Uncertain significance Multiple submitters
Inborn genetic diseases
CFHR5 p.Leu529Arg Benign/Likely benign Multiple submitters
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
CFHR5 p.Phe192Leu Uncertain significance Multiple submitters
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
CFHR5 p.Pro260Leu Uncertain significance Multiple submitters
C3 glomerulonephritis
CFHR5 p.Pro26Ser Uncertain significance Multiple submitters
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
CFHR5 p.Pro453Ser Likely benign Multiple submitters
Inborn genetic diseases
CFHR5 p.Pro46Ser Benign/Likely benign Multiple submitters
CFHR5 deficiency
CFHR5 p.Ser195Thr Uncertain significance Multiple submitters
CFHR5 deficiency
CFHR5 p.Thr533Ala Uncertain significance Multiple submitters
Inborn genetic diseases
CFHR5 p.Val110Ala Benign/Likely benign Multiple submitters
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
CFHR5 p.Val430Ala Uncertain significance Multiple submitters
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
CFHR5 p.Ala324Val Uncertain significance Single submitter
Inborn genetic diseases
CFHR5 p.Arg132Leu Uncertain significance Single submitter
Inborn genetic diseases
CFHR5 p.Arg181Thr Uncertain significance Single submitter
C3 glomerulonephritis
CFHR5 p.Arg356Leu Uncertain significance Single submitter
Inborn genetic diseases
CFHR5 p.Arg477Cys Uncertain significance Single submitter
CFHR5 p.Arg69Cys Conflicting Single submitter
Inborn genetic diseases
CFHR5 p.Asn115Ser Uncertain significance Single submitter
CFHR5 p.Asn216Lys Uncertain significance Single submitter
C3 glomerulonephritis
CFHR5 p.Asn216Ser Conflicting Single submitter
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
CFHR5 p.Asn216Tyr Conflicting Single submitter
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
CFHR5 p.Asn457Asp Conflicting Single submitter
C3 glomerulonephritis
CFHR5 p.Asp169His Uncertain significance Single submitter
Inborn genetic diseases
CFHR5 p.Asp253Gly Uncertain significance Single submitter
CFHR5 p.Gln188Leu Uncertain significance Single submitter
CFHR5 p.Gln479Arg Conflicting Single submitter
C3 glomerulonephritis
CFHR5 p.Gln479Leu Uncertain significance Single submitter
C3 glomerulonephritis
CFHR5 p.Gln496His Uncertain significance Single submitter
Inborn genetic diseases
CFHR5 p.Glu234Lys Conflicting Single submitter
C3 glomerulonephritis
CFHR5 p.Glu444Lys Uncertain significance Single submitter
C3 glomerulonephritis
CFHR5 p.Glu512Ala Uncertain significance Single submitter
CFHR5 p.Gly101Glu Uncertain significance Single submitter
Inborn genetic diseases
CFHR5 p.Gly117Arg Conflicting Single submitter
C3 glomerulonephritis
CFHR5 p.Gly209Asp Uncertain significance Single submitter
CFHR5 p.Gly254Arg Likely benign Single submitter
Inborn genetic diseases
CFHR5 p.Gly290Glu Uncertain significance Single submitter
Inborn genetic diseases
CFHR5 p.Gly434Arg Uncertain significance Single submitter
Inborn genetic diseases
CFHR5 p.Gly471Arg Uncertain significance Single submitter
Inborn genetic diseases
CFHR5 p.Gly471Glu Conflicting Single submitter
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
CFHR5 p.Gly534Arg Uncertain significance Single submitter
C3 glomerulonephritis
CFHR5 p.Gly95Ser Uncertain significance Single submitter
