C1QB — 150 ClinVar variants
All ClinVar germline C1QB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 82 flagged for review →
2 Pathogenic · 5 Likely pathogenic · 5 Conflicting · 12 Benign · 3 Benign/Likely benign · 45 Likely benign · 78 Uncertain significance
Full C1QB gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 82
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.
-
C1QB p.Gly73Arg
Conflicting
Single submitter
C1Q deficiency
-
C1QB p.Ile120Val
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 41
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
C1QB p.Ala124Asp
Uncertain significance
Multiple submitters
C1Q deficiency
-
C1QB p.Arg134Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
C1QB p.Arg186Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
C1QB p.Asp21Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
C1QB p.Asp226Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
C1QB p.Asp48Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
C1QB p.Asp68Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
C1QB p.Gly176Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
C1QB p.Pro9Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
C1QB p.Val130Ile
Uncertain significance
Multiple submitters
C1Q deficiency 2
- C1QB c.-3A>T Uncertain significance Single submitter
-
C1QB p.Ala172Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- C1QB p.Ala172Val Uncertain significance Single submitter
- C1QB p.Ala189Val Uncertain significance Single submitter
-
C1QB p.Arg126Gly
Uncertain significance
Single submitter
C1QB-related disorder
-
C1QB p.Arg133His
Uncertain significance
Single submitter
Inborn genetic diseases
-
C1QB p.Arg134Pro
Uncertain significance
Single submitter
C1Q deficiency 2
-
C1QB p.Arg154His
Uncertain significance
Single submitter
C1Q deficiency 2
-
C1QB p.Asn150Ser
Uncertain significance
Single submitter
C1Q deficiency 2
- C1QB p.Asp226Asn Uncertain significance Single submitter
-
C1QB p.Asp68Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
C1QB p.Gly164Ser
Uncertain significance
Single submitter
cystic fibrosis
-
C1QB p.Gly176Glu
Uncertain significance
Single submitter
C1Q deficiency 2
-
C1QB p.Gly208Asp
Uncertain significance
Single submitter
C1Q deficiency 2
- C1QB p.Gly79Arg Uncertain significance Single submitter
- C1QB p.Gly98Asp Uncertain significance Single submitter
-
C1QB p.His69Tyr
Uncertain significance
Single submitter
C1Q deficiency 2
-
C1QB p.Ile20Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
C1QB p.Leu27Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
C1QB p.Lys161Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
C1QB p.Lys96Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
C1QB p.Met12Ile
Uncertain significance
Single submitter
C1Q deficiency 2
- C1QB p.Met147Leu Uncertain significance Single submitter
-
C1QB p.Met147Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- C1QB p.Met249Val Uncertain significance Single submitter
-
C1QB p.Phe72Val
Uncertain significance
Single submitter
Inborn genetic diseases
- C1QB p.Pro107Leu Uncertain significance Single submitter
- C1QB p.Pro9Leu Uncertain significance Single submitter
-
C1QB p.Thr125Ile
Uncertain significance
Single submitter
C1Q deficiency 2
-
C1QB p.Thr30Ser
Uncertain significance
Single submitter
C1Q deficiency 2
- C1QB p.Trp5Gly Uncertain significance Single submitter
Predictors split 39
The independent predictors disagree with each other — read with care.
-
C1QB p.Arg134Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
C1QB p.Gly31Arg
Uncertain significance
Multiple submitters
C1Q deficiency 2
-
C1QB p.Pro32His
Uncertain significance
Multiple submitters
C1Q deficiency 2
-
C1QB p.Pro39Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
C1QB p.Pro81Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
C1QB p.Ser111Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
C1QB p.Val143Met
Uncertain significance
Multiple submitters
C1Q deficiency 2
- C1QB p.Val180Met Benign/Likely benign Multiple submitters
- C1QB p.Ala121Thr Uncertain significance Single submitter
-
C1QB p.Arg139His
Uncertain significance
