CEP20 — 29 ClinVar variants
All ClinVar germline CEP20 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 28 flagged for review →
2 Likely benign · 27 Uncertain significance
Full CEP20 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 28
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.
- CEP20 p.Ala30Val Uncertain significance Single submitter
- CEP20 p.Arg141Ser Uncertain significance Single submitter
- CEP20 p.Arg43Pro Uncertain significance Single submitter
- CEP20 p.Asn173Ser Uncertain significance Single submitter
- CEP20 p.Asp165Gly Uncertain significance Single submitter
- CEP20 p.Gln133Arg Uncertain significance Single submitter
- CEP20 p.Gln87Arg Uncertain significance Single submitter
- CEP20 p.Glu92Val Uncertain significance Single submitter
- CEP20 p.His152Arg Uncertain significance Single submitter
- CEP20 p.His167Arg Uncertain significance Single submitter
- CEP20 p.Ile122Thr Uncertain significance Single submitter
- CEP20 p.Leu127Val Uncertain significance Single submitter
- CEP20 p.Leu7Phe Uncertain significance Single submitter
- CEP20 p.Pro134Leu Uncertain significance Single submitter
- CEP20 p.Ser160Asn Uncertain significance Single submitter
- CEP20 p.Val72Gly Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- CEP20 p.Ala2Gly Uncertain significance Single submitter
- CEP20 p.Ala2Val Uncertain significance Single submitter
- CEP20 p.Ala35Thr Uncertain significance Single submitter
- CEP20 p.Ala70Thr Uncertain significance Single submitter
- CEP20 p.Arg116Cys Uncertain significance Single submitter
- CEP20 p.Arg40Cys Uncertain significance Single submitter
- CEP20 p.Asn34Ser Likely benign Single submitter
- CEP20 p.Asp85Gly Uncertain significance Single submitter
- CEP20 p.Glu6Gln Uncertain significance Single submitter
- CEP20 p.Glu6Gly Uncertain significance Single submitter
- CEP20 p.Pro83Ser Uncertain significance Single submitter
- CEP20 p.Val72Ile Uncertain significance Single submitter
All CEP20 variants
Likely benign 2
- p.Asn34Ser Single submitter ⚠
- p.Gly109= Single submitter
Uncertain significance 27
- p.Ala2Gly Single submitter ⚠
- p.Ala2Val Single submitter ⚠
- p.Ala30Val Single submitter ⚠
- p.Ala35Thr Single submitter ⚠
- p.Ala70Thr Single submitter ⚠
- p.Arg116Cys Single submitter ⚠
- p.Arg141Ser Single submitter ⚠
- p.Arg40Cys Single submitter ⚠
- p.Arg43Pro Single submitter ⚠
- p.Asn173Ser Single submitter ⚠
- p.Asp165Gly Single submitter ⚠
- p.Asp85Gly Single submitter ⚠
- p.Gln133Arg Single submitter ⚠
- p.Gln87Arg Single submitter ⚠
- p.Glu6Gln Single submitter ⚠
- p.Glu6Gly Single submitter ⚠
- p.Glu92Val Single submitter ⚠
- p.His152Arg Single submitter ⚠
- p.His167Arg Single submitter ⚠
- p.Ile122Thr Single submitter ⚠
- p.Leu127Val Single submitter ⚠
- p.Leu7Phe Single submitter ⚠
- p.Pro134Leu Single submitter ⚠
- p.Pro83Ser Single submitter ⚠
- p.Ser160Asn Single submitter ⚠
- p.Val72Gly Single submitter ⚠
- p.Val72Ile Single submitter ⚠