CFHR5 p.His30Gln Uncertain significance Single submitter
Inborn genetic diseases
CFHR5 p.Ile127Val Uncertain significance Single submitter
Inborn genetic diseases
CFHR5 p.Ile249Thr Uncertain significance Single submitter
Inborn genetic diseases
CFHR5 p.Ile304Asn Uncertain significance Single submitter
C3 glomerulonephritis
CFHR5 p.Ile333Met Uncertain significance Single submitter
CFHR5 p.Ile549Met Uncertain significance Single submitter
CFHR5 p.Leu179Ile Uncertain significance Single submitter
C3 glomerulonephritis
CFHR5 p.Leu3Val Uncertain significance Single submitter
C3 glomerulonephritis
CFHR5 p.Leu423Phe Uncertain significance Single submitter
C3 glomerulonephritis
CFHR5 p.Leu521Ile Conflicting Single submitter
C3 glomerulonephritis
CFHR5 p.Lys247Asn Uncertain significance Single submitter
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
CFHR5 p.Lys329Thr Uncertain significance Single submitter
Inborn genetic diseases
CFHR5 p.Lys528Thr Uncertain significance Single submitter
Inborn genetic diseases
CFHR5 p.Met514Arg Conflicting Single submitter
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
CFHR5 p.Phe349Ile Uncertain significance Single submitter
Inborn genetic diseases
CFHR5 p.Pro211Arg Uncertain significance Single submitter
C3 glomerulonephritis
CFHR5 p.Pro212Ser Uncertain significance Single submitter
Inborn genetic diseases
CFHR5 p.Pro391Leu Uncertain significance Single submitter
C3 glomerulonephritis
CFHR5 p.Pro453Ala Uncertain significance Single submitter
C3 glomerulonephritis
CFHR5 p.Pro81Leu Conflicting Single submitter
Inborn genetic diseases
CFHR5 p.Ser128Leu Uncertain significance Single submitter
C3 glomerulonephritis
CFHR5 p.Ser186Leu Likely benign Single submitter
CFHR5 p.Ser292Leu Uncertain significance Single submitter
C3 glomerulonephritis
CFHR5 p.Ser551Pro Uncertain significance Single submitter
C3 glomerulonephritis
CFHR5 p.Thr382Ile Uncertain significance Single submitter
CFHR5 p.Thr461Pro Uncertain significance Single submitter
C3 glomerulonephritis
CFHR5 p.Thr473Lys Uncertain significance Single submitter
Inborn genetic diseases
CFHR5 p.Thr475Met Uncertain significance Single submitter
C3 glomerulonephritis
CFHR5 p.Tyr165His Uncertain significance Single submitter
C3 glomerulonephritis
CFHR5 p.Tyr279Asn Conflicting Single submitter
CFHR5 p.Tyr279Asp Uncertain significance Single submitter
Inborn genetic diseases
CFHR5 p.Tyr287Cys Uncertain significance Single submitter
Inborn genetic diseases
CFHR5 p.Tyr52Phe Uncertain significance Single submitter
Inborn genetic diseases
CFHR5 p.Val167Ala Uncertain significance Single submitter
Inborn genetic diseases
CFHR5 p.Val170Met Conflicting Single submitter
CFHR5 deficiency
CFHR5 p.Val232Ala Uncertain significance Single submitter
CFHR5 p.Val266Met Uncertain significance Single submitter
Inborn genetic diseases
CFHR5 p.Val323Ala Uncertain significance Single submitter
Inborn genetic diseases
CFHR5 p.Val369Gly Uncertain significance Single submitter
atypical hemolytic-uremic syndrome
CFHR5 p.Val508Met Uncertain significance Single submitter
CFHR5 p.Val60Leu Conflicting Single submitter
Inborn genetic diseases
CFHR5 p.Leu105Arg Uncertain significance No assertion criteria
Variant of unknown significance

