CFP — 249 ClinVar variants
All ClinVar germline CFP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 139 flagged for review →
6 Pathogenic · 2 Likely pathogenic · 3 Conflicting · 12 Benign · 5 Benign/Likely benign · 79 Likely benign · 142 Uncertain significance
Full CFP gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 139
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 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
CFP p.Pro239Leu
Conflicting
Single submitter
properdin deficiency, X-linked
Predictors lean, ClinVar uncertain 72
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CFP p.Ala402Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CFP p.Arg438Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CFP p.Glu215Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CFP p.Lys413Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CFP p.Pro326Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CFP p.Pro78Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CFP p.Ala242Ser
Uncertain significance
Single submitter
properdin deficiency, X-linked
- CFP p.Ala8Thr Uncertain significance Single submitter
- CFP p.Arg10Gly Uncertain significance Single submitter
- CFP p.Arg159Cys Uncertain significance Single submitter
- CFP p.Arg222Cys Uncertain significance Single submitter
- CFP p.Arg346Cys Uncertain significance Single submitter
- CFP p.Arg353Cys Uncertain significance Single submitter
- CFP p.Arg359Gln Uncertain significance Single submitter
- CFP p.Arg403Cys Uncertain significance Single submitter
- CFP p.Arg405Pro Uncertain significance Single submitter
-
CFP p.Arg405Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- CFP p.Arg434Lys Uncertain significance Single submitter
- CFP p.Arg434Thr Uncertain significance Single submitter
- CFP p.Arg438Gln Uncertain significance Single submitter
- CFP p.Arg67His Uncertain significance Single submitter
- CFP p.Cys127Gly Uncertain significance Single submitter
- CFP p.Cys163Phe Uncertain significance Single submitter
- CFP p.Cys337Ser Uncertain significance Single submitter
- CFP p.Cys350Tyr Uncertain significance Single submitter
- CFP p.Gln177Arg Uncertain significance Single submitter
- CFP p.Gln35Arg Uncertain significance Single submitter
- CFP p.Gln364Arg Uncertain significance Single submitter
- CFP p.Gln443Arg Uncertain significance Single submitter
- CFP p.Glu218Ala Uncertain significance Single submitter
- CFP p.Glu228Gln Uncertain significance Single submitter
- CFP p.Glu426Lys Uncertain significance Single submitter
- CFP p.Glu450Lys Uncertain significance Single submitter
- CFP p.Gly138Ser Uncertain significance Single submitter
- CFP p.Gly155Val Uncertain significance Single submitter
- CFP p.Gly194Arg Uncertain significance Single submitter
- CFP p.Gly70Glu Uncertain significance Single submitter
- CFP p.His173Asp Uncertain significance Single submitter
- CFP p.His214Asp Uncertain significance Single submitter
- CFP p.His457Tyr Uncertain significance Single submitter
- CFP p.Ile305Val Uncertain significance Single submitter
- CFP p.Ile373Val Uncertain significance Single submitter
-
CFP p.Leu378Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- CFP p.Leu456Val Uncertain significance Single submitter
- CFP p.Lys154Arg Uncertain significance Single submitter
- CFP p.Lys66Gln Uncertain significance Single submitter
-
CFP p.Met279Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CFP p.Met392Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CFP p.Met392Val
Uncertain significance
Single submitter
Inborn genetic diseases
- CFP p.Met420Thr Uncertain significance Single submitter
- CFP p.Met420Val Uncertain significance Single submitter
- CFP p.Phe431Ser Uncertain significance Single submitter
- CFP p.Pro15Leu Uncertain significance Single submitter
- CFP p.Pro234Leu Uncertain significance Single submitter
-
CFP p.Pro252Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- CFP p.Pro394Ser Uncertain significance Single submitter
- CFP p.Pro9Ser Uncertain significance Single submitter
- CFP p.Ser320Leu Uncertain significance Single submitter
- CFP p.Ser40Pro Uncertain significance Single submitter
- CFP p.Ser52Thr Uncertain significance Single submitter
- CFP p.Ser68Ile Uncertain significance Single submitter
- CFP p.Thr158Ala Uncertain significance Single submitter
- CFP p.Thr21Ala Uncertain significance Single submitter
- CFP p.Thr408Ile Uncertain significance Single submitter
- CFP p.Trp202Arg Uncertain significance Single submitter
- CFP p.Trp260Gly Uncertain significance Single submitter
- CFP p.Trp321Leu Uncertain significance Single submitter
- CFP p.Trp432Ser Uncertain significance Single submitter
- CFP p.Trp86Arg Uncertain significance Single submitter
- CFP p.Tyr243Cys Uncertain significance Single submitter
- CFP p.Val105Met Uncertain significance Single submitter
- CFP p.Val115Leu Uncertain significance Single submitter
Predictors split 66
The independent predictors disagree with each other — read with care.
