C2CD4C — 98 ClinVar variants
All ClinVar germline C2CD4C variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 91 flagged for review →
5 Likely benign · 93 Uncertain significance
Full C2CD4C gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 91
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 74
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- C2CD4C p.Ala107Thr Uncertain significance Single submitter
- C2CD4C p.Ala151Ser Uncertain significance Single submitter
- C2CD4C p.Ala154Ser Uncertain significance Single submitter
- C2CD4C p.Ala181Pro Uncertain significance Single submitter
- C2CD4C p.Ala187Val Uncertain significance Single submitter
- C2CD4C p.Ala203Val Uncertain significance Single submitter
- C2CD4C p.Ala248Thr Uncertain significance Single submitter
- C2CD4C p.Ala265Val Uncertain significance Single submitter
- C2CD4C p.Ala295Val Uncertain significance Single submitter
- C2CD4C p.Ala32Asp Uncertain significance Single submitter
- C2CD4C p.Ala339Ser Uncertain significance Single submitter
- C2CD4C p.Ala339Val Uncertain significance Single submitter
- C2CD4C p.Ala67Val Uncertain significance Single submitter
- C2CD4C p.Ala82Pro Uncertain significance Single submitter
- C2CD4C p.Ala82Val Uncertain significance Single submitter
- C2CD4C p.Ala98Asp Uncertain significance Single submitter
- C2CD4C p.Arg183Leu Uncertain significance Single submitter
- C2CD4C p.Arg184His Uncertain significance Single submitter
- C2CD4C p.Arg185Gly Uncertain significance Single submitter
- C2CD4C p.Arg185Trp Uncertain significance Single submitter
- C2CD4C p.Arg209Cys Uncertain significance Single submitter
- C2CD4C p.Arg259Leu Uncertain significance Single submitter
- C2CD4C p.Arg279Cys Uncertain significance Single submitter
- C2CD4C p.Arg279His Uncertain significance Single submitter
- C2CD4C p.Arg282His Uncertain significance Single submitter
- C2CD4C p.Arg296Pro Uncertain significance Single submitter
- C2CD4C p.Arg306Trp Uncertain significance Single submitter
- C2CD4C p.Arg310Gln Uncertain significance Single submitter
- C2CD4C p.Arg340Cys Uncertain significance Single submitter
- C2CD4C p.Arg84Cys Uncertain significance Single submitter
- C2CD4C p.Arg91Gln Uncertain significance Single submitter
- C2CD4C p.Asn191Asp Uncertain significance Single submitter
- C2CD4C p.Asp266Glu Uncertain significance Single submitter
- C2CD4C p.Asp267Ala Uncertain significance Single submitter
- C2CD4C p.Asp267His Uncertain significance Single submitter
- C2CD4C p.Asp30His Uncertain significance Single submitter
- C2CD4C p.Gln145His Uncertain significance Single submitter
- C2CD4C p.Glu118Asp Uncertain significance Single submitter
- C2CD4C p.Glu291Lys Uncertain significance Single submitter
- C2CD4C p.Glu316Gln Uncertain significance Single submitter
- C2CD4C p.Gly134Val Uncertain significance Single submitter
- C2CD4C p.Gly19Asp Uncertain significance Single submitter
- C2CD4C p.Gly19Ser Uncertain significance Single submitter
- C2CD4C p.Gly214Arg Uncertain significance Single submitter
- C2CD4C p.Gly219Ala Uncertain significance Single submitter
