CEPT1 — 28 ClinVar variants
All ClinVar germline CEPT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 27 flagged for review →
1 Benign · 27 Uncertain significance
Full CEPT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 27
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 19
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CEPT1 p.Arg267His Uncertain significance Single submitter
- CEPT1 p.Arg45Lys Uncertain significance Single submitter
- CEPT1 p.Arg5Gln Uncertain significance Single submitter
- CEPT1 p.Arg61Gln Uncertain significance Single submitter
- CEPT1 p.Asn178Ser Uncertain significance Single submitter
- CEPT1 p.Cys262Tyr Uncertain significance Single submitter
- CEPT1 p.Cys98Gly Uncertain significance Single submitter
- CEPT1 p.Ile95Val Uncertain significance Single submitter
- CEPT1 p.Leu311Val Uncertain significance Single submitter
- CEPT1 p.Lys314Arg Uncertain significance Single submitter
- CEPT1 p.Lys9Arg Uncertain significance Single submitter
- CEPT1 p.Pro148Leu Uncertain significance Single submitter
- CEPT1 p.Pro80Ala Uncertain significance Single submitter
- CEPT1 p.Thr200Met Uncertain significance Single submitter
- CEPT1 p.Thr40Ile Uncertain significance Single submitter
- CEPT1 p.Thr7Ala Uncertain significance Single submitter
- CEPT1 p.Tyr56Cys Uncertain significance Single submitter
- CEPT1 p.Val20Ala Uncertain significance Single submitter
- CEPT1 p.Val255Ile Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- CEPT1 p.Ala121Thr Uncertain significance Single submitter
- CEPT1 p.Arg207Gln Uncertain significance Single submitter
- CEPT1 p.Arg267Cys Uncertain significance Single submitter
- CEPT1 p.Arg386Cys Uncertain significance Single submitter
- CEPT1 p.His402Arg Uncertain significance Single submitter
- CEPT1 p.Ile171Thr Uncertain significance Single submitter
- CEPT1 p.Ile229Thr Uncertain significance Single submitter
- CEPT1 p.Ser397Cys Uncertain significance Single submitter
All CEPT1 variants
Benign 1
- p.Ile120Val Multiple submitters
Uncertain significance 27
- p.Ala121Thr Single submitter ⚠
- p.Arg207Gln Single submitter ⚠
- p.Arg267Cys Single submitter ⚠
- p.Arg267His Single submitter ⚠
- p.Arg386Cys Single submitter ⚠
- p.Arg45Lys Single submitter ⚠
- p.Arg5Gln Single submitter ⚠
- p.Arg61Gln Single submitter ⚠
- p.Asn178Ser Single submitter ⚠
- p.Cys262Tyr Single submitter ⚠
- p.Cys98Gly Single submitter ⚠
- p.His402Arg Single submitter ⚠
- p.Ile171Thr Single submitter ⚠
- p.Ile229Thr Single submitter ⚠
- p.Ile95Val Single submitter ⚠
- p.Leu311Val Single submitter ⚠
- p.Lys314Arg Single submitter ⚠
- p.Lys9Arg Single submitter ⚠
- p.Pro148Leu Single submitter ⚠
- p.Pro80Ala Single submitter ⚠
- p.Ser397Cys Single submitter ⚠
- p.Thr200Met Single submitter ⚠
- p.Thr40Ile Single submitter ⚠
- p.Thr7Ala Single submitter ⚠
- p.Tyr56Cys Single submitter ⚠
- p.Val20Ala Single submitter ⚠
- p.Val255Ile Single submitter ⚠