CCN3 — 45 ClinVar variants
All ClinVar germline CCN3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 42 flagged for review →
1 Conflicting · 1 Benign · 3 Likely benign · 40 Uncertain significance
Full CCN3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 42
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, 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.
- CCN3 p.Ala157Asp Uncertain significance Single submitter
- CCN3 p.Ala187Ser Uncertain significance Single submitter
- CCN3 p.Arg227Trp Uncertain significance Single submitter
- CCN3 p.Asn336Ser Uncertain significance Single submitter
- CCN3 p.Asp113Glu Uncertain significance Single submitter
- CCN3 p.Asp59His Uncertain significance Single submitter
- CCN3 p.Cys144Ser Uncertain significance Single submitter
- CCN3 p.Cys167Ser Uncertain significance Single submitter
- CCN3 p.Cys61Phe Uncertain significance Single submitter
- CCN3 p.Gln2Arg Uncertain significance Single submitter
- CCN3 p.Gln2Lys Uncertain significance Single submitter
- CCN3 p.Gly223Arg Uncertain significance Single submitter
- CCN3 p.Gly27Arg Uncertain significance Single submitter
- CCN3 p.Ile101Val Uncertain significance Single submitter
- CCN3 p.Leu181Val Uncertain significance Single submitter
- CCN3 p.Leu195Arg Uncertain significance Single submitter
- CCN3 p.Phe291Tyr Uncertain significance Single submitter
- CCN3 p.Pro303Arg Uncertain significance Single submitter
- CCN3 p.Pro40Ser Uncertain significance Single submitter
- CCN3 p.Ser62Leu Uncertain significance Single submitter
- CCN3 p.Ser6Gly Uncertain significance Single submitter
- CCN3 p.Ser85Asn Uncertain significance Single submitter
- CCN3 p.Ser85Gly Uncertain significance Single submitter
- CCN3 p.Thr335Ser Uncertain significance Single submitter
- CCN3 p.Thr7Lys Uncertain significance Single submitter
- CCN3 p.Val111Glu Uncertain significance Single submitter
- CCN3 p.Val197Glu Uncertain significance Single submitter
Predictors split 14
The independent predictors disagree with each other — read with care.
- CCN3 p.Ala51Ser Uncertain significance Single submitter
- CCN3 p.Arg143His Uncertain significance Single submitter
- CCN3 p.Arg233Cys Uncertain significance Single submitter
- CCN3 p.Arg299His Uncertain significance Single submitter
- CCN3 p.Arg34Pro Uncertain significance Single submitter
- CCN3 p.Arg69His Uncertain significance Single submitter
- CCN3 p.Asp82Asn Uncertain significance Single submitter
- CCN3 p.Glu121Gln Uncertain significance Single submitter
- CCN3 p.Gly318Glu Uncertain significance Single submitter
- CCN3 p.Leu149Val Uncertain significance Single submitter
- CCN3 p.Leu284Met Uncertain significance Single submitter
- CCN3 p.Pro47Ser Uncertain significance Single submitter
- CCN3 p.Ser126Thr Uncertain significance Single submitter
- CCN3 p.Thr132Ala Likely benign Single submitter
All CCN3 variants
Conflicting classifications of pathogenicity 1
- p.Asn97Lys Single submitter ⚠
Benign 1
- p.Cys15Phe Multiple submitters
Likely benign 3
- p.Thr132Ala Single submitter ⚠
- p.Thr7Met Single submitter
- p.Ser202Ter No assertion criteria long QT syndrome
Uncertain significance 40
- p.Ala157Asp Single submitter ⚠
- p.Ala187Ser Single submitter ⚠
- p.Ala51Ser Single submitter ⚠
- p.Arg143His Single submitter ⚠
- p.Arg227Trp Single submitter ⚠
- p.Arg233Cys Single submitter ⚠
- p.Arg299His Single submitter ⚠
- p.Arg34Pro Single submitter ⚠
- p.Arg69His Single submitter ⚠
- p.Asn336Ser Single submitter ⚠
- p.Asp113Glu Single submitter ⚠
- p.Asp59His Single submitter ⚠
- p.Asp82Asn Single submitter ⚠
- p.Cys144Ser Single submitter ⚠
- p.Cys167Ser Single submitter ⚠
- p.Cys61Phe Single submitter ⚠
- p.Gln2Arg Single submitter ⚠
- p.Gln2Lys Single submitter ⚠
- p.Glu121Gln Single submitter ⚠
- p.Gly223Arg Single submitter ⚠
- p.Gly27Arg Single submitter ⚠
- p.Gly318Glu Single submitter ⚠
- p.Ile101Val Single submitter ⚠
- p.Leu149Val Single submitter ⚠
- p.Leu181Val Single submitter ⚠
- p.Leu195Arg Single submitter ⚠
- p.Leu284Met Single submitter ⚠
- p.Phe291Tyr Single submitter ⚠
- p.Pro303Arg Single submitter ⚠
- p.Pro40Ser Single submitter ⚠
- p.Pro47Ser Single submitter ⚠
- p.Ser126Thr Single submitter ⚠
- p.Ser62Leu Single submitter ⚠
- p.Ser6Gly Single submitter ⚠
- p.Ser85Asn Single submitter ⚠
- p.Ser85Gly Single submitter ⚠
- p.Thr335Ser Single submitter ⚠
- p.Thr7Lys Single submitter ⚠
- p.Val111Glu Single submitter ⚠
- p.Val197Glu Single submitter ⚠