C1QTNF1 — 45 ClinVar variants
All ClinVar germline C1QTNF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 41 flagged for review →
1 Benign · 2 Likely benign · 42 Uncertain significance
Full C1QTNF1 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 27
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- C1QTNF1 p.Ala11Val Uncertain significance Single submitter
- C1QTNF1 p.Ala19Val Uncertain significance Single submitter
- C1QTNF1 p.Ala86Pro Uncertain significance Single submitter
- C1QTNF1 p.Ala88Thr Uncertain significance Single submitter
- C1QTNF1 p.Arg122Lys Uncertain significance Single submitter
- C1QTNF1 p.Arg152Trp Uncertain significance Single submitter
- C1QTNF1 p.Arg249Cys Uncertain significance Single submitter
- C1QTNF1 p.Arg255Pro Uncertain significance Single submitter
- C1QTNF1 p.Arg26Gly Uncertain significance Single submitter
- C1QTNF1 p.Arg26His Uncertain significance Single submitter
- C1QTNF1 p.Arg72Trp Uncertain significance Single submitter
- C1QTNF1 p.Arg75His Uncertain significance Single submitter
- C1QTNF1 p.Asn179Asp Uncertain significance Single submitter
- C1QTNF1 p.Asp65His Uncertain significance Single submitter
- C1QTNF1 p.Glu33Asp Uncertain significance Single submitter
- C1QTNF1 p.Glu42Val Uncertain significance Single submitter
- C1QTNF1 p.Gly105Arg Uncertain significance Single submitter
- C1QTNF1 p.Ile211Val Uncertain significance Single submitter
- C1QTNF1 p.Leu174Val Uncertain significance Single submitter
- C1QTNF1 p.Met180Leu Uncertain significance Single submitter
- C1QTNF1 p.Met83Thr Uncertain significance Single submitter
- C1QTNF1 p.Pro85Leu Uncertain significance Single submitter
- C1QTNF1 p.Ser143Gly Uncertain significance Single submitter
- C1QTNF1 p.Ser233Asn Uncertain significance Single submitter
- C1QTNF1 p.Ser235Asn Uncertain significance Single submitter
- C1QTNF1 p.Ser45Leu Uncertain significance Single submitter
- C1QTNF1 p.Thr125Ile Uncertain significance Single submitter
Predictors split 14
The independent predictors disagree with each other — read with care.
- C1QTNF1 p.Ala278Thr Uncertain significance Single submitter
- C1QTNF1 p.Arg104Gly Uncertain significance Single submitter
- C1QTNF1 p.Arg104His Uncertain significance Single submitter
- C1QTNF1 p.Arg122Thr Uncertain significance Single submitter
- C1QTNF1 p.Arg26Cys Uncertain significance Single submitter
- C1QTNF1 p.Cys76Phe Uncertain significance Single submitter
- C1QTNF1 p.Glu100Lys Uncertain significance Single submitter
- C1QTNF1 p.Glu41Lys Uncertain significance Single submitter
- C1QTNF1 p.Glu51Lys Uncertain significance Single submitter
- C1QTNF1 p.His157Gln Uncertain significance Single submitter
- C1QTNF1 p.Pro190Arg Uncertain significance Single submitter
- C1QTNF1 p.Thr164Arg Uncertain significance Single submitter
- C1QTNF1 p.Thr164Met Uncertain significance Single submitter
- C1QTNF1 p.Tyr161Cys Uncertain significance Single submitter
All C1QTNF1 variants
Benign 1
- p.Tyr145= Multiple submitters
Likely benign 2
- p.Arg72Gln Single submitter
- p.Phe167= Single submitter
Uncertain significance 42
- p.Ala11Val Single submitter ⚠
- p.Ala19Val Single submitter ⚠
- p.Ala278Thr Single submitter ⚠
- p.Ala86Pro Single submitter ⚠
- p.Ala88Thr Single submitter ⚠
- p.Arg104Gly Single submitter ⚠
- p.Arg104His Single submitter ⚠
- p.Arg122Lys Single submitter ⚠
- p.Arg122Thr Single submitter ⚠
- p.Arg152Trp Single submitter ⚠
- p.Arg249Cys Single submitter ⚠
- p.Arg255Pro Single submitter ⚠
- p.Arg26Cys Single submitter ⚠
- p.Arg26Gly Single submitter ⚠
- p.Arg26His Single submitter ⚠
- p.Arg72Trp Single submitter ⚠
- p.Arg75His Single submitter ⚠
- p.Asn179Asp Single submitter ⚠
- p.Asp65His Single submitter ⚠
- p.Cys76Phe Single submitter ⚠
- p.Glu100Lys Single submitter ⚠
- p.Glu33Asp Single submitter ⚠
- p.Glu41Lys Single submitter ⚠
- p.Glu42Val Single submitter ⚠
- p.Glu51Lys Single submitter ⚠
- p.Gly105Arg Single submitter ⚠
- p.Gly226fs Single submitter
- p.His157Gln Single submitter ⚠
- p.Ile211Val Single submitter ⚠
- p.Leu174Val Single submitter ⚠
- p.Met180Leu Single submitter ⚠
- p.Met83Thr Single submitter ⚠
- p.Pro190Arg Single submitter ⚠
- p.Pro85Leu Single submitter ⚠
- p.Ser143Gly Single submitter ⚠
- p.Ser233Asn Single submitter ⚠
- p.Ser235Asn Single submitter ⚠
- p.Ser45Leu Single submitter ⚠
- p.Thr125Ile Single submitter ⚠
- p.Thr164Arg Single submitter ⚠
- p.Thr164Met Single submitter ⚠
- p.Tyr161Cys Single submitter ⚠