All CFHR5 variants

Pathogenic 2

c.(58+1_59-1 No assertion criteria atypical hemolytic-uremic syndrome
c.59-1806_430+3225dup No assertion criteria C3 glomerulonephritis

Likely pathogenic 1

p.Arg435Ter Single submitter C3 glomerulonephritis

Conflicting classifications of pathogenicity 41

c.254-2_266dup Single submitter
c.608-6T>C Single submitter CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
c.970+2T>G Single submitter CFHR5 deficiency
p.Ala547= Single submitter CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
p.Ala547Val Single submitter CFHR5 deficiency ⚠
p.Arg206Gln Single submitter CFHR5 deficiency ⚠
p.Arg223Ser Single submitter Inborn genetic diseases ⚠
p.Arg441His Single submitter Inborn genetic diseases ⚠
p.Arg477His Single submitter Inborn genetic diseases ⚠
p.Arg555Pro Single submitter Inborn genetic diseases ⚠
p.Arg69Cys Single submitter Inborn genetic diseases ⚠
p.Arg69His Single submitter Inborn genetic diseases ⚠
p.Asn216Ser Single submitter CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II ⚠
p.Asn216Tyr Single submitter CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II ⚠
p.Asn40Lys Single submitter Inborn genetic diseases ⚠
p.Asn457Asp Single submitter C3 glomerulonephritis ⚠
p.Cys208Arg Single submitter CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II ⚠
p.Cys331Ter Single submitter C3 glomerulonephritis
p.Cys389Arg Single submitter C3 glomerulonephritis ⚠
p.Gln479Arg Single submitter C3 glomerulonephritis ⚠
p.Gln520= Single submitter CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
p.Glu163fs Single submitter kidney disorder
p.Glu226fs Single submitter CFHR5 deficiency
p.Glu234Lys Single submitter C3 glomerulonephritis ⚠
p.Glu294Lys Single submitter C3 glomerulonephritis ⚠
p.Gly117Arg Single submitter C3 glomerulonephritis ⚠
p.Gly228Ala Single submitter atypical hemolytic-uremic syndrome ⚠
p.Gly450= Single submitter CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
p.Gly471Glu Single submitter CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II ⚠
p.Leu521Ile Single submitter C3 glomerulonephritis ⚠
p.Lys144Asn Single submitter CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II ⚠
p.Met401Thr Single submitter ⚠
p.Met514Arg Single submitter CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II ⚠
p.Pro81Leu Single submitter Inborn genetic diseases ⚠
p.Ser78Pro Single submitter ⚠
p.Thr143Pro Single submitter CFHR5 deficiency ⚠
p.Tyr279Asn Single submitter ⚠
p.Tyr301= Single submitter CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
p.Val170Met Single submitter CFHR5 deficiency ⚠
p.Val379Leu Single submitter CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II ⚠
p.Val60Leu Single submitter Inborn genetic diseases ⚠

Benign 18

c.1147+24G>T Multiple submitters
c.253+59C>T Multiple submitters
c.254-183G>A Multiple submitters
c.58+17T>A Multiple submitters CFHR5 deficiency
c.-20T>C Multiple submitters atypical hemolytic-uremic syndrome
c.*741T>G Multiple submitters CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
c.*802T>G Multiple submitters CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
c.253+289C>T Single submitter
c.431-204T>A Single submitter
c.431-228A>G Single submitter
c.58+178T>C Single submitter
c.58+287C>T Single submitter
c.59-145A>G Single submitter
c.*397C>G Single submitter CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
c.*3C>G Single submitter
c.*969T>A Single submitter CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
p.Lys343= Single submitter
p.Val293= Single submitter

Benign/Likely benign 19

c.254-5C>T Multiple submitters CFHR5 deficiency
c.254-8T>G Multiple submitters CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
p.Arg356His Multiple submitters CFHR5 deficiency ⚠
p.Arg385Ser Multiple submitters CFHR5 deficiency
p.Asn178Ser Multiple submitters CFHR5 deficiency
p.Asn244= Multiple submitters CFHR5 deficiency
p.Asn372= Multiple submitters CFHR5 deficiency
p.Asp169= Multiple submitters CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
p.Cys568Ter Multiple submitters kidney disorder
p.Gly145Glu Multiple submitters CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
p.Gly278Ser Multiple submitters CFHR5 deficiency ⚠
p.Leu529Arg Multiple submitters CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II ⚠
p.Lys162= Multiple submitters
p.Pro46Ser Multiple submitters CFHR5 deficiency ⚠
p.Pro81= Multiple submitters CFHR5 deficiency
p.Ser128= Multiple submitters CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
p.Thr143= Multiple submitters CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
p.Val110= Multiple submitters CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
p.Val110Ala Multiple submitters CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II ⚠

