CCER1 — 64 ClinVar variants
All ClinVar germline CCER1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 62 flagged for review →
2 Likely benign · 62 Uncertain significance
Full CCER1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 62
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.
- CCER1 p.Ala164Glu Uncertain significance Single submitter
- CCER1 p.Ala225Thr Uncertain significance Single submitter
- CCER1 p.Ala27Val Uncertain significance Single submitter
- CCER1 p.Ala297Thr Uncertain significance Single submitter
- CCER1 p.Arg142Gly Uncertain significance Single submitter
- CCER1 p.Arg155Leu Uncertain significance Single submitter
- CCER1 p.Asn195Asp Uncertain significance Single submitter
- CCER1 p.Asn233Asp Uncertain significance Single submitter
- CCER1 p.Asn268Lys Uncertain significance Single submitter
- CCER1 p.Asn405Asp Uncertain significance Single submitter
- CCER1 p.Gln203His Uncertain significance Single submitter
- CCER1 p.Gln204Glu Uncertain significance Single submitter
- CCER1 p.Gln255His Uncertain significance Single submitter
- CCER1 p.Gln70His Uncertain significance Single submitter
- CCER1 p.Glu177Lys Uncertain significance Single submitter
- CCER1 p.Glu351Gln Uncertain significance Single submitter
- CCER1 p.Glu376Asp Uncertain significance Single submitter
- CCER1 p.Gly127Arg Uncertain significance Single submitter
- CCER1 p.Gly149Arg Uncertain significance Single submitter
- CCER1 p.Gly72Ser Uncertain significance Single submitter
- CCER1 p.Gly86Arg Uncertain significance Single submitter
- CCER1 p.His39Asn Uncertain significance Single submitter
- CCER1 p.His39Leu Uncertain significance Single submitter
- CCER1 p.His52Gln Uncertain significance Single submitter
- CCER1 p.His52Leu Uncertain significance Single submitter
- CCER1 p.His71Tyr Uncertain significance Single submitter
- CCER1 p.Ile197Val Uncertain significance Single submitter
- CCER1 p.Ile389Leu Uncertain significance Single submitter
- CCER1 p.Leu32Val Uncertain significance Single submitter
- CCER1 p.Lys298Thr Uncertain significance Single submitter
- CCER1 p.Lys65Glu Uncertain significance Single submitter
- CCER1 p.Pro136Ser Uncertain significance Single submitter
- CCER1 p.Pro170Arg Uncertain significance Single submitter
- CCER1 p.Pro170Gln Uncertain significance Single submitter
- CCER1 p.Pro265Leu Uncertain significance Single submitter
- CCER1 p.Pro43Leu Uncertain significance Single submitter
- CCER1 p.Pro43Ser Uncertain significance Single submitter
- CCER1 p.Pro73Gln Uncertain significance Single submitter
- CCER1 p.Pro91Leu Uncertain significance Single submitter
- CCER1 p.Ser301Asn Uncertain significance Single submitter
- CCER1 p.Ser366Leu Uncertain significance Single submitter
- CCER1 p.Thr2Ala Uncertain significance Single submitter
- CCER1 p.Trp133Gly Uncertain significance Single submitter
- CCER1 p.Tyr251His Uncertain significance Single submitter
Predictors split 18
The independent predictors disagree with each other — read with care.
