C2CD4D — 75 ClinVar variants
All ClinVar germline C2CD4D variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 75 flagged for review →
1 Likely benign · 74 Uncertain significance
Full C2CD4D gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 75
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 42
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- C2CD4D p.Ala31Ser Uncertain significance Single submitter
- C2CD4D p.Ala38Pro Uncertain significance Single submitter
- C2CD4D p.Ala63Glu Uncertain significance Single submitter
- C2CD4D p.Ala78Thr Uncertain significance Single submitter
- C2CD4D p.Arg102Trp Uncertain significance Single submitter
- C2CD4D p.Arg185Ser Uncertain significance Single submitter
- C2CD4D p.Arg186Ser Uncertain significance Single submitter
- C2CD4D p.Arg205Gln Uncertain significance Single submitter
- C2CD4D p.Arg267Gly Uncertain significance Single submitter
- C2CD4D p.Arg47Cys Uncertain significance Single submitter
- C2CD4D p.Arg88Gly Uncertain significance Single submitter
- C2CD4D p.Asn41Ser Uncertain significance Single submitter
- C2CD4D p.Glu89Gln Uncertain significance Single submitter
- C2CD4D p.Gly116Ala Uncertain significance Single submitter
- C2CD4D p.Gly116Arg Uncertain significance Single submitter
- C2CD4D p.Gly117Glu Uncertain significance Single submitter
- C2CD4D p.Gly117Val Uncertain significance Single submitter
- C2CD4D p.Gly157Ser Uncertain significance Single submitter
- C2CD4D p.Gly24Arg Uncertain significance Single submitter
- C2CD4D p.Gly62Ser Uncertain significance Single submitter
- C2CD4D p.Gly8Ser Uncertain significance Single submitter
- C2CD4D p.His167Pro Uncertain significance Single submitter
- C2CD4D p.Leu169Val Uncertain significance Single submitter
- C2CD4D p.Phe151Ser Uncertain significance Single submitter
- C2CD4D p.Phe286Val Uncertain significance Single submitter
- C2CD4D p.Pro110Leu Uncertain significance Single submitter
- C2CD4D p.Pro166Ala Uncertain significance Single submitter
- C2CD4D p.Pro189Ser Uncertain significance Single submitter
- C2CD4D p.Pro206Ser Uncertain significance Single submitter
- C2CD4D p.Pro251Ala Uncertain significance Single submitter
- C2CD4D p.Pro49Arg Uncertain significance Single submitter
- C2CD4D p.Pro49Leu Uncertain significance Single submitter
- C2CD4D p.Pro65Ala Uncertain significance Single submitter
- C2CD4D p.Pro98Gln Uncertain significance Single submitter
- C2CD4D p.Ser105Phe Uncertain significance Single submitter
- C2CD4D p.Ser352Gly Uncertain significance Single submitter
- C2CD4D p.Thr179Ser Uncertain significance Single submitter
- C2CD4D p.Trp20Gly Uncertain significance Single submitter
- C2CD4D p.Val11Gly Uncertain significance Single submitter
- C2CD4D p.Val320Ala Uncertain significance Single submitter
- C2CD4D p.Val64Ala Uncertain significance Single submitter
- C2CD4D p.Val64Gly Uncertain significance Single submitter
Predictors split 33
The independent predictors disagree with each other — read with care.
- C2CD4D p.Ala120Val Uncertain significance Single submitter
- C2CD4D p.Ala301Gly Uncertain significance Single submitter
- C2CD4D p.Ala72Thr Likely benign Single submitter
- C2CD4D p.Arg185His Uncertain significance Single submitter
- C2CD4D p.Arg217Cys Uncertain significance Single submitter
- C2CD4D p.Arg276Cys Uncertain significance Single submitter
- C2CD4D p.Arg29Cys Uncertain significance Single submitter
- C2CD4D p.Arg306Lys Uncertain significance Single submitter
- C2CD4D p.Arg56Trp Uncertain significance Single submitter
- C2CD4D p.Asn287Ser Uncertain significance Single submitter
- C2CD4D p.Asp147Asn Uncertain significance Single submitter
- C2CD4D p.Asp46Asn Uncertain significance Single submitter
- C2CD4D p.Gly116Trp Uncertain significance Single submitter
