COPS7B — 26 ClinVar variants
All ClinVar germline COPS7B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 26 flagged for review →
26 Uncertain significance
Full COPS7B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 26
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 16
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- COPS7B p.Ala244Thr Uncertain significance Single submitter
- COPS7B p.Ala29Thr Uncertain significance Single submitter
- COPS7B p.Arg160Cys Uncertain significance Single submitter
- COPS7B p.Arg160His Uncertain significance Single submitter
- COPS7B p.Asn215Ile Uncertain significance Single submitter
- COPS7B p.Gln147Glu Uncertain significance Single submitter
- COPS7B p.Gln229Arg Uncertain significance Single submitter
- COPS7B p.Glu127Asp Uncertain significance Single submitter
- COPS7B p.Lys118Gln Uncertain significance Single submitter
- COPS7B p.Lys164Gln Uncertain significance Single submitter
- COPS7B p.Pro242Ser Uncertain significance Single submitter
- COPS7B p.Pro76Ala Uncertain significance Single submitter
- COPS7B p.Thr223Ala Uncertain significance Single submitter
- COPS7B p.Thr250Ala Uncertain significance Single submitter
- COPS7B p.Thr250Pro Uncertain significance Single submitter
- COPS7B p.Val115Met Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- COPS7B p.Ala222Pro Uncertain significance Single submitter
- COPS7B p.Arg163Gly Uncertain significance Single submitter
- COPS7B p.Arg263His Uncertain significance Single submitter
- COPS7B p.Asn81Ile Uncertain significance Single submitter
- COPS7B p.Gln233His Uncertain significance Single submitter
- COPS7B p.Gly187Asp Uncertain significance Single submitter
- COPS7B p.Leu46Ile Uncertain significance Single submitter
- COPS7B p.Lys255Thr Uncertain significance Single submitter
- COPS7B p.Thr138Ala Uncertain significance Single submitter
- COPS7B p.Tyr198Cys Uncertain significance Single submitter
All COPS7B variants
Uncertain significance 26
- p.Ala222Pro Single submitter ⚠
- p.Ala244Thr Single submitter ⚠
- p.Ala29Thr Single submitter ⚠
- p.Arg160Cys Single submitter ⚠
- p.Arg160His Single submitter ⚠
- p.Arg163Gly Single submitter ⚠
- p.Arg263His Single submitter ⚠
- p.Asn215Ile Single submitter ⚠
- p.Asn81Ile Single submitter ⚠
- p.Gln147Glu Single submitter ⚠
- p.Gln229Arg Single submitter ⚠
- p.Gln233His Single submitter ⚠
- p.Glu127Asp Single submitter ⚠
- p.Gly187Asp Single submitter ⚠
- p.Leu46Ile Single submitter ⚠
- p.Lys118Gln Single submitter ⚠
- p.Lys164Gln Single submitter ⚠
- p.Lys255Thr Single submitter ⚠
- p.Pro242Ser Single submitter ⚠
- p.Pro76Ala Single submitter ⚠
- p.Thr138Ala Single submitter ⚠
- p.Thr223Ala Single submitter ⚠
- p.Thr250Ala Single submitter ⚠
- p.Thr250Pro Single submitter ⚠
- p.Tyr198Cys Single submitter ⚠
- p.Val115Met Single submitter ⚠