- CCER1 p.Arg145His Uncertain significance Single submitter
- CCER1 p.Gln196His Uncertain significance Single submitter
- CCER1 p.Gln217Pro Uncertain significance Single submitter
- CCER1 p.Glu199Asp Uncertain significance Single submitter
- CCER1 p.Glu317Gln Uncertain significance Single submitter
- CCER1 p.Glu342Asp Uncertain significance Single submitter
- CCER1 p.Glu355Asp Uncertain significance Single submitter
- CCER1 p.Gly149Cys Uncertain significance Single submitter
- CCER1 p.Gly17Arg Uncertain significance Single submitter
- CCER1 p.Gly74Asp Uncertain significance Single submitter
- CCER1 p.Ile197Asn Uncertain significance Single submitter
- CCER1 p.Met201Thr Uncertain significance Single submitter
- CCER1 p.Phe378Cys Uncertain significance Single submitter
- CCER1 p.Pro116Arg Uncertain significance Single submitter
- CCER1 p.Pro159Gln Uncertain significance Single submitter
- CCER1 p.Pro96Ala Uncertain significance Single submitter
- CCER1 p.Ser123Tyr Uncertain significance Single submitter
- CCER1 p.Ser34Phe Uncertain significance Single submitter
All CCER1 variants
Likely benign 2
- p.Ala297Glu Single submitter
- p.Val81Leu Single submitter
Uncertain significance 62
- p.Ala164Glu Single submitter ⚠
- p.Ala225Thr Single submitter ⚠
- p.Ala27Val Single submitter ⚠
- p.Ala297Thr Single submitter ⚠
- p.Arg142Gly Single submitter ⚠
- p.Arg145His Single submitter ⚠
- p.Arg155Leu Single submitter ⚠
- p.Asn195Asp Single submitter ⚠
- p.Asn233Asp Single submitter ⚠
- p.Asn268Lys Single submitter ⚠
- p.Asn405Asp Single submitter ⚠
- p.Gln196His Single submitter ⚠
- p.Gln203His Single submitter ⚠
- p.Gln204Glu Single submitter ⚠
- p.Gln217Pro Single submitter ⚠
- p.Gln255His Single submitter ⚠
- p.Gln70His Single submitter ⚠
- p.Glu177Lys Single submitter ⚠
- p.Glu199Asp Single submitter ⚠
- p.Glu317Gln Single submitter ⚠
- p.Glu342Asp Single submitter ⚠
- p.Glu351Gln Single submitter ⚠
- p.Glu355Asp Single submitter ⚠
- p.Glu376Asp Single submitter ⚠
- p.Gly127Arg Single submitter ⚠
- p.Gly149Arg Single submitter ⚠
- p.Gly149Cys Single submitter ⚠
- p.Gly17Arg Single submitter ⚠
- p.Gly72Ser Single submitter ⚠
- p.Gly74Asp Single submitter ⚠
- p.Gly86Arg Single submitter ⚠
- p.His39Asn Single submitter ⚠
- p.His39Leu Single submitter ⚠
- p.His52Gln Single submitter ⚠
- p.His52Leu Single submitter ⚠
- p.His71Tyr Single submitter ⚠
- p.Ile197Asn Single submitter ⚠
- p.Ile197Val Single submitter ⚠
- p.Ile389Leu Single submitter ⚠
- p.Leu32Val Single submitter ⚠
- p.Lys298Thr Single submitter ⚠
- p.Lys65Glu Single submitter ⚠
- p.Met201Thr Single submitter ⚠
- p.Phe378Cys Single submitter ⚠
- p.Pro116Arg Single submitter ⚠
- p.Pro136Ser Single submitter ⚠
- p.Pro159Gln Single submitter ⚠
- p.Pro170Arg Single submitter ⚠
- p.Pro170Gln Single submitter ⚠
- p.Pro265Leu Single submitter ⚠
- p.Pro43Leu Single submitter ⚠
- p.Pro43Ser Single submitter ⚠
- p.Pro73Gln Single submitter ⚠
- p.Pro91Leu Single submitter ⚠
- p.Pro96Ala Single submitter ⚠
- p.Ser123Tyr Single submitter ⚠
- p.Ser301Asn Single submitter ⚠
- p.Ser34Phe Single submitter ⚠
- p.Ser366Leu Single submitter ⚠
- p.Thr2Ala Single submitter ⚠
- p.Trp133Gly Single submitter ⚠
- p.Tyr251His Single submitter ⚠