Likely benign 45

p.Asn155= Multiple submitters CFHR5 deficiency
p.Glu276Lys Multiple submitters Inborn genetic diseases
p.Gly458Glu Multiple submitters Inborn genetic diseases
p.Leu422Val Multiple submitters atypical hemolytic-uremic syndrome
p.Pro282= Multiple submitters CFHR5 deficiency
p.Pro41Arg Multiple submitters Inborn genetic diseases
p.Pro453Ser Multiple submitters Inborn genetic diseases ⚠
c.1331-16A>G Single submitter
c.1513+13T>C Single submitter
c.253+9del Single submitter
c.431-?_1513+?del Single submitter
c.431-15T>C Single submitter
c.58+19C>T Single submitter
c.59-15T>C Single submitter
c.607+19A>G Single submitter
c.608-11C>T Single submitter
c.608-18A>G Single submitter
c.970+15C>T Single submitter
c.971-11del Single submitter
c.971-20T>C Single submitter
p.Arg132= Single submitter
p.Arg69Leu Single submitter Inborn genetic diseases
p.Asp433= Single submitter
p.Gln159Glu Single submitter
p.Gly17Ala Single submitter Inborn genetic diseases
p.Gly183= Single submitter
p.Gly254Arg Single submitter Inborn genetic diseases ⚠
p.Gly95= Single submitter
p.Leu275= Single submitter
p.Phe543Tyr Single submitter Inborn genetic diseases
p.Pro239= Single submitter
p.Pro282Leu Single submitter Inborn genetic diseases
p.Pro390= Single submitter
p.Ser186Leu Single submitter ⚠
p.Ser207= Single submitter
p.Ser215Pro Single submitter atypical hemolytic-uremic syndrome
p.Ter570= Single submitter
p.Thr475= Single submitter
p.Tyr227= Single submitter
p.Tyr277= Single submitter
p.Tyr530= Single submitter
p.Tyr565= Single submitter
p.Val13= Single submitter
p.Val130= Single submitter
c.*10A>G No assertion criteria CFHR5-related disorder