-
CFP p.Arg157Gln
Uncertain significance
Multiple submitters
properdin deficiency, X-linked
-
CFP p.Arg157Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CFP p.Arg247Trp Uncertain significance Multiple submitters
-
CFP p.Asn307Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CFP p.Gly200Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CFP p.Gly41Ser
Benign/Likely benign
Multiple submitters
properdin deficiency, X-linked
-
CFP p.Phe431Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CFP p.Pro204Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CFP p.Pro204Leu Benign/Likely benign Multiple submitters
-
CFP p.Pro454Ala
Uncertain significance
Multiple submitters
CFP-related disorder
-
CFP p.Pro454Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CFP p.Val53Met Benign/Likely benign Multiple submitters
- CFP p.Ala162Asp Uncertain significance Single submitter
- CFP p.Ala257Thr Uncertain significance Single submitter
- CFP p.Ala87Val Uncertain significance Single submitter
-
CFP p.Arg100Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- CFP p.Arg100Trp Uncertain significance Single submitter
- CFP p.Arg102Gln Uncertain significance Single submitter
- CFP p.Arg103His Uncertain significance Single submitter
- CFP p.Arg10Gln Uncertain significance Single submitter
- CFP p.Arg157Pro Uncertain significance Single submitter
-
CFP p.Arg159His
Conflicting
Single submitter
properdin deficiency, X-linked
-
CFP p.Arg161Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- CFP p.Arg220Gln Uncertain significance Single submitter
- CFP p.Arg222His Uncertain significance Single submitter
- CFP p.Arg368Trp Uncertain significance Single submitter
- CFP p.Arg403His Uncertain significance Single submitter
-
CFP p.Arg405His
Uncertain significance
Single submitter
Inborn genetic diseases
- CFP p.Asp319Val Uncertain significance Single submitter
- CFP p.Glu135Lys Uncertain significance Single submitter
- CFP p.Glu244Lys Uncertain significance Single submitter
- CFP p.Glu323Lys Uncertain significance Single submitter
- CFP p.Gly143Arg Uncertain significance Single submitter
- CFP p.Gly171Ala Uncertain significance Single submitter
- CFP p.Gly176Glu Uncertain significance Single submitter
- CFP p.Gly322Arg Uncertain significance Single submitter
-
CFP p.Gly322Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CFP p.Gly352Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- CFP p.Gly396Glu Uncertain significance Single submitter
- CFP p.Gly48Trp Uncertain significance Single submitter
-
CFP p.Leu19Met
Uncertain significance
Single submitter
Inborn genetic diseases
- CFP p.Leu20Phe Uncertain significance Single submitter
- CFP p.Leu22Pro Uncertain significance Single submitter
- CFP p.Phe33Leu Uncertain significance Single submitter
- CFP p.Pro117Thr Uncertain significance Single submitter
-
CFP p.Pro134Ser
Uncertain significance
Single submitter
properdin deficiency, X-linked
- CFP p.Pro144Ser Uncertain significance Single submitter
- CFP p.Pro227Leu Uncertain significance Single submitter
- CFP p.Pro237Ser Uncertain significance Single submitter
- CFP p.Pro289Ser Likely benign Single submitter
- CFP p.Pro393Ala Uncertain significance Single submitter
- CFP p.Pro415Leu Uncertain significance Single submitter
- CFP p.Pro437Thr Uncertain significance Single submitter
