C1QTNF7 — 49 ClinVar variants
All ClinVar germline C1QTNF7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 46 flagged for review →
2 Likely benign · 47 Uncertain significance
Full C1QTNF7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 46
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 26
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- C1QTNF7 p.Ala11Ser Uncertain significance Single submitter
- C1QTNF7 p.Arg127Lys Uncertain significance Single submitter
- C1QTNF7 p.Arg127Thr Uncertain significance Single submitter
- C1QTNF7 p.Arg140Gly Uncertain significance Single submitter
- C1QTNF7 p.Arg19Gln Uncertain significance Single submitter
- C1QTNF7 p.Arg19Trp Uncertain significance Single submitter
- C1QTNF7 p.Arg57His Uncertain significance Single submitter
- C1QTNF7 p.Asn179Lys Uncertain significance Single submitter
- C1QTNF7 p.Gln130Arg Uncertain significance Single submitter
- C1QTNF7 p.Gln240His Uncertain significance Single submitter
- C1QTNF7 p.Glu129Val Uncertain significance Single submitter
- C1QTNF7 p.Gly134Glu Uncertain significance Single submitter
- C1QTNF7 p.Gly68Ser Uncertain significance Single submitter
- C1QTNF7 p.Gly71Glu Uncertain significance Single submitter
- C1QTNF7 p.Gly92Ser Uncertain significance Single submitter
- C1QTNF7 p.His55Pro Uncertain significance Single submitter
- C1QTNF7 p.Ile154Val Uncertain significance Single submitter
- C1QTNF7 p.Ile192Asn Uncertain significance Single submitter
- C1QTNF7 p.Ile199Thr Uncertain significance Single submitter
- C1QTNF7 p.Ile237Thr Uncertain significance Single submitter
- C1QTNF7 p.Ile283Val Uncertain significance Single submitter
- C1QTNF7 p.Ile36Val Uncertain significance Single submitter
- C1QTNF7 p.Leu60Phe Uncertain significance Single submitter
- C1QTNF7 p.Lys112Ile Uncertain significance Single submitter
- C1QTNF7 p.Pro133Leu Uncertain significance Single submitter
- C1QTNF7 p.Thr100Ser Uncertain significance Single submitter
Predictors split 20
The independent predictors disagree with each other — read with care.
- C1QTNF7 p.Ala223Thr Uncertain significance Single submitter
- C1QTNF7 p.Arg217Gln Uncertain significance Single submitter
- C1QTNF7 p.Arg217Trp Uncertain significance Single submitter
- C1QTNF7 p.Asp67Ala Uncertain significance Single submitter
- C1QTNF7 p.Cys141Tyr Uncertain significance Single submitter
- C1QTNF7 p.Glu174Lys Uncertain significance Single submitter
- C1QTNF7 p.Gly80Ala Uncertain significance Single submitter
- C1QTNF7 p.His177Asn Uncertain significance Single submitter
- C1QTNF7 p.Ile166Met Uncertain significance Single submitter
- C1QTNF7 p.Ile218Val Uncertain significance Single submitter
- C1QTNF7 p.Ile36Thr Uncertain significance Single submitter
- C1QTNF7 p.Leu210Met Uncertain significance Single submitter
- C1QTNF7 p.Pro120Ala Uncertain significance Single submitter
- C1QTNF7 p.Pro180Ala Uncertain significance Single submitter
- C1QTNF7 p.Pro46Ala Uncertain significance Single submitter
- C1QTNF7 p.Pro52Ser Uncertain significance Single submitter
- C1QTNF7 p.Ser15Arg Uncertain significance Single submitter
- C1QTNF7 p.Ser15Cys Uncertain significance Single submitter
- C1QTNF7 p.Ser51Cys Uncertain significance Single submitter
- C1QTNF7 p.Tyr274His Uncertain significance Single submitter
All C1QTNF7 variants
Likely benign 2
- p.Ile118Val Single submitter
- p.Thr78Ala Single submitter
Uncertain significance 47
- c.-1G>C Single submitter
- p.Ala11Ser Single submitter ⚠
- p.Ala223Thr Single submitter ⚠
- p.Arg127Lys Single submitter ⚠
- p.Arg127Thr Single submitter ⚠
- p.Arg140Gly Single submitter ⚠
- p.Arg19Gln Single submitter ⚠
- p.Arg19Trp Single submitter ⚠
- p.Arg217Gln Single submitter ⚠
- p.Arg217Trp Single submitter ⚠
- p.Arg57His Single submitter ⚠
- p.Asn179Lys Single submitter ⚠
- p.Asp67Ala Single submitter ⚠
- p.Cys141Tyr Single submitter ⚠
- p.Gln130Arg Single submitter ⚠
- p.Gln240His Single submitter ⚠
- p.Glu129Val Single submitter ⚠
- p.Glu174Lys Single submitter ⚠
- p.Gly134Glu Single submitter ⚠
- p.Gly68Ser Single submitter ⚠
- p.Gly71Glu Single submitter ⚠
- p.Gly80Ala Single submitter ⚠
- p.Gly92Ser Single submitter ⚠
- p.His177Asn Single submitter ⚠
- p.His55Pro Single submitter ⚠
- p.Ile154Val Single submitter ⚠
- p.Ile166Met Single submitter ⚠
- p.Ile192Asn Single submitter ⚠
- p.Ile199Thr Single submitter ⚠
- p.Ile218Val Single submitter ⚠
- p.Ile237Thr Single submitter ⚠
- p.Ile283Val Single submitter ⚠
- p.Ile36Thr Single submitter ⚠
- p.Ile36Val Single submitter ⚠
- p.Leu210Met Single submitter ⚠
- p.Leu60Phe Single submitter ⚠
- p.Lys112Ile Single submitter ⚠
- p.Pro120Ala Single submitter ⚠
- p.Pro133Leu Single submitter ⚠
- p.Pro180Ala Single submitter ⚠
- p.Pro46Ala Single submitter ⚠
- p.Pro52Ser Single submitter ⚠
- p.Ser15Arg Single submitter ⚠
- p.Ser15Cys Single submitter ⚠
- p.Ser51Cys Single submitter ⚠
- p.Thr100Ser Single submitter ⚠
- p.Tyr274His Single submitter ⚠