C1QTNF9B — 68 ClinVar variants
All ClinVar germline C1QTNF9B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 62 flagged for review →
3 Benign · 5 Likely benign · 60 Uncertain significance
Full C1QTNF9B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 62
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 32
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- C1QTNF9B p.Ala106Ser Uncertain significance Single submitter
- C1QTNF9B p.Ala287Asp Uncertain significance Single submitter
- C1QTNF9B p.Ala48Glu Uncertain significance Single submitter
- C1QTNF9B p.Ala48Val Uncertain significance Single submitter
- C1QTNF9B p.Arg178Gln Uncertain significance Single submitter
- C1QTNF9B p.Arg310Lys Uncertain significance Single submitter
- C1QTNF9B p.Asn37Ser Uncertain significance Single submitter
- C1QTNF9B p.Asp21Gly Uncertain significance Single submitter
- C1QTNF9B p.Asp319Glu Uncertain significance Single submitter
- C1QTNF9B p.Asp320Asn Uncertain significance Single submitter
- C1QTNF9B p.Cys60Tyr Uncertain significance Single submitter
- C1QTNF9B p.Glu57Lys Uncertain significance Single submitter
- C1QTNF9B p.Gly116Glu Uncertain significance Single submitter
- C1QTNF9B p.Gly164Arg Uncertain significance Single submitter
- C1QTNF9B p.Gly32Arg Uncertain significance Single submitter
- C1QTNF9B p.Gly35Asp Uncertain significance Single submitter
- C1QTNF9B p.Gly38Val Uncertain significance Single submitter
- C1QTNF9B p.Gly47Arg Uncertain significance Single submitter
- C1QTNF9B p.Gly53Asp Uncertain significance Single submitter
- C1QTNF9B p.His27Gln Uncertain significance Single submitter
- C1QTNF9B p.Ile142Met Uncertain significance Single submitter
- C1QTNF9B p.Leu197Val Uncertain significance Single submitter
- C1QTNF9B p.Leu303Pro Uncertain significance Single submitter
- C1QTNF9B p.Leu314Ser Uncertain significance Single submitter
- C1QTNF9B p.Phe214Tyr Uncertain significance Single submitter
- C1QTNF9B p.Phe327Leu Uncertain significance Single submitter
- C1QTNF9B p.Thr148Ala Uncertain significance Single submitter
- C1QTNF9B p.Thr196Pro Uncertain significance Single submitter
- C1QTNF9B p.Thr205Ser Uncertain significance Single submitter
- C1QTNF9B p.Tyr249Cys Uncertain significance Single submitter
- C1QTNF9B p.Val264Glu Uncertain significance Single submitter
- C1QTNF9B p.Val82Ile Uncertain significance Single submitter
Predictors split 30
The independent predictors disagree with each other — read with care.
- C1QTNF9B p.Arg115Gly Uncertain significance Single submitter
- C1QTNF9B p.Arg178Trp Uncertain significance Single submitter
- C1QTNF9B p.Arg187Gly Uncertain significance Single submitter
- C1QTNF9B p.Arg2Trp Uncertain significance Single submitter
- C1QTNF9B p.Arg42Ile Uncertain significance Single submitter
- C1QTNF9B p.Arg45Gln Uncertain significance Single submitter
- C1QTNF9B p.Asn312Ser Uncertain significance Single submitter
- C1QTNF9B p.Asp320His Uncertain significance Single submitter
- C1QTNF9B p.Gln294Leu Uncertain significance Single submitter
- C1QTNF9B p.Gln304Lys Uncertain significance Single submitter
- C1QTNF9B p.Glu230Lys Uncertain significance Single submitter
- C1QTNF9B p.Gly146Ser Uncertain significance Single submitter
- C1QTNF9B p.Gly26Arg Uncertain significance Single submitter