- C2CD4C p.Gly241Asp Uncertain significance Single submitter
- C2CD4C p.Gly261Ser Uncertain significance Single submitter
- C2CD4C p.Gly293Cys Uncertain significance Single submitter
- C2CD4C p.Gly297Glu Uncertain significance Single submitter
- C2CD4C p.Gly318Ser Uncertain significance Single submitter
- C2CD4C p.His170Gln Uncertain significance Single submitter
- C2CD4C p.Leu103Met Uncertain significance Single submitter
- C2CD4C p.Leu231Pro Uncertain significance Single submitter
- C2CD4C p.Lys364Asn Uncertain significance Single submitter
- C2CD4C p.Met136Thr Uncertain significance Single submitter
- C2CD4C p.Pro139Ser Uncertain significance Single submitter
- C2CD4C p.Pro197Ser Uncertain significance Single submitter
- C2CD4C p.Pro270Arg Uncertain significance Single submitter
- C2CD4C p.Pro285Leu Uncertain significance Single submitter
- C2CD4C p.Pro286Leu Uncertain significance Single submitter
- C2CD4C p.Pro305Ser Uncertain significance Single submitter
- C2CD4C p.Pro36Leu Uncertain significance Single submitter
- C2CD4C p.Pro419Ser Uncertain significance Single submitter
- C2CD4C p.Pro48Ser Uncertain significance Single submitter
- C2CD4C p.Pro71Ser Uncertain significance Single submitter
- C2CD4C p.Ser15Phe Uncertain significance Single submitter
- C2CD4C p.Ser264Thr Uncertain significance Single submitter
- C2CD4C p.Ser292Leu Uncertain significance Single submitter
- C2CD4C p.Ser72Pro Uncertain significance Single submitter
- C2CD4C p.Val111Leu Uncertain significance Single submitter
- C2CD4C p.Val236Leu Uncertain significance Single submitter
- C2CD4C p.Val257Met Uncertain significance Single submitter
- C2CD4C p.Val309Leu Uncertain significance Single submitter
- C2CD4C p.Val363Leu Uncertain significance Single submitter
Predictors split 17
The independent predictors disagree with each other — read with care.
- C2CD4C p.Ala329Val Uncertain significance Single submitter
- C2CD4C p.Arg109Trp Uncertain significance Single submitter
- C2CD4C p.Arg161Cys Uncertain significance Single submitter
- C2CD4C p.Arg161Leu Uncertain significance Single submitter
- C2CD4C p.Arg183Cys Uncertain significance Single submitter
- C2CD4C p.Arg234Cys Uncertain significance Single submitter
- C2CD4C p.Arg310Trp Uncertain significance Single submitter
- C2CD4C p.Arg321Cys Uncertain significance Single submitter
- C2CD4C p.Arg386Trp Uncertain significance Single submitter
- C2CD4C p.Asp378His Uncertain significance Single submitter
- C2CD4C p.Cys345Tyr Uncertain significance Single submitter
- C2CD4C p.Glu330Lys Uncertain significance Single submitter
- C2CD4C p.Gly19Cys Uncertain significance Single submitter
- C2CD4C p.His158Gln Uncertain significance Single submitter
- C2CD4C p.Pro54Arg Uncertain significance Single submitter
- C2CD4C p.Pro54His Uncertain significance Single submitter
- C2CD4C p.Pro54Ser Uncertain significance Single submitter
All C2CD4C variants
Likely benign 5
- p.Ala328= Single submitter
- p.Arg368His Single submitter
- p.Asp119Glu Single submitter
- p.Gly208Ser Single submitter
- p.His325Arg Single submitter
