CD80 — 33 ClinVar variants
All ClinVar germline CD80 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 29 flagged for review →
4 Benign · 3 Likely benign · 26 Uncertain significance
Full CD80 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 29
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 12
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CD80 p.Arg128Gln Uncertain significance Single submitter
- CD80 p.Arg224Lys Uncertain significance Single submitter
- CD80 p.Arg63Cys Uncertain significance Single submitter
- CD80 p.Asn183Asp Uncertain significance Single submitter
- CD80 p.Cys266Tyr Uncertain significance Single submitter
- CD80 p.Ile147Thr Uncertain significance Single submitter
- CD80 p.Ile161Val Uncertain significance Single submitter
- CD80 p.Ile218Thr Uncertain significance Single submitter
- CD80 p.Leu22Ile Uncertain significance Single submitter
- CD80 p.Thr210Ser Uncertain significance Single submitter
- CD80 p.Tyr87His Uncertain significance Single submitter
- CD80 p.Val45Leu Uncertain significance Single submitter
Predictors split 17
The independent predictors disagree with each other — read with care.
- CD80 p.His222Tyr Benign Multiple submitters
- CD80 p.Arg107His Uncertain significance Single submitter
- CD80 p.Arg286Cys Uncertain significance Single submitter
- CD80 p.Arg286His Uncertain significance Single submitter
- CD80 p.Asn232Asp Uncertain significance Single submitter
- CD80 p.Cys261Arg Uncertain significance Single submitter
- CD80 p.Gln191Lys Uncertain significance Single submitter
- CD80 p.Gln227His Uncertain significance Single submitter
- CD80 p.Glu111Lys Uncertain significance Single submitter
- CD80 p.Glu194Gly Uncertain significance Single submitter
- CD80 p.Glu86Lys Likely benign Single submitter
- CD80 p.Gly27Asp Uncertain significance Single submitter
- CD80 p.Ile160Leu Likely benign Single submitter
- CD80 p.Leu251Phe Uncertain significance Single submitter
- CD80 p.Ser55Phe Uncertain significance Single submitter
- CD80 p.Thr47Ala Uncertain significance Single submitter
- CD80 p.Val118Phe Uncertain significance Single submitter
All CD80 variants
Benign 4
- c.*214T>G Multiple submitters
- c.*780A>T Multiple submitters
- p.His222Tyr Multiple submitters ⚠
- p.Leu99= Single submitter
Likely benign 3
- p.Arg5Trp Single submitter
- p.Glu86Lys Single submitter ⚠
- p.Ile160Leu Single submitter ⚠
Uncertain significance 26
- p.Arg107His Single submitter ⚠
- p.Arg128Gln Single submitter ⚠
- p.Arg224Lys Single submitter ⚠
- p.Arg286Cys Single submitter ⚠
- p.Arg286His Single submitter ⚠
- p.Arg63Cys Single submitter ⚠
- p.Asn183Asp Single submitter ⚠
- p.Asn232Asp Single submitter ⚠
- p.Cys261Arg Single submitter ⚠
- p.Cys266Tyr Single submitter ⚠
- p.Gln191Lys Single submitter ⚠
- p.Gln227His Single submitter ⚠
- p.Glu111Lys Single submitter ⚠
- p.Glu194Gly Single submitter ⚠
- p.Gly27Asp Single submitter ⚠
- p.Ile147Thr Single submitter ⚠
- p.Ile161Val Single submitter ⚠
- p.Ile218Thr Single submitter ⚠
- p.Leu22Ile Single submitter ⚠
- p.Leu251Phe Single submitter ⚠
- p.Ser55Phe Single submitter ⚠
- p.Thr210Ser Single submitter ⚠
- p.Thr47Ala Single submitter ⚠
- p.Tyr87His Single submitter ⚠
- p.Val118Phe Single submitter ⚠
- p.Val45Leu Single submitter ⚠