C2CD4A — 90 ClinVar variants
All ClinVar germline C2CD4A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 85 flagged for review →
5 Likely benign · 85 Uncertain significance
Full C2CD4A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 85
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 43
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- C2CD4A p.Ala102Thr Uncertain significance Single submitter
- C2CD4A p.Ala160Thr Uncertain significance Single submitter
- C2CD4A p.Ala318Thr Uncertain significance Single submitter
- C2CD4A p.Ala318Val Uncertain significance Single submitter
- C2CD4A p.Ala338Val Uncertain significance Single submitter
- C2CD4A p.Arg177Gly Uncertain significance Single submitter
- C2CD4A p.Arg180Ser Uncertain significance Single submitter
- C2CD4A p.Arg183Ser Uncertain significance Single submitter
- C2CD4A p.Arg203Pro Uncertain significance Single submitter
- C2CD4A p.Arg235Gln Uncertain significance Single submitter
- C2CD4A p.Arg25Pro Uncertain significance Single submitter
- C2CD4A p.Arg80Leu Uncertain significance Single submitter
- C2CD4A p.Asn66Ser Uncertain significance Single submitter
- C2CD4A p.Asp170Ala Uncertain significance Single submitter
- C2CD4A p.Gln169Pro Uncertain significance Single submitter
- C2CD4A p.Gln322Arg Uncertain significance Single submitter
- C2CD4A p.Glu12Ala Uncertain significance Single submitter
- C2CD4A p.Glu351Asp Uncertain significance Single submitter
- C2CD4A p.Glu76Gln Uncertain significance Single submitter
- C2CD4A p.Gly123Arg Uncertain significance Single submitter
- C2CD4A p.Gly137Asp Uncertain significance Single submitter
- C2CD4A p.Gly140Ser Uncertain significance Single submitter
- C2CD4A p.Gly140Val Uncertain significance Single submitter
- C2CD4A p.Gly163Ser Uncertain significance Single submitter
- C2CD4A p.Gly178Arg Uncertain significance Single submitter
- C2CD4A p.Gly187Arg Uncertain significance Single submitter
- C2CD4A p.Gly282Glu Uncertain significance Single submitter
- C2CD4A p.Leu121Pro Uncertain significance Single submitter
- C2CD4A p.Leu189Pro Uncertain significance Single submitter
- C2CD4A p.Leu21Pro Uncertain significance Single submitter
- C2CD4A p.Leu363Val Uncertain significance Single submitter
- C2CD4A p.Leu4Pro Uncertain significance Single submitter
- C2CD4A p.Lys342Asn Uncertain significance Single submitter
- C2CD4A p.Pro125Leu Uncertain significance Single submitter
- C2CD4A p.Pro151Leu Uncertain significance Single submitter
- C2CD4A p.Pro232Leu Uncertain significance Single submitter
- C2CD4A p.Pro23Ser Uncertain significance Single submitter
- C2CD4A p.Ser17Arg Uncertain significance Single submitter
- C2CD4A p.Ser198Gly Uncertain significance Single submitter
- C2CD4A p.Thr114Ser Uncertain significance Single submitter
- C2CD4A p.Trp68Ser Uncertain significance Single submitter
- C2CD4A p.Val297Leu Uncertain significance Single submitter
- C2CD4A p.Val69Ile Uncertain significance Single submitter
Predictors split 42
The independent predictors disagree with each other — read with care.
- C2CD4A p.Ala192Glu Uncertain significance Single submitter
- C2CD4A p.Ala226Asp Uncertain significance Single submitter
- C2CD4A p.Arg180Cys Uncertain significance Single submitter
- C2CD4A p.Arg205His Uncertain significance Single submitter
- C2CD4A p.Arg258Cys Uncertain significance Single submitter
- C2CD4A p.Arg273Trp Uncertain significance Single submitter
- C2CD4A p.Arg288Gln Uncertain significance Single submitter
- C2CD4A p.Arg306Pro Uncertain significance Single submitter
- C2CD4A p.Arg314Cys Uncertain significance Single submitter
- C2CD4A p.Arg336Cys Uncertain significance Single submitter
- C2CD4A p.Arg348His Uncertain significance Single submitter
- C2CD4A p.Arg350Gln Uncertain significance Single submitter
- C2CD4A p.Arg45Pro Uncertain significance Single submitter
- C2CD4A p.Asp44Gly Uncertain significance Single submitter
- C2CD4A p.Asp75Asn Uncertain significance Single submitter
- C2CD4A p.Cys106Ser Uncertain significance Single submitter
- C2CD4A p.Glu278Lys Uncertain significance Single submitter
- C2CD4A p.Glu5Val Uncertain significance Single submitter
- C2CD4A p.Gly163Val Uncertain significance Single submitter
- C2CD4A p.Gly18Glu Uncertain significance Single submitter
- C2CD4A p.Gly210Trp Uncertain significance Single submitter
