C1QC — 175 ClinVar variants
All ClinVar germline C1QC variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 63 flagged for review →
2 Pathogenic · 6 Conflicting · 10 Benign · 3 Benign/Likely benign · 75 Likely benign · 79 Uncertain significance
Full C1QC gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 63
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 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
C1QC p.Ala142Thr
Conflicting
Single submitter
Inborn genetic diseases
-
C1QC p.Thr196Met
Conflicting
Single submitter
Inborn genetic diseases
-
C1QC p.Val3Ala
Conflicting
Single submitter
C1Q deficiency
Predictors lean, ClinVar uncertain 51
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- C1QC p.Ala172Val Uncertain significance Multiple submitters
-
C1QC p.Arg184His
Uncertain significance
Multiple submitters
Inborn genetic diseases
- C1QC p.Asp2Asn Uncertain significance Multiple submitters
-
C1QC p.Glu77Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
C1QC p.Lys188Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- C1QC p.Pro5Arg Uncertain significance Multiple submitters
-
C1QC p.Pro71Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- C1QC p.Pro78Ser Uncertain significance Multiple submitters
-
C1QC p.Thr153Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
C1QC p.Val180Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
C1QC p.Val228Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
C1QC p.Val236Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
C1QC p.Val98Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
- C1QC p.Ala142Glu Uncertain significance Single submitter
- C1QC p.Arg210Gly Uncertain significance Single submitter
-
C1QC p.Asn146Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
C1QC p.Asp226Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- C1QC p.Asp245Asn Uncertain significance Single submitter
- C1QC p.Asp2Tyr Uncertain significance Single submitter
- C1QC p.Asp51Val Uncertain significance Single submitter
- C1QC p.Glu107Asp Uncertain significance Single submitter
- C1QC p.Glu107Lys Uncertain significance Single submitter
- C1QC p.Glu215Asp Uncertain significance Single submitter
- C1QC p.Gly149Arg Uncertain significance Single submitter
- C1QC p.Gly186Ser Uncertain significance Single submitter
- C1QC p.Gly194Ser Uncertain significance Single submitter
-
C1QC p.Gly232Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
C1QC p.Gly43Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- C1QC p.Gly55Glu Uncertain significance Single submitter
- C1QC p.Ile104Val Uncertain significance Single submitter
- C1QC p.Ile230Phe Uncertain significance Single submitter
- C1QC p.Ile35Val Uncertain significance Single submitter
-
C1QC p.Leu11Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
C1QC p.Leu182Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- C1QC p.Leu8Pro Uncertain significance Single submitter
-
C1QC p.Lys188Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
C1QC p.Pro131Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- C1QC p.Pro131Arg Uncertain significance Single submitter
-
C1QC p.Pro147Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
C1QC p.Pro89Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- C1QC p.Pro92Thr Uncertain significance Single submitter
-
C1QC p.Ser136Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- C1QC p.Ser154Gly Uncertain significance Single submitter
-
C1QC p.Thr153Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- C1QC p.Thr175Arg Uncertain significance Single submitter
-
C1QC p.Thr191Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
