CFHR1 — 124 ClinVar variants
All ClinVar germline CFHR1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 53 flagged for review →
1 Likely pathogenic · 8 Conflicting · 41 Benign · 1 Benign/Likely benign · 19 Likely benign · 54 Uncertain significance
Full CFHR1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 53
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 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
Predictors agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 23
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CFHR1 p.Ile214Asn
Uncertain significance
Multiple submitters
hemolytic uremic syndrome, atypical, susceptibility to, 1
-
CFHR1 p.Ile70Val
Uncertain significance
Multiple submitters
hemolytic uremic syndrome, atypical, susceptibility to, 1
-
CFHR1 p.Tyr304Cys
Uncertain significance
Multiple submitters
chronic kidney disease
-
CFHR1 p.Ala20Glu
Uncertain significance
Single submitter
cerebral amyloid angiopathy, APP-related
- CFHR1 p.Ala228Pro Uncertain significance Single submitter
- CFHR1 p.Ala279Thr Uncertain significance Single submitter
- CFHR1 p.Arg12Gln Uncertain significance Single submitter
- CFHR1 p.Asn125Ser Uncertain significance Single submitter
- CFHR1 p.Asn216Ile Uncertain significance Single submitter
-
CFHR1 p.Asp215Asn
Uncertain significance
Single submitter
hemolytic uremic syndrome, atypical, susceptibility to, 1
- CFHR1 p.Asp319Asn Uncertain significance Single submitter
- CFHR1 p.Cys237Ser Uncertain significance Single submitter
- CFHR1 p.Cys300Tyr Uncertain significance Single submitter
- CFHR1 p.Cys317Arg Uncertain significance Single submitter
- CFHR1 p.Gly217Arg Uncertain significance Single submitter
- CFHR1 p.Pro137Leu Uncertain significance Single submitter
- CFHR1 p.Pro211Arg Uncertain significance Single submitter
- CFHR1 p.Thr143Ala Uncertain significance Single submitter
- CFHR1 p.Thr47Ala Uncertain significance Single submitter
- CFHR1 p.Trp256Arg Uncertain significance Single submitter
- CFHR1 p.Tyr53Ser Uncertain significance Single submitter
- CFHR1 p.Val130Leu Uncertain significance Single submitter
- CFHR1 p.Val267Ile Uncertain significance Single submitter
Predictors split 28
The independent predictors disagree with each other — read with care.
- CFHR1 p.Asp218Asn Uncertain significance Multiple submitters
- CFHR1 p.Gln242Glu Benign Multiple submitters
- CFHR1 p.Pro223Leu Uncertain significance Multiple submitters
- CFHR1 p.Tyr304His Likely benign Multiple submitters
- CFHR1 p.Arg132Trp Uncertain significance Single submitter
- CFHR1 p.Arg305Pro Uncertain significance Single submitter
- CFHR1 p.Arg309Cys Uncertain significance Single submitter
- CFHR1 p.Asn277Asp Uncertain significance Single submitter
- CFHR1 p.Glu187Asp Uncertain significance Single submitter
- CFHR1 p.Glu297Lys Conflicting Single submitter
- CFHR1 p.Gly293Asp Uncertain significance Single submitter
- CFHR1 p.Gly31Ala Uncertain significance Single submitter
-
CFHR1 p.Leu243Val
Uncertain significance
Single submitter
chronic kidney disease
-
CFHR1 p.Leu290Ser
Conflicting
Single submitter
hemolytic uremic syndrome, atypical, susceptibility to, 1
- CFHR1 p.Leu4Gln Uncertain significance Single submitter
- CFHR1 p.Lys165Glu Uncertain significance Single submitter
- CFHR1 p.Lys287Asn Uncertain significance Single submitter
- CFHR1 p.Lys329Ile Uncertain significance Single submitter
- CFHR1 p.Pro210Leu Uncertain significance Single submitter
- CFHR1 p.Pro265Gln Uncertain significance Single submitter
- CFHR1 p.Pro79Gln Uncertain significance Single submitter
- CFHR1 p.Thr109Ile Likely benign Single submitter
- CFHR1 p.Thr145Ala Uncertain significance Single submitter
- CFHR1 p.Thr68Ala Uncertain significance Single submitter
- CFHR1 p.Thr73Ala Uncertain significance Single submitter
- CFHR1 p.Trp67Cys Uncertain significance Single submitter
- CFHR1 p.Tyr289Phe Uncertain significance Single submitter
- CFHR1 p.Tyr39Cys Uncertain significance Single submitter
All CFHR1 variants
Likely pathogenic 1
- p.Ala296Val Single submitter ⚠
Conflicting classifications of pathogenicity 8
- c.431-2A>G Single submitter
- c.59-14T>C Single submitter
- c.790+1G>A Single submitter chronic kidney disease
- p.Glu297Lys Single submitter ⚠
- p.His104Tyr Single submitter ⚠
- p.Leu290Ser Single submitter hemolytic uremic syndrome, atypical, susceptibility to, 1 ⚠
