C4A — 66 ClinVar variants
All ClinVar germline C4A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 44 flagged for review →
9 Benign · 2 Benign/Likely benign · 6 Likely benign · 49 Uncertain significance
Full C4A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 44
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 lean, ClinVar uncertain 34
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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C4A p.Ala1062Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
C4A p.Ala1080Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
C4A p.Ala1148Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
C4A p.Ala1190Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
C4A p.Ala1259Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
C4A p.Ala908Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
C4A p.Ala915Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
C4A p.Ala926Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
C4A p.Arg1072Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
C4A p.Arg1167Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
C4A p.Arg895Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
C4A p.Asp1208Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
C4A p.Gln1090Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- C4A p.Gln1222Leu Uncertain significance Single submitter
-
C4A p.Gly1095Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
C4A p.Gly1131Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
C4A p.Gly881Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
C4A p.His1151Gln
Uncertain significance
Single submitter
complement component 4a deficiency
-
C4A p.His1214Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
C4A p.His1275Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
C4A p.Leu1048Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
C4A p.Lys1084Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
C4A p.Met841Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
C4A p.Pro1020Leu
Uncertain significance
Single submitter
complement component 4a deficiency
-
C4A p.Pro1122Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
C4A p.Pro890Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
C4A p.Ser1127Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
C4A p.Ser910Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
C4A p.Thr1076Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
C4A p.Thr904Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
C4A p.Val867Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
C4A p.Val869Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
C4A p.Val902Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
C4A p.Val914Gly
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 10
The independent predictors disagree with each other — read with care.
- C4A p.Ala1067Glu Uncertain significance Single submitter
-
C4A p.Ala1199Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
C4A p.Ala1205Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
C4A p.Ala891Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
C4A p.Arg1055Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
C4A p.Phe1059Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
C4A p.Phe899Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
C4A p.Ser1109Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
C4A p.Thr1196Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
C4A p.Val897Ile
Uncertain significance
Single submitter
Inborn genetic diseases
All C4A variants
Benign 9
- c.1045+70G>A Single submitter
- c.1524+23C>A Single submitter
- c.3505-8T>C Single submitter
- c.4876+50C>T Single submitter
- p.Leu1688= Single submitter
- p.Ser1251= Single submitter
- p.Ser347Tyr Single submitter
- p.Val1233fs Single submitter complement component 4a deficiency
- p.Ser1286Ala No assertion criteria
Benign/Likely benign 2
- c.2944+55T>C Multiple submitters
- p.Asp1073Gly Multiple submitters
Likely benign 6
- p.Pro1120Thr Multiple submitters
- p.Ala926= Single submitter
- p.Arg1349His Single submitter Inborn genetic diseases
- p.Gln826Arg Single submitter Inborn genetic diseases
- p.Glu959Asp Single submitter Inborn genetic diseases
- p.Ile1366= Single submitter
Uncertain significance 49
- p.Ala1062Val Single submitter Inborn genetic diseases ⚠
- p.Ala1067Glu Single submitter ⚠
- p.Ala1080Gly Single submitter Inborn genetic diseases ⚠
- p.Ala1148Val Single submitter Inborn genetic diseases ⚠
- p.Ala1190Ser Single submitter Inborn genetic diseases ⚠
- p.Ala1199Thr Single submitter Inborn genetic diseases ⚠
- p.Ala1205Val Single submitter Inborn genetic diseases ⚠
- p.Ala1259Thr Single submitter Inborn genetic diseases ⚠
- p.Ala891Val Single submitter Inborn genetic diseases ⚠
- p.Ala908Thr Single submitter Inborn genetic diseases ⚠
- p.Ala915Val Single submitter Inborn genetic diseases ⚠
- p.Ala926Val Single submitter Inborn genetic diseases ⚠
- p.Arg1055Trp Single submitter Inborn genetic diseases ⚠
- p.Arg1072Gln Single submitter Inborn genetic diseases ⚠
- p.Arg1167Thr Single submitter Inborn genetic diseases ⚠
- p.Arg895Gln Single submitter Inborn genetic diseases ⚠
- p.Asp1208Asn Single submitter Inborn genetic diseases ⚠
- p.Gln1090Arg Single submitter Inborn genetic diseases ⚠
- p.Gln1101Ter Single submitter complement component 4a deficiency
- p.Gln1222Leu Single submitter ⚠
- p.Gly1095Asp Single submitter Inborn genetic diseases ⚠
- p.Gly1131Ala Single submitter Inborn genetic diseases
- p.Gly1131Arg Single submitter Inborn genetic diseases ⚠
- p.Gly881Arg Single submitter Inborn genetic diseases ⚠
- p.His1151Gln Single submitter complement component 4a deficiency ⚠
- p.His1214Tyr Single submitter Inborn genetic diseases ⚠
- p.His1275Tyr Single submitter Inborn genetic diseases ⚠
- p.Leu1048Arg Single submitter Inborn genetic diseases ⚠
- p.Lys1084Glu Single submitter Inborn genetic diseases ⚠
- p.Met1128Val Single submitter Inborn genetic diseases
- p.Met841Ile Single submitter Inborn genetic diseases ⚠
- p.Phe1059Leu Single submitter Inborn genetic diseases ⚠
- p.Phe1117= Single submitter
- p.Phe899Leu Single submitter Inborn genetic diseases ⚠
- p.Pro1020Leu Single submitter complement component 4a deficiency ⚠
- p.Pro1122Ser Single submitter Inborn genetic diseases ⚠
- p.Pro890Thr Single submitter Inborn genetic diseases ⚠
- p.Ser1109Phe Single submitter Inborn genetic diseases ⚠
- p.Ser1127Arg Single submitter Inborn genetic diseases ⚠
- p.Ser910Phe Single submitter Inborn genetic diseases ⚠
- p.Thr1076Ala Single submitter Inborn genetic diseases ⚠
- p.Thr1196Met Single submitter Inborn genetic diseases ⚠
- p.Thr904Met Single submitter Inborn genetic diseases ⚠
- p.Val867Ile Single submitter Inborn genetic diseases ⚠
- p.Val869Met Single submitter Inborn genetic diseases ⚠
- p.Val897Ile Single submitter Inborn genetic diseases ⚠
- p.Val902Met Single submitter Inborn genetic diseases ⚠
- p.Val914Gly Single submitter Inborn genetic diseases ⚠
- p.Glu847Ter No assertion criteria