Uncertain significance 233

c.430+5G>T Multiple submitters
c.607+4A>G Multiple submitters C3 glomerulonephritis
c.608-3T>A Multiple submitters CFHR5 deficiency
p.Arg132Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg132Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg354Gly Multiple submitters C3 glomerulonephritis ⚠
p.Arg356Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg364Ser Multiple submitters Inborn genetic diseases ⚠
p.Arg385fs Multiple submitters C3 glomerulonephritis
p.Arg435Gln Multiple submitters C3 glomerulonephritis ⚠
p.Arg441Cys Multiple submitters CFHR5 deficiency ⚠
p.Arg85Gly Multiple submitters CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II ⚠
p.Asn126His Multiple submitters Inborn genetic diseases ⚠
p.Asn216Ile Multiple submitters atypical hemolytic-uremic syndrome ⚠
p.Asn216Phe Multiple submitters CFHR5 deficiency
p.Asn230Asp Multiple submitters Inborn genetic diseases ⚠
p.Asp24Ala Multiple submitters Inborn genetic diseases ⚠
p.Asp253Glu Multiple submitters C3 glomerulonephritis ⚠
p.Asp409fs Multiple submitters CFHR5 deficiency
p.Asp535Asn Multiple submitters C3 glomerulonephritis ⚠
p.Asp535Gly Multiple submitters Inborn genetic diseases ⚠
p.Cys129Arg Multiple submitters Inborn genetic diseases ⚠
p.Cys503Tyr Multiple submitters C3 glomerulonephritis ⚠
p.Gln250_Cys251delinsArg Multiple submitters C3 glomerulonephritis
p.Gln327Pro Multiple submitters C3 glomerulonephritis ⚠
p.Gln399His Multiple submitters C3 glomerulonephritis ⚠
p.Gln399Ter Multiple submitters CFHR5 deficiency
p.Gln485Ter Multiple submitters C3 glomerulonephritis
p.Glu146Gly Multiple submitters Inborn genetic diseases ⚠
p.Glu348Ter Multiple submitters C3 glomerulonephritis
p.Glu560Lys Multiple submitters C3 glomerulonephritis ⚠
p.Gly245Arg Multiple submitters C3 glomerulonephritis ⚠
p.Gly410Glu Multiple submitters Inborn genetic diseases ⚠
p.Ile222Thr Multiple submitters CFHR5 deficiency ⚠
p.Ile567Val Multiple submitters Inborn genetic diseases ⚠
p.Lys144Arg Multiple submitters Inborn genetic diseases ⚠
p.Lys329del Multiple submitters
p.Lys418Asn Multiple submitters Inborn genetic diseases ⚠
p.Met1Val Multiple submitters CFHR5 deficiency
p.Met514Thr Multiple submitters Inborn genetic diseases ⚠
p.Phe192Leu Multiple submitters CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II ⚠
p.Phe539Val Multiple submitters C3 glomerulonephritis ⚠
p.Pro260Leu Multiple submitters C3 glomerulonephritis ⚠
p.Pro26Ser Multiple submitters CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II ⚠
p.Pro566Leu Multiple submitters C3 glomerulonephritis ⚠
p.Ser164Asn Multiple submitters Inborn genetic diseases ⚠
p.Ser195Thr Multiple submitters CFHR5 deficiency ⚠
p.Thr200Lys Multiple submitters C3 glomerulonephritis ⚠
p.Thr21fs Multiple submitters C3 glomerulonephritis
p.Thr533Ala Multiple submitters Inborn genetic diseases ⚠
p.Val430Ala Multiple submitters CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II ⚠
c.1331-2A>G Single submitter C3 glomerulonephritis
c.1514-2A>G Single submitter C3 glomerulonephritis
c.254-7T>A Single submitter C3 glomerulonephritis
c.430+10A>G Single submitter CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
c.430+4A>G Single submitter C3 glomerulonephritis
c.58+17_58+18delinsAG Single submitter
c.59-20T>G Single submitter C3 glomerulonephritis
c.59-2A>C Single submitter C3 glomerulonephritis
c.608-3T>C Single submitter C3 glomerulonephritis
c.971-6T>G Single submitter
c.*237T>C Single submitter CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
c.*324T>C Single submitter CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
c.*362A>G Single submitter CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
c.*502C>T Single submitter CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
c.*518A>G Single submitter CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
c.*619G>A Single submitter CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
c.*654G>C Single submitter CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
c.*745C>A Single submitter CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
