CD55 — 272 ClinVar variants
All ClinVar germline CD55 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 96 flagged for review →
16 Pathogenic · 1 Pathogenic/Likely pathogenic · 9 Likely pathogenic · 2 Conflicting · 8 Benign · 7 Benign/Likely benign · 123 Likely benign · 106 Uncertain significance
Full CD55 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 96
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.
-
CD55 p.Ser199Leu
Pathogenic
Single submitter
protein-losing enteropathy
Predictors lean, ClinVar uncertain 42
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CD55 p.Arg357His Uncertain significance Multiple submitters
-
CD55 p.His339Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CD55 p.Leu374Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CD55 p.Met377Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CD55 p.Met377Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CD55 p.Thr366Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CD55 p.Val100Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CD55 p.Ala184Val Uncertain significance Single submitter
-
CD55 p.Ala327Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CD55 p.Arg130Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CD55 p.Arg135Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CD55 p.Asn303Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- CD55 p.Asn303Thr Uncertain significance Single submitter
- CD55 p.Asp58Gly Uncertain significance Single submitter
-
CD55 p.Cys204Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CD55 p.Gln247Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- CD55 p.Gln326Glu Uncertain significance Single submitter
- CD55 p.Glu342Ala Uncertain significance Single submitter
-
CD55 p.Gly132Val
Uncertain significance
Single submitter
Inborn genetic diseases
- CD55 p.Gly274Arg Uncertain significance Single submitter
-
CD55 p.His341Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CD55 p.Ile206Met
Uncertain significance
Single submitter
Inborn genetic diseases
- CD55 p.Leu146Pro Uncertain significance Single submitter
- CD55 p.Leu359Pro Uncertain significance Single submitter
-
CD55 p.Lys347Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- CD55 p.Lys347Gln Uncertain significance Single submitter
- CD55 p.Met259Thr Uncertain significance Single submitter
-
CD55 p.Pro112Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- CD55 p.Pro13Leu Uncertain significance Single submitter
- CD55 p.Pro323Ser Uncertain significance Single submitter
- CD55 p.Ser140Pro Uncertain significance Single submitter
- CD55 p.Ser330Asn Uncertain significance Single submitter
- CD55 p.Ser334Pro Uncertain significance Single submitter
- CD55 p.Ser360Pro Uncertain significance Single submitter
- CD55 p.Thr185Ala Uncertain significance Single submitter
- CD55 p.Thr192Ala Uncertain significance Single submitter
- CD55 p.Thr192Lys Uncertain significance Single submitter
-
CD55 p.Thr2Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- CD55 p.Thr320Asn Uncertain significance Single submitter
- CD55 p.Thr373Met Uncertain significance Single submitter
- CD55 p.Val375Ile Uncertain significance Single submitter
- CD55 p.Val60Ile Uncertain significance Single submitter
Predictors split 53
The independent predictors disagree with each other — read with care.
-
CD55 p.Arg221Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CD55 p.Arg52Leu
Benign/Likely benign
Multiple submitters
protein-losing enteropathy
-
CD55 p.Asn171Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CD55 p.Asn44Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CD55 p.Glu273Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CD55 p.Gly122Ser Uncertain significance Multiple submitters
-
CD55 p.Pro166Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CD55 p.Pro299Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CD55 p.Ser162Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CD55 p.Arg130His Uncertain significance Single submitter
- CD55 p.Arg20Trp Uncertain significance Single submitter
- CD55 p.Arg240His Uncertain significance Single submitter
- CD55 p.Arg357Cys Uncertain significance Single submitter
- CD55 p.Arg52Pro Conflicting Single submitter