- CFP p.Pro88His Uncertain significance Single submitter
- CFP p.Ser225Phe Uncertain significance Single submitter
- CFP p.Ser325Arg Uncertain significance Single submitter
- CFP p.Ser90Leu Uncertain significance Single submitter
- CFP p.Thr119Ile Uncertain significance Single submitter
- CFP p.Thr283Met Uncertain significance Single submitter
- CFP p.Thr400Ala Uncertain significance Single submitter
- CFP p.Val256Leu Uncertain significance Single submitter
- CFP p.Val30Met Benign Single submitter
- CFP p.Val429Met Uncertain significance Single submitter
- CFP p.Val448Ala Uncertain significance Single submitter
- CFP p.Val448Met Uncertain significance Single submitter
-
CFP p.Gly298Val
Pathogenic
No assertion criteria
properdin deficiency, X-linked
All CFP variants
Pathogenic 6
- p.Arg161Ter Single submitter properdin deficiency, X-linked
- p.Trp321Gly Single submitter
- p.Trp321Ter Single submitter
- p.Gly298Val No assertion criteria properdin deficiency, X-linked ⚠
- p.Ser206Ter No assertion criteria properdin deficiency, X-linked
- p.Tyr414Asp No assertion criteria Properdin deficiency, type III
Likely pathogenic 2
- c.227+2T>G Single submitter
- c.767-2A>T Single submitter properdin deficiency, X-linked
Conflicting classifications of pathogenicity 3
- p.Arg159His Single submitter properdin deficiency, X-linked ⚠
- p.Arg329Ter Single submitter
- p.Pro239Leu Single submitter properdin deficiency, X-linked ⚠
Benign 12
- p.Arg79Gln Multiple submitters
- p.Asn428= Multiple submitters
- p.Ser221= Multiple submitters
- c.227+18dup Single submitter
- c.940+7A>G Single submitter
- c.*2A>T Single submitter
- p.Gln131Glu Single submitter
- p.Gly250Ser Single submitter
- p.Gly444= Single submitter
- p.Gly45= Single submitter
- p.Pro239= Single submitter
- p.Val30Met Single submitter ⚠
Benign/Likely benign 5
- c.403+9G>A Multiple submitters
- p.Asp299Asn Multiple submitters
- p.Gly41Ser Multiple submitters properdin deficiency, X-linked ⚠
- p.Pro204Leu Multiple submitters ⚠
- p.Val53Met Multiple submitters ⚠
Likely benign 79
- p.Ala6= Multiple submitters
- c.1132+15_1132+16del Single submitter
- c.1132+19G>C Single submitter
- c.1133-13C>T Single submitter
- c.1133-6T>C Single submitter
- c.1244+13G>A Single submitter
- c.1244+19T>C Single submitter
- c.1245-11del Single submitter
- c.1245-14C>T Single submitter
- c.227+10A>C Single submitter
- c.227+13C>G Single submitter
- c.227+14T>G Single submitter
- c.227+18G>C Single submitter
- c.227+19T>G Single submitter
- c.227+7G>A Single submitter
- c.228-11C>T Single submitter
- c.403+8_403+10del Single submitter
- c.404-10T>C Single submitter
- c.404-19C>T Single submitter
- c.574+18del Single submitter
- c.575-20C>T Single submitter
- c.766+15G>A Single submitter
- c.77-9C>G Single submitter
- c.941-14C>A Single submitter
- c.941-15G>T Single submitter
- c.941-19T>C Single submitter
- p.Ala116= Single submitter
- p.Ala361= Single submitter
- p.Arg159= Single submitter
- p.Arg220= Single submitter
- p.Arg346= Single submitter
- p.Arg353= Single submitter
- p.Asp356= Single submitter
- p.Cys148= Single submitter
- p.Gln443= Single submitter
- p.Gln445= Single submitter
- p.Glu384= Single submitter
- p.Glu440= Single submitter
- p.Gly113= Single submitter
- p.Gly137= Single submitter
