CEP128 — 163 ClinVar variants

All ClinVar germline CEP128 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 150 flagged for review →

3 Benign · 12 Likely benign · 148 Uncertain significance

Full CEP128 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 150

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 90

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 60

The independent predictors disagree with each other — read with care.

All CEP128 variants

Benign 3

p.Thr317= Multiple submitters
p.Ser1071= Single submitter
p.Val354Ala Single submitter

Likely benign 12

p.Gln443Arg Multiple submitters
c.2959-5T>C Single submitter
p.Arg1036His Single submitter
p.Arg437His Single submitter ⚠
p.Arg64Gln Single submitter
p.Asn890Ser Single submitter
p.Asp928Glu Single submitter
p.Gly1025Asp Single submitter
p.Gly1093Glu Single submitter
p.His124Arg Single submitter
p.Met806Thr Single submitter
p.Thr317Met Single submitter ⚠

Uncertain significance 148

p.Ala399Thr Single submitter ⚠
p.Ala399Val Single submitter ⚠
p.Ala440Pro Single submitter ⚠
p.Ala440Thr Single submitter ⚠
p.Ala458Thr Single submitter ⚠
p.Ala475Val Single submitter ⚠
p.Ala503Val Single submitter ⚠
p.Ala535Thr Single submitter ⚠
p.Ala535Val Single submitter ⚠
p.Ala657Gly Single submitter ⚠
p.Ala75Val Single submitter ⚠
p.Arg1005Cys Single submitter ⚠
p.Arg1049Cys Single submitter ⚠
p.Arg12Cys Single submitter ⚠
p.Arg144Gly Single submitter ⚠
p.Arg150Leu Single submitter ⚠
p.Arg150Trp Single submitter ⚠
p.Arg219Gln Single submitter ⚠
p.Arg232Cys Single submitter ⚠
p.Arg241His Single submitter ⚠
p.Arg241Pro Single submitter ⚠
p.Arg302Gln Single submitter ⚠
p.Arg356Trp Single submitter ⚠
p.Arg449Cys Single submitter ⚠
p.Arg460Trp Single submitter ⚠
p.Arg491Lys Single submitter ⚠
p.Arg53Gln Single submitter ⚠
p.Arg543Gly Single submitter ⚠
p.Arg543Leu Single submitter ⚠
p.Arg553Cys Single submitter ⚠
p.Arg568Gly Single submitter ⚠
p.Arg644Gln Single submitter ⚠
p.Arg751His Single submitter ⚠
p.Arg892Gln Single submitter ⚠
p.Arg954Cys Single submitter ⚠
p.Arg954His Single submitter ⚠
p.Asn1074Ser Single submitter ⚠
p.Asn208Asp Single submitter ⚠
p.Asn411Ser Single submitter ⚠
p.Asp1015Asn Single submitter ⚠
p.Asp136Glu Single submitter ⚠
p.Asp264Asn Single submitter ⚠
p.Asp548Asn Single submitter ⚠
p.Asp569Glu Single submitter ⚠
p.Asp787Asn Single submitter ⚠
p.Asp815Gly Single submitter ⚠
p.Asp945Gly Single submitter ⚠
p.Asp984Ala Single submitter ⚠
p.Cys387Tyr Single submitter ⚠
p.Cys433Trp Single submitter ⚠
p.Cys839Phe Single submitter ⚠
p.Gln1086His Single submitter ⚠
p.Gln244Arg Single submitter ⚠
p.Gln251Lys Single submitter ⚠
p.Gln253Arg Single submitter ⚠
p.Gln253Pro Single submitter ⚠
p.Gln371Arg Single submitter ⚠
p.Gln416Lys Single submitter ⚠