-
CD55 p.Asn148Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CD55 p.Asn233Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- CD55 p.Asp35Val Uncertain significance Single submitter
- CD55 p.Glu168Gly Uncertain significance Single submitter
-
CD55 p.Glu50Lys
Uncertain significance
Single submitter
protein-losing enteropathy
- CD55 p.Glu57Asp Uncertain significance Single submitter
-
CD55 p.Glu57Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- CD55 p.Glu57Lys Uncertain significance Single submitter
- CD55 p.Glu99Lys Uncertain significance Single submitter
- CD55 p.Gly372Glu Uncertain significance Single submitter
- CD55 p.Ile180Met Uncertain significance Single submitter
- CD55 p.Ile206Thr Uncertain significance Single submitter
- CD55 p.Ile223Asn Benign Single submitter
- CD55 p.Ile231Val Uncertain significance Single submitter
- CD55 p.Ile80Asn Uncertain significance Single submitter
- CD55 p.Leu15Phe Uncertain significance Single submitter
- CD55 p.Leu217Trp Uncertain significance Single submitter
-
CD55 p.Leu23Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CD55 p.Leu374Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CD55 p.Leu379Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CD55 p.Lys195Arg
Likely benign
Single submitter
Inborn genetic diseases
- CD55 p.Lys195Glu Uncertain significance Single submitter
- CD55 p.Met259Val Uncertain significance Single submitter
- CD55 p.Pro177Arg Uncertain significance Single submitter
- CD55 p.Pro216Leu Uncertain significance Single submitter
- CD55 p.Pro47Arg Uncertain significance Single submitter
- CD55 p.Pro6Gln Uncertain significance Single submitter
-
CD55 p.Ser214Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- CD55 p.Thr250Met Uncertain significance Single submitter
- CD55 p.Thr268Pro Uncertain significance Single submitter
- CD55 p.Thr328Ala Uncertain significance Single submitter
- CD55 p.Thr331Ile Uncertain significance Single submitter
- CD55 p.Thr336Lys Uncertain significance Single submitter
- CD55 p.Thr344Ile Likely benign Single submitter
- CD55 p.Thr62Met Uncertain significance Single submitter
-
CD55 p.Tyr224Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CD55 p.Val124Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- CD55 p.Val292Phe Uncertain significance Single submitter
- CD55 p.Val42Ile Uncertain significance Single submitter
All CD55 variants
Pathogenic 16
- p.Glu275fs Multiple submitters
- p.Arg170Ter Single submitter
- p.Cys267Ser Single submitter protein-losing enteropathy
- p.Glu57Ter Single submitter
- p.Ser199Leu Single submitter protein-losing enteropathy ⚠
- p.Ser88fs Single submitter
- p.Thr123fs Single submitter protein-losing enteropathy
- p.Thr289fs Single submitter
- p.Trp213Ter Single submitter
- p.Trp33Ter Single submitter protein-losing enteropathy
- p.Trp87Ter Single submitter
- p.Tyr224fs Single submitter
- c.287-1G>A No assertion criteria protein-losing enteropathy
- p.Glu50fs No assertion criteria protein-losing enteropathy
- p.Gly37fs No assertion criteria protein-losing enteropathy
- p.Leu15fs No assertion criteria protein-losing enteropathy
Pathogenic/Likely pathogenic 1
- p.Glu50Ter Multiple submitters protein-losing enteropathy
Likely pathogenic 9
- c.286+1G>A Multiple submitters CD55-related disorder
- c.286+2T>G Multiple submitters Cromer blood group system
- c.101-2A>C Single submitter CD55-related disorder
- c.123_286+132del Single submitter
- c.286+2T>A Single submitter
- c.479-1G>A Single submitter
- c.579-2A>T Single submitter
- c.665-1G>A Single submitter
- p.Gln173Ter Single submitter CD55-related disorder
Conflicting classifications of pathogenicity 2
- p.Arg52Pro Single submitter ⚠
- p.Thr363= Single submitter Inborn genetic diseases
Benign 8
- c.1061-8G>A Multiple submitters
- c.100+14C>T Single submitter
- c.479-18A>G Single submitter
- c.578+20A>G Single submitter
- c.664+15dup Single submitter
- p.Ile223Asn Single submitter ⚠
- p.Leu359= Single submitter
- p.Lys347Glu Single submitter
Benign/Likely benign 7
- c.854-16A>G Multiple submitters
- p.Ala227Pro Multiple submitters
- p.Arg52Leu Multiple submitters protein-losing enteropathy ⚠
- p.Cys98= Multiple submitters
