CCDC42 — 48 ClinVar variants
All ClinVar germline CCDC42 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 46 flagged for review →
3 Likely benign · 45 Uncertain significance
Full CCDC42 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 46
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 24
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CCDC42 p.Ala134Thr Uncertain significance Single submitter
- CCDC42 p.Ala199Ser Uncertain significance Single submitter
- CCDC42 p.Arg136Gln Uncertain significance Single submitter
- CCDC42 p.Arg16Pro Uncertain significance Single submitter
- CCDC42 p.Arg202Gln Uncertain significance Single submitter
- CCDC42 p.Arg299Gln Uncertain significance Single submitter
- CCDC42 p.Arg315Gln Uncertain significance Single submitter
- CCDC42 p.Arg67Gly Uncertain significance Single submitter
- CCDC42 p.Asn112Lys Uncertain significance Single submitter
- CCDC42 p.Asp101Asn Uncertain significance Single submitter
- CCDC42 p.Asp212Gly Uncertain significance Single submitter
- CCDC42 p.Glu166Lys Uncertain significance Single submitter
- CCDC42 p.Glu305Lys Uncertain significance Single submitter
- CCDC42 p.Glu7Gly Uncertain significance Single submitter
- CCDC42 p.Gly80Val Uncertain significance Single submitter
- CCDC42 p.Ile105Thr Uncertain significance Single submitter
- CCDC42 p.Ile259Val Uncertain significance Single submitter
- CCDC42 p.Leu72Pro Uncertain significance Single submitter
- CCDC42 p.Lys129Glu Uncertain significance Single submitter
- CCDC42 p.Met122Val Uncertain significance Single submitter
- CCDC42 p.Met207Thr Uncertain significance Single submitter
- CCDC42 p.Met261Arg Uncertain significance Single submitter
- CCDC42 p.Ser233Asn Uncertain significance Single submitter
- CCDC42 p.Trp303Ser Uncertain significance Single submitter
Predictors split 22
The independent predictors disagree with each other — read with care.
- CCDC42 p.Ala107Thr Uncertain significance Single submitter
- CCDC42 p.Ala111Asp Uncertain significance Single submitter
- CCDC42 p.Ala262Thr Uncertain significance Single submitter
- CCDC42 p.Arg104Gln Uncertain significance Single submitter
- CCDC42 p.Arg182His Likely benign Single submitter
- CCDC42 p.Arg198His Uncertain significance Single submitter
- CCDC42 p.Arg205Cys Uncertain significance Single submitter
- CCDC42 p.Arg22Trp Uncertain significance Single submitter
- CCDC42 p.Arg230Cys Uncertain significance Single submitter
- CCDC42 p.Arg232Cys Uncertain significance Single submitter
- CCDC42 p.Gln268His Uncertain significance Single submitter
- CCDC42 p.Glu157Gly Uncertain significance Single submitter
- CCDC42 p.Glu164Gly Uncertain significance Single submitter
- CCDC42 p.Glu78Gln Uncertain significance Single submitter
- CCDC42 p.Glu78Lys Uncertain significance Single submitter
- CCDC42 p.Gly80Asp Uncertain significance Single submitter
- CCDC42 p.Leu137Pro Uncertain significance Single submitter
- CCDC42 p.Lys260Glu Uncertain significance Single submitter
- CCDC42 p.Ser300Trp Uncertain significance Single submitter
- CCDC42 p.Thr263Met Uncertain significance Single submitter
- CCDC42 p.Thr71Ile Uncertain significance Single submitter
- CCDC42 p.Tyr206Cys Uncertain significance Single submitter
All CCDC42 variants
Likely benign 3
- p.Arg182His Single submitter ⚠
- p.Arg230His Single submitter
- p.Val81Ile Single submitter
Uncertain significance 45
- p.Ala107Thr Single submitter ⚠
- p.Ala111Asp Single submitter ⚠
- p.Ala134Thr Single submitter ⚠
- p.Ala199Ser Single submitter ⚠
- p.Ala262Thr Single submitter ⚠
- p.Arg104Gln Single submitter ⚠
- p.Arg136Gln Single submitter ⚠
- p.Arg16Pro Single submitter ⚠
- p.Arg198His Single submitter ⚠
- p.Arg202Gln Single submitter ⚠
- p.Arg205Cys Single submitter ⚠
- p.Arg22Trp Single submitter ⚠
- p.Arg230Cys Single submitter ⚠
- p.Arg232Cys Single submitter ⚠
- p.Arg299Gln Single submitter ⚠
- p.Arg315Gln Single submitter ⚠
- p.Arg67Gly Single submitter ⚠
- p.Asn112Lys Single submitter ⚠
- p.Asp101Asn Single submitter ⚠
- p.Asp212Gly Single submitter ⚠
- p.Gln268His Single submitter ⚠
- p.Glu157Gly Single submitter ⚠
- p.Glu164Gly Single submitter ⚠
- p.Glu166Lys Single submitter ⚠
- p.Glu305Lys Single submitter ⚠
- p.Glu78Gln Single submitter ⚠
- p.Glu78Lys Single submitter ⚠
- p.Glu7Gly Single submitter ⚠
- p.Gly80Asp Single submitter ⚠
- p.Gly80Val Single submitter ⚠
- p.Ile105Thr Single submitter ⚠
- p.Ile259Val Single submitter ⚠
- p.Leu137Pro Single submitter ⚠
- p.Leu72Pro Single submitter ⚠
- p.Lys129Glu Single submitter ⚠
- p.Lys260Glu Single submitter ⚠
- p.Met122Val Single submitter ⚠
- p.Met207Thr Single submitter ⚠
- p.Met261Arg Single submitter ⚠
- p.Ser233Asn Single submitter ⚠
- p.Ser300Trp Single submitter ⚠
- p.Thr263Met Single submitter ⚠
- p.Thr71Ile Single submitter ⚠
- p.Trp303Ser Single submitter ⚠
- p.Tyr206Cys Single submitter ⚠