CEP85 — 114 ClinVar variants
All ClinVar germline CEP85 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 104 flagged for review →
5 Benign · 6 Likely benign · 103 Uncertain significance
Full CEP85 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 104
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 69
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CEP85 p.Ala374Pro Uncertain significance Single submitter
- CEP85 p.Ala396Thr Uncertain significance Single submitter
- CEP85 p.Ala399Ser Uncertain significance Single submitter
- CEP85 p.Ala656Val Uncertain significance Single submitter
- CEP85 p.Arg146Lys Uncertain significance Single submitter
- CEP85 p.Arg177Lys Uncertain significance Single submitter
- CEP85 p.Arg277Gln Uncertain significance Single submitter
- CEP85 p.Arg620Gln Uncertain significance Single submitter
- CEP85 p.Asn189Ser Uncertain significance Single submitter
- CEP85 p.Asn304Ser Uncertain significance Single submitter
- CEP85 p.Asn456Ser Uncertain significance Single submitter
- CEP85 p.Asp452Gly Uncertain significance Single submitter
- CEP85 p.Asp70Gly Uncertain significance Single submitter
- CEP85 p.Gln162Glu Uncertain significance Single submitter
- CEP85 p.Gln288Glu Uncertain significance Single submitter
- CEP85 p.Gln498Glu Uncertain significance Single submitter
- CEP85 p.Gln533Glu Uncertain significance Single submitter
- CEP85 p.Gln580Lys Uncertain significance Single submitter
- CEP85 p.Gln655Glu Uncertain significance Single submitter
- CEP85 p.Glu217Asp Uncertain significance Single submitter
- CEP85 p.Glu224Gly Uncertain significance Single submitter
- CEP85 p.Glu341Asp Uncertain significance Single submitter
- CEP85 p.Glu559Asp Uncertain significance Single submitter
- CEP85 p.Glu5Asp Uncertain significance Single submitter
- CEP85 p.Glu601Gln Uncertain significance Single submitter
- CEP85 p.Glu607Gln Uncertain significance Single submitter
- CEP85 p.Glu730Ala Uncertain significance Single submitter
- CEP85 p.Gly112Ala Uncertain significance Single submitter
- CEP85 p.Gly128Arg Uncertain significance Single submitter
- CEP85 p.Gly133Arg Uncertain significance Single submitter
- CEP85 p.Gly136Ser Uncertain significance Single submitter
- CEP85 p.Gly232Arg Uncertain significance Single submitter
- CEP85 p.Gly257Arg Uncertain significance Single submitter
- CEP85 p.Gly377Asp Uncertain significance Single submitter
- CEP85 p.Gly562Glu Uncertain significance Single submitter
- CEP85 p.His309Arg Uncertain significance Single submitter
- CEP85 p.His335Gln Uncertain significance Single submitter
- CEP85 p.His437Pro Uncertain significance Single submitter
- CEP85 p.Ile12Val Uncertain significance Single submitter
- CEP85 p.Ile181Thr Uncertain significance Single submitter
- CEP85 p.Ile410Thr Uncertain significance Single submitter
- CEP85 p.Ile83Val Uncertain significance Single submitter
- CEP85 p.Leu197Phe Uncertain significance Single submitter
- CEP85 p.Leu248Pro Uncertain significance Single submitter
- CEP85 p.Leu29Pro Uncertain significance Single submitter
- CEP85 p.Leu321Ser Uncertain significance Single submitter
- CEP85 p.Leu99Ser Uncertain significance Single submitter
- CEP85 p.Lys117Asn Uncertain significance Single submitter
- CEP85 p.Lys216Glu Uncertain significance Single submitter
- CEP85 p.Lys449Arg Uncertain significance Single submitter
- CEP85 p.Met746Val Uncertain significance Single submitter
- CEP85 p.Pro103Leu Uncertain significance Single submitter
- CEP85 p.Pro18Leu Uncertain significance Single submitter
- CEP85 p.Pro201Arg Uncertain significance Single submitter
- CEP85 p.Pro210Ser Uncertain significance Single submitter
- CEP85 p.Pro229Ser Uncertain significance Single submitter
- CEP85 p.Pro240Ser Uncertain significance Single submitter
- CEP85 p.Pro256Ser Uncertain significance Single submitter
- CEP85 p.Pro269Leu Uncertain significance Single submitter
- CEP85 p.Ser215Arg Uncertain significance Single submitter
- CEP85 p.Ser518Gly Uncertain significance Single submitter
- CEP85 p.Ser545Ala Uncertain significance Single submitter
- CEP85 p.Ser679Ile Uncertain significance Single submitter
- CEP85 p.Thr196Ala Uncertain significance Single submitter
- CEP85 p.Thr98Ala Uncertain significance Single submitter
- CEP85 p.Thr9Ala Uncertain significance Single submitter
- CEP85 p.Val234Leu Uncertain significance Single submitter
- CEP85 p.Val567Ala Uncertain significance Single submitter
- CEP85 p.Val687Leu Uncertain significance Single submitter
Predictors split 35
The independent predictors disagree with each other — read with care.