- C2CD4D p.Gly243Ser Uncertain significance Single submitter
- C2CD4D p.Gly323Ala Uncertain significance Single submitter
- C2CD4D p.Leu316His Uncertain significance Single submitter
- C2CD4D p.Leu329Val Uncertain significance Single submitter
- C2CD4D p.Leu43Phe Uncertain significance Single submitter
- C2CD4D p.Phe107Val Uncertain significance Single submitter
- C2CD4D p.Pro154Gln Uncertain significance Single submitter
- C2CD4D p.Pro192Leu Uncertain significance Single submitter
- C2CD4D p.Pro245Ser Uncertain significance Single submitter
- C2CD4D p.Pro334Ser Uncertain significance Single submitter
- C2CD4D p.Pro58Ser Uncertain significance Single submitter
- C2CD4D p.Pro60Gln Uncertain significance Single submitter
- C2CD4D p.Ser148Leu Uncertain significance Single submitter
- C2CD4D p.Ser148Pro Uncertain significance Single submitter
- C2CD4D p.Ser149Leu Uncertain significance Single submitter
- C2CD4D p.Ser210Arg Uncertain significance Single submitter
- C2CD4D p.Ser345Tyr Uncertain significance Single submitter
- C2CD4D p.Ser352Ile Uncertain significance Single submitter
- C2CD4D p.Thr100Lys Uncertain significance Single submitter
- C2CD4D p.Val277Met Uncertain significance Single submitter
All C2CD4D variants
Likely benign 1
- p.Ala72Thr Single submitter ⚠
Uncertain significance 74
- p.Ala120Val Single submitter ⚠
- p.Ala301Gly Single submitter ⚠
- p.Ala31Ser Single submitter ⚠
- p.Ala38Pro Single submitter ⚠
- p.Ala63Glu Single submitter ⚠
- p.Ala78Thr Single submitter ⚠
- p.Arg102Trp Single submitter ⚠
- p.Arg185His Single submitter ⚠
- p.Arg185Ser Single submitter ⚠
- p.Arg186Ser Single submitter ⚠
- p.Arg205Gln Single submitter ⚠
- p.Arg217Cys Single submitter ⚠
- p.Arg267Gly Single submitter ⚠
- p.Arg276Cys Single submitter ⚠
- p.Arg29Cys Single submitter ⚠
- p.Arg306Lys Single submitter ⚠
- p.Arg47Cys Single submitter ⚠
- p.Arg56Trp Single submitter ⚠
- p.Arg88Gly Single submitter ⚠
- p.Asn287Ser Single submitter ⚠
- p.Asn41Ser Single submitter ⚠
- p.Asp147Asn Single submitter ⚠
- p.Asp46Asn Single submitter ⚠
- p.Glu89Gln Single submitter ⚠
- p.Gly116Ala Single submitter ⚠
- p.Gly116Arg Single submitter ⚠
- p.Gly116Trp Single submitter ⚠
- p.Gly117Glu Single submitter ⚠
- p.Gly117Val Single submitter ⚠
- p.Gly157Ser Single submitter ⚠
- p.Gly243Ser Single submitter ⚠
- p.Gly24Arg Single submitter ⚠
- p.Gly323Ala Single submitter ⚠
- p.Gly62Ser Single submitter ⚠
- p.Gly8Ser Single submitter ⚠
- p.His167Pro Single submitter ⚠
- p.Leu169Val Single submitter ⚠
- p.Leu316His Single submitter ⚠
- p.Leu329Val Single submitter ⚠
- p.Leu43Phe Single submitter ⚠
- p.Phe107Val Single submitter ⚠
- p.Phe151Ser Single submitter ⚠
- p.Phe286Val Single submitter ⚠
- p.Pro110Leu Single submitter ⚠
- p.Pro154Gln Single submitter ⚠
- p.Pro166Ala Single submitter ⚠
- p.Pro189Ser Single submitter ⚠
- p.Pro192Leu Single submitter ⚠
- p.Pro206Ser Single submitter ⚠
- p.Pro245Ser Single submitter ⚠
- p.Pro251Ala Single submitter ⚠
- p.Pro334Ser Single submitter ⚠
- p.Pro49Arg Single submitter ⚠
- p.Pro49Leu Single submitter ⚠
- p.Pro58Ser Single submitter ⚠
- p.Pro60Gln Single submitter ⚠
- p.Pro65Ala Single submitter ⚠
- p.Pro98Gln Single submitter ⚠
- p.Ser105Phe Single submitter ⚠
- p.Ser148Leu Single submitter ⚠
- p.Ser148Pro Single submitter ⚠
- p.Ser149Leu Single submitter ⚠
- p.Ser210Arg Single submitter ⚠
- p.Ser345Tyr Single submitter ⚠
- p.Ser352Gly Single submitter ⚠
- p.Ser352Ile Single submitter ⚠
- p.Thr100Lys Single submitter ⚠
- p.Thr179Ser Single submitter ⚠
- p.Trp20Gly Single submitter ⚠
- p.Val11Gly Single submitter ⚠
- p.Val277Met Single submitter ⚠
- p.Val320Ala Single submitter ⚠
- p.Val64Ala Single submitter ⚠
- p.Val64Gly Single submitter ⚠