CCDC71 — 84 ClinVar variants
All ClinVar germline CCDC71 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 77 flagged for review →
9 Likely benign · 75 Uncertain significance
Full CCDC71 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 77
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 44
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CCDC71 p.Ala106Pro Uncertain significance Single submitter
- CCDC71 p.Ala126Thr Uncertain significance Single submitter
- CCDC71 p.Ala128Val Uncertain significance Single submitter
- CCDC71 p.Ala132Ser Uncertain significance Single submitter
- CCDC71 p.Ala181Gly Uncertain significance Single submitter
- CCDC71 p.Ala246Pro Uncertain significance Single submitter
- CCDC71 p.Ala396Val Uncertain significance Single submitter
- CCDC71 p.Arg155Gln Uncertain significance Single submitter
- CCDC71 p.Arg350Gln Uncertain significance Single submitter
- CCDC71 p.Arg350Trp Uncertain significance Single submitter
- CCDC71 p.Arg373Lys Uncertain significance Single submitter
- CCDC71 p.Arg410Gln Uncertain significance Single submitter
- CCDC71 p.Arg427His Uncertain significance Single submitter
- CCDC71 p.Arg449His Uncertain significance Single submitter
- CCDC71 p.Arg66His Uncertain significance Single submitter
- CCDC71 p.Asp437Val Uncertain significance Single submitter
- CCDC71 p.Gln199Arg Uncertain significance Single submitter
- CCDC71 p.Gly160Ser Uncertain significance Single submitter
- CCDC71 p.Gly168Asp Uncertain significance Single submitter
- CCDC71 p.Gly253Arg Uncertain significance Single submitter
- CCDC71 p.Gly378Asp Uncertain significance Single submitter
- CCDC71 p.His136Asp Uncertain significance Single submitter
- CCDC71 p.His136Leu Uncertain significance Single submitter
- CCDC71 p.Leu165Ile Uncertain significance Single submitter
- CCDC71 p.Leu86Val Uncertain significance Single submitter
- CCDC71 p.Lys226Arg Uncertain significance Single submitter
- CCDC71 p.Lys230Arg Uncertain significance Single submitter
- CCDC71 p.Lys380Glu Uncertain significance Single submitter
- CCDC71 p.Lys430Arg Uncertain significance Single submitter
- CCDC71 p.Met107Thr Uncertain significance Single submitter
- CCDC71 p.Met189Val Uncertain significance Single submitter
- CCDC71 p.Pro220Ala Uncertain significance Single submitter
- CCDC71 p.Pro220Leu Uncertain significance Single submitter
- CCDC71 p.Pro223Leu Uncertain significance Single submitter
- CCDC71 p.Pro225Ser Uncertain significance Single submitter
- CCDC71 p.Pro236Leu Uncertain significance Single submitter
- CCDC71 p.Pro248Ala Uncertain significance Single submitter
- CCDC71 p.Pro418Arg Uncertain significance Single submitter
- CCDC71 p.Ser204Leu Uncertain significance Single submitter
- CCDC71 p.Ser74Gly Uncertain significance Single submitter
- CCDC71 p.Thr105Ser Uncertain significance Single submitter
- CCDC71 p.Thr262Ser Uncertain significance Single submitter
- CCDC71 p.Val355Ala Uncertain significance Single submitter
- CCDC71 p.Val455Ile Uncertain significance Single submitter
Predictors split 33
The independent predictors disagree with each other — read with care.
- CCDC71 p.Ala281Gly Uncertain significance Single submitter
- CCDC71 p.Ala283Asp Uncertain significance Single submitter
- CCDC71 p.Arg224Trp Uncertain significance Single submitter
- CCDC71 p.Arg268Trp Uncertain significance Single submitter
- CCDC71 p.Arg287Gln Uncertain significance Single submitter
- CCDC71 p.Arg294Cys Likely benign Single submitter
- CCDC71 p.Arg310Trp Uncertain significance Single submitter
- CCDC71 p.Arg357Trp Uncertain significance Single submitter
- CCDC71 p.Arg382His Likely benign Single submitter
- CCDC71 p.Arg390Lys Uncertain significance Single submitter
- CCDC71 p.Arg406Gln Uncertain significance Single submitter
- CCDC71 p.Arg406Trp Uncertain significance Single submitter
- CCDC71 p.Arg434Trp Uncertain significance Single submitter
- CCDC71 p.Arg443Trp Uncertain significance Single submitter