Uncertain significance 93
- p.Ala107Thr Single submitter ⚠
- p.Ala151Ser Single submitter ⚠
- p.Ala154Ser Single submitter ⚠
- p.Ala181Pro Single submitter ⚠
- p.Ala187Val Single submitter ⚠
- p.Ala203Val Single submitter ⚠
- p.Ala248Thr Single submitter ⚠
- p.Ala265Val Single submitter ⚠
- p.Ala295Val Single submitter ⚠
- p.Ala329Val Single submitter ⚠
- p.Ala32Asp Single submitter ⚠
- p.Ala339Ser Single submitter ⚠
- p.Ala339Val Single submitter ⚠
- p.Ala67Val Single submitter ⚠
- p.Ala82Pro Single submitter ⚠
- p.Ala82Val Single submitter ⚠
- p.Ala98Asp Single submitter ⚠
- p.Arg109Trp Single submitter ⚠
- p.Arg161Cys Single submitter ⚠
- p.Arg161Leu Single submitter ⚠
- p.Arg183Cys Single submitter ⚠
- p.Arg183Leu Single submitter ⚠
- p.Arg184His Single submitter ⚠
- p.Arg185Gly Single submitter ⚠
- p.Arg185Trp Single submitter ⚠
- p.Arg209Cys Single submitter ⚠
- p.Arg234Cys Single submitter ⚠
- p.Arg259Leu Single submitter ⚠
- p.Arg279Cys Single submitter ⚠
- p.Arg279His Single submitter ⚠
- p.Arg282His Single submitter ⚠
- p.Arg296Pro Single submitter ⚠
- p.Arg306Trp Single submitter ⚠
- p.Arg310Gln Single submitter ⚠
- p.Arg310Trp Single submitter ⚠
- p.Arg321Cys Single submitter ⚠
- p.Arg340Cys Single submitter ⚠
- p.Arg386Trp Single submitter ⚠
- p.Arg84Cys Single submitter ⚠
- p.Arg91Gln Single submitter ⚠
- p.Asn191Asp Single submitter ⚠
- p.Asp266Glu Single submitter ⚠
- p.Asp267Ala Single submitter ⚠
- p.Asp267His Single submitter ⚠
- p.Asp30His Single submitter ⚠
- p.Asp378Asn Single submitter
- p.Asp378His Single submitter ⚠
- p.Cys345Tyr Single submitter ⚠
- p.Gln145His Single submitter ⚠
- p.Glu118Asp Single submitter ⚠
- p.Glu291Lys Single submitter ⚠
- p.Glu316Gln Single submitter ⚠
- p.Glu330Lys Single submitter ⚠
- p.Gly134Val Single submitter ⚠
- p.Gly19Asp Single submitter ⚠
- p.Gly19Cys Single submitter ⚠
- p.Gly19Ser Single submitter ⚠
- p.Gly214Arg Single submitter ⚠
- p.Gly219Ala Single submitter ⚠
- p.Gly241Asp Single submitter ⚠
- p.Gly261Ser Single submitter ⚠
- p.Gly293Cys Single submitter ⚠
- p.Gly297Glu Single submitter ⚠
- p.Gly318Ser Single submitter ⚠
- p.His158Gln Single submitter ⚠
- p.His170Gln Single submitter ⚠
- p.Leu103Met Single submitter ⚠
- p.Leu231Pro Single submitter ⚠
- p.Lys364Asn Single submitter ⚠
- p.Met136Thr Single submitter ⚠
- p.Pro139Ser Single submitter ⚠
- p.Pro197Ser Single submitter ⚠
- p.Pro270Arg Single submitter ⚠
- p.Pro285Leu Single submitter ⚠
- p.Pro286Leu Single submitter ⚠
- p.Pro305Ser Single submitter ⚠
- p.Pro36Leu Single submitter ⚠
- p.Pro419Ser Single submitter ⚠
- p.Pro48Ser Single submitter ⚠
- p.Pro54Arg Single submitter ⚠
- p.Pro54His Single submitter ⚠
- p.Pro54Ser Single submitter ⚠
- p.Pro71Ser Single submitter ⚠
- p.Ser15Phe Single submitter ⚠
- p.Ser264Thr Single submitter ⚠
- p.Ser292Leu Single submitter ⚠
- p.Ser72Pro Single submitter ⚠
- p.Ser89Asn Single submitter
- p.Val111Leu Single submitter ⚠
- p.Val236Leu Single submitter ⚠
- p.Val257Met Single submitter ⚠
- p.Val309Leu Single submitter ⚠
- p.Val363Leu Single submitter ⚠