- p.Gly155= Single submitter
- p.Gly194= Single submitter
- p.Gly211= Single submitter
- p.Gly240= Single submitter
- p.Gly264= Single submitter
- p.Gly293= Single submitter
- p.Gly298= Single submitter
- p.Gly423= Single submitter
- p.Gly70= Single submitter
- p.His193= Single submitter
- p.His291= Single submitter
- p.Ile328= Single submitter
- p.Leu18= Single submitter
- p.Leu442= Single submitter
- p.Leu469= Single submitter
- p.Leu47= Single submitter
- p.Met279Ile Single submitter Inborn genetic diseases
- p.Pro14= Single submitter
- p.Pro204= Single submitter
- p.Pro233= Single submitter
- p.Pro234= Single submitter
- p.Pro289Ser Single submitter ⚠
- p.Pro29= Single submitter
- p.Pro341= Single submitter
- p.Pro393= Single submitter
- p.Pro412= Single submitter
- p.Ser320= Single submitter
- p.Ser40= Single submitter
- p.Ser52= Single submitter
- p.Ser90= Single submitter
- p.Thr119= Single submitter
- p.Thr156= Single submitter
- p.Thr283= Single submitter
- p.Thr303= Single submitter
- p.Thr85= Single submitter
- p.Thr92= Single submitter
- p.Tyr243= Single submitter
- p.Val288= Single submitter
- p.Val458= Single submitter
Uncertain significance 142
- p.Ala402Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg157Gln Multiple submitters properdin deficiency, X-linked ⚠
- p.Arg157Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg247Trp Multiple submitters ⚠
- p.Arg438Trp Multiple submitters Inborn genetic diseases ⚠
- p.Asn307Ser Multiple submitters Inborn genetic diseases ⚠
- p.Glu215Lys Multiple submitters Inborn genetic diseases ⚠
- p.Gly200Asp Multiple submitters Inborn genetic diseases ⚠
- p.Lys413Glu Multiple submitters Inborn genetic diseases ⚠
- p.Phe431Val Multiple submitters Inborn genetic diseases ⚠
- p.Pro204Arg Multiple submitters Inborn genetic diseases ⚠
- p.Pro326Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro454Ala Multiple submitters CFP-related disorder ⚠
- p.Pro454Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro78Ala Multiple submitters Inborn genetic diseases ⚠
- c.1244+1G>A Single submitter
- c.1245-10_1245-9insAGGCACTCAATAAGAATTGAATGCATTCTTGCCTTCCCTGAGATTCTCCCTTCCGTTCCTCCCCACCCCTAGGGCCTG Single submitter
- c.403+20C>T Single submitter
- c.404-6C>G Single submitter
- c.575-3C>T Single submitter
- c.766+2_766+10dup Single submitter
- c.766+3A>G Single submitter
- c.77-3C>T Single submitter
- p.Ala162Asp Single submitter ⚠
- p.Ala242Ser Single submitter properdin deficiency, X-linked ⚠
- p.Ala257Thr Single submitter ⚠
- p.Ala87Val Single submitter ⚠
- p.Ala8Thr Single submitter ⚠
- p.Arg100Gln Single submitter Inborn genetic diseases ⚠
- p.Arg100Trp Single submitter ⚠
- p.Arg102Gln Single submitter ⚠
- p.Arg103His Single submitter ⚠
- p.Arg10Gln Single submitter ⚠
- p.Arg10Gly Single submitter ⚠
- p.Arg157Pro Single submitter ⚠
- p.Arg159Cys Single submitter ⚠
- p.Arg161Gln Single submitter Inborn genetic diseases ⚠
- p.Arg220Gln Single submitter ⚠
- p.Arg222Cys Single submitter ⚠
- p.Arg222His Single submitter ⚠
- p.Arg346Cys Single submitter ⚠
- p.Arg353Cys Single submitter ⚠
- p.Arg359Gln Single submitter ⚠
- p.Arg368Trp Single submitter ⚠
- p.Arg403Cys Single submitter ⚠
- p.Arg403His Single submitter ⚠
- p.Arg405His Single submitter Inborn genetic diseases ⚠
- p.Arg405Pro Single submitter ⚠