- CCDC71 p.Arg449Cys Uncertain significance Single submitter
- CCDC71 p.Gly235Cys Uncertain significance Single submitter
- CCDC71 p.Gly251Asp Uncertain significance Single submitter
- CCDC71 p.Gly387Glu Uncertain significance Single submitter
- CCDC71 p.Leu175Arg Uncertain significance Single submitter
- CCDC71 p.Leu185Phe Uncertain significance Single submitter
- CCDC71 p.Leu205Phe Uncertain significance Single submitter
- CCDC71 p.Lys218Glu Uncertain significance Single submitter
- CCDC71 p.Lys332Gln Uncertain significance Single submitter
- CCDC71 p.Lys345Arg Uncertain significance Single submitter
- CCDC71 p.Lys354Glu Uncertain significance Single submitter
- CCDC71 p.Lys367Glu Uncertain significance Single submitter
- CCDC71 p.Pro190His Uncertain significance Single submitter
- CCDC71 p.Pro98His Uncertain significance Single submitter
- CCDC71 p.Ser176Cys Uncertain significance Single submitter
- CCDC71 p.Ser38Asn Uncertain significance Single submitter
- CCDC71 p.Thr130Ile Uncertain significance Single submitter
- CCDC71 p.Thr84Met Uncertain significance Single submitter
- CCDC71 p.Val450Met Uncertain significance Single submitter
All CCDC71 variants
Likely benign 9
- p.Arg249Gln Single submitter
- p.Arg250Gln Single submitter
- p.Arg268Gln Single submitter
- p.Arg269Gln Single submitter
- p.Arg294Cys Single submitter ⚠
- p.Arg382His Single submitter ⚠
- p.Arg443Gln Single submitter
- p.Arg446Gln Single submitter
- p.Gly245Arg Single submitter
Uncertain significance 75
- p.Ala106Pro Single submitter ⚠
- p.Ala126Thr Single submitter ⚠
- p.Ala128Val Single submitter ⚠
- p.Ala132Ser Single submitter ⚠
- p.Ala181Gly Single submitter ⚠
- p.Ala246Pro Single submitter ⚠
- p.Ala281Gly Single submitter ⚠
- p.Ala283Asp Single submitter ⚠
- p.Ala396Val Single submitter ⚠
- p.Arg155Gln Single submitter ⚠
- p.Arg224Trp Single submitter ⚠
- p.Arg268Trp Single submitter ⚠
- p.Arg287Gln Single submitter ⚠
- p.Arg310Trp Single submitter ⚠
- p.Arg350Gln Single submitter ⚠
- p.Arg350Trp Single submitter ⚠
- p.Arg357Trp Single submitter ⚠
- p.Arg373Lys Single submitter ⚠
- p.Arg390Lys Single submitter ⚠
- p.Arg406Gln Single submitter ⚠
- p.Arg406Trp Single submitter ⚠
- p.Arg410Gln Single submitter ⚠
- p.Arg427His Single submitter ⚠
- p.Arg434Trp Single submitter ⚠
- p.Arg443Trp Single submitter ⚠
- p.Arg449Cys Single submitter ⚠
- p.Arg449His Single submitter ⚠
- p.Arg66His Single submitter ⚠
- p.Asp437Val Single submitter ⚠
- p.Gln199Arg Single submitter ⚠
- p.Gly160Ser Single submitter ⚠
- p.Gly168Asp Single submitter ⚠
- p.Gly235Cys Single submitter ⚠
- p.Gly251Asp Single submitter ⚠
- p.Gly253Arg Single submitter ⚠
- p.Gly378Asp Single submitter ⚠
- p.Gly387Glu Single submitter ⚠
- p.His136Asp Single submitter ⚠
- p.His136Leu Single submitter ⚠
- p.Leu165Ile Single submitter ⚠
- p.Leu175Arg Single submitter ⚠
- p.Leu185Phe Single submitter ⚠
- p.Leu205Phe Single submitter ⚠
- p.Leu86Val Single submitter ⚠
- p.Lys218Glu Single submitter ⚠
- p.Lys226Arg Single submitter ⚠
- p.Lys230Arg Single submitter ⚠
- p.Lys332Gln Single submitter ⚠
- p.Lys345Arg Single submitter ⚠
- p.Lys354Glu Single submitter ⚠
- p.Lys367Glu Single submitter ⚠
- p.Lys380Glu Single submitter ⚠
- p.Lys430Arg Single submitter ⚠
- p.Met107Thr Single submitter ⚠
- p.Met189Val Single submitter ⚠
- p.Pro190His Single submitter ⚠
- p.Pro220Ala Single submitter ⚠
- p.Pro220Leu Single submitter ⚠
- p.Pro223Leu Single submitter ⚠
- p.Pro225Ser Single submitter ⚠
- p.Pro236Leu Single submitter ⚠
- p.Pro248Ala Single submitter ⚠
- p.Pro418Arg Single submitter ⚠
- p.Pro98His Single submitter ⚠
- p.Ser176Cys Single submitter ⚠
- p.Ser204Leu Single submitter ⚠
- p.Ser38Asn Single submitter ⚠
- p.Ser74Gly Single submitter ⚠
- p.Thr105Ser Single submitter ⚠
- p.Thr130Ile Single submitter ⚠
- p.Thr262Ser Single submitter ⚠
- p.Thr84Met Single submitter ⚠
- p.Val355Ala Single submitter ⚠
- p.Val450Met Single submitter ⚠
- p.Val455Ile Single submitter ⚠