- C1QTNF9B p.Gly298Arg Uncertain significance Single submitter
- C1QTNF9B p.Gly29Ala Uncertain significance Single submitter
- C1QTNF9B p.Gly35Ser Likely benign Single submitter
- C1QTNF9B p.His233Arg Uncertain significance Single submitter
- C1QTNF9B p.His244Tyr Uncertain significance Single submitter
- C1QTNF9B p.Ile10Thr Uncertain significance Single submitter
- C1QTNF9B p.Ile291Ser Uncertain significance Single submitter
- C1QTNF9B p.Leu266Val Uncertain significance Single submitter
- C1QTNF9B p.Lys52Gln Uncertain significance Single submitter
- C1QTNF9B p.Pro108Thr Uncertain significance Single submitter
- C1QTNF9B p.Pro147Ala Uncertain significance Single submitter
- C1QTNF9B p.Pro160Arg Uncertain significance Single submitter
- C1QTNF9B p.Pro171Thr Uncertain significance Single submitter
- C1QTNF9B p.Pro28Arg Uncertain significance Single submitter
- C1QTNF9B p.Pro97Leu Uncertain significance Single submitter
- C1QTNF9B p.Trp302Gly Uncertain significance Single submitter
- C1QTNF9B p.Val281Met Likely benign Single submitter
All C1QTNF9B variants
Benign 3
- p.Arg277Lys Multiple submitters
- p.Asp319= Multiple submitters
- p.Cys243Ser Multiple submitters
Likely benign 5
- p.Gly35Ser Single submitter ⚠
- p.Gly68= Single submitter
- p.Ile12Val Single submitter
- p.Ser290Gly Single submitter
- p.Val281Met Single submitter ⚠
Uncertain significance 60
- p.Ala106Ser Single submitter ⚠
- p.Ala287Asp Single submitter ⚠
- p.Ala48Glu Single submitter ⚠
- p.Ala48Val Single submitter ⚠
- p.Arg115Gly Single submitter ⚠
- p.Arg178Gln Single submitter ⚠
- p.Arg178Trp Single submitter ⚠
- p.Arg187Gly Single submitter ⚠
- p.Arg2Trp Single submitter ⚠
- p.Arg310Lys Single submitter ⚠
- p.Arg42Ile Single submitter ⚠
- p.Arg45Gln Single submitter ⚠
- p.Asn312Ser Single submitter ⚠
- p.Asn37Ser Single submitter ⚠
- p.Asp21Gly Single submitter ⚠
- p.Asp319Glu Single submitter ⚠
- p.Asp320Asn Single submitter ⚠
- p.Asp320His Single submitter ⚠
- p.Cys60Tyr Single submitter ⚠
- p.Gln294Leu Single submitter ⚠
- p.Gln304Lys Single submitter ⚠
- p.Glu230Lys Single submitter ⚠
- p.Glu57Lys Single submitter ⚠
- p.Gly116Glu Single submitter ⚠
- p.Gly146Ser Single submitter ⚠
- p.Gly164Arg Single submitter ⚠
- p.Gly26Arg Single submitter ⚠
- p.Gly298Arg Single submitter ⚠
- p.Gly29Ala Single submitter ⚠
- p.Gly32Arg Single submitter ⚠
- p.Gly35Asp Single submitter ⚠
- p.Gly38Val Single submitter ⚠
- p.Gly47Arg Single submitter ⚠
- p.Gly53Asp Single submitter ⚠
- p.His233Arg Single submitter ⚠
- p.His244Tyr Single submitter ⚠
- p.His27Gln Single submitter ⚠
- p.Ile10Thr Single submitter ⚠
- p.Ile142Met Single submitter ⚠
- p.Ile291Ser Single submitter ⚠
- p.Leu197Val Single submitter ⚠
- p.Leu266Val Single submitter ⚠
- p.Leu303Pro Single submitter ⚠
- p.Leu314Ser Single submitter ⚠
- p.Lys52Gln Single submitter ⚠
- p.Phe214Tyr Single submitter ⚠
- p.Phe327Leu Single submitter ⚠
- p.Pro108Thr Single submitter ⚠
- p.Pro147Ala Single submitter ⚠
- p.Pro160Arg Single submitter ⚠
- p.Pro171Thr Single submitter ⚠
- p.Pro28Arg Single submitter ⚠
- p.Pro97Leu Single submitter ⚠
- p.Thr148Ala Single submitter ⚠
- p.Thr196Pro Single submitter ⚠
- p.Thr205Ser Single submitter ⚠
- p.Trp302Gly Single submitter ⚠
- p.Tyr249Cys Single submitter ⚠
- p.Val264Glu Single submitter ⚠
- p.Val82Ile Single submitter ⚠