C4B — 78 ClinVar variants

All ClinVar germline C4B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 69 flagged for review →

1 Pathogenic · 3 Likely pathogenic · 2 Conflicting · 2 Benign · 1 Benign/Likely benign · 2 Likely benign · 67 Uncertain significance

Full C4B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 69

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.

C4B p.Ile1147Val Conflicting Single submitter

Predictors lean, ClinVar uncertain 36

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 32

The independent predictors disagree with each other — read with care.

All C4B variants

Pathogenic 1

c.(?_3231 Single submitter complement component 4b deficiency

Likely pathogenic 3

c.3230+1G>A Single submitter complement component 4b deficiency
c.3676+1G>A Single submitter complement component 4b deficiency
p.Phe1299fs Single submitter

Conflicting classifications of pathogenicity 2

p.Arg828Trp Single submitter ⚠
p.Ile1147Val Single submitter ⚠

Benign 2

p.Ser1176Asn Multiple submitters ⚠
p.Gly1095= Single submitter

Benign/Likely benign 1

p.Thr907Ala Multiple submitters

Likely benign 2

p.Met841Val Single submitter
p.Pro1245Leu Single submitter

Uncertain significance 67

c.3504+32G>A Single submitter complement component 4b deficiency
p.Ala1067Val Single submitter ⚠
p.Ala1080Thr Single submitter ⚠
p.Ala1148Thr Single submitter complement component 4b deficiency ⚠
p.Ala1170Gly Single submitter ⚠
p.Ala1175Ser Single submitter ⚠
p.Ala1193Pro Single submitter ⚠
p.Ala1268Asp Single submitter ⚠
p.Ala1286Val Single submitter ⚠
p.Ala1343Thr Single submitter ⚠
p.Ala822Gly Single submitter ⚠
p.Arg1060Trp Single submitter ⚠
p.Arg1072Trp Single submitter complement component 4b deficiency ⚠
p.Arg1210Trp Single submitter ⚠
p.Arg1248Cys Single submitter ⚠
p.Arg1248Gly Single submitter ⚠
p.Arg1291Cys Single submitter ⚠
p.Arg1300Cys Single submitter ⚠
p.Arg1300His Single submitter ⚠
p.Arg1336Gln Single submitter ⚠
p.Arg1349Cys Single submitter ⚠
p.Arg1352Cys Single submitter ⚠
p.Arg1352Leu Single submitter ⚠
p.Arg1352Ser Single submitter ⚠
p.Arg831Cys Single submitter ⚠
p.Arg831His Single submitter ⚠
p.Arg838Cys Single submitter ⚠
p.Arg838His Single submitter ⚠
p.Arg838Leu Single submitter ⚠
p.Arg844His Single submitter ⚠
p.Arg845His Single submitter ⚠
p.Arg852Gln Single submitter ⚠
p.Arg852Trp Single submitter ⚠
p.Arg895Trp Single submitter ⚠
p.Arg916Gln Single submitter ⚠
p.Asn1215Lys Single submitter ⚠
p.Asn862Lys Single submitter ⚠
p.Asp1252Asn Single submitter ⚠
p.Asp1283Glu Single submitter ⚠
p.Gln1292Arg Single submitter ⚠
p.Glu1102Lys Single submitter ⚠
p.Glu1181Lys Single submitter ⚠
p.Glu1324Gly Single submitter ⚠
p.Gly1095Ala Single submitter ⚠
p.Gly1115Val Single submitter ⚠
p.Gly1211Val Single submitter ⚠
p.Gly1335Ala Single submitter ⚠
p.His834Gln Single submitter ⚠
p.Leu1108Pro Single submitter ⚠
p.Leu1179Phe Single submitter ⚠
p.Leu1179Trp Single submitter ⚠
p.Leu1187Phe Single submitter ⚠
p.Leu1228Val Single submitter ⚠
p.Leu835Val Single submitter ⚠
p.Met1128Thr Single submitter ⚠
p.Ser1116Leu Single submitter ⚠
p.Ser1177Leu Single submitter ⚠
p.Ser1242Leu Single submitter ⚠
p.Thr1142Ile Single submitter ⚠
p.Thr1203Ala Single submitter ⚠
p.Thr1305Met Single submitter ⚠
p.Trp1077Gly Single submitter ⚠
p.Val1155Ala Single submitter ⚠
p.Val1212Ile Single submitter ⚠
p.Val872Met Single submitter ⚠
p.Val897Leu Single submitter ⚠
p.Val909Ala Single submitter ⚠