CFD — 301 ClinVar variants
All ClinVar germline CFD variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 146 flagged for review →
6 Pathogenic · 6 Likely pathogenic · 3 Conflicting · 9 Benign · 5 Benign/Likely benign · 114 Likely benign · 158 Uncertain significance
Full CFD gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 146
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 71
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CFD p.Ala129Thr Uncertain significance Multiple submitters
- CFD p.Cys18Trp Uncertain significance Multiple submitters
- CFD p.Gly154Ser Uncertain significance Multiple submitters
- CFD p.His185Tyr Uncertain significance Multiple submitters
- CFD p.Ile189Val Uncertain significance Multiple submitters
- CFD p.Pro108Ser Uncertain significance Multiple submitters
- CFD p.Ser165Asn Uncertain significance Multiple submitters
- CFD p.Ser208Cys Uncertain significance Multiple submitters
- CFD p.Tyr39Cys Uncertain significance Multiple submitters
- CFD p.Val150Leu Uncertain significance Multiple submitters
- CFD p.Val61Met Uncertain significance Multiple submitters
- CFD p.Val78Ala Uncertain significance Multiple submitters
- CFD p.Ala100Thr Uncertain significance Single submitter
- CFD p.Ala41Glu Uncertain significance Single submitter
- CFD p.Ala41Val Uncertain significance Single submitter
- CFD p.Ala48Thr Uncertain significance Single submitter
- CFD p.Ala64Thr Uncertain significance Single submitter
- CFD p.Arg201Gln Uncertain significance Single submitter
- CFD p.Arg201Pro Uncertain significance Single submitter
- CFD p.Arg232Pro Uncertain significance Single submitter
- CFD p.Arg23Gly Uncertain significance Single submitter
- CFD p.Arg37Pro Uncertain significance Single submitter
- CFD p.Asp186Val Uncertain significance Single submitter
- CFD p.Asp73Glu Uncertain significance Single submitter
- CFD p.Cys195Tyr Uncertain significance Single submitter
- CFD p.Cys51Arg Uncertain significance Single submitter
- CFD p.Gln119His Uncertain significance Single submitter
- CFD p.Glu219Lys Uncertain significance Single submitter
- CFD p.Glu33Lys Uncertain significance Single submitter
- CFD p.Glu89Asp Uncertain significance Single submitter
- CFD p.Gly154Ala Uncertain significance Single submitter
- CFD p.Gly206Arg Uncertain significance Single submitter
- CFD p.Gly209Arg Uncertain significance Single submitter
- CFD p.Gly210Ala Uncertain significance Single submitter
- CFD p.Gly220Asp Uncertain significance Single submitter
- CFD p.Gly47Cys Uncertain significance Single submitter
-
CFD p.Gly52Asp
Uncertain significance
Single submitter
recurrent Neisseria infections due to factor D deficiency
- CFD p.Gly53Ser Uncertain significance Single submitter
- CFD p.Gly74Arg Uncertain significance Single submitter
- CFD p.His168Tyr Uncertain significance Single submitter
- CFD p.His66Arg Uncertain significance Single submitter
- CFD p.Ile111Met Uncertain significance Single submitter
-
CFD p.Ile155Val
Uncertain significance
Single submitter
recurrent Neisseria infections due to factor D deficiency
- CFD p.Ile189Met Uncertain significance Single submitter
- CFD p.Ile26Ser Uncertain significance Single submitter
- CFD p.Leu171Ser Uncertain significance Single submitter
- CFD p.Leu193Trp Uncertain significance Single submitter
- CFD p.Leu27Val Uncertain significance Single submitter
- CFD p.Leu55Pro Uncertain significance Single submitter
- CFD p.Lys234Gln Uncertain significance Single submitter
- CFD p.Lys234Glu Uncertain significance Single submitter
- CFD p.Lys75Thr Uncertain significance Single submitter
- CFD p.Lys92Arg Uncertain significance Single submitter
- CFD p.Met194Ile Uncertain significance Single submitter
- CFD p.Met40Ile Uncertain significance Single submitter
- CFD p.Pro211Leu Uncertain significance Single submitter
- CFD p.Pro22Arg Uncertain significance Single submitter
- CFD p.Pro235His Uncertain significance Single submitter
- CFD p.Thr183Arg Uncertain significance Single submitter
- CFD p.Thr190Ile Uncertain significance Single submitter
- CFD p.Thr223Ser Uncertain significance Single submitter
- CFD p.Trp135Leu Uncertain significance Single submitter
- CFD p.Trp153Arg Uncertain significance Single submitter
- CFD p.Trp247Cys Uncertain significance Single submitter
- CFD p.Trp247Leu Uncertain significance Single submitter
- CFD p.Trp247Ser Uncertain significance Single submitter
- CFD p.Val11Gly Uncertain significance Single submitter
- CFD p.Val222Ala Uncertain significance Single submitter
- CFD p.Val241Leu Uncertain significance Single submitter
- CFD p.Val56Leu Uncertain significance Single submitter
- CFD p.Val78Phe Uncertain significance Single submitter
Predictors split 73
The independent predictors disagree with each other — read with care.
