CCDC152 — 25 ClinVar variants
All ClinVar germline CCDC152 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 24 flagged for review →
1 Likely benign · 24 Uncertain significance
Full CCDC152 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 15
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CCDC152 p.Ala116Asp Uncertain significance Single submitter
- CCDC152 p.Ala228Glu Uncertain significance Single submitter
- CCDC152 p.Arg231His Uncertain significance Single submitter
- CCDC152 p.Cys66Ser Uncertain significance Single submitter
- CCDC152 p.Cys8Tyr Uncertain significance Single submitter
- CCDC152 p.Gln26Lys Uncertain significance Single submitter
- CCDC152 p.Gly88Asp Uncertain significance Single submitter
- CCDC152 p.Ile234Val Uncertain significance Single submitter
- CCDC152 p.Leu93Pro Uncertain significance Single submitter
- CCDC152 p.Lys143Asn Uncertain significance Single submitter
- CCDC152 p.Ser134Asn Uncertain significance Single submitter
- CCDC152 p.Thr34Ala Uncertain significance Single submitter
- CCDC152 p.Thr79Ser Uncertain significance Single submitter
- CCDC152 p.Val15Met Uncertain significance Single submitter
- CCDC152 p.Val206Ile Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- CCDC152 p.Ala192Pro Uncertain significance Single submitter
- CCDC152 p.Arg253Trp Uncertain significance Single submitter
- CCDC152 p.Glu186Lys Uncertain significance Single submitter
- CCDC152 p.Ile133Arg Uncertain significance Single submitter
- CCDC152 p.Ile227Thr Uncertain significance Single submitter
- CCDC152 p.Lys250Glu Uncertain significance Single submitter
- CCDC152 p.Phe254Leu Uncertain significance Single submitter
- CCDC152 p.Ser61Phe Uncertain significance Single submitter
- CCDC152 p.Ser96Arg Uncertain significance Single submitter
All CCDC152 variants
Likely benign 1
- p.Asn35Ser Single submitter
Uncertain significance 24
- p.Ala116Asp Single submitter ⚠
- p.Ala192Pro Single submitter ⚠
- p.Ala228Glu Single submitter ⚠
- p.Arg231His Single submitter ⚠
- p.Arg253Trp Single submitter ⚠
- p.Cys66Ser Single submitter ⚠
- p.Cys8Tyr Single submitter ⚠
- p.Gln26Lys Single submitter ⚠
- p.Glu186Lys Single submitter ⚠
- p.Gly88Asp Single submitter ⚠
- p.Ile133Arg Single submitter ⚠
- p.Ile227Thr Single submitter ⚠
- p.Ile234Val Single submitter ⚠
- p.Leu93Pro Single submitter ⚠
- p.Lys143Asn Single submitter ⚠
- p.Lys250Glu Single submitter ⚠
- p.Phe254Leu Single submitter ⚠
- p.Ser134Asn Single submitter ⚠
- p.Ser61Phe Single submitter ⚠
- p.Ser96Arg Single submitter ⚠
- p.Thr34Ala Single submitter ⚠
- p.Thr79Ser Single submitter ⚠
- p.Val15Met Single submitter ⚠
- p.Val206Ile Single submitter ⚠