CCN1 — 58 ClinVar variants
All ClinVar germline CCN1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 53 flagged for review →
4 Benign · 2 Likely benign · 52 Uncertain significance
Full CCN1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 53
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.
- CCN1 p.Ala365Val Uncertain significance Single submitter
- CCN1 p.Ala36Val Uncertain significance Single submitter
- CCN1 p.Arg20Thr Uncertain significance Single submitter
- CCN1 p.Arg259His Uncertain significance Single submitter
- CCN1 p.Arg321Leu Uncertain significance Single submitter
- CCN1 p.Arg47Pro Uncertain significance Single submitter
- CCN1 p.Asn253Asp Uncertain significance Single submitter
- CCN1 p.Asp174Asn Uncertain significance Single submitter
- CCN1 p.Cys163Tyr Uncertain significance Single submitter
- CCN1 p.Cys26Gly Uncertain significance Single submitter
- CCN1 p.Cys53Arg Uncertain significance Single submitter
- CCN1 p.Cys56Gly Uncertain significance Single submitter
- CCN1 p.Glu165Gly Uncertain significance Single submitter
- CCN1 p.Glu173Gln Uncertain significance Single submitter
- CCN1 p.Glu341Lys Uncertain significance Single submitter
- CCN1 p.Gly177Ser Uncertain significance Single submitter
- CCN1 p.Gly51Ser Uncertain significance Single submitter
- CCN1 p.Ile5Leu Uncertain significance Single submitter
- CCN1 p.Leu210Pro Uncertain significance Single submitter
- CCN1 p.Leu220Val Uncertain significance Single submitter
- CCN1 p.Leu224Val Uncertain significance Single submitter
- CCN1 p.Lys169Thr Uncertain significance Single submitter
- CCN1 p.Lys378Arg Uncertain significance Single submitter
- CCN1 p.Pro311Arg Uncertain significance Single submitter
- CCN1 p.Ser316Ala Uncertain significance Single submitter
- CCN1 p.Thr14Ile Uncertain significance Single submitter
- CCN1 p.Thr249Ile Uncertain significance Single submitter
- CCN1 p.Thr252Ala Uncertain significance Single submitter
- CCN1 p.Tyr221His Uncertain significance Single submitter
- CCN1 p.Tyr277His Uncertain significance Single submitter
- CCN1 p.Val190Met Uncertain significance Single submitter
- CCN1 p.Val55Phe Uncertain significance Single submitter
Predictors split 21
The independent predictors disagree with each other — read with care.
- CCN1 p.Ser316Cys Likely benign Multiple submitters
- CCN1 p.Ala6Ser Uncertain significance Single submitter
- CCN1 p.Arg297Ser Uncertain significance Single submitter
- CCN1 p.Asn363Lys Uncertain significance Single submitter
- CCN1 p.Asn363Thr Uncertain significance Single submitter
- CCN1 p.Asp254His Uncertain significance Single submitter
- CCN1 p.Asp339His Uncertain significance Single submitter
- CCN1 p.Glu160Asp Uncertain significance Single submitter
- CCN1 p.Glu35Gly Uncertain significance Single submitter
- CCN1 p.Gly315Asp Uncertain significance Single submitter
- CCN1 p.Gly44Trp Uncertain significance Single submitter
- CCN1 p.His17Tyr Uncertain significance Single submitter
- CCN1 p.Leu372Met Uncertain significance Single submitter
- CCN1 p.Pro293Leu Uncertain significance Single submitter
- CCN1 p.Pro33Arg Uncertain significance Single submitter
- CCN1 p.Ser65Gly Uncertain significance Single submitter
- CCN1 p.Thr154Ile Uncertain significance Single submitter
- CCN1 p.Thr249Ser Uncertain significance Single submitter
- CCN1 p.Thr264Asn Uncertain significance Single submitter
- CCN1 p.Tyr277Cys Uncertain significance Single submitter
- CCN1 p.Val46Ala Uncertain significance Single submitter
All CCN1 variants
Benign 4
- c.277+50G>C Multiple submitters
- c.64-124G>A Multiple submitters
- c.-107C>A Multiple submitters
- p.Tyr300= Multiple submitters
Likely benign 2
- p.Ser316Cys Multiple submitters ⚠
- p.Ala366= Single submitter
Uncertain significance 52
- p.Ala365Val Single submitter ⚠
- p.Ala36Val Single submitter ⚠
- p.Ala6Ser Single submitter ⚠
- p.Arg20Thr Single submitter ⚠
- p.Arg259His Single submitter ⚠
- p.Arg297Ser Single submitter ⚠
- p.Arg321Leu Single submitter ⚠
- p.Arg47Pro Single submitter ⚠
- p.Asn253Asp Single submitter ⚠
- p.Asn363Lys Single submitter ⚠
- p.Asn363Thr Single submitter ⚠
- p.Asp174Asn Single submitter ⚠
- p.Asp254His Single submitter ⚠
- p.Asp339His Single submitter ⚠
- p.Cys163Tyr Single submitter ⚠
- p.Cys26Gly Single submitter ⚠
- p.Cys53Arg Single submitter ⚠
- p.Cys56Gly Single submitter ⚠
- p.Glu160Asp Single submitter ⚠
- p.Glu165Gly Single submitter ⚠
- p.Glu173Gln Single submitter ⚠
- p.Glu341Lys Single submitter ⚠
- p.Glu35Gly Single submitter ⚠
- p.Gly177Ser Single submitter ⚠
- p.Gly315Asp Single submitter ⚠
- p.Gly44Trp Single submitter ⚠
- p.Gly51Ser Single submitter ⚠
- p.His17Tyr Single submitter ⚠
- p.Ile5Leu Single submitter ⚠
- p.Leu210Pro Single submitter ⚠
- p.Leu220Val Single submitter ⚠
- p.Leu224Val Single submitter ⚠
- p.Leu372Met Single submitter ⚠
- p.Lys169Thr Single submitter ⚠
- p.Lys378Arg Single submitter ⚠
- p.Pro293Leu Single submitter ⚠
- p.Pro311Arg Single submitter ⚠
- p.Pro33Arg Single submitter ⚠
- p.Ser316Ala Single submitter ⚠
- p.Ser65Gly Single submitter ⚠
- p.Thr14Ile Single submitter ⚠
- p.Thr154Ile Single submitter ⚠
- p.Thr249Ile Single submitter ⚠
- p.Thr249Ser Single submitter ⚠
- p.Thr252Ala Single submitter ⚠
- p.Thr264Asn Single submitter ⚠
- p.Tyr221His Single submitter ⚠
- p.Tyr277Cys Single submitter ⚠
- p.Tyr277His Single submitter ⚠
- p.Val190Met Single submitter ⚠
- p.Val46Ala Single submitter ⚠
- p.Val55Phe Single submitter ⚠