- p.Ser6_Val7insTer Single submitter hemolytic uremic syndrome, atypical, susceptibility to, 1
- p.Ter331Trp Single submitter
Benign 41
- c.253+108G>C Multiple submitters
- c.253+213G>A Multiple submitters
- c.253+217T>G Multiple submitters
- c.253+291G>A Multiple submitters
- c.253+66G>A Multiple submitters
- c.254-110A>G Multiple submitters
- c.254-115C>T Multiple submitters
- c.254-198C>G Multiple submitters
- c.254-218C>T Multiple submitters
- c.430+105T>A Multiple submitters
- c.430+49G>A Multiple submitters
- c.431-156T>C Multiple submitters
- c.431-77C>T Multiple submitters
- c.58+129C>G Multiple submitters
- c.59-181G>C Multiple submitters
- c.59-88C>T Multiple submitters
- c.608-90T>C Multiple submitters
- c.790+139T>C Multiple submitters
- c.790+36A>T Multiple submitters
- c.790+37G>C Multiple submitters
- c.*61C>A Multiple submitters
- p.Arg302= Multiple submitters
- p.Arg314= Multiple submitters
- p.Asn149= Multiple submitters kidney disorder
- p.Gln242Glu Multiple submitters ⚠
- p.Glu175Gln Multiple submitters
- p.His157Tyr Multiple submitters
- p.Leu159Val Multiple submitters
- p.Pro223= Multiple submitters
- p.Thr196= Multiple submitters
- c.430+226C>T Single submitter
- c.431-312_431-311insC Single submitter
- c.58+168A>G Single submitter
- c.59-158_59-157insT Single submitter
- c.59-161G>A Single submitter
- c.607+117T>C Single submitter
- c.607+257T>G Single submitter
- c.608-197C>T Single submitter
- c.790+261T>C Single submitter
- c.790+291G>A Single submitter
- p.Asp35= Single submitter
Benign/Likely benign 1
- p.Val45Phe Multiple submitters
Likely benign 19
- p.Arg270Gln Multiple submitters
- p.Ter331IleextTer? Multiple submitters
- p.Thr145= Multiple submitters
- p.Tyr304His Multiple submitters ⚠
- c.607+123G>T Single submitter
- c.607+800G>A Single submitter
- c.608-145A>G Single submitter
- c.608-979T>G Single submitter
- c.791-338A>C Single submitter
- c.791-38C>T Single submitter
- p.Asp218= Single submitter
- p.Gly184= Single submitter
- p.Leu86= Single submitter
- p.Pro325= Single submitter
- p.Ser65= Single submitter
- p.Thr109Ile Single submitter ⚠
- p.Thr205= Single submitter
- p.Thr205Met Single submitter
- p.Val16Ala Single submitter
Uncertain significance 54
- p.Asp218Asn Multiple submitters ⚠
- p.Ile214Asn Multiple submitters hemolytic uremic syndrome, atypical, susceptibility to, 1 ⚠
- p.Ile70Val Multiple submitters hemolytic uremic syndrome, atypical, susceptibility to, 1 ⚠
- p.Pro223Leu Multiple submitters ⚠
- p.Tyr304Cys Multiple submitters chronic kidney disease ⚠
- c.253+1G>T Single submitter
- c.790+4A>G Single submitter
- c.791-17C>G Single submitter
- c.*8C>A Single submitter
- p.Ala20Glu Single submitter cerebral amyloid angiopathy, APP-related ⚠
- p.Ala228Pro Single submitter ⚠
- p.Ala279Thr Single submitter ⚠
- p.Arg12Gln Single submitter ⚠
- p.Arg132Trp Single submitter ⚠
- p.Arg305Pro Single submitter ⚠
- p.Arg309Cys Single submitter ⚠
- p.Asn125Ser Single submitter ⚠
- p.Asn216Ile Single submitter ⚠
- p.Asn277Asp Single submitter ⚠
- p.Asp215Asn Single submitter hemolytic uremic syndrome, atypical, susceptibility to, 1 ⚠
- p.Asp319Asn Single submitter ⚠
- p.Asp35fs Single submitter hemolytic uremic syndrome, atypical, susceptibility to, 1
- p.Cys237Ser Single submitter ⚠
- p.Cys300Tyr Single submitter ⚠
- p.Cys317Arg Single submitter ⚠
- p.Cys87fs Single submitter
- p.Gln44Ter Single submitter
- p.Glu187Asp Single submitter ⚠
- p.Gly217Arg Single submitter ⚠
- p.Gly293Asp Single submitter ⚠
- p.Gly31Ala Single submitter ⚠
- p.Leu243Val Single submitter chronic kidney disease ⚠
- p.Leu4Gln Single submitter ⚠
- p.Lys165Glu Single submitter ⚠
- p.Lys287Asn Single submitter ⚠
- p.Lys329Ile Single submitter ⚠
- p.Met189fs Single submitter
- p.Pro137Leu Single submitter ⚠
- p.Pro210Leu Single submitter ⚠
- p.Pro211Arg Single submitter ⚠
- p.Pro265Gln Single submitter ⚠
- p.Pro79Gln Single submitter ⚠
- p.Thr143Ala Single submitter ⚠
- p.Thr145Ala Single submitter ⚠
- p.Thr47Ala Single submitter ⚠
- p.Thr68Ala Single submitter ⚠
- p.Thr73Ala Single submitter ⚠
- p.Trp256Arg Single submitter ⚠
- p.Trp67Cys Single submitter ⚠
- p.Tyr289Phe Single submitter ⚠
- p.Tyr39Cys Single submitter ⚠
- p.Tyr53Ser Single submitter ⚠
- p.Val130Leu Single submitter ⚠
- p.Val267Ile Single submitter ⚠