C1QC p.Thr196Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
C1QC p.Tyr225Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- C1QC p.Val213Leu Uncertain significance Single submitter
- C1QC p.Val213Met Uncertain significance Single submitter
- C1QC p.Val228Leu Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
-
C1QC p.Arg126Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
C1QC p.Lys72Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- C1QC p.Arg184Cys Uncertain significance Single submitter
- C1QC p.Glu77Gly Uncertain significance Single submitter
-
C1QC p.Gly164Ser
Uncertain significance
Single submitter
C1Q deficiency
- C1QC p.Lys57Gln Uncertain significance Single submitter
- C1QC p.Phe122Leu Uncertain significance Single submitter
- C1QC p.Pro39Leu Uncertain significance Single submitter
-
C1QC p.Thr159Asn
Uncertain significance
Single submitter
Inborn genetic diseases
All C1QC variants
Pathogenic 2
- p.Gly34Arg Multiple submitters C1Q deficiency
- p.Arg69Ter Single submitter C1Q deficiency
Conflicting classifications of pathogenicity 6
- p.Ala142Thr Single submitter Inborn genetic diseases ⚠
- p.Gln74fs Single submitter C1QC-related disorders
- p.Pro71fs Single submitter C1Q deficiency 3
- p.Ser7Asn Single submitter C1Q deficiency
- p.Thr196Met Single submitter Inborn genetic diseases ⚠
- p.Val3Ala Single submitter C1Q deficiency ⚠
Benign 10
- c.181+131G>T Multiple submitters
- c.181+211C>T Multiple submitters
- c.181+228T>C Multiple submitters
- c.181+93A>T Multiple submitters
- c.182-21C>G Multiple submitters
- c.-3G>A Multiple submitters
- c.*21C>A Multiple submitters
- p.Val187Ile Multiple submitters
- c.*17C>T Single submitter
- c.*272_*273del Single submitter
Benign/Likely benign 3
Likely benign 75
- p.Ala142= Multiple submitters
- p.Ala172= Multiple submitters
- p.Arg210= Multiple submitters
- p.Asn141= Multiple submitters
- p.Asp2= Multiple submitters
- p.Asp51= Multiple submitters
- p.Gly194= Multiple submitters
- p.Gly205= Multiple submitters
- p.Gly214= Multiple submitters
- p.Ile104= Multiple submitters
- p.Ile230= Multiple submitters
- p.Pro147= Multiple submitters
- p.Pro54= Multiple submitters
- p.Pro99= Multiple submitters
- p.Ser7Thr Multiple submitters
- p.Ser7Tyr Multiple submitters
- p.Thr153= Multiple submitters
- p.Val124= Multiple submitters
- c.181+17G>A Single submitter
- c.181+18G>C Single submitter
- c.181+20T>C Single submitter
- p.Ala176= Single submitter
- p.Arg184= Single submitter
- p.Asn203= Single submitter
- p.Asp234= Single submitter
- p.Cys179= Single submitter
- p.Gln74= Single submitter
- p.Glu111= Single submitter
- p.Gly100= Single submitter
- p.Gly112= Single submitter
- p.Gly186= Single submitter
- p.Gly206= Single submitter
- p.Gly239= Single submitter
- p.Gly49= Single submitter
- p.Gly85= Single submitter
- p.Gly91= Single submitter
- p.His10= Single submitter
- p.His171= Single submitter
- p.His83= Single submitter
- p.Leu15= Single submitter
- p.Leu16= Single submitter
- p.Leu20= Single submitter
- p.Leu21= Single submitter
- p.Leu241= Single submitter
- p.Leu242= Single submitter
- p.Leu53= Single submitter
- p.Lys14= Single submitter
- p.Lys47= Single submitter
- p.Lys75= Single submitter
- p.Phe122= Single submitter
- p.Phe237= Single submitter
- p.Pro163= Single submitter
- p.Pro244= Single submitter
- p.Pro39= Single submitter
- p.Pro78= Single submitter
- p.Pro81= Single submitter
- p.Pro84= Single submitter
- p.Pro96= Single submitter
- p.Ser173= Single submitter
- p.Ser185= Single submitter
- p.Ser204= Single submitter
- p.Ser238= Single submitter
- p.Ser6= Single submitter
- p.Thr123= Single submitter
- p.Thr159= Single submitter
