CCDC126 — 28 ClinVar variants
All ClinVar germline CCDC126 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 25 flagged for review →
28 Uncertain significance
Full CCDC126 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 25
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 20
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CCDC126 p.Ala114Asp Uncertain significance Single submitter
- CCDC126 p.Ala61Thr Uncertain significance Single submitter
- CCDC126 p.Arg55Gly Uncertain significance Single submitter
- CCDC126 p.Asn118Ser Uncertain significance Single submitter
- CCDC126 p.Asn130Thr Uncertain significance Single submitter
- CCDC126 p.Asp69Val Uncertain significance Single submitter
- CCDC126 p.Glu101Asp Uncertain significance Single submitter
- CCDC126 p.Gly119Asp Uncertain significance Single submitter
- CCDC126 p.Gly137Ser Uncertain significance Single submitter
- CCDC126 p.Gly73Ser Uncertain significance Single submitter
- CCDC126 p.His31Tyr Uncertain significance Single submitter
- CCDC126 p.His39Arg Uncertain significance Single submitter
- CCDC126 p.Met10Lys Uncertain significance Single submitter
- CCDC126 p.Thr117Ser Uncertain significance Single submitter
- CCDC126 p.Thr133Met Uncertain significance Single submitter
- CCDC126 p.Val109Leu Uncertain significance Single submitter
- CCDC126 p.Val135Leu Uncertain significance Single submitter
- CCDC126 p.Val20Ile Uncertain significance Single submitter
- CCDC126 p.Val20Leu Uncertain significance Single submitter
- CCDC126 p.Val98Ala Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All CCDC126 variants
Uncertain significance 28
- p.Ala114Asp Single submitter ⚠
- p.Ala61Thr Single submitter ⚠
- p.Ala80Val Single submitter ⚠
- p.Arg46His Single submitter ⚠
- p.Arg46Pro Single submitter ⚠
- p.Arg55Gly Single submitter ⚠
- p.Asn110Tyr Single submitter
- p.Asn118Ser Single submitter ⚠
- p.Asn130Thr Single submitter ⚠
- p.Asp69Val Single submitter ⚠
- p.Glu101Asp Single submitter ⚠
- p.Gly119Asp Single submitter ⚠
- p.Gly137Ser Single submitter ⚠
- p.Gly73Cys Single submitter
- p.Gly73Ser Single submitter ⚠
- p.Gly78Ala Single submitter
- p.His31Tyr Single submitter ⚠
- p.His39Arg Single submitter ⚠
- p.Lys103Glu Single submitter ⚠
- p.Met10Lys Single submitter ⚠
- p.Thr117Ser Single submitter ⚠
- p.Thr133Met Single submitter ⚠
- p.Val109Leu Single submitter ⚠
- p.Val135Leu Single submitter ⚠
- p.Val20Ile Single submitter ⚠
- p.Val20Leu Single submitter ⚠
- p.Val57Ala Single submitter ⚠
- p.Val98Ala Single submitter ⚠