- p.Arg405Ser Single submitter Inborn genetic diseases ⚠
- p.Arg434Lys Single submitter ⚠
- p.Arg434Thr Single submitter ⚠
- p.Arg438Gln Single submitter ⚠
- p.Arg67His Single submitter ⚠
- p.Asp319Val Single submitter ⚠
- p.Cys127Gly Single submitter ⚠
- p.Cys163Phe Single submitter ⚠
- p.Cys337Ser Single submitter ⚠
- p.Cys350Tyr Single submitter ⚠
- p.Gln177Arg Single submitter ⚠
- p.Gln35Arg Single submitter ⚠
- p.Gln364Arg Single submitter ⚠
- p.Gln443Arg Single submitter ⚠
- p.Glu135Lys Single submitter ⚠
- p.Glu218Ala Single submitter ⚠
- p.Glu228Gln Single submitter ⚠
- p.Glu244Lys Single submitter ⚠
- p.Glu323Lys Single submitter ⚠
- p.Glu426Lys Single submitter ⚠
- p.Glu450Lys Single submitter ⚠
- p.Gly138Ser Single submitter ⚠
- p.Gly143Arg Single submitter ⚠
- p.Gly155Val Single submitter ⚠
- p.Gly171Ala Single submitter ⚠
- p.Gly176Glu Single submitter ⚠
- p.Gly194Arg Single submitter ⚠
- p.Gly322Arg Single submitter ⚠
- p.Gly322Val Single submitter Inborn genetic diseases ⚠
- p.Gly352Ala Single submitter Inborn genetic diseases ⚠
- p.Gly396Glu Single submitter ⚠
- p.Gly48Trp Single submitter ⚠
- p.Gly70Glu Single submitter ⚠
- p.His173Asp Single submitter ⚠
- p.His214Asp Single submitter ⚠
- p.His457Tyr Single submitter ⚠
- p.Ile305Val Single submitter ⚠
- p.Ile373Val Single submitter ⚠
- p.Leu19Met Single submitter Inborn genetic diseases ⚠
- p.Leu20Phe Single submitter ⚠
- p.Leu22Pro Single submitter ⚠
- p.Leu378Phe Single submitter Inborn genetic diseases ⚠
- p.Leu456Val Single submitter ⚠
- p.Lys154Arg Single submitter ⚠
- p.Lys66Gln Single submitter ⚠
- p.Met279Val Single submitter Inborn genetic diseases ⚠
- p.Met392Leu Single submitter Inborn genetic diseases ⚠
- p.Met392Val Single submitter Inborn genetic diseases ⚠
- p.Met420Thr Single submitter ⚠
- p.Met420Val Single submitter ⚠
- p.Phe33Leu Single submitter ⚠
- p.Phe431Ser Single submitter ⚠
- p.Pro117Thr Single submitter ⚠
- p.Pro134Ser Single submitter properdin deficiency, X-linked ⚠
- p.Pro144Ser Single submitter ⚠
- p.Pro15Leu Single submitter ⚠
- p.Pro227Leu Single submitter ⚠
- p.Pro234Leu Single submitter ⚠
- p.Pro237Ser Single submitter ⚠
- p.Pro252Thr Single submitter Inborn genetic diseases ⚠
- p.Pro255= Single submitter
- p.Pro393Ala Single submitter ⚠
- p.Pro394Ser Single submitter ⚠
- p.Pro415Leu Single submitter ⚠
- p.Pro437Thr Single submitter ⚠
- p.Pro88His Single submitter ⚠
- p.Pro9Ser Single submitter ⚠
- p.Ser225Phe Single submitter ⚠
- p.Ser320Leu Single submitter ⚠
- p.Ser325Arg Single submitter ⚠
- p.Ser40Pro Single submitter ⚠
- p.Ser52Thr Single submitter ⚠
- p.Ser68Ile Single submitter ⚠
- p.Ser90Leu Single submitter ⚠
- p.Thr119Ile Single submitter ⚠
- p.Thr158Ala Single submitter ⚠
- p.Thr21Ala Single submitter ⚠
- p.Thr283Met Single submitter ⚠
- p.Thr400Ala Single submitter ⚠
- p.Thr408Ile Single submitter ⚠
- p.Trp202Arg Single submitter ⚠
- p.Trp260Gly Single submitter ⚠
- p.Trp321del Single submitter
- p.Trp321Leu Single submitter ⚠
- p.Trp388fs Single submitter
- p.Trp432Ser Single submitter ⚠
- p.Trp86Arg Single submitter ⚠
- p.Tyr243Cys Single submitter ⚠
- p.Val105Met Single submitter ⚠
- p.Val115Leu Single submitter ⚠
- p.Val256Leu Single submitter ⚠
- p.Val429Met Single submitter ⚠
- p.Val448Ala Single submitter ⚠
- p.Val448Met Single submitter ⚠