c.*860A>C Single submitter CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
c.*866G>A Single submitter CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
c.*930G>A Single submitter CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
c.*966G>A Single submitter CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
c.*974T>C Single submitter CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
p.Ala324Val Single submitter Inborn genetic diseases ⚠
p.Ala334Glu Single submitter Inborn genetic diseases ⚠
p.Ala398Gly Single submitter C3 glomerulonephritis ⚠
p.Ala414Gly Single submitter C3 glomerulonephritis ⚠
p.Ala531Ser Single submitter C3 glomerulonephritis ⚠
p.Ala536Val Single submitter C3 glomerulonephritis ⚠
p.Arg132Leu Single submitter Inborn genetic diseases ⚠
p.Arg176Lys Single submitter Inborn genetic diseases ⚠
p.Arg181Thr Single submitter C3 glomerulonephritis ⚠
p.Arg206Ter Single submitter C3 glomerulonephritis
p.Arg356Leu Single submitter Inborn genetic diseases ⚠
p.Arg477Cys Single submitter ⚠
p.Asn115Ser Single submitter ⚠
p.Asn178fs Single submitter
p.Asn216Lys Single submitter C3 glomerulonephritis ⚠
p.Asn230Ser Single submitter CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II ⚠
p.Asn306Lys Single submitter C3 glomerulonephritis ⚠
p.Asn350= Single submitter CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
p.Asn420Ser Single submitter Inborn genetic diseases ⚠
p.Asn94_Gly95insLeuGlnAspPhe Single submitter
p.Asp169His Single submitter Inborn genetic diseases ⚠
p.Asp253Gly Single submitter ⚠
p.Asp38Tyr Single submitter Inborn genetic diseases ⚠
p.Asp433Glu Single submitter Inborn genetic diseases ⚠
p.Asp459= Single submitter CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
p.Cys140Phe Single submitter ⚠
p.Cys175Trp Single submitter C3 glomerulonephritis ⚠
p.Cys237Ter Single submitter
p.Cys251Arg Single submitter ⚠
p.Cys269fs Single submitter
p.Cys389Phe Single submitter CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II ⚠
p.Cys417Arg Single submitter ⚠
p.Cys431Arg Single submitter Inborn genetic diseases ⚠
p.Cys541Gly Single submitter Inborn genetic diseases ⚠
p.Cys72Phe Single submitter ⚠
p.Cys72Tyr Single submitter C3 glomerulonephritis ⚠
p.Cys83Ser Single submitter Inborn genetic diseases ⚠
p.Gln111Ter Single submitter CFHR5 deficiency
p.Gln121fs Single submitter C3 glomerulonephritis
p.Gln188Leu Single submitter ⚠
p.Gln281Arg Single submitter ⚠
p.Gln281Lys Single submitter ⚠
p.Gln387Lys Single submitter ⚠
p.Gln44Ter Single submitter C3 glomerulonephritis
p.Gln479Leu Single submitter C3 glomerulonephritis ⚠
p.Gln496fs Single submitter
p.Gln496His Single submitter Inborn genetic diseases ⚠
p.Gln520fs Single submitter
p.Glu19fs Single submitter CFHR5 deficiency
p.Glu218Ter Single submitter C3 glomerulonephritis
p.Glu378Asp Single submitter Inborn genetic diseases ⚠
p.Glu37Asp Single submitter C3 glomerulonephritis ⚠
p.Glu444Lys Single submitter C3 glomerulonephritis ⚠
p.Glu512Ala Single submitter ⚠
p.Glu56= Single submitter
p.Glu560Ter Single submitter Inborn genetic diseases
p.Glu564Ter Single submitter
p.Glu75Gly Single submitter ⚠
p.Gly101Glu Single submitter Inborn genetic diseases ⚠
p.Gly17= Single submitter CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
p.Gly203Glu Single submitter ⚠
p.Gly209Asp Single submitter ⚠
p.Gly270Arg Single submitter Inborn genetic diseases ⚠
p.Gly290Glu Single submitter Inborn genetic diseases ⚠
p.Gly314= Single submitter C3 glomerulonephritis
p.Gly335Glu Single submitter C3 glomerulonephritis ⚠
p.Gly373Glu Single submitter C3 glomerulonephritis ⚠
p.Gly434Arg Single submitter Inborn genetic diseases ⚠
p.Gly471Arg Single submitter Inborn genetic diseases ⚠
p.Gly534Arg Single submitter C3 glomerulonephritis ⚠
p.Gly95Ser Single submitter ⚠
p.His104Tyr Single submitter C3 glomerulonephritis ⚠
p.His289Asp Single submitter Inborn genetic diseases ⚠
p.His30Gln Single submitter Inborn genetic diseases ⚠
p.His326Tyr Single submitter Inborn genetic diseases ⚠
p.His96Asn Single submitter Inborn genetic diseases ⚠
