CETN1 — 22 ClinVar variants
All ClinVar germline CETN1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 22 flagged for review →
22 Uncertain significance
Full CETN1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 22
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 13
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CETN1 p.Ala10Thr Uncertain significance Single submitter
- CETN1 p.Asp154Ala Uncertain significance Single submitter
- CETN1 p.Glu135Val Uncertain significance Single submitter
- CETN1 p.Glu68Val Uncertain significance Single submitter
- CETN1 p.Gly155Ser Uncertain significance Single submitter
- CETN1 p.Gly82Val Uncertain significance Single submitter
- CETN1 p.Ile48Phe Uncertain significance Single submitter
- CETN1 p.Ile73Val Uncertain significance Single submitter
- CETN1 p.Leu126Gln Uncertain significance Single submitter
- CETN1 p.Leu142Arg Uncertain significance Single submitter
- CETN1 p.Lys7Arg Uncertain significance Single submitter
- CETN1 p.Phe5Ser Uncertain significance Single submitter
- CETN1 p.Ser122Trp Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- CETN1 p.Asn131Ser Uncertain significance Single submitter
- CETN1 p.Asp147His Uncertain significance Single submitter
- CETN1 p.Asp49Glu Uncertain significance Single submitter
- CETN1 p.Glu75Lys Uncertain significance Single submitter
- CETN1 p.Lys120Arg Uncertain significance Single submitter
- CETN1 p.Lys120Asn Uncertain significance Single submitter
- CETN1 p.Lys16Thr Uncertain significance Single submitter
- CETN1 p.Lys70Gln Uncertain significance Single submitter
- CETN1 p.Thr47Ala Uncertain significance Single submitter
All CETN1 variants
Uncertain significance 22
- p.Ala10Thr Single submitter ⚠
- p.Asn131Ser Single submitter ⚠
- p.Asp147His Single submitter ⚠
- p.Asp154Ala Single submitter ⚠
- p.Asp49Glu Single submitter ⚠
- p.Glu135Val Single submitter ⚠
- p.Glu68Val Single submitter ⚠
- p.Glu75Lys Single submitter ⚠
- p.Gly155Ser Single submitter ⚠
- p.Gly82Val Single submitter ⚠
- p.Ile48Phe Single submitter ⚠
- p.Ile73Val Single submitter ⚠
- p.Leu126Gln Single submitter ⚠
- p.Leu142Arg Single submitter ⚠
- p.Lys120Arg Single submitter ⚠
- p.Lys120Asn Single submitter ⚠
- p.Lys16Thr Single submitter ⚠
- p.Lys70Gln Single submitter ⚠
- p.Lys7Arg Single submitter ⚠
- p.Phe5Ser Single submitter ⚠
- p.Ser122Trp Single submitter ⚠
- p.Thr47Ala Single submitter ⚠