p.Gln467Lys Single submitter ⚠
p.Gln537Arg Single submitter ⚠
p.Gln574Pro Single submitter ⚠
p.Gln625Arg Single submitter ⚠
p.Gln713Arg Single submitter ⚠
p.Gln824Arg Single submitter ⚠
p.Gln914Arg Single submitter ⚠
p.Glu214Gly Single submitter ⚠
p.Glu226Lys Single submitter ⚠
p.Glu236Gln Single submitter ⚠
p.Glu362Gly Single submitter ⚠
p.Glu389Gln Single submitter ⚠
p.Glu39Lys Single submitter ⚠
p.Glu410Gln Single submitter ⚠
p.Glu608Asp Single submitter ⚠
p.Glu613Lys Single submitter ⚠
p.Glu635Gly Single submitter ⚠
p.Glu823Lys Single submitter ⚠
p.Glu879Gly Single submitter ⚠
p.Glu940Gly Single submitter ⚠
p.Gly1037Glu Single submitter ⚠
p.Gly135Glu Single submitter ⚠
p.Gly139Val Single submitter ⚠
p.Gly148Asp Single submitter ⚠
p.Gly179Glu Single submitter ⚠
p.Gly752Asp Single submitter ⚠
p.Gly832Arg Single submitter ⚠
p.His1011Tyr Single submitter ⚠
p.His10Tyr Single submitter ⚠
p.His124Asp Single submitter ⚠
p.His589Arg Single submitter ⚠
p.His860Arg Single submitter ⚠
p.Ile426Thr Single submitter ⚠
p.Ile44Val Single submitter ⚠
p.Ile570Met Single submitter ⚠
p.Ile682Leu Single submitter ⚠
p.Ile733Thr Single submitter ⚠
p.Ile798Leu Single submitter ⚠
p.Ile831Leu Single submitter ⚠
p.Ile87Val Single submitter ⚠
p.Ile920Thr Single submitter ⚠
p.Leu186Ile Single submitter ⚠
p.Leu245Met Single submitter ⚠
p.Leu381Ile Single submitter ⚠
p.Leu532Pro Single submitter ⚠
p.Leu55Pro Single submitter ⚠
p.Leu577Val Single submitter ⚠
p.Leu668Phe Single submitter ⚠
p.Leu778Arg Single submitter ⚠
p.Leu881Pro Single submitter ⚠
p.Lys1017Asn Single submitter ⚠
p.Lys1064Glu Single submitter ⚠
p.Lys1075Gln Single submitter ⚠
p.Lys197Thr Single submitter ⚠
p.Lys477Asn Single submitter ⚠
p.Lys523Arg Single submitter ⚠
p.Lys525Thr Single submitter ⚠
p.Lys544Arg Single submitter ⚠
p.Lys606Ile Single submitter ⚠
p.Lys609Asn Single submitter ⚠
p.Lys620Arg Single submitter ⚠
p.Lys620Asn Single submitter ⚠
p.Lys724Thr Single submitter ⚠
p.Lys756Met Single submitter ⚠
p.Lys758Arg Single submitter ⚠
p.Lys873Ile Single submitter ⚠
p.Lys882Arg Single submitter ⚠
p.Phe182Leu Single submitter ⚠
p.Pro863Ser Single submitter ⚠
p.Ser108Gly Single submitter ⚠
p.Ser1094Asn Single submitter ⚠
p.Ser112Ile Single submitter ⚠
p.Ser172Asn Single submitter ⚠
p.Ser961Gly Single submitter ⚠
p.Thr1016Ala Single submitter ⚠
p.Thr233Ala Single submitter ⚠
p.Thr25Met Single submitter ⚠
p.Thr304Arg Single submitter ⚠
p.Thr448Ser Single submitter ⚠
p.Thr51Ile Single submitter ⚠
p.Thr669Ala Single submitter ⚠
p.Thr941Ala Single submitter ⚠
p.Tyr1092Asn Single submitter ⚠
p.Tyr1092Cys Single submitter ⚠
p.Tyr340Cys Single submitter ⚠
p.Tyr782Asp Single submitter ⚠
p.Val216Leu Single submitter ⚠
p.Val354Phe Single submitter ⚠
p.Val58Met Single submitter ⚠
p.Val852Ala Single submitter ⚠