CBX1 — 12 ClinVar variants
All ClinVar germline CBX1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 12 flagged for review →
12 Uncertain significance
Full CBX1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 12
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 4
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
Predictors split 8
The independent predictors disagree with each other — read with care.
- CBX1 p.Ala87Thr Uncertain significance Single submitter
- CBX1 p.Asn6Lys Uncertain significance Single submitter
- CBX1 p.Asp93Val Uncertain significance Single submitter
- CBX1 p.Glu120Asp Uncertain significance Single submitter
-
CBX1 p.Lys72Gln
Uncertain significance
Single submitter
neurodevelopmental disorder
- CBX1 p.Lys79Ile Uncertain significance Single submitter
- CBX1 p.Ser175Leu Uncertain significance Single submitter
- CBX1 p.Ser70Leu Uncertain significance Single submitter
All CBX1 variants
Uncertain significance 12
- p.Ala87Thr Single submitter ⚠
- p.Arg85His Single submitter ⚠
- p.Asn6Lys Single submitter ⚠
- p.Asp177Glu Single submitter ⚠
- p.Asp78Asn Single submitter ⚠
- p.Asp78Gly Single submitter ⚠
- p.Asp93Val Single submitter ⚠
- p.Glu120Asp Single submitter ⚠
- p.Lys72Gln Single submitter neurodevelopmental disorder ⚠
- p.Lys79Ile Single submitter ⚠
- p.Ser175Leu Single submitter ⚠
- p.Ser70Leu Single submitter ⚠