CFHR4 — 200 ClinVar variants
All ClinVar germline CFHR4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 140 flagged for review →
15 Conflicting · 20 Benign · 11 Benign/Likely benign · 42 Likely benign · 112 Uncertain significance
Full CFHR4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 140
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 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 36
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CFHR4 p.Tyr238Ser Uncertain significance Multiple submitters
- CFHR4 p.Asn17Lys Uncertain significance Single submitter
- CFHR4 p.Asn256His Uncertain significance Single submitter
- CFHR4 p.Cys149Arg Uncertain significance Single submitter
- CFHR4 p.Cys149Ser Uncertain significance Single submitter
- CFHR4 p.Cys15Phe Uncertain significance Single submitter
- CFHR4 p.Cys204Trp Uncertain significance Single submitter
- CFHR4 p.Cys211Arg Uncertain significance Single submitter
- CFHR4 p.Cys458Arg Uncertain significance Single submitter
- CFHR4 p.Cys487Arg Uncertain significance Single submitter
- CFHR4 p.Gln19Lys Uncertain significance Single submitter
- CFHR4 p.Gly138Val Uncertain significance Single submitter
- CFHR4 p.Gly248Val Uncertain significance Single submitter
- CFHR4 p.His514Gln Uncertain significance Single submitter
- CFHR4 p.Ile360Thr Uncertain significance Single submitter
- CFHR4 p.Ile528Thr Uncertain significance Single submitter
- CFHR4 p.Ile536Val Uncertain significance Single submitter
- CFHR4 p.Leu4Ile Uncertain significance Single submitter
- CFHR4 p.Leu552Phe Uncertain significance Single submitter
- CFHR4 p.Leu561Pro Uncertain significance Single submitter
- CFHR4 p.Lys358Glu Uncertain significance Single submitter
- CFHR4 p.Lys533Arg Uncertain significance Single submitter
- CFHR4 p.Pro152Thr Uncertain significance Single submitter
- CFHR4 p.Pro263Ala Uncertain significance Single submitter
- CFHR4 p.Pro274Leu Uncertain significance Single submitter
- CFHR4 p.Pro510Ser Uncertain significance Single submitter
- CFHR4 p.Pro510Thr Uncertain significance Single submitter
- CFHR4 p.Ser14Tyr Uncertain significance Single submitter
- CFHR4 p.Ser224Cys Uncertain significance Single submitter
- CFHR4 p.Ser430Asn Uncertain significance Single submitter
- CFHR4 p.Ser507Pro Uncertain significance Single submitter
- CFHR4 p.Ser534Asn Uncertain significance Single submitter
- CFHR4 p.Trp233Arg Uncertain significance Single submitter
- CFHR4 p.Trp386Leu Uncertain significance Single submitter
- CFHR4 p.Trp506Cys Uncertain significance Single submitter
- CFHR4 p.Tyr230Cys Uncertain significance Single submitter
Predictors split 102
The independent predictors disagree with each other — read with care.