- CEP85 p.Arg237Trp Uncertain significance Single submitter
- CEP85 p.Arg287Trp Uncertain significance Single submitter
- CEP85 p.Arg359Gln Uncertain significance Single submitter
- CEP85 p.Arg395His Uncertain significance Single submitter
- CEP85 p.Arg470Trp Uncertain significance Single submitter
- CEP85 p.Arg475Cys Uncertain significance Single submitter
- CEP85 p.Arg481His Uncertain significance Single submitter
- CEP85 p.Arg48Cys Uncertain significance Single submitter
- CEP85 p.Arg736Cys Uncertain significance Single submitter
- CEP85 p.Arg737His Uncertain significance Single submitter
- CEP85 p.Asn391Ser Uncertain significance Single submitter
- CEP85 p.Asn701His Uncertain significance Single submitter
- CEP85 p.Asp54Asn Uncertain significance Single submitter
- CEP85 p.Gln288Arg Uncertain significance Single submitter
- CEP85 p.Gln299His Uncertain significance Single submitter
- CEP85 p.Gln388Lys Uncertain significance Single submitter
- CEP85 p.Gln533Lys Uncertain significance Single submitter
- CEP85 p.Gln693His Uncertain significance Single submitter
- CEP85 p.Glu282Lys Uncertain significance Single submitter
- CEP85 p.Glu439Gln Uncertain significance Single submitter
- CEP85 p.Glu535Asp Uncertain significance Single submitter
- CEP85 p.Glu616Asp Uncertain significance Single submitter
- CEP85 p.Glu730Asp Uncertain significance Single submitter
- CEP85 p.His674Tyr Likely benign Single submitter
- CEP85 p.Leu283Pro Uncertain significance Single submitter
- CEP85 p.Leu343His Uncertain significance Single submitter
- CEP85 p.Lys436Met Uncertain significance Single submitter
- CEP85 p.Pro82Arg Uncertain significance Single submitter
- CEP85 p.Ser77Gly Uncertain significance Single submitter
- CEP85 p.Thr402Ala Uncertain significance Single submitter
- CEP85 p.Thr488Ile Uncertain significance Single submitter
- CEP85 p.Thr62Ile Uncertain significance Single submitter
- CEP85 p.Tyr482Phe Uncertain significance Single submitter
- CEP85 p.Val583Met Uncertain significance Single submitter
- CEP85 p.Val632Met Uncertain significance Single submitter
All CEP85 variants
Benign 5
- p.Ala176= Multiple submitters
- p.Leu405Phe Multiple submitters
- c.1744-4T>G Single submitter
- p.Ala53= Single submitter
- p.Arg48His Single submitter
Likely benign 6
- p.Ala176Val Single submitter
- p.Arg206His Single submitter
- p.His674Tyr Single submitter ⚠
- p.Ile532Val Single submitter
- p.Pro662Ser Single submitter
- p.Thr155Ala Single submitter
Uncertain significance 103
- p.Ala374Pro Single submitter ⚠
- p.Ala396Thr Single submitter ⚠
- p.Ala399Ser Single submitter ⚠
- p.Ala656Val Single submitter ⚠
- p.Arg146Lys Single submitter ⚠
- p.Arg177Lys Single submitter ⚠
- p.Arg237Trp Single submitter ⚠
- p.Arg277Gln Single submitter ⚠
- p.Arg287Trp Single submitter ⚠
- p.Arg359Gln Single submitter ⚠
- p.Arg395His Single submitter ⚠
- p.Arg470Trp Single submitter ⚠
- p.Arg475Cys Single submitter ⚠