Single submitter
Inborn genetic diseases
- C1QB p.Arg154Cys Uncertain significance Single submitter
-
C1QB p.Arg184Cys
Uncertain significance
Single submitter
C1Q deficiency 2
-
C1QB p.Arg184Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- C1QB p.Arg184His Uncertain significance Single submitter
- C1QB p.Arg186Trp Uncertain significance Single submitter
-
C1QB p.Arg188His
Uncertain significance
Single submitter
Inborn genetic diseases
-
C1QB p.Asn201Tyr
Conflicting
Single submitter
Inborn genetic diseases
- C1QB p.Asp113Tyr Uncertain significance Single submitter
- C1QB p.Gln26Arg Uncertain significance Single submitter
- C1QB p.Gln26His Uncertain significance Single submitter
- C1QB p.Gly242Ala Uncertain significance Single submitter
- C1QB p.Gly55Ala Uncertain significance Single submitter
- C1QB p.Gly70Ser Uncertain significance Single submitter
-
C1QB p.His142Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
C1QB p.Leu14Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
C1QB p.Leu16Phe
Uncertain significance
Single submitter
C1Q deficiency 2
-
C1QB p.Lys108Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
C1QB p.Pro102Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
C1QB p.Pro102Leu
Uncertain significance
Single submitter
C1Q deficiency 2
- C1QB p.Pro153Thr Uncertain significance Single submitter
-
C1QB p.Pro163His
Uncertain significance
Single submitter
Inborn genetic diseases
- C1QB p.Pro163Leu Uncertain significance Single submitter
-
C1QB p.Pro45Arg
Uncertain significance
Single submitter
C1Q deficiency 2
-
C1QB p.Thr137Ser
Uncertain significance
Single submitter
C1Q deficiency 2
-
C1QB p.Thr145Asn
Uncertain significance
Single submitter
C1Q deficiency 2
- C1QB p.Thr202Ile Uncertain significance Single submitter
- C1QB p.Tyr114Phe Uncertain significance Single submitter
-
C1QB p.Val143Ala
Uncertain significance
Single submitter
C1Q deficiency 2
-
C1QB p.Val162Leu
Uncertain significance
Single submitter
Inborn genetic diseases
All C1QB variants
Pathogenic 2
- p.Glu59fs Single submitter C1Q deficiency 1
- c.181+1G>T No assertion criteria C1Q deficiency 2
Likely pathogenic 5
- c.181+1G>A Single submitter C1Q deficiency 2
- p.Arg175Ter Single submitter C1Q deficiency 2
- p.Gly242Arg Single submitter C1Q deficiency
- p.Gly88Ser Single submitter C1Q deficiency 2
- p.Leu132fs Single submitter
Conflicting classifications of pathogenicity 5
- p.Asn201Tyr Single submitter Inborn genetic diseases ⚠
- p.Gly73Arg Single submitter C1Q deficiency ⚠
- p.Ile120Val Single submitter Inborn genetic diseases ⚠
- p.Leu17= Single submitter C1Q deficiency 2
- p.Thr44fs Single submitter C1Q deficiency 2
Benign 12
- c.*79A>G Multiple submitters
- p.Ala34= Multiple submitters
- p.Gly109= Multiple submitters
- c.181+267T>C Single submitter
- c.182-235T>C Single submitter
- c.-23-147GATG[10] Single submitter
- c.-23-147GATG[11] Single submitter
- c.-23-147GATG[8] Single submitter
- p.Asn219= Single submitter
- p.Gly52= Single submitter
- p.His171= Single submitter
- p.Pro163= Single submitter
Benign/Likely benign 3
- p.Asn181= Multiple submitters C1Q deficiency
- p.Ser241= Multiple submitters
- p.Val180Met Multiple submitters ⚠
Likely benign 45
- p.Ala199= Multiple submitters
- p.Gly76= Multiple submitters
- p.Ile120= Multiple submitters
- p.Leu222= Multiple submitters
- p.Pro247= Multiple submitters
- p.Thr207= Multiple submitters
- p.Thr225= Multiple submitters
- c.181+10G>C Single submitter
- c.181+12T>A Single submitter
- c.182-354T>G Single submitter
- p.Ala104Val Single submitter
- p.Asn129= Single submitter
- p.Asn146= Single submitter
- p.Cys160= Single submitter
- p.Cys179= Single submitter
- p.Gln223= Single submitter
- p.Glu215= Single submitter
- p.Glu234= Single submitter
- p.Gly106= Single submitter
- p.Gly217= Single submitter
- p.Gly64= Single submitter
- p.Gly70= Single submitter
- p.Gly82= Single submitter
- p.His142= Single submitter
- p.His69= Single submitter
- p.Ile128= Single submitter
- p.Ile20= Single submitter
- p.Leu13= Single submitter
- p.Leu231= Single submitter
- p.Leu65= Single submitter
- p.Lys191= Single submitter