- CFD p.Ala100Pro Uncertain significance Multiple submitters
- CFD p.Ala143Val Uncertain significance Multiple submitters
- CFD p.Ala20Thr Uncertain significance Multiple submitters
- CFD p.Ala246Val Uncertain significance Multiple submitters
- CFD p.Ala36Val Uncertain significance Multiple submitters
- CFD p.Ala82Val Uncertain significance Multiple submitters
- CFD p.Arg137Cys Uncertain significance Multiple submitters
- CFD p.Arg192Pro Uncertain significance Multiple submitters
- CFD p.Arg201Trp Uncertain significance Multiple submitters
- CFD p.Asp96Tyr Uncertain significance Multiple submitters
-
CFD p.Gln167His
Uncertain significance
Multiple submitters
CFD-related disorder
- CFD p.Gly216Asp Uncertain significance Multiple submitters
- CFD p.His2Tyr Uncertain significance Multiple submitters
- CFD p.Ile248Met Benign/Likely benign Multiple submitters
- CFD p.Leu147Pro Uncertain significance Multiple submitters
- CFD p.Met40Val Uncertain significance Multiple submitters
- CFD p.Pro90Ser Uncertain significance Multiple submitters
- CFD p.Ser121Leu Uncertain significance Multiple submitters
- CFD p.Ser84Ala Uncertain significance Multiple submitters
- CFD p.Ala100Val Uncertain significance Single submitter
- CFD p.Ala124Thr Uncertain significance Single submitter
- CFD p.Ala151Gly Uncertain significance Single submitter
- CFD p.Ala16Thr Uncertain significance Single submitter
- CFD p.Ala20Val Uncertain significance Single submitter
- CFD p.Ala253Asp Uncertain significance Single submitter
- CFD p.Ala57Val Uncertain significance Single submitter
- CFD p.Ala65Val Uncertain significance Single submitter
- CFD p.Ala72Val Uncertain significance Single submitter
- CFD p.Arg137His Uncertain significance Single submitter
- CFD p.Arg140Cys Uncertain significance Single submitter
- CFD p.Arg140His Uncertain significance Single submitter
- CFD p.Arg161Cys Uncertain significance Single submitter
- CFD p.Arg176Pro Uncertain significance Single submitter
- CFD p.Arg192His Benign Single submitter
- CFD p.Arg232His Uncertain significance Single submitter
- CFD p.Arg6His Conflicting Single submitter
- CFD p.Arg93His Uncertain significance Single submitter
- CFD p.Asn231Lys Uncertain significance Single submitter
- CFD p.Asn46Lys Uncertain significance Single submitter
- CFD p.Asp112His Uncertain significance Single submitter
- CFD p.Asp112Tyr Uncertain significance Single submitter
- CFD p.Asp139His Uncertain significance Single submitter
- CFD p.Asp202Gly Uncertain significance Single submitter
- CFD p.Glu191Gln Uncertain significance Single submitter
- CFD p.Glu191Gly Uncertain significance Single submitter
- CFD p.Glu31Asp Uncertain significance Single submitter
- CFD p.Glu89Gln Uncertain significance Single submitter
- CFD p.Gly215Arg Uncertain significance Single submitter
- CFD p.Gly216Ala Uncertain significance Single submitter
-
CFD p.Gly216Ser
Uncertain significance