p.Ile113Asn Single submitter ⚠
p.Ile127Val Single submitter Inborn genetic diseases ⚠
p.Ile180Thr Single submitter ⚠
p.Ile180Val Single submitter Inborn genetic diseases ⚠
p.Ile249Thr Single submitter Inborn genetic diseases ⚠
p.Ile304Asn Single submitter C3 glomerulonephritis ⚠
p.Ile304Thr Single submitter ⚠
p.Ile333Met Single submitter ⚠
p.Ile362Met Single submitter Inborn genetic diseases ⚠
p.Ile549Met Single submitter ⚠
p.Ile549Val Single submitter Inborn genetic diseases ⚠
p.Leu179Ile Single submitter C3 glomerulonephritis ⚠
p.Leu3Val Single submitter C3 glomerulonephritis ⚠
p.Leu423Phe Single submitter C3 glomerulonephritis ⚠
p.Lys172Gln Single submitter C3 glomerulonephritis ⚠
p.Lys247Asn Single submitter CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II ⚠
p.Lys329Thr Single submitter Inborn genetic diseases ⚠
p.Lys528Thr Single submitter Inborn genetic diseases ⚠
p.Lys562fs Single submitter C3 glomerulonephritis
p.Met321Thr Single submitter ⚠
p.Met514Ile Single submitter Inborn genetic diseases ⚠
p.Met86Ile Single submitter ⚠
p.Met86Val Single submitter Inborn genetic diseases ⚠
p.Phe25Tyr Single submitter ⚠
p.Phe349Ile Single submitter Inborn genetic diseases ⚠
p.Phe5Tyr Single submitter CFHR5 deficiency ⚠
p.Phe91Leu Single submitter C3 glomerulonephritis ⚠
p.Pro211Arg Single submitter C3 glomerulonephritis ⚠
p.Pro212Ser Single submitter Inborn genetic diseases ⚠
p.Pro239Leu Single submitter Inborn genetic diseases ⚠
p.Pro390Ala Single submitter CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II ⚠
p.Pro391Leu Single submitter C3 glomerulonephritis ⚠
p.Pro453Ala Single submitter C3 glomerulonephritis ⚠
p.Pro470= Single submitter C3 glomerulonephritis
p.Pro566Ser Single submitter ⚠
p.Pro62fs Single submitter Inborn genetic diseases
p.Ser128Leu Single submitter C3 glomerulonephritis ⚠
p.Ser292Leu Single submitter C3 glomerulonephritis ⚠
p.Ser43fs Single submitter C3 glomerulonephritis
p.Ser462Leu Single submitter ⚠
p.Ser466Thr Single submitter C3 glomerulonephritis ⚠
p.Ser510Pro Single submitter C3 glomerulonephritis ⚠
p.Ser54Thr Single submitter C3 glomerulonephritis ⚠
p.Ser551Pro Single submitter C3 glomerulonephritis ⚠
p.Ser6Gly Single submitter Inborn genetic diseases ⚠
p.Ser99fs Single submitter C3 glomerulonephritis
p.Ter570Arg Single submitter C3 glomerulonephritis
p.Thr116Ala Single submitter C3 glomerulonephritis ⚠
p.Thr21Ile Single submitter ⚠
p.Thr261Ile Single submitter C3 glomerulonephritis ⚠
p.Thr325fs Single submitter C3 glomerulonephritis
p.Thr382Ile Single submitter ⚠
p.Thr446Asn Single submitter ⚠
p.Thr461Pro Single submitter C3 glomerulonephritis ⚠
p.Thr473Lys Single submitter Inborn genetic diseases ⚠
p.Thr475Met Single submitter C3 glomerulonephritis ⚠
p.Thr80Lys Single submitter ⚠
p.Trp134Arg Single submitter Inborn genetic diseases ⚠
p.Trp256Ter Single submitter C3 glomerulonephritis
p.Tyr165His Single submitter C3 glomerulonephritis ⚠
p.Tyr165Leu Single submitter
p.Tyr235His Single submitter ⚠
p.Tyr279Asp Single submitter Inborn genetic diseases ⚠
p.Tyr287Cys Single submitter Inborn genetic diseases ⚠
p.Tyr39His Single submitter Inborn genetic diseases ⚠
p.Tyr468fs Single submitter C3 glomerulonephritis
p.Tyr52Phe Single submitter Inborn genetic diseases ⚠
p.Val130Ile Single submitter ⚠
p.Val167Ala Single submitter Inborn genetic diseases ⚠
p.Val232Ala Single submitter ⚠
p.Val263= Single submitter C3 glomerulonephritis
p.Val266Met Single submitter Inborn genetic diseases ⚠
p.Val323Ala Single submitter Inborn genetic diseases ⚠
p.Val369Gly Single submitter atypical hemolytic-uremic syndrome ⚠
p.Val405Glu Single submitter atypical hemolytic-uremic syndrome ⚠
p.Val405Met Single submitter ⚠
p.Val467Ile Single submitter C3 glomerulonephritis ⚠
p.Val508Met Single submitter ⚠
p.Asn299fs No assertion criteria
p.Asp236Gly No assertion criteria atypical hemolytic-uremic syndrome ⚠
p.Leu105Arg No assertion criteria Variant of unknown significance ⚠
p.Ser186Ter No assertion criteria
p.Trp436Cys No assertion criteria Variant of unknown significance ⚠