- p.Arg481His Single submitter ⚠
- p.Arg48Cys Single submitter ⚠
- p.Arg620Gln Single submitter ⚠
- p.Arg736Cys Single submitter ⚠
- p.Arg737His Single submitter ⚠
- p.Asn189Ser Single submitter ⚠
- p.Asn304Ser Single submitter ⚠
- p.Asn391Ser Single submitter ⚠
- p.Asn456Ser Single submitter ⚠
- p.Asn701His Single submitter ⚠
- p.Asp452Gly Single submitter ⚠
- p.Asp54Asn Single submitter ⚠
- p.Asp70Gly Single submitter ⚠
- p.Gln162Glu Single submitter ⚠
- p.Gln288Arg Single submitter ⚠
- p.Gln288Glu Single submitter ⚠
- p.Gln299His Single submitter ⚠
- p.Gln388Lys Single submitter ⚠
- p.Gln498Glu Single submitter ⚠
- p.Gln533Glu Single submitter ⚠
- p.Gln533Lys Single submitter ⚠
- p.Gln580Lys Single submitter ⚠
- p.Gln655Glu Single submitter ⚠
- p.Gln693His Single submitter ⚠
- p.Glu217Asp Single submitter ⚠
- p.Glu224Gly Single submitter ⚠
- p.Glu282Lys Single submitter ⚠
- p.Glu341Asp Single submitter ⚠
- p.Glu439Gln Single submitter ⚠
- p.Glu535Asp Single submitter ⚠
- p.Glu559Asp Single submitter ⚠
- p.Glu5Asp Single submitter ⚠
- p.Glu601Gln Single submitter ⚠
- p.Glu607Gln Single submitter ⚠
- p.Glu616Asp Single submitter ⚠
- p.Glu730Ala Single submitter ⚠
- p.Glu730Asp Single submitter ⚠
- p.Gly112Ala Single submitter ⚠
- p.Gly128Arg Single submitter ⚠
- p.Gly133Arg Single submitter ⚠
- p.Gly136Ser Single submitter ⚠
- p.Gly232Arg Single submitter ⚠
- p.Gly257Arg Single submitter ⚠
- p.Gly377Asp Single submitter ⚠
- p.Gly562Glu Single submitter ⚠
- p.His309Arg Single submitter ⚠
- p.His335Gln Single submitter ⚠
- p.His437Pro Single submitter ⚠
- p.Ile12Val Single submitter ⚠
- p.Ile181Thr Single submitter ⚠
- p.Ile410Thr Single submitter ⚠
- p.Ile83Val Single submitter ⚠
- p.Leu197Phe Single submitter ⚠
- p.Leu248Pro Single submitter ⚠
- p.Leu283Pro Single submitter ⚠
- p.Leu29Pro Single submitter ⚠
- p.Leu321Ser Single submitter ⚠
- p.Leu343His Single submitter ⚠
- p.Leu99Ser Single submitter ⚠
- p.Lys117Asn Single submitter ⚠
- p.Lys216Glu Single submitter ⚠
- p.Lys436Met Single submitter ⚠
- p.Lys449Arg Single submitter ⚠
- p.Met746Val Single submitter ⚠
- p.Pro103Leu Single submitter ⚠
- p.Pro18Leu Single submitter ⚠
- p.Pro201Arg Single submitter ⚠
- p.Pro210Ser Single submitter ⚠
- p.Pro229Ser Single submitter ⚠
- p.Pro240Ser Single submitter ⚠
- p.Pro256Ser Single submitter ⚠
- p.Pro269Leu Single submitter ⚠
- p.Pro82Arg Single submitter ⚠
- p.Ser215Arg Single submitter ⚠
- p.Ser518Gly Single submitter ⚠
- p.Ser545Ala Single submitter ⚠
- p.Ser679Ile Single submitter ⚠
- p.Ser77Gly Single submitter ⚠
- p.Thr196Ala Single submitter ⚠
- p.Thr402Ala Single submitter ⚠
- p.Thr488Ile Single submitter ⚠
- p.Thr62Ile Single submitter ⚠
- p.Thr98Ala Single submitter ⚠
- p.Thr9Ala Single submitter ⚠
- p.Tyr482Phe Single submitter ⚠
- p.Val234Leu Single submitter ⚠
- p.Val567Ala Single submitter ⚠
- p.Val583Met Single submitter ⚠
- p.Val632Met Single submitter ⚠
- p.Val687Leu Single submitter ⚠