C1QL3 — 30 ClinVar variants
All ClinVar germline C1QL3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 29 flagged for review →
1 Benign · 29 Uncertain significance
Full C1QL3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 29
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 15
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- C1QL3 p.Ala40Val Uncertain significance Single submitter
- C1QL3 p.Arg98Pro Uncertain significance Single submitter
- C1QL3 p.Gln99Pro Uncertain significance Single submitter
- C1QL3 p.Glu23Lys Uncertain significance Single submitter
- C1QL3 p.Glu92Gln Uncertain significance Single submitter
- C1QL3 p.Gly114Arg Uncertain significance Single submitter
- C1QL3 p.Gly67Cys Uncertain significance Single submitter
- C1QL3 p.Gly76Arg Uncertain significance Single submitter
- C1QL3 p.Gly94Arg Uncertain significance Single submitter
- C1QL3 p.Gly94Asp Uncertain significance Single submitter
- C1QL3 p.His21Tyr Uncertain significance Single submitter
- C1QL3 p.Ile7Val Uncertain significance Single submitter
- C1QL3 p.Leu4Val Uncertain significance Single submitter
- C1QL3 p.Thr150Asn Uncertain significance Single submitter
- C1QL3 p.Thr57Ser Uncertain significance Single submitter
Predictors split 14
The independent predictors disagree with each other — read with care.
- C1QL3 p.Asn111Lys Uncertain significance Single submitter
- C1QL3 p.Asp48His Uncertain significance Single submitter
- C1QL3 p.Gly109Asp Uncertain significance Single submitter
- C1QL3 p.Ile170Thr Uncertain significance Single submitter
- C1QL3 p.Lys126Gln Uncertain significance Single submitter
- C1QL3 p.Lys144Met Uncertain significance Single submitter
- C1QL3 p.Pro104Leu Uncertain significance Single submitter
- C1QL3 p.Pro125Ser Uncertain significance Single submitter
- C1QL3 p.Pro223Leu Uncertain significance Single submitter
- C1QL3 p.Pro69Ser Uncertain significance Single submitter
- C1QL3 p.Pro81Ser Uncertain significance Single submitter
- C1QL3 p.Tyr228Cys Uncertain significance Single submitter
- C1QL3 p.Tyr22Ser Uncertain significance Single submitter
- C1QL3 p.Val177Ile Uncertain significance Single submitter
All C1QL3 variants
Benign 1
- p.Leu152= Multiple submitters
Uncertain significance 29
- p.Ala40Val Single submitter ⚠
- p.Arg98Pro Single submitter ⚠
- p.Asn111Lys Single submitter ⚠
- p.Asp48His Single submitter ⚠
- p.Gln99Pro Single submitter ⚠
- p.Glu23Lys Single submitter ⚠
- p.Glu92Gln Single submitter ⚠
- p.Gly109Asp Single submitter ⚠
- p.Gly114Arg Single submitter ⚠
- p.Gly67Cys Single submitter ⚠
- p.Gly76Arg Single submitter ⚠
- p.Gly94Arg Single submitter ⚠
- p.Gly94Asp Single submitter ⚠
- p.His21Tyr Single submitter ⚠
- p.Ile170Thr Single submitter ⚠
- p.Ile7Val Single submitter ⚠
- p.Leu4Val Single submitter ⚠
- p.Lys126Gln Single submitter ⚠
- p.Lys144Met Single submitter ⚠
- p.Pro104Leu Single submitter ⚠
- p.Pro125Ser Single submitter ⚠
- p.Pro223Leu Single submitter ⚠
- p.Pro69Ser Single submitter ⚠
- p.Pro81Ser Single submitter ⚠
- p.Thr150Asn Single submitter ⚠
- p.Thr57Ser Single submitter ⚠
- p.Tyr228Cys Single submitter ⚠
- p.Tyr22Ser Single submitter ⚠
- p.Val177Ile Single submitter ⚠