- p.Phe140= Single submitter
- p.Phe72= Single submitter
- p.Pro32= Single submitter
- p.Pro39= Single submitter
- p.Pro45= Single submitter
- p.Pro47= Single submitter
- p.Pro89= Single submitter
- p.Pro92= Single submitter
- p.Ser111= Single submitter
- p.Thr145= Single submitter
- p.Thr202= Single submitter
- p.Thr30= Single submitter
- p.Val192= Single submitter
- p.Val87= Single submitter
Uncertain significance 78
- p.Ala124Asp Multiple submitters C1Q deficiency ⚠
- p.Arg134Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg134Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg186Gln Multiple submitters Inborn genetic diseases ⚠
- p.Asp21Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp226Glu Multiple submitters Inborn genetic diseases ⚠
- p.Asp48Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp68Gly Multiple submitters Inborn genetic diseases ⚠
- p.Gly176Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly31Arg Multiple submitters C1Q deficiency 2 ⚠
- p.Pro32His Multiple submitters C1Q deficiency 2 ⚠
- p.Pro39Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro81Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro9Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ser111Leu Multiple submitters Inborn genetic diseases ⚠
- p.Val130Ile Multiple submitters C1Q deficiency 2 ⚠
- p.Val143Met Multiple submitters C1Q deficiency 2 ⚠
- c.-3A>T Single submitter ⚠
- p.Ala121Thr Single submitter ⚠
- p.Ala172Thr Single submitter Inborn genetic diseases ⚠
- p.Ala172Val Single submitter ⚠
- p.Ala189Val Single submitter ⚠
- p.Arg126Gly Single submitter C1QB-related disorder ⚠
- p.Arg133His Single submitter Inborn genetic diseases ⚠
- p.Arg134Pro Single submitter C1Q deficiency 2 ⚠
- p.Arg139His Single submitter Inborn genetic diseases ⚠
- p.Arg154Cys Single submitter ⚠
- p.Arg154His Single submitter C1Q deficiency 2 ⚠
- p.Arg184Cys Single submitter C1Q deficiency 2 ⚠
- p.Arg184Gly Single submitter Inborn genetic diseases ⚠
- p.Arg184His Single submitter ⚠
- p.Arg186Trp Single submitter ⚠
- p.Arg188His Single submitter Inborn genetic diseases ⚠
- p.Asn150Ser Single submitter C1Q deficiency 2 ⚠
- p.Asp113Tyr Single submitter ⚠
- p.Asp226Asn Single submitter ⚠
- p.Asp68Glu Single submitter Inborn genetic diseases ⚠
- p.Gln26Arg Single submitter ⚠
- p.Gln26His Single submitter ⚠
- p.Gly164Ser Single submitter cystic fibrosis ⚠
- p.Gly176Glu Single submitter C1Q deficiency 2 ⚠
- p.Gly208Asp Single submitter C1Q deficiency 2 ⚠
- p.Gly242Ala Single submitter ⚠
- p.Gly55Ala Single submitter ⚠
- p.Gly70Ser Single submitter ⚠
- p.Gly79Arg Single submitter ⚠
- p.Gly98Asp Single submitter ⚠
- p.His142Tyr Single submitter Inborn genetic diseases ⚠
- p.His69Tyr Single submitter C1Q deficiency 2 ⚠
- p.Ile20Val Single submitter Inborn genetic diseases ⚠
- p.Leu14Phe Single submitter Inborn genetic diseases ⚠
- p.Leu16Phe Single submitter C1Q deficiency 2 ⚠
- p.Leu27Phe Single submitter Inborn genetic diseases ⚠
- p.Lys108Arg Single submitter Inborn genetic diseases ⚠
- p.Lys161Gln Single submitter Inborn genetic diseases ⚠
- p.Lys96Glu Single submitter Inborn genetic diseases ⚠
- p.Met12Ile Single submitter C1Q deficiency 2 ⚠
- p.Met147Leu Single submitter ⚠
- p.Met147Thr Single submitter Inborn genetic diseases ⚠
- p.Met249Val Single submitter ⚠
- p.Phe72Val Single submitter Inborn genetic diseases ⚠
- p.Pro102Arg Single submitter Inborn genetic diseases ⚠
- p.Pro102Leu Single submitter C1Q deficiency 2 ⚠
- p.Pro107Leu Single submitter ⚠
- p.Pro153Thr Single submitter ⚠
- p.Pro163His Single submitter Inborn genetic diseases ⚠
- p.Pro163Leu Single submitter ⚠
- p.Pro45Arg Single submitter C1Q deficiency 2 ⚠
- p.Pro9Leu Single submitter ⚠
- p.Thr125Ile Single submitter C1Q deficiency 2 ⚠
- p.Thr137Ser Single submitter C1Q deficiency 2 ⚠
- p.Thr145Asn Single submitter C1Q deficiency 2 ⚠
- p.Thr202Ile Single submitter ⚠
- p.Thr30Ser Single submitter C1Q deficiency 2 ⚠
- p.Trp5Gly Single submitter ⚠
- p.Tyr114Phe Single submitter ⚠
- p.Val143Ala Single submitter C1Q deficiency 2 ⚠
- p.Val162Leu Single submitter Inborn genetic diseases ⚠