CALCOCO2 — 51 ClinVar variants
All ClinVar germline CALCOCO2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 47 flagged for review →
4 Likely benign · 47 Uncertain significance
Full CALCOCO2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 47
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 27
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CALCOCO2 p.His267Arg Uncertain significance Multiple submitters
- CALCOCO2 p.Ala175Val Uncertain significance Single submitter
- CALCOCO2 p.Ala323Asp Uncertain significance Single submitter
- CALCOCO2 p.Ala375Thr Uncertain significance Single submitter
- CALCOCO2 p.Arg117Gln Uncertain significance Single submitter
- CALCOCO2 p.Arg51His Uncertain significance Single submitter
- CALCOCO2 p.Asn421Ser Uncertain significance Single submitter
- CALCOCO2 p.Asp231Gly Uncertain significance Single submitter
- CALCOCO2 p.Gln181Glu Uncertain significance Single submitter
- CALCOCO2 p.Gln181Lys Uncertain significance Single submitter
- CALCOCO2 p.Gln217Glu Uncertain significance Single submitter
- CALCOCO2 p.Glu143Lys Uncertain significance Single submitter
- CALCOCO2 p.Gly227Arg Uncertain significance Single submitter
- CALCOCO2 p.Gly377Arg Uncertain significance Single submitter
- CALCOCO2 p.His408Gln Uncertain significance Single submitter
- CALCOCO2 p.Ile164Asn Uncertain significance Single submitter
- CALCOCO2 p.Lys213Arg Uncertain significance Single submitter
- CALCOCO2 p.Lys84Thr Uncertain significance Single submitter
- CALCOCO2 p.Ser189Asn Uncertain significance Single submitter
- CALCOCO2 p.Ser390Thr Uncertain significance Single submitter
- CALCOCO2 p.Thr207Ala Uncertain significance Single submitter
- CALCOCO2 p.Thr239Ser Uncertain significance Single submitter
- CALCOCO2 p.Thr43Ser Uncertain significance Single submitter
- CALCOCO2 p.Thr71Ala Uncertain significance Single submitter
- CALCOCO2 p.Tyr348Cys Uncertain significance Single submitter
- CALCOCO2 p.Tyr376Cys Uncertain significance Single submitter
- CALCOCO2 p.Tyr376His Uncertain significance Single submitter
Predictors split 20
The independent predictors disagree with each other — read with care.
- CALCOCO2 p.Arg117Trp Uncertain significance Single submitter
- CALCOCO2 p.Arg126Cys Uncertain significance Single submitter
- CALCOCO2 p.Arg67His Uncertain significance Single submitter
- CALCOCO2 p.Cys422Ser Uncertain significance Single submitter
- CALCOCO2 p.Gln169His Uncertain significance Single submitter
- CALCOCO2 p.Glu141Lys Uncertain significance Single submitter
- CALCOCO2 p.Glu158Val Uncertain significance Single submitter
- CALCOCO2 p.Glu206Ala Uncertain significance Single submitter
- CALCOCO2 p.Glu287Lys Uncertain significance Single submitter
- CALCOCO2 p.Ile133Thr Uncertain significance Single submitter
- CALCOCO2 p.Leu177Phe Uncertain significance Single submitter
- CALCOCO2 p.Leu177Val Uncertain significance Single submitter
- CALCOCO2 p.Leu282Pro Uncertain significance Single submitter
- CALCOCO2 p.Leu337Pro Uncertain significance Single submitter
- CALCOCO2 p.Leu98Val Uncertain significance Single submitter
- CALCOCO2 p.Phe442Leu Uncertain significance Single submitter
- CALCOCO2 p.Pro78Ser Uncertain significance Single submitter
- CALCOCO2 p.Ser393Cys Uncertain significance Single submitter
- CALCOCO2 p.Thr65Ala Uncertain significance Single submitter
- CALCOCO2 p.Thr76Ile Uncertain significance Single submitter
All CALCOCO2 variants
Likely benign 4
- p.Arg52Gln Single submitter
- p.Glu318Lys Single submitter
- p.Lys312Arg Single submitter
- p.Met304Thr Single submitter
Uncertain significance 47
- p.His267Arg Multiple submitters ⚠
- p.Ala175Val Single submitter ⚠
- p.Ala323Asp Single submitter ⚠
- p.Ala375Thr Single submitter ⚠
- p.Arg117Gln Single submitter ⚠
- p.Arg117Trp Single submitter ⚠
- p.Arg126Cys Single submitter ⚠
- p.Arg51His Single submitter ⚠
- p.Arg67His Single submitter ⚠
- p.Asn421Ser Single submitter ⚠
- p.Asp231Gly Single submitter ⚠
- p.Cys422Ser Single submitter ⚠
- p.Gln169His Single submitter ⚠
- p.Gln181Glu Single submitter ⚠
- p.Gln181Lys Single submitter ⚠
- p.Gln217Glu Single submitter ⚠
- p.Glu141Lys Single submitter ⚠
- p.Glu143Lys Single submitter ⚠
- p.Glu158Val Single submitter ⚠
- p.Glu206Ala Single submitter ⚠
- p.Glu287Lys Single submitter ⚠
- p.Gly227Arg Single submitter ⚠
- p.Gly377Arg Single submitter ⚠
- p.His408Gln Single submitter ⚠
- p.Ile133Thr Single submitter ⚠
- p.Ile164Asn Single submitter ⚠
- p.Leu177Phe Single submitter ⚠
- p.Leu177Val Single submitter ⚠
- p.Leu282Pro Single submitter ⚠
- p.Leu337Pro Single submitter ⚠
- p.Leu98Val Single submitter ⚠
- p.Lys213Arg Single submitter ⚠
- p.Lys84Thr Single submitter ⚠
- p.Phe442Leu Single submitter ⚠
- p.Pro78Ser Single submitter ⚠
- p.Ser189Asn Single submitter ⚠
- p.Ser390Thr Single submitter ⚠
- p.Ser393Cys Single submitter ⚠
- p.Thr207Ala Single submitter ⚠
- p.Thr239Ser Single submitter ⚠
- p.Thr43Ser Single submitter ⚠
- p.Thr65Ala Single submitter ⚠
- p.Thr71Ala Single submitter ⚠
- p.Thr76Ile Single submitter ⚠
- p.Tyr348Cys Single submitter ⚠
- p.Tyr376Cys Single submitter ⚠
- p.Tyr376His Single submitter ⚠