CCDC12 — 29 ClinVar variants
All ClinVar germline CCDC12 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 24 flagged for review →
1 Likely benign · 28 Uncertain significance
Full CCDC12 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 24
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 9
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CCDC12 p.Arg26Pro Uncertain significance Single submitter
- CCDC12 p.Arg26Trp Uncertain significance Single submitter
- CCDC12 p.Asp119Glu Uncertain significance Single submitter
- CCDC12 p.Cys163Arg Uncertain significance Single submitter
- CCDC12 p.Glu159Gln Uncertain significance Single submitter
- CCDC12 p.Glu50Asp Uncertain significance Single submitter
- CCDC12 p.Glu56Gln Uncertain significance Single submitter
- CCDC12 p.Lys23Arg Uncertain significance Single submitter
- CCDC12 p.Thr5Lys Uncertain significance Single submitter
Predictors split 15
The independent predictors disagree with each other — read with care.
- CCDC12 p.Ala134Ser Uncertain significance Single submitter
- CCDC12 p.Ala151Pro Uncertain significance Single submitter
- CCDC12 p.Ala3Val Uncertain significance Single submitter
- CCDC12 p.Ala93Ser Uncertain significance Single submitter
- CCDC12 p.Arg130Gln Uncertain significance Single submitter
- CCDC12 p.Glu12Asp Uncertain significance Single submitter
- CCDC12 p.Glu12Gln Uncertain significance Single submitter
- CCDC12 p.Glu2Gln Uncertain significance Single submitter
- CCDC12 p.Glu50Gly Uncertain significance Single submitter
- CCDC12 p.Glu96Lys Uncertain significance Single submitter
- CCDC12 p.Ile99Met Uncertain significance Single submitter
- CCDC12 p.Pro95Ser Uncertain significance Single submitter
- CCDC12 p.Ser152Cys Uncertain significance Single submitter
- CCDC12 p.Val154Leu Uncertain significance Single submitter
- CCDC12 p.Val8Met Uncertain significance Single submitter
All CCDC12 variants
Likely benign 1
- p.Thr4Ala Single submitter
Uncertain significance 28
- c.-3A>G Single submitter
- p.Ala134Ser Single submitter ⚠
- p.Ala151Pro Single submitter ⚠
- p.Ala3Val Single submitter ⚠
- p.Ala93Ser Single submitter ⚠
- p.Arg130Gln Single submitter ⚠
- p.Arg26Pro Single submitter ⚠
- p.Arg26Trp Single submitter ⚠
- p.Asp119Glu Single submitter ⚠
- p.Cys163Arg Single submitter ⚠
- p.Glu12Asp Single submitter ⚠
- p.Glu12Gln Single submitter ⚠
- p.Glu159Gln Single submitter ⚠
- p.Glu2Gln Single submitter ⚠
- p.Glu50Asp Single submitter ⚠
- p.Glu50Gly Single submitter ⚠
- p.Glu56Gln Single submitter ⚠
- p.Glu96Lys Single submitter ⚠
- p.Gly7Arg Single submitter
- p.Ile99Met Single submitter ⚠
- p.Lys23Arg Single submitter ⚠
- p.Met1Leu Single submitter
- p.Met1Thr Single submitter
- p.Pro95Ser Single submitter ⚠
- p.Ser152Cys Single submitter ⚠
- p.Thr5Lys Single submitter ⚠
- p.Val154Leu Single submitter ⚠
- p.Val8Met Single submitter ⚠