- p.Leu288= Multiple submitters
- p.Thr2= Multiple submitters
- p.Val333Ile Multiple submitters
Likely benign 123
- c.1082-8A>C Multiple submitters
- p.Gln86= Multiple submitters
- p.Gly372= Multiple submitters Inborn genetic diseases
- p.Leu367= Multiple submitters Inborn genetic diseases
- p.Leu82Arg Multiple submitters
- c.100+14C>A Single submitter
- c.100+17C>T Single submitter
- c.100+18G>A Single submitter
- c.100+21del Single submitter
- c.101-19T>C Single submitter
- c.101-6C>T Single submitter
- c.1060+17C>G Single submitter
- c.1060+18A>G Single submitter
- c.1060+18A>T Single submitter
- c.1060+19G>A Single submitter
- c.1060+9A>G Single submitter
- c.1061-11T>C Single submitter
- c.1061-12C>T Single submitter
- c.1061-14C>T Single submitter
- c.1061-17T>C Single submitter
- c.1061-9C>T Single submitter
- c.1081+1107C>T Single submitter
- c.1081+12T>C Single submitter
- c.1081+13C>T Single submitter
- c.1082-10_1082-9insTA Single submitter
- c.1082-10_1082-9insTC Single submitter
- c.1082-10_1082-9insTTA Single submitter
- c.1082-10_1082-9insTTC Single submitter
- c.1082-10_1082-9insTTTC Single submitter
- c.1082-10T>C Single submitter
- c.1082-11_1082-10insA Single submitter
- c.1082-18_1082-10del Single submitter
- c.1082-8dup Single submitter
- c.286+10T>G Single submitter
- c.286+17T>C Single submitter
- c.478+14T>G Single submitter
- c.478+17A>T Single submitter
- c.478+20G>A Single submitter
- c.479-9C>T Single submitter
- c.578+11G>A Single submitter
- c.578+12C>T Single submitter
- c.578+13A>C Single submitter
- c.578+14T>C Single submitter
- c.578+16C>T Single submitter
- c.578+17T>A Single submitter
- c.579-10G>A Single submitter
- c.664+13A>C Single submitter
- c.664+14A>T Single submitter
- c.664+8T>C Single submitter
- c.665-19G>A Single submitter
- c.665-8T>C Single submitter
- c.853+20A>G Single submitter
- c.854-14C>G Single submitter
- c.979+14A>G Single submitter
- c.979+8G>C Single submitter
- c.980-18C>T Single submitter
- c.980-9A>G Single submitter
- c.980-9A>T Single submitter
- p.Ala45= Single submitter
- p.Arg240= Single submitter
- p.Arg335= Single submitter
- p.Arg5= Single submitter
- p.Asn165= Single submitter
- p.Asn171= Single submitter
- p.Asn191= Single submitter
- p.Asn270= Single submitter
- p.Asn44= Single submitter
- p.Cys129= Single submitter
- p.Cys190= Single submitter
- p.Cys204= Single submitter
- p.Cys65= Single submitter
- p.Gln111= Single submitter
- p.Glu239= Single submitter protein-losing enteropathy
- p.Gly172= Single submitter
- p.Gly179= Single submitter
- p.Gly198= Single submitter
- p.Gly361= Single submitter
- p.Gly84= Single submitter
- p.Leu12= Single submitter
- p.Leu143= Single submitter
- p.Leu15= Single submitter
- p.Leu217= Single submitter
- p.Leu24= Single submitter
- p.Lys150= Single submitter
- p.Lys195Arg Single submitter Inborn genetic diseases ⚠
- p.Lys338= Single submitter
- p.Lys347= Single submitter
- p.Lys76= Single submitter
- p.Phe188= Single submitter
- p.Phe203Tyr Single submitter Inborn genetic diseases
- p.Pro101= Single submitter
- p.Pro13= Single submitter
- p.Pro166= Single submitter
- p.Pro216= Single submitter
- p.Pro345= Single submitter
- p.Pro39= Single submitter
- p.Pro56= Single submitter
- p.Pro6= Single submitter
- p.Pro9= Single submitter
- p.Ser106= Single submitter
- p.Ser201= Single submitter
- p.Ser209= Single submitter
- p.Ser349= Single submitter
- p.Ser7= Single submitter
- p.Ser85= Single submitter
- p.Thr192= Single submitter
- p.Thr250= Single submitter
- p.Thr289= Single submitter
- p.Thr316= Single submitter
- p.Thr318= Single submitter
- p.Thr320= Single submitter
- p.Thr328= Single submitter
- p.Thr344Ile Single submitter ⚠
- p.Thr351= Single submitter
- p.Thr366= Single submitter
- p.Thr373= Single submitter Inborn genetic diseases
- p.Tyr63= Single submitter
- p.Val121= Single submitter
- p.Val124= Single submitter
- p.Val155= Single submitter
- p.Val309= Single submitter
- p.Val32= Single submitter
- p.Val8= Single submitter
Uncertain significance 106
- c.1081+1G>C Multiple submitters Cromer blood group system
- p.Arg221Ser Multiple submitters Inborn genetic diseases ⚠
- p.Arg357His Multiple submitters ⚠