Single submitter
recurrent Neisseria infections due to factor D deficiency
- CFD p.Gly52Ser Uncertain significance Single submitter
- CFD p.His35Gln Uncertain significance Single submitter
- CFD p.Ile248Val Uncertain significance Single submitter
- CFD p.Leu120Val Uncertain significance Single submitter
- CFD p.Leu126Pro Uncertain significance Single submitter
- CFD p.Leu174Arg Uncertain significance Single submitter
- CFD p.Leu94Gln Uncertain significance Single submitter
- CFD p.Pro104Leu Uncertain significance Single submitter
- CFD p.Pro144Ser Uncertain significance Single submitter
- CFD p.Pro172Leu Uncertain significance Single submitter
- CFD p.Pro38Ser Uncertain significance Single submitter
- CFD p.Pro90Arg Uncertain significance Single submitter
- CFD p.Pro90Leu Uncertain significance Single submitter
- CFD p.Ser203Asn Uncertain significance Single submitter
- CFD p.Ser243Asn Uncertain significance Single submitter
- CFD p.Ser243Cys Uncertain significance Single submitter
- CFD p.Ser250Arg Uncertain significance Single submitter
- CFD p.Ser86Leu Uncertain significance Single submitter
- CFD p.Ser91Pro Uncertain significance Single submitter
- CFD p.Thr178Ala Uncertain significance Single submitter
- CFD p.Thr178Ile Uncertain significance Single submitter
- CFD p.Thr183Met Uncertain significance Single submitter
- CFD p.Val251Gly Uncertain significance Single submitter
All CFD variants
Pathogenic 6
- p.Tyr95Ter Multiple submitters recurrent Neisseria infections due to factor D deficiency
- p.Cys148Ter Single submitter
- p.Cys51Ter Single submitter
- p.Gln44fs Single submitter
- p.Gly14Ter Single submitter
- p.Ser42Ter Single submitter recurrent Neisseria infections due to factor D deficiency
Likely pathogenic 6
- c.212+2T>G Multiple submitters recurrent Neisseria infections due to factor D deficiency
- c.56-1G>C Multiple submitters recurrent Neisseria infections due to factor D deficiency
- c.213-1G>C Single submitter recurrent Neisseria infections due to factor D deficiency
- c.213-2A>C Single submitter
- c.358-259_461delinsCATTGA Single submitter
- p.Leu94fs Single submitter recurrent Neisseria infections due to factor D deficiency
Conflicting classifications of pathogenicity 3
- p.Ala188Thr Single submitter ⚠
- p.Arg232Cys Single submitter ⚠
- p.Arg6His Single submitter ⚠
Benign 9
- c.213-9G>C Multiple submitters
- c.357+16C>A Multiple submitters
- c.358-7C>T Multiple submitters
- c.616-15G>C Multiple submitters
- p.Ala143= Multiple submitters
- p.Thr190= Multiple submitters
- c.56-13C>T Single submitter
- p.Arg176= Single submitter
- p.Arg192His Single submitter ⚠
Benign/Likely benign 5
- c.212+11G>A Multiple submitters
- c.212+7G>T Multiple submitters
- p.Cys214= Multiple submitters
- p.Glu69Lys Multiple submitters
- p.Ile248Met Multiple submitters ⚠
Likely benign 114
- p.Arg240= Multiple submitters
- c.212+11G>T Single submitter
