CFHR2 — 76 ClinVar variants
All ClinVar germline CFHR2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 40 flagged for review →
6 Conflicting · 14 Benign · 7 Benign/Likely benign · 13 Likely benign · 36 Uncertain significance
Full CFHR2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 40
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 10
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CFHR2 p.Val16Ala Uncertain significance Multiple submitters
- CFHR2 p.Arg12Gln Uncertain significance Single submitter
- CFHR2 p.Cys149Phe Uncertain significance Single submitter
- CFHR2 p.Gln196Lys Uncertain significance Single submitter
- CFHR2 p.Gly186Val Uncertain significance Single submitter
- CFHR2 p.Ile219Thr Uncertain significance Single submitter
- CFHR2 p.Ile70Lys Uncertain significance Single submitter
- CFHR2 p.Leu105Gln Uncertain significance Single submitter
- CFHR2 p.Phe22Leu Uncertain significance Single submitter
- CFHR2 p.Pro247Ser Uncertain significance Single submitter
Predictors split 28
The independent predictors disagree with each other — read with care.
-
CFHR2 p.Thr109Ala
Benign/Likely benign
Multiple submitters
kidney disorder
-
CFHR2 p.Thr71Met
Likely benign
Multiple submitters
atypical hemolytic-uremic syndrome
-
CFHR2 p.Tyr264Cys
Likely benign
Multiple submitters
atypical hemolytic-uremic syndrome
- CFHR2 p.Arg254Gln Conflicting Single submitter
- CFHR2 p.Arg69Cys Uncertain significance Single submitter
- CFHR2 p.Asn115Ile Uncertain significance Single submitter
- CFHR2 p.Asn122Lys Uncertain significance Single submitter
- CFHR2 p.Asn225His Conflicting Single submitter
- CFHR2 p.Gln226Pro Uncertain significance Single submitter
- CFHR2 p.Glu131Gly Uncertain significance Single submitter
- CFHR2 p.Glu199Val Uncertain significance Single submitter
- CFHR2 p.Glu215Gly Uncertain significance Single submitter
- CFHR2 p.Gly186Asp Uncertain significance Single submitter
- CFHR2 p.Gly195Arg Uncertain significance Single submitter
- CFHR2 p.Gly31Ala Uncertain significance Single submitter
- CFHR2 p.Gly31Arg Uncertain significance Single submitter
- CFHR2 p.Ile209Met Uncertain significance Single submitter
- CFHR2 p.Ile70Leu Uncertain significance Single submitter
- CFHR2 p.Ile70Val Uncertain significance Single submitter
- CFHR2 p.Phe59Leu Likely benign Single submitter
- CFHR2 p.Phe91Leu Uncertain significance Single submitter
- CFHR2 p.Pro151Ala Uncertain significance Single submitter
- CFHR2 p.Pro153Ser Uncertain significance Single submitter
- CFHR2 p.Pro154Arg Uncertain significance Single submitter
- CFHR2 p.Pro154Ser Uncertain significance Single submitter
- CFHR2 p.Ser11Pro Uncertain significance Single submitter
- CFHR2 p.Tyr52Cys Uncertain significance Single submitter
- CFHR2 p.Val110Ile Uncertain significance Single submitter
All CFHR2 variants
Conflicting classifications of pathogenicity 6
- p.Ala73Thr Single submitter ⚠
- p.Arg254Gln Single submitter ⚠
- p.Asn225His Single submitter ⚠
- p.Ile112fs Single submitter
- p.Ile219fs Single submitter
- p.Lys27Glu Single submitter ⚠
Benign 14
- c.430+141T>A Multiple submitters
- c.430+20C>T Multiple submitters
- c.431-48C>A Multiple submitters
- c.431-65C>T Multiple submitters
- c.58+129C>G Multiple submitters
- c.-65C>G Multiple submitters
- p.Cys140= Multiple submitters
- p.Thr71= Multiple submitters atypical hemolytic-uremic syndrome
- c.431-222C>T Single submitter
- c.59-12T>C Single submitter
- c.613+225T>G Single submitter
- c.614-220G>A Single submitter
- c.614-223A>G Single submitter
- c.614-240T>A Single submitter
Benign/Likely benign 7
- c.430+7G>A Multiple submitters
- p.Arg132Gln Multiple submitters
- p.Arg254Ter Multiple submitters
- p.Cys72Tyr Multiple submitters atypical hemolytic-uremic syndrome
- p.Glu199Ter Multiple submitters complement 3 glomerulopathy
- p.Lys38= Multiple submitters
- p.Thr109Ala Multiple submitters kidney disorder ⚠
Likely benign 13
- p.Arg69Leu Multiple submitters
- p.Asn180= Multiple submitters
- p.Thr71Met Multiple submitters atypical hemolytic-uremic syndrome ⚠
- p.Tyr264Cys Multiple submitters atypical hemolytic-uremic syndrome ⚠
- c.253+13C>T Single submitter
- c.254-6C>G Single submitter
- p.Phe59Leu Single submitter ⚠
- p.Ser166Pro Single submitter
- p.Ser65= Single submitter
- p.Thr191= Single submitter
- p.Val167= Single submitter
- p.Val263Ile Single submitter
- p.Val92Glu Single submitter
Uncertain significance 36
- p.Ser6_Val7insTer Multiple submitters
- p.Val16Ala Multiple submitters ⚠
- c.431-3dup Single submitter
- c.-5C>G Single submitter
- p.Arg12Gln Single submitter ⚠
- p.Arg69Cys Single submitter ⚠
- p.Asn115Ile Single submitter ⚠
- p.Asn122Lys Single submitter ⚠
- p.Cys149Phe Single submitter ⚠
- p.Gln196Lys Single submitter ⚠
- p.Gln226Pro Single submitter ⚠
- p.Glu131Gly Single submitter ⚠
- p.Glu199Val Single submitter ⚠
- p.Glu215Gly Single submitter ⚠
- p.Gly186Asp Single submitter ⚠
- p.Gly186Val Single submitter ⚠
- p.Gly195Arg Single submitter ⚠
- p.Gly31Ala Single submitter ⚠
- p.Gly31Arg Single submitter ⚠
- p.Ile209Met Single submitter ⚠
- p.Ile219Thr Single submitter ⚠
- p.Ile70Leu Single submitter ⚠
- p.Ile70Lys Single submitter ⚠
- p.Ile70Val Single submitter ⚠
- p.Leu105Gln Single submitter ⚠
- p.Phe22Leu Single submitter ⚠
- p.Phe91Leu Single submitter ⚠
- p.Pro151Ala Single submitter ⚠
- p.Pro153Ser Single submitter ⚠
- p.Pro154Arg Single submitter ⚠
- p.Pro154Ser Single submitter ⚠
- p.Pro247Ser Single submitter ⚠
- p.Ser11Pro Single submitter ⚠
- p.Tyr52Cys Single submitter ⚠
- p.Val110Ile Single submitter ⚠
- c.430+1G>A No assertion criteria High myopia