- CFHR4 p.Ala159Val Uncertain significance Multiple submitters
- CFHR4 p.Arg40His Uncertain significance Multiple submitters
- CFHR4 p.Gln389Leu Likely benign Multiple submitters
- CFHR4 p.Glu349Lys Likely benign Multiple submitters
- CFHR4 p.Gly553Glu Benign/Likely benign Multiple submitters
- CFHR4 p.Ile318Thr Uncertain significance Multiple submitters
- CFHR4 p.Ile347Val Likely benign Multiple submitters
- CFHR4 p.Ser199Tyr Uncertain significance Multiple submitters
- CFHR4 p.Ser507Leu Uncertain significance Multiple submitters
- CFHR4 p.Thr309Ser Likely benign Multiple submitters
- CFHR4 p.Trp233Cys Likely benign Multiple submitters
-
CFHR4 p.Tyr35His
Likely benign
Multiple submitters
kidney disorder
- CFHR4 p.Tyr362His Likely benign Multiple submitters
-
CFHR4 p.Tyr43Phe
Likely benign
Multiple submitters
atypical hemolytic-uremic syndrome
- CFHR4 p.Val21Ala Benign/Likely benign Multiple submitters
- CFHR4 p.Val93Ala Likely benign Multiple submitters
- CFHR4 p.Ala124Glu Uncertain significance Single submitter
- CFHR4 p.Ala294Pro Uncertain significance Single submitter
- CFHR4 p.Arg287Cys Uncertain significance Single submitter
- CFHR4 p.Arg333Lys Conflicting Single submitter
-
CFHR4 p.Arg40Cys
Conflicting
Single submitter
kidney disorder
- CFHR4 p.Arg412Gln Conflicting Single submitter
- CFHR4 p.Asn206Ser Conflicting Single submitter
- CFHR4 p.Asn527Lys Uncertain significance Single submitter
- CFHR4 p.Asn6Asp Conflicting Single submitter
- CFHR4 p.Asp173His Uncertain significance Single submitter
- CFHR4 p.Asp25Gly Uncertain significance Single submitter
- CFHR4 p.Asp304Glu Uncertain significance Single submitter
- CFHR4 p.Asp397Asn Uncertain significance Single submitter
- CFHR4 p.Asp425Asn Uncertain significance Single submitter
- CFHR4 p.Asp425His Likely benign Single submitter
- CFHR4 p.Asp535Gly Uncertain significance Single submitter
- CFHR4 p.Gln30Lys Likely benign Single submitter
- CFHR4 p.Gln322Lys Uncertain significance Single submitter
- CFHR4 p.Gln389Lys Uncertain significance Single submitter
- CFHR4 p.Gln488His Likely benign Single submitter
- CFHR4 p.Gln58His Uncertain significance Single submitter
- CFHR4 p.Glu237Lys Uncertain significance Single submitter
- CFHR4 p.Glu284Lys Uncertain significance Single submitter
- CFHR4 p.Glu341Asp Uncertain significance Single submitter
- CFHR4 p.Glu402Gly Uncertain significance Single submitter
- CFHR4 p.Glu456Gly Likely benign Single submitter
- CFHR4 p.Glu578Lys Uncertain significance Single submitter
- CFHR4 p.Gly120Ala Uncertain significance Single submitter
- CFHR4 p.Gly120Val Uncertain significance Single submitter
- CFHR4 p.Gly163Asp Uncertain significance Single submitter
- CFHR4 p.Gly257Arg Benign Single submitter
- CFHR4 p.Gly296Ala Uncertain significance Single submitter
- CFHR4 p.Gly373Arg Uncertain significance Single submitter
- CFHR4 p.Gly385Arg Uncertain significance Single submitter
- CFHR4 p.Gly426Glu Uncertain significance Single submitter
- CFHR4 p.Gly444Glu Uncertain significance Single submitter
- CFHR4 p.Gly467Ser Uncertain significance Single submitter
- CFHR4 p.His169Pro Uncertain significance Single submitter
