C1QL2 — 37 ClinVar variants
All ClinVar germline C1QL2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 36 flagged for review →
1 Benign · 36 Uncertain significance
Full C1QL2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 36
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 20
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- C1QL2 p.Ala123Val Uncertain significance Single submitter
- C1QL2 p.Ala126Thr Uncertain significance Single submitter
- C1QL2 p.Ala8Val Uncertain significance Single submitter
- C1QL2 p.Arg90Gly Uncertain significance Single submitter
- C1QL2 p.Glu43Lys Uncertain significance Single submitter
- C1QL2 p.Gly115Glu Uncertain significance Single submitter
- C1QL2 p.Gly270Glu Uncertain significance Single submitter
- C1QL2 p.Gly82Glu Uncertain significance Single submitter
- C1QL2 p.Gly88Trp Uncertain significance Single submitter
- C1QL2 p.His252Pro Uncertain significance Single submitter
- C1QL2 p.Lys86Arg Uncertain significance Single submitter
- C1QL2 p.Met62Thr Uncertain significance Single submitter
- C1QL2 p.Pro17Leu Uncertain significance Single submitter
- C1QL2 p.Pro54Leu Uncertain significance Single submitter
- C1QL2 p.Pro69Ser Uncertain significance Single submitter
- C1QL2 p.Pro70Ser Uncertain significance Single submitter
- C1QL2 p.Pro92Leu Uncertain significance Single submitter
- C1QL2 p.Ser127Arg Uncertain significance Single submitter
- C1QL2 p.Thr125Met Uncertain significance Single submitter
- C1QL2 p.Val229Gly Uncertain significance Single submitter
Predictors split 16
The independent predictors disagree with each other — read with care.
- C1QL2 p.Ala16Thr Uncertain significance Single submitter
- C1QL2 p.Arg90Gln Uncertain significance Single submitter
- C1QL2 p.Asp34Tyr Uncertain significance Single submitter
- C1QL2 p.Asp80Tyr Uncertain significance Single submitter
- C1QL2 p.Gly128Asp Uncertain significance Single submitter
- C1QL2 p.Gly227Arg Uncertain significance Single submitter
- C1QL2 p.Pro10Leu Uncertain significance Single submitter
- C1QL2 p.Pro190Thr Uncertain significance Single submitter
- C1QL2 p.Pro286Ser Uncertain significance Single submitter
- C1QL2 p.Pro77Leu Uncertain significance Single submitter
- C1QL2 p.Pro84Leu Uncertain significance Single submitter
- C1QL2 p.Pro93Ala Uncertain significance Single submitter
- C1QL2 p.Pro98Leu Uncertain significance Single submitter
- C1QL2 p.Ser151Arg Uncertain significance Single submitter
- C1QL2 p.Ser66Arg Uncertain significance Single submitter
- C1QL2 p.Val138Ile Uncertain significance Single submitter
All C1QL2 variants
Benign 1
- p.Ile32= Multiple submitters
Uncertain significance 36
- p.Ala123Val Single submitter ⚠
- p.Ala126Thr Single submitter ⚠
- p.Ala16Thr Single submitter ⚠
- p.Ala8Val Single submitter ⚠
- p.Arg90Gln Single submitter ⚠
- p.Arg90Gly Single submitter ⚠
- p.Asp34Tyr Single submitter ⚠
- p.Asp80Tyr Single submitter ⚠
- p.Glu43Lys Single submitter ⚠
- p.Gly115Glu Single submitter ⚠
- p.Gly128Asp Single submitter ⚠
- p.Gly227Arg Single submitter ⚠
- p.Gly270Glu Single submitter ⚠
- p.Gly82Glu Single submitter ⚠
- p.Gly88Trp Single submitter ⚠
- p.His252Pro Single submitter ⚠
- p.Lys86Arg Single submitter ⚠
- p.Met62Thr Single submitter ⚠
- p.Pro10Leu Single submitter ⚠
- p.Pro17Leu Single submitter ⚠
- p.Pro190Thr Single submitter ⚠
- p.Pro286Ser Single submitter ⚠
- p.Pro54Leu Single submitter ⚠
- p.Pro69Ser Single submitter ⚠
- p.Pro70Ser Single submitter ⚠
- p.Pro77Leu Single submitter ⚠
- p.Pro84Leu Single submitter ⚠
- p.Pro92Leu Single submitter ⚠
- p.Pro93Ala Single submitter ⚠
- p.Pro98Leu Single submitter ⚠
- p.Ser127Arg Single submitter ⚠
- p.Ser151Arg Single submitter ⚠
- p.Ser66Arg Single submitter ⚠
- p.Thr125Met Single submitter ⚠
- p.Val138Ile Single submitter ⚠
- p.Val229Gly Single submitter ⚠