CCDC125 — 58 ClinVar variants
All ClinVar germline CCDC125 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 55 flagged for review →
3 Likely benign · 55 Uncertain significance
Full CCDC125 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 55
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 41
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CCDC125 p.Ala431Thr Uncertain significance Single submitter
- CCDC125 p.Ala72Val Uncertain significance Single submitter
- CCDC125 p.Arg336Lys Uncertain significance Single submitter
- CCDC125 p.Arg430Gln Uncertain significance Single submitter
- CCDC125 p.Arg459Leu Uncertain significance Single submitter
- CCDC125 p.Arg49Thr Uncertain significance Single submitter
- CCDC125 p.Arg6Gly Uncertain significance Single submitter
- CCDC125 p.Arg96Gly Uncertain significance Single submitter
- CCDC125 p.Arg97Gln Uncertain significance Single submitter
- CCDC125 p.Asn110Ser Uncertain significance Single submitter
- CCDC125 p.Asp189Glu Uncertain significance Single submitter
- CCDC125 p.Cys279Tyr Uncertain significance Single submitter
- CCDC125 p.Gln340Glu Uncertain significance Single submitter
- CCDC125 p.Gln88Arg Uncertain significance Single submitter
- CCDC125 p.Glu142Asp Uncertain significance Single submitter
- CCDC125 p.Gly378Arg Uncertain significance Single submitter
- CCDC125 p.Gly38Arg Uncertain significance Single submitter
- CCDC125 p.Gly54Glu Uncertain significance Single submitter
- CCDC125 p.His351Leu Uncertain significance Single submitter
- CCDC125 p.His46Leu Uncertain significance Single submitter
- CCDC125 p.Ile408Thr Uncertain significance Single submitter
- CCDC125 p.Leu334Phe Uncertain significance Single submitter
- CCDC125 p.Leu344Ser Uncertain significance Single submitter
- CCDC125 p.Leu467Val Uncertain significance Single submitter
- CCDC125 p.Lys262Glu Uncertain significance Single submitter
- CCDC125 p.Lys361Asn Uncertain significance Single submitter
- CCDC125 p.Met294Val Uncertain significance Single submitter
- CCDC125 p.Met427Val Uncertain significance Single submitter
- CCDC125 p.Pro36Leu Uncertain significance Single submitter
- CCDC125 p.Pro59Arg Uncertain significance Single submitter
- CCDC125 p.Pro61Leu Uncertain significance Single submitter
- CCDC125 p.Pro87Ser Uncertain significance Single submitter
- CCDC125 p.Ser425Thr Uncertain significance Single submitter
- CCDC125 p.Ser474Arg Uncertain significance Single submitter
- CCDC125 p.Ser474Gly Uncertain significance Single submitter
- CCDC125 p.Ser508Ile Uncertain significance Single submitter
- CCDC125 p.Ser81Asn Uncertain significance Single submitter
- CCDC125 p.Thr161Met Uncertain significance Single submitter
- CCDC125 p.Tyr496Cys Uncertain significance Single submitter
- CCDC125 p.Val164Met Uncertain significance Single submitter
- CCDC125 p.Val89Met Uncertain significance Single submitter
Predictors split 14
The independent predictors disagree with each other — read with care.
- CCDC125 p.Ala244Thr Uncertain significance Single submitter
- CCDC125 p.Ala274Val Uncertain significance Single submitter
- CCDC125 p.Ala295Val Uncertain significance Single submitter
- CCDC125 p.Arg459Cys Uncertain significance Single submitter
- CCDC125 p.Glu122Val Uncertain significance Single submitter
- CCDC125 p.Glu272Gln Uncertain significance Single submitter
- CCDC125 p.Gly26Asp Uncertain significance Single submitter
- CCDC125 p.His190Pro Uncertain significance Single submitter
- CCDC125 p.Leu165Ile Uncertain significance Single submitter
- CCDC125 p.Lys300Asn Uncertain significance Single submitter
- CCDC125 p.Ser134Pro Uncertain significance Single submitter
- CCDC125 p.Ser290Pro Uncertain significance Single submitter
- CCDC125 p.Ser48Phe Uncertain significance Single submitter
- CCDC125 p.Ser9Thr Uncertain significance Single submitter
All CCDC125 variants
Likely benign 3
- p.Asn172Lys Single submitter
- p.Gly285Arg Single submitter
- p.Met169Val Single submitter
Uncertain significance 55
- p.Ala244Thr Single submitter ⚠
- p.Ala274Val Single submitter ⚠
- p.Ala295Val Single submitter ⚠
- p.Ala431Thr Single submitter ⚠
- p.Ala72Val Single submitter ⚠
- p.Arg336Lys Single submitter ⚠
- p.Arg430Gln Single submitter ⚠
- p.Arg459Cys Single submitter ⚠
- p.Arg459Leu Single submitter ⚠
- p.Arg49Thr Single submitter ⚠
- p.Arg6Gly Single submitter ⚠
- p.Arg96Gly Single submitter ⚠
- p.Arg97Gln Single submitter ⚠
- p.Asn110Ser Single submitter ⚠
- p.Asp189Glu Single submitter ⚠
- p.Cys279Tyr Single submitter ⚠
- p.Gln340Glu Single submitter ⚠
- p.Gln88Arg Single submitter ⚠
- p.Glu122Val Single submitter ⚠
- p.Glu142Asp Single submitter ⚠
- p.Glu272Gln Single submitter ⚠
- p.Gly26Asp Single submitter ⚠
- p.Gly378Arg Single submitter ⚠
- p.Gly38Arg Single submitter ⚠
- p.Gly54Glu Single submitter ⚠
- p.His190Pro Single submitter ⚠
- p.His351Leu Single submitter ⚠
- p.His46Leu Single submitter ⚠
- p.Ile408Thr Single submitter ⚠
- p.Leu165Ile Single submitter ⚠
- p.Leu334Phe Single submitter ⚠
- p.Leu344Ser Single submitter ⚠
- p.Leu467Val Single submitter ⚠
- p.Lys262Glu Single submitter ⚠
- p.Lys300Asn Single submitter ⚠
- p.Lys361Asn Single submitter ⚠
- p.Met294Val Single submitter ⚠
- p.Met427Val Single submitter ⚠
- p.Pro36Leu Single submitter ⚠
- p.Pro59Arg Single submitter ⚠
- p.Pro61Leu Single submitter ⚠
- p.Pro87Ser Single submitter ⚠
- p.Ser134Pro Single submitter ⚠
- p.Ser290Pro Single submitter ⚠
- p.Ser425Thr Single submitter ⚠
- p.Ser474Arg Single submitter ⚠
- p.Ser474Gly Single submitter ⚠
- p.Ser48Phe Single submitter ⚠
- p.Ser508Ile Single submitter ⚠
- p.Ser81Asn Single submitter ⚠
- p.Ser9Thr Single submitter ⚠
- p.Thr161Met Single submitter ⚠
- p.Tyr496Cys Single submitter ⚠
- p.Val164Met Single submitter ⚠
- p.Val89Met Single submitter ⚠