COPZ1 — 22 ClinVar variants

All ClinVar germline COPZ1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 19 flagged for review →

1 Pathogenic · 1 Benign · 1 Likely benign · 19 Uncertain significance

Full COPZ1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 19

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 9

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 10

The independent predictors disagree with each other — read with care.

All COPZ1 variants

Pathogenic 1

p.Gln140fs Single submitter neutropenia, severe congenital, 12, autosomal recessive

Benign 1

p.Thr159= Multiple submitters

Likely benign 1

p.Asp32= Single submitter

Uncertain significance 19

p.Ala167Thr Single submitter ⚠
p.Ala43Val Single submitter ⚠
p.Arg112Gln Single submitter ⚠
p.Arg145Gln Single submitter ⚠
p.Arg145Trp Single submitter ⚠
p.Arg25Gln Single submitter ⚠
p.Asn21Lys Single submitter ⚠
p.Asp138His Single submitter ⚠
p.Glu58Val Single submitter ⚠
p.Leu62Trp Single submitter ⚠
p.Leu94Met Single submitter ⚠
p.Lys46Arg Single submitter ⚠
p.Lys51Asn Single submitter ⚠
p.Thr12Ile Single submitter ⚠
p.Tyr31Cys Single submitter ⚠
p.Tyr69Ser Single submitter ⚠
p.Tyr84Cys Single submitter ⚠
p.Val109Ile Single submitter ⚠
p.Val13Ile Single submitter ⚠