- p.Asn171Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn44Asp Multiple submitters Inborn genetic diseases ⚠
- p.Glu273Gly Multiple submitters Inborn genetic diseases ⚠
- p.Gly122Ser Multiple submitters ⚠
- p.His339Asn Multiple submitters Inborn genetic diseases ⚠
- p.Leu374Val Multiple submitters Inborn genetic diseases ⚠
- p.Lys347fs Multiple submitters
- p.Met377Thr Multiple submitters Inborn genetic diseases ⚠
- p.Met377Val Multiple submitters Inborn genetic diseases ⚠
- p.Pro166Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro299Arg Multiple submitters Inborn genetic diseases ⚠
- p.Ser162Leu Multiple submitters Inborn genetic diseases ⚠
- p.Thr366Met Multiple submitters Inborn genetic diseases ⚠
- p.Val100Met Multiple submitters Inborn genetic diseases ⚠
- p.Val302_Thr307del Multiple submitters
- c.100+5G>A Single submitter
- c.478+3G>A Single submitter
- c.478+5G>A Single submitter
- c.578+3A>G Single submitter
- c.665-3A>C Single submitter
- c.665-8T>A Single submitter
- p.315KTTT[1] Single submitter
- p.Ala184Val Single submitter ⚠
- p.Ala327Val Single submitter Inborn genetic diseases ⚠
- p.Arg130His Single submitter ⚠
- p.Arg130Ser Single submitter Inborn genetic diseases ⚠
- p.Arg135Lys Single submitter Inborn genetic diseases ⚠
- p.Arg20Trp Single submitter ⚠
- p.Arg240His Single submitter ⚠
- p.Arg357Cys Single submitter ⚠
- p.Asn148Tyr Single submitter Inborn genetic diseases ⚠
- p.Asn233Ser Single submitter Inborn genetic diseases ⚠
- p.Asn303Ser Single submitter Inborn genetic diseases ⚠
- p.Asn303Thr Single submitter ⚠
- p.Asp35Val Single submitter ⚠
- p.Asp58Gly Single submitter ⚠
- p.Cys204Tyr Single submitter Inborn genetic diseases ⚠
- p.Gln247Pro Single submitter Inborn genetic diseases ⚠
- p.Gln326Glu Single submitter ⚠
- p.Glu168Gly Single submitter ⚠
- p.Glu273del Single submitter
- p.Glu342_Thr343insArg Single submitter
- p.Glu342Ala Single submitter ⚠
- p.Glu50Lys Single submitter protein-losing enteropathy ⚠
- p.Glu57Asp Single submitter ⚠
- p.Glu57Gly Single submitter Inborn genetic diseases ⚠
- p.Glu57Lys Single submitter ⚠
- p.Glu99Lys Single submitter ⚠
- p.Gly132Val Single submitter Inborn genetic diseases ⚠
- p.Gly274Arg Single submitter ⚠
- p.Gly372Glu Single submitter ⚠
- p.His341Tyr Single submitter Inborn genetic diseases ⚠
- p.Ile180Met Single submitter ⚠
- p.Ile206Met Single submitter Inborn genetic diseases ⚠
- p.Ile206Thr Single submitter ⚠
- p.Ile231Val Single submitter ⚠
- p.Ile80Asn Single submitter ⚠
- p.Leu146Pro Single submitter ⚠
- p.Leu15Phe Single submitter ⚠
- p.Leu217Trp Single submitter ⚠
- p.Leu23Arg Single submitter Inborn genetic diseases ⚠
- p.Leu24_Val25insLeu Single submitter
- p.Leu359Pro Single submitter ⚠
- p.Leu374Gln Single submitter Inborn genetic diseases ⚠
- p.Leu379Ser Single submitter Inborn genetic diseases ⚠
- p.Lys195Glu Single submitter ⚠
- p.Lys347Arg Single submitter Inborn genetic diseases ⚠
- p.Lys347Gln Single submitter ⚠
- p.Met1fs Single submitter
- p.Met259Thr Single submitter ⚠
- p.Met259Val Single submitter ⚠
- p.Pro112Ser Single submitter Inborn genetic diseases ⚠
- p.Pro13Leu Single submitter ⚠
- p.Pro177Arg Single submitter ⚠
- p.Pro216Leu Single submitter ⚠
- p.Pro323Ser Single submitter ⚠
- p.Pro332_Ser334del Single submitter
- p.Pro47Arg Single submitter ⚠
- p.Pro6Gln Single submitter ⚠
- p.Ser140Pro Single submitter ⚠
- p.Ser214Gly Single submitter Inborn genetic diseases ⚠
- p.Ser330Asn Single submitter ⚠
- p.Ser330fs Single submitter
- p.Ser334Pro Single submitter ⚠
- p.Ser360Pro Single submitter ⚠
- p.Thr185Ala Single submitter ⚠
- p.Thr192Ala Single submitter ⚠
- p.Thr192Lys Single submitter ⚠
- p.Thr250Met Single submitter ⚠
- p.Thr268Pro Single submitter ⚠
- p.Thr2Ala Single submitter Inborn genetic diseases ⚠
- p.Thr320Asn Single submitter ⚠
- p.Thr328Ala Single submitter ⚠
- p.Thr331Ile Single submitter ⚠
- p.Thr336Lys Single submitter ⚠
- p.Thr373Met Single submitter ⚠
- p.Thr62Met Single submitter ⚠
- p.Tyr224Cys Single submitter Inborn genetic diseases ⚠
- p.Val124Leu Single submitter Inborn genetic diseases ⚠
- p.Val292Phe Single submitter ⚠
- p.Val375Ile Single submitter ⚠
- p.Val42Ile Single submitter ⚠
- p.Val60Ile Single submitter ⚠