- c.212+13G>A Single submitter
- c.212+14C>T Single submitter
- c.212+20G>A Single submitter
- c.213-15C>G Single submitter
- c.357+10G>T Single submitter
- c.357+12G>T Single submitter
- c.357+14A>G Single submitter
- c.357+17G>A Single submitter
- c.357+8C>G Single submitter
- c.357+9C>A Single submitter
- c.357+9C>G Single submitter
- c.358-12C>T Single submitter
- c.358-13C>A Single submitter
- c.358-15C>A Single submitter
- c.358-15C>T Single submitter
- c.358-6C>T Single submitter
- c.55+10C>T Single submitter
- c.55+12T>C Single submitter
- c.55+15G>C Single submitter
- c.55+15G>T Single submitter
- c.55+16C>A Single submitter
- c.55+7A>C Single submitter
- c.56-12G>T Single submitter
- c.56-15C>T Single submitter
- c.56-16G>T Single submitter
- c.56-5C>T Single submitter
- c.56-7C>T Single submitter
- c.56-9C>A Single submitter
- c.615+18G>C Single submitter
- c.615+21_615+48dup Single submitter
- c.615+7C>T Single submitter
- c.615+8T>C Single submitter
- c.616-10G>A Single submitter
- c.616-10G>C Single submitter
- c.616-12C>G Single submitter
- c.616-15G>A Single submitter
- c.616-16C>G Single submitter
- c.616-16C>T Single submitter
- c.616-19C>A Single submitter
- c.616-19C>T Single submitter
- c.616-4G>T Single submitter
- c.616-6C>G Single submitter
- p.Ala15= Single submitter
- p.Ala20= Single submitter
- p.Ala242= Single submitter
- p.Ala245= Single submitter
- p.Ala246= Single submitter
- p.Ala253= Single submitter
- p.Ala32= Single submitter
- p.Ala64= Single submitter
- p.Ala65= Single submitter
- p.Arg137= Single submitter
- p.Arg162= Single submitter
- p.Arg201= Single submitter
- p.Arg227= Single submitter
- p.Arg23= Single submitter
- p.Arg232= Single submitter
- p.Arg25= Single submitter
- p.Arg30= Single submitter
- p.Arg37= Single submitter
- p.Asp141= Single submitter
- p.Asp149= Single submitter
- p.Asp207= Single submitter
- p.Gln77= Single submitter
- p.Glu191= Single submitter
- p.Glu219= Single submitter
- p.Glu5= Single submitter
- p.Gly127= Single submitter
- p.Gly160= Single submitter
- p.Gly206= Single submitter
- p.Gly216= Single submitter
- p.Gly225= Single submitter
- p.Gly28= Single submitter
- p.His103= Single submitter
- p.His184= Single submitter
- p.His35= Single submitter
- p.His49= Single submitter
- p.Ile248= Single submitter
- p.Leu115= Single submitter
- p.Leu117= Single submitter
- p.Leu118= Single submitter
- p.Leu120= Single submitter
- p.Leu13= Single submitter
- p.Leu166= Single submitter
- p.Leu174= Single submitter
- p.Leu45= Single submitter
- p.Leu55= Single submitter
- p.Leu62= Single submitter
- p.Leu68= Single submitter
- p.Leu79= Single submitter
- p.Leu85= Single submitter
- p.Pro104= Single submitter
- p.Pro108= Single submitter
- p.Pro163= Single submitter
- p.Pro211= Single submitter
- p.Pro235= Single submitter
- p.Pro90= Single submitter
- p.Ser165Arg Single submitter
- p.Ser208= Single submitter
