C1QTNF2 — 62 ClinVar variants
All ClinVar germline C1QTNF2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 52 flagged for review →
1 Likely benign · 61 Uncertain significance
Full C1QTNF2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 52
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 30
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- C1QTNF2 p.Ala105Thr Uncertain significance Single submitter
- C1QTNF2 p.Ala50Ser Uncertain significance Single submitter
- C1QTNF2 p.Arg221Trp Uncertain significance Single submitter
- C1QTNF2 p.Arg24His Uncertain significance Single submitter
- C1QTNF2 p.Arg75Gln Uncertain significance Single submitter
- C1QTNF2 p.Arg75Pro Uncertain significance Single submitter
- C1QTNF2 p.Arg90Gln Uncertain significance Single submitter
- C1QTNF2 p.Asp231Asn Uncertain significance Single submitter
- C1QTNF2 p.Asp278Asn Uncertain significance Single submitter
- C1QTNF2 p.Asp281Glu Uncertain significance Single submitter
- C1QTNF2 p.Gln279His Uncertain significance Single submitter
- C1QTNF2 p.Glu176Lys Uncertain significance Single submitter
- C1QTNF2 p.Glu284Lys Uncertain significance Single submitter
- C1QTNF2 p.Gly211Val Uncertain significance Single submitter
- C1QTNF2 p.Gly46Arg Uncertain significance Single submitter
- C1QTNF2 p.Gly67Ser Uncertain significance Single submitter
- C1QTNF2 p.Gly73Ser Uncertain significance Single submitter
- C1QTNF2 p.Gly76Arg Uncertain significance Single submitter
- C1QTNF2 p.His230Tyr Uncertain significance Single submitter
- C1QTNF2 p.Ile210Val Uncertain significance Single submitter
- C1QTNF2 p.Lys119Glu Uncertain significance Single submitter
- C1QTNF2 p.Phe197Leu Uncertain significance Single submitter
- C1QTNF2 p.Phe273Leu Uncertain significance Single submitter
- C1QTNF2 p.Pro166Ala Uncertain significance Single submitter
- C1QTNF2 p.Ser268Arg Uncertain significance Single submitter
- C1QTNF2 p.Thr116Ile Uncertain significance Single submitter
- C1QTNF2 p.Thr122Ile Uncertain significance Single submitter
- C1QTNF2 p.Thr202Met Uncertain significance Single submitter
- C1QTNF2 p.Val188Ile Uncertain significance Single submitter
- C1QTNF2 p.Val232Met Uncertain significance Single submitter
Predictors split 22
The independent predictors disagree with each other — read with care.
- C1QTNF2 p.Arg164Trp Uncertain significance Single submitter
- C1QTNF2 p.Arg221Gln Uncertain significance Single submitter
- C1QTNF2 p.Arg75Leu Uncertain significance Single submitter
- C1QTNF2 p.Arg90Trp Uncertain significance Single submitter
- C1QTNF2 p.Asn205Lys Uncertain significance Single submitter
- C1QTNF2 p.Asp278Val Uncertain significance Single submitter
- C1QTNF2 p.Asp69His Uncertain significance Single submitter
- C1QTNF2 p.Asp72Asn Uncertain significance Single submitter
- C1QTNF2 p.Asp72Tyr Uncertain significance Single submitter
- C1QTNF2 p.Asp74Asn Uncertain significance Single submitter
- C1QTNF2 p.Asp77Asn Uncertain significance Single submitter
- C1QTNF2 p.Gln256Lys Uncertain significance Single submitter
- C1QTNF2 p.Gly139Ser Uncertain significance Single submitter
- C1QTNF2 p.Gly244Arg Uncertain significance Single submitter
- C1QTNF2 p.Gly244Asp Uncertain significance Single submitter
- C1QTNF2 p.His214Arg Uncertain significance Single submitter
- C1QTNF2 p.Pro41Thr Uncertain significance Single submitter
- C1QTNF2 p.Ser254Pro Uncertain significance Single submitter
- C1QTNF2 p.Ser31Phe Uncertain significance Single submitter
- C1QTNF2 p.Tyr261Cys Uncertain significance Single submitter
- C1QTNF2 p.Tyr276Cys Uncertain significance Single submitter
- C1QTNF2 p.Val5Ala Uncertain significance Single submitter
All C1QTNF2 variants
Likely benign 1
- p.Arg28Gln Single submitter
Uncertain significance 61
- c.-104G>A Single submitter
- c.-35C>T Single submitter
- c.-41G>A Single submitter
- c.-45T>C Single submitter
- c.-71C>T Single submitter
- c.-75G>C Single submitter
- c.-98C>T Single submitter
- p.Ala105Thr Single submitter ⚠
- p.Ala50Ser Single submitter ⚠
- p.Arg164Trp Single submitter ⚠
- p.Arg221Gln Single submitter ⚠
- p.Arg221Trp Single submitter ⚠
- p.Arg24His Single submitter ⚠
- p.Arg75Gln Single submitter ⚠
- p.Arg75Leu Single submitter ⚠
- p.Arg75Pro Single submitter ⚠
- p.Arg90Gln Single submitter ⚠
- p.Arg90Trp Single submitter ⚠
- p.Asn205Lys Single submitter ⚠
- p.Asp231Asn Single submitter ⚠
- p.Asp278Asn Single submitter ⚠
- p.Asp278Val Single submitter ⚠
- p.Asp281Glu Single submitter ⚠
- p.Asp69His Single submitter ⚠
- p.Asp72Asn Single submitter ⚠
- p.Asp72Tyr Single submitter ⚠
- p.Asp74Asn Single submitter ⚠
- p.Asp77Asn Single submitter ⚠
- p.Gln256Lys Single submitter ⚠
- p.Gln279His Single submitter ⚠
- p.Glu176Lys Single submitter ⚠
- p.Glu284Lys Single submitter ⚠
- p.Gly139Ser Single submitter ⚠
- p.Gly211Val Single submitter ⚠
- p.Gly244Arg Single submitter ⚠
- p.Gly244Asp Single submitter ⚠
- p.Gly2Arg Single submitter
- p.Gly2Glu Single submitter
- p.Gly46Arg Single submitter ⚠
- p.Gly67Ser Single submitter ⚠
- p.Gly73Ser Single submitter ⚠
- p.Gly76Arg Single submitter ⚠
- p.His214Arg Single submitter ⚠
- p.His230Tyr Single submitter ⚠
- p.Ile210Val Single submitter ⚠
- p.Lys119Glu Single submitter ⚠
- p.Phe197Leu Single submitter ⚠
- p.Phe273Leu Single submitter ⚠
- p.Pro166Ala Single submitter ⚠
- p.Pro41Thr Single submitter ⚠
- p.Ser254Pro Single submitter ⚠
- p.Ser268Arg Single submitter ⚠
- p.Ser31Phe Single submitter ⚠
- p.Thr116Ile Single submitter ⚠
- p.Thr122Ile Single submitter ⚠
- p.Thr202Met Single submitter ⚠
- p.Tyr261Cys Single submitter ⚠
- p.Tyr276Cys Single submitter ⚠
- p.Val188Ile Single submitter ⚠
- p.Val232Met Single submitter ⚠
- p.Val5Ala Single submitter ⚠