- CFHR4 p.His278Arg Uncertain significance Single submitter
- CFHR4 p.His278Tyr Uncertain significance Single submitter
- CFHR4 p.Ile340Thr Uncertain significance Single submitter
- CFHR4 p.Ile355Val Uncertain significance Single submitter
- CFHR4 p.Ile360Val Uncertain significance Single submitter
- CFHR4 p.Ile528Met Uncertain significance Single submitter
- CFHR4 p.Lys160Thr Uncertain significance Single submitter
- CFHR4 p.Lys269Thr Uncertain significance Single submitter
- CFHR4 p.Met164Arg Uncertain significance Single submitter
- CFHR4 p.Met398Thr Likely benign Single submitter
- CFHR4 p.Met411Arg Uncertain significance Single submitter
- CFHR4 p.Pro202Ser Uncertain significance Single submitter
- CFHR4 p.Pro23Leu Uncertain significance Single submitter
- CFHR4 p.Pro310Leu Uncertain significance Single submitter
- CFHR4 p.Pro390Thr Uncertain significance Single submitter
- CFHR4 p.Pro461Leu Uncertain significance Single submitter
- CFHR4 p.Ser105Cys Uncertain significance Single submitter
- CFHR4 p.Ser199Phe Conflicting Single submitter
- CFHR4 p.Ser218Arg Uncertain significance Single submitter
- CFHR4 p.Ser234Thr Uncertain significance Single submitter
- CFHR4 p.Ser352Phe Uncertain significance Single submitter
- CFHR4 p.Ser352Pro Uncertain significance Single submitter
- CFHR4 p.Ser408Asn Uncertain significance Single submitter
- CFHR4 p.Ser455Ala Uncertain significance Single submitter
- CFHR4 p.Ser489Pro Likely benign Single submitter
- CFHR4 p.Ser502Asn Uncertain significance Single submitter
- CFHR4 p.Ser502Thr Uncertain significance Single submitter
- CFHR4 p.Thr133Ile Uncertain significance Single submitter
- CFHR4 p.Thr222Pro Uncertain significance Single submitter
- CFHR4 p.Thr223Met Uncertain significance Single submitter
- CFHR4 p.Thr253Ile Likely benign Single submitter
- CFHR4 p.Thr328Ile Conflicting Single submitter
- CFHR4 p.Thr370Arg Uncertain significance Single submitter
- CFHR4 p.Thr434Ile Uncertain significance Single submitter
- CFHR4 p.Thr469Ile Likely benign Single submitter
- CFHR4 p.Thr545Ala Uncertain significance Single submitter
- CFHR4 p.Thr62Ile Conflicting Single submitter
- CFHR4 p.Thr81Met Likely benign Single submitter
- CFHR4 p.Tyr205Cys Uncertain significance Single submitter
- CFHR4 p.Tyr205His Conflicting Single submitter
- CFHR4 p.Tyr290Cys Uncertain significance Single submitter
- CFHR4 p.Tyr491Cys Uncertain significance Single submitter
- CFHR4 p.Tyr538His Conflicting Single submitter
- CFHR4 p.Tyr539Phe Uncertain significance Single submitter
- CFHR4 p.Tyr554Cys Uncertain significance Single submitter
- CFHR4 p.Tyr70Cys Uncertain significance Single submitter
- CFHR4 p.Val476Ala Uncertain significance Single submitter
- CFHR4 p.Val572Ala Uncertain significance Single submitter
All CFHR4 variants
Conflicting classifications of pathogenicity 15
- c.1180+2T>C Single submitter
- c.799+3A>C Single submitter
- p.Arg333Lys Single submitter ⚠
- p.Arg40Cys Single submitter kidney disorder ⚠
- p.Arg412Gln Single submitter ⚠
- p.Arg41Ter Single submitter
- p.Asn206Ser Single submitter ⚠
- p.Asn6Asp Single submitter ⚠
- p.Lys551Thr Single submitter ⚠
- p.Ser199Phe Single submitter ⚠
- p.Thr328Ile Single submitter ⚠