- p.Ser224= Single submitter
- p.Ser226= Single submitter
- p.Ser42= Single submitter
- p.Ser86= Single submitter
- p.Tyr244= Single submitter
- p.Tyr39= Single submitter
- p.Tyr95= Single submitter
- p.Val11= Single submitter
- p.Val130= Single submitter
- p.Val169= Single submitter
- p.Val228= Single submitter
- p.Val76= Single submitter
- c.-8G>A No assertion criteria CFD-related disorder
Uncertain significance 158
- p.Ala100Pro Multiple submitters ⚠
- p.Ala129Thr Multiple submitters ⚠
- p.Ala143Val Multiple submitters ⚠
- p.Ala20Thr Multiple submitters ⚠
- p.Ala246Val Multiple submitters ⚠
- p.Ala36Val Multiple submitters ⚠
- p.Ala82Val Multiple submitters ⚠
- p.Arg137Cys Multiple submitters ⚠
- p.Arg192Pro Multiple submitters ⚠
- p.Arg201Trp Multiple submitters ⚠
- p.Asp96Tyr Multiple submitters ⚠
- p.Cys18Trp Multiple submitters ⚠
- p.Gln167His Multiple submitters CFD-related disorder ⚠
- p.Gly154Ser Multiple submitters ⚠
- p.Gly216Asp Multiple submitters ⚠
- p.His185Tyr Multiple submitters ⚠
- p.His2Tyr Multiple submitters ⚠
- p.Ile189Val Multiple submitters ⚠
- p.Leu147Pro Multiple submitters ⚠
- p.Met40Val Multiple submitters ⚠
- p.Pro108Ser Multiple submitters ⚠
- p.Pro90Ser Multiple submitters ⚠
- p.Ser121Leu Multiple submitters ⚠
- p.Ser165Asn Multiple submitters ⚠
- p.Ser208Cys Multiple submitters ⚠
- p.Ser84Ala Multiple submitters ⚠
- p.Tyr39Cys Multiple submitters ⚠
- p.Val150Leu Multiple submitters ⚠
- p.Val61Met Multiple submitters ⚠
- p.Val78Ala Multiple submitters ⚠
- c.213-14C>A Single submitter
- c.213-7T>A Single submitter
- c.357+4G>C Single submitter
- c.357+4G>T Single submitter
- c.56-6C>G Single submitter
- c.615+3G>C Single submitter
- c.616-2A>G Single submitter
- c.616-5G>A Single submitter
- c.*7G>A Single submitter
- p.Ala100Thr Single submitter ⚠
- p.Ala100Val Single submitter ⚠
- p.Ala124Thr Single submitter ⚠
- p.Ala151Gly Single submitter ⚠
- p.Ala16Thr Single submitter ⚠
- p.Ala20Val Single submitter ⚠
- p.Ala253Asp Single submitter ⚠
- p.Ala41Glu Single submitter ⚠
- p.Ala41Val Single submitter ⚠
- p.Ala48Thr Single submitter ⚠
- p.Ala57Val Single submitter ⚠
- p.Ala64Thr Single submitter ⚠
- p.Ala65Val Single submitter ⚠
- p.Ala72Val Single submitter ⚠
- p.Arg137His Single submitter ⚠
- p.Arg140_Leu147del Single submitter
- p.Arg140Cys Single submitter ⚠
- p.Arg140His Single submitter ⚠
- p.Arg161Cys Single submitter ⚠
- p.Arg176Pro Single submitter ⚠
- p.Arg201Gln Single submitter ⚠
- p.Arg201Pro Single submitter ⚠
- p.Arg227Ser Single submitter
- p.Arg232His Single submitter ⚠
- p.Arg232Pro Single submitter ⚠
- p.Arg23Gly Single submitter ⚠
- p.Arg37Pro Single submitter ⚠
- p.Arg93His Single submitter ⚠
- p.Asn231Lys Single submitter ⚠
- p.Asn46Lys Single submitter ⚠
- p.Asp112His Single submitter ⚠
- p.Asp112Tyr Single submitter ⚠
- p.Asp139His Single submitter ⚠
- p.Asp186Val Single submitter ⚠
- p.Asp202Gly Single submitter ⚠