- p.Thr191= Single submitter
- p.Thr196= Single submitter
- p.Thr30= Single submitter
- p.Tyr114= Single submitter
- p.Tyr33= Single submitter
- p.Tyr50= Single submitter
- p.Val143= Single submitter
- p.Val169= Single submitter
- p.Val180= Single submitter
- p.Val187= Single submitter
Uncertain significance 79
- p.Ala172Val Multiple submitters ⚠
- p.Arg126Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg184His Multiple submitters Inborn genetic diseases ⚠
- p.Asp2Asn Multiple submitters ⚠
- p.Glu77Lys Multiple submitters Inborn genetic diseases ⚠
- p.Gly67Arg Multiple submitters Inborn genetic diseases
- p.His171Gln Multiple submitters
- p.Lys188Ile Multiple submitters Inborn genetic diseases ⚠
- p.Lys72Thr Multiple submitters Inborn genetic diseases ⚠
- p.Pro5Arg Multiple submitters ⚠
- p.Pro71Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro78Ser Multiple submitters ⚠
- p.Thr123Met Multiple submitters
- p.Thr153Met Multiple submitters Inborn genetic diseases ⚠
- p.Val180Met Multiple submitters Inborn genetic diseases ⚠
- p.Val228Ala Multiple submitters Inborn genetic diseases ⚠
- p.Val236Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val98Gly Multiple submitters Inborn genetic diseases ⚠
- c.181+6T>A Single submitter
- c.*14G>A Single submitter
- p.Ala142Glu Single submitter ⚠
- p.Arg126Trp Single submitter
- p.Arg184Cys Single submitter ⚠
- p.Arg210Gly Single submitter ⚠
- p.Asn141Tyr Single submitter
- p.Asn146Lys Single submitter Inborn genetic diseases ⚠
- p.Asn177Lys Single submitter
- p.Asp226Asn Single submitter Inborn genetic diseases ⚠
- p.Asp245Asn Single submitter ⚠
- p.Asp2Tyr Single submitter ⚠
- p.Asp51Val Single submitter ⚠
- p.Glu107Asp Single submitter ⚠
- p.Glu107Lys Single submitter ⚠
- p.Glu215Asp Single submitter ⚠
- p.Glu215Lys Single submitter
- p.Glu216del Single submitter C1Q deficiency
- p.Glu77Gly Single submitter ⚠
- p.Gly149Arg Single submitter ⚠
- p.Gly164Ser Single submitter C1Q deficiency ⚠
- p.Gly186Ser Single submitter ⚠
- p.Gly194Ser Single submitter ⚠
- p.Gly232Ser Single submitter Inborn genetic diseases ⚠
- p.Gly43Arg Single submitter Inborn genetic diseases ⚠
- p.Gly55Glu Single submitter ⚠
- p.Gly91Ter Single submitter
- p.Ile104Val Single submitter ⚠
- p.Ile138Phe Single submitter
- p.Ile230Phe Single submitter ⚠
- p.Ile35Val Single submitter ⚠
- p.Leu11Phe Single submitter Inborn genetic diseases ⚠
- p.Leu182Pro Single submitter Inborn genetic diseases ⚠
- p.Leu22_Pro23insLeu Single submitter
- p.Leu8Pro Single submitter ⚠
- p.Lys188Asn Single submitter Inborn genetic diseases ⚠
- p.Lys57Gln Single submitter ⚠
- p.Met90fs Single submitter
- p.Phe122Leu Single submitter ⚠
- p.Pro131Ala Single submitter Inborn genetic diseases ⚠
- p.Pro131Arg Single submitter ⚠
- p.Pro147Leu Single submitter Inborn genetic diseases ⚠
- p.Pro39Leu Single submitter ⚠
- p.Pro89Ser Single submitter Inborn genetic diseases ⚠
- p.Pro92Thr Single submitter ⚠
- p.Ser136Asn Single submitter Inborn genetic diseases ⚠
- p.Ser154Gly Single submitter ⚠
- p.Ser7fs Single submitter C1Q deficiency
- p.Thr123fs Single submitter
- p.Thr128= Single submitter
- p.Thr153Arg Single submitter Inborn genetic diseases ⚠
- p.Thr159Asn Single submitter Inborn genetic diseases ⚠
- p.Thr175Arg Single submitter ⚠
- p.Thr191Ile Single submitter Inborn genetic diseases ⚠
- p.Thr196Arg Single submitter Inborn genetic diseases ⚠
- p.Tyr183Cys Single submitter
- p.Tyr225Cys Single submitter Inborn genetic diseases ⚠
- p.Val202Leu Single submitter Inborn genetic diseases
- p.Val213Leu Single submitter ⚠
- p.Val213Met Single submitter ⚠
- p.Val228Leu Single submitter ⚠