- p.Thr62Ile Single submitter ⚠
- p.Tyr205His Single submitter ⚠
- p.Tyr491Asp Single submitter ⚠
- p.Tyr538His Single submitter ⚠
Benign 20
- c.1181-156T>A Multiple submitters
- c.1541-159T>G Multiple submitters
- c.1541-66G>A Multiple submitters
- c.617-12A>C Multiple submitters
- p.Asn210Ser Multiple submitters
- p.Glu125Asp Multiple submitters
- c.1180+292A>G Single submitter
- c.1181-253G>A Single submitter
- c.1358-127G>A Single submitter
- c.1358-132del Single submitter
- c.1358-132dup Single submitter
- c.59-14T>C Single submitter
- c.799+18T>C Single submitter
- c.799+251C>T Single submitter
- c.800-116del Single submitter
- c.800-2A>G Single submitter
- c.998-270G>C Single submitter
- p.Glu402= Single submitter
- p.Gly257Arg Single submitter ⚠
- p.Lys533Asn Single submitter
Benign/Likely benign 11
- c.1180+4A>C Multiple submitters
- p.Asn116Lys Multiple submitters
- p.Asp258Glu Multiple submitters
- p.Asp76= Multiple submitters atypical hemolytic-uremic syndrome
- p.Gly553Glu Multiple submitters ⚠
- p.Lys394= Multiple submitters
- p.Pro510= Multiple submitters
- p.Ser53= Multiple submitters
- p.Thr81= Multiple submitters
- p.Val21Ala Multiple submitters ⚠
- p.Val93Ile Multiple submitters
Likely benign 42
- p.Arg412= Multiple submitters
- p.Arg412Trp Multiple submitters
- p.Gln389Leu Multiple submitters ⚠
- p.Glu349Lys Multiple submitters ⚠
- p.Gly377= Multiple submitters
- p.Gly570= Multiple submitters
- p.Ile347Val Multiple submitters ⚠
- p.Leu561Ile Multiple submitters
- p.Thr309Ser Multiple submitters ⚠
- p.Trp233Cys Multiple submitters ⚠
- p.Tyr35His Multiple submitters kidney disorder ⚠
- p.Tyr362His Multiple submitters ⚠
- p.Tyr43Phe Multiple submitters atypical hemolytic-uremic syndrome ⚠
- p.Val93Ala Multiple submitters ⚠
- c.1181-20T>C Single submitter
- c.1358-4dup Single submitter
- c.440-11T>C Single submitter
- c.998-18_998-17delinsTG Single submitter
- p.Asn210Lys Single submitter
- p.Asp189Gly Single submitter
- p.Asp425His Single submitter ⚠
- p.Cys265= Single submitter
- p.Gln30Lys Single submitter ⚠
- p.Gln488His Single submitter ⚠
- p.Glu456Gly Single submitter ⚠
- p.Gly98= Single submitter
- p.His319= Single submitter
- p.Ile379= Single submitter
- p.Leu231Val Single submitter
- p.Leu419= Single submitter
- p.Met398Thr Single submitter ⚠
- p.Pro515= Single submitter
- p.Ser489Pro Single submitter ⚠
- p.Thr187= Single submitter
- p.Thr253Ile Single submitter ⚠
- p.Thr286Met Single submitter
- p.Thr309= Single submitter
- p.Thr380= Single submitter
- p.Thr469Ile Single submitter ⚠
- p.Thr81Met Single submitter ⚠
- p.Trp445Ter Single submitter
- p.Tyr121= Single submitter
Uncertain significance 112
- p.Ala159Val Multiple submitters ⚠
- p.Arg40His Multiple submitters ⚠
- p.Ile318Thr Multiple submitters ⚠
- p.Ser199Tyr Multiple submitters ⚠
- p.Ser507Leu Multiple submitters ⚠
- p.Trp68Ter Multiple submitters
- p.Tyr238Ser Multiple submitters ⚠
- c.1540+6T>G Single submitter
- p.Ala124Glu Single submitter ⚠
- p.Ala294Pro Single submitter ⚠
- p.Arg287Cys Single submitter ⚠
- p.Asn17Lys Single submitter ⚠
- p.Asn256His Single submitter ⚠
- p.Asn527Lys Single submitter ⚠
- p.Asp173His Single submitter ⚠