- p.Asp73Glu Single submitter ⚠
- p.Cys148fs Single submitter
- p.Cys195Tyr Single submitter ⚠
- p.Cys51Arg Single submitter ⚠
- p.Gln119His Single submitter ⚠
- p.Glu191Gln Single submitter ⚠
- p.Glu191Gly Single submitter ⚠
- p.Glu219_Val222del Single submitter
- p.Glu219Lys Single submitter ⚠
- p.Glu31Asp Single submitter ⚠
- p.Glu33Lys Single submitter ⚠
- p.Glu89Asp Single submitter ⚠
- p.Glu89Gln Single submitter ⚠
- p.Gly154Ala Single submitter ⚠
- p.Gly206Arg Single submitter ⚠
- p.Gly209Arg Single submitter ⚠
- p.Gly210Ala Single submitter ⚠
- p.Gly215Arg Single submitter ⚠
- p.Gly216Ala Single submitter ⚠
- p.Gly216Ser Single submitter recurrent Neisseria infections due to factor D deficiency ⚠
- p.Gly220Asp Single submitter ⚠
- p.Gly47Cys Single submitter ⚠
- p.Gly52Asp Single submitter recurrent Neisseria infections due to factor D deficiency ⚠
- p.Gly52Ser Single submitter ⚠
- p.Gly53Ser Single submitter ⚠
- p.Gly74Arg Single submitter ⚠
- p.His168Tyr Single submitter ⚠
- p.His35Gln Single submitter ⚠
- p.His66Arg Single submitter ⚠
- p.Ile111Met Single submitter ⚠
- p.Ile155Val Single submitter recurrent Neisseria infections due to factor D deficiency ⚠
- p.Ile189Met Single submitter ⚠
- p.Ile248Val Single submitter ⚠
- p.Ile26Ser Single submitter ⚠
- p.Leu120Val Single submitter ⚠
- p.Leu126Pro Single submitter ⚠
- p.Leu171Ser Single submitter ⚠
- p.Leu174Arg Single submitter ⚠
- p.Leu193Trp Single submitter ⚠
- p.Leu27Val Single submitter ⚠
- p.Leu55Pro Single submitter ⚠
- p.Leu94Gln Single submitter ⚠
- p.Lys205= Single submitter
- p.Lys234Gln Single submitter ⚠
- p.Lys234Glu Single submitter ⚠
- p.Lys75Thr Single submitter ⚠
- p.Lys92Arg Single submitter ⚠
- p.Met194Ile Single submitter ⚠
- p.Met40Ile Single submitter ⚠
- p.Pro104Leu Single submitter ⚠
- p.Pro144Ser Single submitter ⚠
- p.Pro163fs Single submitter
- p.Pro172Leu Single submitter ⚠
- p.Pro211Leu Single submitter ⚠
- p.Pro22Arg Single submitter ⚠
- p.Pro235His Single submitter ⚠
- p.Pro38Ser Single submitter ⚠
- p.Pro90Arg Single submitter ⚠
- p.Pro90Leu Single submitter ⚠
- p.Ser203Asn Single submitter ⚠
- p.Ser243Asn Single submitter ⚠
- p.Ser243Cys Single submitter ⚠
- p.Ser250Arg Single submitter ⚠
- p.Ser3Ile Single submitter
- p.Ser86Leu Single submitter ⚠
- p.Ser91Pro Single submitter ⚠
- p.Ter254Tyr Single submitter
- p.Thr178Ala Single submitter ⚠
- p.Thr178Ile Single submitter ⚠
- p.Thr183Arg Single submitter ⚠
- p.Thr183Met Single submitter ⚠
- p.Thr190Ile Single submitter ⚠
- p.Thr223Ser Single submitter ⚠
- p.Trp135Leu Single submitter ⚠
- p.Trp153Arg Single submitter ⚠
- p.Trp247Cys Single submitter ⚠
- p.Trp247Leu Single submitter ⚠
- p.Trp247Ser Single submitter ⚠
- p.Val11Gly Single submitter ⚠
- p.Val222Ala Single submitter ⚠
- p.Val241Leu Single submitter ⚠
- p.Val251Gly Single submitter ⚠
- p.Val56Leu Single submitter ⚠
- p.Val78Phe Single submitter ⚠