- C2CD4A p.Gly24Cys Uncertain significance Single submitter
- C2CD4A p.Gly328Cys Uncertain significance Single submitter
- C2CD4A p.Gly347Asp Uncertain significance Single submitter
- C2CD4A p.Leu145Val Uncertain significance Single submitter
- C2CD4A p.Leu172Phe Uncertain significance Single submitter
- C2CD4A p.Leu361Gln Uncertain significance Single submitter
- C2CD4A p.Leu61Trp Uncertain significance Single submitter
- C2CD4A p.Pro126Leu Uncertain significance Single submitter
- C2CD4A p.Pro159Ser Uncertain significance Single submitter
- C2CD4A p.Pro167Gln Uncertain significance Single submitter
- C2CD4A p.Pro227Thr Uncertain significance Single submitter
- C2CD4A p.Ser206Ala Uncertain significance Single submitter
- C2CD4A p.Ser206Thr Uncertain significance Single submitter
- C2CD4A p.Ser208Tyr Uncertain significance Single submitter
- C2CD4A p.Ser220Tyr Uncertain significance Single submitter
- C2CD4A p.Thr147Asn Uncertain significance Single submitter
- C2CD4A p.Thr202Ile Uncertain significance Single submitter
- C2CD4A p.Thr34Ile Uncertain significance Single submitter
- C2CD4A p.Tyr103Cys Uncertain significance Single submitter
- C2CD4A p.Val99Met Uncertain significance Single submitter
-
C2CD4A p.His95Pro
Uncertain significance
No assertion criteria
esophageal atresia
All C2CD4A variants
Likely benign 5
- p.Arg174Pro Single submitter
- p.Cys164Gly Single submitter
- p.Gly124Asp Single submitter
- p.Met74Thr Single submitter
- p.Thr202Ala Single submitter
Uncertain significance 85
- p.Ala102Thr Single submitter ⚠
- p.Ala160Thr Single submitter ⚠
- p.Ala192Glu Single submitter ⚠
- p.Ala226Asp Single submitter ⚠
- p.Ala318Thr Single submitter ⚠
- p.Ala318Val Single submitter ⚠
- p.Ala338Val Single submitter ⚠
- p.Arg177Gly Single submitter ⚠
- p.Arg180Cys Single submitter ⚠
- p.Arg180Ser Single submitter ⚠
- p.Arg183Ser Single submitter ⚠
- p.Arg203Pro Single submitter ⚠
- p.Arg205His Single submitter ⚠
- p.Arg235Gln Single submitter ⚠
- p.Arg258Cys Single submitter ⚠
- p.Arg25Pro Single submitter ⚠
- p.Arg273Trp Single submitter ⚠
- p.Arg288Gln Single submitter ⚠
- p.Arg306Pro Single submitter ⚠
- p.Arg314Cys Single submitter ⚠
- p.Arg336Cys Single submitter ⚠
- p.Arg348His Single submitter ⚠
- p.Arg350Gln Single submitter ⚠
- p.Arg45Pro Single submitter ⚠
- p.Arg80Leu Single submitter ⚠
- p.Asn66Ser Single submitter ⚠
- p.Asp170Ala Single submitter ⚠
- p.Asp44Gly Single submitter ⚠
- p.Asp75Asn Single submitter ⚠
- p.Cys106Ser Single submitter ⚠
- p.Gln169Pro Single submitter ⚠
- p.Gln322Arg Single submitter ⚠
- p.Glu12Ala Single submitter ⚠
- p.Glu278Lys Single submitter ⚠
- p.Glu351Asp Single submitter ⚠
- p.Glu5Val Single submitter ⚠
- p.Glu76Gln Single submitter ⚠
- p.Gly123Arg Single submitter ⚠
- p.Gly137Asp Single submitter ⚠
- p.Gly140Ser Single submitter ⚠
- p.Gly140Val Single submitter ⚠
- p.Gly163Ser Single submitter ⚠
- p.Gly163Val Single submitter ⚠
- p.Gly178Arg Single submitter ⚠
- p.Gly187Arg Single submitter ⚠
- p.Gly18Glu Single submitter ⚠
- p.Gly210Trp Single submitter ⚠
- p.Gly24Cys Single submitter ⚠
- p.Gly282Glu Single submitter ⚠
- p.Gly328Cys Single submitter ⚠
- p.Gly347Asp Single submitter ⚠
- p.Leu121Pro Single submitter ⚠
- p.Leu145Val Single submitter ⚠
- p.Leu172Phe Single submitter ⚠
- p.Leu189Pro Single submitter ⚠
- p.Leu21Pro Single submitter ⚠
- p.Leu361Gln Single submitter ⚠
- p.Leu363Val Single submitter ⚠
- p.Leu4Pro Single submitter ⚠
- p.Leu61Trp Single submitter ⚠
- p.Lys342Asn Single submitter ⚠
- p.Pro125Leu Single submitter ⚠
- p.Pro126Leu Single submitter ⚠
- p.Pro151Leu Single submitter ⚠
- p.Pro159Ser Single submitter ⚠
- p.Pro167Gln Single submitter ⚠
- p.Pro227Thr Single submitter ⚠
- p.Pro232Leu Single submitter ⚠
- p.Pro23Ser Single submitter ⚠
- p.Ser17Arg Single submitter ⚠
- p.Ser198Gly Single submitter ⚠
- p.Ser206Ala Single submitter ⚠
- p.Ser206Thr Single submitter ⚠
- p.Ser208Tyr Single submitter ⚠
- p.Ser220Tyr Single submitter ⚠
- p.Thr114Ser Single submitter ⚠
- p.Thr147Asn Single submitter ⚠
- p.Thr202Ile Single submitter ⚠
- p.Thr34Ile Single submitter ⚠
- p.Trp68Ser Single submitter ⚠
- p.Tyr103Cys Single submitter ⚠
- p.Val297Leu Single submitter ⚠
- p.Val69Ile Single submitter ⚠
- p.Val99Met Single submitter ⚠
- p.His95Pro No assertion criteria esophageal atresia ⚠