- p.Asp25Gly Single submitter ⚠
- p.Asp304Glu Single submitter ⚠
- p.Asp397Asn Single submitter ⚠
- p.Asp425Asn Single submitter ⚠
- p.Asp535Gly Single submitter ⚠
- p.Asp544fs Single submitter
- p.Cys149Arg Single submitter ⚠
- p.Cys149Ser Single submitter ⚠
- p.Cys15Phe Single submitter ⚠
- p.Cys204Trp Single submitter ⚠
- p.Cys211Arg Single submitter ⚠
- p.Cys458Arg Single submitter ⚠
- p.Cys487Arg Single submitter ⚠
- p.Cys577Ter Single submitter
- p.Gln19Lys Single submitter ⚠
- p.Gln322Lys Single submitter ⚠
- p.Gln389Lys Single submitter ⚠
- p.Gln58His Single submitter ⚠
- p.Glu237Lys Single submitter ⚠
- p.Glu284Lys Single submitter ⚠
- p.Glu341Asp Single submitter ⚠
- p.Glu402Gly Single submitter ⚠
- p.Glu578Lys Single submitter ⚠
- p.Gly120Ala Single submitter ⚠
- p.Gly120Val Single submitter ⚠
- p.Gly138Val Single submitter ⚠
- p.Gly163Asp Single submitter ⚠
- p.Gly248Val Single submitter ⚠
- p.Gly296Ala Single submitter ⚠
- p.Gly373Arg Single submitter ⚠
- p.Gly385Arg Single submitter ⚠
- p.Gly426Glu Single submitter ⚠
- p.Gly444Glu Single submitter ⚠
- p.Gly467Ser Single submitter ⚠
- p.His169Pro Single submitter ⚠
- p.His278Arg Single submitter ⚠
- p.His278Tyr Single submitter ⚠
- p.His514Gln Single submitter ⚠
- p.Ile340Thr Single submitter ⚠
- p.Ile355Val Single submitter ⚠
- p.Ile360Thr Single submitter ⚠
- p.Ile360Val Single submitter ⚠
- p.Ile528Met Single submitter ⚠
- p.Ile528Thr Single submitter ⚠
- p.Ile536Val Single submitter ⚠
- p.Leu4Ile Single submitter ⚠
- p.Leu552Phe Single submitter ⚠
- p.Leu561Pro Single submitter ⚠
- p.Lys160Thr Single submitter ⚠
- p.Lys269Thr Single submitter ⚠
- p.Lys358Glu Single submitter ⚠
- p.Lys533Arg Single submitter ⚠
- p.Met164Arg Single submitter ⚠
- p.Met411Arg Single submitter ⚠
- p.Pro152Thr Single submitter ⚠
- p.Pro202Ser Single submitter ⚠
- p.Pro23Leu Single submitter ⚠
- p.Pro263Ala Single submitter ⚠
- p.Pro274Leu Single submitter ⚠
- p.Pro310Leu Single submitter ⚠
- p.Pro390Thr Single submitter ⚠
- p.Pro461Leu Single submitter ⚠
- p.Pro510Ser Single submitter ⚠
- p.Pro510Thr Single submitter ⚠
- p.Ser105Cys Single submitter ⚠
- p.Ser14Tyr Single submitter ⚠
- p.Ser218Arg Single submitter ⚠
- p.Ser224Cys Single submitter ⚠
- p.Ser234Thr Single submitter ⚠
- p.Ser352Phe Single submitter ⚠
- p.Ser352Pro Single submitter ⚠
- p.Ser408Asn Single submitter ⚠
- p.Ser430Asn Single submitter ⚠
- p.Ser455Ala Single submitter ⚠
- p.Ser502Asn Single submitter ⚠
- p.Ser502Thr Single submitter ⚠
- p.Ser507Pro Single submitter ⚠
- p.Ser534Asn Single submitter ⚠
- p.Thr133Ile Single submitter ⚠
- p.Thr222Pro Single submitter ⚠
- p.Thr223Met Single submitter ⚠
- p.Thr370Arg Single submitter ⚠
- p.Thr434Ile Single submitter ⚠
- p.Thr545Ala Single submitter ⚠
- p.Trp233Arg Single submitter ⚠
- p.Trp386Leu Single submitter ⚠
- p.Trp506Cys Single submitter ⚠
- p.Tyr205Cys Single submitter ⚠
- p.Tyr230Cys Single submitter ⚠
- p.Tyr290Cys Single submitter ⚠
- p.Tyr491Cys Single submitter ⚠
- p.Tyr539Phe Single submitter ⚠
- p.Tyr554Cys Single submitter ⚠
- p.Tyr70Cys Single submitter ⚠
- p.Val476Ala Single submitter ⚠
- p.Val572Ala Single submitter ⚠
- p.Val82Ile Single submitter