COPS6 — 32 ClinVar variants
All ClinVar germline COPS6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 31 flagged for review →
1 Likely benign · 31 Uncertain significance
Full COPS6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 31
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 15
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- COPS6 p.Ala290Thr Uncertain significance Single submitter
- COPS6 p.Gly319Ser Uncertain significance Single submitter
- COPS6 p.Gly63Arg Uncertain significance Single submitter
- COPS6 p.Ile318Ser Uncertain significance Single submitter
- COPS6 p.Ile48Leu Uncertain significance Single submitter
- COPS6 p.Met289Val Uncertain significance Single submitter
- COPS6 p.Pro45Ala Uncertain significance Single submitter
- COPS6 p.Ser245Cys Uncertain significance Single submitter
- COPS6 p.Thr126Ser Uncertain significance Single submitter
- COPS6 p.Thr14Pro Uncertain significance Single submitter
- COPS6 p.Thr296Ser Uncertain significance Single submitter
- COPS6 p.Val138Ile Uncertain significance Single submitter
- COPS6 p.Val242Ile Uncertain significance Single submitter
- COPS6 p.Val242Phe Uncertain significance Single submitter
- COPS6 p.Val47Asp Uncertain significance Single submitter
Predictors split 16
The independent predictors disagree with each other — read with care.
- COPS6 p.Ala42Val Uncertain significance Single submitter
- COPS6 p.Ala7Val Uncertain significance Single submitter
- COPS6 p.Asn307Lys Uncertain significance Single submitter
- COPS6 p.Asp101Glu Uncertain significance Single submitter
- COPS6 p.Glu240Ala Uncertain significance Single submitter
- COPS6 p.Gly129Glu Uncertain significance Single submitter
- COPS6 p.Gly293Ser Uncertain significance Single submitter
- COPS6 p.Ile98Phe Uncertain significance Single submitter
- COPS6 p.Leu288Ile Uncertain significance Single submitter
- COPS6 p.Met181Val Uncertain significance Single submitter
- COPS6 p.Ser134Leu Uncertain significance Single submitter
- COPS6 p.Ser18Asn Uncertain significance Single submitter
- COPS6 p.Thr107Ile Uncertain significance Single submitter
- COPS6 p.Tyr261Cys Uncertain significance Single submitter
- COPS6 p.Val306Met Uncertain significance Single submitter
-
COPS6 p.Ser211Arg
Uncertain significance
No assertion criteria
prostate cancer
All COPS6 variants
Likely benign 1
- p.Val235Ile No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
Uncertain significance 31
- p.Ala290Thr Single submitter ⚠
- p.Ala42Val Single submitter ⚠
- p.Ala7Val Single submitter ⚠
- p.Asn307Lys Single submitter ⚠
- p.Asp101Glu Single submitter ⚠
- p.Glu240Ala Single submitter ⚠
- p.Gly129Glu Single submitter ⚠
- p.Gly293Ser Single submitter ⚠
- p.Gly319Ser Single submitter ⚠
- p.Gly63Arg Single submitter ⚠
- p.Ile318Ser Single submitter ⚠
- p.Ile48Leu Single submitter ⚠
- p.Ile98Phe Single submitter ⚠
- p.Leu288Ile Single submitter ⚠
- p.Met181Val Single submitter ⚠
- p.Met289Val Single submitter ⚠
- p.Pro45Ala Single submitter ⚠
- p.Ser134Leu Single submitter ⚠
- p.Ser18Asn Single submitter ⚠
- p.Ser245Cys Single submitter ⚠
- p.Thr107Ile Single submitter ⚠
- p.Thr126Ser Single submitter ⚠
- p.Thr14Pro Single submitter ⚠
- p.Thr296Ser Single submitter ⚠
- p.Tyr261Cys Single submitter ⚠
- p.Val138Ile Single submitter ⚠
- p.Val242Ile Single submitter ⚠
- p.Val242Phe Single submitter ⚠
- p.Val306Met Single submitter ⚠
- p.Val47Asp Single submitter ⚠
- p.Ser211Arg No assertion criteria prostate cancer ⚠