C1QTNF3 — 36 ClinVar variants
All ClinVar germline C1QTNF3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 18 flagged for review →
1 Conflicting · 1 Likely benign · 34 Uncertain significance
Full C1QTNF3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 18
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 9
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- C1QTNF3 p.Arg306Cys Uncertain significance Single submitter
- C1QTNF3 p.Gly218Arg Uncertain significance Single submitter
- C1QTNF3 p.Ile217Thr Uncertain significance Single submitter
- C1QTNF3 p.Leu255Phe Uncertain significance Single submitter
- C1QTNF3 p.Leu255Val Uncertain significance Single submitter
- C1QTNF3 p.Pro176Thr Uncertain significance Single submitter
- C1QTNF3 p.Pro186Leu Uncertain significance Single submitter
- C1QTNF3 p.Ser102Phe Uncertain significance Single submitter
- C1QTNF3 p.Ser113Asn Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- C1QTNF3 p.Ala195Thr Uncertain significance Single submitter
- C1QTNF3 p.Arg294Gln Uncertain significance Single submitter
- C1QTNF3 p.Gln204His Uncertain significance Single submitter
- C1QTNF3 p.Leu315Val Uncertain significance Single submitter
- C1QTNF3 p.Lys284Asn Uncertain significance Single submitter
- C1QTNF3 p.Met295Ile Uncertain significance Single submitter
- C1QTNF3 p.Pro132Leu Uncertain significance Single submitter
- C1QTNF3 p.Pro135Ser Uncertain significance Single submitter
- C1QTNF3 p.Pro183Leu Uncertain significance Single submitter
All C1QTNF3 variants
Conflicting classifications of pathogenicity 1
- p.His86Tyr Single submitter
Likely benign 1
- p.Pro132= Single submitter
Uncertain significance 34
- p.Ala195Thr Single submitter ⚠
- p.Ala93Ser Single submitter
- p.Arg294Gln Single submitter ⚠
- p.Arg306Cys Single submitter ⚠
- p.Arg49His Single submitter
- p.Arg60Gln Single submitter
- p.Asn144Ser Single submitter
- p.Asn71Asp Single submitter
- p.Gln204His Single submitter ⚠
- p.Gln94Arg Single submitter
- p.Glu88Lys Single submitter
- p.Gly218Arg Single submitter ⚠
- p.Gly51Ser Single submitter
- p.His44Asn Single submitter
- p.Ile217Phe Single submitter
- p.Ile217Thr Single submitter ⚠
- p.Leu255Phe Single submitter ⚠
- p.Leu255Val Single submitter ⚠
- p.Leu315Val Single submitter ⚠
- p.Lys284Asn Single submitter ⚠
- p.Lys56Asn Single submitter
- p.Met295Ile Single submitter ⚠
- p.Pro132Leu Single submitter ⚠
- p.Pro135Ser Single submitter ⚠
- p.Pro176Thr Single submitter ⚠
- p.Pro183Leu Single submitter ⚠
- p.Pro186Leu Single submitter ⚠
- p.Pro63Ser Single submitter
- p.Pro81Ser Single submitter
- p.Pro85Leu Single submitter
- p.Ser102Phe Single submitter ⚠
- p.Ser113Asn Single submitter ⚠
- p.Ser30Gly Single submitter
- p.Thr65Pro Single submitter