CCDC117 — 58 ClinVar variants
All ClinVar germline CCDC117 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 53 flagged for review →
5 Likely benign · 53 Uncertain significance
Full CCDC117 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 53
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.
- CCDC117 p.Arg203Cys Uncertain significance Single submitter
- CCDC117 p.Arg203His Uncertain significance Single submitter
- CCDC117 p.Arg62Cys Uncertain significance Single submitter
- CCDC117 p.Asp107Asn Uncertain significance Single submitter
- CCDC117 p.Asp127Gly Uncertain significance Single submitter
- CCDC117 p.Asp154Asn Uncertain significance Single submitter
- CCDC117 p.Asp79Glu Uncertain significance Single submitter
- CCDC117 p.Cys81Tyr Uncertain significance Single submitter
- CCDC117 p.Gln141Pro Uncertain significance Single submitter
- CCDC117 p.Glu109Ala Uncertain significance Single submitter
- CCDC117 p.Glu131Val Uncertain significance Single submitter
- CCDC117 p.Glu188Lys Uncertain significance Single submitter
- CCDC117 p.Glu191Asp Uncertain significance Single submitter
- CCDC117 p.Glu77Asp Uncertain significance Single submitter
- CCDC117 p.Gly35Arg Uncertain significance Single submitter
- CCDC117 p.Gly61Arg Uncertain significance Single submitter
- CCDC117 p.His239Arg Uncertain significance Single submitter
- CCDC117 p.His239Tyr Uncertain significance Single submitter
- CCDC117 p.His66Arg Uncertain significance Single submitter
- CCDC117 p.Leu263Pro Uncertain significance Single submitter
- CCDC117 p.Lys186Arg Uncertain significance Single submitter
- CCDC117 p.Met201Val Uncertain significance Single submitter
- CCDC117 p.Pro247Leu Uncertain significance Single submitter
- CCDC117 p.Pro25Leu Uncertain significance Single submitter
- CCDC117 p.Pro43Ser Uncertain significance Single submitter
- CCDC117 p.Pro51Ser Uncertain significance Single submitter
- CCDC117 p.Ser118Gly Uncertain significance Single submitter
- CCDC117 p.Ser118Thr Uncertain significance Single submitter
- CCDC117 p.Ser178Cys Uncertain significance Single submitter
- CCDC117 p.Ser225Thr Uncertain significance Single submitter
- CCDC117 p.Ser52Thr Uncertain significance Single submitter
- CCDC117 p.Ser53Gly Uncertain significance Single submitter
- CCDC117 p.Ser57Arg Uncertain significance Single submitter
- CCDC117 p.Thr136Ala Uncertain significance Single submitter
- CCDC117 p.Thr137Pro Uncertain significance Single submitter
- CCDC117 p.Thr228Ile Uncertain significance Single submitter
- CCDC117 p.Thr244Pro Uncertain significance Single submitter
- CCDC117 p.Thr271Ser Uncertain significance Single submitter
- CCDC117 p.Val108Leu Uncertain significance Single submitter
- CCDC117 p.Val209Ile Uncertain significance Single submitter
- CCDC117 p.Val65Leu Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- CCDC117 p.Ala55Val Uncertain significance Single submitter
- CCDC117 p.Arg146Gln Uncertain significance Single submitter
- CCDC117 p.Arg44Trp Uncertain significance Single submitter
- CCDC117 p.Arg48His Uncertain significance Single submitter
- CCDC117 p.Arg6Gly Uncertain significance Single submitter
- CCDC117 p.Arg87Ser Uncertain significance Single submitter
- CCDC117 p.Glu151Asp Uncertain significance Single submitter
- CCDC117 p.Glu90Lys Uncertain significance Single submitter
- CCDC117 p.Gly5Ser Uncertain significance Single submitter
- CCDC117 p.Phe32Leu Uncertain significance Single submitter
- CCDC117 p.Phe8Leu Uncertain significance Single submitter
- CCDC117 p.Ser64Phe Uncertain significance Single submitter
All CCDC117 variants
Likely benign 5
- p.Ala55Gly Single submitter
- p.Glu40Asp Single submitter
- p.Pro45Ser Single submitter
- p.Ser254Leu Single submitter
- p.Thr271Ala Single submitter
Uncertain significance 53
- p.Ala55Val Single submitter ⚠
- p.Arg146Gln Single submitter ⚠
- p.Arg203Cys Single submitter ⚠
- p.Arg203His Single submitter ⚠
- p.Arg44Trp Single submitter ⚠
- p.Arg48His Single submitter ⚠
- p.Arg62Cys Single submitter ⚠
- p.Arg6Gly Single submitter ⚠
- p.Arg87Ser Single submitter ⚠
- p.Asp107Asn Single submitter ⚠
- p.Asp127Gly Single submitter ⚠
- p.Asp154Asn Single submitter ⚠
- p.Asp79Glu Single submitter ⚠
- p.Cys81Tyr Single submitter ⚠
- p.Gln141Pro Single submitter ⚠
- p.Glu109Ala Single submitter ⚠
- p.Glu131Val Single submitter ⚠
- p.Glu151Asp Single submitter ⚠
- p.Glu188Lys Single submitter ⚠
- p.Glu191Asp Single submitter ⚠
- p.Glu77Asp Single submitter ⚠
- p.Glu90Lys Single submitter ⚠
- p.Gly35Arg Single submitter ⚠
- p.Gly5Ser Single submitter ⚠
- p.Gly61Arg Single submitter ⚠
- p.His239Arg Single submitter ⚠
- p.His239Tyr Single submitter ⚠
- p.His66Arg Single submitter ⚠
- p.Leu263Pro Single submitter ⚠
- p.Lys186Arg Single submitter ⚠
- p.Met201Val Single submitter ⚠
- p.Phe32Leu Single submitter ⚠
- p.Phe8Leu Single submitter ⚠
- p.Pro247Leu Single submitter ⚠
- p.Pro25Leu Single submitter ⚠
- p.Pro43Ser Single submitter ⚠
- p.Pro51Ser Single submitter ⚠
- p.Ser118Gly Single submitter ⚠
- p.Ser118Thr Single submitter ⚠
- p.Ser178Cys Single submitter ⚠
- p.Ser225Thr Single submitter ⚠
- p.Ser52Thr Single submitter ⚠
- p.Ser53Gly Single submitter ⚠
- p.Ser57Arg Single submitter ⚠
- p.Ser64Phe Single submitter ⚠
- p.Thr136Ala Single submitter ⚠
- p.Thr137Pro Single submitter ⚠
- p.Thr228Ile Single submitter ⚠
- p.Thr244Pro Single submitter ⚠
- p.Thr271Ser Single submitter ⚠
- p.Val108Leu Single submitter ⚠
- p.Val209Ile Single submitter ⚠
- p.Val65Leu Single submitter ⚠