C1QL1 — 41 ClinVar variants
All ClinVar germline C1QL1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 41 flagged for review →
1 Likely benign · 40 Uncertain significance
Full C1QL1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 41
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 22
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- C1QL1 p.Ala113Val Uncertain significance Single submitter
- C1QL1 p.Ala131Thr Uncertain significance Single submitter
- C1QL1 p.Ala226Pro Uncertain significance Single submitter
- C1QL1 p.Ala42Thr Uncertain significance Single submitter
- C1QL1 p.Arg38Leu Uncertain significance Single submitter
- C1QL1 p.Asp186Gly Uncertain significance Single submitter
- C1QL1 p.Asp86Tyr Uncertain significance Single submitter
- C1QL1 p.Gly100Asp Uncertain significance Single submitter
- C1QL1 p.Gly106Arg Uncertain significance Single submitter
- C1QL1 p.Gly109Glu Uncertain significance Single submitter
- C1QL1 p.Gly172Ser Uncertain significance Single submitter
- C1QL1 p.Gly187Ser Uncertain significance Single submitter
- C1QL1 p.Gly76Arg Uncertain significance Single submitter
- C1QL1 p.Gly76Ser Uncertain significance Single submitter
- C1QL1 p.Gly88Ala Uncertain significance Single submitter
- C1QL1 p.Ile221Phe Uncertain significance Single submitter
- C1QL1 p.Ile232Val Uncertain significance Single submitter
- C1QL1 p.Ile255Thr Uncertain significance Single submitter
- C1QL1 p.Pro18Leu Uncertain significance Single submitter
- C1QL1 p.Pro59Ser Uncertain significance Single submitter
- C1QL1 p.Ser219Gly Uncertain significance Single submitter
- C1QL1 p.Val7Leu Uncertain significance Single submitter
Predictors split 19
The independent predictors disagree with each other — read with care.
- C1QL1 p.Ala204Ser Uncertain significance Single submitter
- C1QL1 p.Arg29Leu Uncertain significance Single submitter
- C1QL1 p.Gln66Glu Uncertain significance Single submitter
- C1QL1 p.Gly114Arg Uncertain significance Single submitter
- C1QL1 p.Gly115Asp Uncertain significance Single submitter
- C1QL1 p.Gly115Val Uncertain significance Single submitter
- C1QL1 p.Gly117Cys Uncertain significance Single submitter
- C1QL1 p.Gly41Cys Uncertain significance Single submitter
- C1QL1 p.Lys147Arg Uncertain significance Single submitter
- C1QL1 p.Pro105Leu Uncertain significance Single submitter
- C1QL1 p.Pro59Arg Uncertain significance Single submitter
- C1QL1 p.Pro60Arg Uncertain significance Single submitter
- C1QL1 p.Pro81Ala Uncertain significance Single submitter
- C1QL1 p.Pro81Leu Uncertain significance Single submitter
- C1QL1 p.Pro96Ser Uncertain significance Single submitter
- C1QL1 p.Thr126Lys Uncertain significance Single submitter
- C1QL1 p.Thr46Ile Uncertain significance Single submitter
- C1QL1 p.Val127Gly Uncertain significance Single submitter
-
C1QL1 p.Pro139Thr
Likely benign
No assertion criteria
EBV-positive nodal T- and NK-cell lymphoma
All C1QL1 variants
Likely benign 1
- p.Pro139Thr No assertion criteria EBV-positive nodal T- and NK-cell lymphoma ⚠
Uncertain significance 40
- p.Ala113Val Single submitter ⚠
- p.Ala131Thr Single submitter ⚠
- p.Ala204Ser Single submitter ⚠
- p.Ala226Pro Single submitter ⚠
- p.Ala42Thr Single submitter ⚠
- p.Arg29Leu Single submitter ⚠
- p.Arg38Leu Single submitter ⚠
- p.Asp186Gly Single submitter ⚠
- p.Asp86Tyr Single submitter ⚠
- p.Gln66Glu Single submitter ⚠
- p.Gly100Asp Single submitter ⚠
- p.Gly106Arg Single submitter ⚠
- p.Gly109Glu Single submitter ⚠
- p.Gly114Arg Single submitter ⚠
- p.Gly115Asp Single submitter ⚠
- p.Gly115Val Single submitter ⚠
- p.Gly117Cys Single submitter ⚠
- p.Gly172Ser Single submitter ⚠
- p.Gly187Ser Single submitter ⚠
- p.Gly41Cys Single submitter ⚠
- p.Gly76Arg Single submitter ⚠
- p.Gly76Ser Single submitter ⚠
- p.Gly88Ala Single submitter ⚠
- p.Ile221Phe Single submitter ⚠
- p.Ile232Val Single submitter ⚠
- p.Ile255Thr Single submitter ⚠
- p.Lys147Arg Single submitter ⚠
- p.Pro105Leu Single submitter ⚠
- p.Pro18Leu Single submitter ⚠
- p.Pro59Arg Single submitter ⚠
- p.Pro59Ser Single submitter ⚠
- p.Pro60Arg Single submitter ⚠
- p.Pro81Ala Single submitter ⚠
- p.Pro81Leu Single submitter ⚠
- p.Pro96Ser Single submitter ⚠
- p.Ser219Gly Single submitter ⚠
- p.Thr126Lys Single submitter ⚠
- p.Thr46Ile Single submitter ⚠
- p.Val127Gly Single submitter ⚠
- p.Val7Leu Single submitter ⚠